AARS1	C2750090	Charcot-Marie-Tooth Disease, Axonal, Type 2n	5	CTD_human;GENOMICS_ENGLAND;UNIPROT
AARS1	C4225361	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29	2	CTD_human;GENOMICS_ENGLAND;UNIPROT
ABCF1	C0032285	Pneumonia	1	CTD_human
ABCF1	C0032300	Lobar Pneumonia	1	CTD_human
ABCF1	C0887898	Experimental Lung Inflammation	1	CTD_human
ABCF1	C3714636	Pneumonitis	1	CTD_human
ACO1	C0029408	Degenerative polyarthritis	1	CTD_human
ACO1	C0086743	Osteoarthrosis Deformans	1	CTD_human
AKT1	C0005586	Bipolar Disorder	5	PSYGENET
AKT1	C0006142	Malignant neoplasm of breast	3	CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT
AKT1	C0006868	Cannabis Abuse	1	CTD_human
AKT1	C0006870	Cannabis Dependence	1	CTD_human
AKT1	C0007114	Malignant neoplasm of skin	1	CTD_human
AKT1	C0007137	Squamous cell carcinoma	1	CTD_human
AKT1	C0009402	Colorectal Carcinoma	1	CTD_human;GENOMICS_ENGLAND
AKT1	C0011570	Mental Depression	5	PSYGENET
AKT1	C0011581	Depressive disorder	5	PSYGENET
AKT1	C0014544	Epilepsy	1	CTD_human
AKT1	C0018553	Hamartoma Syndrome, Multiple	1	ORPHANET
AKT1	C0018614	Hashish Abuse	1	CTD_human
AKT1	C0023487	Acute Promyelocytic Leukemia	1	CTD_human
AKT1	C0024809	Marijuana Abuse	1	CTD_human
AKT1	C0025286	Meningioma	1	CGI;CTD_human
AKT1	C0028754	Obesity	1	CTD_human
AKT1	C0032580	Adenomatous Polyposis Coli	1	CTD_human
AKT1	C0033937	Psychoses, Drug	1	CTD_human
AKT1	C0033941	Psychoses, Substance-Induced	1	CTD_human
AKT1	C0036341	Schizophrenia	5	CTD_human;GENOMICS_ENGLAND
AKT1	C0079772	T-Cell Lymphoma	1	CTD_human
AKT1	C0085261	Proteus Syndrome	3	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
AKT1	C0086237	Epilepsy, Cryptogenic	1	CTD_human
AKT1	C0205834	Meningiomas, Multiple	1	CTD_human
AKT1	C0236804	Amphetamine Addiction	1	CTD_human
AKT1	C0236807	Amphetamine Abuse	1	CTD_human
AKT1	C0242379	Malignant neoplasm of lung	3	CTD_human
AKT1	C0259785	Malignant Meningioma	1	CTD_human
AKT1	C0281784	Benign Meningioma	1	CTD_human
AKT1	C0282313	Condition, Preneoplastic	1	CTD_human
AKT1	C0334605	Meningothelial meningioma	1	CTD_human
AKT1	C0334606	Fibrous Meningioma	1	CTD_human
AKT1	C0334607	Psammomatous Meningioma	1	CTD_human
AKT1	C0334608	Angiomatous Meningioma	1	CTD_human
AKT1	C0334609	Hemangioblastic Meningioma	1	CTD_human
AKT1	C0334610	Hemangiopericytic Meningioma	1	CTD_human
AKT1	C0334611	Transitional Meningioma	1	CTD_human
AKT1	C0347515	Spinal Meningioma	1	CTD_human
AKT1	C0349604	Intracranial Meningioma	1	CTD_human
AKT1	C0376358	Malignant neoplasm of prostate	2	CTD_human
AKT1	C0428791	Aortic valve calcification	1	CTD_human
AKT1	C0431121	Clear Cell Meningioma	1	CTD_human
AKT1	C0457190	Xanthomatous Meningioma	1	CTD_human
AKT1	C0678222	Breast Carcinoma	1	CGI;CTD_human
AKT1	C0751111	Awakening Epilepsy	1	CTD_human
AKT1	C0751303	Cerebral Convexity Meningioma	1	CTD_human
AKT1	C0751304	Parasagittal Meningioma	1	CTD_human
AKT1	C0919267	ovarian neoplasm	2	CGI;CTD_human
AKT1	C1140680	Malignant neoplasm of ovary	3	CGI;CTD_human;GENOMICS_ENGLAND
AKT1	C1168401	Squamous cell carcinoma of the head and neck	1	CTD_human
AKT1	C1257931	Mammary Neoplasms, Human	1	CTD_human
AKT1	C1334261	Intraorbital Meningioma	1	CTD_human
AKT1	C1334271	Intraventricular Meningioma	1	CTD_human
AKT1	C1335107	Olfactory Groove Meningioma	1	CTD_human
AKT1	C1384406	Secretory meningioma	1	CTD_human
AKT1	C1384408	Microcystic meningioma	1	CTD_human
AKT1	C1527197	Angioblastic Meningioma	1	CTD_human
AKT1	C1565950	Posterior Fossa Meningioma	1	CTD_human
AKT1	C1565951	Sphenoid Wing Meningioma	1	CTD_human
AKT1	C1623038	Cirrhosis	1	CTD_human
AKT1	C2713442	Polyposis, Adenomatous Intestinal	1	CTD_human
AKT1	C2713443	Familial Intestinal Polyposis	1	CTD_human
AKT1	C3163622	Papillary Meningioma	1	CTD_human
AKT1	C3554519	COWDEN SYNDROME 6	1	CTD_human;GENOMICS_ENGLAND;UNIPROT
AKT1	C4704874	Mammary Carcinoma, Human	1	CTD_human
AKT2	C0005586	Bipolar Disorder	1	PSYGENET
AKT2	C0006142	Malignant neoplasm of breast	1	CGI;CTD_human
AKT2	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	4	CTD_human;GENOMICS_ENGLAND;UNIPROT
AKT2	C0271694	Familial partial lipodystrophy	1	CTD_human
AKT2	C0678222	Breast Carcinoma	1	CGI;CTD_human
AKT2	C1257931	Mammary Neoplasms, Human	1	CTD_human
AKT2	C1720859	Familial Partial Lipodystrophy, Type 1	1	CTD_human
AKT2	C1720860	Familial Partial Lipodystrophy, Type 2	1	CTD_human
AKT2	C1720861	Familial Partial Lipodystrophy, Type 3	1	CTD_human
AKT2	C2931822	Nasopharyngeal carcinoma	1	CTD_human
AKT2	C3278384	HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY	5	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
AKT2	C4316789	Partial lipodystrophy	1	GENOMICS_ENGLAND
AKT2	C4704874	Mammary Carcinoma, Human	1	CTD_human
ANG	C0002736	Amyotrophic Lateral Sclerosis	1	ORPHANET
ANG	C0010093	Corpus Luteum Cyst	1	CTD_human
ANG	C0029927	Ovarian Cysts	1	CTD_human
ANG	C2678468	Amyotrophic Lateral Sclerosis 9	9	CTD_human;GENOMICS_ENGLAND;UNIPROT
AIRE	C0006840	Candidiasis	1	CTD_human
AIRE	C0007114	Malignant neoplasm of skin	1	CTD_human
AIRE	C0085859	Polyglandular Type I Autoimmune Syndrome	24	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
AIRE	C0085860	Autoimmune Syndrome Type II, Polyglandular	1	CTD_human
AIRE	C1535942	Polyglandular Type III Autoimmune Syndrome	1	CTD_human
AIRE	C3494489	Autoimmune polyendocrinopathy syndrome, type 1	2	CTD_human;ORPHANET
APP	C0002395	Alzheimer's Disease	63	CTD_human;UNIPROT
APP	C0002622	Amnesia	1	CTD_human
APP	C0002726	Amyloidosis	1	CTD_human
APP	C0005586	Bipolar Disorder	1	PSYGENET
APP	C0011265	Presenile dementia	35	CTD_human
APP	C0011570	Mental Depression	5	PSYGENET
APP	C0011573	Endogenous depression	1	PSYGENET
APP	C0011581	Depressive disorder	5	PSYGENET
APP	C0016667	Fragile X Syndrome	1	CTD_human
APP	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
APP	C0025261	Memory Disorders	16	CTD_human
APP	C0085220	Cerebral Amyloid Angiopathy	1	CTD_human
APP	C0231341	Premature aging syndrome	1	CTD_human
APP	C0276496	Familial Alzheimer Disease (FAD)	35	CTD_human
APP	C0333463	Senile Plaques	2	CTD_human
APP	C0338582	Sporadic Cerebral Amyloid Angiopathy	1	CTD_human
APP	C0338630	Senile Paranoid Dementia	1	CTD_human
APP	C0338656	Impaired cognition	1	CTD_human
APP	C0376280	Anxiety States, Neurotic	1	CTD_human
APP	C0494463	Alzheimer Disease, Late Onset	35	CTD_human
APP	C0497327	Dementia	3	CTD_human;GENOMICS_ENGLAND
APP	C0546126	Acute Confusional Senile Dementia	35	CTD_human
APP	C0600467	Neurogenic Inflammation	2	CTD_human
APP	C0750900	Alzheimer's Disease, Focal Onset	35	CTD_human
APP	C0750901	Alzheimer Disease, Early Onset	35	CTD_human
APP	C0751071	Familial Dementia	1	CTD_human
APP	C0751156	FRAXA Syndrome	1	CTD_human
APP	C0751157	FRAXE Syndrome	1	CTD_human
APP	C0751263	Learning Disturbance	8	CTD_human
APP	C0751265	Learning Disabilities	8	CTD_human
APP	C0948008	Ischemic stroke	1	GENOMICS_ENGLAND
APP	C1270972	Mild cognitive disorder	1	CTD_human
APP	C1279420	Anxiety neurosis (finding)	1	CTD_human
APP	C2751494	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT	2	CTD_human
APP	C2751536	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED	7	CTD_human;GENOMICS_ENGLAND;UNIPROT
APP	C2931672	Cerebral hemorrhage with amyloidosis, hereditary, Dutch type	3	CTD_human;ORPHANET
APP	C2936349	Plaque, Amyloid	2	CTD_human
APP	C3888307	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT	2	CTD_human
APP	C3888308	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT	2	CTD_human
APP	C3888309	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT	2	CTD_human
RHOA	C0002170	Alopecia	1	CTD_human
RHOA	C0005684	Malignant neoplasm of urinary bladder	1	CTD_human
RHOA	C0005695	Bladder Neoplasm	1	CTD_human
RHOA	C0009171	Cocaine Abuse	1	CTD_human
RHOA	C0013575	Ectodermal Dysplasia	1	CTD_human
RHOA	C0020981	Angioimmunoblastic Lymphadenopathy	2	CTD_human
RHOA	C0024623	Malignant neoplasm of stomach	3	CTD_human
RHOA	C0038587	Substance Withdrawal Syndrome	1	CTD_human
RHOA	C0079772	T-Cell Lymphoma	1	CTD_human
RHOA	C0079773	Lymphoma, T-Cell, Cutaneous	1	CTD_human
RHOA	C0079774	Peripheral T-Cell Lymphoma	2	CTD_human
RHOA	C0086873	Pseudopelade	1	CTD_human
RHOA	C0162311	Androgenetic Alopecia	1	CTD_human
RHOA	C0162361	Hidrotic Ectodermal Dysplasia	1	CTD_human
RHOA	C0162835	Hypopigmentation disorder	1	CTD_human
RHOA	C0205696	Anaplastic carcinoma	1	CTD_human
RHOA	C0205697	Carcinoma, Spindle-Cell	1	CTD_human
RHOA	C0205698	Undifferentiated carcinoma	1	CTD_human
RHOA	C0235833	Congenital diaphragmatic hernia	1	CTD_human
RHOA	C0265316	Neurocutaneous Syndromes	1	CTD_human
RHOA	C0265699	Congenital hernia of foramen of Morgagni	1	CTD_human
RHOA	C0265700	Congenital hernia of foramen of Bochdalek	1	CTD_human
RHOA	C0282160	Aplasia Cutis Congenita	1	CTD_human
RHOA	C0376407	Granulomatous Slack Skin	1	CTD_human
RHOA	C0600427	Cocaine Dependence	1	CTD_human
RHOA	C1706004	Anhydrotic Ectodermal Dysplasias	1	CTD_human
RHOA	C1708349	Hereditary Diffuse Gastric Cancer	3	CTD_human
RHOA	C1744559	Congenital ectodermal dysplasia of face	1	CTD_human
RHOA	C1858991	Childhood Ataxia with Central Nervous System Hypomyelinization	1	CTD_human
RHOA	C4083212	Alopecia, Male Pattern	1	CTD_human
ASMT	C0004352	Autistic Disorder	1	CTD_human
ASMT	C0005586	Bipolar Disorder	1	PSYGENET
ASMT	C0011570	Mental Depression	2	PSYGENET
ASMT	C0011581	Depressive disorder	2	PSYGENET
ASMT	C0019202	Hepatolenticular Degeneration	1	CTD_human
ASMT	C1527352	Hepatic Form of Wilson Disease	1	CTD_human
ATF4	C0005586	Bipolar Disorder	2	PSYGENET
ATF4	C0011570	Mental Depression	1	PSYGENET
ATF4	C0011581	Depressive disorder	1	PSYGENET
ATF4	C0015695	Fatty Liver	1	CTD_human
ATF4	C0021367	Mammary Ductal Carcinoma	1	CTD_human
ATF4	C0036341	Schizophrenia	1	PSYGENET
ATF4	C1134719	Invasive Ductal Breast Carcinoma	1	CTD_human
ATF4	C2711227	Steatohepatitis	1	CTD_human
BCL3	C0004153	Atherosclerosis	1	CTD_human
ZFP36L2	C0009402	Colorectal Carcinoma	1	CTD_human
ZFP36L2	C0376358	Malignant neoplasm of prostate	1	CTD_human
ZFP36L2	C1961099	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	1	CTD_human
C1QBP	C0006142	Malignant neoplasm of breast	1	CTD_human
C1QBP	C0678222	Breast Carcinoma	1	CTD_human
C1QBP	C1257931	Mammary Neoplasms, Human	1	CTD_human
C1QBP	C4540209	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	1	GENOMICS_ENGLAND;UNIPROT
C1QBP	C4704874	Mammary Carcinoma, Human	1	CTD_human
CALR	C0001815	Primary Myelofibrosis	2	CTD_human;GENOMICS_ENGLAND;ORPHANET
CALR	C0004565	Melanoma, B16	1	CTD_human
CALR	C0005586	Bipolar Disorder	1	PSYGENET
CALR	C0009075	Melanoma, Cloudman S91	1	CTD_human
CALR	C0009402	Colorectal Carcinoma	1	CTD_human
CALR	C0018598	Melanoma, Harding-Passey	1	CTD_human
CALR	C0025205	Melanoma, Experimental	1	CTD_human
CALR	C0026987	Myelofibrosis	2	GENOMICS_ENGLAND;ORPHANET
CALR	C0033937	Psychoses, Drug	1	PSYGENET
CALR	C0036337	Schizoaffective Disorder	2	PSYGENET
CALR	C0036349	Paranoid Schizophrenia	1	PSYGENET
CALR	C0036939	Shared Paranoid Disorder	1	PSYGENET
CALR	C0040028	Thrombocythemia, Essential	2	CTD_human;ORPHANET
CALR	C0151744	Myocardial Ischemia	1	CTD_human
CALR	C0279626	Squamous cell carcinoma of esophagus	1	CTD_human
CALR	C0349204	Nonorganic psychosis	2	PSYGENET
CALR	C0376358	Malignant neoplasm of prostate	1	CTD_human
CALR	C3277671	THROMBOCYTHEMIA 1	1	GENOMICS_ENGLAND
CARS1	C0001973	Alcoholic Intoxication, Chronic	1	PSYGENET
CARS1	C0025958	Microcephaly	1	GENOMICS_ENGLAND
CARS1	C0263490	Brittle hair	1	GENOMICS_ENGLAND
CARS1	C0334121	Inflammatory Myofibroblastic Tumor	2	ORPHANET
CD28	C0003873	Rheumatoid Arthritis	3	CTD_human
CD28	C0005138	Berylliosis	1	CTD_human
CD28	C0023493	Adult T-Cell Lymphoma/Leukemia	1	CTD_human
CD28	C0036920	Sezary Syndrome	1	ORPHANET
CD28	C0079773	Lymphoma, T-Cell, Cutaneous	2	CTD_human
CD28	C0079774	Peripheral T-Cell Lymphoma	1	CTD_human
CD28	C0263454	Chloracne	1	CTD_human
CD28	C0376407	Granulomatous Slack Skin	2	CTD_human
CD28	C2350873	Beryllium Disease	1	CTD_human
CD28	C4505456	HIV Coinfection	1	CTD_human
CIRBP	C0151744	Myocardial Ischemia	1	CTD_human
CIRBP	C0600467	Neurogenic Inflammation	1	CTD_human
CIRBP	C0751865	Alcohol-Induced Disorders, Nervous System	1	CTD_human
CIRBP	C1510586	Autism Spectrum Disorders	1	CTD_human
CYP1B1	C0006142	Malignant neoplasm of breast	2	CTD_human
CYP1B1	C0007137	Squamous cell carcinoma	1	CTD_human
CYP1B1	C0009402	Colorectal Carcinoma	1	CTD_human
CYP1B1	C0011616	Contact Dermatitis	1	CTD_human
CYP1B1	C0015695	Fatty Liver	1	CTD_human
CYP1B1	C0020302	Hydrophthalmos	1	ORPHANET
CYP1B1	C0023452	Childhood Acute Lymphoblastic Leukemia	1	CTD_human
CYP1B1	C0023453	L2 Acute Lymphoblastic Leukemia	1	CTD_human
CYP1B1	C0025202	melanoma	1	CTD_human
CYP1B1	C0028754	Obesity	1	CTD_human
CYP1B1	C0205646	Adenoma, Basal Cell	1	CTD_human
CYP1B1	C0205647	Follicular adenoma	1	CTD_human
CYP1B1	C0205648	Adenoma, Microcystic	1	CTD_human
CYP1B1	C0205649	Adenoma, Monomorphic	1	CTD_human
CYP1B1	C0205650	Papillary adenoma	1	CTD_human
CYP1B1	C0205651	Adenoma, Trabecular	1	CTD_human
CYP1B1	C0242379	Malignant neoplasm of lung	1	CTD_human
CYP1B1	C0344559	Irido-corneo-trabecular dysgenesis (disorder)	3	ORPHANET
CYP1B1	C0376358	Malignant neoplasm of prostate	1	CTD_human
CYP1B1	C0678222	Breast Carcinoma	2	CTD_human
CYP1B1	C0919267	ovarian neoplasm	1	CTD_human
CYP1B1	C1140680	Malignant neoplasm of ovary	1	CTD_human
CYP1B1	C1257931	Mammary Neoplasms, Human	2	CTD_human
CYP1B1	C1533041	Primary congenital glaucoma	2	GENOMICS_ENGLAND
CYP1B1	C1842028	GLAUCOMA 1, OPEN ANGLE, A	1	UNIPROT
CYP1B1	C1856439	GLAUCOMA 3, PRIMARY CONGENITAL, A	22	CTD_human;GENOMICS_ENGLAND;UNIPROT
CYP1B1	C1961102	Precursor Cell Lymphoblastic Leukemia Lymphoma	1	CTD_human
CYP1B1	C2711227	Steatohepatitis	1	CTD_human
CYP1B1	C2981140	Glaucoma of childhood	2	ORPHANET
CYP1B1	C4310809	ANTERIOR SEGMENT DYSGENESIS 5	2	GENOMICS_ENGLAND
CYP1B1	C4704874	Mammary Carcinoma, Human	2	CTD_human
DAPK1	C0007131	Non-Small Cell Lung Carcinoma	1	CTD_human
DAPK1	C0007134	Renal Cell Carcinoma	1	CTD_human
DAPK1	C0007138	Carcinoma, Transitional Cell	1	CTD_human
DAPK1	C0010606	Adenoid Cystic Carcinoma	1	CTD_human
DAPK1	C0023467	Leukemia, Myelocytic, Acute	1	CTD_human
DAPK1	C0026998	Acute Myeloid Leukemia, M1	1	CTD_human
DAPK1	C0087031	Juvenile-Onset Still Disease	1	CTD_human
DAPK1	C0153633	Malignant neoplasm of brain	1	CTD_human
DAPK1	C0205641	Adenocarcinoma, Basal Cell	1	CTD_human
DAPK1	C0205642	Adenocarcinoma, Oxyphilic	1	CTD_human
DAPK1	C0205643	Carcinoma, Cribriform	1	CTD_human
DAPK1	C0205644	Carcinoma, Granular Cell	1	CTD_human
DAPK1	C0205645	Adenocarcinoma, Tubular	1	CTD_human
DAPK1	C0220636	Malignant neoplasm of salivary gland	1	CTD_human
DAPK1	C0242379	Malignant neoplasm of lung	1	CTD_human
DAPK1	C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	1	CTD_human
DAPK1	C0496899	Benign neoplasm of brain, unspecified	1	CTD_human
DAPK1	C0750974	Brain Tumor, Primary	1	CTD_human
DAPK1	C0750977	Recurrent Brain Neoplasm	1	CTD_human
DAPK1	C0750979	Primary malignant neoplasm of brain	1	CTD_human
DAPK1	C0877578	Treatment related secondary malignancy	1	CTD_human
DAPK1	C1266042	Chromophobe Renal Cell Carcinoma	1	CTD_human
DAPK1	C1266043	Sarcomatoid Renal Cell Carcinoma	1	CTD_human
DAPK1	C1266044	Collecting Duct Carcinoma of the Kidney	1	CTD_human
DAPK1	C1306837	Papillary Renal Cell Carcinoma	1	CTD_human
DAPK1	C1879321	Acute Myeloid Leukemia (AML-M2)	1	CTD_human
DAPK1	C3495559	Juvenile arthritis	1	CTD_human
DAPK1	C3714758	Juvenile psoriatic arthritis	1	CTD_human
DAPK1	C4552091	Polyarthritis, Juvenile, Rheumatoid Factor Negative	1	CTD_human
DAPK1	C4704862	Polyarthritis, Juvenile, Rheumatoid Factor Positive	1	CTD_human
DARS1	C3809008	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY	3	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
DAZL	C1336708	Testicular Germ Cell Tumor	1	CTD_human
DDX1	C0014173	Endometrial Hyperplasia	1	CTD_human
DDX1	C0029231	Organic Mental Disorders, Substance-Induced	1	CTD_human
DDX1	C0038580	Substance Dependence	1	CTD_human
DDX1	C0349578	Complex Endometrial Hyperplasia	1	CTD_human
DDX1	C0349579	Atypical Endometrial Hyperplasia	1	CTD_human
DDX1	C0456483	Simple Endometrial Hyperplasia	1	CTD_human
DDX1	C0740858	Substance abuse problem	1	CTD_human
DDX3X	C0014544	Epilepsy	1	CTD_human
DDX3X	C0029408	Degenerative polyarthritis	1	CTD_human
DDX3X	C0079772	T-Cell Lymphoma	1	CTD_human
DDX3X	C0086237	Epilepsy, Cryptogenic	1	CTD_human
DDX3X	C0086743	Osteoarthrosis Deformans	1	CTD_human
DDX3X	C0345967	Malignant mesothelioma	1	CTD_human
DDX3X	C0751111	Awakening Epilepsy	1	CTD_human
DDX3X	C0796184	Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence	1	ORPHANET
DDX3X	C1961099	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	1	ORPHANET
DDX3X	C4085582	MENTAL RETARDATION, X-LINKED 102	2	CTD_human;GENOMICS_ENGLAND;UNIPROT
DDX6	C0003873	Rheumatoid Arthritis	1	CTD_human
DDX6	C0557874	Global developmental delay	1	GENOMICS_ENGLAND
DHFR	C0002888	Anemia, Megaloblastic	2	CTD_human
DHFR	C0003873	Rheumatoid Arthritis	1	CTD_human
DHFR	C0004352	Autistic Disorder	1	CTD_human
DHFR	C0006142	Malignant neoplasm of breast	2	CTD_human
DHFR	C0009402	Colorectal Carcinoma	1	CTD_human
DHFR	C0016412	Folic Acid Deficiency	1	CTD_human
DHFR	C0019193	Hepatitis, Toxic	1	CTD_human
DHFR	C0029463	Osteosarcoma	1	CTD_human
DHFR	C0030312	Pancytopenia	1	CTD_human
DHFR	C0268608	Deficiency of dihydrofolate reductase	2	GENOMICS_ENGLAND
DHFR	C0341869	Subfertility, Female	1	CTD_human
DHFR	C0678222	Breast Carcinoma	2	CTD_human
DHFR	C1257931	Mammary Neoplasms, Human	2	CTD_human
DHFR	C1262760	Hepatitis, Drug-Induced	1	CTD_human
DHFR	C3151205	Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency	4	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
DHFR	C3658290	Drug-Induced Acute Liver Injury	1	CTD_human
DHFR	C4277682	Chemical and Drug Induced Liver Injury	1	CTD_human
DHFR	C4279912	Chemically-Induced Liver Toxicity	1	CTD_human
DHFR	C4552766	Miscarriage	1	CTD_human
DHFR	C4704874	Mammary Carcinoma, Human	2	CTD_human
DHPS	C0557874	Global developmental delay	1	GENOMICS_ENGLAND
DIO2	C0005586	Bipolar Disorder	1	PSYGENET
DIO2	C0014175	Endometriosis	1	CTD_human
DIO2	C0025500	Mesothelioma	1	CTD_human
DIO2	C0269102	Endometrioma	1	CTD_human
DIO2	C1510586	Autism Spectrum Disorders	1	CTD_human
DPH1	C4310801	DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR	2	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
DRD2	C0001973	Alcoholic Intoxication, Chronic	5	PSYGENET
DRD2	C0005586	Bipolar Disorder	5	PSYGENET
DRD2	C0006870	Cannabis Dependence	2	PSYGENET
DRD2	C0007370	Catalepsy	4	CTD_human
DRD2	C0009171	Cocaine Abuse	14	CTD_human;PSYGENET
DRD2	C0011206	Delirium	2	PSYGENET
DRD2	C0011570	Mental Depression	5	PSYGENET
DRD2	C0011581	Depressive disorder	5	PSYGENET
DRD2	C0013384	Dyskinetic syndrome	1	CTD_human
DRD2	C0013386	Dyskinesia, Drug-Induced	3	CTD_human
DRD2	C0019337	Heroin Dependence	1	CTD_human
DRD2	C0020514	Hyperprolactinemia	2	CTD_human
DRD2	C0021776	Intermittent Explosive Disorder	3	CTD_human
DRD2	C0022333	Jacksonian Seizure	3	CTD_human
DRD2	C0024517	Major depression, single episode	1	PSYGENET
DRD2	C0024809	Marijuana Abuse	2	PSYGENET
DRD2	C0025261	Memory Disorders	1	CTD_human
DRD2	C0028043	Nicotine Dependence	1	CTD_human
DRD2	C0029231	Organic Mental Disorders, Substance-Induced	1	CTD_human
DRD2	C0030567	Parkinson Disease	1	CTD_human
DRD2	C0032000	Pituitary Adenoma	1	CTD_human
DRD2	C0036341	Schizophrenia	4	CTD_human
DRD2	C0038580	Substance Dependence	1	CTD_human
DRD2	C0038587	Substance Withdrawal Syndrome	1	CTD_human
DRD2	C0040332	Tobacco Dependence	1	CTD_human
DRD2	C0041671	Attention Deficit Disorder	1	CTD_human
DRD2	C0041696	Unipolar Depression	5	PSYGENET
DRD2	C0085762	Alcohol abuse	5	PSYGENET
DRD2	C0085996	Child Development Deviations	1	CTD_human
DRD2	C0085997	Child Development Disorders, Specific	1	CTD_human
DRD2	C0149958	Complex partial seizures	3	CTD_human
DRD2	C0152115	Lingual-Facial-Buccal Dyskinesia	1	CTD_human
DRD2	C0178417	Anhedonia	1	PSYGENET
DRD2	C0221169	Hemiballismus	1	CTD_human
DRD2	C0221480	Recurrent depression	1	PSYGENET
DRD2	C0234533	Generalized seizures	3	CTD_human
DRD2	C0234535	Clonic Seizures	3	CTD_human
DRD2	C0236804	Amphetamine Addiction	3	CTD_human
DRD2	C0236807	Amphetamine Abuse	3	CTD_human
DRD2	C0242423	Ramsay Hunt Paralysis Syndrome	3	CTD_human
DRD2	C0266487	Etat Marbre	1	CTD_human
DRD2	C0270824	Visual seizure	3	CTD_human
DRD2	C0270846	Epileptic drop attack	3	CTD_human
DRD2	C0346300	Pituitary carcinoma	1	CTD_human
DRD2	C0376280	Anxiety States, Neurotic	2	CTD_human
DRD2	C0454606	Oral Dyskinesia	1	CTD_human
DRD2	C0494475	Tonic - clonic seizures	3	CTD_human
DRD2	C0600241	heroin abuse	1	CTD_human
DRD2	C0600427	Cocaine Dependence	15	CTD_human;PSYGENET
DRD2	C0740858	Substance abuse problem	1	CTD_human
DRD2	C0750951	Lenticulostriate Disorders	5	CTD_human
DRD2	C0751110	Single Seizure	3	CTD_human
DRD2	C0752097	Autosomal Dominant Juvenile Parkinson Disease	3	CTD_human
DRD2	C0752098	Autosomal Dominant Parkinsonism	3	CTD_human
DRD2	C0752100	Autosomal Recessive Parkinsonism	3	CTD_human
DRD2	C0752101	Parkinsonism, Experimental	3	CTD_human
DRD2	C0752104	Familial Juvenile Parkinsonism	3	CTD_human
DRD2	C0752105	Parkinsonism, Juvenile	3	CTD_human
DRD2	C0752196	Ballismus	1	CTD_human
DRD2	C1263846	Attention deficit hyperactivity disorder	1	CTD_human
DRD2	C1269683	Major Depressive Disorder	5	PSYGENET
DRD2	C1279420	Anxiety neurosis (finding)	2	CTD_human
DRD2	C1321905	Minimal Brain Dysfunction	1	CTD_human
DRD2	C1868675	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	3	CTD_human
DRD2	C4505390	Heroin Smoking	1	CTD_human
DRD3	C0001973	Alcoholic Intoxication, Chronic	5	PSYGENET
DRD3	C0004352	Autistic Disorder	1	CTD_human
DRD3	C0005586	Bipolar Disorder	5	PSYGENET
DRD3	C0009171	Cocaine Abuse	6	CTD_human;PSYGENET
DRD3	C0011206	Delirium	2	PSYGENET
DRD3	C0011570	Mental Depression	5	PSYGENET
DRD3	C0011581	Depressive disorder	5	PSYGENET
DRD3	C0013386	Dyskinesia, Drug-Induced	1	CTD_human
DRD3	C0021776	Intermittent Explosive Disorder	3	CTD_human
DRD3	C0022333	Jacksonian Seizure	1	CTD_human
DRD3	C0030662	Gambling, Pathological	1	CTD_human
DRD3	C0036341	Schizophrenia	1	CTD_human
DRD3	C0040517	Gilles de la Tourette syndrome	1	CTD_human
DRD3	C0041696	Unipolar Depression	5	PSYGENET
DRD3	C0085762	Alcohol abuse	1	PSYGENET
DRD3	C0149958	Complex partial seizures	1	CTD_human
DRD3	C0221480	Recurrent depression	1	PSYGENET
DRD3	C0234533	Generalized seizures	1	CTD_human
DRD3	C0234535	Clonic Seizures	1	CTD_human
DRD3	C0236804	Amphetamine Addiction	1	CTD_human
DRD3	C0236807	Amphetamine Abuse	1	CTD_human
DRD3	C0266487	Etat Marbre	1	CTD_human
DRD3	C0270824	Visual seizure	1	CTD_human
DRD3	C0270846	Epileptic drop attack	1	CTD_human
DRD3	C0494475	Tonic - clonic seizures	1	CTD_human
DRD3	C0600427	Cocaine Dependence	7	CTD_human;PSYGENET
DRD3	C0750951	Lenticulostriate Disorders	1	CTD_human
DRD3	C0751110	Single Seizure	1	CTD_human
DRD3	C1269683	Major Depressive Disorder	5	PSYGENET
DRD4	C0001969	Alcoholic Intoxication	3	PSYGENET
DRD4	C0001973	Alcoholic Intoxication, Chronic	5	PSYGENET
DRD4	C0003477	Separation Anxiety Disorder	1	CTD_human
DRD4	C0005586	Bipolar Disorder	5	PSYGENET
DRD4	C0011570	Mental Depression	5	PSYGENET
DRD4	C0011581	Depressive disorder	5	PSYGENET
DRD4	C0012734	Disruptive Behavior Disorder	1	CTD_human
DRD4	C0024809	Marijuana Abuse	4	PSYGENET
DRD4	C0029121	Oppositional Defiant Disorder	1	CTD_human
DRD4	C0036341	Schizophrenia	1	CTD_human
DRD4	C0040188	Tic disorder	1	CTD_human
DRD4	C0040702	Transient Tic Disorder	1	CTD_human
DRD4	C0041671	Attention Deficit Disorder	4	CTD_human
DRD4	C0041696	Unipolar Depression	5	PSYGENET
DRD4	C0085159	Seasonal Affective Disorder	4	PSYGENET
DRD4	C0085762	Alcohol abuse	2	PSYGENET
DRD4	C0233477	Dysphoric mood	1	PSYGENET
DRD4	C0236804	Amphetamine Addiction	1	CTD_human
DRD4	C0236807	Amphetamine Abuse	1	CTD_human
DRD4	C0338468	Tic Disorders, Vocal	1	CTD_human
DRD4	C0751553	Childhood Tic Disorders	1	CTD_human
DRD4	C0751554	Motor Tic Disorders	1	CTD_human
DRD4	C1263846	Attention deficit hyperactivity disorder	4	CTD_human
DRD4	C1269683	Major Depressive Disorder	5	PSYGENET
DRD4	C1321905	Minimal Brain Dysfunction	4	CTD_human
DRD4	C3160814	Cannabis use	1	PSYGENET
EEF1A1	C0024623	Malignant neoplasm of stomach	1	CTD_human
EEF1A1	C0205696	Anaplastic carcinoma	1	CTD_human
EEF1A1	C0205697	Carcinoma, Spindle-Cell	1	CTD_human
EEF1A1	C0205698	Undifferentiated carcinoma	1	CTD_human
EEF1A1	C1257925	Mammary Carcinoma, Animal	1	CTD_human
EEF1A1	C1708349	Hereditary Diffuse Gastric Cancer	1	CTD_human
EEF1A2	C0014544	Epilepsy	1	CTD_human
EEF1A2	C0024623	Malignant neoplasm of stomach	1	CTD_human
EEF1A2	C0086237	Epilepsy, Cryptogenic	1	CTD_human
EEF1A2	C0751111	Awakening Epilepsy	1	CTD_human
EEF1A2	C1708349	Hereditary Diffuse Gastric Cancer	1	CTD_human
EEF1A2	C4225337	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33	3	CTD_human;GENOMICS_ENGLAND;UNIPROT
EEF1A2	C4225343	MENTAL RETARDATION, AUTOSOMAL DOMINANT 38	1	CTD_human;UNIPROT
EEF1B2	C0006142	Malignant neoplasm of breast	1	CTD_human
EEF1B2	C0020796	Profound Mental Retardation	1	CTD_human
EEF1B2	C0678222	Breast Carcinoma	1	CTD_human
EEF1B2	C0917816	Mental deficiency	1	CTD_human
EEF1B2	C1257931	Mammary Neoplasms, Human	1	CTD_human
EEF1B2	C4704874	Mammary Carcinoma, Human	1	CTD_human
EEF2	C0006142	Malignant neoplasm of breast	1	CTD_human
EEF2	C0007134	Renal Cell Carcinoma	1	CTD_human
EEF2	C0029408	Degenerative polyarthritis	1	CTD_human
EEF2	C0086743	Osteoarthrosis Deformans	1	CTD_human
EEF2	C0205641	Adenocarcinoma, Basal Cell	1	CTD_human
EEF2	C0205642	Adenocarcinoma, Oxyphilic	1	CTD_human
EEF2	C0205643	Carcinoma, Cribriform	1	CTD_human
EEF2	C0205644	Carcinoma, Granular Cell	1	CTD_human
EEF2	C0205645	Adenocarcinoma, Tubular	1	CTD_human
EEF2	C0242379	Malignant neoplasm of lung	1	CTD_human
EEF2	C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	1	CTD_human
EEF2	C0678222	Breast Carcinoma	1	CTD_human
EEF2	C1257931	Mammary Neoplasms, Human	1	CTD_human
EEF2	C1266042	Chromophobe Renal Cell Carcinoma	1	CTD_human
EEF2	C1266043	Sarcomatoid Renal Cell Carcinoma	1	CTD_human
EEF2	C1266044	Collecting Duct Carcinoma of the Kidney	1	CTD_human
EEF2	C1306837	Papillary Renal Cell Carcinoma	1	CTD_human
EEF2	C1836395	SPINOCEREBELLAR ATAXIA 26	1	CTD_human;ORPHANET;UNIPROT
EEF2	C4704874	Mammary Carcinoma, Human	1	CTD_human
EIF1AX	C0220633	Uveal melanoma	1	CTD_human
EIF1AX	C0238463	Papillary thyroid carcinoma	1	ORPHANET
EIF2S1	C0002395	Alzheimer's Disease	1	CTD_human
EIF2S1	C0011265	Presenile dementia	1	CTD_human
EIF2S1	C0029463	Osteosarcoma	1	CTD_human
EIF2S1	C0036341	Schizophrenia	1	PSYGENET
EIF2S1	C0038220	Status Epilepticus	1	CTD_human
EIF2S1	C0270823	Petit mal status	1	CTD_human
EIF2S1	C0276496	Familial Alzheimer Disease (FAD)	1	CTD_human
EIF2S1	C0311335	Grand Mal Status Epilepticus	1	CTD_human
EIF2S1	C0393734	Complex Partial Status Epilepticus	1	CTD_human
EIF2S1	C0494463	Alzheimer Disease, Late Onset	1	CTD_human
EIF2S1	C0546126	Acute Confusional Senile Dementia	1	CTD_human
EIF2S1	C0750900	Alzheimer's Disease, Focal Onset	1	CTD_human
EIF2S1	C0750901	Alzheimer Disease, Early Onset	1	CTD_human
EIF2S1	C0751522	Status Epilepticus, Subclinical	1	CTD_human
EIF2S1	C0751523	Non-Convulsive Status Epilepticus	1	CTD_human
EIF2B1	C0152013	Adenocarcinoma of lung (disorder)	1	CTD_human
EIF2B1	C1847967	OVARIOLEUKODYSTROPHY	1	CTD_human;ORPHANET
EIF2B1	C1858991	Childhood Ataxia with Central Nervous System Hypomyelinization	6	GENOMICS_ENGLAND;ORPHANET;UNIPROT
EIF2S3	C0011847	Diabetes	1	GENOMICS_ENGLAND
EIF2S3	C0014544	Epilepsy	1	GENOMICS_ENGLAND
EIF2S3	C0020619	Hypogonadism	1	GENOMICS_ENGLAND
EIF2S3	C0025958	Microcephaly	1	GENOMICS_ENGLAND
EIF2S3	C1846278	MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder)	4	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
EIF4A1	C4505456	HIV Coinfection	1	CTD_human
EIF4A2	C0001969	Alcoholic Intoxication	1	PSYGENET
EIF4A2	C0394996	Acute alcoholic intoxication	1	PSYGENET
EIF4B	C0041696	Unipolar Depression	1	PSYGENET
EIF4B	C1269683	Major Depressive Disorder	1	PSYGENET
EIF4E	C0334634	Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	1	CTD_human
EIF4E	C0751958	Lymphoma, Lymphocytic, Intermediate	1	CTD_human
EIF4EBP1	C0022665	Kidney Neoplasm	1	CTD_human
EIF4EBP1	C0023467	Leukemia, Myelocytic, Acute	1	CTD_human
EIF4EBP1	C0026998	Acute Myeloid Leukemia, M1	1	CTD_human
EIF4EBP1	C0282313	Condition, Preneoplastic	1	CTD_human
EIF4EBP1	C0334634	Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	1	CTD_human
EIF4EBP1	C0740457	Malignant neoplasm of kidney	1	CTD_human
EIF4EBP1	C0751958	Lymphoma, Lymphocytic, Intermediate	1	CTD_human
EIF4EBP1	C1879321	Acute Myeloid Leukemia (AML-M2)	1	CTD_human
EIF4EBP1	C4505456	HIV Coinfection	1	CTD_human
EIF4EBP2	C0019193	Hepatitis, Toxic	1	CTD_human
EIF4EBP2	C1262760	Hepatitis, Drug-Induced	1	CTD_human
EIF4EBP2	C3658290	Drug-Induced Acute Liver Injury	1	CTD_human
EIF4EBP2	C4277682	Chemical and Drug Induced Liver Injury	1	CTD_human
EIF4EBP2	C4279912	Chemically-Induced Liver Toxicity	1	CTD_human
EIF4G1	C3280271	PARKINSON DISEASE 18	3	CTD_human;GENOMICS_ENGLAND;UNIPROT
EIF5	C0036341	Schizophrenia	1	CTD_human
EIF5A	C0022548	Keloid	1	CTD_human
EIF5A	C0205696	Anaplastic carcinoma	1	CTD_human
EIF5A	C0205697	Carcinoma, Spindle-Cell	1	CTD_human
EIF5A	C0205698	Undifferentiated carcinoma	1	CTD_human
EIF5A	C1257925	Mammary Carcinoma, Animal	1	CTD_human
ELAVL1	C0014175	Endometriosis	1	CTD_human
ELAVL1	C0269102	Endometrioma	1	CTD_human
EPRS1	C4693733	LEUKODYSTROPHY, HYPOMYELINATING, 15	1	UNIPROT
ERBB2	C0006142	Malignant neoplasm of breast	40	CGI;CTD_human
ERBB2	C0007102	Malignant tumor of colon	1	CTD_human
ERBB2	C0007134	Renal Cell Carcinoma	1	CTD_human
ERBB2	C0013930	Embolism, Tumor	1	CTD_human
ERBB2	C0016978	gallbladder neoplasm	1	CTD_human
ERBB2	C0021367	Mammary Ductal Carcinoma	1	CTD_human
ERBB2	C0024232	Lymphatic Metastasis	1	CTD_human
ERBB2	C0024623	Malignant neoplasm of stomach	3	CGI;CTD_human
ERBB2	C0025149	Medulloblastoma	1	CTD_human
ERBB2	C0030354	Papilloma	1	CTD_human
ERBB2	C0153452	Malignant neoplasm of gallbladder	1	CTD_human
ERBB2	C0205641	Adenocarcinoma, Basal Cell	2	CTD_human
ERBB2	C0205642	Adenocarcinoma, Oxyphilic	2	CTD_human
ERBB2	C0205643	Carcinoma, Cribriform	2	CTD_human
ERBB2	C0205644	Carcinoma, Granular Cell	2	CTD_human
ERBB2	C0205645	Adenocarcinoma, Tubular	2	CTD_human
ERBB2	C0205833	Medullomyoblastoma	1	CTD_human
ERBB2	C0205874	Papilloma, Squamous Cell	1	CTD_human
ERBB2	C0205875	Papillomatosis	1	CTD_human
ERBB2	C0206698	Cholangiocarcinoma	1	CTD_human
ERBB2	C0242379	Malignant neoplasm of lung	1	CTD_human
ERBB2	C0278510	Childhood Medulloblastoma	1	CTD_human
ERBB2	C0278876	Adult Medulloblastoma	1	CTD_human
ERBB2	C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	1	CTD_human
ERBB2	C0345905	Intrahepatic Cholangiocarcinoma	1	CTD_human
ERBB2	C0376358	Malignant neoplasm of prostate	3	CTD_human
ERBB2	C0546837	Malignant neoplasm of esophagus	1	CTD_human
ERBB2	C0678222	Breast Carcinoma	40	CGI;CTD_human
ERBB2	C0684249	Carcinoma of lung	1	UNIPROT
ERBB2	C0685938	Malignant neoplasm of gastrointestinal tract	1	CTD_human
ERBB2	C0699791	Stomach Carcinoma	2	CGI;UNIPROT
ERBB2	C0751291	Desmoplastic Medulloblastoma	1	CTD_human
ERBB2	C0919267	ovarian neoplasm	2	CGI;CTD_human
ERBB2	C1134719	Invasive Ductal Breast Carcinoma	1	CTD_human
ERBB2	C1140680	Malignant neoplasm of ovary	4	CGI;CTD_human;UNIPROT
ERBB2	C1257925	Mammary Carcinoma, Animal	1	CTD_human
ERBB2	C1257931	Mammary Neoplasms, Human	40	CTD_human
ERBB2	C1266042	Chromophobe Renal Cell Carcinoma	1	CTD_human
ERBB2	C1266043	Sarcomatoid Renal Cell Carcinoma	1	CTD_human
ERBB2	C1266044	Collecting Duct Carcinoma of the Kidney	1	CTD_human
ERBB2	C1275668	Melanotic medulloblastoma	1	CTD_human
ERBB2	C1306837	Papillary Renal Cell Carcinoma	1	CTD_human
ERBB2	C1368275	Pigmented Basal Cell Carcinoma	1	CTD_human
ERBB2	C1708349	Hereditary Diffuse Gastric Cancer	3	CTD_human
ERBB2	C2931822	Nasopharyngeal carcinoma	1	CTD_human
ERBB2	C3805278	Extrahepatic Cholangiocarcinoma	1	CTD_human
ERBB2	C4704874	Mammary Carcinoma, Human	40	CTD_human
ERBB2	C4721610	Carcinoma, Ovarian Epithelial	1	CTD_human
ERBB2	C4721806	Carcinoma, Basal Cell	1	CTD_human
PTK2B	C0001973	Alcoholic Intoxication, Chronic	1	PSYGENET
PTK2B	C0007114	Malignant neoplasm of skin	1	CTD_human
PTK2B	C0025202	melanoma	1	CTD_human
PTK2B	C0038220	Status Epilepticus	1	CTD_human
PTK2B	C0270823	Petit mal status	1	CTD_human
PTK2B	C0311335	Grand Mal Status Epilepticus	1	CTD_human
PTK2B	C0393734	Complex Partial Status Epilepticus	1	CTD_human
PTK2B	C0751522	Status Epilepticus, Subclinical	1	CTD_human
PTK2B	C0751523	Non-Convulsive Status Epilepticus	1	CTD_human
FOXO3	C0002152	Alloxan Diabetes	2	CTD_human
FOXO3	C0007131	Non-Small Cell Lung Carcinoma	1	CTD_human
FOXO3	C0010606	Adenoid Cystic Carcinoma	1	CTD_human
FOXO3	C0011853	Diabetes Mellitus, Experimental	2	CTD_human
FOXO3	C0014072	Experimental Autoimmune Encephalomyelitis	1	CTD_human
FOXO3	C0024117	Chronic Obstructive Airway Disease	1	CTD_human
FOXO3	C0028754	Obesity	1	CTD_human
FOXO3	C0038433	Streptozotocin Diabetes	2	CTD_human
FOXO3	C0152013	Adenocarcinoma of lung (disorder)	1	CTD_human
FOXO3	C1527303	Chronic Airflow Obstruction	1	CTD_human
FMR1	C0004352	Autistic Disorder	5	CTD_human
FMR1	C0016667	Fragile X Syndrome	37	CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
FMR1	C0018051	Gonadal Dysgenesis	1	CTD_human
FMR1	C0020796	Profound Mental Retardation	2	CTD_human
FMR1	C0036341	Schizophrenia	2	PSYGENET
FMR1	C0041696	Unipolar Depression	2	PSYGENET
FMR1	C0085215	Ovarian Failure, Premature	1	CTD_human
FMR1	C0086367	Gonadotropin-Resistant Ovary Syndrome	1	CTD_human
FMR1	C0338908	Mixed anxiety and depressive disorder	1	PSYGENET
FMR1	C0376280	Anxiety States, Neurotic	1	CTD_human
FMR1	C0751156	FRAXA Syndrome	8	CTD_human
FMR1	C0751157	FRAXE Syndrome	8	CTD_human
FMR1	C0917816	Mental deficiency	2	CTD_human
FMR1	C0949331	Gonadal Agenesis	1	CTD_human
FMR1	C1269683	Major Depressive Disorder	2	PSYGENET
FMR1	C1279420	Anxiety neurosis (finding)	1	CTD_human
FMR1	C1839780	FRAGILE X TREMOR/ATAXIA SYNDROME	2	CTD_human;GENOMICS_ENGLAND;ORPHANET
FMR1	C3275521	CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME	1	ORPHANET
FMR1	C3494522	Hypergonadotropic Ovarian Failure, X-Linked	1	CTD_human
FMR1	C4552079	Premature Ovarian Failure 1	1	CTD_human;GENOMICS_ENGLAND
MTOR	C0006142	Malignant neoplasm of breast	1	CTD_human
MTOR	C0007102	Malignant tumor of colon	1	CTD_human
MTOR	C0007131	Non-Small Cell Lung Carcinoma	1	CTD_human
MTOR	C0007134	Renal Cell Carcinoma	1	CTD_human
MTOR	C0007873	Uterine Cervical Neoplasm	1	CTD_human
MTOR	C0017636	Glioblastoma	1	CTD_human
MTOR	C0024232	Lymphatic Metastasis	1	CTD_human
MTOR	C0025500	Mesothelioma	1	CTD_human
MTOR	C0034069	Pulmonary Fibrosis	1	CTD_human
MTOR	C0036341	Schizophrenia	1	CTD_human
MTOR	C0041696	Unipolar Depression	2	PSYGENET
MTOR	C0149504	Encephalopathy, Toxic	1	CTD_human
MTOR	C0149721	Left Ventricular Hypertrophy	1	CTD_human
MTOR	C0154659	Toxic Encephalitis	1	CTD_human
MTOR	C0205641	Adenocarcinoma, Basal Cell	1	CTD_human
MTOR	C0205642	Adenocarcinoma, Oxyphilic	1	CTD_human
MTOR	C0205643	Carcinoma, Cribriform	1	CTD_human
MTOR	C0205644	Carcinoma, Granular Cell	1	CTD_human
MTOR	C0205645	Adenocarcinoma, Tubular	1	CTD_human
MTOR	C0262584	Carcinoma, Small Cell	1	CTD_human
MTOR	C0267963	Exocrine pancreatic insufficiency	1	CTD_human
MTOR	C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	1	CGI;CTD_human
MTOR	C0334588	Giant Cell Glioblastoma	1	CTD_human
MTOR	C0334634	Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	1	CTD_human
MTOR	C0431380	Cortical Dysplasia	1	CTD_human
MTOR	C0431391	Hemimegalencephaly	1	GENOMICS_ENGLAND
MTOR	C0543888	Epileptic encephalopathy	1	GENOMICS_ENGLAND
MTOR	C0588006	Mild depression	1	PSYGENET
MTOR	C0678222	Breast Carcinoma	1	CTD_human
MTOR	C0751958	Lymphoma, Lymphocytic, Intermediate	1	CTD_human
MTOR	C0919267	ovarian neoplasm	2	CTD_human
MTOR	C1140680	Malignant neoplasm of ovary	2	CTD_human
MTOR	C1257931	Mammary Neoplasms, Human	1	CTD_human
MTOR	C1266042	Chromophobe Renal Cell Carcinoma	1	CTD_human
MTOR	C1266043	Sarcomatoid Renal Cell Carcinoma	1	CTD_human
MTOR	C1266044	Collecting Duct Carcinoma of the Kidney	1	CTD_human
MTOR	C1269683	Major Depressive Disorder	2	PSYGENET
MTOR	C1306837	Papillary Renal Cell Carcinoma	1	CTD_human
MTOR	C1621958	Glioblastoma Multiforme	1	CTD_human;UNIPROT
MTOR	C1846385	FOCAL CORTICAL DYSPLASIA OF TAYLOR	5	CTD_human;GENOMICS_ENGLAND;UNIPROT
MTOR	C1955869	Malformations of Cortical Development	1	CTD_human
MTOR	C1961099	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	1	CTD_human
MTOR	C2239176	Liver carcinoma	1	CTD_human
MTOR	C4048328	cervical cancer	1	CTD_human
MTOR	C4225259	SMITH-KINGSMORE SYNDROME	5	GENOMICS_ENGLAND;ORPHANET;UNIPROT
MTOR	C4704874	Mammary Carcinoma, Human	1	CTD_human
MTOR	C4721507	Alveolitis, Fibrosing	1	CTD_human
GAPDH	C0001787	Osteoporosis, Age-Related	1	CTD_human
GAPDH	C0001973	Alcoholic Intoxication, Chronic	1	PSYGENET
GAPDH	C0007137	Squamous cell carcinoma	1	CTD_human
GAPDH	C0009402	Colorectal Carcinoma	1	CTD_human
GAPDH	C0029408	Degenerative polyarthritis	1	CTD_human
GAPDH	C0029456	Osteoporosis	1	CTD_human
GAPDH	C0029459	Osteoporosis, Senile	1	CTD_human
GAPDH	C0086743	Osteoarthrosis Deformans	1	CTD_human
GAPDH	C0152013	Adenocarcinoma of lung (disorder)	1	CTD_human
GAPDH	C0546837	Malignant neoplasm of esophagus	1	CTD_human
GAPDH	C0751406	Post-Traumatic Osteoporosis	1	CTD_human
GAPDH	C0948089	Acute Coronary Syndrome	1	CTD_human
GAPDH	C2239176	Liver carcinoma	2	CTD_human
GARS1	C1832274	Charcot-Marie-Tooth disease, Type 2D	9	CTD_human;UNIPROT
GARS1	C1833308	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	5	CTD_human;ORPHANET;UNIPROT
GLE1	C0002736	Amyotrophic Lateral Sclerosis	1	ORPHANET
GLE1	C1854664	LETHAL CONGENITAL CONTRACTURE SYNDROME 1	3	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
GLE1	C2678471	Lethal Arthrogryposis With Anterior Horn Cell Disease	3	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
GRB7	C0006142	Malignant neoplasm of breast	2	CTD_human
GRB7	C0007134	Renal Cell Carcinoma	1	CTD_human
GRB7	C0205641	Adenocarcinoma, Basal Cell	1	CTD_human
GRB7	C0205642	Adenocarcinoma, Oxyphilic	1	CTD_human
GRB7	C0205643	Carcinoma, Cribriform	1	CTD_human
GRB7	C0205644	Carcinoma, Granular Cell	1	CTD_human
GRB7	C0205645	Adenocarcinoma, Tubular	1	CTD_human
GRB7	C0242379	Malignant neoplasm of lung	1	CTD_human
GRB7	C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	1	CTD_human
GRB7	C0376358	Malignant neoplasm of prostate	1	CTD_human
GRB7	C0678222	Breast Carcinoma	2	CTD_human
GRB7	C1257931	Mammary Neoplasms, Human	2	CTD_human
GRB7	C1266042	Chromophobe Renal Cell Carcinoma	1	CTD_human
GRB7	C1266043	Sarcomatoid Renal Cell Carcinoma	1	CTD_human
GRB7	C1266044	Collecting Duct Carcinoma of the Kidney	1	CTD_human
GRB7	C1306837	Papillary Renal Cell Carcinoma	1	CTD_human
GRB7	C4704874	Mammary Carcinoma, Human	2	CTD_human
GRM5	C0005586	Bipolar Disorder	1	PSYGENET
GRM5	C0009171	Cocaine Abuse	1	CTD_human
GRM5	C0014556	Epilepsy, Temporal Lobe	1	CTD_human
GRM5	C0014558	Uncinate Epilepsy	1	CTD_human
GRM5	C0029231	Organic Mental Disorders, Substance-Induced	1	CTD_human
GRM5	C0036341	Schizophrenia	3	PSYGENET
GRM5	C0038220	Status Epilepticus	2	CTD_human
GRM5	C0038580	Substance Dependence	1	CTD_human
GRM5	C0041671	Attention Deficit Disorder	2	CTD_human
GRM5	C0041696	Unipolar Depression	3	PSYGENET
GRM5	C0270823	Petit mal status	2	CTD_human
GRM5	C0271673	Symmetric Diabetic Proximal Motor Neuropathy	1	CTD_human
GRM5	C0271674	Asymmetric Diabetic Proximal Motor Neuropathy	1	CTD_human
GRM5	C0271678	Diabetic Mononeuropathy	1	CTD_human
GRM5	C0271685	Diabetic Amyotrophy	1	CTD_human
GRM5	C0271686	Diabetic Autonomic Neuropathy	1	CTD_human
GRM5	C0311335	Grand Mal Status Epilepticus	2	CTD_human
GRM5	C0393672	Epilepsy, Benign Psychomotor, Childhood	1	CTD_human
GRM5	C0393682	Epilepsy, Lateral Temporal	1	CTD_human
GRM5	C0393734	Complex Partial Status Epilepticus	2	CTD_human
GRM5	C0393835	Diabetic Asymmetric Polyneuropathy	1	CTD_human
GRM5	C0600427	Cocaine Dependence	1	CTD_human
GRM5	C0740858	Substance abuse problem	1	CTD_human
GRM5	C0751074	Diabetic Neuralgia	1	CTD_human
GRM5	C0751522	Status Epilepticus, Subclinical	2	CTD_human
GRM5	C0751523	Non-Convulsive Status Epilepticus	2	CTD_human
GRM5	C1263846	Attention deficit hyperactivity disorder	2	CTD_human
GRM5	C1269683	Major Depressive Disorder	3	PSYGENET
GRM5	C1321905	Minimal Brain Dysfunction	2	CTD_human
GZMB	C0004352	Autistic Disorder	1	CTD_human
GZMB	C0006142	Malignant neoplasm of breast	1	CTD_human
GZMB	C0678222	Breast Carcinoma	1	CTD_human
GZMB	C1257931	Mammary Neoplasms, Human	1	CTD_human
GZMB	C4704874	Mammary Carcinoma, Human	1	CTD_human
HARS1	C0007134	Renal Cell Carcinoma	1	CTD_human
HARS1	C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	1	CTD_human
HARS1	C1266042	Chromophobe Renal Cell Carcinoma	1	CTD_human
HARS1	C1266043	Sarcomatoid Renal Cell Carcinoma	1	CTD_human
HARS1	C1266044	Collecting Duct Carcinoma of the Kidney	1	CTD_human
HARS1	C1306837	Papillary Renal Cell Carcinoma	1	CTD_human
HARS1	C1568248	Usher Syndrome, Type III	1	ORPHANET
HARS1	C3281066	USHER SYNDROME, TYPE IIIB	2	CTD_human;GENOMICS_ENGLAND;UNIPROT
HARS1	C4225265	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W	3	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HNRNPU	C0014544	Epilepsy	1	CTD_human
HNRNPU	C0086237	Epilepsy, Cryptogenic	1	CTD_human
HNRNPU	C0543888	Epileptic encephalopathy	2	GENOMICS_ENGLAND
HNRNPU	C0751111	Awakening Epilepsy	1	CTD_human
HNRNPU	C4304540	1q44 microdeletion syndrome	1	ORPHANET
HNRNPU	C4479319	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54	2	CTD_human;GENOMICS_ENGLAND
HSPB1	C0007102	Malignant tumor of colon	1	CTD_human
HSPB1	C0007134	Renal Cell Carcinoma	1	CTD_human
HSPB1	C0007137	Squamous cell carcinoma	1	CTD_human
HSPB1	C0007194	Hypertrophic Cardiomyopathy	1	CTD_human
HSPB1	C0011616	Contact Dermatitis	1	CTD_human
HSPB1	C0018801	Heart failure	1	CTD_human
HSPB1	C0018802	Congestive heart failure	1	CTD_human
HSPB1	C0023212	Left-Sided Heart Failure	1	CTD_human
HSPB1	C0023467	Leukemia, Myelocytic, Acute	1	CTD_human
HSPB1	C0024623	Malignant neoplasm of stomach	1	CTD_human
HSPB1	C0026764	Multiple Myeloma	1	CTD_human
HSPB1	C0026998	Acute Myeloid Leukemia, M1	1	CTD_human
HSPB1	C0035126	Reperfusion Injury	1	CTD_human
HSPB1	C0038220	Status Epilepticus	1	CTD_human
HSPB1	C0152013	Adenocarcinoma of lung (disorder)	1	CTD_human
HSPB1	C0153349	Malignant neoplasm of tongue	1	CTD_human
HSPB1	C0235527	Heart Failure, Right-Sided	1	CTD_human
HSPB1	C0270823	Petit mal status	1	CTD_human
HSPB1	C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	1	CTD_human
HSPB1	C0311335	Grand Mal Status Epilepticus	1	CTD_human
HSPB1	C0393734	Complex Partial Status Epilepticus	1	CTD_human
HSPB1	C0751522	Status Epilepticus, Subclinical	1	CTD_human
HSPB1	C0751523	Non-Convulsive Status Epilepticus	1	CTD_human
HSPB1	C1266042	Chromophobe Renal Cell Carcinoma	1	CTD_human
HSPB1	C1266043	Sarcomatoid Renal Cell Carcinoma	1	CTD_human
HSPB1	C1266044	Collecting Duct Carcinoma of the Kidney	1	CTD_human
HSPB1	C1306837	Papillary Renal Cell Carcinoma	1	CTD_human
HSPB1	C1708349	Hereditary Diffuse Gastric Cancer	1	CTD_human
HSPB1	C1847823	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	6	CTD_human;GENOMICS_ENGLAND;UNIPROT
HSPB1	C1854023	Spinal muscular atrophy, Jerash type	1	ORPHANET
HSPB1	C1879321	Acute Myeloid Leukemia (AML-M2)	1	CTD_human
HSPB1	C1959583	Myocardial Failure	1	CTD_human
HSPB1	C2239176	Liver carcinoma	1	CTD_human
HSPB1	C2608087	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	13	CTD_human;GENOMICS_ENGLAND;UNIPROT
HSPB1	C3711384	Distal Hereditary Motor Neuropathy, Type II	1	ORPHANET
HSPB1	C4505456	HIV Coinfection	1	CTD_human
HSPB1	C4551472	Hypertrophic obstructive cardiomyopathy	1	CTD_human
IARS1	C0025958	Microcephaly	1	GENOMICS_ENGLAND
IARS1	C4310720	GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY	3	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
IGFBP5	C0005684	Malignant neoplasm of urinary bladder	1	CTD_human
IGFBP5	C0005695	Bladder Neoplasm	1	CTD_human
IGFBP5	C0006142	Malignant neoplasm of breast	1	CTD_human
IGFBP5	C0678222	Breast Carcinoma	1	CTD_human
IGFBP5	C1257931	Mammary Neoplasms, Human	1	CTD_human
IGFBP5	C4704874	Mammary Carcinoma, Human	1	CTD_human
IGHMBP2	C1858517	SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1	8	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
IGHMBP2	C4015349	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S	2	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
IL6	C0001787	Osteoporosis, Age-Related	1	CTD_human
IL6	C0001973	Alcoholic Intoxication, Chronic	2	PSYGENET
IL6	C0002152	Alloxan Diabetes	1	CTD_human
IL6	C0002622	Amnesia	1	CTD_human
IL6	C0003865	Arthritis, Adjuvant-Induced	3	CTD_human
IL6	C0003873	Rheumatoid Arthritis	2	CTD_human
IL6	C0004096	Asthma	1	CTD_human
IL6	C0004153	Atherosclerosis	1	CTD_human
IL6	C0004352	Autistic Disorder	1	CTD_human
IL6	C0005138	Berylliosis	1	CTD_human
IL6	C0005398	Cholestasis, Extrahepatic	1	CTD_human
IL6	C0005586	Bipolar Disorder	2	PSYGENET
IL6	C0006142	Malignant neoplasm of breast	4	CTD_human
IL6	C0007134	Renal Cell Carcinoma	1	CTD_human
IL6	C0007137	Squamous cell carcinoma	1	CTD_human
IL6	C0007786	Brain Ischemia	2	CTD_human
IL6	C0008370	Cholestasis	1	CTD_human
IL6	C0009319	Colitis	2	CTD_human
IL6	C0010346	Crohn Disease	2	CTD_human
IL6	C0011206	Delirium	5	PSYGENET
IL6	C0011570	Mental Depression	5	PSYGENET
IL6	C0011573	Endogenous depression	1	CTD_human
IL6	C0011581	Depressive disorder	6	CTD_human;PSYGENET
IL6	C0011615	Dermatitis, Atopic	1	CTD_human
IL6	C0011853	Diabetes Mellitus, Experimental	1	CTD_human
IL6	C0014324	Entamoebiasis	1	CTD_human
IL6	C0017531	Angiolymphoid hyperplasia	1	CTD_human
IL6	C0017658	Glomerulonephritis	1	CTD_human
IL6	C0018801	Heart failure	2	CTD_human
IL6	C0018802	Congestive heart failure	2	CTD_human
IL6	C0019061	Hemolytic-Uremic Syndrome	1	CTD_human
IL6	C0019193	Hepatitis, Toxic	2	CTD_human
IL6	C0019202	Hepatolenticular Degeneration	1	CTD_human
IL6	C0019207	Hepatoma, Morris	1	CTD_human
IL6	C0019208	Hepatoma, Novikoff	1	CTD_human
IL6	C0020437	Hypercalcemia	1	CTD_human
IL6	C0020456	Hyperglycemia	1	CTD_human
IL6	C0020500	Hyperoxaluria	1	CTD_human
IL6	C0020503	Hyperparathyroidism, Secondary	1	CTD_human
IL6	C0022333	Jacksonian Seizure	1	CTD_human
IL6	C0022660	Kidney Failure, Acute	1	CTD_human
IL6	C0022661	Kidney Failure, Chronic	1	CTD_human
IL6	C0023212	Left-Sided Heart Failure	2	CTD_human
IL6	C0023281	Leishmaniasis	1	CTD_human
IL6	C0023290	Leishmaniasis, Visceral	3	CTD_human
IL6	C0023434	Chronic Lymphocytic Leukemia	1	CTD_human
IL6	C0023890	Liver Cirrhosis	1	CTD_human
IL6	C0023891	Liver Cirrhosis, Alcoholic	1	CTD_human
IL6	C0024117	Chronic Obstructive Airway Disease	1	CTD_human
IL6	C0024141	Lupus Erythematosus, Systemic	1	CTD_human
IL6	C0024623	Malignant neoplasm of stomach	1	CTD_human
IL6	C0025193	Melancholia	1	CTD_human
IL6	C0025290	Aseptic Meningitis	1	CTD_human
IL6	C0026141	Milk-Alkali Syndrome	1	CTD_human
IL6	C0026764	Multiple Myeloma	3	CTD_human
IL6	C0027051	Myocardial Infarction	2	CTD_human
IL6	C0027059	Myocarditis	1	CTD_human
IL6	C0028043	Nicotine Dependence	1	CTD_human
IL6	C0028754	Obesity	2	CTD_human
IL6	C0029172	Oral Submucous Fibrosis	1	CTD_human
IL6	C0029456	Osteoporosis	1	CTD_human
IL6	C0029458	Osteoporosis, Postmenopausal	1	CTD_human
IL6	C0029459	Osteoporosis, Senile	1	CTD_human
IL6	C0030246	Pustulosis of Palms and Soles	1	CTD_human
IL6	C0030567	Parkinson Disease	1	CTD_human
IL6	C0032231	Pleurisy	1	CTD_human
IL6	C0032285	Pneumonia	1	CTD_human
IL6	C0032300	Lobar Pneumonia	1	CTD_human
IL6	C0032963	Pregnancy Complications, Cardiovascular	1	CTD_human
IL6	C0033860	Psoriasis	1	CTD_human
IL6	C0034069	Pulmonary Fibrosis	2	CTD_human
IL6	C0035126	Reperfusion Injury	5	CTD_human
IL6	C0036341	Schizophrenia	1	CTD_human
IL6	C0038433	Streptozotocin Diabetes	1	CTD_human
IL6	C0040136	Thyroid Neoplasm	1	CTD_human
IL6	C0040332	Tobacco Dependence	1	CTD_human
IL6	C0041696	Unipolar Depression	6	CTD_human;PSYGENET
IL6	C0085655	Polymyositis	1	CTD_human
IL6	C0086133	Depressive Syndrome	1	CTD_human
IL6	C0086196	Eczema, Infantile	1	CTD_human
IL6	C0086404	Experimental Hepatoma	1	CTD_human
IL6	C0149958	Complex partial seizures	1	CTD_human
IL6	C0151468	Thyroid Gland Follicular Adenoma	1	CTD_human
IL6	C0151744	Myocardial Ischemia	1	CTD_human
IL6	C0156147	Crohn's disease of large bowel	2	CTD_human
IL6	C0162668	Megaconial Myopathies	1	CTD_human
IL6	C0162669	Pleoconial Myopathies	1	CTD_human
IL6	C0206698	Cholangiocarcinoma	1	CTD_human
IL6	C0234533	Generalized seizures	1	CTD_human
IL6	C0234535	Clonic Seizures	1	CTD_human
IL6	C0235527	Heart Failure, Right-Sided	2	CTD_human
IL6	C0239946	Fibrosis, Liver	1	CTD_human
IL6	C0239981	Hypoalbuminemia	1	CTD_human
IL6	C0241910	Autoimmune Chronic Hepatitis	1	CTD_human
IL6	C0242379	Malignant neoplasm of lung	1	CTD_human
IL6	C0242380	Libman-Sacks Disease	1	CTD_human
IL6	C0263984	Polymyositis Ossificans	1	CTD_human
IL6	C0267380	Crohn's disease of the ileum	2	CTD_human
IL6	C0270824	Visual seizure	1	CTD_human
IL6	C0270846	Epileptic drop attack	1	CTD_human
IL6	C0273115	Lung Injury	1	CTD_human
IL6	C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	1	CTD_human
IL6	C0282126	Depression, Neurotic	1	CTD_human
IL6	C0282313	Condition, Preneoplastic	1	CTD_human
IL6	C0338715	Drug-induced depressive state	1	PSYGENET
IL6	C0343755	HIV Wasting Syndrome	1	CTD_human
IL6	C0345905	Intrahepatic Cholangiocarcinoma	1	CTD_human
IL6	C0345967	Malignant mesothelioma	1	CTD_human
IL6	C0376358	Malignant neoplasm of prostate	5	CTD_human
IL6	C0494475	Tonic - clonic seizures	1	CTD_human
IL6	C0524620	Metabolic Syndrome X	1	CTD_human
IL6	C0549473	Thyroid carcinoma	1	CTD_human
IL6	C0554591	Polymyositis, Idiopathic	1	CTD_human
IL6	C0678202	Regional enteritis	2	CTD_human
IL6	C0678222	Breast Carcinoma	4	CTD_human
IL6	C0740376	Middle Cerebral Artery Thrombosis	3	CTD_human
IL6	C0740391	Middle Cerebral Artery Occlusion	3	CTD_human
IL6	C0740392	Infarction, Middle Cerebral Artery	3	CTD_human
IL6	C0751110	Single Seizure	1	CTD_human
IL6	C0751406	Post-Traumatic Osteoporosis	1	CTD_human
IL6	C0751956	Acute Cerebrovascular Accidents	1	CTD_human
IL6	C0869523	Carditis	1	CTD_human
IL6	C0887898	Experimental Lung Inflammation	1	CTD_human
IL6	C0917798	Cerebral Ischemia	2	CTD_human
IL6	C0919267	ovarian neoplasm	1	CTD_human
IL6	C0948089	Acute Coronary Syndrome	1	CTD_human
IL6	C0949272	IIeocolitis	2	CTD_human
IL6	C0949496	Luft Disease	1	CTD_human
IL6	C0971858	Arthritis, Collagen-Induced	3	CTD_human
IL6	C0993582	Arthritis, Experimental	3	CTD_human
IL6	C1140680	Malignant neoplasm of ovary	1	CTD_human
IL6	C1257931	Mammary Neoplasms, Human	4	CTD_human
IL6	C1262760	Hepatitis, Drug-Induced	2	CTD_human
IL6	C1266042	Chromophobe Renal Cell Carcinoma	1	CTD_human
IL6	C1266043	Sarcomatoid Renal Cell Carcinoma	1	CTD_human
IL6	C1266044	Collecting Duct Carcinoma of the Kidney	1	CTD_human
IL6	C1269683	Major Depressive Disorder	5	PSYGENET
IL6	C1298681	Oxalosis	1	CTD_human
IL6	C1306837	Papillary Renal Cell Carcinoma	1	CTD_human
IL6	C1368275	Pigmented Basal Cell Carcinoma	1	CTD_human
IL6	C1527303	Chronic Airflow Obstruction	1	CTD_human
IL6	C1527352	Hepatic Form of Wilson Disease	1	CTD_human
IL6	C1565662	Acute Kidney Insufficiency	1	CTD_human
IL6	C1704377	Bright Disease	1	CTD_human
IL6	C1708349	Hereditary Diffuse Gastric Cancer	1	CTD_human
IL6	C1959583	Myocardial Failure	2	CTD_human
IL6	C2239176	Liver carcinoma	4	CTD_human
IL6	C2350344	Chronic Lung Injury	1	CTD_human
IL6	C2350873	Beryllium Disease	1	CTD_human
IL6	C2609414	Acute kidney injury	1	CTD_human
IL6	C3658290	Drug-Induced Acute Liver Injury	2	CTD_human
IL6	C3714636	Pneumonitis	1	CTD_human
IL6	C3805278	Extrahepatic Cholangiocarcinoma	1	CTD_human
IL6	C4277682	Chemical and Drug Induced Liver Injury	2	CTD_human
IL6	C4279912	Chemically-Induced Liver Toxicity	2	CTD_human
IL6	C4316791	Entamoeba histolytica Infection	1	CTD_human
IL6	C4552766	Miscarriage	1	CTD_human
IL6	C4704874	Mammary Carcinoma, Human	4	CTD_human
IL6	C4721507	Alveolitis, Fibrosing	2	CTD_human
IL6	C4721806	Carcinoma, Basal Cell	1	CTD_human
EIF3E	C0152013	Adenocarcinoma of lung (disorder)	1	CTD_human
ITGA2	C0014175	Endometriosis	1	CTD_human
ITGA2	C0035328	Retinal Vein Occlusion	1	CTD_human
ITGA2	C0269102	Endometrioma	1	CTD_human
ITGA2	C1527411	Thrombosis of retinal vein	1	CTD_human
ITGA2	C3280114	Glycoprotein IA Deficiency	1	CTD_human;GENOMICS_ENGLAND
EIF6	C0006142	Malignant neoplasm of breast	1	CTD_human
EIF6	C0678222	Breast Carcinoma	1	CTD_human
EIF6	C1257931	Mammary Neoplasms, Human	1	CTD_human
EIF6	C4505456	HIV Coinfection	1	CTD_human
EIF6	C4704874	Mammary Carcinoma, Human	1	CTD_human
KARS1	C0557874	Global developmental delay	2	GENOMICS_ENGLAND
KARS1	C3150897	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B	6	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
KARS1	C3151351	DEAFNESS, AUTOSOMAL RECESSIVE 89	7	CTD_human;GENOMICS_ENGLAND;UNIPROT
KARS1	C3711374	Nonsyndromic Deafness	3	CLINGEN
KRT17	C0007114	Malignant neoplasm of skin	1	CTD_human
KRT17	C0259771	Steatocystoma multiplex	6	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
KRT17	C0263454	Chloracne	1	CTD_human
KRT17	C0279626	Squamous cell carcinoma of esophagus	1	CTD_human
KRT17	C1368275	Pigmented Basal Cell Carcinoma	1	CTD_human
KRT17	C1721007	Pachyonychia Congenita, Type 2 (disorder)	21	CTD_human;GENOMICS_ENGLAND;UNIPROT
KRT17	C3671377	Sebocystomatosis	1	ORPHANET
KRT17	C4721806	Carcinoma, Basal Cell	1	CTD_human
RPSA	C0152013	Adenocarcinoma of lung (disorder)	1	CTD_human
RPSA	C0685889	Splenic Hypoplasia	1	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
MARS1	C4084821	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U	2	CTD_human;ORPHANET;UNIPROT
MARS1	C4225400	INTERSTITIAL LUNG AND LIVER DISEASE	2	CTD_human;ORPHANET;UNIPROT
MARS1	C4749431	Autosomal recessive spastic paraplegia type 70	1	ORPHANET
NCL	C0151744	Myocardial Ischemia	1	CTD_human
NCL	C0152013	Adenocarcinoma of lung (disorder)	1	CTD_human
RPL10A	C0152013	Adenocarcinoma of lung (disorder)	1	CTD_human
NPM1	C0023467	Leukemia, Myelocytic, Acute	5	CGI;CTD_human
NPM1	C0023487	Acute Promyelocytic Leukemia	2	CGI;CTD_human;ORPHANET
NPM1	C0024623	Malignant neoplasm of stomach	1	CTD_human
NPM1	C0026998	Acute Myeloid Leukemia, M1	6	CTD_human;ORPHANET
NPM1	C0152013	Adenocarcinoma of lung (disorder)	1	CTD_human
NPM1	C0206182	Lymphomatoid Papulosis	1	ORPHANET
NPM1	C0265965	Dyskeratosis Congenita	1	CTD_human;GENOMICS_ENGLAND
NPM1	C1148551	X-Linked Dyskeratosis Congenita	1	CTD_human
NPM1	C1301362	Primary Cutaneous Anaplastic Large Cell Lymphoma	1	ORPHANET
NPM1	C1708349	Hereditary Diffuse Gastric Cancer	1	CTD_human
NPM1	C1879321	Acute Myeloid Leukemia (AML-M2)	6	CTD_human;ORPHANET
NPM1	C2930974	Acute erythroleukemia	1	CTD_human
NPM1	C2930975	Acute erythroleukemia - M6a subtype	1	CTD_human
NPM1	C2930976	Acute myeloid leukemia FAB-M6	1	CTD_human
NPM1	C2930977	Acute erythroleukemia - M6b subtype	1	CTD_human
YBX1	C0006142	Malignant neoplasm of breast	1	CTD_human
YBX1	C0007102	Malignant tumor of colon	1	CTD_human
YBX1	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
YBX1	C0678222	Breast Carcinoma	1	CTD_human
YBX1	C1257931	Mammary Neoplasms, Human	1	CTD_human
YBX1	C4704874	Mammary Carcinoma, Human	1	CTD_human
PA2G4	C0024623	Malignant neoplasm of stomach	1	CTD_human
PA2G4	C1708349	Hereditary Diffuse Gastric Cancer	1	CTD_human
PER1	C0004352	Autistic Disorder	1	CTD_human
PER1	C0023473	Myeloid Leukemia, Chronic	1	CTD_human
PER1	C0038587	Substance Withdrawal Syndrome	1	CTD_human
PER1	C0087031	Juvenile-Onset Still Disease	1	CTD_human
PER1	C3495559	Juvenile arthritis	1	CTD_human
PER1	C3714758	Juvenile psoriatic arthritis	1	CTD_human
PER1	C4552091	Polyarthritis, Juvenile, Rheumatoid Factor Negative	1	CTD_human
PER1	C4704862	Polyarthritis, Juvenile, Rheumatoid Factor Positive	1	CTD_human
PKM	C0001787	Osteoporosis, Age-Related	1	CTD_human
PKM	C0029456	Osteoporosis	1	CTD_human
PKM	C0029459	Osteoporosis, Senile	1	CTD_human
PKM	C0205696	Anaplastic carcinoma	1	CTD_human
PKM	C0205697	Carcinoma, Spindle-Cell	1	CTD_human
PKM	C0205698	Undifferentiated carcinoma	1	CTD_human
PKM	C0751406	Post-Traumatic Osteoporosis	1	CTD_human
PKM	C1257925	Mammary Carcinoma, Animal	1	CTD_human
PKM	C2239176	Liver carcinoma	1	CTD_human
PLD1	C0740376	Middle Cerebral Artery Thrombosis	1	CTD_human
PLD1	C0740391	Middle Cerebral Artery Occlusion	1	CTD_human
PLD1	C0740392	Infarction, Middle Cerebral Artery	1	CTD_human
PLD1	C1859330	Cardiac Valvular Defect, Developmental	1	GENOMICS_ENGLAND;UNIPROT
EXOSC9	C1843504	Pontocerebellar Hypoplasia Type 1	1	ORPHANET
EXOSC9	C4748058	PONTOCEREBELLAR HYPOPLASIA, TYPE 1D	1	GENOMICS_ENGLAND;UNIPROT
POLR2G	C0019193	Hepatitis, Toxic	1	CTD_human
POLR2G	C1262760	Hepatitis, Drug-Induced	1	CTD_human
POLR2G	C3658290	Drug-Induced Acute Liver Injury	1	CTD_human
POLR2G	C4277682	Chemical and Drug Induced Liver Injury	1	CTD_human
POLR2G	C4279912	Chemically-Induced Liver Toxicity	1	CTD_human
PRKDC	C0007137	Squamous cell carcinoma	1	CTD_human
PRKDC	C0010606	Adenoid Cystic Carcinoma	1	CTD_human
PRKDC	C0019147	Hepatic Coma	1	CTD_human
PRKDC	C0019151	Hepatic Encephalopathy	1	CTD_human
PRKDC	C0019193	Hepatitis, Toxic	1	CTD_human
PRKDC	C0085110	Severe Combined Immunodeficiency	1	GENOMICS_ENGLAND
PRKDC	C0376358	Malignant neoplasm of prostate	2	CTD_human
PRKDC	C0494261	Combined immunodeficiency	1	GENOMICS_ENGLAND
PRKDC	C0751197	Fulminant Hepatic Failure with Cerebral Edema	1	CTD_human
PRKDC	C0751198	Hepatic Stupor	1	CTD_human
PRKDC	C1262760	Hepatitis, Drug-Induced	1	CTD_human
PRKDC	C3658290	Drug-Induced Acute Liver Injury	1	CTD_human
PRKDC	C4014833	IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES	3	CTD_human;ORPHANET;UNIPROT
PRKDC	C4277682	Chemical and Drug Induced Liver Injury	1	CTD_human
PRKDC	C4279912	Chemically-Induced Liver Toxicity	1	CTD_human
EIF2AK2	C0021400	Influenza	1	CTD_human
EIF2AK2	C0038220	Status Epilepticus	1	CTD_human
EIF2AK2	C0270823	Petit mal status	1	CTD_human
EIF2AK2	C0311335	Grand Mal Status Epilepticus	1	CTD_human
EIF2AK2	C0376358	Malignant neoplasm of prostate	1	CTD_human
EIF2AK2	C0393734	Complex Partial Status Epilepticus	1	CTD_human
EIF2AK2	C0751522	Status Epilepticus, Subclinical	1	CTD_human
EIF2AK2	C0751523	Non-Convulsive Status Epilepticus	1	CTD_human
DNAJC3	C0376358	Malignant neoplasm of prostate	1	CTD_human
DNAJC3	C4015436	ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS	1	CTD_human;GENOMICS_ENGLAND;ORPHANET
PTAFR	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
PTAFR	C0032460	Polycystic Ovary Syndrome	1	CTD_human
PTAFR	C1136382	Sclerocystic Ovaries	1	CTD_human
PURA	C0014544	Epilepsy	1	CTD_human
PURA	C0086237	Epilepsy, Cryptogenic	1	CTD_human
PURA	C0751111	Awakening Epilepsy	1	CTD_human
PURA	C4015357	MENTAL RETARDATION, AUTOSOMAL DOMINANT 31	2	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
QARS1	C4014239	MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY	2	CTD_human;ORPHANET;UNIPROT
RARA	C0006142	Malignant neoplasm of breast	1	CTD_human
RARA	C0009363	Congenital ocular coloboma (disorder)	1	GENOMICS_ENGLAND
RARA	C0010701	Phyllodes Tumor	1	CTD_human
RARA	C0023487	Acute Promyelocytic Leukemia	24	CTD_human;ORPHANET
RARA	C0036341	Schizophrenia	3	PSYGENET
RARA	C0149940	Sciatic Neuropathy	1	CTD_human
RARA	C0154748	Lesion of Sciatic Nerve	1	CTD_human
RARA	C0206650	Fibroadenoma	1	CTD_human
RARA	C0242013	Sciatic Neuritis	1	CTD_human
RARA	C0600066	Malignant Cystosarcoma Phyllodes	1	CTD_human
RARA	C0678222	Breast Carcinoma	1	CTD_human
RARA	C0751924	Neuralgia-Neuritis, Sciatic Nerve	1	CTD_human
RARA	C0751925	Sciatic Nerve Palsy	1	CTD_human
RARA	C0877578	Treatment related secondary malignancy	1	CTD_human
RARA	C1257931	Mammary Neoplasms, Human	1	CTD_human
RARA	C2239176	Liver carcinoma	1	CTD_human
RARA	C4704874	Mammary Carcinoma, Human	1	CTD_human
RARS1	C0028738	Nystagmus	1	GENOMICS_ENGLAND
RARS1	C0235946	Cerebral atrophy	1	GENOMICS_ENGLAND
RARS1	C0557874	Global developmental delay	1	GENOMICS_ENGLAND
RARS1	C4015323	LEUKODYSTROPHY, HYPOMYELINATING, 9	2	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
RBM3	C0006142	Malignant neoplasm of breast	1	CTD_human
RBM3	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
RBM3	C0678222	Breast Carcinoma	1	CTD_human
RBM3	C1257931	Mammary Neoplasms, Human	1	CTD_human
RBM3	C4704874	Mammary Carcinoma, Human	1	CTD_human
RGS2	C0006142	Malignant neoplasm of breast	1	CTD_human
RGS2	C0023467	Leukemia, Myelocytic, Acute	1	CTD_human
RGS2	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
RGS2	C0024623	Malignant neoplasm of stomach	1	CTD_human
RGS2	C0026998	Acute Myeloid Leukemia, M1	1	CTD_human
RGS2	C0030569	Secondary Parkinson Disease	1	CTD_human
RGS2	C0036341	Schizophrenia	2	PSYGENET
RGS2	C0678222	Breast Carcinoma	1	CTD_human
RGS2	C0751414	Parkinson Disease, Secondary Vascular	1	CTD_human
RGS2	C0751415	Atherosclerotic Parkinsonism	1	CTD_human
RGS2	C1257931	Mammary Neoplasms, Human	1	CTD_human
RGS2	C1708349	Hereditary Diffuse Gastric Cancer	1	CTD_human
RGS2	C1879321	Acute Myeloid Leukemia (AML-M2)	1	CTD_human
RGS2	C4704874	Mammary Carcinoma, Human	1	CTD_human
ABCE1	C0009402	Colorectal Carcinoma	1	CTD_human
RPL3	C0205696	Anaplastic carcinoma	1	CTD_human
RPL3	C0205697	Carcinoma, Spindle-Cell	1	CTD_human
RPL3	C0205698	Undifferentiated carcinoma	1	CTD_human
RPL3	C1257925	Mammary Carcinoma, Animal	1	CTD_human
RPL3L	C0004238	Atrial Fibrillation	1	CTD_human
RPL3L	C0235480	Paroxysmal atrial fibrillation	1	CTD_human
RPL5	C0008925	Cleft Palate	1	GENOMICS_ENGLAND
RPL5	C0010093	Corpus Luteum Cyst	1	CTD_human
RPL5	C0029927	Ovarian Cysts	1	CTD_human
RPL5	C1260899	Anemia, Diamond-Blackfan	3	GENOMICS_ENGLAND
RPL5	C1961099	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	1	CGI;CTD_human
RPL5	C2931850	Aase Smith syndrome 2	2	CTD_human;GENOMICS_ENGLAND;UNIPROT
RPL6	C0030567	Parkinson Disease	1	CTD_human
RPL6	C0205696	Anaplastic carcinoma	1	CTD_human
RPL6	C0205697	Carcinoma, Spindle-Cell	1	CTD_human
RPL6	C0205698	Undifferentiated carcinoma	1	CTD_human
RPL6	C1257925	Mammary Carcinoma, Animal	1	CTD_human
RPL9	C1260899	Anemia, Diamond-Blackfan	2	GENOMICS_ENGLAND
RPL10	C0004352	Autistic Disorder	1	CTD_human
RPL10	C0376358	Malignant neoplasm of prostate	1	CTD_human
RPL10	C0796250	PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME	6	CLINGEN
RPL10	C1961099	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	1	CGI;CTD_human
RPL10	C3275438	AUTISM, SUSCEPTIBILITY TO, X-LINKED 5	3	UNIPROT
RPL10	C4478383	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35	3	GENOMICS_ENGLAND;UNIPROT
RPL11	C0376358	Malignant neoplasm of prostate	1	CTD_human
RPL11	C0431890	Hypoplasia of thumb	2	GENOMICS_ENGLAND
RPL11	C1260899	Anemia, Diamond-Blackfan	4	GENOMICS_ENGLAND
RPL11	C2675512	Diamond-Blackfan Anemia 7	3	CTD_human;GENOMICS_ENGLAND;UNIPROT
RPL12	C0376358	Malignant neoplasm of prostate	1	CTD_human
RPL13	C0024623	Malignant neoplasm of stomach	1	CTD_human
RPL13	C1260899	Anemia, Diamond-Blackfan	1	GENOMICS_ENGLAND
RPL13	C1708349	Hereditary Diffuse Gastric Cancer	1	CTD_human
RPL15	C0024623	Malignant neoplasm of stomach	1	CTD_human
RPL15	C0241397	Triphalangeal thumb	1	GENOMICS_ENGLAND
RPL15	C1260899	Anemia, Diamond-Blackfan	2	GENOMICS_ENGLAND;ORPHANET
RPL15	C1708349	Hereditary Diffuse Gastric Cancer	1	CTD_human
RPL15	C2931850	Aase Smith syndrome 2	1	ORPHANET
RPL15	C3809888	DIAMOND-BLACKFAN ANEMIA 12	2	CTD_human;GENOMICS_ENGLAND
RPL17	C0151744	Myocardial Ischemia	1	CTD_human
RPL18	C0024623	Malignant neoplasm of stomach	1	CTD_human
RPL18	C1260899	Anemia, Diamond-Blackfan	1	GENOMICS_ENGLAND;ORPHANET
RPL18	C1708349	Hereditary Diffuse Gastric Cancer	1	CTD_human
RPL18	C2931850	Aase Smith syndrome 2	1	ORPHANET
RPL19	C1260899	Anemia, Diamond-Blackfan	1	GENOMICS_ENGLAND
RPL21	C1854310	Hypotrichosis simplex	1	ORPHANET
RPL21	C4014563	HYPOTRICHOSIS 12	1	GENOMICS_ENGLAND;UNIPROT
RPL23A	C0006142	Malignant neoplasm of breast	1	CTD_human
RPL23A	C0030567	Parkinson Disease	1	CTD_human
RPL23A	C0678222	Breast Carcinoma	1	CTD_human
RPL23A	C1257931	Mammary Neoplasms, Human	1	CTD_human
RPL23A	C4704874	Mammary Carcinoma, Human	1	CTD_human
RPL24	C3179349	Gastrointestinal Stromal Sarcoma	1	CTD_human
RPL26	C1260899	Anemia, Diamond-Blackfan	2	GENOMICS_ENGLAND;ORPHANET
RPL26	C2931850	Aase Smith syndrome 2	1	ORPHANET
RPL26	C3554042	DIAMOND-BLACKFAN ANEMIA 11	1	CTD_human;GENOMICS_ENGLAND
RPL27	C1260899	Anemia, Diamond-Blackfan	2	GENOMICS_ENGLAND;ORPHANET
RPL27	C2931850	Aase Smith syndrome 2	1	ORPHANET
RPL27	C4479424	DIAMOND-BLACKFAN ANEMIA 16	1	CTD_human;GENOMICS_ENGLAND
RPL27A	C0030312	Pancytopenia	1	CTD_human
RPL27A	C0152013	Adenocarcinoma of lung (disorder)	1	CTD_human
RPL31	C0006142	Malignant neoplasm of breast	1	CTD_human
RPL31	C0678222	Breast Carcinoma	1	CTD_human
RPL31	C1257931	Mammary Neoplasms, Human	1	CTD_human
RPL31	C1260899	Anemia, Diamond-Blackfan	2	GENOMICS_ENGLAND
RPL31	C4704874	Mammary Carcinoma, Human	1	CTD_human
RPL35A	C1260899	Anemia, Diamond-Blackfan	2	GENOMICS_ENGLAND
RPL35A	C2675859	Diamond-Blackfan Anemia 5	1	CTD_human;GENOMICS_ENGLAND;UNIPROT
RPL37A	C0032460	Polycystic Ovary Syndrome	1	CTD_human
RPL37A	C1136382	Sclerocystic Ovaries	1	CTD_human
RPL36A	C0152013	Adenocarcinoma of lung (disorder)	1	CTD_human
RPLP2	C0006142	Malignant neoplasm of breast	1	CTD_human
RPLP2	C0678222	Breast Carcinoma	1	CTD_human
RPLP2	C1257931	Mammary Neoplasms, Human	1	CTD_human
RPLP2	C4704874	Mammary Carcinoma, Human	1	CTD_human
RPS2	C0004238	Atrial Fibrillation	1	CTD_human
RPS2	C0235480	Paroxysmal atrial fibrillation	1	CTD_human
RPS3	C0025202	melanoma	1	CTD_human
RPS4X	C0006142	Malignant neoplasm of breast	1	CTD_human
RPS4X	C0678222	Breast Carcinoma	1	CTD_human
RPS4X	C1257931	Mammary Neoplasms, Human	1	CTD_human
RPS4X	C4704874	Mammary Carcinoma, Human	1	CTD_human
RPS6	C0006142	Malignant neoplasm of breast	1	CTD_human
RPS6	C0024623	Malignant neoplasm of stomach	1	CTD_human
RPS6	C0678222	Breast Carcinoma	1	CTD_human
RPS6	C1257931	Mammary Neoplasms, Human	1	CTD_human
RPS6	C1708349	Hereditary Diffuse Gastric Cancer	1	CTD_human
RPS6	C2239176	Liver carcinoma	1	CTD_human
RPS6	C4704874	Mammary Carcinoma, Human	1	CTD_human
RPS6KA1	C0015923	Fetal Alcohol Syndrome	1	CTD_human
RPS6KA1	C0036920	Sezary Syndrome	1	CTD_human
RPS6KA1	C0814154	Alcohol Related Neurodevelopmental Disorder	1	CTD_human
RPS6KA1	C3146244	Alcohol Related Birth Defect	1	CTD_human
RPS6KA1	C3661483	Partial Fetal Alcohol Syndrome	1	CTD_human
RPS6KA3	C0265252	Coffin-Lowry syndrome	15	CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
RPS6KA3	C0796225	Mental Retardation, X-Linked 19	2	CTD_human;GENOMICS_ENGLAND;UNIPROT
RPS6KA3	C2239176	Liver carcinoma	1	CTD_human
RPS6KA3	C2931498	Mental Retardation, X-Linked 1	1	ORPHANET
RPS6KB1	C0079744	Diffuse Large B-Cell Lymphoma	1	CTD_human
RPS6KB1	C0149721	Left Ventricular Hypertrophy	1	CTD_human
RPS6KB1	C2931673	Ceroid lipofuscinosis, neuronal 1, infantile	1	CTD_human
RPS6KB2	C0006142	Malignant neoplasm of breast	1	CTD_human
RPS6KB2	C0678222	Breast Carcinoma	1	CTD_human
RPS6KB2	C1257931	Mammary Neoplasms, Human	1	CTD_human
RPS6KB2	C4704874	Mammary Carcinoma, Human	1	CTD_human
RPS7	C0006142	Malignant neoplasm of breast	1	CTD_human
RPS7	C0678222	Breast Carcinoma	1	CTD_human
RPS7	C1257931	Mammary Neoplasms, Human	1	CTD_human
RPS7	C1260899	Anemia, Diamond-Blackfan	3	GENOMICS_ENGLAND
RPS7	C2675511	Diamond-Blackfan Anemia 8	2	CTD_human;GENOMICS_ENGLAND
RPS7	C4704874	Mammary Carcinoma, Human	1	CTD_human
RPS8	C0006142	Malignant neoplasm of breast	1	CTD_human
RPS8	C0030567	Parkinson Disease	1	CTD_human
RPS8	C0678222	Breast Carcinoma	1	CTD_human
RPS8	C1257931	Mammary Neoplasms, Human	1	CTD_human
RPS8	C4704874	Mammary Carcinoma, Human	1	CTD_human
RPS10	C1260899	Anemia, Diamond-Blackfan	4	GENOMICS_ENGLAND
RPS10	C2750081	Diamond-Blackfan Anemia 9	6	CLINGEN;CTD_human;GENOMICS_ENGLAND
RPS10	C2931850	Aase Smith syndrome 2	1	GENOMICS_ENGLAND
RPS14	C0027947	Neutropenia	1	CTD_human
RPS14	C0205696	Anaplastic carcinoma	1	CTD_human
RPS14	C0205697	Carcinoma, Spindle-Cell	1	CTD_human
RPS14	C0205698	Undifferentiated carcinoma	1	CTD_human
RPS14	C0740302	5q-syndrome	1	CTD_human;GENOMICS_ENGLAND;ORPHANET
RPS14	C1257925	Mammary Carcinoma, Animal	1	CTD_human
RPS14	C1292779	Myelodysplastic Syndrome with Isolated del(5q)	1	ORPHANET
RPS15	C0023434	Chronic Lymphocytic Leukemia	2	ORPHANET
RPS15	C0024623	Malignant neoplasm of stomach	1	CTD_human
RPS15	C0855095	Small Lymphocytic Lymphoma	2	ORPHANET
RPS15	C1260899	Anemia, Diamond-Blackfan	1	GENOMICS_ENGLAND
RPS15	C1708349	Hereditary Diffuse Gastric Cancer	1	CTD_human
RPS15	C1868683	B-CELL MALIGNANCY, LOW-GRADE	2	ORPHANET
RPS15A	C1260899	Anemia, Diamond-Blackfan	1	ORPHANET
RPS15A	C2931850	Aase Smith syndrome 2	1	ORPHANET
RPS17	C1260899	Anemia, Diamond-Blackfan	2	CTD_human;GENOMICS_ENGLAND
RPS17	C2675860	Diamond-Blackfan Anemia 4	3	CTD_human;GENOMICS_ENGLAND
RPS19	C0024623	Malignant neoplasm of stomach	1	CTD_human
RPS19	C0241397	Triphalangeal thumb	2	GENOMICS_ENGLAND
RPS19	C0376358	Malignant neoplasm of prostate	1	CTD_human
RPS19	C0431890	Hypoplasia of thumb	2	GENOMICS_ENGLAND
RPS19	C1260899	Anemia, Diamond-Blackfan	3	CTD_human;GENOMICS_ENGLAND
RPS19	C1708349	Hereditary Diffuse Gastric Cancer	1	CTD_human
RPS19	C2676137	Diamond-Blackfan Anemia 1	9	GENOMICS_ENGLAND;UNIPROT
RPS19	C3278811	Thumb aplasia	2	GENOMICS_ENGLAND
RPS20	C1112155	Hereditary non-polyposis colorectal cancer syndrome	2	CLINGEN
RPS20	C1333990	Hereditary Nonpolyposis Colorectal Cancer	2	CLINGEN
RPS20	C1333991	Hereditary Non-Polyposis Colon Cancer Type 2	2	CLINGEN
RPS20	C2936783	Colorectal cancer, hereditary nonpolyposis, type 1	2	CLINGEN
RPS20	C3896578	Familial Colorectal Cancer Type X	1	ORPHANET
RPS21	C0024623	Malignant neoplasm of stomach	1	CTD_human
RPS21	C1708349	Hereditary Diffuse Gastric Cancer	1	CTD_human
RPS23	C4479431	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY	1	CTD_human;GENOMICS_ENGLAND;UNIPROT
RPS24	C0265265	Aase syndrome	6	CLINGEN
RPS24	C1260899	Anemia, Diamond-Blackfan	8	CLINGEN;GENOMICS_ENGLAND
RPS24	C1857719	Anemia, Diamond-Blackfan, 3	5	CTD_human;GENOMICS_ENGLAND
RPS24	C2931850	Aase Smith syndrome 2	1	GENOMICS_ENGLAND
RPS26	C0008925	Cleft Palate	1	GENOMICS_ENGLAND
RPS26	C0024623	Malignant neoplasm of stomach	1	CTD_human
RPS26	C1260899	Anemia, Diamond-Blackfan	4	GENOMICS_ENGLAND
RPS26	C1708349	Hereditary Diffuse Gastric Cancer	1	CTD_human
RPS26	C2750080	Diamond-Blackfan Anemia 10	4	CTD_human;GENOMICS_ENGLAND;UNIPROT
RPS27	C1260899	Anemia, Diamond-Blackfan	2	GENOMICS_ENGLAND;ORPHANET
RPS27	C2931850	Aase Smith syndrome 2	1	ORPHANET
RPS27	C4479428	DIAMOND-BLACKFAN ANEMIA 17	1	CTD_human;GENOMICS_ENGLAND
RPS27A	C1260899	Anemia, Diamond-Blackfan	1	GENOMICS_ENGLAND
RPS28	C1260899	Anemia, Diamond-Blackfan	2	GENOMICS_ENGLAND;ORPHANET
RPS28	C2931850	Aase Smith syndrome 2	1	ORPHANET
RPS28	C4225411	DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS	1	CTD_human;GENOMICS_ENGLAND
RPS29	C1260899	Anemia, Diamond-Blackfan	2	GENOMICS_ENGLAND;ORPHANET
RPS29	C2931850	Aase Smith syndrome 2	1	ORPHANET
RPS29	C4014641	DIAMOND-BLACKFAN ANEMIA 13	1	CTD_human;GENOMICS_ENGLAND;UNIPROT
SARS1	C4540188	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES	1	UNIPROT
ATXN2	C0002736	Amyotrophic Lateral Sclerosis	2	CTD_human;ORPHANET
ATXN2	C0017612	Glaucoma, Open-Angle	1	CTD_human
ATXN2	C0036341	Schizophrenia	1	PSYGENET
ATXN2	C0087012	Ataxia, Spinocerebellar	2	CTD_human
ATXN2	C0271148	Secondary Open Angle Glaucoma	1	CTD_human
ATXN2	C0339573	Glaucoma, Primary Open Angle	1	CTD_human
ATXN2	C0393554	Amyotrophic Lateral Sclerosis With Dementia	1	CTD_human
ATXN2	C0543859	Amyotrophic Lateral Sclerosis, Guam Form	1	CTD_human
ATXN2	C0752120	Spinocerebellar Ataxia Type 1	2	CTD_human
ATXN2	C0752121	Spinocerebellar Ataxia Type 2	3	CTD_human;GENOMICS_ENGLAND;ORPHANET
ATXN2	C0752122	Spinocerebellar Ataxia Type 4	2	CTD_human
ATXN2	C0752123	Spinocerebellar Ataxia Type 5	2	CTD_human
ATXN2	C0752124	Spinocerebellar Ataxia Type 6 (disorder)	2	CTD_human
ATXN2	C0752125	Spinocerebellar Ataxia Type 7	2	CTD_human
CCL5	C0004096	Asthma	1	CTD_human
CCL5	C0008312	Primary biliary cirrhosis	1	CTD_human
CCL5	C0011615	Dermatitis, Atopic	1	CTD_human
CCL5	C0017658	Glomerulonephritis	1	CTD_human
CCL5	C0019187	Hepatitis, Alcoholic	1	CTD_human
CCL5	C0020500	Hyperoxaluria	1	CTD_human
CCL5	C0023892	Biliary cirrhosis	1	CTD_human
CCL5	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
CCL5	C0034069	Pulmonary Fibrosis	1	CTD_human
CCL5	C0086196	Eczema, Infantile	1	CTD_human
CCL5	C0238065	Secondary Biliary Cholangitis	1	CTD_human
CCL5	C0241910	Autoimmune Chronic Hepatitis	1	CTD_human
CCL5	C0345967	Malignant mesothelioma	1	CTD_human
CCL5	C0524610	Chronic Alcoholic Hepatitis	1	CTD_human
CCL5	C1298681	Oxalosis	1	CTD_human
CCL5	C1704377	Bright Disease	1	CTD_human
CCL5	C4551595	Biliary Cirrhosis, Primary, 1	1	CTD_human
CCL5	C4721507	Alveolitis, Fibrosing	1	CTD_human
SHMT1	C0006142	Malignant neoplasm of breast	1	CTD_human
SHMT1	C0024302	Reticulosarcoma	1	CTD_human
SHMT1	C0024304	Lymphoma, Mixed-Cell	1	CTD_human
SHMT1	C0024305	Lymphoma, Non-Hodgkin	1	CTD_human
SHMT1	C0024306	Lymphoma, Undifferentiated	1	CTD_human
SHMT1	C0036341	Schizophrenia	1	PSYGENET
SHMT1	C0079740	High Grade Lymphoma (neoplasm)	1	CTD_human
SHMT1	C0079741	Lymphoma, Intermediate-Grade	1	CTD_human
SHMT1	C0079747	Low Grade Lymphoma (neoplasm)	1	CTD_human
SHMT1	C0079757	Diffuse Mixed-Cell Lymphoma	1	CTD_human
SHMT1	C0079770	Lymphoma, Small Noncleaved-Cell	1	CTD_human
SHMT1	C0152013	Adenocarcinoma of lung (disorder)	1	CTD_human
SHMT1	C0678222	Breast Carcinoma	1	CTD_human
SHMT1	C1257931	Mammary Neoplasms, Human	1	CTD_human
SHMT1	C3714542	Lymphoma, Diffuse	1	CTD_human
SHMT1	C4704874	Mammary Carcinoma, Human	1	CTD_human
SHMT1	C4721532	Lymphoma, Non-Hodgkin, Familial	1	CTD_human
SHMT2	C0007131	Non-Small Cell Lung Carcinoma	1	CTD_human
SOX4	C0010606	Adenoid Cystic Carcinoma	1	CTD_human
SOX4	C0018801	Heart failure	1	CTD_human
SOX4	C0018802	Congestive heart failure	1	CTD_human
SOX4	C0019207	Hepatoma, Morris	1	CTD_human
SOX4	C0019208	Hepatoma, Novikoff	1	CTD_human
SOX4	C0023212	Left-Sided Heart Failure	1	CTD_human
SOX4	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
SOX4	C0086404	Experimental Hepatoma	1	CTD_human
SOX4	C0220636	Malignant neoplasm of salivary gland	1	CTD_human
SOX4	C0235527	Heart Failure, Right-Sided	1	CTD_human
SOX4	C0265338	Coffin-Siris syndrome	1	ORPHANET
SOX4	C0557874	Global developmental delay	1	GENOMICS_ENGLAND
SOX4	C1850049	Clinodactyly of the 5th finger	1	GENOMICS_ENGLAND
SOX4	C1959583	Myocardial Failure	1	CTD_human
STAT3	C0003865	Arthritis, Adjuvant-Induced	2	CTD_human
STAT3	C0004153	Atherosclerosis	1	CTD_human
STAT3	C0006142	Malignant neoplasm of breast	1	CTD_human
STAT3	C0007102	Malignant tumor of colon	1	CTD_human
STAT3	C0007131	Non-Small Cell Lung Carcinoma	1	CTD_human
STAT3	C0007137	Squamous cell carcinoma	2	CTD_human
STAT3	C0007786	Brain Ischemia	1	CTD_human
STAT3	C0007873	Uterine Cervical Neoplasm	1	CTD_human
STAT3	C0009324	Ulcerative Colitis	2	CTD_human
STAT3	C0011581	Depressive disorder	1	PSYGENET
STAT3	C0011854	Diabetes Mellitus, Insulin-Dependent	1	CTD_human
STAT3	C0019189	Hepatitis, Chronic	1	CTD_human
STAT3	C0019207	Hepatoma, Morris	2	CTD_human
STAT3	C0019208	Hepatoma, Novikoff	2	CTD_human
STAT3	C0023467	Leukemia, Myelocytic, Acute	1	CTD_human
STAT3	C0023485	Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	1	CTD_human
STAT3	C0023487	Acute Promyelocytic Leukemia	1	ORPHANET
STAT3	C0023492	Leukemia, T-Cell	1	CTD_human
STAT3	C0023493	Adult T-Cell Lymphoma/Leukemia	1	CTD_human
STAT3	C0024232	Lymphatic Metastasis	1	CTD_human
STAT3	C0024623	Malignant neoplasm of stomach	1	CTD_human
STAT3	C0025149	Medulloblastoma	1	CTD_human
STAT3	C0025261	Memory Disorders	1	CTD_human
STAT3	C0026998	Acute Myeloid Leukemia, M1	1	CTD_human
STAT3	C0030246	Pustulosis of Palms and Soles	1	CTD_human
STAT3	C0030297	Pancreatic Neoplasm	2	CTD_human
STAT3	C0033860	Psoriasis	1	CTD_human
STAT3	C0034069	Pulmonary Fibrosis	1	CTD_human
STAT3	C0035126	Reperfusion Injury	1	CTD_human
STAT3	C0079772	T-Cell Lymphoma	1	CTD_human
STAT3	C0086404	Experimental Hepatoma	2	CTD_human
STAT3	C0087031	Juvenile-Onset Still Disease	1	CTD_human
STAT3	C0149519	Chronic Persistent Hepatitis	1	CTD_human
STAT3	C0158981	Neonatal diabetes mellitus	1	GENOMICS_ENGLAND
STAT3	C0205641	Adenocarcinoma, Basal Cell	2	CTD_human
STAT3	C0205642	Adenocarcinoma, Oxyphilic	2	CTD_human
STAT3	C0205643	Carcinoma, Cribriform	2	CTD_human
STAT3	C0205644	Carcinoma, Granular Cell	2	CTD_human
STAT3	C0205645	Adenocarcinoma, Tubular	2	CTD_human
STAT3	C0205696	Anaplastic carcinoma	1	CTD_human
STAT3	C0205697	Carcinoma, Spindle-Cell	1	CTD_human
STAT3	C0205698	Undifferentiated carcinoma	1	CTD_human
STAT3	C0205734	Diabetes, Autoimmune	1	CTD_human
STAT3	C0205833	Medullomyoblastoma	1	CTD_human
STAT3	C0206180	Ki-1+ Anaplastic Large Cell Lymphoma	1	CTD_human
STAT3	C0235833	Congenital diaphragmatic hernia	1	CTD_human
STAT3	C0265699	Congenital hernia of foramen of Morgagni	1	CTD_human
STAT3	C0265700	Congenital hernia of foramen of Bochdalek	1	CTD_human
STAT3	C0278510	Childhood Medulloblastoma	1	CTD_human
STAT3	C0278876	Adult Medulloblastoma	1	CTD_human
STAT3	C0282313	Condition, Preneoplastic	1	CTD_human
STAT3	C0342302	Brittle diabetes	1	CTD_human
STAT3	C0345904	Malignant neoplasm of liver	1	CTD_human
STAT3	C0346647	Malignant neoplasm of pancreas	2	CTD_human
STAT3	C0376358	Malignant neoplasm of prostate	3	CTD_human
STAT3	C0520463	Chronic active hepatitis	1	CTD_human
STAT3	C0524611	Cryptogenic Chronic Hepatitis	1	CTD_human
STAT3	C0678222	Breast Carcinoma	1	CTD_human
STAT3	C0740376	Middle Cerebral Artery Thrombosis	1	CTD_human
STAT3	C0740391	Middle Cerebral Artery Occlusion	1	CTD_human
STAT3	C0740392	Infarction, Middle Cerebral Artery	1	CTD_human
STAT3	C0751291	Desmoplastic Medulloblastoma	1	CTD_human
STAT3	C0917798	Cerebral Ischemia	1	CTD_human
STAT3	C0919267	ovarian neoplasm	1	CTD_human
STAT3	C0971858	Arthritis, Collagen-Induced	2	CTD_human
STAT3	C0993582	Arthritis, Experimental	2	CTD_human
STAT3	C1140680	Malignant neoplasm of ovary	1	CTD_human
STAT3	C1168401	Squamous cell carcinoma of the head and neck	1	CTD_human
STAT3	C1257925	Mammary Carcinoma, Animal	1	CTD_human
STAT3	C1257931	Mammary Neoplasms, Human	1	CTD_human
STAT3	C1275668	Melanotic medulloblastoma	1	CTD_human
STAT3	C1512709	Chronic Lymphoproliferative Disorder of NK-Cells	1	ORPHANET
STAT3	C1623038	Cirrhosis	1	CTD_human
STAT3	C1708349	Hereditary Diffuse Gastric Cancer	1	CTD_human
STAT3	C1800706	Idiopathic Pulmonary Fibrosis	1	CTD_human
STAT3	C1833104	DIABETES MELLITUS, PERMANENT NEONATAL	1	ORPHANET
STAT3	C1876165	Copper-Overload Cirrhosis	1	CTD_human
STAT3	C1879321	Acute Myeloid Leukemia (AML-M2)	1	CTD_human
STAT3	C1955861	T-Cell Large Granular Lymphocyte Leukemia	2	CGI;ORPHANET
STAT3	C1968689	Hyper-Immunoglobulin E Syndrome, Autosomal Recessive	1	CTD_human
STAT3	C2930809	Neutropenia and hyperlymphocytosis with large granular lymphocytes	2	ORPHANET
STAT3	C2936739	Hyper-Immunoglobulin E Syndrome, Autosomal Dominant	3	CTD_human;ORPHANET
STAT3	C3489795	Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant	2	CTD_human;ORPHANET
STAT3	C3495559	Juvenile arthritis	1	CTD_human
STAT3	C3714758	Juvenile psoriatic arthritis	1	CTD_human
STAT3	C3837958	Diabetes Mellitus, Ketosis-Prone	1	CTD_human
STAT3	C3887645	Job Syndrome	3	CTD_human;GENOMICS_ENGLAND;ORPHANET
STAT3	C4014795	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	3	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
STAT3	C4048328	cervical cancer	1	CTD_human
STAT3	C4552091	Polyarthritis, Juvenile, Rheumatoid Factor Negative	1	CTD_human
STAT3	C4554117	Diabetes Mellitus, Sudden-Onset	1	CTD_human
STAT3	C4704862	Polyarthritis, Juvenile, Rheumatoid Factor Positive	1	CTD_human
STAT3	C4704874	Mammary Carcinoma, Human	1	CTD_human
STAT3	C4721507	Alveolitis, Fibrosing	1	CTD_human
STAT3	C4721508	Hamman-Rich Disease	1	CTD_human
STAT3	C4721509	Usual Interstitial Pneumonia	1	CTD_human
STAT3	C4721531	HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT	7	GENOMICS_ENGLAND;UNIPROT
STAT3	C4721952	Familial Idiopathic Pulmonary Fibrosis	1	CTD_human
TARS1	C0027121	Myositis	1	CTD_human
TARS1	C0158353	Infectious Myositis	1	CTD_human
TARS1	C0544796	Myositis, Proliferative	1	CTD_human
TARS1	C0751356	Idiopathic Inflammatory Myopathies	1	CTD_human
TARS1	C0751357	Myositis, Focal	1	CTD_human
TCOF1	C0152423	Congenital small ears	1	GENOMICS_ENGLAND
TCOF1	C0242387	Mandibulofacial Dysostosis	5	CTD_human;GENOMICS_ENGLAND;UNIPROT
TCOF1	C0265241	Franceschetti-Klein syndrome	7	CLINGEN
THBS1	C0006142	Malignant neoplasm of breast	1	CTD_human
THBS1	C0011875	Diabetic Angiopathies	1	CTD_human
THBS1	C0011884	Diabetic Retinopathy	1	CTD_human
THBS1	C0023890	Liver Cirrhosis	1	CTD_human
THBS1	C0025945	Microangiopathy, Diabetic	1	CTD_human
THBS1	C0027707	Nephritis, Interstitial	1	CTD_human
THBS1	C0035126	Reperfusion Injury	1	CTD_human
THBS1	C0036341	Schizophrenia	1	CTD_human
THBS1	C0041349	Nephritis, Tubulointerstitial	1	CTD_human
THBS1	C0087031	Juvenile-Onset Still Disease	1	CTD_human
THBS1	C0239946	Fibrosis, Liver	1	CTD_human
THBS1	C0678222	Breast Carcinoma	1	CTD_human
THBS1	C1257931	Mammary Neoplasms, Human	1	CTD_human
THBS1	C1623038	Cirrhosis	1	CTD_human
THBS1	C3495559	Juvenile arthritis	1	CTD_human
THBS1	C3714758	Juvenile psoriatic arthritis	1	CTD_human
THBS1	C4552091	Polyarthritis, Juvenile, Rheumatoid Factor Negative	1	CTD_human
THBS1	C4704862	Polyarthritis, Juvenile, Rheumatoid Factor Positive	1	CTD_human
THBS1	C4704874	Mammary Carcinoma, Human	1	CTD_human
TIA1	C0221054	Welander Distal Myopathy	3	GENOMICS_ENGLAND;ORPHANET;UNIPROT
TIA1	C2931290	Welander distal myopathy, Swedish type	3	CTD_human;ORPHANET
TNF	C0002152	Alloxan Diabetes	6	CTD_human
TNF	C0002395	Alzheimer's Disease	1	CTD_human
TNF	C0002871	Anemia	1	CTD_human
TNF	C0002893	Refractory anemias	1	CTD_human
TNF	C0002895	Anemia, Sickle Cell	1	CTD_human
TNF	C0003123	Anorexia	1	CTD_human
TNF	C0003165	Anthracosis	1	CTD_human
TNF	C0003865	Arthritis, Adjuvant-Induced	9	CTD_human
TNF	C0003872	Arthritis, Psoriatic	2	CTD_human
TNF	C0003873	Rheumatoid Arthritis	4	CTD_human
TNF	C0003875	Arthritis, Viral	1	CTD_human
TNF	C0003949	Asbestosis	1	CTD_human
TNF	C0004096	Asthma	5	CTD_human
TNF	C0004153	Atherosclerosis	1	CTD_human
TNF	C0005138	Berylliosis	4	CTD_human
TNF	C0005398	Cholestasis, Extrahepatic	1	CTD_human
TNF	C0005586	Bipolar Disorder	5	PSYGENET
TNF	C0005684	Malignant neoplasm of urinary bladder	1	CTD_human
TNF	C0005695	Bladder Neoplasm	1	CTD_human
TNF	C0006142	Malignant neoplasm of breast	3	CTD_human
TNF	C0006267	Bronchiectasis	1	CTD_human
TNF	C0007102	Malignant tumor of colon	2	CTD_human
TNF	C0007138	Carcinoma, Transitional Cell	1	CTD_human
TNF	C0007786	Brain Ischemia	1	CTD_human
TNF	C0008370	Cholestasis	1	CTD_human
TNF	C0009319	Colitis	2	CTD_human
TNF	C0009324	Ulcerative Colitis	3	CTD_human
TNF	C0009402	Colorectal Carcinoma	1	CTD_human
TNF	C0010346	Crohn Disease	2	CTD_human
TNF	C0011265	Presenile dementia	1	CTD_human
TNF	C0011570	Mental Depression	5	PSYGENET
TNF	C0011581	Depressive disorder	5	PSYGENET
TNF	C0011633	Dermatomyositis	1	CTD_human
TNF	C0011644	Scleroderma	1	CTD_human
TNF	C0011853	Diabetes Mellitus, Experimental	6	CTD_human
TNF	C0011854	Diabetes Mellitus, Insulin-Dependent	1	CTD_human
TNF	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	1	CTD_human
TNF	C0015625	Fanconi Anemia	1	CTD_human
TNF	C0015695	Fatty Liver	1	CTD_human
TNF	C0017638	Glioma	1	CTD_human
TNF	C0017658	Glomerulonephritis	2	CTD_human
TNF	C0018790	Cardiac Arrest	1	CTD_human
TNF	C0018801	Heart failure	5	CTD_human
TNF	C0018802	Congestive heart failure	5	CTD_human
TNF	C0018995	Hemochromatosis	1	CTD_human
TNF	C0019061	Hemolytic-Uremic Syndrome	1	CTD_human
TNF	C0019147	Hepatic Coma	2	CTD_human
TNF	C0019151	Hepatic Encephalopathy	2	CTD_human
TNF	C0019187	Hepatitis, Alcoholic	1	CTD_human
TNF	C0019193	Hepatitis, Toxic	6	CTD_human
TNF	C0019202	Hepatolenticular Degeneration	1	CTD_human
TNF	C0019207	Hepatoma, Morris	1	CTD_human
TNF	C0019208	Hepatoma, Novikoff	1	CTD_human
TNF	C0020433	Hyperbilirubinemia	1	CTD_human
TNF	C0020437	Hypercalcemia	1	CTD_human
TNF	C0020459	Hyperinsulinism	1	CTD_human
TNF	C0020615	Hypoglycemia	1	CTD_human
TNF	C0022660	Kidney Failure, Acute	3	CTD_human
TNF	C0022661	Kidney Failure, Chronic	1	CTD_human
TNF	C0023212	Left-Sided Heart Failure	5	CTD_human
TNF	C0023281	Leishmaniasis	1	CTD_human
TNF	C0023283	Leishmaniasis, Cutaneous	1	CTD_human
TNF	C0023290	Leishmaniasis, Visceral	2	CTD_human
TNF	C0023860	Listeriosis	1	CTD_human
TNF	C0023891	Liver Cirrhosis, Alcoholic	1	CTD_human
TNF	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
TNF	C0024117	Chronic Obstructive Airway Disease	2	CTD_human
TNF	C0024623	Malignant neoplasm of stomach	2	CTD_human
TNF	C0025202	melanoma	4	CTD_human
TNF	C0026141	Milk-Alkali Syndrome	1	CTD_human
TNF	C0027051	Myocardial Infarction	2	CTD_human
TNF	C0027059	Myocarditis	2	CTD_human
TNF	C0028754	Obesity	4	CTD_human
TNF	C0029172	Oral Submucous Fibrosis	1	CTD_human
TNF	C0029458	Osteoporosis, Postmenopausal	1	CTD_human
TNF	C0030246	Pustulosis of Palms and Soles	2	CTD_human
TNF	C0030297	Pancreatic Neoplasm	1	CTD_human
TNF	C0030567	Parkinson Disease	1	CTD_human
TNF	C0032231	Pleurisy	1	CTD_human
TNF	C0032285	Pneumonia	2	CTD_human
TNF	C0032300	Lobar Pneumonia	2	CTD_human
TNF	C0032963	Pregnancy Complications, Cardiovascular	1	CTD_human
TNF	C0033860	Psoriasis	2	CTD_human
TNF	C0034067	Pulmonary Emphysema	1	CTD_human
TNF	C0034069	Pulmonary Fibrosis	5	CTD_human
TNF	C0035126	Reperfusion Injury	10	CTD_human
TNF	C0036341	Schizophrenia	1	CTD_human
TNF	C0036420	Localized scleroderma	1	CTD_human
TNF	C0036690	Septicemia	3	CTD_human
TNF	C0037926	Compression of spinal cord	1	CTD_human
TNF	C0038220	Status Epilepticus	1	CTD_human
TNF	C0038358	Gastric ulcer	1	CTD_human
TNF	C0038433	Streptozotocin Diabetes	6	CTD_human
TNF	C0040136	Thyroid Neoplasm	1	CTD_human
TNF	C0040997	Trigeminal Neuralgia	1	CTD_human
TNF	C0041696	Unipolar Depression	5	PSYGENET
TNF	C0042109	Urticaria	3	CTD_human
TNF	C0042900	Vitiligo	1	CTD_human
TNF	C0079218	Fibromatosis, Aggressive	1	CTD_human
TNF	C0085655	Polymyositis	1	CTD_human
TNF	C0086404	Experimental Hepatoma	1	CTD_human
TNF	C0086540	Leishmaniasis, New World	1	CTD_human
TNF	C0086541	Urban cutaneous leishmaniasis	1	CTD_human
TNF	C0151468	Thyroid Gland Follicular Adenoma	1	CTD_human
TNF	C0151744	Myocardial Ischemia	2	CTD_human
TNF	C0156147	Crohn's disease of large bowel	2	CTD_human
TNF	C0162557	Liver Failure, Acute	1	CTD_human
TNF	C0162668	Megaconial Myopathies	1	CTD_human
TNF	C0162669	Pleoconial Myopathies	1	CTD_human
TNF	C0162820	Dermatitis, Allergic Contact	1	CTD_human
TNF	C0205641	Adenocarcinoma, Basal Cell	2	CTD_human
TNF	C0205642	Adenocarcinoma, Oxyphilic	2	CTD_human
TNF	C0205643	Carcinoma, Cribriform	2	CTD_human
TNF	C0205644	Carcinoma, Granular Cell	2	CTD_human
TNF	C0205645	Adenocarcinoma, Tubular	2	CTD_human
TNF	C0205734	Diabetes, Autoimmune	1	CTD_human
TNF	C0205944	Sarcoma, Epithelioid	4	CTD_human
TNF	C0205945	Sarcoma, Spindle Cell	4	CTD_human
TNF	C0206145	Stunned Myocardium	1	CTD_human
TNF	C0206146	Myocardial Stunning	1	CTD_human
TNF	C0221056	Adult type dermatomyositis	1	CTD_human
TNF	C0221227	Centriacinar Emphysema	1	CTD_human
TNF	C0235527	Heart Failure, Right-Sided	5	CTD_human
TNF	C0242379	Malignant neoplasm of lung	2	CTD_human
TNF	C0243026	Sepsis	3	CTD_human
TNF	C0259783	mixed gliomas	1	CTD_human
TNF	C0263409	Linear Scleroderma	1	CTD_human
TNF	C0263666	Dermatomyositis, Childhood Type	1	CTD_human
TNF	C0263859	Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome	1	CTD_human
TNF	C0263984	Polymyositis Ossificans	1	CTD_human
TNF	C0264393	Panacinar Emphysema	1	CTD_human
TNF	C0264423	Asthma, Occupational	1	CTD_human
TNF	C0267380	Crohn's disease of the ileum	2	CTD_human
TNF	C0268318	Cholestasis of pregnancy	1	CTD_human
TNF	C0270823	Petit mal status	1	CTD_human
TNF	C0271710	Reactive hypoglycemia	1	CTD_human
TNF	C0273115	Lung Injury	2	CTD_human
TNF	C0274861	Arsenic Poisoning, Inorganic	1	CTD_human
TNF	C0274862	Nervous System, Organic Arsenic Poisoning	1	CTD_human
TNF	C0276496	Familial Alzheimer Disease (FAD)	1	CTD_human
TNF	C0311335	Grand Mal Status Epilepticus	1	CTD_human
TNF	C0311375	Arsenic Poisoning	1	CTD_human
TNF	C0340288	Stable angina	1	CTD_human
TNF	C0342302	Brittle diabetes	1	CTD_human
TNF	C0343755	HIV Wasting Syndrome	1	CTD_human
TNF	C0345904	Malignant neoplasm of liver	1	CTD_human
TNF	C0346647	Malignant neoplasm of pancreas	1	CTD_human
TNF	C0376280	Anxiety States, Neurotic	1	CTD_human
TNF	C0376416	Hibernation, Myocardial	1	CTD_human
TNF	C0392514	Hereditary hemochromatosis	1	CTD_human
TNF	C0393734	Complex Partial Status Epilepticus	1	CTD_human
TNF	C0393786	Trigeminal Neuralgia, Idiopathic	1	CTD_human
TNF	C0393787	Secondary Trigeminal Neuralgia	1	CTD_human
TNF	C0406537	Morbilliform Drug Reaction	1	CTD_human
TNF	C0494463	Alzheimer Disease, Late Onset	1	CTD_human
TNF	C0524610	Chronic Alcoholic Hepatitis	1	CTD_human
TNF	C0546126	Acute Confusional Senile Dementia	1	CTD_human
TNF	C0549473	Thyroid carcinoma	1	CTD_human
TNF	C0554591	Polymyositis, Idiopathic	1	CTD_human
TNF	C0555198	Malignant Glioma	1	CTD_human
TNF	C0598608	Hyperhomocysteinemia	1	CTD_human
TNF	C0600327	Toxic Shock Syndrome	1	CTD_human
TNF	C0600467	Neurogenic Inflammation	1	CTD_human
TNF	C0677050	Manganese Poisoning	1	CTD_human
TNF	C0678202	Regional enteritis	2	CTD_human
TNF	C0678222	Breast Carcinoma	3	CTD_human
TNF	C0742803	Conus Medullaris Syndrome	1	CTD_human
TNF	C0750900	Alzheimer's Disease, Focal Onset	1	CTD_human
TNF	C0750901	Alzheimer Disease, Early Onset	1	CTD_human
TNF	C0751197	Fulminant Hepatic Failure with Cerebral Edema	2	CTD_human
TNF	C0751198	Hepatic Stupor	2	CTD_human
TNF	C0751522	Status Epilepticus, Subclinical	1	CTD_human
TNF	C0751523	Non-Convulsive Status Epilepticus	1	CTD_human
TNF	C0751851	Arsenic Encephalopathy	1	CTD_human
TNF	C0751852	Arsenic Induced Polyneuropathy	1	CTD_human
TNF	C0751956	Acute Cerebrovascular Accidents	1	CTD_human
TNF	C0853897	Diabetic Cardiomyopathies	1	CTD_human
TNF	C0869523	Carditis	2	CTD_human
TNF	C0876994	Cardiotoxicity	1	CTD_human
TNF	C0887898	Experimental Lung Inflammation	2	CTD_human
TNF	C0917798	Cerebral Ischemia	1	CTD_human
TNF	C0948089	Acute Coronary Syndrome	1	CTD_human
TNF	C0948480	Coronary Restenosis	1	CTD_human
TNF	C0949272	IIeocolitis	2	CTD_human
TNF	C0949496	Luft Disease	1	CTD_human
TNF	C0971858	Arthritis, Collagen-Induced	9	CTD_human
TNF	C0993582	Arthritis, Experimental	9	CTD_human
TNF	C1257931	Mammary Neoplasms, Human	3	CTD_human
TNF	C1257963	Endogenous Hyperinsulinism	1	CTD_human
TNF	C1257964	Exogenous Hyperinsulinism	1	CTD_human
TNF	C1257965	Compensatory Hyperinsulinemia	1	CTD_human
TNF	C1262760	Hepatitis, Drug-Induced	6	CTD_human
TNF	C1269683	Major Depressive Disorder	5	PSYGENET
TNF	C1279420	Anxiety neurosis (finding)	1	CTD_human
TNF	C1527303	Chronic Airflow Obstruction	2	CTD_human
TNF	C1527352	Hepatic Form of Wilson Disease	1	CTD_human
TNF	C1527383	Morphea	1	CTD_human
TNF	C1565662	Acute Kidney Insufficiency	3	CTD_human
TNF	C1623038	Cirrhosis	1	CTD_human
TNF	C1704377	Bright Disease	2	CTD_human
TNF	C1708349	Hereditary Diffuse Gastric Cancer	2	CTD_human
TNF	C1719672	Severe Sepsis	3	CTD_human
TNF	C1862939	AMYOTROPHIC LATERAL SCLEROSIS 1	1	CTD_human
TNF	C1862941	Amyotrophic Lateral Sclerosis, Sporadic	1	CTD_human
TNF	C1959583	Myocardial Failure	5	CTD_human
TNF	C2239176	Liver carcinoma	1	CTD_human
TNF	C2350344	Chronic Lung Injury	2	CTD_human
TNF	C2350873	Beryllium Disease	4	CTD_human
TNF	C2350878	Focal Emphysema	1	CTD_human
TNF	C2609414	Acute kidney injury	3	CTD_human
TNF	C2711227	Steatohepatitis	1	CTD_human
TNF	C2930617	Pulmonary Fibrosis - from Asbestos Exposure	1	CTD_human
TNF	C3489728	Familial intrahepatic cholestasis of pregnancy	1	CTD_human
TNF	C3658290	Drug-Induced Acute Liver Injury	6	CTD_human
TNF	C3714636	Pneumonitis	2	CTD_human
TNF	C3837958	Diabetes Mellitus, Ketosis-Prone	1	CTD_human
TNF	C3891815	Arthritis, Suppurative	1	CTD_human
TNF	C4277682	Chemical and Drug Induced Liver Injury	6	CTD_human
TNF	C4279912	Chemically-Induced Liver Toxicity	6	CTD_human
TNF	C4551993	Amyotrophic Lateral Sclerosis, Familial	1	CTD_human
TNF	C4554117	Diabetes Mellitus, Sudden-Onset	1	CTD_human
TNF	C4704874	Mammary Carcinoma, Human	3	CTD_human
TNF	C4721507	Alveolitis, Fibrosing	5	CTD_human
TPR	C0040136	Thyroid Neoplasm	1	CTD_human
TPR	C0151468	Thyroid Gland Follicular Adenoma	1	CTD_human
TPR	C0238463	Papillary thyroid carcinoma	2	ORPHANET
TPR	C0549473	Thyroid carcinoma	1	CTD_human
TSC1	C0004352	Autistic Disorder	1	CTD_human
TSC1	C0007134	Renal Cell Carcinoma	1	CTD_human
TSC1	C0007137	Squamous cell carcinoma	1	CTD_human
TSC1	C0014544	Epilepsy	2	CTD_human
TSC1	C0022333	Jacksonian Seizure	1	CTD_human
TSC1	C0037769	West Syndrome	1	CTD_human
TSC1	C0041341	Tuberous Sclerosis	11	CLINGEN;CTD_human;GENOMICS_ENGLAND
TSC1	C0086237	Epilepsy, Cryptogenic	2	CTD_human
TSC1	C0149958	Complex partial seizures	1	CTD_human
TSC1	C0234533	Generalized seizures	1	CTD_human
TSC1	C0234535	Clonic Seizures	1	CTD_human
TSC1	C0265319	Fibrous skin tumor of tuberous sclerosis	3	CTD_human
TSC1	C0270824	Visual seizure	1	CTD_human
TSC1	C0270846	Epileptic drop attack	1	CTD_human
TSC1	C0279607	Adult Hepatocellular Carcinoma	1	ORPHANET
TSC1	C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	1	CGI;CTD_human
TSC1	C0393698	Cryptogenic Infantile Spasms	1	CTD_human
TSC1	C0393699	Symptomatic Infantile Spasms	1	CTD_human
TSC1	C0494475	Tonic - clonic seizures	1	CTD_human
TSC1	C0546878	Nodding spasm	1	CTD_human
TSC1	C0553558	Jackknife Seizures	1	CTD_human
TSC1	C0751110	Single Seizure	1	CTD_human
TSC1	C0751111	Awakening Epilepsy	2	CTD_human
TSC1	C0751674	Lymphangioleiomyomatosis	3	CTD_human;GENOMICS_ENGLAND;ORPHANET
TSC1	C0751776	Atypical Inclusion-Body Disease	1	CTD_human
TSC1	C0751777	Familial Progressive Myoclonic Epilepsy	1	CTD_human
TSC1	C0751778	Myoclonic Epilepsies, Progressive	1	CTD_human
TSC1	C0751779	Action Myoclonus-Renal Failure Syndrome	1	CTD_human
TSC1	C0751780	Biotin-Responsive Encephalopathy	1	CTD_human
TSC1	C0751781	Dentatorubral-Pallidoluysian Atrophy	1	CTD_human
TSC1	C0751782	May-White Syndrome	1	CTD_human
TSC1	C1266042	Chromophobe Renal Cell Carcinoma	1	CTD_human
TSC1	C1266043	Sarcomatoid Renal Cell Carcinoma	1	CTD_human
TSC1	C1266044	Collecting Duct Carcinoma of the Kidney	1	CTD_human
TSC1	C1306837	Papillary Renal Cell Carcinoma	1	CTD_human
TSC1	C1527306	spasmus nutans	1	CTD_human
TSC1	C1527366	Salaam Seizures	1	CTD_human
TSC1	C1846385	FOCAL CORTICAL DYSPLASIA OF TAYLOR	2	CTD_human;GENOMICS_ENGLAND;UNIPROT
TSC1	C1846386	Focal Cortical Dysplasia of Taylor, Type IIa	2	CTD_human
TSC1	C1846389	Focal Cortical Dysplasia of Taylor, Type IIb	2	CTD_human
TSC1	C1854465	TUBEROUS SCLEROSIS 1 (disorder)	19	CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
TSC1	C2239176	Liver carcinoma	1	CTD_human
TUFM	C0546837	Malignant neoplasm of esophagus	1	CTD_human
TUFM	C1857682	Combined Oxidative Phosphorylation Deficiency 4	4	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TYMS	C0002871	Anemia	1	CTD_human
TYMS	C0006142	Malignant neoplasm of breast	3	CTD_human
TYMS	C0007102	Malignant tumor of colon	6	CTD_human
TYMS	C0007113	Rectal Carcinoma	1	CTD_human
TYMS	C0007137	Squamous cell carcinoma	1	CTD_human
TYMS	C0008924	Cleft upper lip	1	CTD_human
TYMS	C0008925	Cleft Palate	1	CTD_human
TYMS	C0009402	Colorectal Carcinoma	11	CTD_human
TYMS	C0024301	Lymphoma, Follicular	1	CTD_human
TYMS	C0024302	Reticulosarcoma	1	CTD_human
TYMS	C0024304	Lymphoma, Mixed-Cell	1	CTD_human
TYMS	C0024305	Lymphoma, Non-Hodgkin	1	CTD_human
TYMS	C0024306	Lymphoma, Undifferentiated	1	CTD_human
TYMS	C0024623	Malignant neoplasm of stomach	4	CTD_human
TYMS	C0030297	Pancreatic Neoplasm	1	CTD_human
TYMS	C0079740	High Grade Lymphoma (neoplasm)	1	CTD_human
TYMS	C0079741	Lymphoma, Intermediate-Grade	1	CTD_human
TYMS	C0079745	Lymphoma, Large-Cell, Follicular	1	CTD_human
TYMS	C0079747	Low Grade Lymphoma (neoplasm)	1	CTD_human
TYMS	C0079757	Diffuse Mixed-Cell Lymphoma	1	CTD_human
TYMS	C0079758	Lymphoma, Mixed-Cell, Follicular	1	CTD_human
TYMS	C0079765	Lymphoma, Small Cleaved-Cell, Follicular	1	CTD_human
TYMS	C0079770	Lymphoma, Small Noncleaved-Cell	1	CTD_human
TYMS	C0152013	Adenocarcinoma of lung (disorder)	1	CTD_human
TYMS	C0153349	Malignant neoplasm of tongue	1	CTD_human
TYMS	C0242379	Malignant neoplasm of lung	2	CTD_human
TYMS	C0278996	Malignant Head and Neck Neoplasm	1	CTD_human
TYMS	C0346647	Malignant neoplasm of pancreas	1	CTD_human
TYMS	C0376358	Malignant neoplasm of prostate	1	CTD_human
TYMS	C0678222	Breast Carcinoma	3	CTD_human
TYMS	C0746787	Cancer of Neck	1	CTD_human
TYMS	C0751075	Cancer of Digestive System	1	CTD_human
TYMS	C0751177	Cancer of Head	1	CTD_human
TYMS	C0919267	ovarian neoplasm	1	CTD_human
TYMS	C1140680	Malignant neoplasm of ovary	1	CTD_human
TYMS	C1257931	Mammary Neoplasms, Human	3	CTD_human
TYMS	C1708349	Hereditary Diffuse Gastric Cancer	4	CTD_human
TYMS	C1837218	Cleft palate, isolated	1	CTD_human
TYMS	C1956130	Lymphoma, Follicular, Grade 1	1	CTD_human
TYMS	C1956131	Lymphoma, Follicular, Grade 3	1	CTD_human
TYMS	C1956132	Lymphoma, Follicular, Grade 2	1	CTD_human
TYMS	C2239176	Liver carcinoma	2	CTD_human
TYMS	C3714542	Lymphoma, Diffuse	1	CTD_human
TYMS	C4704874	Mammary Carcinoma, Human	3	CTD_human
TYMS	C4721532	Lymphoma, Non-Hodgkin, Familial	1	CTD_human
UCN	C0011570	Mental Depression	2	PSYGENET
UCN	C0011581	Depressive disorder	2	PSYGENET
UCN	C0376280	Anxiety States, Neurotic	1	CTD_human
UCN	C1279420	Anxiety neurosis (finding)	1	CTD_human
VARS1	C4540493	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY	3	GENOMICS_ENGLAND;UNIPROT
VIM	C0006142	Malignant neoplasm of breast	4	CTD_human
VIM	C0007140	Carcinosarcoma	1	CTD_human
VIM	C0019193	Hepatitis, Toxic	1	CTD_human
VIM	C0023890	Liver Cirrhosis	2	CTD_human
VIM	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
VIM	C0027720	Nephrosis	1	CTD_human
VIM	C0029408	Degenerative polyarthritis	2	CTD_human
VIM	C0035126	Reperfusion Injury	1	CTD_human
VIM	C0039101	synovial sarcoma	1	CTD_human
VIM	C0085084	Motor Neuron Disease	1	CTD_human
VIM	C0086543	Cataract	1	CTD_human
VIM	C0086743	Osteoarthrosis Deformans	2	CTD_human
VIM	C0154681	Anterior Horn Cell Disease	1	CTD_human
VIM	C0154682	Lateral Sclerosis	1	CTD_human
VIM	C0239946	Fibrosis, Liver	2	CTD_human
VIM	C0270763	Familial Motor Neuron Disease	1	CTD_human
VIM	C0270764	Motor Neuron Disease, Lower	1	CTD_human
VIM	C0345967	Malignant mesothelioma	1	CTD_human
VIM	C0346990	Carcinomatosis of peritoneal cavity	1	CTD_human
VIM	C0376358	Malignant neoplasm of prostate	2	CTD_human
VIM	C0521659	Motor Neuron Disease, Upper	1	CTD_human
VIM	C0524524	Pseudoaphakia	1	CTD_human
VIM	C0543858	Motor Neuron Disease, Secondary	1	CTD_human
VIM	C0678222	Breast Carcinoma	4	CTD_human
VIM	C0948089	Acute Coronary Syndrome	1	CTD_human
VIM	C1257931	Mammary Neoplasms, Human	4	CTD_human
VIM	C1262760	Hepatitis, Drug-Induced	1	CTD_human
VIM	C1833118	Cataract, Pulverulent	1	ORPHANET
VIM	C1852438	CATARACT, COPPOCK-LIKE	1	ORPHANET
VIM	C1862939	AMYOTROPHIC LATERAL SCLEROSIS 1	1	CTD_human
VIM	C1862941	Amyotrophic Lateral Sclerosis, Sporadic	1	CTD_human
VIM	C3658290	Drug-Induced Acute Liver Injury	1	CTD_human
VIM	C3805411	CATARACT 30	4	GENOMICS_ENGLAND;UNIPROT
VIM	C4277682	Chemical and Drug Induced Liver Injury	1	CTD_human
VIM	C4279912	Chemically-Induced Liver Toxicity	1	CTD_human
VIM	C4551993	Amyotrophic Lateral Sclerosis, Familial	1	CTD_human
VIM	C4704874	Mammary Carcinoma, Human	4	CTD_human
WARS1	C0238463	Papillary thyroid carcinoma	1	CTD_human
WARS1	C3501843	Nonmedullary Thyroid Carcinoma	1	CTD_human
WARS1	C3501844	Familial Nonmedullary Thyroid Cancer	1	CTD_human
WARS1	C4540265	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IX	1	GENOMICS_ENGLAND;UNIPROT
ZFP36	C0002170	Alopecia	1	CTD_human
ZFP36	C0003864	Arthritis	1	CTD_human
ZFP36	C0011603	Dermatitis	1	CTD_human
ZFP36	C0086873	Pseudopelade	1	CTD_human
ZFP36	C0151744	Myocardial Ischemia	1	CTD_human
ZFP36	C0162311	Androgenetic Alopecia	1	CTD_human
ZFP36	C0162323	Polyarthritis	1	CTD_human
ZFP36	C2239176	Liver carcinoma	1	CTD_human
ZFP36	C4083212	Alopecia, Male Pattern	1	CTD_human
CNBP	C2931689	Dystrophia myotonica 2	1	CTD_human;GENOMICS_ENGLAND
CSDE1	C0004352	Autistic Disorder	1	GENOMICS_ENGLAND
CSDE1	C0557874	Global developmental delay	1	GENOMICS_ENGLAND
BTG2	C0263454	Chloracne	1	CTD_human
BTG2	C2239176	Liver carcinoma	1	CTD_human
SLBP	C0009363	Congenital ocular coloboma (disorder)	1	CTD_human
SLBP	C0029124	Optic Atrophy	1	CTD_human
SLBP	C0035313	Retinal Dysplasia	1	CTD_human
SLBP	C4554007	Uveoretinal Coloboma	1	CTD_human
AIMP2	C0037769	West Syndrome	1	GENOMICS_ENGLAND
AIMP2	C0543888	Epileptic encephalopathy	1	GENOMICS_ENGLAND
AIMP2	C4693912	LEUKODYSTROPHY, HYPOMYELINATING, 17	2	GENOMICS_ENGLAND
ENC1	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
YARS1	C1842237	Charcot-Marie-Tooth Disease, Dominant Intermediate C	2	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
MKNK1	C0029231	Organic Mental Disorders, Substance-Induced	1	CTD_human
MKNK1	C0038580	Substance Dependence	1	CTD_human
MKNK1	C0740858	Substance abuse problem	1	CTD_human
KHSRP	C0149925	Small cell carcinoma of lung	1	CTD_human
EIF3A	C0376358	Malignant neoplasm of prostate	1	CTD_human
EIF3B	C4505456	HIV Coinfection	1	CTD_human
EIF3F	C0018784	Sensorineural Hearing Loss (disorder)	1	GENOMICS_ENGLAND
EIF3F	C4749019	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67	1	UNIPROT
EIF3G	C0027404	Narcolepsy	1	GENOMICS_ENGLAND
EIF3H	C0009402	Colorectal Carcinoma	1	CTD_human
EIF3H	C0376358	Malignant neoplasm of prostate	1	CTD_human
EIF3H	C2239176	Liver carcinoma	1	CTD_human
EIF3I	C0007102	Malignant tumor of colon	1	CTD_human
PABPC4	C0152013	Adenocarcinoma of lung (disorder)	1	CTD_human
PER2	C0001969	Alcoholic Intoxication	1	CTD_human
PER2	C0005586	Bipolar Disorder	4	PSYGENET
PER2	C0011570	Mental Depression	5	PSYGENET
PER2	C0011581	Depressive disorder	5	PSYGENET
PER2	C0023473	Myeloid Leukemia, Chronic	1	CTD_human
PER2	C0038587	Substance Withdrawal Syndrome	2	CTD_human
PER2	C0221074	Depression, Postpartum	2	PSYGENET
PER2	C0600427	Cocaine Dependence	2	PSYGENET
PER2	C1858496	Advanced Sleep-Phase Syndrome, Familial	1	CTD_human;ORPHANET
PER2	C3807327	ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1	1	GENOMICS_ENGLAND;UNIPROT
EIF2B4	C0152013	Adenocarcinoma of lung (disorder)	1	CTD_human
EIF2B4	C1847967	OVARIOLEUKODYSTROPHY	2	CTD_human;ORPHANET
EIF2B4	C1858991	Childhood Ataxia with Central Nervous System Hypomyelinization	8	GENOMICS_ENGLAND;ORPHANET;UNIPROT
EIF2B3	C1847967	OVARIOLEUKODYSTROPHY	1	CTD_human;ORPHANET
EIF2B3	C1858991	Childhood Ataxia with Central Nervous System Hypomyelinization	6	GENOMICS_ENGLAND;ORPHANET;UNIPROT
EIF2B2	C1847967	OVARIOLEUKODYSTROPHY	2	CTD_human;ORPHANET
EIF2B2	C1858991	Childhood Ataxia with Central Nervous System Hypomyelinization	12	GENOMICS_ENGLAND;ORPHANET;UNIPROT
EIF2B5	C0152013	Adenocarcinoma of lung (disorder)	1	CTD_human
EIF2B5	C0338656	Impaired cognition	1	GENOMICS_ENGLAND
EIF2B5	C0393525	Progressive cerebellar ataxia	1	GENOMICS_ENGLAND
EIF2B5	C1847967	OVARIOLEUKODYSTROPHY	2	CTD_human;ORPHANET
EIF2B5	C1858991	Childhood Ataxia with Central Nervous System Hypomyelinization	8	GENOMICS_ENGLAND;ORPHANET;UNIPROT
EIF2S2	C0006142	Malignant neoplasm of breast	1	CTD_human
EIF2S2	C0678222	Breast Carcinoma	1	CTD_human
EIF2S2	C1257931	Mammary Neoplasms, Human	1	CTD_human
EIF2S2	C4704874	Mammary Carcinoma, Human	1	CTD_human
RPL14	C0007134	Renal Cell Carcinoma	1	CTD_human
RPL14	C0030567	Parkinson Disease	1	CTD_human
RPL14	C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	1	CTD_human
RPL14	C1266042	Chromophobe Renal Cell Carcinoma	1	CTD_human
RPL14	C1266043	Sarcomatoid Renal Cell Carcinoma	1	CTD_human
RPL14	C1266044	Collecting Duct Carcinoma of the Kidney	1	CTD_human
RPL14	C1306837	Papillary Renal Cell Carcinoma	1	CTD_human
NEMF	C1510586	Autism Spectrum Disorders	1	CTD_human
NEURL1	C0004238	Atrial Fibrillation	2	CTD_human
NEURL1	C0009402	Colorectal Carcinoma	1	CTD_human
NEURL1	C0235480	Paroxysmal atrial fibrillation	2	CTD_human
AIMP1	C1850053	Pelizaeus-Merzbacher-like disease, autosomal recessive, 2	3	CTD_human;GENOMICS_ENGLAND;ORPHANET
PIWIL1	C0029231	Organic Mental Disorders, Substance-Induced	1	CTD_human
PIWIL1	C0038580	Substance Dependence	1	CTD_human
PIWIL1	C0740858	Substance abuse problem	1	CTD_human
TRIP4	C4225177	SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1	2	CTD_human;GENOMICS_ENGLAND
TRIP4	C4310736	MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE	1	CTD_human;ORPHANET
RPL23	C1260899	Anemia, Diamond-Blackfan	1	GENOMICS_ENGLAND
QKI	C0017638	Glioma	1	CTD_human
QKI	C0036341	Schizophrenia	5	PSYGENET
QKI	C0041696	Unipolar Depression	1	PSYGENET
QKI	C0259783	mixed gliomas	1	CTD_human
QKI	C0555198	Malignant Glioma	1	CTD_human
QKI	C1269683	Major Depressive Disorder	1	PSYGENET
QKI	C2363903	Angiocentric glioma	1	ORPHANET
EIF2AK3	C0038220	Status Epilepticus	1	CTD_human
EIF2AK3	C0038868	Progressive supranuclear palsy	1	CTD_human
EIF2AK3	C0151744	Myocardial Ischemia	1	CTD_human
EIF2AK3	C0270823	Petit mal status	1	CTD_human
EIF2AK3	C0311335	Grand Mal Status Epilepticus	1	CTD_human
EIF2AK3	C0393734	Complex Partial Status Epilepticus	1	CTD_human
EIF2AK3	C0432217	Wolcott-Rallison syndrome	4	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
EIF2AK3	C0751522	Status Epilepticus, Subclinical	1	CTD_human
EIF2AK3	C0751523	Non-Convulsive Status Epilepticus	1	CTD_human
EIF2AK3	C4551862	Ophthalmoplegia, Progressive Supranuclear	1	CTD_human
EIF2AK3	C4551863	Supranuclear Palsy, Progressive, 1	1	CTD_human
ROCK2	C0018801	Heart failure	1	CTD_human
ROCK2	C0018802	Congestive heart failure	1	CTD_human
ROCK2	C0023212	Left-Sided Heart Failure	1	CTD_human
ROCK2	C0235527	Heart Failure, Right-Sided	1	CTD_human
ROCK2	C1959583	Myocardial Failure	1	CTD_human
GTPBP1	C4505353	Diverticular Bleeding	1	CTD_human
BZW1	C0025202	melanoma	1	CTD_human
PUM1	C0010417	Cryptorchidism	1	GENOMICS_ENGLAND
PUM1	C0019193	Hepatitis, Toxic	1	CTD_human
PUM1	C0557874	Global developmental delay	1	GENOMICS_ENGLAND
PUM1	C1262760	Hepatitis, Drug-Induced	1	CTD_human
PUM1	C3658290	Drug-Induced Acute Liver Injury	1	CTD_human
PUM1	C4277682	Chemical and Drug Induced Liver Injury	1	CTD_human
PUM1	C4279912	Chemically-Induced Liver Toxicity	1	CTD_human
PUM1	C4693672	SPINOCEREBELLAR ATAXIA 47	1	GENOMICS_ENGLAND;UNIPROT
SECISBP2L	C0242379	Malignant neoplasm of lung	1	CTD_human
EIF4A3	C0008925	Cleft Palate	1	GENOMICS_ENGLAND
EIF4A3	C0009081	Congenital clubfoot	1	GENOMICS_ENGLAND
EIF4A3	C0013336	Dwarfism	1	GENOMICS_ENGLAND
EIF4A3	C0031900	Pierre Robin Syndrome	1	GENOMICS_ENGLAND
EIF4A3	C0152423	Congenital small ears	1	GENOMICS_ENGLAND
EIF4A3	C0158489	Acquired clubfoot	1	GENOMICS_ENGLAND
EIF4A3	C1849348	Richieri Costa Pereira syndrome	5	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
RBM8A	C0175703	Thrombocytopenia-Absent Radius Syndrome	3	CTD_human;GENOMICS_ENGLAND;ORPHANET
RBM8A	C3554656	DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5	1	GENOMICS_ENGLAND
RBM8A	C4225346	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3	1	GENOMICS_ENGLAND
FARSB	C0025958	Microcephaly	1	GENOMICS_ENGLAND
FARSB	C3150910	Brain calcification Rajab type	3	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TSFM	C1864840	Combined Oxidative Phosphorylation Deficiency 3	6	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
LRPPRC	C0023264	Leigh Disease	8	CLINGEN
LRPPRC	C1838951	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	8	CLINGEN
LRPPRC	C1850597	Leigh Syndrome Due To Mitochondrial Complex II Deficiency	8	CLINGEN
LRPPRC	C1850598	Leigh Syndrome due to Mitochondrial Complex III Deficiency	8	CLINGEN
LRPPRC	C1850599	Leigh Syndrome due to Mitochondrial Complex IV Deficiency	8	CLINGEN
LRPPRC	C1850600	Leigh Syndrome due to Mitochondrial Complex V Deficiency	8	CLINGEN
LRPPRC	C1857355	Leigh syndrome , French Canadian type	4	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
LRPPRC	C2931891	Necrotizing encephalopathy, infantile subacute, of Leigh	8	CLINGEN
TRAP1	C0024623	Malignant neoplasm of stomach	1	CTD_human
TRAP1	C0029408	Degenerative polyarthritis	1	CTD_human
TRAP1	C0086743	Osteoarthrosis Deformans	1	CTD_human
TRAP1	C1708349	Hereditary Diffuse Gastric Cancer	1	CTD_human
TRAP1	C1968949	Cakut	1	GENOMICS_ENGLAND
TRAP1	C4225671	VATER/VACTERL ASSOCIATION	1	GENOMICS_ENGLAND
TOB1	C0014175	Endometriosis	1	CTD_human
TOB1	C0263454	Chloracne	1	CTD_human
TOB1	C0269102	Endometrioma	1	CTD_human
TNIP1	C0004096	Asthma	1	CTD_human
TNIP1	C0006142	Malignant neoplasm of breast	1	CTD_human
TNIP1	C0024141	Lupus Erythematosus, Systemic	7	CTD_human;ORPHANET
TNIP1	C0030246	Pustulosis of Palms and Soles	2	CTD_human
TNIP1	C0033860	Psoriasis	2	CTD_human
TNIP1	C0036421	Systemic Scleroderma	1	CTD_human
TNIP1	C0086981	Sicca Syndrome	1	CTD_human
TNIP1	C0242380	Libman-Sacks Disease	2	CTD_human
TNIP1	C0678222	Breast Carcinoma	1	CTD_human
TNIP1	C1257931	Mammary Neoplasms, Human	1	CTD_human
TNIP1	C1527336	Sjogren's Syndrome	1	CTD_human
TNIP1	C4704874	Mammary Carcinoma, Human	1	CTD_human
WARS2	C4540192	NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES	3	GENOMICS_ENGLAND;UNIPROT
RACK1	C0001973	Alcoholic Intoxication, Chronic	1	PSYGENET
RACK1	C0005586	Bipolar Disorder	1	PSYGENET
RACK1	C0007137	Squamous cell carcinoma	1	CTD_human
SYNCRIP	C0023418	leukemia	1	CTD_human
IGF2BP1	C2239176	Liver carcinoma	1	CTD_human
IGF2BP3	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
IGF2BP3	C0345967	Malignant mesothelioma	1	CTD_human
IGF2BP3	C0346990	Carcinomatosis of peritoneal cavity	1	CTD_human
IGF2BP3	C2239176	Liver carcinoma	1	CTD_human
IGF2BP2	C0036341	Schizophrenia	1	PSYGENET
IGF2BP2	C0221765	Chronic schizophrenia	1	PSYGENET
FARS2	C0023264	Leigh Disease	7	CLINGEN
FARS2	C1838951	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	7	CLINGEN
FARS2	C1850597	Leigh Syndrome Due To Mitochondrial Complex II Deficiency	7	CLINGEN
FARS2	C1850598	Leigh Syndrome due to Mitochondrial Complex III Deficiency	7	CLINGEN
FARS2	C1850599	Leigh Syndrome due to Mitochondrial Complex IV Deficiency	7	CLINGEN
FARS2	C1850600	Leigh Syndrome due to Mitochondrial Complex V Deficiency	7	CLINGEN
FARS2	C2931891	Necrotizing encephalopathy, infantile subacute, of Leigh	7	CLINGEN
FARS2	C3554168	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14	4	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
FARS2	C4310750	SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE	3	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TMED2	C0151744	Myocardial Ischemia	1	CTD_human
ASCC3	C0020796	Profound Mental Retardation	1	CTD_human
ASCC3	C0917816	Mental deficiency	1	CTD_human
COPS5	C0014518	Toxic Epidermal Necrolysis	1	CTD_human
COPS5	C0038325	Stevens-Johnson Syndrome	1	CTD_human
COPS5	C1274933	Drug-Induced Stevens Johnson Syndrome	1	CTD_human
COPS5	C2239176	Liver carcinoma	1	CTD_human
COPS5	C3658301	Mycoplasma-Induced Stevens-Johnson Syndrome	1	CTD_human
COPS5	C3658302	Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum	1	CTD_human
MRPL3	C3281234	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9	2	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
RPL35	C1260899	Anemia, Diamond-Blackfan	1	GENOMICS_ENGLAND;ORPHANET
RPL35	C2931850	Aase Smith syndrome 2	1	ORPHANET
EXOSC8	C1843504	Pontocerebellar Hypoplasia Type 1	1	ORPHANET
EXOSC8	C4015160	PONTOCEREBELLAR HYPOPLASIA, TYPE 1C	2	CTD_human;GENOMICS_ENGLAND;UNIPROT
CPEB3	C2239176	Liver carcinoma	1	CTD_human
FASTKD2	C0268237	Cytochrome-c Oxidase Deficiency	2	CTD_human;GENOMICS_ENGLAND
FASTKD2	C4755278	FASTKD2-related infantile mitochondrial encephalomyopathy	1	ORPHANET
CNOT1	C0557874	Global developmental delay	1	GENOMICS_ENGLAND
SAMD4A	C0029231	Organic Mental Disorders, Substance-Induced	1	CTD_human
SAMD4A	C0038580	Substance Dependence	1	CTD_human
SAMD4A	C0740858	Substance abuse problem	1	CTD_human
TNRC6B	C0032460	Polycystic Ovary Syndrome	1	CTD_human
TNRC6B	C1136382	Sclerocystic Ovaries	1	CTD_human
PASK	C0004352	Autistic Disorder	1	CTD_human
PASK	C2931817	Chromosome 2q37 deletion syndrome	1	CTD_human
LARP4B	C2931456	Prostate cancer, familial	1	CTD_human
LARP4B	C4722327	PROSTATE CANCER, HEREDITARY, 1	1	CTD_human
CYFIP1	C0036341	Schizophrenia	1	PSYGENET
LARS2	C0005586	Bipolar Disorder	1	PSYGENET
LARS2	C0036341	Schizophrenia	1	PSYGENET
LARS2	C0685838	Gonadal dysgenesis XX type deafness	10	CLINGEN;GENOMICS_ENGLAND;ORPHANET
LARS2	C3809105	PERRAULT SYNDROME 4	3	GENOMICS_ENGLAND;UNIPROT
LARS2	C4310761	HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA	1	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TARDBP	C0002736	Amyotrophic Lateral Sclerosis	7	CTD_human;ORPHANET
TARDBP	C0338451	Frontotemporal dementia	2	GENOMICS_ENGLAND
TARDBP	C0393554	Amyotrophic Lateral Sclerosis With Dementia	6	CTD_human
TARDBP	C0543859	Amyotrophic Lateral Sclerosis, Guam Form	6	CTD_human
TARDBP	C0751072	Frontotemporal Lobar Degeneration	2	CTD_human
TARDBP	C2677565	AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)	14	GENOMICS_ENGLAND;UNIPROT
HARS2	C0685838	Gonadal dysgenesis XX type deafness	1	ORPHANET
HARS2	C3554105	PERRAULT SYNDROME 2	4	CLINGEN;GENOMICS_ENGLAND;UNIPROT
RPL13A	C0152013	Adenocarcinoma of lung (disorder)	1	CTD_human
FTSJ1	C0796215	Mental Retardation, X-Linked 9	1	CTD_human;GENOMICS_ENGLAND
FTSJ1	C2931498	Mental Retardation, X-Linked 1	1	ORPHANET
FTSJ1	C3501611	Mental Retardation, X-Linked Nonsyndromic	7	CLINGEN
RPL36	C1260899	Anemia, Diamond-Blackfan	1	GENOMICS_ENGLAND
PARS2	C0205710	Alpers Syndrome (disorder)	2	GENOMICS_ENGLAND
AGO1	C0001973	Alcoholic Intoxication, Chronic	1	PSYGENET
AGO1	C0004352	Autistic Disorder	1	GENOMICS_ENGLAND
AGO1	C0345967	Malignant mesothelioma	1	CTD_human
AGO1	C0557874	Global developmental delay	1	GENOMICS_ENGLAND
PABPC1	C0005684	Malignant neoplasm of urinary bladder	1	CTD_human
PABPC1	C0005695	Bladder Neoplasm	1	CTD_human
PABPC1	C0006142	Malignant neoplasm of breast	1	CTD_human
PABPC1	C0007138	Carcinoma, Transitional Cell	1	CTD_human
PABPC1	C0678222	Breast Carcinoma	1	CTD_human
PABPC1	C1257931	Mammary Neoplasms, Human	1	CTD_human
PABPC1	C4704874	Mammary Carcinoma, Human	1	CTD_human
EIF2AK1	C0002878	Anemia, Hemolytic	1	CTD_human
EIF2AK1	C0002879	Anemia, Hemolytic, Acquired	1	CTD_human
EIF2AK1	C0002889	Anemia, Microangiopathic	1	CTD_human
EIF2AK1	C0019193	Hepatitis, Toxic	1	CTD_human
EIF2AK1	C0035222	Respiratory Distress Syndrome, Adult	1	CTD_human
EIF2AK1	C0221021	Microangiopathic hemolytic anemia	1	CTD_human
EIF2AK1	C0400966	Non-alcoholic Fatty Liver Disease	1	CTD_human
EIF2AK1	C1262760	Hepatitis, Drug-Induced	1	CTD_human
EIF2AK1	C3241937	Nonalcoholic Steatohepatitis	1	CTD_human
EIF2AK1	C3658290	Drug-Induced Acute Liver Injury	1	CTD_human
EIF2AK1	C4277682	Chemical and Drug Induced Liver Injury	1	CTD_human
EIF2AK1	C4279912	Chemically-Induced Liver Toxicity	1	CTD_human
AGO2	C0001973	Alcoholic Intoxication, Chronic	1	PSYGENET
AGO2	C0009171	Cocaine Abuse	1	CTD_human
AGO2	C0023466	Leukemia, Monocytic, Chronic	1	CTD_human
AGO2	C0023470	Myeloid Leukemia	1	CTD_human
AGO2	C0345967	Malignant mesothelioma	1	CTD_human
AGO2	C0600427	Cocaine Dependence	1	CTD_human
TNRC6A	C0014550	Myoclonic Epilepsy	1	CTD_human
TNRC6A	C0338478	Idiopathic Myoclonic Epilepsy	1	CTD_human
TNRC6A	C0338479	Symptomatic Myoclonic Epilepsy	1	CTD_human
TNRC6A	C0393695	Early Childhood Epilepsy, Myoclonic	1	CTD_human
TNRC6A	C0393702	Myoclonic Astatic Epilepsy	1	CTD_human
TNRC6A	C0393703	Myoclonic Absence Epilepsy	1	CTD_human
TNRC6A	C0438414	Myoclonic Encephalopathy	1	CTD_human
TNRC6A	C0751120	Benign Infantile Myoclonic Epilepsy	1	CTD_human
TNRC6A	C0751122	Infantile Severe Myoclonic Epilepsy	1	CTD_human
TNRC6A	C0917800	Epilepsy, Myoclonic, Infantile	1	CTD_human
MRPS28	C0006142	Malignant neoplasm of breast	1	CTD_human
MRPS28	C0678222	Breast Carcinoma	1	CTD_human
MRPS28	C1257931	Mammary Neoplasms, Human	1	CTD_human
MRPS28	C4704874	Mammary Carcinoma, Human	1	CTD_human
COA3	C0268237	Cytochrome-c Oxidase Deficiency	1	ORPHANET
DCPS	C4085595	AL-RAQAD SYNDROME	2	CTD_human;GENOMICS_ENGLAND;UNIPROT
BZW2	C0152013	Adenocarcinoma of lung (disorder)	1	CTD_human
MRPS18B	C0024623	Malignant neoplasm of stomach	1	CTD_human
MRPS18B	C1708349	Hereditary Diffuse Gastric Cancer	1	CTD_human
MRPL13	C0006142	Malignant neoplasm of breast	1	CTD_human
MRPL13	C0007137	Squamous cell carcinoma	1	CTD_human
MRPL13	C0024623	Malignant neoplasm of stomach	1	CTD_human
MRPL13	C0678222	Breast Carcinoma	1	CTD_human
MRPL13	C1257931	Mammary Neoplasms, Human	1	CTD_human
MRPL13	C1708349	Hereditary Diffuse Gastric Cancer	1	CTD_human
MRPL13	C4704874	Mammary Carcinoma, Human	1	CTD_human
METTL5	C0025958	Microcephaly	1	GENOMICS_ENGLAND
MRPS16	C1864843	Combined Oxidative Phosphorylation Deficiency 2	4	CTD_human;GENOMICS_ENGLAND;ORPHANET
YARS2	C1838103	MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA	4	CTD_human;ORPHANET
YARS2	C3150802	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2	5	GENOMICS_ENGLAND;UNIPROT
MRPS7	C0006142	Malignant neoplasm of breast	1	CTD_human
MRPS7	C0678222	Breast Carcinoma	1	CTD_human
MRPS7	C1257931	Mammary Neoplasms, Human	1	CTD_human
MRPS7	C4693450	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34	1	GENOMICS_ENGLAND;ORPHANET;UNIPROT
MRPS7	C4704874	Mammary Carcinoma, Human	1	CTD_human
SEPSECS	C0266468	Congenital pontocerebellar hypoplasia	2	GENOMICS_ENGLAND
SEPSECS	C2932714	Pontocerebellar Hypoplasia Type 2	1	ORPHANET
SEPSECS	C3151140	PONTOCEREBELLAR HYPOPLASIA, TYPE 2D	5	CTD_human;GENOMICS_ENGLAND;UNIPROT
MRPS2	C4693722	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36	1	GENOMICS_ENGLAND;UNIPROT
TACO1	C0023264	Leigh Disease	3	CLINGEN;CTD_human;GENOMICS_ENGLAND
TACO1	C0268237	Cytochrome-c Oxidase Deficiency	3	CTD_human;GENOMICS_ENGLAND
TACO1	C0751267	Encephalopathy, Subacute Necrotizing, Infantile	1	CTD_human
TACO1	C0751268	Encephalopathy, Subacute Necrotizing, Juvenile	1	CTD_human
TACO1	C1838951	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	3	CLINGEN
TACO1	C1850597	Leigh Syndrome Due To Mitochondrial Complex II Deficiency	3	CLINGEN
TACO1	C1850598	Leigh Syndrome due to Mitochondrial Complex III Deficiency	3	CLINGEN
TACO1	C1850599	Leigh Syndrome due to Mitochondrial Complex IV Deficiency	3	CLINGEN;GENOMICS_ENGLAND
TACO1	C1850600	Leigh Syndrome due to Mitochondrial Complex V Deficiency	3	CLINGEN
TACO1	C2931891	Necrotizing encephalopathy, infantile subacute, of Leigh	3	CLINGEN
PAIP2	C0009402	Colorectal Carcinoma	1	CTD_human
YTHDF2	C2239176	Liver carcinoma	1	CTD_human
LARS1	C3809522	INFANTILE LIVER FAILURE SYNDROME 1	1	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
MRPS33	C0005586	Bipolar Disorder	1	CTD_human
MRPS33	C0005587	Depression, Bipolar	1	CTD_human
MRPS33	C0024713	Manic Disorder	1	CTD_human
MRPS33	C0338831	Manic	1	CTD_human
PUS7	C0013336	Dwarfism	1	GENOMICS_ENGLAND
PUS7	C0025958	Microcephaly	1	GENOMICS_ENGLAND
GTPBP2	C0008370	Cholestasis	1	CTD_human
GTPBP2	C0557874	Global developmental delay	1	GENOMICS_ENGLAND
GTPBP2	C4693848	JABERI-ELAHI SYNDROME	1	GENOMICS_ENGLAND
CDKAL1	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	3	CTD_human
CDKAL1	C0263859	Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome	1	CTD_human
TRMT10C	C4310773	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30	1	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
SARS2	C3151209	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	3	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
RMND1	C0006142	Malignant neoplasm of breast	1	CTD_human
RMND1	C0678222	Breast Carcinoma	1	CTD_human
RMND1	C1257931	Mammary Neoplasms, Human	1	CTD_human
RMND1	C3554067	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11	6	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
RMND1	C4704874	Mammary Carcinoma, Human	1	CTD_human
BANK1	C0024141	Lupus Erythematosus, Systemic	6	CTD_human;ORPHANET
BANK1	C0242380	Libman-Sacks Disease	1	CTD_human
PTCD3	C0023264	Leigh Disease	3	CLINGEN
PTCD3	C1838951	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	3	CLINGEN
PTCD3	C1850597	Leigh Syndrome Due To Mitochondrial Complex II Deficiency	3	CLINGEN
PTCD3	C1850598	Leigh Syndrome due to Mitochondrial Complex III Deficiency	3	CLINGEN
PTCD3	C1850599	Leigh Syndrome due to Mitochondrial Complex IV Deficiency	3	CLINGEN
PTCD3	C1850600	Leigh Syndrome due to Mitochondrial Complex V Deficiency	3	CLINGEN
PTCD3	C2931891	Necrotizing encephalopathy, infantile subacute, of Leigh	3	CLINGEN
PIWIL2	C0007570	Celiac Disease	1	CTD_human
DARS2	C1970180	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	6	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
QRSL1	C3532239	Mitochondrial cardiomyopathy	1	GENOMICS_ENGLAND
IMPACT	C0005586	Bipolar Disorder	1	PSYGENET
IMPACT	C1839839	MAJOR AFFECTIVE DISORDER 2	1	PSYGENET
IARS2	C0010093	Corpus Luteum Cyst	1	CTD_human
IARS2	C0023264	Leigh Disease	4	CLINGEN
IARS2	C0029927	Ovarian Cysts	1	CTD_human
IARS2	C1838951	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	4	CLINGEN
IARS2	C1850597	Leigh Syndrome Due To Mitochondrial Complex II Deficiency	4	CLINGEN
IARS2	C1850598	Leigh Syndrome due to Mitochondrial Complex III Deficiency	4	CLINGEN
IARS2	C1850599	Leigh Syndrome due to Mitochondrial Complex IV Deficiency	4	CLINGEN
IARS2	C1850600	Leigh Syndrome due to Mitochondrial Complex V Deficiency	4	CLINGEN
IARS2	C2931891	Necrotizing encephalopathy, infantile subacute, of Leigh	4	CLINGEN
IARS2	C4014942	CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA	5	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
EIF4ENIF1	C0085215	Ovarian Failure, Premature	1	GENOMICS_ENGLAND
INPP5E	C0020796	Profound Mental Retardation	1	CTD_human
INPP5E	C0028754	Obesity	1	CTD_human
INPP5E	C0431399	Familial aplasia of the vermis	4	CTD_human;GENOMICS_ENGLAND;ORPHANET
INPP5E	C0917816	Mental deficiency	1	CTD_human
INPP5E	C1857662	COACH syndrome	1	ORPHANET
INPP5E	C1857802	MORM syndrome	4	CTD_human;GENOMICS_ENGLAND;ORPHANET
INPP5E	C4274118	Joubert syndrome with ocular defect	2	ORPHANET
INPP5E	C4551568	Joubert syndrome 1	7	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
INPP5E	C4551720	Primary Ciliary Dyskinesia	2	CTD_human
RARS2	C0014544	Epilepsy	1	GENOMICS_ENGLAND
RARS2	C0266468	Congenital pontocerebellar hypoplasia	1	GENOMICS_ENGLAND
RARS2	C1843504	Pontocerebellar Hypoplasia Type 1	1	ORPHANET
RARS2	C1969084	Pontocerebellar Hypoplasia Type 6	4	CTD_human;GENOMICS_ENGLAND;ORPHANET
VARS2	C4014660	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20	2	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
AARS2	C1847967	OVARIOLEUKODYSTROPHY	1	ORPHANET
AARS2	C3279793	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8	3	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
AARS2	C3711381	Hereditary Diffuse Leukoencephalopathy with Spheroids	1	ORPHANET
AARS2	C4014588	LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE	2	CTD_human;GENOMICS_ENGLAND;UNIPROT
GUF1	C0037769	West Syndrome	1	ORPHANET
GUF1	C4310737	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40	1	CTD_human;GENOMICS_ENGLAND;UNIPROT
EEFSEC	C0024117	Chronic Obstructive Airway Disease	1	CTD_human
EEFSEC	C1527303	Chronic Airflow Obstruction	1	CTD_human
DNAJC1	C0025202	melanoma	1	CTD_human
CPEB1	C0023434	Chronic Lymphocytic Leukemia	1	CTD_human
MRPS11	C0024623	Malignant neoplasm of stomach	1	CTD_human
MRPS11	C1708349	Hereditary Diffuse Gastric Cancer	1	CTD_human
MRPS6	C0010054	Coronary Arteriosclerosis	1	CTD_human
MRPS6	C1956346	Coronary Artery Disease	1	CTD_human
MRPS5	C0152013	Adenocarcinoma of lung (disorder)	1	CTD_human
MRPL9	C0006142	Malignant neoplasm of breast	1	CTD_human
MRPL9	C0678222	Breast Carcinoma	1	CTD_human
MRPL9	C1257931	Mammary Neoplasms, Human	1	CTD_human
MRPL9	C4704874	Mammary Carcinoma, Human	1	CTD_human
PINK1	C0027819	Neuroblastoma	1	CTD_human
PINK1	C0030567	Parkinson Disease	5	CTD_human
PINK1	C0036341	Schizophrenia	3	PSYGENET
PINK1	C0041696	Unipolar Depression	1	PSYGENET
PINK1	C0242423	Ramsay Hunt Paralysis Syndrome	6	CTD_human
PINK1	C0752097	Autosomal Dominant Juvenile Parkinson Disease	6	CTD_human
PINK1	C0752098	Autosomal Dominant Parkinsonism	6	CTD_human
PINK1	C0752100	Autosomal Recessive Parkinsonism	6	CTD_human
PINK1	C0752101	Parkinsonism, Experimental	6	CTD_human
PINK1	C0752104	Familial Juvenile Parkinsonism	6	CTD_human
PINK1	C0752105	Parkinsonism, Juvenile	6	CTD_human
PINK1	C1269683	Major Depressive Disorder	1	PSYGENET
PINK1	C1853833	Parkinson Disease 6, Autosomal Recessive Early-Onset	27	CTD_human;GENOMICS_ENGLAND;UNIPROT
PINK1	C1868675	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	6	CTD_human
MRPL44	C3809339	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16	1	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
UPF3B	C0796022	Lujan Fryns syndrome	1	ORPHANET
UPF3B	C1136249	Mental Retardation, X-Linked	1	CTD_human;GENOMICS_ENGLAND
UPF3B	C1970822	Mental Retardation, X-Linked, Syndromic 14	1	CTD_human;GENOMICS_ENGLAND;UNIPROT
UPF3B	C2931498	Mental Retardation, X-Linked 1	2	ORPHANET
MRPS34	C4540029	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32	1	GENOMICS_ENGLAND;UNIPROT
BOLL	C0009402	Colorectal Carcinoma	1	CTD_human
SECISBP2	C0750905	Amino Acid Metabolism, Inherited Disorders	1	CTD_human
SECISBP2	C1864761	Thyroid Hormone Metabolism, Abnormal	3	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
FTO	C0001973	Alcoholic Intoxication, Chronic	3	PSYGENET
FTO	C0006142	Malignant neoplasm of breast	1	CTD_human
FTO	C0011570	Mental Depression	2	PSYGENET
FTO	C0011581	Depressive disorder	3	PSYGENET
FTO	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	1	CTD_human
FTO	C0025202	melanoma	1	CTD_human
FTO	C0028754	Obesity	6	CTD_human
FTO	C0678222	Breast Carcinoma	1	CTD_human
FTO	C1257931	Mammary Neoplasms, Human	1	CTD_human
FTO	C2362324	Pediatric Obesity	1	CTD_human
FTO	C2752001	Growth Retardation, Developmental Delay, Coarse Facies, And Early Death	4	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
FTO	C4704874	Mammary Carcinoma, Human	1	CTD_human
CARS2	C4225251	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27	3	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
EFL1	C0272170	Shwachman syndrome	1	ORPHANET
EFL1	C4693704	SHWACHMAN-DIAMOND SYNDROME 2	2	GENOMICS_ENGLAND;UNIPROT
NARS2	C0023264	Leigh Disease	2	CLINGEN
NARS2	C1838951	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	2	CLINGEN
NARS2	C1850597	Leigh Syndrome Due To Mitochondrial Complex II Deficiency	2	CLINGEN
NARS2	C1850598	Leigh Syndrome due to Mitochondrial Complex III Deficiency	2	CLINGEN
NARS2	C1850599	Leigh Syndrome due to Mitochondrial Complex IV Deficiency	2	CLINGEN
NARS2	C1850600	Leigh Syndrome due to Mitochondrial Complex V Deficiency	2	CLINGEN
NARS2	C2931891	Necrotizing encephalopathy, infantile subacute, of Leigh	2	CLINGEN
NARS2	C3711374	Nonsyndromic Deafness	1	CLINGEN
NARS2	C4015643	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24	3	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TARS2	C4014668	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21	2	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
SESN2	C0009402	Colorectal Carcinoma	1	CTD_human
SESN2	C0019193	Hepatitis, Toxic	1	CTD_human
SESN2	C1262760	Hepatitis, Drug-Induced	1	CTD_human
SESN2	C3658290	Drug-Induced Acute Liver Injury	1	CTD_human
SESN2	C4277682	Chemical and Drug Induced Liver Injury	1	CTD_human
SESN2	C4279912	Chemically-Induced Liver Toxicity	1	CTD_human
EIF2A	C0014544	Epilepsy	1	GENOMICS_ENGLAND
EIF2A	C0035126	Reperfusion Injury	1	CTD_human
EIF2A	C0151744	Myocardial Ischemia	1	CTD_human
EIF1AD	C0025202	melanoma	1	CTD_human
UQCC2	C4014408	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7	1	GENOMICS_ENGLAND
GFM2	C0003886	Arthrogryposis	1	GENOMICS_ENGLAND
GFM2	C0023264	Leigh Disease	4	CLINGEN
GFM2	C1838951	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	4	CLINGEN
GFM2	C1850597	Leigh Syndrome Due To Mitochondrial Complex II Deficiency	4	CLINGEN
GFM2	C1850598	Leigh Syndrome due to Mitochondrial Complex III Deficiency	4	CLINGEN
GFM2	C1850599	Leigh Syndrome due to Mitochondrial Complex IV Deficiency	4	CLINGEN
GFM2	C1850600	Leigh Syndrome due to Mitochondrial Complex V Deficiency	4	CLINGEN
GFM2	C2931891	Necrotizing encephalopathy, infantile subacute, of Leigh	4	CLINGEN
PPP1R15B	C4225195	MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2	3	CTD_human;GENOMICS_ENGLAND;UNIPROT
GFM1	C0023264	Leigh Disease	6	CLINGEN
GFM1	C1836797	Combined Oxidative Phosphorylation Deficiency 1	7	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
GFM1	C1838951	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	6	CLINGEN
GFM1	C1850597	Leigh Syndrome Due To Mitochondrial Complex II Deficiency	6	CLINGEN
GFM1	C1850598	Leigh Syndrome due to Mitochondrial Complex III Deficiency	6	CLINGEN
GFM1	C1850599	Leigh Syndrome due to Mitochondrial Complex IV Deficiency	6	CLINGEN
GFM1	C1850600	Leigh Syndrome due to Mitochondrial Complex V Deficiency	6	CLINGEN
GFM1	C2931891	Necrotizing encephalopathy, infantile subacute, of Leigh	6	CLINGEN
PNPT1	C0557874	Global developmental delay	1	GENOMICS_ENGLAND
PNPT1	C1824925	DEAFNESS, AUTOSOMAL RECESSIVE 70	4	CTD_human;GENOMICS_ENGLAND;UNIPROT
PNPT1	C1846647	DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	1	CLINGEN
PNPT1	C2239176	Liver carcinoma	1	CTD_human
PNPT1	C3554129	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13	4	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
MARS2	C1969645	Ataxia, Spastic, 3, Autosomal Recessive	4	CTD_human;GENOMICS_ENGLAND;ORPHANET
MARS2	C4225329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25	1	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
LARP4	C0032460	Polycystic Ovary Syndrome	1	CTD_human
LARP4	C1136382	Sclerocystic Ovaries	1	CTD_human
NIBAN1	C0008370	Cholestasis	1	CTD_human
MTFMT	C3554182	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15	5	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
MTFMT	C4748826	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27	3	GENOMICS_ENGLAND;UNIPROT
EARS2	C0014544	Epilepsy	1	GENOMICS_ENGLAND
EARS2	C3554079	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12	6	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
UHMK1	C0036341	Schizophrenia	4	PSYGENET
DIS3L2	C0796113	Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor	6	CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
MTPN	C0019193	Hepatitis, Toxic	1	CTD_human
MTPN	C1262760	Hepatitis, Drug-Induced	1	CTD_human
MTPN	C3658290	Drug-Induced Acute Liver Injury	1	CTD_human
MTPN	C4277682	Chemical and Drug Induced Liver Injury	1	CTD_human
MTPN	C4279912	Chemically-Induced Liver Toxicity	1	CTD_human
PIWIL4	C0028960	Oligospermia	1	CTD_human
RC3H1	C0024291	Lymphohistiocytosis, Hemophagocytic	1	GENOMICS_ENGLAND
PATL2	C4540284	OOCYTE MATURATION DEFECT 4	2	UNIPROT
EIF4E3	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
NANOS1	C0345967	Malignant mesothelioma	1	CTD_human
NANOS1	C4706677	Male infertility with teratozoospermia due to single gene mutation	1	ORPHANET
NANOS3	C0085215	Ovarian Failure, Premature	1	GENOMICS_ENGLAND
PADI6	C4310659	PREIMPLANTATION EMBRYONIC LETHALITY 2	1	CTD_human;UNIPROT
EIF2AK4	C0034091	Pulmonary Veno-Occlusive Disease (disorder)	2	CTD_human;GENOMICS_ENGLAND;ORPHANET
EIF2AK4	C0152171	Idiopathic pulmonary hypertension	1	GENOMICS_ENGLAND
EIF2AK4	C0340543	Familial primary pulmonary hypertension	2	GENOMICS_ENGLAND;ORPHANET
EIF2AK4	C0340548	Pulmonary capillary hemangiomatosis	2	GENOMICS_ENGLAND;ORPHANET
EIF2AK4	C0340848	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE	3	GENOMICS_ENGLAND;UNIPROT
EIF2AK4	C0750905	Amino Acid Metabolism, Inherited Disorders	1	CTD_human
EIF2AK4	C1701939	Familial pulmonary arterial hypertension	1	ORPHANET
EIF2AK4	C2973725	Pulmonary arterial hypertension	1	GENOMICS_ENGLAND
EIF2AK4	C3203102	Idiopathic pulmonary arterial hypertension	1	GENOMICS_ENGLAND
PIWIL3	C0028960	Oligospermia	1	CTD_human