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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:ATP7B-PTEN (FusionGDB2 ID:HG540TG5728) |
Fusion Gene Summary for ATP7B-PTEN |
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Fusion gene information | Fusion gene name: ATP7B-PTEN | Fusion gene ID: hg540tg5728 | Hgene | Tgene | Gene symbol | ATP7B | PTEN | Gene ID | 540 | 5728 |
Gene name | ATPase copper transporting beta | phosphatase and tensin homolog | |
Synonyms | PWD|WC1|WD|WND | 10q23del|BZS|CWS1|DEC|GLM2|MHAM|MMAC1|PTEN1|PTENbeta|TEP1 | |
Cytomap | ('ATP7B')('PTEN') 13q14.3 | 10q23.31 | |
Type of gene | protein-coding | protein-coding | |
Description | copper-transporting ATPase 2ATPase, Cu(2+)- transporting, beta polypeptideATPase, Cu++ transporting, beta polypeptideWilson disease-associated proteincopper pump 2copper-transporting protein ATP7B | phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTENMMAC1 phosphatase and tensin homolog deleted on chromosome 10PTENepsilonmitochondrial PTENalphamitochondrial phosphatase and tensin protein alphamutat | |
Modification date | 20200329 | 20200329 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000242839, ENST00000344297, ENST00000400366, ENST00000400370, ENST00000417240, ENST00000418097, ENST00000448424, ENST00000482841, ENST00000542656, | ||
Fusion gene scores | * DoF score | 2 X 3 X 2=12 | 30 X 21 X 10=6300 |
# samples | 3 | 36 | |
** MAII score | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(36/6300*10)=-4.12928301694497 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ATP7B [Title/Abstract] AND PTEN [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ATP7B(52527980)-PTEN(89726133), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ATP7B | GO:0006825 | copper ion transport | 26004889 |
Hgene | ATP7B | GO:0015677 | copper ion import | 16472602 |
Hgene | ATP7B | GO:0046688 | response to copper ion | 15269005|16472602|16939419 |
Hgene | ATP7B | GO:0051208 | sequestering of calcium ion | 16472602 |
Tgene | PTEN | GO:0001933 | negative regulation of protein phosphorylation | 20123964 |
Tgene | PTEN | GO:0006470 | protein dephosphorylation | 9256433 |
Tgene | PTEN | GO:0008285 | negative regulation of cell proliferation | 19057511 |
Tgene | PTEN | GO:0045736 | negative regulation of cyclin-dependent protein serine/threonine kinase activity | 21241890 |
Tgene | PTEN | GO:0046855 | inositol phosphate dephosphorylation | 9593664 |
Tgene | PTEN | GO:0046856 | phosphatidylinositol dephosphorylation | 9593664|9811831 |
Tgene | PTEN | GO:0050821 | protein stabilization | 20123964 |
Tgene | PTEN | GO:0060070 | canonical Wnt signaling pathway | 20123964 |
Tgene | PTEN | GO:1902807 | negative regulation of cell cycle G1/S phase transition | 10918569 |
Tgene | PTEN | GO:1904668 | positive regulation of ubiquitin protein ligase activity | 21241890 |
Tgene | PTEN | GO:2000060 | positive regulation of ubiquitin-dependent protein catabolic process | 21241890 |
Tgene | PTEN | GO:2000134 | negative regulation of G1/S transition of mitotic cell cycle | 21241890 |
![]() * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Fusion Gene ORF analysis for ATP7B-PTEN |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for ATP7B-PTEN |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for ATP7B-PTEN |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:52527980/:89726133) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
. | . |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for ATP7B-PTEN |
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Fusion Gene PPI Analysis for ATP7B-PTEN |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for ATP7B-PTEN |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for ATP7B-PTEN |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ATP7B | C0019202 | Hepatolenticular Degeneration | 136 | CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | ATP7B | C1527352 | Hepatic Form of Wilson Disease | 51 | CTD_human |
Hgene | ATP7B | C0235874 | Disease Exacerbation | 3 | CTD_human |
Hgene | ATP7B | C0007097 | Carcinoma | 2 | CTD_human |
Hgene | ATP7B | C0019158 | Hepatitis | 2 | CTD_human |
Hgene | ATP7B | C0205696 | Anaplastic carcinoma | 2 | CTD_human |
Hgene | ATP7B | C0205697 | Carcinoma, Spindle-Cell | 2 | CTD_human |
Hgene | ATP7B | C0205698 | Undifferentiated carcinoma | 2 | CTD_human |
Hgene | ATP7B | C0205699 | Carcinomatosis | 2 | CTD_human |
Hgene | ATP7B | C0006142 | Malignant neoplasm of breast | 1 | CTD_human |
Hgene | ATP7B | C0009402 | Colorectal Carcinoma | 1 | CTD_human |
Hgene | ATP7B | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
Hgene | ATP7B | C0015695 | Fatty Liver | 1 | CTD_human |
Hgene | ATP7B | C0019207 | Hepatoma, Morris | 1 | CTD_human |
Hgene | ATP7B | C0019208 | Hepatoma, Novikoff | 1 | CTD_human |
Hgene | ATP7B | C0021368 | Inflammation | 1 | CTD_human |
Hgene | ATP7B | C0022665 | Kidney Neoplasm | 1 | CTD_human |
Hgene | ATP7B | C0023890 | Liver Cirrhosis | 1 | CTD_human |
Hgene | ATP7B | C0023895 | Liver diseases | 1 | CTD_human |
Hgene | ATP7B | C0023903 | Liver neoplasms | 1 | CTD_human |
Hgene | ATP7B | C0023904 | Liver Neoplasms, Experimental | 1 | CTD_human |
Hgene | ATP7B | C0026640 | Mouth Neoplasms | 1 | CTD_human |
Hgene | ATP7B | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | ATP7B | C0041696 | Unipolar Depression | 1 | PSYGENET |
Hgene | ATP7B | C0086404 | Experimental Hepatoma | 1 | CTD_human |
Hgene | ATP7B | C0086565 | Liver Dysfunction | 1 | CTD_human |
Hgene | ATP7B | C0153381 | Malignant neoplasm of mouth | 1 | CTD_human |
Hgene | ATP7B | C0162557 | Liver Failure, Acute | 1 | CTD_human |
Hgene | ATP7B | C0239946 | Fibrosis, Liver | 1 | CTD_human |
Hgene | ATP7B | C0242339 | Dyslipidemias | 1 | CTD_human |
Hgene | ATP7B | C0345904 | Malignant neoplasm of liver | 1 | CTD_human |
Hgene | ATP7B | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Hgene | ATP7B | C0598784 | Dyslipoproteinemias | 1 | CTD_human |
Hgene | ATP7B | C0678222 | Breast Carcinoma | 1 | CTD_human |
Hgene | ATP7B | C0740457 | Malignant neoplasm of kidney | 1 | CTD_human |
Hgene | ATP7B | C0919267 | ovarian neoplasm | 1 | CTD_human |
Hgene | ATP7B | C1140680 | Malignant neoplasm of ovary | 1 | CTD_human |
Hgene | ATP7B | C1168401 | Squamous cell carcinoma of the head and neck | 1 | CTD_human |
Hgene | ATP7B | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human |
Hgene | ATP7B | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
Hgene | ATP7B | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Hgene | ATP7B | C2711227 | Steatohepatitis | 1 | CTD_human |
Hgene | ATP7B | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |
Tgene | C0018553 | Hamartoma Syndrome, Multiple | 36 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C1959582 | PTEN Hamartoma Tumor Syndrome | 23 | CLINGEN;CTD_human;GENOMICS_ENGLAND | |
Tgene | C0376358 | Malignant neoplasm of prostate | 18 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0265326 | Bannayan-Riley-Ruvalcaba Syndrome | 16 | CTD_human;GENOMICS_ENGLAND | |
Tgene | C0033578 | Prostatic Neoplasms | 15 | CTD_human | |
Tgene | C0391826 | Lhermitte-Duclos disease | 15 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C0085261 | Proteus Syndrome | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C0376634 | Craniofacial Abnormalities | 6 | CTD_human | |
Tgene | C1854416 | MACROCEPHALY/AUTISM SYNDROME | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0020796 | Profound Mental Retardation | 5 | CTD_human | |
Tgene | C0025202 | melanoma | 5 | CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0025363 | Mental Retardation, Psychosocial | 5 | CTD_human | |
Tgene | C0476089 | Endometrial Carcinoma | 5 | CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0917816 | Mental deficiency | 5 | CTD_human | |
Tgene | C3714756 | Intellectual Disability | 5 | CTD_human | |
Tgene | C0004352 | Autistic Disorder | 4 | CTD_human | |
Tgene | C0006142 | Malignant neoplasm of breast | 4 | CGI;CTD_human;UNIPROT | |
Tgene | C0014170 | Endometrial Neoplasms | 4 | CTD_human | |
Tgene | C0678222 | Breast Carcinoma | 4 | CGI;CTD_human | |
Tgene | C1257931 | Mammary Neoplasms, Human | 4 | CTD_human | |
Tgene | C1458155 | Mammary Neoplasms | 4 | CTD_human | |
Tgene | C1866398 | Proteus-Like Syndrome (disorder) | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C4704874 | Mammary Carcinoma, Human | 4 | CTD_human | |
Tgene | C0008073 | Developmental Disabilities | 3 | CTD_human | |
Tgene | C0085996 | Child Development Deviations | 3 | CTD_human | |
Tgene | C0085997 | Child Development Disorders, Specific | 3 | CTD_human | |
Tgene | C0345893 | Juvenile polyposis syndrome | 3 | ORPHANET | |
Tgene | C1168401 | Squamous cell carcinoma of the head and neck | 3 | CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C1848599 | VACTERL Association With Hydrocephalus | 3 | CTD_human;GENOMICS_ENGLAND | |
Tgene | C0024121 | Lung Neoplasms | 2 | CGI;CTD_human | |
Tgene | C0242379 | Malignant neoplasm of lung | 2 | CGI;CTD_human | |
Tgene | C0282612 | Prostatic Intraepithelial Neoplasias | 2 | CTD_human | |
Tgene | C2751642 | GLIOMA SUSCEPTIBILITY 2 | 2 | GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0000772 | Multiple congenital anomalies | 1 | CTD_human | |
Tgene | C0001418 | Adenocarcinoma | 1 | CTD_human | |
Tgene | C0003081 | Anisometropia | 1 | CTD_human | |
Tgene | C0004096 | Asthma | 1 | CTD_human | |
Tgene | C0004565 | Melanoma, B16 | 1 | CTD_human | |
Tgene | C0007097 | Carcinoma | 1 | CTD_human | |
Tgene | C0007134 | Renal Cell Carcinoma | 1 | CTD_human | |
Tgene | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human | |
Tgene | C0009075 | Melanoma, Cloudman S91 | 1 | CTD_human | |
Tgene | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human | |
Tgene | C0011757 | Developmental Coordination Disorder | 1 | CTD_human | |
Tgene | C0014173 | Endometrial Hyperplasia | 1 | CTD_human | |
Tgene | C0015695 | Fatty Liver | 1 | CTD_human | |
Tgene | C0017638 | Glioma | 1 | CGI;CTD_human;UNIPROT | |
Tgene | C0018598 | Melanoma, Harding-Passey | 1 | CTD_human | |
Tgene | C0018916 | Hemangioma | 1 | CTD_human | |
Tgene | C0020538 | Hypertensive disease | 1 | CTD_human | |
Tgene | C0020564 | Hypertrophy | 1 | CTD_human | |
Tgene | C0021655 | Insulin Resistance | 1 | CTD_human | |
Tgene | C0023012 | Language Delay | 1 | CTD_human | |
Tgene | C0023014 | Language Development Disorders | 1 | CTD_human | |
Tgene | C0023418 | leukemia | 1 | CTD_human | |
Tgene | C0023798 | Lipoma | 1 | CTD_human | |
Tgene | C0023801 | Lipomatosis | 1 | CTD_human | |
Tgene | C0023890 | Liver Cirrhosis | 1 | CTD_human | |
Tgene | C0023976 | Long QT Syndrome | 1 | CTD_human | |
Tgene | C0024299 | Lymphoma | 1 | CTD_human | |
Tgene | C0025205 | Melanoma, Experimental | 1 | CTD_human | |
Tgene | C0025286 | Meningioma | 1 | CTD_human | |
Tgene | C0026613 | Motor Skills Disorders | 1 | CTD_human | |
Tgene | C0027055 | Myocardial Reperfusion Injury | 1 | CTD_human | |
Tgene | C0027626 | Neoplasm Invasiveness | 1 | CTD_human | |
Tgene | C0027627 | Neoplasm Metastasis | 1 | CTD_human | |
Tgene | C0030297 | Pancreatic Neoplasm | 1 | CTD_human | |
Tgene | C0035126 | Reperfusion Injury | 1 | CTD_human | |
Tgene | C0036920 | Sezary Syndrome | 1 | CTD_human | |
Tgene | C0037116 | Silicosis | 1 | CTD_human | |
Tgene | C0037274 | Dermatologic disorders | 1 | CTD_human | |
Tgene | C0149925 | Small cell carcinoma of lung | 1 | CTD_human | |
Tgene | C0152427 | Polydactyly | 1 | CTD_human | |
Tgene | C0175704 | LEOPARD Syndrome | 1 | CTD_human | |
Tgene | C0205641 | Adenocarcinoma, Basal Cell | 1 | CTD_human | |
Tgene | C0205642 | Adenocarcinoma, Oxyphilic | 1 | CTD_human | |
Tgene | C0205643 | Carcinoma, Cribriform | 1 | CTD_human | |
Tgene | C0205644 | Carcinoma, Granular Cell | 1 | CTD_human | |
Tgene | C0205645 | Adenocarcinoma, Tubular | 1 | CTD_human | |
Tgene | C0205696 | Anaplastic carcinoma | 1 | CTD_human | |
Tgene | C0205697 | Carcinoma, Spindle-Cell | 1 | CTD_human | |
Tgene | C0205698 | Undifferentiated carcinoma | 1 | CTD_human | |
Tgene | C0205699 | Carcinomatosis | 1 | CTD_human | |
Tgene | C0205788 | Histiocytoid hemangioma | 1 | CTD_human | |
Tgene | C0205789 | Hemangioma, Intramuscular | 1 | CTD_human | |
Tgene | C0205822 | Hibernoma | 1 | CTD_human | |
Tgene | C0205823 | Pleomorphic Lipoma | 1 | CTD_human | |
Tgene | C0205834 | Meningiomas, Multiple | 1 | CTD_human | |
Tgene | C0206669 | Hepatocellular Adenoma | 1 | CTD_human | |
Tgene | C0206698 | Cholangiocarcinoma | 1 | CTD_human | |
Tgene | C0235874 | Disease Exacerbation | 1 | CTD_human | |
Tgene | C0239946 | Fibrosis, Liver | 1 | CTD_human | |
Tgene | C0241210 | Speech Delay | 1 | CTD_human | |
Tgene | C0259783 | mixed gliomas | 1 | CTD_human | |
Tgene | C0259785 | Malignant Meningioma | 1 | CTD_human | |
Tgene | C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | 1 | CTD_human | |
Tgene | C0280302 | Squamous cell carcinoma of lip | 1 | ORPHANET | |
Tgene | C0280313 | Squamous cell carcinoma of oropharynx | 1 | ORPHANET | |
Tgene | C0280321 | Squamous cell carcinoma of the hypopharynx | 1 | ORPHANET | |
Tgene | C0280324 | Laryngeal Squamous Cell Carcinoma | 1 | ORPHANET | |
Tgene | C0281784 | Benign Meningioma | 1 | CTD_human | |
Tgene | C0334605 | Meningothelial meningioma | 1 | CTD_human | |
Tgene | C0334606 | Fibrous Meningioma | 1 | CTD_human | |
Tgene | C0334607 | Psammomatous Meningioma | 1 | CTD_human | |
Tgene | C0334608 | Angiomatous Meningioma | 1 | CTD_human | |
Tgene | C0334609 | Hemangioblastic Meningioma | 1 | CTD_human | |
Tgene | C0334610 | Hemangiopericytic Meningioma | 1 | CTD_human | |
Tgene | C0334611 | Transitional Meningioma | 1 | CTD_human | |
Tgene | C0345905 | Intrahepatic Cholangiocarcinoma | 1 | CTD_human | |
Tgene | C0346647 | Malignant neoplasm of pancreas | 1 | CTD_human | |
Tgene | C0347515 | Spinal Meningioma | 1 | CTD_human | |
Tgene | C0349578 | Complex Endometrial Hyperplasia | 1 | CTD_human | |
Tgene | C0349579 | Atypical Endometrial Hyperplasia | 1 | CTD_human | |
Tgene | C0349604 | Intracranial Meningioma | 1 | CTD_human | |
Tgene | C0400966 | Non-alcoholic Fatty Liver Disease | 1 | CTD_human | |
Tgene | C0431121 | Clear Cell Meningioma | 1 | CTD_human | |
Tgene | C0454655 | Semantic-Pragmatic Disorder | 1 | CTD_human | |
Tgene | C0456483 | Simple Endometrial Hyperplasia | 1 | CTD_human | |
Tgene | C0457190 | Xanthomatous Meningioma | 1 | CTD_human | |
Tgene | C0555198 | Malignant Glioma | 1 | CTD_human | |
Tgene | C0585362 | Squamous cell carcinoma of mouth | 1 | CGI;ORPHANET | |
Tgene | C0677608 | Chorioangioma | 1 | CTD_human | |
Tgene | C0677776 | Hereditary Breast and Ovarian Cancer Syndrome | 1 | ORPHANET | |
Tgene | C0751257 | Auditory Processing Disorder, Central | 1 | CTD_human | |
Tgene | C0751303 | Cerebral Convexity Meningioma | 1 | CTD_human | |
Tgene | C0751304 | Parasagittal Meningioma | 1 | CTD_human | |
Tgene | C0919267 | ovarian neoplasm | 1 | CGI;CTD_human | |
Tgene | C0920563 | Insulin Sensitivity | 1 | CTD_human | |
Tgene | C1140680 | Malignant neoplasm of ovary | 1 | CGI;CTD_human | |
Tgene | C1176475 | Ductal Carcinoma | 1 | CTD_human | |
Tgene | C1266042 | Chromophobe Renal Cell Carcinoma | 1 | CTD_human | |
Tgene | C1266043 | Sarcomatoid Renal Cell Carcinoma | 1 | CTD_human | |
Tgene | C1266044 | Collecting Duct Carcinoma of the Kidney | 1 | CTD_human | |
Tgene | C1266181 | Dysplastic gangliocytoma of cerebellum (Lhermitte-Duclos) | 1 | ORPHANET | |
Tgene | C1306837 | Papillary Renal Cell Carcinoma | 1 | CTD_human | |
Tgene | C1334261 | Intraorbital Meningioma | 1 | CTD_human | |
Tgene | C1334271 | Intraventricular Meningioma | 1 | CTD_human | |
Tgene | C1335107 | Olfactory Groove Meningioma | 1 | CTD_human | |
Tgene | C1384406 | Secretory meningioma | 1 | CTD_human | |
Tgene | C1384408 | Microcystic meningioma | 1 | CTD_human | |
Tgene | C1527197 | Angioblastic Meningioma | 1 | CTD_human | |
Tgene | C1535926 | Neurodevelopmental Disorders | 1 | CTD_human | |
Tgene | C1565950 | Posterior Fossa Meningioma | 1 | CTD_human | |
Tgene | C1565951 | Sphenoid Wing Meningioma | 1 | CTD_human | |
Tgene | C1835047 | MELANOMA, CUTANEOUS MALIGNANT, 1 | 1 | GENOMICS_ENGLAND | |
Tgene | C1959588 | Angioma | 1 | CTD_human | |
Tgene | C2239176 | Liver carcinoma | 1 | CTD_human | |
Tgene | C2711227 | Steatohepatitis | 1 | CTD_human | |
Tgene | C2931822 | Nasopharyngeal carcinoma | 1 | CTD_human | |
Tgene | C3163622 | Papillary Meningioma | 1 | CTD_human | |
Tgene | C3241937 | Nonalcoholic Steatohepatitis | 1 | CTD_human | |
Tgene | C3489413 | Lipomatosis, Multiple | 1 | CTD_human | |
Tgene | C3551915 | MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO | 1 | GENOMICS_ENGLAND | |
Tgene | C3714976 | ACTIVATED PI3K-DELTA SYNDROME | 1 | ORPHANET | |
Tgene | C3805278 | Extrahepatic Cholangiocarcinoma | 1 | CTD_human | |
Tgene | C4225426 | THYROID CANCER, NONMEDULLARY, 2 | 1 | GENOMICS_ENGLAND | |
Tgene | C4551484 | Leopard Syndrome 1 | 1 | CTD_human |