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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:APOE-ARFGEF2 (FusionGDB2 ID:HG348TG10564)

Fusion Gene Summary for APOE-ARFGEF2

check button Fusion gene summary
Fusion gene informationFusion gene name: APOE-ARFGEF2
Fusion gene ID: hg348tg10564
HgeneTgene
Gene symbol

APOE

ARFGEF2

Gene ID

348

10564

Gene nameapolipoprotein EADP ribosylation factor guanine nucleotide exchange factor 2
SynonymsAD2|APO-E|ApoE4|LDLCQ5|LPGBIG2|PVNH2|dJ1164I10.1
Cytomap('APOE')('ARFGEF2')

19q13.32

20q13.13

Type of geneprotein-codingprotein-coding
Descriptionapolipoprotein Eapolipoprotein E3brefeldin A-inhibited guanine nucleotide-exchange protein 2ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)brefeldin A-inhibited GEP 2
Modification date2020032920200313
UniProtAcc

P02649

.
Ensembl transtripts involved in fusion geneENST00000252486, 
Fusion gene scores* DoF score9 X 3 X 6=16242 X 12 X 16=8064
# samples 944
** MAII scorelog2(9/162*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(44/8064*10)=-4.19592020997526
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: APOE [Title/Abstract] AND ARFGEF2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAPOE(45412650)-ARFGEF2(47615777), # 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneAPOE

GO:0001937

negative regulation of endothelial cell proliferation

9685360

HgeneAPOE

GO:0006641

triglyceride metabolic process

9649566

HgeneAPOE

GO:0006898

receptor-mediated endocytosis

1917954

HgeneAPOE

GO:0007186

G protein-coupled receptor signaling pathway

16443932

HgeneAPOE

GO:0007263

nitric oxide mediated signal transduction

8995232

HgeneAPOE

GO:0008203

cholesterol metabolic process

9649566

HgeneAPOE

GO:0010544

negative regulation of platelet activation

8995232

HgeneAPOE

GO:0010873

positive regulation of cholesterol esterification

15654758

HgeneAPOE

GO:0010875

positive regulation of cholesterol efflux

12042316|14754908

HgeneAPOE

GO:0010976

positive regulation of neuron projection development

7592957|23845000

HgeneAPOE

GO:0010977

negative regulation of neuron projection development

7592957

HgeneAPOE

GO:0015909

long-chain fatty acid transport

24345162

HgeneAPOE

GO:0017038

protein import

24446231

HgeneAPOE

GO:0019934

cGMP-mediated signaling

8995232

HgeneAPOE

GO:0030195

negative regulation of blood coagulation

8995232

HgeneAPOE

GO:0031175

neuron projection development

8939961

HgeneAPOE

GO:0032489

regulation of Cdc42 protein signal transduction

16443932

HgeneAPOE

GO:0032805

positive regulation of low-density lipoprotein particle receptor catabolic process

15950758

HgeneAPOE

GO:0033344

cholesterol efflux

11162594|16443932|23620513

HgeneAPOE

GO:0033700

phospholipid efflux

11162594

HgeneAPOE

GO:0034372

very-low-density lipoprotein particle remodeling

15654758

HgeneAPOE

GO:0034380

high-density lipoprotein particle assembly

14754908|17305370

HgeneAPOE

GO:0034382

chylomicron remnant clearance

1911868

HgeneAPOE

GO:0034384

high-density lipoprotein particle clearance

210175

HgeneAPOE

GO:0034447

very-low-density lipoprotein particle clearance

1917954|2762297

HgeneAPOE

GO:0042158

lipoprotein biosynthetic process

23620513

HgeneAPOE

GO:0042632

cholesterol homeostasis

9649566

HgeneAPOE

GO:0042982

amyloid precursor protein metabolic process

21593558

HgeneAPOE

GO:0043254

regulation of protein complex assembly

25207746

HgeneAPOE

GO:0043407

negative regulation of MAP kinase activity

9685360

HgeneAPOE

GO:0043537

negative regulation of blood vessel endothelial cell migration

9685360

HgeneAPOE

GO:0043691

reverse cholesterol transport

8127890

HgeneAPOE

GO:0045541

negative regulation of cholesterol biosynthetic process

1917954

HgeneAPOE

GO:0045807

positive regulation of endocytosis

7683668|8300609

HgeneAPOE

GO:0046889

positive regulation of lipid biosynthetic process

12042316

HgeneAPOE

GO:0051000

positive regulation of nitric-oxide synthase activity

8995232

HgeneAPOE

GO:0051044

positive regulation of membrane protein ectodomain proteolysis

15950758

HgeneAPOE

GO:0055089

fatty acid homeostasis

24345162

HgeneAPOE

GO:0060999

positive regulation of dendritic spine development

24328732

HgeneAPOE

GO:0071831

intermediate-density lipoprotein particle clearance

1917954

HgeneAPOE

GO:0090090

negative regulation of canonical Wnt signaling pathway

16805831

HgeneAPOE

GO:0097113

AMPA glutamate receptor clustering

24328732

HgeneAPOE

GO:0097114

NMDA glutamate receptor clustering

24328732

HgeneAPOE

GO:1900221

regulation of amyloid-beta clearance

24446231

HgeneAPOE

GO:1900272

negative regulation of long-term synaptic potentiation

16273551

HgeneAPOE

GO:1902430

negative regulation of amyloid-beta formation

24154541

HgeneAPOE

GO:1902952

positive regulation of dendritic spine maintenance

24328732

HgeneAPOE

GO:1902991

regulation of amyloid precursor protein catabolic process

28164773

HgeneAPOE

GO:1902995

positive regulation of phospholipid efflux

12042316

HgeneAPOE

GO:1903002

positive regulation of lipid transport across blood brain barrier

24345162

HgeneAPOE

GO:1905855

positive regulation of heparan sulfate binding

7683668

HgeneAPOE

GO:1905860

positive regulation of heparan sulfate proteoglycan binding

8300609

HgeneAPOE

GO:1905890

regulation of cellular response to very-low-density lipoprotein particle stimulus

7592957

HgeneAPOE

GO:1905906

regulation of amyloid fibril formation

25207746

TgeneARFGEF2

GO:0001881

receptor recycling

16477018

TgeneARFGEF2

GO:0035556

intracellular signal transduction

12571360



check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4LIHCTCGA-G3-A25U-01AAPOEchr19

45412650

-ARFGEF2chr20

47615777

+


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Fusion Gene ORF analysis for APOE-ARFGEF2

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-intronENST00000252486ENST00000371917APOEchr19

45412650

-ARFGEF2chr20

47615777

+
5CDS-intronENST00000252486ENST00000493140APOEchr19

45412650

-ARFGEF2chr20

47615777

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for APOE-ARFGEF2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for APOE-ARFGEF2


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:45412650/:47615777)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
APOE

P02649

.
FUNCTION: APOE is an apolipoprotein, a protein associating with lipid particles, that mainly functions in lipoprotein-mediated lipid transport between organs via the plasma and interstitial fluids (PubMed:6860692, PubMed:1911868, PubMed:14754908). APOE is a core component of plasma lipoproteins and is involved in their production, conversion and clearance (PubMed:6860692, PubMed:2762297, PubMed:1911868, PubMed:1917954, PubMed:9395455, PubMed:14754908, PubMed:23620513). Apoliproteins are amphipathic molecules that interact both with lipids of the lipoprotein particle core and the aqueous environment of the plasma (PubMed:6860692, PubMed:2762297, PubMed:9395455). As such, APOE associates with chylomicrons, chylomicron remnants, very low density lipoproteins (VLDL) and intermediate density lipoproteins (IDL) but shows a preferential binding to high-density lipoproteins (HDL) (PubMed:6860692, PubMed:1911868). It also binds a wide range of cellular receptors including the LDL receptor/LDLR, the LDL receptor-related proteins LRP1, LRP2 and LRP8 and the very low-density lipoprotein receptor/VLDLR that mediate the cellular uptake of the APOE-containing lipoprotein particles (PubMed:2762297, PubMed:1917954, PubMed:7768901, PubMed:8939961, PubMed:12950167, PubMed:20030366, PubMed:2063194, PubMed:8756331, PubMed:20303980, PubMed:1530612, PubMed:7635945). Finally, APOE has also a heparin-binding activity and binds heparan-sulfate proteoglycans on the surface of cells, a property that supports the capture and the receptor-mediated uptake of APOE-containing lipoproteins by cells (PubMed:9395455, PubMed:9488694, PubMed:23676495, PubMed:7635945). A main function of APOE is to mediate lipoprotein clearance through the uptake of chylomicrons, VLDLs, and HDLs by hepatocytes (PubMed:1911868, PubMed:1917954, PubMed:9395455, PubMed:23676495, PubMed:29516132). APOE is also involved in the biosynthesis by the liver of VLDLs as well as their uptake by peripheral tissues ensuring the delivery of triglycerides and energy storage in muscle, heart and adipose tissues (PubMed:2762297, PubMed:29516132). By participating in the lipoprotein-mediated distribution of lipids among tissues, APOE plays a critical role in plasma and tissues lipid homeostasis (PubMed:2762297, PubMed:1917954, PubMed:29516132). APOE is also involved in two steps of reverse cholesterol transport, the HDLs-mediated transport of cholesterol from peripheral tissues to the liver, and thereby plays an important role in cholesterol homeostasis (PubMed:9395455, PubMed:14754908, PubMed:23620513). First, it is functionally associated with ABCA1 in the biogenesis of HDLs in tissues (PubMed:14754908, PubMed:23620513). Second, it is enriched in circulating HDLs and mediates their uptake by hepatocytes (PubMed:9395455). APOE also plays an important role in lipid transport in the central nervous system, regulating neuron survival and sprouting (PubMed:8939961, PubMed:25173806). APOE in also involved in innate and adaptive immune responses, controlling for instance the survival of myeloid-derived suppressor cells (By similarity). APOE, may also play a role in transcription regulation through a receptor-dependent and cholesterol-independent mechanism, that activates MAP3K12 and a non-canonical MAPK signal transduction pathway that results in enhanced AP-1-mediated transcription of APP (PubMed:28111074). {ECO:0000250|UniProtKB:P08226, ECO:0000269|PubMed:12950167, ECO:0000269|PubMed:14754908, ECO:0000269|PubMed:1530612, ECO:0000269|PubMed:1911868, ECO:0000269|PubMed:1917954, ECO:0000269|PubMed:20030366, ECO:0000269|PubMed:20303980, ECO:0000269|PubMed:2063194, ECO:0000269|PubMed:23620513, ECO:0000269|PubMed:23676495, ECO:0000269|PubMed:2762297, ECO:0000269|PubMed:28111074, ECO:0000269|PubMed:6860692, ECO:0000269|PubMed:7635945, ECO:0000269|PubMed:7768901, ECO:0000269|PubMed:8756331, ECO:0000269|PubMed:8939961, ECO:0000269|PubMed:9395455, ECO:0000269|PubMed:9488694, ECO:0000303|PubMed:25173806, ECO:0000303|PubMed:29516132}.; FUNCTION: (Microbial infection) Through its interaction with HCV envelope glycoprotein E2, participates in the attachment of HCV to HSPGs and other receptors (LDLr, VLDLr, and SR-B1) on the cell surface and to the assembly, maturation and infectivity of HCV viral particles (PubMed:25122793, PubMed:29695434). This interaction is probably promoted via the up-regulation of cellular autophagy by the virus (PubMed:29695434). {ECO:0000269|PubMed:25122793, ECO:0000269|PubMed:29695434}.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}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for APOE-ARFGEF2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for APOE-ARFGEF2


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for APOE-ARFGEF2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneAPOEP02649DB14548Zinc sulfate, unspecified formAntagonistSmall moleculeApproved|Experimental
HgeneAPOEP02649DB01593ZincSmall moleculeApproved|Investigational
HgeneAPOEP02649DB09130CopperSmall moleculeApproved|Investigational
HgeneAPOEP02649DB14487Zinc acetateSmall moleculeApproved|Investigational
HgeneAPOEP02649DB14533Zinc chlorideAntagonistSmall moleculeApproved|Investigational

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Related Diseases for APOE-ARFGEF2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAPOEC0004153Atherosclerosis29CTD_human
HgeneAPOEC1563937Atherogenesis29CTD_human
HgeneAPOEC0020479Hyperlipoproteinemia Type III16CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneAPOEC0015697Arterial Fatty Streak11CTD_human
HgeneAPOEC0264956Atheroma11CTD_human
HgeneAPOEC1863051ALZHEIMER DISEASE 211CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneAPOEC2936350Plaque, Atherosclerotic11CTD_human
HgeneAPOEC2936351Fibroatheroma11CTD_human
HgeneAPOEC0002395Alzheimer's Disease9CTD_human
HgeneAPOEC0011265Presenile dementia9CTD_human
HgeneAPOEC0276496Familial Alzheimer Disease (FAD)9CTD_human
HgeneAPOEC0494463Alzheimer Disease, Late Onset9CTD_human
HgeneAPOEC0546126Acute Confusional Senile Dementia9CTD_human
HgeneAPOEC0750900Alzheimer's Disease, Focal Onset9CTD_human
HgeneAPOEC0750901Alzheimer Disease, Early Onset9CTD_human
HgeneAPOEC2673196LIPOPROTEIN GLOMERULOPATHY6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneAPOEC0011206Delirium5PSYGENET
HgeneAPOEC0001973Alcoholic Intoxication, Chronic4PSYGENET
HgeneAPOEC0020443Hypercholesterolemia4CTD_human
HgeneAPOEC0020473Hyperlipidemia4CTD_human
HgeneAPOEC0745103Hyperlipoproteinemia Type IIa4CTD_human;UNIPROT
HgeneAPOEC1706412Lipidemias4CTD_human
HgeneAPOEC0003850Arteriosclerosis2CTD_human
HgeneAPOEC0005586Bipolar Disorder2PSYGENET
HgeneAPOEC0020538Hypertensive disease2CTD_human
HgeneAPOEC0024121Lung Neoplasms2CTD_human
HgeneAPOEC0036489Sea-Blue Histiocyte Syndrome2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneAPOEC0242379Malignant neoplasm of lung2CTD_human
HgeneAPOEC0000786Spontaneous abortion1CTD_human
HgeneAPOEC0000822Abortion, Tubal1CTD_human
HgeneAPOEC0001418Adenocarcinoma1CTD_human
HgeneAPOEC0002726Amyloidosis1CTD_human
HgeneAPOEC0007222Cardiovascular Diseases1CTD_human
HgeneAPOEC0007273Carotid Artery Diseases1CTD_human
HgeneAPOEC0007282Carotid Stenosis1CTD_human
HgeneAPOEC0009241Cognition Disorders1CTD_human
HgeneAPOEC0010068Coronary heart disease1CTD_human
HgeneAPOEC0013990Pathological accumulation of air in tissues1CTD_human
HgeneAPOEC0019193Hepatitis, Toxic1CTD_human
HgeneAPOEC0019202Hepatolenticular Degeneration1CTD_human
HgeneAPOEC0020445Hypercholesterolemia, Familial1CTD_human
HgeneAPOEC0022333Jacksonian Seizure1CTD_human
HgeneAPOEC0025427Mercury Poisoning1CTD_human
HgeneAPOEC0026769Multiple Sclerosis1CTD_human
HgeneAPOEC0027051Myocardial Infarction1CTD_human
HgeneAPOEC0027746Nerve Degeneration1CTD_human
HgeneAPOEC0028754Obesity1CTD_human
HgeneAPOEC0030246Pustulosis of Palms and Soles1CTD_human
HgeneAPOEC0033687Proteinuria1CTD_human
HgeneAPOEC0033860Psoriasis1CTD_human
HgeneAPOEC0035078Kidney Failure1CTD_human
HgeneAPOEC0036341Schizophrenia1CTD_human
HgeneAPOEC0036572Seizures1CTD_human
HgeneAPOEC0038002Splenomegaly1CTD_human
HgeneAPOEC0085220Cerebral Amyloid Angiopathy1CTD_human
HgeneAPOEC0085762Alcohol abuse1PSYGENET
HgeneAPOEC0149958Complex partial seizures1CTD_human
HgeneAPOEC0205641Adenocarcinoma, Basal Cell1CTD_human
HgeneAPOEC0205642Adenocarcinoma, Oxyphilic1CTD_human
HgeneAPOEC0205643Carcinoma, Cribriform1CTD_human
HgeneAPOEC0205644Carcinoma, Granular Cell1CTD_human
HgeneAPOEC0205645Adenocarcinoma, Tubular1CTD_human
HgeneAPOEC0234533Generalized seizures1CTD_human
HgeneAPOEC0234535Clonic Seizures1CTD_human
HgeneAPOEC0235874Disease Exacerbation1CTD_human
HgeneAPOEC0242339Dyslipidemias1CTD_human
HgeneAPOEC0242383Age related macular degeneration1CTD_human
HgeneAPOEC0270824Visual seizure1CTD_human
HgeneAPOEC0270844Tonic Seizures1CTD_human
HgeneAPOEC0270846Epileptic drop attack1CTD_human
HgeneAPOEC0338582Sporadic Cerebral Amyloid Angiopathy1CTD_human
HgeneAPOEC0340569Internal Carotid Artery Stenosis1CTD_human
HgeneAPOEC0393664Multiple Sclerosis, Acute Relapsing1CTD_human
HgeneAPOEC0422850Seizures, Somatosensory1CTD_human
HgeneAPOEC0422852Seizures, Auditory1CTD_human
HgeneAPOEC0422853Olfactory seizure1CTD_human
HgeneAPOEC0422854Gustatory seizure1CTD_human
HgeneAPOEC0422855Vertiginous seizure1CTD_human
HgeneAPOEC0494475Tonic - clonic seizures1CTD_human
HgeneAPOEC0577631Carotid Atherosclerosis1CTD_human
HgeneAPOEC0598784Dyslipoproteinemias1CTD_human
HgeneAPOEC0600178External Carotid Artery Diseases1CTD_human
HgeneAPOEC0750986Internal Carotid Artery Diseases1CTD_human
HgeneAPOEC0750987Arterial Diseases, Common Carotid1CTD_human
HgeneAPOEC0751056Non-epileptic convulsion1CTD_human
HgeneAPOEC0751110Single Seizure1CTD_human
HgeneAPOEC0751123Atonic Absence Seizures1CTD_human
HgeneAPOEC0751324Multiple Sclerosis, Acute Fulminating1CTD_human
HgeneAPOEC0751494Convulsive Seizures1CTD_human
HgeneAPOEC0751495Seizures, Focal1CTD_human
HgeneAPOEC0751496Seizures, Sensory1CTD_human
HgeneAPOEC0751633Carotid Artery Plaque1CTD_human
HgeneAPOEC0751634Carotid Ulcer1CTD_human
HgeneAPOEC0751635Common Carotid Artery Stenosis1CTD_human
HgeneAPOEC0751636External Carotid Artery Stenosis1CTD_human
HgeneAPOEC0751967Multiple Sclerosis, Relapsing-Remitting1CTD_human
HgeneAPOEC0860207Drug-Induced Liver Disease1CTD_human
HgeneAPOEC1262760Hepatitis, Drug-Induced1CTD_human
HgeneAPOEC1384666hearing impairment1CTD_human
HgeneAPOEC1527352Hepatic Form of Wilson Disease1CTD_human
HgeneAPOEC1565489Renal Insufficiency1CTD_human
HgeneAPOEC1704417Hyperlipoproteinemia Type IIb1CTD_human
HgeneAPOEC3495874Nonepileptic Seizures1CTD_human
HgeneAPOEC3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneAPOEC3830362Early Pregnancy Loss1CTD_human
HgeneAPOEC4048158Convulsions1CTD_human
HgeneAPOEC4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneAPOEC4279912Chemically-Induced Liver Toxicity1CTD_human
HgeneAPOEC4316903Absence Seizures1CTD_human
HgeneAPOEC4317109Epileptic Seizures1CTD_human
HgeneAPOEC4317123Myoclonic Seizures1CTD_human
HgeneAPOEC4505436Generalized Absence Seizures1CTD_human
HgeneAPOEC4552766Miscarriage1CTD_human
TgeneC1842563Heterotopia, Periventricular, Autosomal Recessive3CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC1868720Periventricular Nodular Heterotopia2GENOMICS_ENGLAND;ORPHANET