Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1161
Gene name	ERCC excision repair 8, CSA ubiquitin ligase complex subunit
Gene symbol	ERCC8
Synonyms (NCBI Gene)	CKN1CSAUVSS2
Chromosome	5
Chromosome location	5q12.1
Summary	This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary d

Show/Hide all (30)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61754098	G>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs121434323	G>C,T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs121434325	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs148393161	C>T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs150727525	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs201464610	C>A,T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs281875221	C>A	Pathogenic, not-provided	Missense variant, coding sequence variant, genic downstream transcript variant
rs372237310	T>C	Pathogenic, likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs748379243	T>A,C	Pathogenic	Splice acceptor variant
rs753663016	G>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs770499406	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs786205176	G>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs786205573	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs897535441	C>G,T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1043679457	C>A,G,T	Pathogenic	Intron variant
rs1057520280	C>T	Likely-pathogenic	Splice acceptor variant, intron variant
rs1305258765	C>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1468231556	->A	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1476095782	C>T	Likely-pathogenic	Splice donor variant
rs1482664387	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1554072713	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1554073117	T>A,C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554073175	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1554073177	->TCTCA	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1554073309	A>T	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1554073311	A>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1554073316	C>T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554073420	T>C	Likely-pathogenic	Splice acceptor variant
rs1561502158	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1580007152	C>G	Pathogenic	Intron variant, splice donor variant

146

Show/Hide all (146)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005022	hsa-miR-521	Western blot	18668526
MIRT029207	hsa-miR-26b-5p	Microarray	19088304
MIRT560099	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT560098	hsa-miR-3688-3p	PAR-CLIP	20371350
MIRT560097	hsa-miR-4802-5p	PAR-CLIP	20371350
MIRT560096	hsa-miR-6514-5p	PAR-CLIP	20371350
MIRT560095	hsa-miR-4772-3p	PAR-CLIP	20371350
MIRT560093	hsa-miR-2276-3p	PAR-CLIP	20371350
MIRT560094	hsa-miR-4645-3p	PAR-CLIP	20371350
MIRT560092	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT560091	hsa-miR-6077	PAR-CLIP	20371350
MIRT560090	hsa-miR-4653-3p	PAR-CLIP	20371350
MIRT560089	hsa-miR-544a	PAR-CLIP	20371350
MIRT560088	hsa-miR-6738-3p	PAR-CLIP	20371350
MIRT526876	hsa-miR-3133	PAR-CLIP	22012620
MIRT526875	hsa-miR-186-5p	PAR-CLIP	22012620
MIRT526874	hsa-miR-758-5p	PAR-CLIP	22012620
MIRT526873	hsa-miR-7852-3p	PAR-CLIP	22012620
MIRT526872	hsa-miR-4790-3p	PAR-CLIP	22012620
MIRT526871	hsa-miR-380-5p	PAR-CLIP	22012620
MIRT526870	hsa-miR-563	PAR-CLIP	22012620
MIRT526869	hsa-miR-4789-5p	PAR-CLIP	22012620
MIRT526868	hsa-miR-1261	PAR-CLIP	22012620
MIRT560099	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT560098	hsa-miR-3688-3p	PAR-CLIP	20371350
MIRT560097	hsa-miR-4802-5p	PAR-CLIP	20371350
MIRT560096	hsa-miR-6514-5p	PAR-CLIP	20371350
MIRT560095	hsa-miR-4772-3p	PAR-CLIP	20371350
MIRT560093	hsa-miR-2276-3p	PAR-CLIP	20371350
MIRT560094	hsa-miR-4645-3p	PAR-CLIP	20371350
MIRT560092	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT560091	hsa-miR-6077	PAR-CLIP	20371350
MIRT560090	hsa-miR-4653-3p	PAR-CLIP	20371350
MIRT560089	hsa-miR-544a	PAR-CLIP	20371350
MIRT560088	hsa-miR-6738-3p	PAR-CLIP	20371350
MIRT526876	hsa-miR-3133	PAR-CLIP	22012620
MIRT526875	hsa-miR-186-5p	PAR-CLIP	22012620
MIRT526874	hsa-miR-758-5p	PAR-CLIP	22012620
MIRT526873	hsa-miR-7852-3p	PAR-CLIP	22012620
MIRT526872	hsa-miR-4790-3p	PAR-CLIP	22012620
MIRT526871	hsa-miR-380-5p	PAR-CLIP	22012620
MIRT526870	hsa-miR-563	PAR-CLIP	22012620
MIRT526869	hsa-miR-4789-5p	PAR-CLIP	22012620
MIRT526868	hsa-miR-1261	PAR-CLIP	22012620
MIRT968594	hsa-miR-1273e	CLIP-seq
MIRT968595	hsa-miR-133a	CLIP-seq
MIRT968596	hsa-miR-133b	CLIP-seq
MIRT968597	hsa-miR-1827	CLIP-seq
MIRT968598	hsa-miR-27a	CLIP-seq
MIRT968599	hsa-miR-27b	CLIP-seq
MIRT968600	hsa-miR-3120-3p	CLIP-seq
MIRT968601	hsa-miR-3145-3p	CLIP-seq
MIRT968602	hsa-miR-3929	CLIP-seq
MIRT968603	hsa-miR-4310	CLIP-seq
MIRT968604	hsa-miR-4419b	CLIP-seq
MIRT968605	hsa-miR-4452	CLIP-seq
MIRT968606	hsa-miR-4478	CLIP-seq
MIRT968607	hsa-miR-4503	CLIP-seq
MIRT968608	hsa-miR-4690-5p	CLIP-seq
MIRT968609	hsa-miR-513a-5p	CLIP-seq
MIRT968610	hsa-miR-544	CLIP-seq
MIRT968611	hsa-miR-556-3p	CLIP-seq
MIRT968612	hsa-miR-940	CLIP-seq
MIRT968600	hsa-miR-3120-3p	CLIP-seq
MIRT2221494	hsa-miR-3938	CLIP-seq
MIRT2525070	hsa-let-7a	CLIP-seq
MIRT2525071	hsa-let-7b	CLIP-seq
MIRT2525072	hsa-let-7c	CLIP-seq
MIRT2525073	hsa-let-7d	CLIP-seq
MIRT2525074	hsa-let-7e	CLIP-seq
MIRT2525075	hsa-let-7f	CLIP-seq
MIRT2525076	hsa-let-7g	CLIP-seq
MIRT2525077	hsa-let-7i	CLIP-seq
MIRT2525078	hsa-miR-1183	CLIP-seq
MIRT2525079	hsa-miR-1290	CLIP-seq
MIRT2525080	hsa-miR-1915	CLIP-seq
MIRT2525081	hsa-miR-1972	CLIP-seq
MIRT2525082	hsa-miR-202	CLIP-seq
MIRT2525083	hsa-miR-217	CLIP-seq
MIRT2525084	hsa-miR-3137	CLIP-seq
MIRT2525085	hsa-miR-3152-3p	CLIP-seq
MIRT2525086	hsa-miR-3158-3p	CLIP-seq
MIRT2525087	hsa-miR-3163	CLIP-seq
MIRT2525088	hsa-miR-3192	CLIP-seq
MIRT2525089	hsa-miR-3616-3p	CLIP-seq
MIRT2525090	hsa-miR-3672	CLIP-seq
MIRT2525091	hsa-miR-3908	CLIP-seq
MIRT2525092	hsa-miR-3942-5p	CLIP-seq
MIRT2525093	hsa-miR-3974	CLIP-seq
MIRT2525094	hsa-miR-4314	CLIP-seq
MIRT2525095	hsa-miR-4422	CLIP-seq
MIRT2525096	hsa-miR-4458	CLIP-seq
MIRT2525097	hsa-miR-4500	CLIP-seq
MIRT2525098	hsa-miR-450b-3p	CLIP-seq
MIRT2525099	hsa-miR-4646-5p	CLIP-seq
MIRT2525100	hsa-miR-4668-3p	CLIP-seq
MIRT2525101	hsa-miR-4686	CLIP-seq
MIRT2525102	hsa-miR-4703-5p	CLIP-seq
MIRT2525103	hsa-miR-4713-3p	CLIP-seq
MIRT2525104	hsa-miR-4717-5p	CLIP-seq
MIRT2525105	hsa-miR-4721	CLIP-seq
MIRT2525106	hsa-miR-4726-3p	CLIP-seq
MIRT2525107	hsa-miR-4766-3p	CLIP-seq
MIRT2525108	hsa-miR-493	CLIP-seq
MIRT2525109	hsa-miR-5096	CLIP-seq
MIRT2525110	hsa-miR-581	CLIP-seq
MIRT2525111	hsa-miR-638	CLIP-seq
MIRT2525112	hsa-miR-769-3p	CLIP-seq
MIRT2525113	hsa-miR-98	CLIP-seq
MIRT2525070	hsa-let-7a	CLIP-seq
MIRT2525071	hsa-let-7b	CLIP-seq
MIRT2525072	hsa-let-7c	CLIP-seq
MIRT2525073	hsa-let-7d	CLIP-seq
MIRT2525074	hsa-let-7e	CLIP-seq
MIRT2525075	hsa-let-7f	CLIP-seq
MIRT2525076	hsa-let-7g	CLIP-seq
MIRT2525077	hsa-let-7i	CLIP-seq
MIRT2525078	hsa-miR-1183	CLIP-seq
MIRT2525079	hsa-miR-1290	CLIP-seq
MIRT2680255	hsa-miR-1914	CLIP-seq
MIRT2525082	hsa-miR-202	CLIP-seq
MIRT2525083	hsa-miR-217	CLIP-seq
MIRT2525084	hsa-miR-3137	CLIP-seq
MIRT2525085	hsa-miR-3152-3p	CLIP-seq
MIRT2525086	hsa-miR-3158-3p	CLIP-seq
MIRT2525087	hsa-miR-3163	CLIP-seq
MIRT2525089	hsa-miR-3616-3p	CLIP-seq
MIRT2525090	hsa-miR-3672	CLIP-seq
MIRT2525091	hsa-miR-3908	CLIP-seq
MIRT2525092	hsa-miR-3942-5p	CLIP-seq
MIRT2525093	hsa-miR-3974	CLIP-seq
MIRT2525095	hsa-miR-4422	CLIP-seq
MIRT2525096	hsa-miR-4458	CLIP-seq
MIRT2525097	hsa-miR-4500	CLIP-seq
MIRT2525100	hsa-miR-4668-3p	CLIP-seq
MIRT2680256	hsa-miR-4679	CLIP-seq
MIRT2525101	hsa-miR-4686	CLIP-seq
MIRT2525102	hsa-miR-4703-5p	CLIP-seq
MIRT2680257	hsa-miR-4719	CLIP-seq
MIRT2525105	hsa-miR-4721	CLIP-seq
MIRT2525107	hsa-miR-4766-3p	CLIP-seq
MIRT2525108	hsa-miR-493	CLIP-seq
MIRT2525109	hsa-miR-5096	CLIP-seq
MIRT2680258	hsa-miR-513b	CLIP-seq
MIRT2525110	hsa-miR-581	CLIP-seq
MIRT2525113	hsa-miR-98	CLIP-seq

Show/Hide all (45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000012	Process	Single strand break repair	IDA	29545921
GO:0000109	Component	Nucleotide-excision repair complex	IBA
GO:0000109	Component	Nucleotide-excision repair complex	IDA	12732143
GO:0000209	Process	Protein polyubiquitination	IBA
GO:0000209	Process	Protein polyubiquitination	IDA	12732143
GO:0005515	Function	Protein binding	IPI	7664335, 10944529, 12732143, 16949367, 22466612, 32814053
GO:0005634	Component	Nucleus	IDA	32355176
GO:0005634	Component	Nucleus	IDA	11782547
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IBA
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IDA	12732143
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IDA	32142649, 32355176, 34526721, 38316879, 38600235
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IEA
GO:0006974	Process	DNA damage response	IDA	11782547
GO:0006974	Process	DNA damage response	IEA
GO:0006979	Process	Response to oxidative stress	IDA	11782547
GO:0006979	Process	Response to oxidative stress	IMP	17297471
GO:0009411	Process	Response to UV	IDA	12732143
GO:0009411	Process	Response to UV	IEA
GO:0009411	Process	Response to UV	IEA
GO:0009411	Process	Response to UV	IMP	7664335
GO:0010165	Process	Response to X-ray	IEA
GO:0010996	Process	Response to auditory stimulus	IEA
GO:0016363	Component	Nuclear matrix	IDA	11782547, 26620705
GO:0016363	Component	Nuclear matrix	IEA
GO:0016567	Process	Protein ubiquitination	IDA	34526721
GO:0016567	Process	Protein ubiquitination	IDA	34526721
GO:0016567	Process	Protein ubiquitination	IEA
GO:0031464	Component	Cul4A-RING E3 ubiquitin ligase complex	IBA
GO:0031464	Component	Cul4A-RING E3 ubiquitin ligase complex	IDA	12732143
GO:0032991	Component	Protein-containing complex	IDA	12732143
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	16751180
GO:0043204	Component	Perikaryon	IEA
GO:0045739	Process	Positive regulation of DNA repair	IMP	7664335
GO:0051865	Process	Protein autoubiquitination	IDA	12732143
GO:0080008	Component	Cul4-RING E3 ubiquitin ligase complex	IDA	32355176, 34526721
GO:0080008	Component	Cul4-RING E3 ubiquitin ligase complex	IMP	16949367
GO:0090262	Process	Regulation of transcription-coupled nucleotide-excision repair	IMP	17297471
GO:0090734	Component	Site of DNA damage	IDA	32355176
GO:0097680	Process	Double-strand break repair via classical nonhomologous end joining	IDA	29545921
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IDA	12732143, 32142649, 34526721, 38316879

MIM	HGNC	e!Ensembl
609412	3439	ENSG00000049167

Q13216

Protein name

DNA excision repair protein ERCC-8 (Cockayne syndrome WD repeat protein CSA)

Protein function

Substrate-recognition component of the CSA complex, a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex, involved in transcription-coupled nucleotide excision repair (TC-NER), a process during which RNA polymerase II-blocking lesions are

PDB

4A11 , 6FCV , 7OO3 , 7OOB , 7OOP , 7OPC , 7OPD , 8B3D , 8B3F , 8B3G , 8B3I , 8QH5 , 9BZ0 , 9ER2 , 9FD2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	85 → 128	WD domain, G-beta repeat	Repeat
PF00400	WD40	176 → 215	WD domain, G-beta repeat	Repeat
PF00400	WD40	222 → 273	WD domain, G-beta repeat	Repeat
PF00400	WD40	324 → 362	WD domain, G-beta repeat	Repeat

Sequence

MLGFLSARQTGLEDPLRLRRAESTRRVLGLELNKDRDVERIHGGGINTLDIEPVEGRYML
SGGSDGVIVLYDLENSSRQSYYTCKAVCSIGRDHPDVHRYSVETVQWYPHDTGMFTSSSF
DKTLKVWDTNTLQTADVFNFEETVYSHHMSPVSTKHCLVAVGTRGPKVQLCDLKSGSCSH
ILQGHRQEILAVSWSPRYDYILATASADSRVKLWDVRRASGCLITLDQHNGKKSQAVESA
NTAHNGKVNGLCFTSDGLHLLTVGTDNRMRLWNSSNGENTLVNYGKVCNNSKKGLKFTVS
CGCSSEFVFVPYGSTIAVYTVYSGEQITMLKGHYKTVDCCVFQSNFQELYSGSRDCNILA
WVPSLYEPVPDDDETTTKSQLNPAFEDAWSSSDEEG

Sequence length

396

Interactions

View interactions

	KEGG		Reactome
	Nucleotide excision repair Ubiquitin mediated proteolysis		Formation of TC-NER Pre-Incision Complex Transcription-Coupled Nucleotide Excision Repair (TC-NER) Dual incision in TC-NER Gap-filling DNA repair synthesis and ligation in TC-NER Neddylation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cockayne syndrome	Likely pathogenic; Pathogenic	rs2112491212, rs1211144774, rs121434323, rs121434325, rs2112522829, rs143367518, rs774047625, rs770499406, rs148393161, rs281875222, rs370657735	RCV003492265 RCV005924207 RCV003330380 RCV005406718 RCV003493354 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cockayne syndrome type 1	Likely pathogenic; Pathogenic	rs1188760861, rs1290416270, rs756880941, rs530679736, rs2112522943, rs121434323, rs121434325, rs121434326, rs2531795499, rs2531795554, rs2531802244, rs2531839441, rs2531795414, rs786205176, rs2531802402 View all (42 more)	RCV005634131 RCV005038206 RCV005038441 RCV005038394 RCV005032005 View all (56 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ERCC8-related disorder	Likely pathogenic; Pathogenic	rs2112491212, rs530679736	RCV003399385 RCV003394304	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs551105507	RCV005912614	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Pathogenic	rs1554073316	RCV005901514	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
UV-sensitive syndrome 2	Likely pathogenic; Pathogenic	rs1290416270, rs756880941, rs530679736, rs2112522943, rs121434326, rs1749497228, rs2531802219, rs1748966825, rs143367518, rs201464610, rs1468231556, rs372237310, rs770499406, rs148393161, rs281875221 View all (4 more)	RCV005038206 RCV005038441 RCV005038394 RCV005032005 RCV005031380 View all (14 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Abnormality of the nervous system	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COCKAYNE SYNDROME A	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COCKAYNE SYNDROME TYPE 2	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COCKAYNE SYNDROME TYPE 3	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COCKAYNE SYNDROME, TYPE I	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COCKAYNE SYNDROME, TYPE II	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 1A	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX I DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UV-SENSITIVE SYNDROME	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (109)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	11898854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anhidrosis	Anhidrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37684436	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	32160415	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	27441470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	BEFREE	30805796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	36454558	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	36231052	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	28381432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	8562412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	10739753, 11898854, 12483520, 14639525, 14726016, 15211661, 15340056, 16246722, 16751180, 17055654, 17084038, 19329487, 19894250, 21108394, 21477668 View all (24 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cockayne Syndrome	Cockayne syndrome	Pubtator	10739753, 11443545, 12732143, 16246722, 16751180, 17055654, 19329487, 20541997, 22466610, 23623389, 24781187, 24874740, 25463447, 26038566, 28333167 View all (26 more)	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cockayne Syndrome	Cockayne Syndrome	LHGDN	16246722, 16751180, 16916636		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cockayne Syndrome	Cockayne Syndrome	CTD_human_DG	22466610, 22466612		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cockayne Syndrome	Cockayne Syndrome	GENOMICS_ENGLAND_DG	25655951		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cockayne syndrome type 1	Cockayne Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cockayne syndrome type 2	Cockayne Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cockayne syndrome type 3	Cockayne Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cockayne Syndrome, Type I	Cockayne Syndrome	BEFREE	14661080, 15744458, 17084038, 17981804, 19309286, 20215648, 26173784, 29057985, 30199453, 30523557, 9312053		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cockayne Syndrome, Type I	Cockayne Syndrome	UNIPROT_DG	14661080, 15744458, 19894250		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cockayne Syndrome, Type I	Cockayne Syndrome	GENOMICS_ENGLAND_DG	15744458, 25655951, 26204423, 7664335		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cockayne Syndrome, Type I	Cockayne Syndrome	CLINVAR_DG	16865293, 19894250, 22829088, 25525159, 26846091, 27004399, 29057985		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cockayne Syndrome, Type I	Cockayne Syndrome	CTD_human_DG	22466610, 22466612		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cockayne Syndrome, Type II	Cockayne Syndrome	BEFREE	15340056, 19309286, 26173784		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cockayne Syndrome, Type II	Cockayne Syndrome	CTD_human_DG	22466610, 22466612		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cockayne Syndrome, Type III	Cockayne Syndrome	CTD_human_DG	22466610, 22466612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33627384	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	30368896		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	BEFREE	28438452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pes cavus	Congenital Pes Cavus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	27441470, 27998040, 28381432, 29102807, 29940592, 30946471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	28562347	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CRANIOSYNOSTOSIS, TYPE 2	Craniosynostosis	BEFREE	15340056, 26173784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30805796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	23311583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	26130415, 28562347	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	26130415, 28562347		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	30620873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	32160415	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	27998040, 28381432, 29102807, 29940592, 30946471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus, Normal Pressure	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	27988429		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of teeth	Hypoplasia of teeth	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	32664519, 35455966	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23311583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	36454558	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	31243735		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	28381432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	23311583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26130415, 28562347, 30249552, 30417012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11713576, 26130415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	32160415	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	8562412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31341899		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	23311583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	27791127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	19329487	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	34440306	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	12483520, 24781187		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18668526	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Aplastic Anemia	Anemia	BEFREE	29724291		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	BEFREE	28381432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	BEFREE	28300569, 30199453, 30523557		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	27998040		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep-Disordered Breathing	Sleep Apnea	BEFREE	28300569, 28371141, 29187390, 30523557		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	40076972	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26130415, 28562347, 30249552, 30417012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach Diseases	BEFREE	28562347		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26130415, 27340861, 28562347, 30249552, 30417012	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
UV-Sensitive Syndrome	UV-Sensitive Syndrome	BEFREE	19329487, 29057985		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UV-Sensitive Syndrome	UV-Sensitive Syndrome	ORPHANET_DG	19329487		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UV-sensitive syndrome	UV-Sensitive Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UV-Sensitive Syndrome	UV-Sensitive Syndrome	GENOMICS_ENGLAND_DG	25655951		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UV-Sensitive Syndrome	UV-Sensitive Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UV-SENSITIVE SYNDROME 2	UV-Sensitive Syndrome	UNIPROT_DG	19329487		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
UV-SENSITIVE SYNDROME 2	UV-Sensitive Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
UV-SENSITIVE SYNDROME 2	UV-Sensitive Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Vesicular Stomatitis	Vesicular Stomatitis	BEFREE	31100416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	12732143	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	16315091, 27507608		★★★★★ ★☆☆☆☆ Found in Text Mining only

ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit)