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

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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

217

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
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 RCV002509376 RCV004800514 RCV001797788 RCV003235400 RCV004525867 RCV003226423
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 RCV000001785 RCV000001787 RCV000001788 RCV002284301 RCV002309610 RCV002309417 RCV002307005 RCV002310570 RCV000170394 RCV003989821 RCV005871188 RCV005036918 RCV005038562 RCV005040578 RCV004566559 RCV000412151 RCV000449643 RCV000667949 RCV000984170 RCV000674649 RCV000674447 RCV000665092 RCV000670140 RCV000666033 RCV000668715 RCV000674994 RCV000664613 RCV000668687 RCV000666637 RCV000674160 RCV000667609 RCV000668671 RCV000669777 RCV000670075 RCV000666696 RCV000674893 RCV000674856 RCV000670506 RCV000758079 RCV000721935 RCV000790399 RCV001809807 RCV001542580 RCV000664947 RCV005042185 RCV000995540 RCV001542579 RCV001250422 RCV001271099 RCV001264150 RCV001264151 RCV001264271 RCV001264272 RCV001264273 RCV001264274 RCV001264275
ERCC8-related disorder	Likely pathogenic; Pathogenic	rs2112491212, rs530679736	RCV003399385 RCV003394304
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs551105507	RCV005912614
Sarcoma	Pathogenic	rs1554073316	RCV005901514
See cases	Pathogenic	rs121434323	RCV003156146
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 RCV005036918 RCV005038562 RCV005040578 RCV002502427 RCV005034240 RCV005034249 RCV000763546 RCV002477669 RCV005036161 RCV000024268 RCV005031550 RCV005042185 RCV002505567 RCV005038020

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormality of the nervous system	Conflicting classifications of pathogenicity	rs2112522829	RCV001814312
Hereditary breast ovarian cancer syndrome	Conflicting classifications of pathogenicity	rs61754098	RCV001374546

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	37684436
Cardiomyopathy Dilated	Associate	32160415
Cataract	Associate	36454558
Cataract Age Related Nuclear	Stimulate	39209536
Cerebellar Ataxia	Associate	36231052
Chemical and Drug Induced Liver Injury	Associate	35248096
Cockayne Syndrome	Associate	10739753, 11443545, 12732143, 16246722, 16751180, 17055654, 19329487, 20541997, 22466610, 23623389, 24781187, 24874740, 25463447, 26038566, 28333167 View all (26 more)
Colorectal Neoplasms	Associate	33627384
Craniocerebral Trauma	Associate	28562347
Drug Hypersensitivity	Associate	19329487
Gastritis Atrophic	Associate	26130415, 28562347
Hamartoma Syndrome Multiple	Associate	29057985
Heart Diseases	Associate	32160415
Helicobacter Infections	Associate	26130415, 30249552
Hypoxia	Associate	32664519, 35455966
Keratoconus	Associate	36454558
Margins of Excision	Associate	27004399
Microcephaly	Associate	32160415
Neoplasms	Associate	26130415, 34440306
Neurocutaneous Syndromes	Associate	35254895
Neurodegenerative Diseases	Associate	19329487
Osteosarcoma	Associate	34440306
Progeria	Associate	39209536
Progeroid syndrome neonatal	Associate	39209536
Prostatic Neoplasms	Associate	18668526
Protein S Deficiency	Associate	19329487, 22466610, 26038566
Squamous Cell Carcinoma of Head and Neck	Associate	40076972
Stomach Neoplasms	Associate	26130415, 27340861, 28562347, 30249552, 30417012
UV Sensitive Syndrome	Associate	19329487, 26038566, 37688320
Xeroderma Pigmentosum	Associate	12732143

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