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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2067
Gene name Gene Name - the full gene name approved by the HGNC.	ERCC excision repair 1, endonuclease non-catalytic subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ERCC1
Synonyms (NCBI Gene) Gene synonyms aliases	COFS4, RAD10, UV20
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19q13.32
Summary Summary of gene provided in NCBI Entrez Gene.	The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer

Show/Hide all(8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs11615	A>G	Drug-response, benign	Synonymous variant, coding sequence variant
rs121913027	G>A	Pathogenic	Coding sequence variant, stop gained
rs121913028	G>A,C	Pathogenic	Coding sequence variant, missense variant, synonymous variant
rs149666093	G>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs150584960	C>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs886039224	T>A	Pathogenic	Coding sequence variant, stop gained
rs1454398092	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1555787722	A>G	Pathogenic	Splice donor variant

Show/Hide all(207)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052171	hsa-let-7b-5p	CLASH	23622248
MIRT038492	hsa-miR-296-3p	CLASH	23622248
MIRT685170	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT685169	hsa-miR-4459	HITS-CLIP	23313552
MIRT685168	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT540593	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT685167	hsa-miR-3190-5p	HITS-CLIP	23313552
MIRT685166	hsa-miR-3926	HITS-CLIP	23313552
MIRT685165	hsa-miR-3606-5p	HITS-CLIP	23313552
MIRT685164	hsa-miR-548s	HITS-CLIP	23313552
MIRT459723	hsa-miR-140-3p	HITS-CLIP	23706177
MIRT459722	hsa-miR-532-3p	HITS-CLIP	23706177
MIRT459721	hsa-miR-188-3p	HITS-CLIP	23706177
MIRT540596	hsa-miR-4432	HITS-CLIP	23706177
MIRT542240	hsa-miR-508-5p	HITS-CLIP	23706177
MIRT540595	hsa-miR-451b	HITS-CLIP	23706177
MIRT540594	hsa-miR-6501-3p	HITS-CLIP	23706177
MIRT540593	hsa-miR-6849-3p	HITS-CLIP	23706177
MIRT540592	hsa-miR-371b-5p	HITS-CLIP	23706177
MIRT540591	hsa-miR-373-5p	HITS-CLIP	23706177
MIRT540590	hsa-miR-616-5p	HITS-CLIP	23706177
MIRT540589	hsa-miR-371a-5p	HITS-CLIP	23706177
MIRT540588	hsa-miR-372-5p	HITS-CLIP	23706177
MIRT540587	hsa-miR-766-3p	HITS-CLIP	23706177
MIRT540586	hsa-miR-7110-3p	HITS-CLIP	23706177
MIRT540585	hsa-miR-4696	HITS-CLIP	23706177
MIRT540584	hsa-miR-3135a	HITS-CLIP	23706177
MIRT540583	hsa-miR-196a-3p	HITS-CLIP	23706177
MIRT540582	hsa-miR-6512-3p	HITS-CLIP	23706177
MIRT540581	hsa-miR-6720-5p	HITS-CLIP	23706177
MIRT459723	hsa-miR-140-3p	HITS-CLIP	23706177
MIRT459722	hsa-miR-532-3p	HITS-CLIP	23706177
MIRT459721	hsa-miR-188-3p	HITS-CLIP	23706177
MIRT668566	hsa-miR-548ac	HITS-CLIP	23824327
MIRT668565	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT668564	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT668563	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT668562	hsa-miR-548z	HITS-CLIP	23824327
MIRT668561	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT668560	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT668559	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT668558	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT668557	hsa-miR-1266-3p	HITS-CLIP	23824327
MIRT668556	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT668555	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT668554	hsa-miR-1976	HITS-CLIP	23824327
MIRT668553	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT668552	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT668551	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT668550	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT459723	hsa-miR-140-3p	PAR-CLIP	20371350
MIRT459722	hsa-miR-532-3p	PAR-CLIP	20371350
MIRT459721	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT540596	hsa-miR-4432	PAR-CLIP	21572407
MIRT542240	hsa-miR-508-5p	PAR-CLIP	21572407
MIRT540595	hsa-miR-451b	PAR-CLIP	21572407
MIRT540594	hsa-miR-6501-3p	PAR-CLIP	21572407
MIRT540593	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT540592	hsa-miR-371b-5p	PAR-CLIP	21572407
MIRT540591	hsa-miR-373-5p	PAR-CLIP	21572407
MIRT540590	hsa-miR-616-5p	PAR-CLIP	21572407
MIRT540589	hsa-miR-371a-5p	PAR-CLIP	21572407
MIRT540588	hsa-miR-372-5p	PAR-CLIP	21572407
MIRT540587	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT540586	hsa-miR-7110-3p	PAR-CLIP	21572407
MIRT540585	hsa-miR-4696	PAR-CLIP	21572407
MIRT540584	hsa-miR-3135a	PAR-CLIP	21572407
MIRT540583	hsa-miR-196a-3p	PAR-CLIP	21572407
MIRT540582	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT540581	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT540596	hsa-miR-4432	PAR-CLIP	21572407
MIRT540595	hsa-miR-451b	PAR-CLIP	21572407
MIRT540594	hsa-miR-6501-3p	PAR-CLIP	21572407
MIRT540593	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT540592	hsa-miR-371b-5p	PAR-CLIP	21572407
MIRT540591	hsa-miR-373-5p	PAR-CLIP	21572407
MIRT540590	hsa-miR-616-5p	PAR-CLIP	21572407
MIRT540589	hsa-miR-371a-5p	PAR-CLIP	21572407
MIRT540588	hsa-miR-372-5p	PAR-CLIP	21572407
MIRT540587	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT540586	hsa-miR-7110-3p	PAR-CLIP	21572407
MIRT540585	hsa-miR-4696	PAR-CLIP	21572407
MIRT540584	hsa-miR-3135a	PAR-CLIP	21572407
MIRT540583	hsa-miR-196a-3p	PAR-CLIP	21572407
MIRT540582	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT540581	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT459723	hsa-miR-140-3p	PAR-CLIP	23592263
MIRT459722	hsa-miR-532-3p	PAR-CLIP	23592263
MIRT459721	hsa-miR-188-3p	PAR-CLIP	23592263
MIRT459723	hsa-miR-140-3p	PAR-CLIP	23592263
MIRT459722	hsa-miR-532-3p	PAR-CLIP	23592263
MIRT459721	hsa-miR-188-3p	PAR-CLIP	23592263
MIRT733770	hsa-miR-409-3p	Immunoprecipitaion (IP), Luciferase reporter assay, qRT-PCR, Western blotting	33014113
MIRT685170	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT685169	hsa-miR-4459	HITS-CLIP	23313552
MIRT685168	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT540593	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT685167	hsa-miR-3190-5p	HITS-CLIP	23313552
MIRT685166	hsa-miR-3926	HITS-CLIP	23313552
MIRT685165	hsa-miR-3606-5p	HITS-CLIP	23313552
MIRT685164	hsa-miR-548s	HITS-CLIP	23313552
MIRT459723	hsa-miR-140-3p	HITS-CLIP	23706177
MIRT459722	hsa-miR-532-3p	HITS-CLIP	23706177
MIRT459721	hsa-miR-188-3p	HITS-CLIP	23706177
MIRT540596	hsa-miR-4432	HITS-CLIP	23706177
MIRT542240	hsa-miR-508-5p	HITS-CLIP	23706177
MIRT540595	hsa-miR-451b	HITS-CLIP	23706177
MIRT540594	hsa-miR-6501-3p	HITS-CLIP	23706177
MIRT540593	hsa-miR-6849-3p	HITS-CLIP	23706177
MIRT540592	hsa-miR-371b-5p	HITS-CLIP	23706177
MIRT540591	hsa-miR-373-5p	HITS-CLIP	23706177
MIRT540590	hsa-miR-616-5p	HITS-CLIP	23706177
MIRT540589	hsa-miR-371a-5p	HITS-CLIP	23706177
MIRT540588	hsa-miR-372-5p	HITS-CLIP	23706177
MIRT540587	hsa-miR-766-3p	HITS-CLIP	23706177
MIRT540586	hsa-miR-7110-3p	HITS-CLIP	23706177
MIRT540585	hsa-miR-4696	HITS-CLIP	23706177
MIRT540584	hsa-miR-3135a	HITS-CLIP	23706177
MIRT540583	hsa-miR-196a-3p	HITS-CLIP	23706177
MIRT540582	hsa-miR-6512-3p	HITS-CLIP	23706177
MIRT540581	hsa-miR-6720-5p	HITS-CLIP	23706177
MIRT459723	hsa-miR-140-3p	HITS-CLIP	23706177
MIRT459722	hsa-miR-532-3p	HITS-CLIP	23706177
MIRT459721	hsa-miR-188-3p	HITS-CLIP	23706177
MIRT668566	hsa-miR-548ac	HITS-CLIP	23824327
MIRT668565	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT668564	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT668563	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT668562	hsa-miR-548z	HITS-CLIP	23824327
MIRT668561	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT668560	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT668559	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT668558	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT668557	hsa-miR-1266-3p	HITS-CLIP	23824327
MIRT668556	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT668555	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT668554	hsa-miR-1976	HITS-CLIP	23824327
MIRT668553	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT668552	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT668551	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT668550	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT459723	hsa-miR-140-3p	PAR-CLIP	20371350
MIRT459722	hsa-miR-532-3p	PAR-CLIP	20371350
MIRT459721	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT540596	hsa-miR-4432	PAR-CLIP	21572407
MIRT542240	hsa-miR-508-5p	PAR-CLIP	21572407
MIRT540595	hsa-miR-451b	PAR-CLIP	21572407
MIRT540594	hsa-miR-6501-3p	PAR-CLIP	21572407
MIRT540593	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT540592	hsa-miR-371b-5p	PAR-CLIP	21572407
MIRT540591	hsa-miR-373-5p	PAR-CLIP	21572407
MIRT540590	hsa-miR-616-5p	PAR-CLIP	21572407
MIRT540589	hsa-miR-371a-5p	PAR-CLIP	21572407
MIRT540588	hsa-miR-372-5p	PAR-CLIP	21572407
MIRT540587	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT540586	hsa-miR-7110-3p	PAR-CLIP	21572407
MIRT540585	hsa-miR-4696	PAR-CLIP	21572407
MIRT540584	hsa-miR-3135a	PAR-CLIP	21572407
MIRT540583	hsa-miR-196a-3p	PAR-CLIP	21572407
MIRT540582	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT540581	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT540596	hsa-miR-4432	PAR-CLIP	21572407
MIRT540595	hsa-miR-451b	PAR-CLIP	21572407
MIRT540594	hsa-miR-6501-3p	PAR-CLIP	21572407
MIRT540593	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT540592	hsa-miR-371b-5p	PAR-CLIP	21572407
MIRT540591	hsa-miR-373-5p	PAR-CLIP	21572407
MIRT540590	hsa-miR-616-5p	PAR-CLIP	21572407
MIRT540589	hsa-miR-371a-5p	PAR-CLIP	21572407
MIRT540588	hsa-miR-372-5p	PAR-CLIP	21572407
MIRT540587	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT540586	hsa-miR-7110-3p	PAR-CLIP	21572407
MIRT540585	hsa-miR-4696	PAR-CLIP	21572407
MIRT540584	hsa-miR-3135a	PAR-CLIP	21572407
MIRT540583	hsa-miR-196a-3p	PAR-CLIP	21572407
MIRT540582	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT540581	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT459723	hsa-miR-140-3p	PAR-CLIP	23592263
MIRT459722	hsa-miR-532-3p	PAR-CLIP	23592263
MIRT459721	hsa-miR-188-3p	PAR-CLIP	23592263
MIRT459723	hsa-miR-140-3p	PAR-CLIP	23592263
MIRT459722	hsa-miR-532-3p	PAR-CLIP	23592263
MIRT459721	hsa-miR-188-3p	PAR-CLIP	23592263
MIRT968354	hsa-miR-4252	CLIP-seq
MIRT968355	hsa-miR-4537	CLIP-seq
MIRT968356	hsa-miR-4793-3p	CLIP-seq
MIRT968357	hsa-miR-3176	CLIP-seq
MIRT968358	hsa-miR-3663-5p	CLIP-seq
MIRT968359	hsa-miR-3922-3p	CLIP-seq
MIRT968360	hsa-miR-4757-5p	CLIP-seq
MIRT968361	hsa-miR-515-5p	CLIP-seq
MIRT2448920	hsa-miR-1226	CLIP-seq
MIRT2448921	hsa-miR-1470	CLIP-seq
MIRT2448922	hsa-miR-214	CLIP-seq
MIRT2448923	hsa-miR-2355-5p	CLIP-seq
MIRT2448924	hsa-miR-3130-3p	CLIP-seq
MIRT968357	hsa-miR-3176	CLIP-seq
MIRT2448925	hsa-miR-361-3p	CLIP-seq
MIRT2448926	hsa-miR-3619-5p	CLIP-seq
MIRT968359	hsa-miR-3922-3p	CLIP-seq
MIRT2448927	hsa-miR-4530	CLIP-seq
MIRT2448928	hsa-miR-4667-3p	CLIP-seq
MIRT2448929	hsa-miR-4722-5p	CLIP-seq
MIRT2448930	hsa-miR-4738-5p	CLIP-seq
MIRT2448931	hsa-miR-661	CLIP-seq
MIRT2448932	hsa-miR-761	CLIP-seq
MIRT2448933	hsa-miR-767-5p	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
E2F1	Activation	22159227
KAT5	Activation	22159227

Show/Hide all(71)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000014	Function	Single-stranded DNA endodeoxyribonuclease activity	IDA	7559382
GO:0000109	Component	Nucleotide-excision repair complex	IDA	3290851, 7559382, 8197175
GO:0000110	Component	Nucleotide-excision repair factor 1 complex	IBA
GO:0000110	Component	Nucleotide-excision repair factor 1 complex	IDA	10413517
GO:0000720	Process	Pyrimidine dimer repair by nucleotide-excision repair	IEA
GO:0000723	Process	Telomere maintenance	IEA
GO:0000781	Component	Chromosome, telomeric region	IDA	14690602
GO:0001094	Function	TFIID-class transcription factor complex binding	IEA
GO:0003677	Function	DNA binding	IDA	14734547
GO:0003677	Function	DNA binding	IEA
GO:0003684	Function	Damaged DNA binding	IBA
GO:0003684	Function	Damaged DNA binding	IDA	17720715
GO:0003684	Function	Damaged DNA binding	IEA
GO:0003697	Function	Single-stranded DNA binding	IBA
GO:0003697	Function	Single-stranded DNA binding	IDA	16076955, 17720715
GO:0005515	Function	Protein binding	IPI	7559382, 8197175, 9013642, 9722633, 11058119, 14690602, 14706347, 16189514, 16338413, 16491090, 16756962, 17055345, 17289582, 17720715, 17948053, 18812185, 19596235, 19596236, 24780295, 25416956, 25538220, 25910212, 28514442, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IMP	25538220
GO:0006289	Process	Nucleotide-excision repair	IDA	3290851
GO:0006289	Process	Nucleotide-excision repair	IDA	22547097
GO:0006289	Process	Nucleotide-excision repair	IEA
GO:0006289	Process	Nucleotide-excision repair	IEA
GO:0006289	Process	Nucleotide-excision repair	IMP	7657672
GO:0006302	Process	Double-strand break repair	IEA
GO:0006302	Process	Double-strand break repair	IEA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IMP	14690602
GO:0006310	Process	DNA recombination	IEA
GO:0006310	Process	DNA recombination	IEA
GO:0006312	Process	Mitotic recombination	IBA
GO:0006312	Process	Mitotic recombination	IMP	8811092
GO:0006949	Process	Syncytium formation	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006979	Process	Response to oxidative stress	IMP	9256505, 17614221
GO:0007281	Process	Germ cell development	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0009650	Process	UV protection	IEA
GO:0010165	Process	Response to X-ray	IEA
GO:0032204	Process	Regulation of telomere maintenance	IEA
GO:0032205	Process	Negative regulation of telomere maintenance	IMP	17055345
GO:0035166	Process	Post-embryonic hemopoiesis	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0036297	Process	Interstrand cross-link repair	IEA
GO:0045190	Process	Isotype switching	IEA
GO:0048009	Process	Insulin-like growth factor receptor signaling pathway	IEA
GO:0048468	Process	Cell development	IEA
GO:0048477	Process	Oogenesis	IEA
GO:0051276	Process	Chromosome organization	IEA
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IEA
GO:0061819	Process	Telomeric DNA-containing double minutes formation	IMP	14690602
GO:0070522	Component	ERCC4-ERCC1 complex	IBA
GO:0070522	Component	ERCC4-ERCC1 complex	IDA	14690602, 17055345
GO:0070522	Component	ERCC4-ERCC1 complex	IPI	16076955
GO:0070914	Process	UV-damage excision repair	IBA
GO:0090399	Process	Replicative senescence	IEA
GO:0090656	Process	T-circle formation	IEA
GO:0090656	Process	T-circle formation	ISS
GO:1904431	Process	Positive regulation of t-circle formation	IEA
GO:1904431	Process	Positive regulation of t-circle formation	ISS
GO:1905765	Process	Negative regulation of protection from non-homologous end joining at telomere	IMP	14690602
GO:1990599	Function	3' overhang single-stranded DNA endodeoxyribonuclease activity	IMP	14690602
GO:1990841	Function	Promoter-specific chromatin binding	IEA

MIM	HGNC	e!Ensembl
126380	3433	ENSG00000012061

Protein

UniProt ID

P07992

Protein name

DNA excision repair protein ERCC-1

Protein function

[Isoform 1]: Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of interstrand cross-links (ICL). Par

PDB

1Z00 , 2A1I , 2A1J , 2JNW , 2JPD , 2MUT , 6SXA , 6SXB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03834	Rad10	100 → 213	Binding domain of DNA repair protein Ercc1 (rad10/Swi10)	Family
PF00633	HHH	259 → 288	Helix-hairpin-helix motif	Motif

Sequence

MDPGKDKEGVPQPSGPPARKKFVIPLDEDEVPPGVAKPLFRSTQSLPTVDTSAQAAPQTY
AEYAISQPLEGAGATCPTGSEPLAGETPNQALKPGAKSNSIIVSPRQRGNPVLKFVRNVP
WEFGDVIPDYVLGQSTCALFLSLRYHNLHPDYIHGRLQSLGKNFALRVLLVQVDVKDPQQ
ALKELAKMCILADCTLILAWSPEEAGRYLETYKAYEQKPADLLMEKLEQDFVSRVTECLT
TVKSVNKTDSQTLLTTFGSLEQLIAASREDLALCPGLGPQKARRLFDVLHEPFLKVP

Sequence length

297

Interactions

View interactions

	KEGG		Reactome
	Platinum drug resistance Nucleotide excision repair Fanconi anemia pathway		HDR through Single Strand Annealing (SSA) Formation of Incision Complex in GG-NER Dual Incision in GG-NER Dual incision in TC-NER Fanconi Anemia Pathway

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Cerebrooculofacioskeletal Syndrome	cerebrooculofacioskeletal syndrome 4	rs121913027, rs121913028, rs150584960	N/A
Cockayne Syndrome	cockayne syndrome	rs121913028	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or gastroesophageal reflux disease	N/A	N/A	GWAS
COFS Syndrome	COFS syndrome	N/A	N/A	GenCC

Show/Hide Text Mining Associations (153)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	18478337, 19253035, 20332140, 20975603, 22569992, 23470290, 25926247, 28878296
Adenocarcinoma of Lung	Associate	19297315, 20003391, 20003463, 21264830, 22415779, 26617762, 28128193, 28181565, 31521181
Adenoma Pleomorphic	Associate	26031756
Adrenocortical Carcinoma	Associate	29187510
Alzheimer Disease	Inhibit	29474873
Alzheimer Disease	Associate	32160291, 37751459
Anemia	Associate	25881102, 32711417, 39596349
Anthracosis	Associate	39283905
Anxiety	Associate	34284736
Biliary Tract Neoplasms	Associate	19443413
Brain Neoplasms	Associate	27613841, 29923182
Breast Neoplasms	Associate	12938148, 18289367, 20508946, 21394302, 22035021, 23046742, 23909490, 25253066, 26985954, 27223437, 27571987, 27768589, 30096175, 32558176, 32894086 View all (7 more)
Breast Neoplasms	Stimulate	27768589
Calcinosis Cutis	Associate	19068092, 19105824, 26083491
Carcinoma Ductal Breast	Associate	39237917
Carcinoma Hepatocellular	Associate	26967386, 27858866, 29085212, 30946366
Carcinoma Hepatocellular	Inhibit	29085212
Carcinoma Non Small Cell Lung	Associate	15277258, 16957145, 16980606, 17314339, 17640298, 18376380, 18402708, 18442042, 18623378, 19745766, 19884554, 20082278, 20332140, 20418188, 20878620 View all (60 more)
Carcinoma Non Small Cell Lung	Stimulate	27289442
Carcinoma Ovarian Epithelial	Associate	18081788, 18640939, 19574766, 22261301, 27249597, 30640700, 32711417, 36799490
Carcinoma Pancreatic Ductal	Associate	22436573
Carcinoma Small Cell	Associate	18520795
Carcinoma Squamous Cell	Associate	19253035, 20975603, 22269178, 22317771, 23259415, 23335232, 23470290, 26165688, 27893326, 28878296
Carcinoma Squamous Cell	Inhibit	24135250
Central Nervous System Neoplasms	Associate	28976792
Chest Pain	Associate	34284736
Cholangiocarcinoma	Associate	26374242, 31504065
Clear cell metastatic renal cell carcinoma	Associate	26778300
Cockayne Syndrome	Associate	23623389, 33315086, 34096589
Colonic Neoplasms	Inhibit	20689513
Colonic Neoplasms	Associate	37510370
Colorectal Neoplasms	Associate	15213713, 16817948, 18289367, 18797464, 19068092, 19672255, 19850635, 20078613, 22994779, 23169295, 23209813, 23481186, 23496813, 24144331, 24531312 View all (17 more)
Colorectal Neoplasms	Inhibit	20689513
Colorectal Neoplasms	Stimulate	29568775
Coronary Artery Disease	Associate	28743890
Death	Associate	16957145, 17909351, 18640939, 20332140, 21364592, 22616552, 22938424, 23098477, 23513043, 24023723, 24318989, 24370899, 24859833, 24933103, 25227663 View all (10 more)
Deglutition Disorders	Associate	34284736
Dementia	Associate	37751459
Depressive Disorder	Associate	34284736
Diarrhea	Associate	19672255
Disease	Associate	26191265
DNA Virus Infections	Associate	30589644, 31875360
Drug Hypersensitivity	Associate	23982883
Drug Related Side Effects and Adverse Reactions	Associate	17197435, 20418188, 23362830, 25946469, 27566557, 28708208, 29145602, 30563166, 32711417, 33035787, 33273562
Drug Related Side Effects and Adverse Reactions	Stimulate	24817012, 27566557
Esophageal Neoplasms	Associate	19270000, 19620936, 23166636, 27420968
Esophageal Squamous Cell Carcinoma	Associate	20700125, 25191856, 30075571, 32611208
Fanconi Anemia	Associate	18672388, 23623389
Feeding and Eating Disorders	Associate	34284736
Gastritis	Associate	32143126
Gastrointestinal Diseases	Associate	28708208
Glioblastoma	Associate	16212814, 19318434, 24532427
Glioblastoma	Inhibit	19318434
Glioma	Associate	16212814, 19124499, 22938460, 23736022, 24782032, 8583241
Glycogen Storage Disease Type IIb	Associate	18520795
Graft vs Host Disease	Associate	30640700
Granulosa cell tumor of the ovary	Associate	31906898
Growth Disorders	Associate	33315086
Hand Foot Syndrome	Associate	29145602
Head and Neck Neoplasms	Stimulate	20863778
Head and Neck Neoplasms	Associate	24817012, 27165214
Heart Defects Congenital	Associate	26033827
Hepatitis B	Associate	21394302
Hepatoblastoma	Associate	32146800
Hirschsprung Disease	Associate	26314858
Hyperlipidemias	Associate	28743890
Hypoxia	Associate	24817012
Hypoxia Brain	Inhibit	24817012
Incontinentia Pigmenti	Associate	27737534
Laryngeal Neoplasms	Associate	22740347, 24563277, 26617899
Leiomyosarcoma	Associate	26612755
Leukemia Biphenotypic Acute	Associate	9827920
Leukemia Myelomonocytic Chronic	Associate	29797327
Leukemia Prolymphocytic T Cell	Associate	17579621
Lown Ganong Levine Syndrome	Associate	24859833
Lung Diseases	Associate	17197435
Lung Neoplasms	Associate	17314339, 18289367, 18623378, 19253035, 20003391, 20009541, 20863778, 22436573, 23171216, 23275151, 26056042, 26612755, 27183913, 27289442, 28130961 View all (7 more)
Lymphatic Metastasis	Inhibit	23496813
Lymphatic Metastasis	Stimulate	30075571
Lymphatic Metastasis	Associate	33832110
Lymphoma Non Hodgkin	Associate	27566557
Margins of Excision	Associate	26085086, 39523403
Melanoma	Associate	23982883
Mesothelioma Malignant	Associate	21277872, 21765044, 22031231, 24935356, 25840756, 28422153, 30893058, 34353292, 36708568
Metabolic Diseases	Associate	17197435
Mohr Tranebjaerg syndrome	Inhibit	30146342
Myotonic Dystrophy	Associate	1928101
Nasopharyngeal Carcinoma	Associate	19549713, 24340057, 25025378, 25946469, 26125779, 27721259, 28404895, 29439312, 36708557
Nasopharyngeal Neoplasms	Associate	26125779, 31169219
Nausea	Associate	25227833, 32397974
Neoplasm Metastasis	Associate	19687761, 27721259, 31521181, 32008866, 33099907, 40629424
Neoplasms	Associate	16957145, 19105824, 19395913, 19574766, 19723666, 20418188, 20461087, 21043562, 21289518, 22031231, 22035021, 22261301, 22425915, 22569992, 22740347 View all (59 more)
Neoplasms	Inhibit	20689513, 22182450
Neoplasms Basal Cell	Associate	18081788
Neoplasms Germ Cell and Embryonal	Associate	23807173
Neoplasms Squamous Cell	Associate	20700125, 26165688
Nervous System Diseases	Associate	29145602
Neuroblastoma	Associate	22182450, 29544698
Neurotoxicity Syndromes	Associate	33035787
Neutropenia	Associate	27858847, 31797573, 33955129
Oculocerebrorenal Syndrome	Associate	26085086
Osteosarcoma	Associate	23098477, 25755792, 26339355, 26400354, 26436406, 29980176
Ovarian Neoplasms	Associate	10228559, 12785726, 18081788, 19574766, 22901125, 27249597, 28122348, 29669843, 30570863, 30610804, 32951896, 33126828, 33148925, 33273524, 38300970, 8040325, 9722577 View all (2 more)
Ovarian Neoplasms	Inhibit	29669843
Pain	Associate	34284736
Pancreatic Neoplasms	Associate	19543324, 22760605, 26617894, 27051038, 27147577
Paresthesia	Associate	29145602
Penile Neoplasms	Associate	26935231
Pleural Effusion Malignant	Associate	18507058
Pneumoconiosis	Associate	39283905
Poisoning	Associate	26681190
Polyostotic osteolytic dysplasia hereditary expansile	Associate	26314858
Polyposis Syndrome Hereditary Mixed 1	Stimulate	16914027
Postoperative Nausea and Vomiting	Associate	37924126
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	9827920
Prodromal Symptoms	Associate	23759026
Prostatic Neoplasms	Associate	18332046, 22102698, 23433892, 23936089, 25540025, 28747165
Prostatic Neoplasms Castration Resistant	Associate	20495366, 23684781
Protein S Deficiency	Associate	23169295
Pulmonary Disease Chronic Obstructive	Associate	22044695
Rectal Neoplasms	Associate	24531312
Rectal Neoplasms	Stimulate	25532759
Renal Insufficiency	Associate	33315086
Rhabdoid Tumor Predisposition Syndrome 1	Associate	24088734
Rhinitis Allergic	Inhibit	35693108
Rhinitis Allergic	Associate	35693108
Sarcoma	Associate	21287534
Sick Sinus Syndrome	Stimulate	19745766
Small Cell Lung Carcinoma	Associate	20104194, 20107425, 20421821, 22258474, 22344449, 24058603, 39735668
Spinocerebellar Degenerations	Associate	37400750
Squamous Cell Carcinoma of Head and Neck	Inhibit	11900225
Squamous Cell Carcinoma of Head and Neck	Associate	18594541, 21426588, 24088734, 24817012, 25019640, 26505394, 26918827, 28535002, 33029487, 33714009
Stomach Neoplasms	Associate	17322540, 18231104, 18362936, 19009659, 20593954, 21364592, 23166636, 23317227, 23719746, 23884439, 24023723, 24053422, 24175850, 24318989, 24793015 View all (15 more)
Stomatitis	Associate	32397974
Syndrome	Associate	27610644
Tertiary Lymphoid Structures	Associate	27768589
Testicular Germ Cell Tumor	Associate	32167697
Testicular Neoplasms	Associate	10074455, 32167697
Thrombocytopenia	Associate	29145602
Thymic epithelial tumor	Associate	21289518
Thymus Neoplasms	Associate	26254278
Triple Negative Breast Neoplasms	Inhibit	21394302
Triple Negative Breast Neoplasms	Associate	24662920, 30096175, 32558176
Urethral Neoplasms	Associate	26200905, 34898581
Urinary Bladder Neoplasms	Associate	17229776, 20689757, 22616552, 29941343
Uterine Cervical Neoplasms	Associate	28659181, 28708208, 29160417, 29390553, 32107047
Uterine Cervicitis	Associate	21720251
Vomiting	Associate	25227833
Weight Loss	Associate	16980606
Xeroderma Pigmentosum	Associate	23623389, 28130555, 32111838
Xeroderma Pigmentosum Complementation Group F	Associate	26085086
XFE Progeroid Syndrome	Associate	33315086
XFE Progeroid Syndrome	Inhibit	33315086

ERCC1 (ERCC excision repair 1, endonuclease non-catalytic subunit)