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	2074
Gene name	ERCC excision repair 6, chromatin remodeling factor
Gene symbol	ERCC6
Synonyms (NCBI Gene)	ARMD5CKN2COFSCOFS1CSBCSB-PGBD3POF11RAD26UVSS1
Chromosome	10
Chromosome location	10q11.23
Summary	This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formatio

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SNP ID	Visualize variation	Clinical significance	Consequence
rs3793784	G>C	Risk-factor	Genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant
rs4253196	T>C,G	Uncertain-significance, pathogenic	Intron variant, genic downstream transcript variant
rs4253208	G>A,C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, genic downstream transcript variant, missense variant
rs41562713	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs55698015	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs61760163	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs61760166	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs61760167	T>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs114832108	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs115875661	G>A,C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, missense variant, coding sequence variant
rs121917900	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs121917901	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs121917903	G>A	Pathogenic	Stop gained, coding sequence variant
rs121917904	G>A	Pathogenic, likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs121917905	A>C,G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs138756386	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs139007661	T>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant
rs142219494	C>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs145720191	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, missense variant
rs151242354	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs185142838	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs200832611	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs201813523	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs202080674	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs368728467	A>G,T	Uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs371739894	C>A	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant
rs373227647	T>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs375617750	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs376526037	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs527236039	T>-	Pathogenic	Intron variant
rs577021605	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs747651923	ATTT>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs751292948	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant, genic downstream transcript variant
rs751448793	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs751838040	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs754978734	T>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs762976316	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs765825423	CT>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs766980240	C>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs767247987	G>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, stop gained, genic downstream transcript variant
rs768608345	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs771781694	G>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, stop gained
rs772801089	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs774791374	->G	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs786205167	->C	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs786205168	C>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs786205169	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs786205170	->T	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs786205171	T>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs786205172	->AAGGTGGACCTTAAGCAGCCAGCCCT	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs786205173	->A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs786205174	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs786205175	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs875989810	C>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs901360414	C>T	Likely-pathogenic	Splice acceptor variant
rs906755254	G>A	Pathogenic, likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1010201937	C>A,T	Likely-pathogenic	Intron variant
rs1057518910	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1064795562	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1131691890	T>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1198472093	C>G,T	Likely-pathogenic	Splice donor variant
rs1228919836	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1250248245	C>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1287286877	->TC	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1307714476	->TG	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1317145066	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1362935450	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1386369933	->G	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1441655600	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554787509	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1554787554	C>T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554789393	C>TT	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1554790012	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1554794073	T>C	Likely-pathogenic	Splice acceptor variant
rs1554794342	CTGCTGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1554794360	G>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1554794590	C>A	Pathogenic	Stop gained, coding sequence variant
rs1554794620	GC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1554794640	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1554794641	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1554873833	T>G	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554873950	A>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554873973	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554874073	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1554875114	C>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554875154	->A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1554875155	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1554875287	C>T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554875522	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554875536	G>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1564725764	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1590406503	AT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1590413260	T>C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1590492448	CTTGCTCCTGAGT>-	Pathogenic	Frameshift variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT703877	hsa-miR-126-5p	HITS-CLIP	23313552
MIRT703876	hsa-miR-4477a	HITS-CLIP	23313552
MIRT440713	ebv-miR-BART4-5p	HITS-CLIP	22473208
MIRT440713	ebv-miR-BART4-5p	HITS-CLIP	22473208
MIRT703877	hsa-miR-126-5p	HITS-CLIP	23313552
MIRT703876	hsa-miR-4477a	HITS-CLIP	23313552
MIRT968531	hsa-miR-122	CLIP-seq
MIRT968532	hsa-miR-1273e	CLIP-seq
MIRT968533	hsa-miR-1324	CLIP-seq
MIRT968534	hsa-miR-137	CLIP-seq
MIRT968535	hsa-miR-15a	CLIP-seq
MIRT968536	hsa-miR-15b	CLIP-seq
MIRT968537	hsa-miR-16	CLIP-seq
MIRT968538	hsa-miR-1827	CLIP-seq
MIRT968539	hsa-miR-186	CLIP-seq
MIRT968540	hsa-miR-193a-5p	CLIP-seq
MIRT968541	hsa-miR-195	CLIP-seq
MIRT968542	hsa-miR-214	CLIP-seq
MIRT968543	hsa-miR-2681	CLIP-seq
MIRT968544	hsa-miR-3117-5p	CLIP-seq
MIRT968545	hsa-miR-3133	CLIP-seq
MIRT968546	hsa-miR-3150a-3p	CLIP-seq
MIRT968547	hsa-miR-3175	CLIP-seq
MIRT968548	hsa-miR-337-5p	CLIP-seq
MIRT968549	hsa-miR-3612	CLIP-seq
MIRT968550	hsa-miR-3613-3p	CLIP-seq
MIRT968551	hsa-miR-3619-5p	CLIP-seq
MIRT968552	hsa-miR-3662	CLIP-seq
MIRT968553	hsa-miR-3691-3p	CLIP-seq
MIRT968554	hsa-miR-3908	CLIP-seq
MIRT968555	hsa-miR-3942-3p	CLIP-seq
MIRT968556	hsa-miR-409-3p	CLIP-seq
MIRT968557	hsa-miR-424	CLIP-seq
MIRT968558	hsa-miR-4266	CLIP-seq
MIRT968559	hsa-miR-4274	CLIP-seq
MIRT968560	hsa-miR-4279	CLIP-seq
MIRT968561	hsa-miR-4291	CLIP-seq
MIRT968562	hsa-miR-4307	CLIP-seq
MIRT968563	hsa-miR-4475	CLIP-seq
MIRT968564	hsa-miR-4476	CLIP-seq
MIRT968565	hsa-miR-4495	CLIP-seq
MIRT968566	hsa-miR-4505	CLIP-seq
MIRT968567	hsa-miR-4524	CLIP-seq
MIRT968568	hsa-miR-4527	CLIP-seq
MIRT968569	hsa-miR-4528	CLIP-seq
MIRT968570	hsa-miR-4651	CLIP-seq
MIRT968571	hsa-miR-4690-5p	CLIP-seq
MIRT968572	hsa-miR-4695-5p	CLIP-seq
MIRT968573	hsa-miR-4771	CLIP-seq
MIRT968574	hsa-miR-4779	CLIP-seq
MIRT968575	hsa-miR-488	CLIP-seq
MIRT968576	hsa-miR-491-5p	CLIP-seq
MIRT968577	hsa-miR-497	CLIP-seq
MIRT968578	hsa-miR-499-3p	CLIP-seq
MIRT968579	hsa-miR-499a-3p	CLIP-seq
MIRT968580	hsa-miR-503	CLIP-seq
MIRT968581	hsa-miR-548c-3p	CLIP-seq
MIRT968582	hsa-miR-561	CLIP-seq
MIRT968583	hsa-miR-592	CLIP-seq
MIRT968584	hsa-miR-597	CLIP-seq
MIRT968585	hsa-miR-608	CLIP-seq
MIRT968586	hsa-miR-622	CLIP-seq
MIRT968587	hsa-miR-646	CLIP-seq
MIRT968588	hsa-miR-650	CLIP-seq
MIRT968589	hsa-miR-651	CLIP-seq
MIRT968590	hsa-miR-668	CLIP-seq
MIRT968591	hsa-miR-761	CLIP-seq
MIRT968592	hsa-miR-922	CLIP-seq
MIRT968593	hsa-miR-939	CLIP-seq
MIRT1548395	hsa-let-7a	CLIP-seq
MIRT1548396	hsa-let-7b	CLIP-seq
MIRT1548397	hsa-let-7c	CLIP-seq
MIRT1548398	hsa-let-7d	CLIP-seq
MIRT1548399	hsa-let-7e	CLIP-seq
MIRT1548400	hsa-let-7f	CLIP-seq
MIRT1548401	hsa-let-7g	CLIP-seq
MIRT1548402	hsa-let-7i	CLIP-seq
MIRT1548403	hsa-miR-125a-5p	CLIP-seq
MIRT1548404	hsa-miR-125b	CLIP-seq
MIRT1548405	hsa-miR-202	CLIP-seq
MIRT1548406	hsa-miR-3529	CLIP-seq
MIRT1548407	hsa-miR-379	CLIP-seq
MIRT1548408	hsa-miR-3913-3p	CLIP-seq
MIRT1548409	hsa-miR-3927	CLIP-seq
MIRT1548410	hsa-miR-4303	CLIP-seq
MIRT1548411	hsa-miR-4319	CLIP-seq
MIRT1548412	hsa-miR-4458	CLIP-seq
MIRT1548413	hsa-miR-4500	CLIP-seq
MIRT1548414	hsa-miR-4649-3p	CLIP-seq
MIRT1548415	hsa-miR-495	CLIP-seq
MIRT968582	hsa-miR-561	CLIP-seq
MIRT1548416	hsa-miR-98	CLIP-seq
MIRT1987065	hsa-miR-105	CLIP-seq
MIRT1987066	hsa-miR-1202	CLIP-seq
MIRT968531	hsa-miR-122	CLIP-seq
MIRT1987067	hsa-miR-1253	CLIP-seq
MIRT1987068	hsa-miR-1254	CLIP-seq
MIRT1987069	hsa-miR-147	CLIP-seq
MIRT1987070	hsa-miR-1587	CLIP-seq
MIRT968540	hsa-miR-193a-5p	CLIP-seq
MIRT1987071	hsa-miR-3116	CLIP-seq
MIRT1987072	hsa-miR-3158-5p	CLIP-seq
MIRT1987073	hsa-miR-3166	CLIP-seq
MIRT1987074	hsa-miR-3194-5p	CLIP-seq
MIRT968548	hsa-miR-337-5p	CLIP-seq
MIRT1987075	hsa-miR-3972	CLIP-seq
MIRT1987076	hsa-miR-3977	CLIP-seq
MIRT1987077	hsa-miR-4254	CLIP-seq
MIRT1987078	hsa-miR-4265	CLIP-seq
MIRT1987079	hsa-miR-4296	CLIP-seq
MIRT1987080	hsa-miR-4322	CLIP-seq
MIRT1987081	hsa-miR-433	CLIP-seq
MIRT1987082	hsa-miR-4417	CLIP-seq
MIRT1987083	hsa-miR-4470	CLIP-seq
MIRT1987084	hsa-miR-4492	CLIP-seq
MIRT1987085	hsa-miR-4498	CLIP-seq
MIRT968566	hsa-miR-4505	CLIP-seq
MIRT968568	hsa-miR-4527	CLIP-seq
MIRT1987086	hsa-miR-4656	CLIP-seq
MIRT1987087	hsa-miR-4675	CLIP-seq
MIRT1987088	hsa-miR-4722-3p	CLIP-seq
MIRT1987089	hsa-miR-4741	CLIP-seq
MIRT1987090	hsa-miR-4763-5p	CLIP-seq
MIRT968573	hsa-miR-4771	CLIP-seq
MIRT1987091	hsa-miR-522	CLIP-seq
MIRT1987092	hsa-miR-596	CLIP-seq
MIRT968584	hsa-miR-597	CLIP-seq
MIRT1987093	hsa-miR-599	CLIP-seq
MIRT968590	hsa-miR-668	CLIP-seq
MIRT1987094	hsa-miR-762	CLIP-seq
MIRT1548395	hsa-let-7a	CLIP-seq
MIRT1548396	hsa-let-7b	CLIP-seq
MIRT1548397	hsa-let-7c	CLIP-seq
MIRT1548398	hsa-let-7d	CLIP-seq
MIRT1548399	hsa-let-7e	CLIP-seq
MIRT1548400	hsa-let-7f	CLIP-seq
MIRT1548401	hsa-let-7g	CLIP-seq
MIRT1548402	hsa-let-7i	CLIP-seq
MIRT1987065	hsa-miR-105	CLIP-seq
MIRT2221463	hsa-miR-1200	CLIP-seq
MIRT2221464	hsa-miR-1225-5p	CLIP-seq
MIRT2221465	hsa-miR-1252	CLIP-seq
MIRT1987067	hsa-miR-1253	CLIP-seq
MIRT1548403	hsa-miR-125a-5p	CLIP-seq
MIRT1548404	hsa-miR-125b	CLIP-seq
MIRT968532	hsa-miR-1273e	CLIP-seq
MIRT2221466	hsa-miR-1273g	CLIP-seq
MIRT968534	hsa-miR-137	CLIP-seq
MIRT1987069	hsa-miR-147	CLIP-seq
MIRT1987070	hsa-miR-1587	CLIP-seq
MIRT968538	hsa-miR-1827	CLIP-seq
MIRT1548405	hsa-miR-202	CLIP-seq
MIRT968542	hsa-miR-214	CLIP-seq
MIRT2221467	hsa-miR-2277-3p	CLIP-seq
MIRT2221468	hsa-miR-3144-3p	CLIP-seq
MIRT968546	hsa-miR-3150a-3p	CLIP-seq
MIRT2221469	hsa-miR-3151	CLIP-seq
MIRT968547	hsa-miR-3175	CLIP-seq
MIRT2221470	hsa-miR-3200-3p	CLIP-seq
MIRT1548406	hsa-miR-3529	CLIP-seq
MIRT968549	hsa-miR-3612	CLIP-seq
MIRT968551	hsa-miR-3619-5p	CLIP-seq
MIRT2221471	hsa-miR-3650	CLIP-seq
MIRT1548407	hsa-miR-379	CLIP-seq
MIRT2221472	hsa-miR-3911	CLIP-seq
MIRT1548408	hsa-miR-3913-3p	CLIP-seq
MIRT2221473	hsa-miR-3919	CLIP-seq
MIRT1548409	hsa-miR-3927	CLIP-seq
MIRT968555	hsa-miR-3942-3p	CLIP-seq
MIRT2221474	hsa-miR-3944-5p	CLIP-seq
MIRT2221475	hsa-miR-4251	CLIP-seq
MIRT2221476	hsa-miR-4261	CLIP-seq
MIRT1987078	hsa-miR-4265	CLIP-seq
MIRT968561	hsa-miR-4291	CLIP-seq
MIRT1987079	hsa-miR-4296	CLIP-seq
MIRT1548410	hsa-miR-4303	CLIP-seq
MIRT1548411	hsa-miR-4319	CLIP-seq
MIRT1987080	hsa-miR-4322	CLIP-seq
MIRT2221477	hsa-miR-4324	CLIP-seq
MIRT1987082	hsa-miR-4417	CLIP-seq
MIRT2221478	hsa-miR-4426	CLIP-seq
MIRT2221479	hsa-miR-4447	CLIP-seq
MIRT1548412	hsa-miR-4458	CLIP-seq
MIRT2221480	hsa-miR-4472	CLIP-seq
MIRT1987084	hsa-miR-4492	CLIP-seq
MIRT2221481	hsa-miR-4496	CLIP-seq
MIRT1987085	hsa-miR-4498	CLIP-seq
MIRT1548413	hsa-miR-4500	CLIP-seq
MIRT2221482	hsa-miR-4647	CLIP-seq
MIRT1548414	hsa-miR-4649-3p	CLIP-seq
MIRT968570	hsa-miR-4651	CLIP-seq
MIRT1987086	hsa-miR-4656	CLIP-seq
MIRT2221483	hsa-miR-4662b	CLIP-seq
MIRT1987087	hsa-miR-4675	CLIP-seq
MIRT2221484	hsa-miR-4696	CLIP-seq
MIRT1987089	hsa-miR-4741	CLIP-seq
MIRT968573	hsa-miR-4771	CLIP-seq
MIRT2221485	hsa-miR-4793-5p	CLIP-seq
MIRT968576	hsa-miR-491-5p	CLIP-seq
MIRT1548415	hsa-miR-495	CLIP-seq
MIRT2221486	hsa-miR-519a	CLIP-seq
MIRT2221487	hsa-miR-519b-3p	CLIP-seq
MIRT2221488	hsa-miR-519c-3p	CLIP-seq
MIRT2221489	hsa-miR-544b	CLIP-seq
MIRT2221490	hsa-miR-555	CLIP-seq
MIRT968582	hsa-miR-561	CLIP-seq
MIRT2221491	hsa-miR-582-5p	CLIP-seq
MIRT1987093	hsa-miR-599	CLIP-seq
MIRT968585	hsa-miR-608	CLIP-seq
MIRT2221492	hsa-miR-644	CLIP-seq
MIRT968588	hsa-miR-650	CLIP-seq
MIRT968591	hsa-miR-761	CLIP-seq
MIRT1987094	hsa-miR-762	CLIP-seq
MIRT2221493	hsa-miR-875-5p	CLIP-seq
MIRT968592	hsa-miR-922	CLIP-seq
MIRT968593	hsa-miR-939	CLIP-seq
MIRT1548416	hsa-miR-98	CLIP-seq
MIRT1548395	hsa-let-7a	CLIP-seq
MIRT1548396	hsa-let-7b	CLIP-seq
MIRT1548397	hsa-let-7c	CLIP-seq
MIRT1548398	hsa-let-7d	CLIP-seq
MIRT1548399	hsa-let-7e	CLIP-seq
MIRT1548400	hsa-let-7f	CLIP-seq
MIRT1548401	hsa-let-7g	CLIP-seq
MIRT1548402	hsa-let-7i	CLIP-seq
MIRT1548405	hsa-miR-202	CLIP-seq
MIRT1548406	hsa-miR-3529	CLIP-seq
MIRT1548407	hsa-miR-379	CLIP-seq
MIRT1548409	hsa-miR-3927	CLIP-seq
MIRT1548410	hsa-miR-4303	CLIP-seq
MIRT1548412	hsa-miR-4458	CLIP-seq
MIRT1548413	hsa-miR-4500	CLIP-seq
MIRT1548414	hsa-miR-4649-3p	CLIP-seq
MIRT1548416	hsa-miR-98	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000012	Process	Single strand break repair	IDA	29545921
GO:0000077	Process	DNA damage checkpoint signaling	IMP	25820262
GO:0000166	Function	Nucleotide binding	IEA
GO:0000303	Process	Response to superoxide	IEA
GO:0002230	Process	Positive regulation of defense response to virus by host	IMP	22483866
GO:0003677	Function	DNA binding	IDA	8999876, 12560492, 16107709
GO:0003677	Function	DNA binding	IEA
GO:0003678	Function	DNA helicase activity	IDA	8999876
GO:0003682	Function	Chromatin binding	IDA	26620705
GO:0003682	Function	Chromatin binding	IMP	25820262
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	7663514, 7664335, 8999876, 10944529, 16107709, 16246722, 17626041, 22466612, 24874740, 26030138, 28292928, 29203878
GO:0005524	Function	ATP binding	IDA	12560492, 16107709
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	32355176
GO:0005634	Component	Nucleus	IDA	12560492, 17626041
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	16107709
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IDA	16107709, 17626041
GO:0005730	Component	Nucleolus	NAS	23555303
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IMP	26218421
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IBA
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IDA	9565609, 32355176, 34526721, 38316879, 38600235
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IEA
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IEA
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IMP	10564257, 26620705
GO:0006284	Process	Base-excision repair	IMP	9973627
GO:0006290	Process	Pyrimidine dimer repair	IEA
GO:0006338	Process	Chromatin remodeling	NAS	12769854
GO:0006362	Process	Transcription elongation by RNA polymerase I	IEA
GO:0006366	Process	Transcription by RNA polymerase II	NAS	7664335
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006979	Process	Response to oxidative stress	IDA	16107709
GO:0006979	Process	Response to oxidative stress	IEA
GO:0006979	Process	Response to oxidative stress	IGI	17626041
GO:0007254	Process	JNK cascade	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0008023	Component	Transcription elongation factor complex	IDA	9326587
GO:0008094	Function	ATP-dependent activity, acting on DNA	IDA	8999876, 12560492, 16107709
GO:0008094	Function	ATP-dependent activity, acting on DNA	IMP	25820262
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IEA
GO:0009411	Process	Response to UV	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0010165	Process	Response to X-ray	IEA
GO:0010224	Process	Response to UV-B	IEA
GO:0010332	Process	Response to gamma radiation	IEA
GO:0010628	Process	Positive regulation of gene expression	HMP	22483866
GO:0010628	Process	Positive regulation of gene expression	IMP	22483866
GO:0016567	Process	Protein ubiquitination	IDA	34526721
GO:0016604	Component	Nuclear body	IDA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0022008	Process	Neurogenesis	IMP	24874740
GO:0030182	Process	Neuron differentiation	IMP	24874740
GO:0030296	Function	Protein tyrosine kinase activator activity	IDA	17626041
GO:0031175	Process	Neuron projection development	IMP	24874740
GO:0032784	Process	Regulation of DNA-templated transcription elongation	IDA	9326587
GO:0032786	Process	Positive regulation of DNA-templated transcription, elongation	IDA	9326587
GO:0033141	Process	Positive regulation of peptidyl-serine phosphorylation of STAT protein	IMP	22483866
GO:0034243	Process	Regulation of transcription elongation by RNA polymerase II	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0042262	Process	DNA protection	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	22483866
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0045739	Process	Positive regulation of DNA repair	IGI	22483866
GO:0045739	Process	Positive regulation of DNA repair	IMP	22483866
GO:0045943	Process	Positive regulation of transcription by RNA polymerase I	NAS	23555303
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	NAS	26044184
GO:0045945	Process	Positive regulation of transcription by RNA polymerase III	IDA	16603771
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IEA
GO:0070063	Function	RNA polymerase binding	IDA	26218421
GO:0071168	Process	Protein localization to chromatin	IDA	32355176
GO:0090734	Component	Site of DNA damage	IDA	32355176
GO:0090734	Component	Site of DNA damage	IDA	28292928
GO:0097680	Process	Double-strand break repair via classical nonhomologous end joining	IDA	29545921
GO:0110016	Component	B-WICH complex	IDA	16603771
GO:0140463	Function	Chromatin-protein adaptor activity	IDA	32355176
GO:0140658	Function	ATP-dependent chromatin remodeler activity	IBA
GO:0140658	Function	ATP-dependent chromatin remodeler activity	IDA	9565609
GO:0140658	Function	ATP-dependent chromatin remodeler activity	IMP	29203878
GO:0140664	Function	ATP-dependent DNA damage sensor activity	IDA	32355176
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IMP	25820262
GO:2001033	Process	Negative regulation of double-strand break repair via nonhomologous end joining	IMP	25820262

MIM	HGNC	e!Ensembl
609413	3438	ENSG00000225830

P0DP91

Protein name

Chimeric ERCC6-PGBD3 protein (Chimeric CSB-PGBD3 protein)

Protein function

Involved in repair of DNA damage following UV irradiation, acting either in the absence of ERCC6 or synergistically with ERCC6. Involved in the regulation of gene expression. In the absence of ERCC6, induces the expression of genes characteristi

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13843	DDE_Tnp_1_7	609 → 967	Transposase IS4	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in heart and oocytes, but not in granulosa cells (at protein level). {ECO:0000269|PubMed:26218421}.

Sequence

MPNEGIPHSSQTQEQDCLQSQPVSNNEEMAIKQESGGDGEVEEYLSFRSVGDGLSTSAVG
CASAAPRRGPALLHIDRHQIQAVEPSAQALELQGLGVDVYDQDVLEQGVLQQVDNAIHEA
SRASQLVDVEKEYRSVLDDLTSCTTSLRQINKIIEQLSPQAATSRDINRKLDSVKRQKYN
KEQQLKKITAKQKHLQAILGGAEVKIELDHASLEEDAEPGPSSLGSMLMPVQETAWEELI
RTGQMTPFGTQIPQKQEKKPRKIMLNEASGFEKYLADQAKLSFERKKQGCNKRAARKAPA
PVTPPAPVQNKNKPNKKARVLSKKEERLKKHIKKLQKRALQFQGKVGLPKARRPWESDMR
PEAEGDSEGEESEYFPTEEEEEEEDDEVEGAEADLSGDGTDYELKPLPKGGKRQKKVPVQ
EIDDDFFPSSGEEAEAASVGEGGGGGRKVGRYRDDGDEDYYKQRLSPKMPRTLSLHEITD
LLETDDSIEASAIVIQPPENATAPVSDEESGDEEGGTINNLPGSLLHTAAYLIQDGSDAE
SDSDDPSYAPKDDSPDEVPSTFTVQQPPPSRRRKMTKILCKWKKADLTVQPVAGRVTAPP
NDFFTVMRTPTEILELFLDDEVIELIVKYSNLYACSKGVHLGLTSSEFKCFLGIIFLSGY
VSVPRRRMFWEQRTDVHNVLVSAAMRRDRFETIFSNLHVADNANLDPVDKFSKLRPLISK
LNERCMKFVPNETYFSFDEFMVPYFGRHGCKQFIRGKPIRFGYKFWCGATCLGYICWFQP
YQGKNPNTKHEEYGVGASLVLQFSEALTEAHPGQYHFVFNNFFTSIALLDKLSSMGHQAT
GTVRKDHIDRVPLESDVALKKKERGTFDYRIDGKGNIVCRWNDNSVVTVASSGAGIHPLC
LVSRYSQKLKKKIQVQQPNMIKVYNQFMGGVDRADENIDKYRASIRGKKWYSSPLLFCFE
LVLQNAWQLHKTYDEKPVDFLEFRRRVVCHYLETHGHPPEPGQKGRPQKRNIDSRYDGIN
HVIVKQGKQTRCAECHKNTTFRCEKCDVALHVKCSVEYHTE

Sequence length

1061

Q03468

Protein name

DNA excision repair protein ERCC-6 (EC 3.6.4.-) (ATP-dependent helicase ERCC6) (Cockayne syndrome protein CSB)

Protein function

Essential factor involved in transcription-coupled nucleotide excision repair (TC-NER), a process during which RNA polymerase II-blocking lesions are rapidly removed from the transcribed strand of active genes (PubMed:16246722, PubMed:20541997,

PDB

4CVO , 7OO3 , 7OOB , 7OOP , 7OPC , 7OPD , 8B3D , 8B3F , 9BZ0 , 9ER2 , 9FD2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00176	SNF2_N	506 → 812	SNF2 family N-terminal domain	Family
PF00271	Helicase_C	840 → 952	Helicase conserved C-terminal domain	Family

Sequence

MPNEGIPHSSQTQEQDCLQSQPVSNNEEMAIKQESGGDGEVEEYLSFRSVGDGLSTSAVG
CASAAPRRGPALLHIDRHQIQAVEPSAQALELQGLGVDVYDQDVLEQGVLQQVDNAIHEA
SRASQLVDVEKEYRSVLDDLTSCTTSLRQINKIIEQLSPQAATSRDINRKLDSVKRQKYN
KEQQLKKITAKQKHLQAILGGAEVKIELDHASLEEDAEPGPSSLGSMLMPVQETAWEELI
RTGQMTPFGTQIPQKQEKKPRKIMLNEASGFEKYLADQAKLSFERKKQGCNKRAARKAPA
PVTPPAPVQNKNKPNKKARVLSKKEERLKKHIKKLQKRALQFQGKVGLPKARRPWESDMR
PEAEGDSEGEESEYFPTEEEEEEEDDEVEGAEADLSGDGTDYELKPLPKGGKRQKKVPVQ
EIDDDFFPSSGEEAEAASVGEGGGGGRKVGRYRDDGDEDYYKQRLRRWNKLRLQDKEKRL
KLEDDSEESDAEFDEGFKVPGFLFKKLFKYQQTGVRWLWELHCQQAGGILGDEMGLGKTI
QIIAFLAGLSYSKIRTRGSNYRFEGLGPTVIVCPTTVMHQWVKEFHTWWPPFRVAILHET
GSYTHKKEKLIRDVAHCHGILITSYSYIRLMQDDISRYDWHYVILDEGHKIRNPNAAVTL
ACKQFRTPHRIILSGSPMQNNLRELWSLFDFIFPGKLGTLPVFMEQFSVPITMGGYSNAS
PVQVKTAYKCACVLRDTINPYLLRRMKSDVKMSLSLPDKNEQVLFCRLTDEQHKVYQNFV
DSKEVYRILNGEMQIFSGLIALRKICNHPDLFSGGPKNLKGLPDDELEEDQFGYWKRSGK
MIVVESLLKIWHKQGQRVLLFSQSRQMLDILEVFLRAQKYTYLKMDGTTTIASRQPLITR
YNEDTSIFVFLLTTRVGGLGVNLTGANRVVIYDPDWNPSTDTQARERAWRIGQKKQVTVY
RLLTAGTIEEKIYHRQIFKQFLTNRVLKDPKQRRFFKSNDLYELFTLTSPDASQSTETSA
IFAGTGSDVQTPKCHLKRRIQPAFGADHDVPKRKKFPASNISVNDATSSEEKSEAKGAEV
NAVTSNRSDPLKDDPHMSSNVTSNDRLGEETNAVSGPEELSVISGNGECSNSSGTGKTSM
PSGDESIDEKLGLSYKRERPSQAQTEAFWENKQMENNFYKHKSKTKHHSVAEEETLEKHL
RPKQKPKNSKHCRDAKFEGTRIPHLVKKRRYQKQDSENKSEAKEQSNDDYVLEKLFKKSV
GVHSVMKHDAIMDGASPDYVLVEAEANRVAQDALKALRLSRQRCLGAVSGVPTWTGHRGI
SGAPAGKKSRFGKKRNSNFSVQHPSSTSPTEKCQDGIMKKEGKDNVPEHFSGRAEDADSS
SGPLASSSLLAKMRARNHLILPERLESESGHLQEASALLPTTEHDDLLVEMRNFIAFQAH
TDGQASTREILQEFESKLSASQSCVFRELLRNLCTFHRTSGGEGIWKLKPEYC

Sequence length

1493

Interactions

View interactions

	KEGG		Reactome
	Nucleotide excision repair		B-WICH complex positively regulates rRNA expression 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 RNA Polymerase I Transcription Initiation

1205

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebrooculofacioskeletal syndrome 1	Pathogenic; Likely pathogenic	rs1439211546, rs1554875114, rs777252763, rs121917901, rs121917902, rs758341467, rs121917904, rs1590413260, rs765825423, rs786205172, rs786205171, rs786205170, rs4253196, rs774791374, rs767247987 View all (41 more)	RCV001336673 RCV001580610 RCV001775290 RCV001199022 RCV000669858 RCV000001775 RCV000001781 RCV000001783 RCV000666483 RCV000671320 RCV000666242 RCV000668548 RCV000666576 RCV000668158 RCV000667169 RCV000675120 RCV000674902 RCV003128559 RCV003155870 RCV003324298 RCV000024284 RCV001775125 RCV000674384 RCV000626193 RCV000672776 RCV000666791 RCV000671515 RCV000669221 RCV000674266 RCV000674964 RCV000665546 RCV000665499 RCV000667164 RCV000664549 RCV000670522 RCV000666961 RCV000673909 RCV000670497 RCV000667893 RCV000669337 RCV000672932 RCV000674136 RCV000674275 RCV000668815 RCV000665459 RCV000666614 RCV000672864 RCV000670109 RCV000674969 RCV000671000 RCV000673910 RCV000665527 RCV000670903 RCV000664845 RCV000672335 RCV000669424 RCV000666618 RCV001030756
Clear cell carcinoma of kidney	Likely pathogenic; Pathogenic	rs754978734	RCV005901449
Cockayne spectrum with or without cerebrooculofacioskeletal syndrome	Likely pathogenic; Pathogenic	rs371739894, rs1338061432, rs766980240	RCV005361058 RCV005637023 RCV005632586
Cockayne syndrome	Likely pathogenic; Pathogenic	rs2132639937, rs121917903, rs765825423, rs786205171, rs4253196, rs151242354, rs767247987, rs371739894, rs368728467, rs2495943651, rs1554875536, rs1441655600, rs754978734, rs771781694, rs577021605 View all (3 more)	RCV003226489 RCV003230340 RCV002271445 RCV003114321 RCV002271444 RCV002271443 RCV003491926 RCV001280930 RCV001844081 RCV003226631 RCV005418228 RCV005056413 RCV003987654 RCV004800516 RCV004579558 RCV002469293 RCV002469337 RCV003155345
Cockayne syndrome type 2	Likely pathogenic; Pathogenic	rs2132544294, rs527236039, rs2132621608, rs121917900, rs121917901, rs121917902, rs387906262, rs2132552521, rs121917903, rs1590474873, rs121917904, rs2496166571, rs2495984631, rs143502251, rs2496009170 View all (134 more)	RCV001807909 RCV000132720 RCV002237201 RCV000001768 RCV000001769 RCV000001772 RCV000001773 RCV000001774 RCV000502276 RCV000001780 RCV005245478 RCV002283706 RCV002284045 RCV002306575 RCV002306603 RCV002306635 RCV002306693 RCV002306781 RCV002309583 RCV002309753 RCV002309996 RCV002310046 RCV002310057 RCV002307869 RCV002307986 RCV002307996 RCV002308010 RCV002308028 RCV002308235 RCV002308255 RCV002308259 RCV002308324 RCV002308356 RCV002309394 RCV002309474 RCV002309493 RCV002306857 RCV002306858 RCV002306938 RCV002307034 RCV002307154 RCV002307325 RCV002307349 RCV002310135 RCV002310157 RCV002310215 RCV002310315 RCV002310323 RCV002310402 RCV002310431 RCV002310498 RCV002310545 RCV002310567 RCV002308468 RCV003227073 RCV000170391 RCV000170390 RCV000170389 RCV000170388 RCV000170387 RCV000170386 RCV000170385 RCV000170381 RCV000170380 RCV000170378 RCV000170377 RCV000170376 RCV000170375 RCV000170373 RCV000170366 RCV000170365 RCV000170368 RCV000170364 RCV004596560 RCV000195010 RCV000194098 RCV000193828 RCV000674902 RCV003128559 RCV005860361 RCV003883232 RCV004576130 RCV000671085 RCV000502392 RCV000500198 RCV003313967 RCV000674384 RCV000625851 RCV000672776 RCV000666791 RCV000671515 RCV000669221 RCV000674266 RCV000674964 RCV000665546 RCV000665499 RCV000667164 RCV000664549 RCV000670522 RCV000666961 RCV000673909 RCV000670497 RCV000667893 RCV000669337 RCV000672932 RCV000674136 RCV000674275 RCV000668815 RCV001810469 RCV000665459 RCV000666614 RCV000672864 RCV000670109 RCV000674969 RCV000671000 RCV000673910 RCV000665527 RCV000670903 RCV000664845 RCV000672335 RCV000669424 RCV000666618 RCV000735200 RCV000853311 RCV001030756 RCV003339450 RCV001264145 RCV005866786 RCV001089544 RCV001251189 RCV001264262 RCV001263687 RCV001263688 RCV001263689 RCV001263690 RCV001263691 RCV001263692 RCV001263693 RCV001263694 RCV001263767 RCV001263768 RCV001263769 RCV001263770 RCV001263771 RCV001263772 RCV001263773 RCV001263774 RCV001264144 RCV001264146 RCV001264147 RCV001264148 RCV001264149
DE SANCTIS-CACCHIONE SYNDROME	Pathogenic; Likely pathogenic	rs121917901, rs121917902, rs121917904, rs765825423, rs786205172, rs786205171, rs786205170, rs373227647, rs4253196, rs151242354, rs774791374, rs767247987, rs371739894, rs368728467, rs751838040 View all (41 more)	RCV000001770 RCV000669858 RCV000983998 RCV000666483 RCV000671320 RCV000666242 RCV000668548 RCV000984002 RCV000666576 RCV000983999 RCV000668158 RCV000667169 RCV000983983 RCV000675120 RCV000984001 RCV000674902 RCV003128559 RCV005871217 RCV000671085 RCV000664544 RCV000674384 RCV000672776 RCV000666791 RCV000671515 RCV000669221 RCV000674266 RCV000674964 RCV000665546 RCV000665499 RCV000667164 RCV000664549 RCV000670522 RCV000666961 RCV000673909 RCV000670497 RCV000667893 RCV000669337 RCV000672932 RCV000674136 RCV000674275 RCV000668815 RCV000665459 RCV000666614 RCV000672864 RCV000670109 RCV000674969 RCV000671000 RCV000673910 RCV000665527 RCV000670903 RCV000664845 RCV000672335 RCV000669424 RCV000666618 RCV000988353 RCV000988356 RCV001030756
ERCC6-related disorder	Pathogenic; Likely pathogenic	rs1439211546, rs121917901, rs758341467, rs121917904, rs4253196, rs151242354, rs1554794360, rs747903426, rs751448793, rs577021605, rs1590406503, rs1850818899	RCV004733255 RCV000406377 RCV004732523 RCV000333649 RCV006270350 RCV000778283 RCV005869917 RCV004723610 RCV004732993 RCV002221572 RCV004733045 RCV004536096
Gastric cancer	Pathogenic	rs1362935450	RCV005912650
Genetic non-acquired premature ovarian failure	Pathogenic	rs866374385	RCV001663370
Premature ovarian failure 11	Pathogenic	rs878854403, rs875989810	RCV000211123 RCV000211122
See cases	Pathogenic	rs577021605	RCV002252204
UV-sensitive syndrome 1	Pathogenic	rs121917903	RCV000001777

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1361909458	-
Acute myeloid leukemia	Benign; Likely benign	rs35182583	RCV005907099
Age related macular degeneration 5	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs4253208, rs3793784, rs4253207, rs116373975, rs150935953, rs80133923, rs148845653, rs114896216, rs41562713, rs2274097, rs2228525, rs61760166, rs547014227, rs886047026, rs886047030 View all (135 more)	RCV000291488 RCV000001778 RCV000301771 RCV000329433 RCV000340086 RCV000402991 RCV000354594 RCV000340937 RCV000328199 RCV000292842 RCV000279516 RCV000397087 RCV000351993 RCV000279696 RCV000275929 RCV000343389 RCV000332519 RCV000260758 RCV000318342 RCV000388236 RCV000329619 RCV000333330 RCV000335612 RCV000350825 RCV000326056 RCV000335550 RCV000273044 RCV000376746 RCV000388161 RCV000323401 RCV000389601 RCV000282114 RCV000310096 RCV000265336 RCV000394988 RCV000274507 RCV000316584 RCV000397993 RCV000353273 RCV000361480 RCV000294639 RCV000378213 RCV000403215 RCV000303633 RCV000404286 RCV000297552 RCV000265214 RCV000388093 RCV000407921 RCV000308605 RCV000301875 RCV000263560 RCV000333763 RCV000402835 RCV000295151 RCV000341541 RCV000332299 RCV000331280 RCV000285528 RCV000293903 RCV000326082 RCV000327420 RCV000291208 RCV000279226 RCV000374778 RCV000345920 RCV000311187 RCV000403327 RCV000384197 RCV000352304 RCV000273288 RCV000362821 RCV000341135 RCV000307520 RCV000408050 RCV000300289 RCV000391442 RCV000356350 RCV000288461 RCV000314289 RCV000363685 RCV000269037 RCV000323106 RCV000405490 RCV000259702 RCV000274635 RCV000324861 RCV000405537 RCV000298809 RCV000332639 RCV000364031 RCV000293985 RCV000267938 RCV000280700 RCV001105259 RCV001106688 RCV001105652 RCV001103341 RCV001107524 RCV001103899 RCV001103901 RCV001103906 RCV001104185 RCV001104188 RCV001106954 RCV001106957 RCV001106960 RCV001107618 RCV001107620 RCV001107623 RCV001104002 RCV001104005 RCV001104007 RCV001104300 RCV001104301 RCV001104304 RCV001107054 RCV001107058 RCV001107721 RCV001107724 RCV001107725 RCV001107142 RCV001102557 RCV001107325 RCV001107329 RCV001102747 RCV001108071 RCV001104783 RCV001105916 RCV001105918 RCV001102950 RCV001104861 RCV001104864 RCV001108246 RCV001108249 RCV001104964 RCV001105167 RCV001106390 RCV001105445 RCV001106591 RCV001105654 RCV001107417 RCV001107527 RCV001103907 RCV001106964 RCV001104086 RCV001104388 RCV001106026 RCV001108765 RCV001108856 RCV001106967 RCV001107626
Cervical cancer	Benign; Likely benign	rs35182583	RCV005907100
COFS syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs2228528, rs2228524, rs2229760, rs2228526, rs2228527, rs4253211, rs4253013, rs2228529, rs139007661, rs61760163, rs4253132, rs145720191, rs4253027, rs148095899, rs55698015 View all (21 more)	RCV000375364 RCV000309121 RCV000346580 RCV000322054 RCV000367801 RCV000403636 RCV000368860 RCV000292311 RCV000358951 RCV000289884 RCV000302397 RCV000397231 RCV000277897 RCV000381521 RCV000358004 RCV000384015 RCV000275700 RCV000316817 RCV000329773 RCV000315496 RCV000383350 RCV000406707 RCV000309810 RCV000355050 RCV000285276 RCV000303153 RCV000396268 RCV000308390 RCV000298112 RCV000351398 RCV000337551 RCV000285728 RCV000376992 RCV000336782 RCV000380950 RCV000326123
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs145720191	RCV005889794
Cone-rod dystrophy	Conflicting classifications of pathogenicity	rs139007661, rs61760163	RCV005625356 RCV005625354
Familial cancer of breast	Conflicting classifications of pathogenicity	rs145720191	RCV005889793
Hereditary breast ovarian cancer syndrome	Conflicting classifications of pathogenicity	rs138758064	RCV001374496
Intellectual disability	Conflicting classifications of pathogenicity	rs139007661, rs61760163, rs61760167, rs146043988	RCV005625357 RCV005625355 RCV005625526 RCV005625527
LUNG CANCER, SUSCEPTIBILITY TO	Benign	rs3793784	RCV000001779
Macular degeneration	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs2228528, rs2228524, rs2229760, rs2228526, rs2228527, rs4253211, rs4253013, rs2228529, rs139007661, rs61760163, rs4253132, rs145720191, rs4253027, rs148095899, rs55698015 View all (21 more)	RCV000278377 RCV000367258 RCV000392253 RCV000378942 RCV000272009 RCV000301693 RCV000271934 RCV000346112 RCV000323987 RCV000384253 RCV000404616 RCV000364521 RCV000369229 RCV000289449 RCV000304579 RCV000273287 RCV000370443 RCV000262917 RCV000388953 RCV000261470 RCV000330020 RCV000344561 RCV000271052 RCV000301242 RCV000322352 RCV000394139 RCV000358701 RCV000393263 RCV000396579 RCV000279963 RCV000386008 RCV000393256 RCV000287159 RCV000281786 RCV000286508 RCV000366090
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs2228526	RCV005888075
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs145720191, rs147637331	RCV005889796 RCV005907555
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs145720191, rs61760166	RCV005889795 RCV005895864
Melanoma	Conflicting classifications of pathogenicity	rs145720191	RCV005889800
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity; Likely benign	rs74944791, rs145720191, rs768505023	RCV005924545 RCV005889799 RCV005926685
Thymoma	Conflicting classifications of pathogenicity	rs115633798	RCV005928548
Uterine carcinosarcoma	Benign; Likely benign	rs2228526, rs35182583	RCV005888076 RCV005907101
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs35756610, rs35182583	RCV005891838 RCV005907102
Uveal melanoma	Conflicting classifications of pathogenicity	rs145720191	RCV005889798

Show/Hide Text Mining Associations (57)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Aging Premature	Associate	25251875
Breast Neoplasms	Associate	37493170
Carcinogenesis	Associate	17854076, 26344056
Carcinoma Basal Cell	Associate	22336945
Cataract Age Related Nuclear	Associate	27231489
Cerebellar Ataxia	Associate	37532514
Cerebrooculofacioskeletal Syndrome 1	Associate	31124294
Cockayne Syndrome	Associate	11443545, 11581270, 11713297, 11809892, 16128801, 16246722, 16601682, 16751180, 17055654, 17854076, 19389114, 20122405, 20181933, 20541997, 21072178 View all (54 more)
Cockayne Syndrome	Stimulate	27004399
Cognition Disorders	Associate	25251875
Colorectal Neoplasms	Associate	26344056, 34045552
Craniocerebral Trauma	Associate	28562347
Demyelinating Autoimmune Diseases CNS	Associate	25251875
Gastritis Atrophic	Associate	24586594, 28562347
Genetic Diseases Inborn	Associate	26030138
Glioblastoma	Associate	11438483
Glioma	Associate	11438483
Hamartoma Syndrome Multiple	Associate	26030138, 28253359, 29057985, 8876179
Head and Neck Neoplasms	Associate	23720401
Heredodegenerative Disorders Nervous System	Associate	23637612
Hypoxia	Associate	32664519, 35455966
Hypoxia Brain	Associate	32664519
Intellectual Disability	Associate	25251875
Leukemia Myeloid Acute	Associate	32868804
Lung Neoplasms	Associate	17854076
Macular Degeneration	Associate	21072178, 31583032
Margins of Excision	Associate	27004399
Melanoma	Associate	23659246
Microcephaly	Associate	25251875
Mitochondrial Diseases	Associate	19389114, 31276581, 31811121
Musculoskeletal Diseases	Associate	31124294
Neoplasms	Inhibit	11438483
Neoplasms	Associate	20470425, 21852235, 24289586, 24289633, 25634215, 28253359, 33806087
Nerve Degeneration	Associate	25820262, 26030138
Nervous System Diseases	Associate	34076366
Neuroblastoma	Stimulate	34576232
Neurocutaneous Syndromes	Associate	35254895
Neurodegenerative Diseases	Associate	24874740
Neurologic Manifestations	Associate	15486090, 25251875, 30032309
Non Muscle Invasive Bladder Neoplasms	Associate	26649138
Oculocerebrorenal Syndrome	Associate	11443545
Organizing Pneumonia	Associate	26030138
Ovarian Diseases	Associate	39595984
Primary Ovarian Insufficiency	Associate	26218421, 33538981, 35975393, 36099812, 39595984
Prostatic Neoplasms	Associate	24289586, 24615090, 32300177
Protein Losing Enteropathies	Associate	31583032
Protein S Deficiency	Associate	19329487, 22466610, 26038566
Renal Insufficiency	Associate	25251875, 26030138
Skin Neoplasms	Associate	22336945
Smoke Inhalation Injury	Associate	23720401
Squamous Cell Carcinoma of Head and Neck	Stimulate	11900225
Stomach Neoplasms	Associate	24289633, 24586594, 27340861, 28562347, 30417012
Tinnitus	Associate	29649050
Urinary Bladder Neoplasms	Associate	20044625, 26649138
UV Sensitive Syndrome	Associate	15486090, 22483866, 26038566, 29057985, 37688320
Werner Syndrome	Associate	26344056
Xeroderma Pigmentosum	Stimulate	27004399

ERCC6 (ERCC excision repair 6, chromatin remodeling factor)