ERCC6 (ERCC excision repair 6, chromatin remodeling factor)

Gene

• Entrez ID: 2074
• Gene name: ERCC excision repair 6, chromatin remodeling factor
• Gene symbol: ERCC6
• Synonyms (NCBI Gene): ARMD5, CKN2, COFS, COFS1, CSB, CSB-PGBD3, POF11, RAD26, UVSS1
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 609413
• HGNC: 3438
• e!Ensembl: ENSG00000225830

Protein

• UniProt ID: 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
• UniProt ID: 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

Pathways

KEGG:

Nucleotide excision repair

Reactome:

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

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cerebrooculofacioskeletal syndrome 1	Pathogenic; Likely pathogenic	rs1439211546, rs1554875114, rs777252763, rs121917901, rs121917902, rs758341467, rs121917904, rs1590413260, rs765825423, rs786205172, rs786205171, rs786205170, rs4253196, rs774791374, rs767247987, rs368728467, rs875989810, rs2496175399, rs1213371362, rs2495996016, rs185142838, rs376526037, rs906755254, rs1554793305, rs1554873950, rs1386369933, rs1554875522, rs1554787554, rs768608345, rs1198241866, rs1198472093, rs1554794620, rs766980240, rs1554875154, rs1554875287, rs1554787509, rs1441655600, rs1026438103, rs1554794073, rs1554794641, rs1554874073, rs1287286877, rs751448793, rs1362935450, rs771781694, rs1554794360, rs1554873973, rs1554875155, rs1228919836, rs1554789393, rs1554793174, rs1554793270, rs1254008304, rs1554794640, rs577021605, rs1850765501	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic; Pathogenic	rs754978734	RCV005901449	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cockayne spectrum with or without cerebrooculofacioskeletal syndrome	Likely pathogenic; Pathogenic	rs371739894, rs1338061432, rs766980240	RCV005361058 RCV005637023 RCV005632586	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cockayne syndrome	Likely pathogenic; Pathogenic	rs2132639937, rs121917903, rs765825423, rs786205171, rs4253196, rs151242354, rs767247987, rs371739894, rs368728467, rs2495943651, rs1554875536, rs1441655600, rs754978734, rs771781694, rs577021605, rs1590406503, rs780538788, rs1272960343	RCV003226489 RCV003230340 RCV002271445 RCV003114321 RCV002271444 RCV002271443 RCV003491926 RCV001280930 RCV001844081 RCV003226631 RCV005418228 RCV005056413 RCV003987654 RCV004800516 RCV004579558 RCV002469293 RCV002469337 RCV003155345	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cockayne syndrome type 2	Likely pathogenic; Pathogenic	rs2132544294, rs527236039, rs2132621608, rs121917900, rs121917901, rs121917902, rs387906262, rs2132552521, rs121917903, rs1590474873, rs121917904, rs2496166571, rs2495984631, rs143502251, rs2496009170, rs2496138250, rs2495984647, rs2496033437, rs2496008991, rs2495971838, rs2496138686, rs746159424, rs2495971782, rs2496033253, rs2496006701, rs2495971341, rs2495970325, rs2496137655, rs2496141694, rs755905226, rs2496139138, rs2495972945, rs2496006893, rs2496138678, rs2496167334, rs2495971159, rs2496032960, rs2495974647, rs2496140099, rs2496138663, rs2495971049, rs2496009062, rs754025384, rs2495970791, rs2496137948, rs1226553506, rs2496007406, rs2495980573, rs2496064359, rs2495970774, rs2496006798, rs2495990647, rs2495978266, rs2495982918, rs144445150, rs786205175, rs765825423, rs786205174, rs786205173, rs786205172, rs786205171, rs786205170, rs373227647, rs4253196, rs151242354, rs774791374, rs202080674, rs786205169, rs767247987, rs786205167, rs371739894, rs786205168, rs786205166, rs1554794360, rs368728467, rs797045562, rs751838040, rs875989810, rs2496175399, rs2470129871, rs2495990583, rs747903426, rs185142838, rs772801089, rs751292948, rs1554875536, rs906755254, rs1554873950, rs1386369933, rs1554875114, rs1554875522, rs1554787554, rs768608345, rs1198241866, rs1198472093, rs1554794620, rs766980240, rs1554875154, rs1554875287, rs1554787509, rs1441655600, rs1026438103, rs1554794073, rs1554794641, rs1554874073, rs1287286877, rs751448793, rs754978734, rs1362935450, rs771781694, rs1554873973, rs1554875155, rs1228919836, rs1554789393, rs1554793174, rs1554793270, rs1254008304, rs1554794640, rs577021605, rs1564725764, rs1010201937, rs1850765501, rs780538788, rs1851015811, rs774175886, rs1850531575, rs1837448977, rs1850747928, rs1850750513, rs2228527, rs1850753467, rs1850754584, rs1286402535, rs1850757159, rs1850759141, rs1850766086, rs1850769140, rs1850770605, rs1850797541, rs1283213117, rs1850831525, rs1850832063, rs1850832795, rs1850874595, rs1850916835, rs961060711, rs768188064, rs1851434105, rs1837393519	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DE SANCTIS-CACCHIONE SYNDROME	Pathogenic; Likely pathogenic	rs121917901, rs121917902, rs121917904, rs765825423, rs786205172, rs786205171, rs786205170, rs373227647, rs4253196, rs151242354, rs774791374, rs767247987, rs371739894, rs368728467, rs751838040, rs875989810, rs2496175399, rs2496139686, rs185142838, rs376526037, rs906755254, rs1554873950, rs1386369933, rs1554875114, rs1554875522, rs1554787554, rs768608345, rs1198241866, rs1198472093, rs1554794620, rs766980240, rs1554875154, rs1554875287, rs1554787509, rs1441655600, rs1026438103, rs1554794073, rs1554794641, rs1554874073, rs1287286877, rs751448793, rs1362935450, rs771781694, rs1554794360, rs1554873973, rs1554875155, rs1228919836, rs1554789393, rs1554793174, rs1554793270, rs1254008304, rs1554794640, rs577021605, rs1250248245, rs1307714476, rs1850765501	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric cancer	Pathogenic	rs1362935450	RCV005912650	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Genetic non-acquired premature ovarian failure	Pathogenic	rs866374385	RCV001663370	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian failure 11	Pathogenic	rs878854403, rs875989810	RCV000211123 RCV000211122	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
UV-sensitive syndrome 1	Pathogenic	rs121917903	RCV000001777	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Age related macular degeneration 5	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS MULTIPLEX CONGENITA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRO-OCULO-FACIO-SKELETAL SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COCKAYNE SYNDROME B	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COCKAYNE SYNDROME TYPE 1	—	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
COFS syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet, Orphanet Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-rod dystrophy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING IMPAIRMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER, SUSCEPTIBILITY TO	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular degeneration	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MACULAR DEGENERATION, AGE-RELATED, 5	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMOS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOMOTOR DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UV-SENSITIVE SYNDROME	—	CTD, Disgenet, GenCC, Orphanet CTD, Disgenet, GenCC, Orphanet CTD, Disgenet, GenCC, Orphanet CTD, Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	16754848, 21072178, 23202958		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	LHGDN	16754848		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	CTD_human_DG	16754848		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anhidrosis	Anhidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	CTD_human_DG	18628313		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29411336		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	16537713, 17728339, 20044625, 25089939, 27791261		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16399771, 18767034, 28731186		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37493170	Associate	★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	17854076, 26344056	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	22336945	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	16537713, 17728339, 20044625, 25089939, 27791261		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	19444904		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10910954, 17854076, 18789574		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	22336945		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	CTD_human_DG	18628313		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	37532514	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrooculofacioskeletal Syndrome 1	Cerebrooculofacioskeletal Syndrome	BEFREE	10739753, 11443545, 18628313, 20456449		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebrooculofacioskeletal Syndrome 1	Cerebrooculofacioskeletal Syndrome	CLINVAR_DG	11809892, 18784753, 19894250, 21143350, 25356239, 26218421, 26620705, 27004399, 27186691, 9443879		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebrooculofacioskeletal Syndrome 1	Cerebrooculofacioskeletal Syndrome	UNIPROT_DG	19894250		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebrooculofacioskeletal Syndrome 1	Cerebrooculofacioskeletal syndrome	Pubtator	31124294	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebrooculofacioskeletal Syndrome 1	Cerebrooculofacioskeletal Syndrome	GENOMICS_ENGLAND_DG	7264357		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebrooculofacioskeletal Syndrome 1	Cerebrooculofacioskeletal Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	10196384, 10564257, 10739753, 10767341, 10786832, 11443545, 11713297, 11809892, 12483520, 12606941, 12665480, 1339317, 14639525, 14726016, 15340056, 15486090, 16107709, 16128801, 16246722, 16701013, 16751180, 16772382, 17055654, 17084038, 18183039, 18369450, 18541289, 18656484, 19580815, 19894250, 20100872, 20122405, 21059811, 21072178, 21477668, 21622031, 21852235, 22032989, 22466612, 22483866, 22661500, 22902626, 23311583, 23369858, 23562423, 23571135, 23591128, 23622385, 23623389, 23637612, 25249633, 25376329, 25463447, 26749132, 26755826, 27186691, 27231489, 27507608, 28440418, 29225035, 29625109, 29649050, 29788264, 30113454, 30504782, 31037510, 31546172, 31644904, 31722399, 31811121, 8382798, 8811084, 9118967, 9150142, 9288107, 9312053, 9443879, 9565609, 9685618		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cockayne Syndrome	Cockayne Syndrome	CTD_human_DG	10739753, 10767341, 22466610, 22466612, 25440059, 26972010, 9443879		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cockayne Syndrome	Cockayne syndrome	Pubtator	11443545, 11581270, 11713297, 11809892, 16128801, 16246722, 16601682, 16751180, 17055654, 17854076, 19389114, 20122405, 20181933, 20541997, 21072178, 21438118, 21852235, 22466610, 22483866, 22661500, 22743267, 23623389, 23637612, 24406253, 24743307, 24781187, 24874740, 25376329, 25463447, 25820262, 26038566, 26578602, 26755826, 28333167, 28440418, 29225035, 29422660, 29649050, 30032309, 30200888, 30504782, 30753618, 31276581, 31558084, 31811121, 31970402, 31980658, 32664519, 32690696, 33904453, 34076366, 34096589, 34203326, 34271225, 34581821, 34853308, 34946871, 35248096, 35254895, 35748794, 35802638, 36791574, 37532514, 37688320, 38600235, 39187681, 39209536, 9278484, 9312053, 9372911, 9973627	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cockayne Syndrome	Cockayne Syndrome	LHGDN	11809892, 12095617, 16246722, 16601682, 16751180, 16772382, 16916636, 17567611, 18656484		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cockayne Syndrome	Cockayne Syndrome	GENOMICS_ENGLAND_DG	25655951, 7063265		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cockayne Syndrome	Cockayne syndrome	Pubtator	27004399	Stimulate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cockayne Syndrome	Cockayne Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cockayne syndrome type 1	Cockayne Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cockayne syndrome type 2	Cockayne Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cockayne syndrome type 3	Cockayne Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cockayne Syndrome, Type I	Cockayne Syndrome	CTD_human_DG	10739753, 10767341, 22466610, 22466612, 25440059, 26972010, 9443879		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cockayne Syndrome, Type I	Cockayne Syndrome	BEFREE	15340056, 16751180, 17084038, 17981804, 19309286, 20215648, 22383384, 23571135, 23637612, 24781187, 9312053		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cockayne Syndrome, Type II	Cockayne Syndrome	UNIPROT_DG	10447254, 19894250, 25820262, 29203878, 9443879		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cockayne Syndrome, Type II	Cockayne Syndrome	CTD_human_DG	10739753, 10767341, 22466610, 22466612, 25440059, 26972010, 9443879		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cockayne Syndrome, Type II	Cockayne Syndrome	CLINVAR_DG	11809892, 18784753, 19894250, 21143350, 25356239, 26218421, 26620705, 27004399, 27186691, 9443879		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cockayne Syndrome, Type II	Cockayne Syndrome	BEFREE	16492920, 16900932, 18446857, 19309286, 20456449, 20541997, 22483866, 23028371, 26173784, 28440418, 29168508, 30753618, 8382798, 8811084		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cockayne Syndrome, Type II	Cockayne Syndrome	GENOMICS_ENGLAND_DG	26749132, 7063265, 7264357		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cockayne Syndrome, Type III	Cockayne Syndrome	CTD_human_DG	10739753, 10767341, 22466610, 22466612, 25440059, 26972010, 9443879		★☆☆☆☆ Found in Text Mining only
COFS syndrome	COFS Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cognition Disorders	Cognition disorder	Pubtator	25251875	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28665687		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17119055, 28665687		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26344056, 34045552	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29411336		★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cortical cataract	Cortical cataract	BEFREE	23028371		★☆☆☆☆ Found in Text Mining only
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	28562347	Associate	★☆☆☆☆ Found in Text Mining only
CRANIOSYNOSTOSIS, TYPE 2	Craniosynostosis	BEFREE	16492920, 20541997, 23028371, 26173784		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
De Sanctis-Cacchione syndrome	De Sanctis-Cacchione Syndrome	CTD_human_DG	10767341		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
De Sanctis-Cacchione syndrome	De Sanctis-Cacchione Syndrome	CLINVAR_DG	11809892, 18628313, 18784753, 19894250, 21143350, 21228398, 23311583, 25356239, 26218421, 26620705, 27004399, 27186691, 27356891, 28440418, 29572252, 9443879		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
De Sanctis-Cacchione syndrome	De Sanctis-Cacchione Syndrome	GENOMICS_ENGLAND_DG	26749132, 7063265, 7264357		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental Psychomotor Disorders	Psychomotor Disorders	CTD_human_DG	18628313		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	23982724		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	23311583		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10767341, 1372469, 18628313, 19894250, 23428416, 26204423, 26749132		★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	31373346		★☆☆☆☆ Found in Text Mining only
Entropion	Entropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	24586594, 28562347	Associate	★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	24586594, 28562347		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	11438483	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	11438483	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	16754848		★☆☆☆☆ Found in Text Mining only
Gonadal hypoplasia	Gonadal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	23028371		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	23720401		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	23720401	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	21566259		★☆☆☆☆ 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
Hypersexuality state	Hypersexuality	BEFREE	29281592		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of iris	Hypoplasia Of Iris	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 + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	25251875	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratitis	Keratitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	32868804	Associate	★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	23311583		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	17933579		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24383128		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17854076, 17855454, 18789574		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	17854076		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	17854076	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular Degeneration	Macular degeneration	Pubtator	21072178, 31583032	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MACULAR DEGENERATION, AGE-RELATED, 5	Age-Related Macular Degeneration	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION, AGE-RELATED, 5	Age-Related Macular Degeneration	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION, AGE-RELATED, 5	Age-Related Macular Degeneration	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	23720401		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16399771, 18767034, 28731186		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	19444904		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10910954, 17854076, 18789574		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	17854076		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	17933579		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24289586, 24615090		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	9150142		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24289633, 24586594, 28562347, 30417012		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	16537713, 17728339, 20044625, 25089939, 27791261		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11713576, 17854076, 17933579, 19221478, 23419237, 24289586, 7678143		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28665687		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	12095617		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23659246	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	CTD_human_DG	10739753, 18628313		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	BEFREE	25251875, 26749132		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	Pubtator	25251875	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microlissencephaly	Microlissencephaly	CTD_human_DG	10739753, 18628313		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	CTD_human_DG	10739753		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	19389114, 31276581, 31811121	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth Neoplasms	LHGDN	17933579		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	10767341, 1372469, 18628313, 19894250, 23428416, 26204423, 26749132		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	30861523, 31667665		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25634215, 26649138		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	34076366	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	23311583, 31546172		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	27791127		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	34576232	Stimulate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	24874740	Associate	★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Primary ovarian failure	Ovarian Failure	Orphanet			★☆☆☆☆ Found in Text Mining only
Nuclear cataract	Cataract	BEFREE	27231489		★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	BEFREE	27231489		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	11443545	Associate	★☆☆☆☆ Found in Text Mining only
Olivopontocerebellar Atrophies	Olivopontocerebellar Atrophies	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	39595984	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	26218421		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Poikiloderma	Poikiloderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	12483520, 22661500, 23637612		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	CTD_human_DG	25440059		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	26218421		★☆☆☆☆ Found in Text Mining only
PREMATURE OVARIAN FAILURE 11	Premature Ovarian Failure	UNIPROT_DG	26218421		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PREMATURE OVARIAN FAILURE 11	Premature Ovarian Failure	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PREMATURE OVARIAN FAILURE 11	Premature Ovarian Failure	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progeria	Progeria	BEFREE	25251875		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24289586, 24615090		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24289586, 24615090, 32300177	Associate	★☆☆☆☆ Found in Text Mining only
Pseudoaphakia	Cataract	CTD_human_DG	18628313		★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychomotor Disorders	CTD_human_DG	18628313		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe Congenital Microcephaly	Congenital Microcephaly	CTD_human_DG	10739753, 18628313		★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	22336945		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	22336945	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	BEFREE	23571135, 24781187		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	11900225	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	11900225		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24289633, 24586594, 28562347, 30417012		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24289633, 24586594, 27340861, 28562347, 30417012	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	18628313		★☆☆☆☆ Found in Text Mining only
Trichothiodystrophy Syndromes	Trichothiodystrophy	BEFREE	14726016		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	20044625, 26649138	Associate	★☆☆☆☆ Found in Text Mining only
UV-Sensitive Syndrome	UV-Sensitive Syndrome	BEFREE	15486090, 22466610, 22466612, 22483866, 29625109		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UV-Sensitive Syndrome	UV-Sensitive Syndrome	ORPHANET_DG	15486090		★★☆☆☆ 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, 7063265		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UV-Sensitive Syndrome	UV-Sensitive Syndrome	CTD_human_DG	26972010		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UV-SENSITIVE SYNDROME 1	UV-Sensitive Syndrome	GENOMICS_ENGLAND_DG	26749132, 7063265		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
UV-SENSITIVE SYNDROME 1	UV-Sensitive Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vertical Talus	Vertical Talus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	26344056	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	10767341, 16315091, 27507608, 8566949		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	27004399	Stimulate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum	BEFREE	23202958		★☆☆☆☆ Found in Text Mining only