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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2072
Gene name	ERCC excision repair 4, endonuclease catalytic subunit
Gene symbol	ERCC4
Synonyms (NCBI Gene)	ERCC11FANCQRAD1XFEPSXPF
Chromosome	16
Chromosome location	16p13.12
Summary	The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5` incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1799802	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs121913049	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs121913050	G>A,C,T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant
rs147105770	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs149364215	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs397509400	CTCAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs397509401	->CTTACACTTCACTTCCCCAGACTACGGA	Pathogenic	Frameshift variant, coding sequence variant
rs397509402	T>C	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs397509403	T>C	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs397509404	->A	Pathogenic	Coding sequence variant, stop gained
rs772432152	A>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, upstream transcript variant
rs869025184	TCTC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057520104	T>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs1555468482	C>-	Pathogenic	Stop gained, coding sequence variant

471

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miRTarBase ID	miRNA	Experiments	Reference
MIRT006456	hsa-miR-192-5p	Luciferase reporter assayqRT-PCRWestern blot	21672525
MIRT006456	hsa-miR-192-5p	Luciferase reporter assayqRT-PCRWestern blot	21672525
MIRT006456	hsa-miR-192-5p	Luciferase reporter assayqRT-PCRWestern blot	21672525
MIRT006456	hsa-miR-192-5p	Luciferase reporter assayqRT-PCRWestern blot	21672525
MIRT006456	hsa-miR-192-5p	Luciferase reporter assayqRT-PCRWestern blot	21672525
MIRT006456	hsa-miR-192-5p	Luciferase reporter assayqRT-PCRWestern blot	21672525
MIRT006456	hsa-miR-192-5p	Microarray	19074876
MIRT073811	hsa-miR-4499	PAR-CLIP	21572407
MIRT504575	hsa-miR-455-5p	PAR-CLIP	21572407
MIRT073810	hsa-miR-4461	PAR-CLIP	21572407
MIRT544923	hsa-miR-873-3p	PAR-CLIP	21572407
MIRT504574	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT504573	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT504572	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT504571	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT504570	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT073803	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT073804	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT073805	hsa-miR-580-3p	PAR-CLIP	21572407
MIRT073816	hsa-miR-548aw	PAR-CLIP	21572407
MIRT073807	hsa-miR-4263	PAR-CLIP	21572407
MIRT073811	hsa-miR-4499	PAR-CLIP	21572407
MIRT504575	hsa-miR-455-5p	PAR-CLIP	21572407
MIRT073810	hsa-miR-4461	PAR-CLIP	21572407
MIRT073809	hsa-miR-4427	PAR-CLIP	21572407
MIRT544923	hsa-miR-873-3p	PAR-CLIP	21572407
MIRT504574	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT504573	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT504572	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT504571	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT504570	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT073803	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT073804	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT073805	hsa-miR-580-3p	PAR-CLIP	21572407
MIRT073816	hsa-miR-548aw	PAR-CLIP	21572407
MIRT073807	hsa-miR-4263	PAR-CLIP	21572407
MIRT073811	hsa-miR-4499	PAR-CLIP	23446348
MIRT504575	hsa-miR-455-5p	PAR-CLIP	23446348
MIRT073810	hsa-miR-4461	PAR-CLIP	23446348
MIRT073809	hsa-miR-4427	PAR-CLIP	23446348
MIRT504574	hsa-miR-548aj-5p	PAR-CLIP	23446348
MIRT504573	hsa-miR-548f-5p	PAR-CLIP	23446348
MIRT504572	hsa-miR-548g-5p	PAR-CLIP	23446348
MIRT504571	hsa-miR-548x-5p	PAR-CLIP	23446348
MIRT504570	hsa-miR-1468-3p	PAR-CLIP	23446348
MIRT073803	hsa-miR-19a-3p	PAR-CLIP	23446348
MIRT073804	hsa-miR-19b-3p	PAR-CLIP	23446348
MIRT073805	hsa-miR-580-3p	PAR-CLIP	23446348
MIRT073816	hsa-miR-548aw	PAR-CLIP	23446348
MIRT073807	hsa-miR-4263	PAR-CLIP	23446348
MIRT073811	hsa-miR-4499	PAR-CLIP	21572407
MIRT504575	hsa-miR-455-5p	PAR-CLIP	21572407
MIRT073810	hsa-miR-4461	PAR-CLIP	21572407
MIRT544923	hsa-miR-873-3p	PAR-CLIP	21572407
MIRT504574	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT504573	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT504572	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT504571	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT504570	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT073803	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT073804	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT073805	hsa-miR-580-3p	PAR-CLIP	21572407
MIRT073816	hsa-miR-548aw	PAR-CLIP	21572407
MIRT073807	hsa-miR-4263	PAR-CLIP	21572407
MIRT073811	hsa-miR-4499	PAR-CLIP	21572407
MIRT504575	hsa-miR-455-5p	PAR-CLIP	21572407
MIRT073810	hsa-miR-4461	PAR-CLIP	21572407
MIRT073809	hsa-miR-4427	PAR-CLIP	21572407
MIRT544923	hsa-miR-873-3p	PAR-CLIP	21572407
MIRT504574	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT504573	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT504572	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT504571	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT504570	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT073803	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT073804	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT073805	hsa-miR-580-3p	PAR-CLIP	21572407
MIRT073816	hsa-miR-548aw	PAR-CLIP	21572407
MIRT073807	hsa-miR-4263	PAR-CLIP	21572407
MIRT073811	hsa-miR-4499	PAR-CLIP	23446348
MIRT504575	hsa-miR-455-5p	PAR-CLIP	23446348
MIRT073810	hsa-miR-4461	PAR-CLIP	23446348
MIRT073809	hsa-miR-4427	PAR-CLIP	23446348
MIRT504574	hsa-miR-548aj-5p	PAR-CLIP	23446348
MIRT504573	hsa-miR-548f-5p	PAR-CLIP	23446348
MIRT504572	hsa-miR-548g-5p	PAR-CLIP	23446348
MIRT504571	hsa-miR-548x-5p	PAR-CLIP	23446348
MIRT504570	hsa-miR-1468-3p	PAR-CLIP	23446348
MIRT073803	hsa-miR-19a-3p	PAR-CLIP	23446348
MIRT073804	hsa-miR-19b-3p	PAR-CLIP	23446348
MIRT073805	hsa-miR-580-3p	PAR-CLIP	23446348
MIRT073816	hsa-miR-548aw	PAR-CLIP	23446348
MIRT073807	hsa-miR-4263	PAR-CLIP	23446348
MIRT968400	hsa-miR-1207-3p	CLIP-seq
MIRT968401	hsa-miR-1207-5p	CLIP-seq
MIRT968402	hsa-miR-1228	CLIP-seq
MIRT968403	hsa-miR-1244	CLIP-seq
MIRT968404	hsa-miR-125a-3p	CLIP-seq
MIRT968405	hsa-miR-1262	CLIP-seq
MIRT968406	hsa-miR-1273e	CLIP-seq
MIRT968407	hsa-miR-1285	CLIP-seq
MIRT968408	hsa-miR-1293	CLIP-seq
MIRT968409	hsa-miR-146a	CLIP-seq
MIRT968410	hsa-miR-146b-5p	CLIP-seq
MIRT968411	hsa-miR-1909	CLIP-seq
MIRT968412	hsa-miR-199a-3p	CLIP-seq
MIRT968413	hsa-miR-199b-3p	CLIP-seq
MIRT968414	hsa-miR-205	CLIP-seq
MIRT968415	hsa-miR-300	CLIP-seq
MIRT968416	hsa-miR-3120-5p	CLIP-seq
MIRT968417	hsa-miR-3121-3p	CLIP-seq
MIRT968418	hsa-miR-3125	CLIP-seq
MIRT968419	hsa-miR-3129-5p	CLIP-seq
MIRT968420	hsa-miR-3144-3p	CLIP-seq
MIRT968421	hsa-miR-3145-3p	CLIP-seq
MIRT968422	hsa-miR-3147	CLIP-seq
MIRT968423	hsa-miR-3148	CLIP-seq
MIRT968424	hsa-miR-3162-5p	CLIP-seq
MIRT968425	hsa-miR-3187-5p	CLIP-seq
MIRT968426	hsa-miR-323-5p	CLIP-seq
MIRT968427	hsa-miR-342-5p	CLIP-seq
MIRT968428	hsa-miR-3607-3p	CLIP-seq
MIRT968429	hsa-miR-3613-3p	CLIP-seq
MIRT968430	hsa-miR-3622a-3p	CLIP-seq
MIRT968431	hsa-miR-3622b-3p	CLIP-seq
MIRT968432	hsa-miR-3664-5p	CLIP-seq
MIRT968433	hsa-miR-3665	CLIP-seq
MIRT968434	hsa-miR-3672	CLIP-seq
MIRT968435	hsa-miR-3686	CLIP-seq
MIRT968436	hsa-miR-371-5p	CLIP-seq
MIRT968437	hsa-miR-371b-5p	CLIP-seq
MIRT968438	hsa-miR-378	CLIP-seq
MIRT968439	hsa-miR-378b	CLIP-seq
MIRT968440	hsa-miR-378c	CLIP-seq
MIRT968441	hsa-miR-378d	CLIP-seq
MIRT968442	hsa-miR-378e	CLIP-seq
MIRT968443	hsa-miR-378f	CLIP-seq
MIRT968444	hsa-miR-378h	CLIP-seq
MIRT968445	hsa-miR-378i	CLIP-seq
MIRT968446	hsa-miR-381	CLIP-seq
MIRT968447	hsa-miR-3915	CLIP-seq
MIRT968448	hsa-miR-3916	CLIP-seq
MIRT968449	hsa-miR-3921	CLIP-seq
MIRT968450	hsa-miR-3926	CLIP-seq
MIRT968451	hsa-miR-3928	CLIP-seq
MIRT968452	hsa-miR-422a	CLIP-seq
MIRT968453	hsa-miR-4252	CLIP-seq
MIRT968454	hsa-miR-4266	CLIP-seq
MIRT968455	hsa-miR-4299	CLIP-seq
MIRT968456	hsa-miR-4419a	CLIP-seq
MIRT968457	hsa-miR-4425	CLIP-seq
MIRT968458	hsa-miR-4448	CLIP-seq
MIRT968459	hsa-miR-4456	CLIP-seq
MIRT968460	hsa-miR-4466	CLIP-seq
MIRT968461	hsa-miR-4483	CLIP-seq
MIRT968462	hsa-miR-4510	CLIP-seq
MIRT968463	hsa-miR-4514	CLIP-seq
MIRT968464	hsa-miR-4522	CLIP-seq
MIRT968465	hsa-miR-4530	CLIP-seq
MIRT968466	hsa-miR-4537	CLIP-seq
MIRT968467	hsa-miR-4645-5p	CLIP-seq
MIRT968468	hsa-miR-4653-5p	CLIP-seq
MIRT968469	hsa-miR-4664-5p	CLIP-seq
MIRT968470	hsa-miR-4666-3p	CLIP-seq
MIRT968471	hsa-miR-4673	CLIP-seq
MIRT968472	hsa-miR-4676-5p	CLIP-seq
MIRT968473	hsa-miR-4684-5p	CLIP-seq
MIRT968474	hsa-miR-4692	CLIP-seq
MIRT968475	hsa-miR-4701-3p	CLIP-seq
MIRT968476	hsa-miR-4732-5p	CLIP-seq
MIRT968477	hsa-miR-4736	CLIP-seq
MIRT968478	hsa-miR-4746-3p	CLIP-seq
MIRT968479	hsa-miR-4760-3p	CLIP-seq
MIRT968480	hsa-miR-4763-3p	CLIP-seq
MIRT968481	hsa-miR-4775	CLIP-seq
MIRT968482	hsa-miR-4786-5p	CLIP-seq
MIRT968483	hsa-miR-4789-5p	CLIP-seq
MIRT968484	hsa-miR-4792	CLIP-seq
MIRT968485	hsa-miR-4793-3p	CLIP-seq
MIRT968486	hsa-miR-483-3p	CLIP-seq
MIRT968487	hsa-miR-508-5p	CLIP-seq
MIRT968488	hsa-miR-513a-5p	CLIP-seq
MIRT968489	hsa-miR-544b	CLIP-seq
MIRT968490	hsa-miR-548ae	CLIP-seq
MIRT968491	hsa-miR-548aj	CLIP-seq
MIRT968492	hsa-miR-548am	CLIP-seq
MIRT968493	hsa-miR-548c-3p	CLIP-seq
MIRT968494	hsa-miR-548q	CLIP-seq
MIRT968495	hsa-miR-548s	CLIP-seq
MIRT968496	hsa-miR-548x	CLIP-seq
MIRT968497	hsa-miR-575	CLIP-seq
MIRT968498	hsa-miR-579	CLIP-seq
MIRT968499	hsa-miR-581	CLIP-seq
MIRT968500	hsa-miR-590-3p	CLIP-seq
MIRT968501	hsa-miR-612	CLIP-seq
MIRT968502	hsa-miR-654-3p	CLIP-seq
MIRT968503	hsa-miR-661	CLIP-seq
MIRT968504	hsa-miR-664	CLIP-seq
MIRT968505	hsa-miR-675	CLIP-seq
MIRT968506	hsa-miR-766	CLIP-seq
MIRT968507	hsa-miR-769-5p	CLIP-seq
MIRT968508	hsa-miR-876-3p	CLIP-seq
MIRT968509	hsa-miR-935	CLIP-seq
MIRT968510	hsa-miR-936	CLIP-seq
MIRT968511	hsa-miR-940	CLIP-seq
MIRT968423	hsa-miR-3148	CLIP-seq
MIRT968401	hsa-miR-1207-5p	CLIP-seq
MIRT968403	hsa-miR-1244	CLIP-seq
MIRT1987030	hsa-miR-1270	CLIP-seq
MIRT968407	hsa-miR-1285	CLIP-seq
MIRT968408	hsa-miR-1293	CLIP-seq
MIRT1987031	hsa-miR-185	CLIP-seq
MIRT968411	hsa-miR-1909	CLIP-seq
MIRT968412	hsa-miR-199a-3p	CLIP-seq
MIRT968413	hsa-miR-199b-3p	CLIP-seq
MIRT968415	hsa-miR-300	CLIP-seq
MIRT1987032	hsa-miR-3065-3p	CLIP-seq
MIRT1987033	hsa-miR-3120-3p	CLIP-seq
MIRT968416	hsa-miR-3120-5p	CLIP-seq
MIRT1987034	hsa-miR-3122	CLIP-seq
MIRT968419	hsa-miR-3129-5p	CLIP-seq
MIRT1987035	hsa-miR-3133	CLIP-seq
MIRT1987036	hsa-miR-3145-5p	CLIP-seq
MIRT1987037	hsa-miR-3161	CLIP-seq
MIRT1987038	hsa-miR-3165	CLIP-seq
MIRT968425	hsa-miR-3187-5p	CLIP-seq
MIRT1987039	hsa-miR-335	CLIP-seq
MIRT968427	hsa-miR-342-5p	CLIP-seq
MIRT968430	hsa-miR-3622a-3p	CLIP-seq
MIRT968431	hsa-miR-3622b-3p	CLIP-seq
MIRT968432	hsa-miR-3664-5p	CLIP-seq
MIRT968434	hsa-miR-3672	CLIP-seq
MIRT1987040	hsa-miR-3685	CLIP-seq
MIRT1987041	hsa-miR-3689a-3p	CLIP-seq
MIRT1987042	hsa-miR-3689c	CLIP-seq
MIRT1987043	hsa-miR-369-3p	CLIP-seq
MIRT1987044	hsa-miR-374a	CLIP-seq
MIRT1987045	hsa-miR-374b	CLIP-seq
MIRT968446	hsa-miR-381	CLIP-seq
MIRT1987046	hsa-miR-384	CLIP-seq
MIRT1987047	hsa-miR-3913-5p	CLIP-seq
MIRT968450	hsa-miR-3926	CLIP-seq
MIRT968453	hsa-miR-4252	CLIP-seq
MIRT1987048	hsa-miR-4284	CLIP-seq
MIRT1987049	hsa-miR-4306	CLIP-seq
MIRT1987050	hsa-miR-4321	CLIP-seq
MIRT968456	hsa-miR-4419a	CLIP-seq
MIRT968461	hsa-miR-4483	CLIP-seq
MIRT968462	hsa-miR-4510	CLIP-seq
MIRT968463	hsa-miR-4514	CLIP-seq
MIRT968464	hsa-miR-4522	CLIP-seq
MIRT1987051	hsa-miR-4528	CLIP-seq
MIRT1987052	hsa-miR-4531	CLIP-seq
MIRT968466	hsa-miR-4537	CLIP-seq
MIRT1987053	hsa-miR-4644	CLIP-seq
MIRT968467	hsa-miR-4645-5p	CLIP-seq
MIRT968469	hsa-miR-4664-5p	CLIP-seq
MIRT968471	hsa-miR-4673	CLIP-seq
MIRT968474	hsa-miR-4692	CLIP-seq
MIRT1987054	hsa-miR-4709-3p	CLIP-seq
MIRT1987055	hsa-miR-4728-5p	CLIP-seq
MIRT968478	hsa-miR-4746-3p	CLIP-seq
MIRT1987056	hsa-miR-4761-5p	CLIP-seq
MIRT968480	hsa-miR-4763-3p	CLIP-seq
MIRT1987057	hsa-miR-4773	CLIP-seq
MIRT968481	hsa-miR-4775	CLIP-seq
MIRT968482	hsa-miR-4786-5p	CLIP-seq
MIRT968485	hsa-miR-4793-3p	CLIP-seq
MIRT1987058	hsa-miR-4796-5p	CLIP-seq
MIRT1987059	hsa-miR-499-5p	CLIP-seq
MIRT968487	hsa-miR-508-5p	CLIP-seq
MIRT1987060	hsa-miR-513a-3p	CLIP-seq
MIRT968489	hsa-miR-544b	CLIP-seq
MIRT1987061	hsa-miR-545	CLIP-seq
MIRT968495	hsa-miR-548s	CLIP-seq
MIRT1987062	hsa-miR-563	CLIP-seq
MIRT968500	hsa-miR-590-3p	CLIP-seq
MIRT968501	hsa-miR-612	CLIP-seq
MIRT1987063	hsa-miR-620	CLIP-seq
MIRT968503	hsa-miR-661	CLIP-seq
MIRT968506	hsa-miR-766	CLIP-seq
MIRT968507	hsa-miR-769-5p	CLIP-seq
MIRT1987064	hsa-miR-889	CLIP-seq
MIRT968510	hsa-miR-936	CLIP-seq
MIRT968511	hsa-miR-940	CLIP-seq
MIRT968403	hsa-miR-1244	CLIP-seq
MIRT968404	hsa-miR-125a-3p	CLIP-seq
MIRT2221442	hsa-miR-1276	CLIP-seq
MIRT968407	hsa-miR-1285	CLIP-seq
MIRT968408	hsa-miR-1293	CLIP-seq
MIRT968412	hsa-miR-199a-3p	CLIP-seq
MIRT968413	hsa-miR-199b-3p	CLIP-seq
MIRT2221443	hsa-miR-217	CLIP-seq
MIRT2221444	hsa-miR-2278	CLIP-seq
MIRT2221445	hsa-miR-298	CLIP-seq
MIRT1987032	hsa-miR-3065-3p	CLIP-seq
MIRT1987033	hsa-miR-3120-3p	CLIP-seq
MIRT1987034	hsa-miR-3122	CLIP-seq
MIRT968419	hsa-miR-3129-5p	CLIP-seq
MIRT1987038	hsa-miR-3165	CLIP-seq
MIRT2221446	hsa-miR-3166	CLIP-seq
MIRT968425	hsa-miR-3187-5p	CLIP-seq
MIRT2221447	hsa-miR-338-3p	CLIP-seq
MIRT968430	hsa-miR-3622a-3p	CLIP-seq
MIRT968431	hsa-miR-3622b-3p	CLIP-seq
MIRT2221448	hsa-miR-3622b-5p	CLIP-seq
MIRT968433	hsa-miR-3665	CLIP-seq
MIRT968434	hsa-miR-3672	CLIP-seq
MIRT1987041	hsa-miR-3689a-3p	CLIP-seq
MIRT1987042	hsa-miR-3689c	CLIP-seq
MIRT968436	hsa-miR-371-5p	CLIP-seq
MIRT1987047	hsa-miR-3913-5p	CLIP-seq
MIRT968447	hsa-miR-3915	CLIP-seq
MIRT2221449	hsa-miR-410	CLIP-seq
MIRT968453	hsa-miR-4252	CLIP-seq
MIRT2221450	hsa-miR-4269	CLIP-seq
MIRT1987048	hsa-miR-4284	CLIP-seq
MIRT2221451	hsa-miR-4326	CLIP-seq
MIRT968456	hsa-miR-4419a	CLIP-seq
MIRT2221452	hsa-miR-4438	CLIP-seq
MIRT968460	hsa-miR-4466	CLIP-seq
MIRT2221453	hsa-miR-4476	CLIP-seq
MIRT968461	hsa-miR-4483	CLIP-seq
MIRT968462	hsa-miR-4510	CLIP-seq
MIRT968463	hsa-miR-4514	CLIP-seq
MIRT968465	hsa-miR-4530	CLIP-seq
MIRT968466	hsa-miR-4537	CLIP-seq
MIRT2221454	hsa-miR-4668-3p	CLIP-seq
MIRT2221455	hsa-miR-4690-5p	CLIP-seq
MIRT968474	hsa-miR-4692	CLIP-seq
MIRT2221456	hsa-miR-4698	CLIP-seq
MIRT1987055	hsa-miR-4728-5p	CLIP-seq
MIRT968477	hsa-miR-4736	CLIP-seq
MIRT2221457	hsa-miR-4742-5p	CLIP-seq
MIRT1987056	hsa-miR-4761-5p	CLIP-seq
MIRT2221458	hsa-miR-4762-5p	CLIP-seq
MIRT968482	hsa-miR-4786-5p	CLIP-seq
MIRT968484	hsa-miR-4792	CLIP-seq
MIRT968485	hsa-miR-4793-3p	CLIP-seq
MIRT968487	hsa-miR-508-5p	CLIP-seq
MIRT2221459	hsa-miR-5095	CLIP-seq
MIRT1987060	hsa-miR-513a-3p	CLIP-seq
MIRT968488	hsa-miR-513a-5p	CLIP-seq
MIRT968489	hsa-miR-544b	CLIP-seq
MIRT1987061	hsa-miR-545	CLIP-seq
MIRT2221460	hsa-miR-548k	CLIP-seq
MIRT2221461	hsa-miR-548n	CLIP-seq
MIRT968498	hsa-miR-579	CLIP-seq
MIRT968499	hsa-miR-581	CLIP-seq
MIRT968501	hsa-miR-612	CLIP-seq
MIRT968503	hsa-miR-661	CLIP-seq
MIRT968505	hsa-miR-675	CLIP-seq
MIRT968506	hsa-miR-766	CLIP-seq
MIRT968507	hsa-miR-769-5p	CLIP-seq
MIRT2221462	hsa-miR-922	CLIP-seq
MIRT968510	hsa-miR-936	CLIP-seq
MIRT968511	hsa-miR-940	CLIP-seq
MIRT968403	hsa-miR-1244	CLIP-seq
MIRT2387517	hsa-miR-1272	CLIP-seq
MIRT968408	hsa-miR-1293	CLIP-seq
MIRT2387518	hsa-miR-1322	CLIP-seq
MIRT968412	hsa-miR-199a-3p	CLIP-seq
MIRT968413	hsa-miR-199b-3p	CLIP-seq
MIRT1987034	hsa-miR-3122	CLIP-seq
MIRT968419	hsa-miR-3129-5p	CLIP-seq
MIRT1987038	hsa-miR-3165	CLIP-seq
MIRT968430	hsa-miR-3622a-3p	CLIP-seq
MIRT968431	hsa-miR-3622b-3p	CLIP-seq
MIRT1987041	hsa-miR-3689a-3p	CLIP-seq
MIRT1987042	hsa-miR-3689c	CLIP-seq
MIRT1987047	hsa-miR-3913-5p	CLIP-seq
MIRT968460	hsa-miR-4466	CLIP-seq
MIRT968461	hsa-miR-4483	CLIP-seq
MIRT968463	hsa-miR-4514	CLIP-seq
MIRT968474	hsa-miR-4692	CLIP-seq
MIRT1987055	hsa-miR-4728-5p	CLIP-seq
MIRT1987056	hsa-miR-4761-5p	CLIP-seq
MIRT968489	hsa-miR-544b	CLIP-seq
MIRT968505	hsa-miR-675	CLIP-seq
MIRT968510	hsa-miR-936	CLIP-seq
MIRT968511	hsa-miR-940	CLIP-seq
MIRT2428614	hsa-miR-3607-5p	CLIP-seq
MIRT2428615	hsa-miR-660	CLIP-seq
MIRT2428616	hsa-miR-885-5p	CLIP-seq
MIRT2428617	hsa-miR-888	CLIP-seq
MIRT968407	hsa-miR-1285	CLIP-seq
MIRT968425	hsa-miR-3187-5p	CLIP-seq
MIRT968453	hsa-miR-4252	CLIP-seq
MIRT968455	hsa-miR-4299	CLIP-seq
MIRT968456	hsa-miR-4419a	CLIP-seq
MIRT968459	hsa-miR-4456	CLIP-seq
MIRT968462	hsa-miR-4510	CLIP-seq
MIRT968473	hsa-miR-4684-5p	CLIP-seq
MIRT968485	hsa-miR-4793-3p	CLIP-seq
MIRT968487	hsa-miR-508-5p	CLIP-seq
MIRT968493	hsa-miR-548c-3p	CLIP-seq
MIRT968494	hsa-miR-548q	CLIP-seq
MIRT968501	hsa-miR-612	CLIP-seq
MIRT968503	hsa-miR-661	CLIP-seq
MIRT968506	hsa-miR-766	CLIP-seq
MIRT968407	hsa-miR-1285	CLIP-seq
MIRT968408	hsa-miR-1293	CLIP-seq
MIRT2525069	hsa-miR-1298	CLIP-seq
MIRT968416	hsa-miR-3120-5p	CLIP-seq
MIRT1987034	hsa-miR-3122	CLIP-seq
MIRT968420	hsa-miR-3144-3p	CLIP-seq
MIRT1987038	hsa-miR-3165	CLIP-seq
MIRT968425	hsa-miR-3187-5p	CLIP-seq
MIRT968429	hsa-miR-3613-3p	CLIP-seq
MIRT968430	hsa-miR-3622a-3p	CLIP-seq
MIRT968431	hsa-miR-3622b-3p	CLIP-seq
MIRT968432	hsa-miR-3664-5p	CLIP-seq
MIRT1987041	hsa-miR-3689a-3p	CLIP-seq
MIRT1987042	hsa-miR-3689c	CLIP-seq
MIRT1987043	hsa-miR-369-3p	CLIP-seq
MIRT968436	hsa-miR-371-5p	CLIP-seq
MIRT968437	hsa-miR-371b-5p	CLIP-seq
MIRT1987044	hsa-miR-374a	CLIP-seq
MIRT1987045	hsa-miR-374b	CLIP-seq
MIRT1987047	hsa-miR-3913-5p	CLIP-seq
MIRT968453	hsa-miR-4252	CLIP-seq
MIRT968456	hsa-miR-4419a	CLIP-seq
MIRT968461	hsa-miR-4483	CLIP-seq
MIRT968462	hsa-miR-4510	CLIP-seq
MIRT968464	hsa-miR-4522	CLIP-seq
MIRT1987051	hsa-miR-4528	CLIP-seq
MIRT968473	hsa-miR-4684-5p	CLIP-seq
MIRT2221456	hsa-miR-4698	CLIP-seq
MIRT1987054	hsa-miR-4709-3p	CLIP-seq
MIRT1987055	hsa-miR-4728-5p	CLIP-seq
MIRT968476	hsa-miR-4732-5p	CLIP-seq
MIRT968479	hsa-miR-4760-3p	CLIP-seq
MIRT1987056	hsa-miR-4761-5p	CLIP-seq
MIRT968485	hsa-miR-4793-3p	CLIP-seq
MIRT968487	hsa-miR-508-5p	CLIP-seq
MIRT968489	hsa-miR-544b	CLIP-seq
MIRT968493	hsa-miR-548c-3p	CLIP-seq
MIRT968499	hsa-miR-581	CLIP-seq
MIRT968501	hsa-miR-612	CLIP-seq
MIRT968503	hsa-miR-661	CLIP-seq
MIRT968504	hsa-miR-664	CLIP-seq
MIRT968506	hsa-miR-766	CLIP-seq
MIRT968407	hsa-miR-1285	CLIP-seq
MIRT968416	hsa-miR-3120-5p	CLIP-seq
MIRT968417	hsa-miR-3121-3p	CLIP-seq
MIRT1987034	hsa-miR-3122	CLIP-seq
MIRT968425	hsa-miR-3187-5p	CLIP-seq
MIRT968429	hsa-miR-3613-3p	CLIP-seq
MIRT968432	hsa-miR-3664-5p	CLIP-seq
MIRT1987041	hsa-miR-3689a-3p	CLIP-seq
MIRT1987042	hsa-miR-3689c	CLIP-seq
MIRT1987043	hsa-miR-369-3p	CLIP-seq
MIRT968436	hsa-miR-371-5p	CLIP-seq
MIRT968437	hsa-miR-371b-5p	CLIP-seq
MIRT1987044	hsa-miR-374a	CLIP-seq
MIRT1987045	hsa-miR-374b	CLIP-seq
MIRT1987047	hsa-miR-3913-5p	CLIP-seq
MIRT968453	hsa-miR-4252	CLIP-seq
MIRT968456	hsa-miR-4419a	CLIP-seq
MIRT968462	hsa-miR-4510	CLIP-seq
MIRT968464	hsa-miR-4522	CLIP-seq
MIRT1987051	hsa-miR-4528	CLIP-seq
MIRT1987054	hsa-miR-4709-3p	CLIP-seq
MIRT1987055	hsa-miR-4728-5p	CLIP-seq
MIRT1987056	hsa-miR-4761-5p	CLIP-seq
MIRT968485	hsa-miR-4793-3p	CLIP-seq
MIRT2680254	hsa-miR-494	CLIP-seq
MIRT968487	hsa-miR-508-5p	CLIP-seq
MIRT968501	hsa-miR-612	CLIP-seq
MIRT968503	hsa-miR-661	CLIP-seq
MIRT968506	hsa-miR-766	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
FOS	Activation	20976523

Show/Hide all (57)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000014	Function	Single-stranded DNA endodeoxyribonuclease activity	IBA
GO:0000109	Component	Nucleotide-excision repair complex	IDA	10644440
GO:0000110	Component	Nucleotide-excision repair factor 1 complex	IBA
GO:0000110	Component	Nucleotide-excision repair factor 1 complex	IDA	10413517
GO:0000712	Process	Resolution of meiotic recombination intermediates	IBA
GO:0000723	Process	Telomere maintenance	IGI	17055345
GO:0000723	Process	Telomere maintenance	IMP	14690602
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA
GO:0000724	Process	Double-strand break repair via homologous recombination	IMP	14728600
GO:0000781	Component	Chromosome, telomeric region	IDA	14690602
GO:0001094	Function	TFIID-class transcription factor complex binding	IEA
GO:0003677	Function	DNA binding	IDA	14734547
GO:0003677	Function	DNA binding	IEA
GO:0003684	Function	Damaged DNA binding	IBA
GO:0003684	Function	Damaged DNA binding	IMP	11790111
GO:0003697	Function	Single-stranded DNA binding	IBA
GO:0003697	Function	Single-stranded DNA binding	IDA	10413517
GO:0003697	Function	Single-stranded DNA binding	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004520	Function	DNA endonuclease activity	IDA	8797827
GO:0004520	Function	DNA endonuclease activity	IDA	10413517, 14734547
GO:0004520	Function	DNA endonuclease activity	IEA
GO:0004520	Function	DNA endonuclease activity	IMP	17055345
GO:0005515	Function	Protein binding	IPI	7559382, 9722633, 12571280, 14690602, 14734547, 16338413, 17055345, 17289582, 18812185, 19595721, 19595722, 19596235, 19596236, 24012755, 24780295, 28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IDA	12571280
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IGI	17055345
GO:0006281	Process	DNA repair	IMP	19596235
GO:0006289	Process	Nucleotide-excision repair	IDA	10644440
GO:0006289	Process	Nucleotide-excision repair	IDA	10413517, 22547097, 32034146
GO:0006289	Process	Nucleotide-excision repair	IMP	8797827, 11790111, 14728600
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IMP	14690602
GO:0006974	Process	DNA damage response	IEA
GO:0009411	Process	Response to UV	IEA
GO:0009411	Process	Response to UV	IMP	16678501
GO:0009650	Process	UV protection	IEA
GO:0010506	Process	Regulation of autophagy	IEA
GO:0010521	Function	Telomerase inhibitor activity	IDA	18812185
GO:0016787	Function	Hydrolase activity	IEA
GO:0032205	Process	Negative regulation of telomere maintenance	IMP	17055345
GO:0034644	Process	Cellular response to UV	IDA	32034146
GO:0034644	Process	Cellular response to UV	IGI	17055345
GO:0042802	Function	Identical protein binding	IPI	22483113
GO:0061819	Process	Telomeric DNA-containing double minutes formation	IMP	14690602
GO:0070522	Component	ERCC4-ERCC1 complex	IDA	14690602, 17055345, 32034146
GO:0070522	Component	ERCC4-ERCC1 complex	IPI	16076955
GO:1901255	Process	Nucleotide-excision repair involved in interstrand cross-link repair	IBA
GO:1901255	Process	Nucleotide-excision repair involved in interstrand cross-link repair	IDA	32034146
GO:1904357	Process	Negative regulation of telomere maintenance via telomere lengthening	IDA	18812185
GO:1905765	Process	Negative regulation of protection from non-homologous end joining at telomere	IMP	14690602
GO:1990599	Function	3' overhang single-stranded DNA endodeoxyribonuclease activity	IMP	14690602
GO:1990841	Function	Promoter-specific chromatin binding	IEA

MIM	HGNC	e!Ensembl
133520	3436	ENSG00000175595

Q92889

Protein name

DNA repair endonuclease XPF (EC 3.1.-.-) (DNA excision repair protein ERCC-4) (DNA repair protein complementing XP-F cells) (Xeroderma pigmentosum group F-complementing protein)

Protein function

Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair, and which is essential for nucleotide excision repair (NER) and interstrand cross-link (ICL) repair. {ECO:0000269|PubMed:

PDB

1Z00 , 2A1J , 2AQ0 , 2KN7 , 2MUT , 6SXA , 6SXB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02732	ERCC4	686 → 816	ERCC4 domain	Domain

Sequence

MESGQPARRIAMAPLLEYERQLVLELLDTDGLVVCARGLGADRLLYHFLQLHCHPACLVL
VLNTQPAEEEYFINQLKIEGVEHLPRRVTNEITSNSRYEVYTQGGVIFATSRILVVDFLT
DRIPSDLITGILVYRAHRIIESCQEAFILRLFRQKNKRGFIKAFTDNAVAFDTGFCHVER
VMRNLFVRKLYLWPRFHVAVNSFLEQHKPEVVEIHVSMTPTMLAIQTAILDILNACLKEL
KCHNPSLEVEDLSLENAIGKPFDKTIRHYLDPLWHQLGAKTKSLVQDLKILRTLLQYLSQ
YDCVTFLNLLESLRATEKAFGQNSGWLFLDSSTSMFINARARVYHLPDAKMSKKEKISEK
MEIKEGEETKKELVLESNPKWEALTEVLKEIEAENKESEALGGPGQVLICASDDRTCSQL
RDYITLGAEAFLLRLYRKTFEKDSKAEEVWMKFRKEDSSKRIRKSHKRPKDPQNKERAST
KERTLKKKKRKLTLTQMVGKPEELEEEGDVEEGYRREISSSPESCPEEIKHEEFDVNLSS
DAAFGILKEPLTIIHPLLGCSDPYALTRVLHEVEPRYVVLYDAELTFVRQLEIYRASRPG
KPLRVYFLIYGGSTEEQRYLTALRKEKEAFEKLIREKASMVVPEEREGRDETNLDLVRGT
ASADVSTDTRKAGGQEQNGTQQSIVVDMREFRSELPSLIHRRGIDIEPVTLEVGDYILTP
EMCVERKSISDLIGSLNNGRLYSQCISMSRYYKRPVLLIEFDPSKPFSLTSRGALFQEIS
SNDISSKLTLLTLHFPRLRILWCPSPHATAELFEELKQSKPQPDAATALAITADSETLPE
SEKYNPGPQDFLLKMPGVNAKNCRSLMHHVKNIAELAALSQDELTSILGNAANAKQLYDF
IHTSFAEVVSKGKGKK

Sequence length

916

Interactions

View interactions

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

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

Show/Hide Causal Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of blood and blood-forming tissues	Likely pathogenic	rs2141946259	RCV001814342	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive cerebellar ataxia	Likely pathogenic; Pathogenic	rs147105770	RCV005429220	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cockayne syndrome	Likely pathogenic; Pathogenic	rs1314323456, rs774510191, rs779091652, rs753325454, rs762738968, rs1355878901, rs1419167361, rs2543161072, rs900093826, rs1355589374, rs772432152, rs780647908, rs2543161364, rs750971687, rs201179693 View all (12 more)	RCV001377820 RCV001389442 RCV003772149 RCV001869789 RCV001919468 View all (22 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ERCC4-related disorder	Likely pathogenic; Pathogenic	rs147105770	RCV003415812	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ERCC4-Related Disorders	Pathogenic; Likely pathogenic	rs753325454, rs149364215	RCV004782796 RCV004700343	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi anemia complementation group Q	Likely pathogenic; Pathogenic	rs1314323456, rs774510191, rs2141946068, rs779091652, rs753325454, rs587777943, rs762738968, rs1355878901, rs1419167361, rs2543161072, rs900093826, rs1355589374, rs772432152, rs780647908, rs2543161364 View all (16 more)	RCV001377820 RCV001389442 RCV001554280 RCV003772149 RCV001869789 View all (26 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian cancer	Likely pathogenic	rs766652186	RCV003154805	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Precursor B-cell acute lymphoblastic leukemia	Pathogenic	rs397509400	RCV000722038	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia	Pathogenic	rs397509404	RCV001646986	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Xeroderma pigmentosum	Likely pathogenic; Pathogenic	rs1314323456, rs587777943, rs2543179894, rs2141940032, rs147105770	RCV003226467 RCV002259275 RCV003155758 RCV003226760 RCV002222373	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma pigmentosum, group F	Likely pathogenic; Pathogenic	rs1314323456, rs774510191, rs779091652, rs753325454, rs587777943, rs762738968, rs1355878901, rs1419167361, rs2543169545, rs2141619663, rs2543161072, rs900093826, rs1355589374, rs772432152, rs780647908 View all (18 more)	RCV001377820 RCV001389442 RCV003772149 RCV001869789 RCV005016423 View all (28 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma pigmentosum, type F/Cockayne syndrome	Likely pathogenic; Pathogenic	rs397509403, rs397509404, rs147105770	RCV000049248 RCV000049249 RCV000049250	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
XFE progeroid syndrome	Likely pathogenic; Pathogenic	rs587777943, rs772432152, rs780647908, rs201179693, rs1258096180, rs121913050, rs2020959, rs149364215, rs147105770	RCV005016423 RCV005016680 RCV005014968 RCV005014966 RCV005014980 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (52)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behavioral variant of frontotemporal dementia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of pancreas	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COCKAYNE SYNDROME TYPE 1	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COCKAYNE SYNDROME, TYPE I	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONDUCT DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP Q	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC PREDISPOSITION TO DISEASE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth failure in early childhood	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hutchinson-Gilford syndrome	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	-; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-NEOPLASTIC PERIPHERAL NERVOUS SYSTEM DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NERVOUS SYSTEM DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY DENTAL CARIES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME COMPLEX	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM GROUP F	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (260)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute monocytic leukemia	Monocytic Leukemia	GENOMICS_ENGLAND_DG	28297620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	22269178		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	29739952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	18544627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	32111838	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arsenic Encephalopathy	Arsenic Encephalopathy	CTD_human_DG	12569548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	36071684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	16537713, 20062074, 25535740, 27542841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	20062074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	24465539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	14652281, 15784178, 15886521, 16823510, 17018596, 17932351, 18551366, 18701435, 18767034, 21424776, 23909490, 24465539, 24737474, 31499327		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Diseases	Breast Diseases	LHGDN	19124519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast disease	Pubtator	19124519	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18551366, 18701435, 19124519, 19423537, 19920816, 21622940, 21700777, 23852586, 23909490, 24465539, 31499327, 33067872	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23852586	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	33202356	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26967386	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	33202356	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	16537713, 20062074, 25535740, 27542841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	19444904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17299578, 18068852, 25292041, 29741112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	36409970	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32901726	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	7756123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	22609620, 24027083, 30797591		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	36071684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	23435956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	23435956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	21632856		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	18927284, 23623389, 30165384		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cockayne Syndrome	Cockayne Syndrome	CLINVAR_DG	20221251, 21612988, 23623389, 26074087, 26453996, 26884178		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cockayne Syndrome	Cockayne syndrome	Pubtator	23623389, 29105242, 29325523, 30165384, 30658521, 34096589	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cockayne syndrome type 1	Cockayne Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cockayne Syndrome, Type I	Cockayne Syndrome	ORPHANET_DG	23623389		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colitis	Colitis	BEFREE	30121380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24144331, 24861646, 25730007, 29568775, 29777901, 31568607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29568775, 31568607	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ankyloblepharon	Congenital Ankyloblepharon	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	19217883, 31501277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conjunctival telangiectasis	Conjunctival Telangiectasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27542841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	23568549, 26427666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	22228707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	27062014		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Embryonal Neoplasm	Embryonal Neoplasm	CTD_human_DG	19956886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30886832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Entropion	Entropion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	22609620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	21490450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	21490450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	24709955	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	24709955	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Neoplasms	Eye Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	29739952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	LHGDN	18020456		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi Anemia	Fanconi Anemia	BEFREE	19805513, 21723207, 23623386, 23623389, 24027083, 24351291, 24465539, 26453996, 29325523, 29403087		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi Anemia	Fanconi Anemia	ORPHANET_DG	23623386		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi Anemia	Fanconi anemia	Pubtator	23623386, 23623389, 24351291, 24465539, 29105242, 29325523, 30658521	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi anemia	Fanconi Anemia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi Anemia	Fanconi Anemia	GENOMICS_ENGLAND_DG	28297620		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	18020456, 19805513, 21723207, 23571757, 23623386, 23623389, 24027083, 24351291, 24465539, 26453996, 29325523, 29403087		★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP Q	Fanconi Anemia	CLINVAR_DG	20221251, 21612988, 23623389, 26074087, 26453996, 26884178		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP Q	Fanconi Anemia	GENOMICS_ENGLAND_DG	22044607, 23623389, 24027083, 3372781		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP Q	Fanconi Anemia	UNIPROT_DG	23623386, 24027083		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP Q	Fanconi Anemia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	23415627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	27460091	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	CTD_human_DG	19956886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23911298, 23991957, 24938470, 26843108, 27055523		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	23991957, 24634177, 24938470	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	23720401, 24487794, 25019640	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	BEFREE	24027083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	25340731	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	31924810	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	26888738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	22228707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	26779634, 32868804	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	25455269, 26779634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GENOMICS_ENGLAND_DG	28297620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	25340731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	31828418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	18068852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19887610, 28464886, 32344513, 37006075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	14652281, 15784178, 15886521, 16823510, 17018596, 17932351, 18551366, 18701435, 18767034, 21424776, 23909490, 24465539, 24737474, 31499327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30886832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	21490450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	27542841		★★★★★ ★☆☆☆☆ 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	17299578, 18068852, 25292041, 29741112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	31828418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24027083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	18544627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27974699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23166636, 23415627, 23537993, 23679285, 24318989, 25342505, 28415781, 30417012, 30546430, 30854110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	CTD_human_DG	19956886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	27542841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	16537713, 20062074, 25535740, 27542841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	20062074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16103444, 16142233, 18245329, 20944091, 21737503, 22768293, 22848636, 22941649, 24027083, 24737474, 24938470, 25115435, 25292041, 25956741, 30121380, 31040199, 9893669 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	BEFREE	27542841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	23435956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	18068852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15886521, 17018596, 19124519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	31499327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	17210993, 21996734, 23568549, 23659246, 26427666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23659246, 23982883	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	26427666	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	20150366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	20150366	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	20150366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	GENOMICS_ENGLAND_DG	28297620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	GENOMICS_ENGLAND_DG	28297620		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	28472728		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	28472728	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21737503, 25634215, 29872499, 30121380, 30797591		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms, Embryonal and Mixed	Neoplasm	CTD_human_DG	19956886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms, Germ Cell and Embryonal	Neoplasm	CTD_human_DG	19956886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29544698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	29544698	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	25340731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	25340731	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	11285194, 17118488, 26045829, 28903417, 29134637		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	15886521		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	26085086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	22848636	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	35052464	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	21452186, 26436406		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36271359	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24027083		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	18544627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	18544627	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	18544627, 39256447	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	CTD_human_DG	20864405		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM I	Pituitary dwarfism	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Poikiloderma	Poikiloderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pre B-cell acute lymphoblastic leukemia	B-cell Lymphoma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	16142233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	17273966, 20221251, 22127259, 26453996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	27974699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27974699	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	27542841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27542841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	33202356	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	28878254, 34308104	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seborrheic keratosis	Seborrheic keratosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	37006075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	22269178, 25812040		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	22374244, 24709955		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	21737503, 22848636, 24064970, 25019640, 32901726, 40076972	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	15936543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	21737503, 22848636, 25019640, 26918827, 30498981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	31828418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23166636, 23415627, 23537993, 23679285, 24318989, 28415781, 30417012, 30546430, 30854110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23166636, 23679285, 24318989, 24793015, 27340861, 28415781, 30417012	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Diseases	Testicular Diseases	BEFREE	20846399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular Neoplasms	LHGDN	15095299		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Neoplasms	Testicular Neoplasms	CTD_human_DG	19956886		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thumb aplasia	Thumb Aplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	21138871	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25023197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tumor of Rete Testis	Tumor of Rete Testis	CTD_human_DG	19956886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	22460090, 25535740, 27862976	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urticaria	Urticaria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	22127259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	16142233, 16284380, 17183314, 17273966, 18927284, 20221251, 21612988, 23623386, 26453996, 29325523, 30165384, 30665703, 30808711, 9579555		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	18470933, 18927284, 21388382, 23623386, 23623389, 28130555, 29325523, 30165384, 30516811, 30658521, 30665703, 32111838, 37364129, 9579555	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma pigmentosum	Xeroderma Pigmentosum	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma Pigmentosum Complementation Group F	Xeroderma pigmentosum	Pubtator	23909490, 26085086, 26681190	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, group A	Xeroderma Pigmentosum	BEFREE	14706347, 17299578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, group F	Xeroderma Pigmentosum	UNIPROT_DG	10447254, 23623389, 8797827, 9579555, 9580660		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma pigmentosum, group F	Xeroderma Pigmentosum	BEFREE	11095693, 16492920, 18068852, 18541667, 20062074, 20221251, 21737503, 22353549, 23679285, 23909490, 23911298, 23991957, 24662920, 24861646, 25115435 View all (8 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma pigmentosum, group F	Xeroderma Pigmentosum	CLINGEN_DG	14729965, 23623389, 24105368, 26884178, 8797827, 9579555, 9580660		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma pigmentosum, group F	Xeroderma Pigmentosum	CLINVAR_DG	20221251, 21612988, 23623389, 26074087, 26453996, 26884178, 8797827, 9579555		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma pigmentosum, group F	Xeroderma Pigmentosum	GENOMICS_ENGLAND_DG	22044607, 3372781, 8797827		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma pigmentosum, group F	Xeroderma Pigmentosum	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma pigmentosum, group G	Xeroderma Pigmentosum	BEFREE	21424776, 29416673		★★★★★ ★☆☆☆☆ Found in Text Mining only
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME	Xeroderma Pigmentosum	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Xeroderma pigmentosum-Cockayne syndrome complex	Xeroderma Pigmentosum-Cockayne Syndrome Complex	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XFE Progeroid Syndrome	XFE Progeroid Syndrome	UNIPROT_DG	17183314		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
XFE Progeroid Syndrome	XFE Progeroid Syndrome	BEFREE	20221251, 23623386		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
XFE Progeroid Syndrome	XFE Progeroid Syndrome	GENOMICS_ENGLAND_DG	22044607, 3372781		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
XFE Progeroid Syndrome	Xfe progeroid syndrome	Pubtator	23623386, 29105242, 30658521	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
XFE Progeroid Syndrome	XFE Progeroid Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
XFE Progeroid Syndrome	XFE Progeroid Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit)