BRIP1 (BRCA1 interacting DNA helicase 1)

Gene

• Entrez ID: 83990
• Gene name: BRCA1 interacting DNA helicase 1
• Gene symbol: BRIP1
• Synonyms (NCBI Gene): BACH1, FANCJ, OF
• Chromosome: 17
• Chromosome location: 17q23.2
• Summary: The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs4988349	T>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic upstream transcript variant
rs4988356	A>C	Uncertain-significance, not-provided, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, missense variant
rs28903098	G>C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, missense variant, coding sequence variant
rs28997571	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Upstream transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs45437094	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs45459799	G>A,C	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Stop gained, genic upstream transcript variant, missense variant, coding sequence variant
rs45512093	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, missense variant, coding sequence variant
rs45528833	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs45566938	C>A,G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs45589637	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs45617634	T>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, genic upstream transcript variant, missense variant, coding sequence variant
rs62620988	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, missense variant, coding sequence variant
rs113697814	T>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, downstream transcript variant, synonymous variant, genic downstream transcript variant, missense variant
rs137852985	C>T	Pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, missense variant
rs137852986	G>A	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic, uncertain-significance	3 prime UTR variant, coding sequence variant, stop gained, genic downstream transcript variant
rs140233356	G>A,C	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant, downstream transcript variant, genic downstream transcript variant, missense variant
rs147119272	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs149364097	C>A,G,T	Uncertain-significance, likely-pathogenic, not-provided, pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs149529390	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant, missense variant, genic downstream transcript variant, coding sequence variant
rs150313156	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs200239986	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant
rs201869624	G>A,C	Benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant, 3 prime UTR variant
rs368796923	G>A	Likely-pathogenic, pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs371185409	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs373040333	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs373104267	C>A,T	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, missense variant
rs552752779	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Genic upstream transcript variant, intron variant
rs565458815	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, coding sequence variant
rs574552037	G>A,C	Pathogenic, benign, likely-benign	3 prime UTR variant, coding sequence variant, stop gained, synonymous variant, genic downstream transcript variant
rs575595017	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs587778134	AA>-,AAAA	Not-provided, pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs587778138	T>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs587780224	TG>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs587780226	G>A,T	Pathogenic, likely-benign	Coding sequence variant, stop gained, synonymous variant, genic upstream transcript variant
rs587780228	C>A,G	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant
rs587780236	->A	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs587780240	->A	Likely-pathogenic	Downstream transcript variant, splice donor variant, genic downstream transcript variant
rs587780244	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, downstream transcript variant, genic downstream transcript variant
rs587780247	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant, genic upstream transcript variant
rs587780830	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs587780833	C>A,T	Pathogenic, likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs587780875	A>C,G	Pathogenic, benign, likely-benign	Coding sequence variant, stop gained, synonymous variant, genic upstream transcript variant
rs587781292	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant
rs587781321	G>A,T	Pathogenic, uncertain-significance	5 prime UTR variant, coding sequence variant, stop gained, intron variant, genic upstream transcript variant, upstream transcript variant, missense variant
rs587781416	->T	Pathogenic	Coding sequence variant, frameshift variant, intron variant, genic upstream transcript variant
rs587781639	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs587781644	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, downstream transcript variant, genic downstream transcript variant
rs587781655	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs587781786	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant, genic upstream transcript variant
rs587781860	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, genic upstream transcript variant
rs587781974	C>-	Pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant, genic downstream transcript variant
rs587781985	->C	Pathogenic, likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, intron variant, genic upstream transcript variant, upstream transcript variant
rs587782047	C>A,T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs587782065	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs587782131	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, genic upstream transcript variant
rs587782410	A>C	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, downstream transcript variant, genic downstream transcript variant
rs587782514	A>C,G	Pathogenic, likely-benign	Coding sequence variant, stop gained, synonymous variant, genic upstream transcript variant
rs587782539	C>T	Pathogenic, pathogenic-likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs587782574	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs587782679	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, downstream transcript variant, genic downstream transcript variant
rs587782726	ATTG>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs587783377	AG>T	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs730881633	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant
rs730881635	T>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant
rs730881645	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs730881647	->CACA	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs730881649	TT>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs747604569	G>A,T	Pathogenic, likely-pathogenic, likely-benign	Coding sequence variant, stop gained, intron variant, synonymous variant, genic upstream transcript variant
rs748274524	C>A,G,T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs748598593	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs749762964	T>-	Pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, frameshift variant
rs752309409	G>A	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic upstream transcript variant
rs752411477	A>G,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant, genic upstream transcript variant
rs752780954	->A	Pathogenic	Coding sequence variant, frameshift variant, downstream transcript variant, genic downstream transcript variant
rs753023295	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant
rs753683450	->T	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs754270436	C>T	Conflicting-interpretations-of-pathogenicity, benign	Genic upstream transcript variant, 5 prime UTR variant
rs756853672	G>-	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs759031349	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, genic upstream transcript variant, missense variant
rs760551339	GGAT>-	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant
rs760782298	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, intron variant
rs761405340	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs761452695	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic upstream transcript variant, missense variant
rs761639530	G>A,C	Likely-pathogenic	Coding sequence variant, stop gained, missense variant, genic downstream transcript variant, downstream transcript variant
rs762701532	C>A,T	Pathogenic	Coding sequence variant, stop gained, intron variant, missense variant, genic upstream transcript variant
rs763009188	TTGT>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant
rs763443434	->GTCAAGCT	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs763818712	->T	Pathogenic	Coding sequence variant, intron variant, upstream transcript variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant
rs764406913	T>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs764803896	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs765154059	T>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs766516963	C>G,T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant, upstream transcript variant
rs767666616	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, downstream transcript variant, coding sequence variant
rs768736851	TTAAG>-	Pathogenic, likely-pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs771028677	TGTT>-,TGTTTGTT	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs771654971	->T	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs773639563	C>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs774684620	T>-,TT	Pathogenic, pathogenic-likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs775171520	C>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Stop gained, missense variant, genic upstream transcript variant, coding sequence variant
rs775537066	->A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs775735278	T>-,TT	Pathogenic, likely-pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs775755739	A>C,G	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs777068696	C>A,T	Uncertain-significance, likely-pathogenic	5 prime UTR variant, stop gained, missense variant, coding sequence variant, genic upstream transcript variant
rs777213170	G>A,T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs777217004	G>A,C	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs777367075	->A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs778664039	AGAT>-	Uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs779466229	A>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs779741278	->A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs780020495	G>A	Pathogenic, likely-pathogenic	Upstream transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs786201701	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, coding sequence variant
rs786201733	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs786201808	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs786202415	AACCGAAGCTGAACTTCTGTTA>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs786202610	T>-	Likely-pathogenic, pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs786202760	C>A,G,T	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, stop gained, genic downstream transcript variant, coding sequence variant, intron variant
rs786202927	T>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs786202941	C>A,G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs786203384	T>GGA	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs786203429	TAT>AG	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, intron variant
rs786203451	C>G,T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, intron variant, splice acceptor variant
rs786203521	->T	Likely-pathogenic, pathogenic	Genic upstream transcript variant, coding sequence variant, intron variant, stop gained
rs786203700	T>C	Likely-pathogenic, pathogenic-likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, splice acceptor variant
rs786203717	CTTT>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs786203890	C>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs786203898	G>A,T	Uncertain-significance, pathogenic	Missense variant, stop gained, genic downstream transcript variant, coding sequence variant, downstream transcript variant
rs786204250	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, 3 prime UTR variant
rs863224525	T>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs864622166	A>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs864622236	T>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs864622277	C>A,G	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs864622611	CTTTT>-	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs869312762	C>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, splice acceptor variant
rs869312763	T>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs876658270	A>C,G	Uncertain-significance, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, stop gained
rs876659212	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, downstream transcript variant
rs876659379	CTT>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, inframe deletion
rs876659490	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs876659533	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs876659707	T>A	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs876660080	G>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, intron variant
rs876660100	TCAGGATCAT>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs876660125	C>A,G,T	Uncertain-significance, pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, stop gained
rs876660203	C>A,T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant, downstream transcript variant
rs876660219	GACAA>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs876660613	A>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs876660769	A>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs876660880	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, coding sequence variant
rs876660891	T>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, intron variant, synonymous variant
rs876660937	C>A,T	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, missense variant, synonymous variant, coding sequence variant, intron variant
rs876661141	A>G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs876661246	TA>-	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, frameshift variant, initiator codon variant, 5 prime UTR variant
rs878855134	->AG	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs878855140	->GTTGTTGAAATATCAATTTGATATA	Pathogenic	Genic upstream transcript variant, upstream transcript variant, stop gained, inframe insertion, coding sequence variant
rs878855143	T>C,G	Likely-pathogenic	Genic downstream transcript variant, intron variant, splice acceptor variant
rs878855145	A>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs878855151	TT>-	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs878855159	->A	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs886041147	T>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant
rs1008150951	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs1028347439	G>A	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs1057517643	A>T	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1057517648	C>-	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, genic upstream transcript variant, splice donor variant
rs1057519365	TT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs1057520058	TT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, intron variant
rs1057520255	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs1060501739	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1060501740	G>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs1060501757	C>A	Likely-pathogenic	Splice acceptor variant, upstream transcript variant, genic upstream transcript variant
rs1060501763	A>C	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1060501765	T>A,C	Pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, missense variant, stop gained
rs1060501766	G>A,C	Pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant, 3 prime UTR variant, stop gained
rs1060501772	->C	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1060501774	C>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, stop gained
rs1060501778	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1060501779	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1064793626	G>-	Pathogenic	Intron variant, upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant, genic upstream transcript variant
rs1064793812	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1064793887	C>T	Likely-pathogenic, pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1064794202	ACAA>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1064794668	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1064794689	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1064794890	T>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs1064795352	C>A,T	Pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant, 3 prime UTR variant, stop gained
rs1064795413	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1064795649	CT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1064795698	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic upstream transcript variant, intron variant, synonymous variant
rs1219435870	C>T	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1226658018	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs1257401983	G>C	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1260994999	CA>-	Pathogenic	Frameshift variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1292988272	C>-	Likely-pathogenic, pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1295703239	AGAT>-,AGATAGAT	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant
rs1304655615	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1310861578	->TAC	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1339743866	->T	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1342519012	C>-	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1356014648	G>A,C	Pathogenic, uncertain-significance	Missense variant, genic upstream transcript variant, stop gained, upstream transcript variant, coding sequence variant
rs1368457771	C>G,T	Likely-pathogenic	Splice acceptor variant, intron variant, genic upstream transcript variant, upstream transcript variant
rs1400202829	CAAAA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1420431000	A>C	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Stop gained, genic downstream transcript variant, coding sequence variant
rs1436085018	A>C	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs1437158047	C>G,T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1442433909	T>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, genic upstream transcript variant
rs1457869893	->A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, intron variant
rs1483527885	->A	Pathogenic	Frameshift variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant
rs1555572698	C>A	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555572799	ACTGTCA>GAG	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555573327	G>-	Pathogenic	Frameshift variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant
rs1555573386	A>-	Pathogenic	Frameshift variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant
rs1555573497	C>T	Pathogenic	Stop gained, 3 prime UTR variant, genic downstream transcript variant, coding sequence variant
rs1555574711	->A	Uncertain-significance, likely-pathogenic	Splice donor variant, intron variant, genic downstream transcript variant
rs1555574788	AG>-	Pathogenic	Frameshift variant, intron variant, genic downstream transcript variant, coding sequence variant
rs1555574796	CC>-,CCC	Pathogenic	Frameshift variant, intron variant, genic downstream transcript variant, coding sequence variant
rs1555574803	C>T	Pathogenic	Intron variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1555580769	T>-	Pathogenic	Frameshift variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant
rs1555580957	GTA>CAAAT	Pathogenic	Frameshift variant, 3 prime UTR variant, genic downstream transcript variant, coding sequence variant
rs1555590286	C>A,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555590388	->T	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555590521	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555591308	TCTC>-,TC	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555591361	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555591365	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555591385	->A	Likely-pathogenic, pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555601064	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555601094	A>GG	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555601203	C>T	Pathogenic	Intron variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1555601204	C>G,T	Likely-pathogenic	Intron variant, splice acceptor variant, genic downstream transcript variant
rs1555602127	AT>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant, 5 prime UTR variant, upstream transcript variant, genic upstream transcript variant
rs1555602154	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant, 5 prime UTR variant, upstream transcript variant, genic upstream transcript variant
rs1555602638	->TTTAT	Pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1555603622	->A	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555603635	CTATAAGAAATTACC>-	Likely-pathogenic	Intron variant, splice acceptor variant, genic upstream transcript variant, coding sequence variant
rs1555603638	C>T	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1555605866	A>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555605902	C>A,G	Uncertain-significance, pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, missense variant
rs1555605955	C>A	Likely-pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs1555607022	C>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1555607070	T>A,C	Uncertain-significance, pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, missense variant
rs1555607628	C>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1555607749	C>T	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs1555607759	->T	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555607792	AATA>-	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555609116	G>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555609121	->T	Likely-pathogenic, pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555609162	G>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555609191	A>-	Likely-pathogenic, pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555609214	->T	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555609254	->A	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555609298	->A	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555609402	GGCTGTA>-	Likely-pathogenic	Intron variant, splice acceptor variant, genic upstream transcript variant, coding sequence variant
rs1555615743	AG>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555615763	G>A,C	Uncertain-significance, likely-pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, missense variant
rs1555615784	C>A	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs1555616143	TTCTT>-	Likely-pathogenic, pathogenic	Frameshift variant, intron variant, genic upstream transcript variant, coding sequence variant
rs1555616150	T>-	Pathogenic	Frameshift variant, intron variant, genic upstream transcript variant, coding sequence variant
rs1555616176	T>-	Pathogenic	Frameshift variant, intron variant, genic upstream transcript variant, coding sequence variant
rs1555616185	CTGTTTCTTA>TTT	Pathogenic	Frameshift variant, intron variant, genic upstream transcript variant, coding sequence variant
rs1555616206	AGTGG>-	Pathogenic	Frameshift variant, intron variant, genic upstream transcript variant, coding sequence variant
rs1555617829	G>C	Pathogenic	Genic upstream transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1555617834	C>-	Pathogenic	Frameshift variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs1555617925	T>-	Pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1555617934	C>A	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant, upstream transcript variant
rs1555618374	->AA	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555618375	A>GAG	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555618396	->GAACAAAGTAAGGCTAAGCTTTTTCCACTTCCTGTGGGACTCTCCAACAAACAATGTTGCTTGCTGTTTAATCCTCTGAGAATCTATGAACA	Pathogenic	Intron variant, splice acceptor variant, genic upstream transcript variant, coding sequence variant
rs1555618709	->A	Likely-pathogenic, pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555618716	->G	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555618727	T>A	Likely-pathogenic, pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs1555618738	C>T	Likely-pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs1567729445	AACT>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567731917	G>-	Pathogenic	Frameshift variant, 3 prime UTR variant, genic downstream transcript variant, coding sequence variant
rs1567737536	C>T	Likely-pathogenic	Splice donor variant, intron variant, genic downstream transcript variant
rs1567755539	C>G	Likely-pathogenic	Splice donor variant, genic downstream transcript variant, downstream transcript variant
rs1567756032	C>T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1567779336	C>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1567781169	->C	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567781516	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567781543	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567809140	C>-	Pathogenic	Intron variant, splice acceptor variant, genic downstream transcript variant, coding sequence variant
rs1567812616	C>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant, upstream transcript variant, genic upstream transcript variant
rs1567813223	A>-	Pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1567816997	C>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1567831477	->GT	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1567831649	CAGCATCTTGTATTAG>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1567838174	C>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1567838246	T>-	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1567868477	->A	Pathogenic	Frameshift variant, coding sequence variant, intron variant, genic upstream transcript variant
rs1567868785	T>C	Likely-pathogenic	Splice acceptor variant, intron variant, genic upstream transcript variant
rs1567874485	->TGCC	Pathogenic	Initiator codon variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1567874779	T>-	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, genic upstream transcript variant
rs1567878148	->A	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1567878234	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1603275179	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1603275367	->TCTTTAATGATGAAATAATG	Likely-pathogenic	Inframe indel, coding sequence variant, stop gained, genic downstream transcript variant
rs1603275598	->A	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1603275616	CT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1603275707	C>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1603275716	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs1603276502	A>G	Likely-pathogenic	Genic downstream transcript variant, downstream transcript variant, splice donor variant
rs1603276728	->G	Pathogenic	Downstream transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603277005	->GTAC	Pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant, genic downstream transcript variant
rs1603280507	ATCCACTAGAATAAGA>GG	Pathogenic	Frameshift variant, coding sequence variant, intron variant, genic downstream transcript variant
rs1603280621	T>C	Likely-pathogenic	Splice acceptor variant, intron variant, genic downstream transcript variant
rs1603293306	CTTACC>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, splice donor variant, intron variant, downstream transcript variant
rs1603293314	C>-	Likely-pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, splice donor variant
rs1603328466	CA>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1603328667	->C	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1603328780	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant, genic downstream transcript variant
rs1603328816	->T	Pathogenic	Frameshift variant, coding sequence variant, intron variant, genic downstream transcript variant
rs1603334758	CT>-	Pathogenic	Frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs1603336895	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1603336897	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1603336980	C>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1603337052	T>C	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1603340281	TGGG>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1603342258	->A	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1603342313	->A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1603342316	G>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs1603342339	GTTCTTTC>TAT	Pathogenic	Inframe indel, coding sequence variant, stop gained, genic upstream transcript variant
rs1603343101	T>-	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1603343235	->TATG	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1603346587	A>G	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1603346857	->ATATTTT	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1603346983	T>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1603347042	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1603347058	CAGGGGGC>-	Pathogenic	Coding sequence variant, splice acceptor variant, genic upstream transcript variant
rs1603361558	AA>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1603361570	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1603361577	T>-	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1603361587	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1603361705	->C	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1603362580	C>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant, genic upstream transcript variant
rs1603362622	G>C	Pathogenic	Stop gained, coding sequence variant, intron variant, genic upstream transcript variant
rs1603362725	AG>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant, genic upstream transcript variant
rs1603366250	CTTGGATAGTTGAAATG>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs1603366351	G>C	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, genic upstream transcript variant
rs1603367647	C>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1603367649	C>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1603367673	TAAG>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1603367753	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1603368431	G>C	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1603368490	TTGAA>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024519	hsa-miR-215-5p	Microarray	19074876
MIRT026770	hsa-miR-192-5p	Microarray	19074876
MIRT047176	hsa-miR-182-5p	CLASH	23622248
MIRT043978	hsa-miR-378a-5p	CLASH	23622248
MIRT824672	hsa-let-7a	CLIP-seq
MIRT824673	hsa-let-7b	CLIP-seq
MIRT824674	hsa-let-7c	CLIP-seq
MIRT824675	hsa-let-7d	CLIP-seq
MIRT824676	hsa-let-7e	CLIP-seq
MIRT824677	hsa-let-7f	CLIP-seq
MIRT824678	hsa-let-7g	CLIP-seq
MIRT824679	hsa-let-7i	CLIP-seq
MIRT824680	hsa-miR-1193	CLIP-seq
MIRT824681	hsa-miR-1200	CLIP-seq
MIRT824682	hsa-miR-122	CLIP-seq
MIRT824683	hsa-miR-1224-5p	CLIP-seq
MIRT824684	hsa-miR-1228	CLIP-seq
MIRT824685	hsa-miR-1245b-3p	CLIP-seq
MIRT824686	hsa-miR-1255a	CLIP-seq
MIRT824687	hsa-miR-1255b	CLIP-seq
MIRT824688	hsa-miR-1256	CLIP-seq
MIRT824689	hsa-miR-125a-5p	CLIP-seq
MIRT824690	hsa-miR-125b	CLIP-seq
MIRT824691	hsa-miR-1260	CLIP-seq
MIRT824692	hsa-miR-1260b	CLIP-seq
MIRT824693	hsa-miR-1261	CLIP-seq
MIRT824694	hsa-miR-1264	CLIP-seq
MIRT824695	hsa-miR-1269	CLIP-seq
MIRT824696	hsa-miR-1269b	CLIP-seq
MIRT824697	hsa-miR-1271	CLIP-seq
MIRT824698	hsa-miR-1272	CLIP-seq
MIRT824699	hsa-miR-1273g	CLIP-seq
MIRT824700	hsa-miR-1278	CLIP-seq
MIRT824701	hsa-miR-128	CLIP-seq
MIRT824702	hsa-miR-1288	CLIP-seq
MIRT824703	hsa-miR-1289	CLIP-seq
MIRT824704	hsa-miR-129-5p	CLIP-seq
MIRT824705	hsa-miR-1304	CLIP-seq
MIRT824706	hsa-miR-1321	CLIP-seq
MIRT824707	hsa-miR-1323	CLIP-seq
MIRT824708	hsa-miR-139-3p	CLIP-seq
MIRT824709	hsa-miR-142-5p	CLIP-seq
MIRT824710	hsa-miR-149	CLIP-seq
MIRT824711	hsa-miR-151-3p	CLIP-seq
MIRT824712	hsa-miR-153	CLIP-seq
MIRT824713	hsa-miR-182	CLIP-seq
MIRT824714	hsa-miR-1827	CLIP-seq
MIRT824715	hsa-miR-186	CLIP-seq
MIRT824716	hsa-miR-188-3p	CLIP-seq
MIRT824717	hsa-miR-1976	CLIP-seq
MIRT824718	hsa-miR-202	CLIP-seq
MIRT824719	hsa-miR-2052	CLIP-seq
MIRT824720	hsa-miR-2053	CLIP-seq
MIRT824721	hsa-miR-2114	CLIP-seq
MIRT824722	hsa-miR-2392	CLIP-seq
MIRT824723	hsa-miR-2681	CLIP-seq
MIRT824724	hsa-miR-27a	CLIP-seq
MIRT824725	hsa-miR-27b	CLIP-seq
MIRT824726	hsa-miR-28-3p	CLIP-seq
MIRT824727	hsa-miR-296-3p	CLIP-seq
MIRT824728	hsa-miR-297	CLIP-seq
MIRT824729	hsa-miR-299-5p	CLIP-seq
MIRT824730	hsa-miR-302a	CLIP-seq
MIRT824731	hsa-miR-302b	CLIP-seq
MIRT824732	hsa-miR-302c	CLIP-seq
MIRT824733	hsa-miR-302d	CLIP-seq
MIRT824734	hsa-miR-302e	CLIP-seq
MIRT824735	hsa-miR-3064-5p	CLIP-seq
MIRT824736	hsa-miR-3065-5p	CLIP-seq
MIRT824737	hsa-miR-3122	CLIP-seq
MIRT824738	hsa-miR-3126-3p	CLIP-seq
MIRT824739	hsa-miR-3129-3p	CLIP-seq
MIRT824740	hsa-miR-3135b	CLIP-seq
MIRT824741	hsa-miR-3136-5p	CLIP-seq
MIRT824742	hsa-miR-3143	CLIP-seq
MIRT824743	hsa-miR-3149	CLIP-seq
MIRT824744	hsa-miR-3150b-3p	CLIP-seq
MIRT824745	hsa-miR-3156-3p	CLIP-seq
MIRT824746	hsa-miR-3157-3p	CLIP-seq
MIRT824747	hsa-miR-3162-5p	CLIP-seq
MIRT824748	hsa-miR-3179	CLIP-seq
MIRT824749	hsa-miR-3199	CLIP-seq
MIRT824750	hsa-miR-325	CLIP-seq
MIRT824751	hsa-miR-330-3p	CLIP-seq
MIRT824752	hsa-miR-33a	CLIP-seq
MIRT824753	hsa-miR-33b	CLIP-seq
MIRT824754	hsa-miR-340	CLIP-seq
MIRT824755	hsa-miR-34b	CLIP-seq
MIRT824756	hsa-miR-3612	CLIP-seq
MIRT824757	hsa-miR-3620	CLIP-seq
MIRT824758	hsa-miR-3652	CLIP-seq
MIRT824759	hsa-miR-3653	CLIP-seq
MIRT824760	hsa-miR-3658	CLIP-seq
MIRT824761	hsa-miR-3667-3p	CLIP-seq
MIRT824762	hsa-miR-3672	CLIP-seq
MIRT824763	hsa-miR-3673	CLIP-seq
MIRT824764	hsa-miR-3689a-3p	CLIP-seq
MIRT824765	hsa-miR-3689c	CLIP-seq
MIRT824766	hsa-miR-3692	CLIP-seq
MIRT824767	hsa-miR-369-3p	CLIP-seq
MIRT824768	hsa-miR-371b-3p	CLIP-seq
MIRT824769	hsa-miR-372	CLIP-seq
MIRT824770	hsa-miR-373	CLIP-seq
MIRT824771	hsa-miR-3907	CLIP-seq
MIRT824772	hsa-miR-3913-5p	CLIP-seq
MIRT824773	hsa-miR-3915	CLIP-seq
MIRT824774	hsa-miR-3919	CLIP-seq
MIRT824775	hsa-miR-3921	CLIP-seq
MIRT824776	hsa-miR-3924	CLIP-seq
MIRT824777	hsa-miR-3925-5p	CLIP-seq
MIRT824778	hsa-miR-3926	CLIP-seq
MIRT824779	hsa-miR-3938	CLIP-seq
MIRT824780	hsa-miR-3978	CLIP-seq
MIRT824781	hsa-miR-409-3p	CLIP-seq
MIRT824782	hsa-miR-411	CLIP-seq
MIRT824783	hsa-miR-425	CLIP-seq
MIRT824784	hsa-miR-4252	CLIP-seq
MIRT824785	hsa-miR-4258	CLIP-seq
MIRT824786	hsa-miR-4272	CLIP-seq
MIRT824787	hsa-miR-4279	CLIP-seq
MIRT824788	hsa-miR-4282	CLIP-seq
MIRT824789	hsa-miR-4293	CLIP-seq
MIRT824790	hsa-miR-4302	CLIP-seq
MIRT824791	hsa-miR-4305	CLIP-seq
MIRT824792	hsa-miR-4307	CLIP-seq
MIRT824793	hsa-miR-4319	CLIP-seq
MIRT824794	hsa-miR-432	CLIP-seq
MIRT824795	hsa-miR-4324	CLIP-seq
MIRT824796	hsa-miR-4328	CLIP-seq
MIRT824797	hsa-miR-4329	CLIP-seq
MIRT824798	hsa-miR-4422	CLIP-seq
MIRT824799	hsa-miR-4430	CLIP-seq
MIRT824800	hsa-miR-4433	CLIP-seq
MIRT824801	hsa-miR-4438	CLIP-seq
MIRT824802	hsa-miR-4439	CLIP-seq
MIRT824803	hsa-miR-4454	CLIP-seq
MIRT824804	hsa-miR-4455	CLIP-seq
MIRT824805	hsa-miR-4458	CLIP-seq
MIRT824806	hsa-miR-4459	CLIP-seq
MIRT824807	hsa-miR-4463	CLIP-seq
MIRT824808	hsa-miR-4495	CLIP-seq
MIRT824809	hsa-miR-4499	CLIP-seq
MIRT824810	hsa-miR-4500	CLIP-seq
MIRT824811	hsa-miR-4505	CLIP-seq
MIRT824812	hsa-miR-4509	CLIP-seq
MIRT824813	hsa-miR-4513	CLIP-seq
MIRT824814	hsa-miR-4515	CLIP-seq
MIRT824815	hsa-miR-4517	CLIP-seq
MIRT824816	hsa-miR-451b	CLIP-seq
MIRT824817	hsa-miR-4521	CLIP-seq
MIRT824818	hsa-miR-4529-3p	CLIP-seq
MIRT824819	hsa-miR-4532	CLIP-seq
MIRT824820	hsa-miR-4637	CLIP-seq
MIRT824821	hsa-miR-4642	CLIP-seq
MIRT824822	hsa-miR-4653-5p	CLIP-seq
MIRT824823	hsa-miR-4661-3p	CLIP-seq
MIRT824824	hsa-miR-4668-3p	CLIP-seq
MIRT824825	hsa-miR-4689	CLIP-seq
MIRT824826	hsa-miR-4694-3p	CLIP-seq
MIRT824827	hsa-miR-4695-3p	CLIP-seq
MIRT824828	hsa-miR-4695-5p	CLIP-seq
MIRT824829	hsa-miR-4696	CLIP-seq
MIRT824830	hsa-miR-4699-3p	CLIP-seq
MIRT824831	hsa-miR-4707-3p	CLIP-seq
MIRT824832	hsa-miR-4709-3p	CLIP-seq
MIRT824833	hsa-miR-4722-3p	CLIP-seq
MIRT824834	hsa-miR-4728-5p	CLIP-seq
MIRT824835	hsa-miR-4730	CLIP-seq
MIRT824836	hsa-miR-4732-3p	CLIP-seq
MIRT824837	hsa-miR-4733-5p	CLIP-seq
MIRT824838	hsa-miR-4735-5p	CLIP-seq
MIRT824839	hsa-miR-4738-3p	CLIP-seq
MIRT824840	hsa-miR-4739	CLIP-seq
MIRT824841	hsa-miR-4740-5p	CLIP-seq
MIRT824842	hsa-miR-4744	CLIP-seq
MIRT824843	hsa-miR-4751	CLIP-seq
MIRT824844	hsa-miR-4756-5p	CLIP-seq
MIRT824845	hsa-miR-4760-5p	CLIP-seq
MIRT824846	hsa-miR-4766-5p	CLIP-seq
MIRT824847	hsa-miR-4775	CLIP-seq
MIRT824848	hsa-miR-4777-5p	CLIP-seq
MIRT824849	hsa-miR-4784	CLIP-seq
MIRT824850	hsa-miR-4786-5p	CLIP-seq
MIRT824851	hsa-miR-4794	CLIP-seq
MIRT824852	hsa-miR-4797-5p	CLIP-seq
MIRT824853	hsa-miR-4803	CLIP-seq
MIRT824854	hsa-miR-483-5p	CLIP-seq
MIRT824855	hsa-miR-485-5p	CLIP-seq
MIRT824856	hsa-miR-494	CLIP-seq
MIRT824857	hsa-miR-495	CLIP-seq
MIRT824858	hsa-miR-508-5p	CLIP-seq
MIRT824859	hsa-miR-5095	CLIP-seq
MIRT824860	hsa-miR-5096	CLIP-seq
MIRT824861	hsa-miR-510	CLIP-seq
MIRT824862	hsa-miR-518d-5p	CLIP-seq
MIRT824863	hsa-miR-519a	CLIP-seq
MIRT824864	hsa-miR-519b-3p	CLIP-seq
MIRT824865	hsa-miR-519b-5p	CLIP-seq
MIRT824866	hsa-miR-519c-3p	CLIP-seq
MIRT824867	hsa-miR-519c-5p	CLIP-seq
MIRT824868	hsa-miR-520a-3p	CLIP-seq
MIRT824869	hsa-miR-520b	CLIP-seq
MIRT824870	hsa-miR-520c-3p	CLIP-seq
MIRT824871	hsa-miR-520c-5p	CLIP-seq
MIRT824872	hsa-miR-520d-3p	CLIP-seq
MIRT824873	hsa-miR-520d-5p	CLIP-seq
MIRT824874	hsa-miR-520e	CLIP-seq
MIRT824875	hsa-miR-522	CLIP-seq
MIRT824876	hsa-miR-524-5p	CLIP-seq
MIRT824877	hsa-miR-526a	CLIP-seq
MIRT824878	hsa-miR-541	CLIP-seq
MIRT824879	hsa-miR-544b	CLIP-seq
MIRT824880	hsa-miR-548ag	CLIP-seq
MIRT824881	hsa-miR-548ai	CLIP-seq
MIRT824882	hsa-miR-548l	CLIP-seq
MIRT824883	hsa-miR-548m	CLIP-seq
MIRT824884	hsa-miR-548o	CLIP-seq
MIRT824885	hsa-miR-548s	CLIP-seq
MIRT824886	hsa-miR-555	CLIP-seq
MIRT824887	hsa-miR-556-3p	CLIP-seq
MIRT824888	hsa-miR-569	CLIP-seq
MIRT824889	hsa-miR-570	CLIP-seq
MIRT824890	hsa-miR-576-3p	CLIP-seq
MIRT824891	hsa-miR-577	CLIP-seq
MIRT824892	hsa-miR-579	CLIP-seq
MIRT824893	hsa-miR-583	CLIP-seq
MIRT824894	hsa-miR-589	CLIP-seq
MIRT824895	hsa-miR-590-3p	CLIP-seq
MIRT824896	hsa-miR-597	CLIP-seq
MIRT824897	hsa-miR-598	CLIP-seq
MIRT824898	hsa-miR-607	CLIP-seq
MIRT824899	hsa-miR-619	CLIP-seq
MIRT824900	hsa-miR-628-3p	CLIP-seq
MIRT824901	hsa-miR-633	CLIP-seq
MIRT824902	hsa-miR-645	CLIP-seq
MIRT824903	hsa-miR-650	CLIP-seq
MIRT824904	hsa-miR-654-5p	CLIP-seq
MIRT824905	hsa-miR-659	CLIP-seq
MIRT824906	hsa-miR-668	CLIP-seq
MIRT824907	hsa-miR-670	CLIP-seq
MIRT824908	hsa-miR-7	CLIP-seq
MIRT824909	hsa-miR-766	CLIP-seq
MIRT824910	hsa-miR-769-5p	CLIP-seq
MIRT824911	hsa-miR-891b	CLIP-seq
MIRT824912	hsa-miR-944	CLIP-seq
MIRT824913	hsa-miR-96	CLIP-seq
MIRT824914	hsa-miR-98	CLIP-seq
MIRT824785	hsa-miR-4258	CLIP-seq
MIRT824801	hsa-miR-4438	CLIP-seq
MIRT824831	hsa-miR-4707-3p	CLIP-seq
MIRT824838	hsa-miR-4735-5p	CLIP-seq
MIRT824847	hsa-miR-4775	CLIP-seq
MIRT824851	hsa-miR-4794	CLIP-seq
MIRT824859	hsa-miR-5095	CLIP-seq
MIRT824895	hsa-miR-590-3p	CLIP-seq
MIRT1943811	hsa-miR-106a	CLIP-seq
MIRT1943812	hsa-miR-106b	CLIP-seq
MIRT824680	hsa-miR-1193	CLIP-seq
MIRT824681	hsa-miR-1200	CLIP-seq
MIRT824682	hsa-miR-122	CLIP-seq
MIRT824684	hsa-miR-1228	CLIP-seq
MIRT1943813	hsa-miR-1234	CLIP-seq
MIRT824686	hsa-miR-1255a	CLIP-seq
MIRT824687	hsa-miR-1255b	CLIP-seq
MIRT824689	hsa-miR-125a-5p	CLIP-seq
MIRT824690	hsa-miR-125b	CLIP-seq
MIRT824693	hsa-miR-1261	CLIP-seq
MIRT824701	hsa-miR-128	CLIP-seq
MIRT824704	hsa-miR-129-5p	CLIP-seq
MIRT1943814	hsa-miR-1307	CLIP-seq
MIRT824709	hsa-miR-142-5p	CLIP-seq
MIRT1943815	hsa-miR-150	CLIP-seq
MIRT1943816	hsa-miR-17	CLIP-seq
MIRT824717	hsa-miR-1976	CLIP-seq
MIRT824720	hsa-miR-2053	CLIP-seq
MIRT1943817	hsa-miR-20a	CLIP-seq
MIRT1943818	hsa-miR-20b	CLIP-seq
MIRT1943819	hsa-miR-22	CLIP-seq
MIRT1943820	hsa-miR-2276	CLIP-seq
MIRT824722	hsa-miR-2392	CLIP-seq
MIRT1943821	hsa-miR-24	CLIP-seq
MIRT824724	hsa-miR-27a	CLIP-seq
MIRT824725	hsa-miR-27b	CLIP-seq
MIRT824730	hsa-miR-302a	CLIP-seq
MIRT824731	hsa-miR-302b	CLIP-seq
MIRT824732	hsa-miR-302c	CLIP-seq
MIRT824733	hsa-miR-302d	CLIP-seq
MIRT824734	hsa-miR-302e	CLIP-seq
MIRT824736	hsa-miR-3065-5p	CLIP-seq
MIRT1943822	hsa-miR-3121-5p	CLIP-seq
MIRT824737	hsa-miR-3122	CLIP-seq
MIRT824739	hsa-miR-3129-3p	CLIP-seq
MIRT824740	hsa-miR-3135b	CLIP-seq
MIRT824741	hsa-miR-3136-5p	CLIP-seq
MIRT824742	hsa-miR-3143	CLIP-seq
MIRT824743	hsa-miR-3149	CLIP-seq
MIRT1943823	hsa-miR-3156-5p	CLIP-seq
MIRT1943824	hsa-miR-3163	CLIP-seq
MIRT824748	hsa-miR-3179	CLIP-seq
MIRT824749	hsa-miR-3199	CLIP-seq
MIRT824754	hsa-miR-340	CLIP-seq
MIRT824757	hsa-miR-3620	CLIP-seq
MIRT824758	hsa-miR-3652	CLIP-seq
MIRT1943825	hsa-miR-3668	CLIP-seq
MIRT824762	hsa-miR-3672	CLIP-seq
MIRT1943826	hsa-miR-3680	CLIP-seq
MIRT824764	hsa-miR-3689a-3p	CLIP-seq
MIRT824765	hsa-miR-3689c	CLIP-seq
MIRT824769	hsa-miR-372	CLIP-seq
MIRT824770	hsa-miR-373	CLIP-seq
MIRT824772	hsa-miR-3913-5p	CLIP-seq
MIRT824776	hsa-miR-3924	CLIP-seq
MIRT824777	hsa-miR-3925-5p	CLIP-seq
MIRT824779	hsa-miR-3938	CLIP-seq
MIRT1943827	hsa-miR-4255	CLIP-seq
MIRT824785	hsa-miR-4258	CLIP-seq
MIRT1943828	hsa-miR-4263	CLIP-seq
MIRT1943829	hsa-miR-4277	CLIP-seq
MIRT824787	hsa-miR-4279	CLIP-seq
MIRT824788	hsa-miR-4282	CLIP-seq
MIRT1943830	hsa-miR-4284	CLIP-seq
MIRT824790	hsa-miR-4302	CLIP-seq
MIRT824793	hsa-miR-4319	CLIP-seq
MIRT824794	hsa-miR-432	CLIP-seq
MIRT824795	hsa-miR-4324	CLIP-seq
MIRT1943831	hsa-miR-4325	CLIP-seq
MIRT824797	hsa-miR-4329	CLIP-seq
MIRT824799	hsa-miR-4430	CLIP-seq
MIRT824800	hsa-miR-4433	CLIP-seq
MIRT1943832	hsa-miR-4436b-3p	CLIP-seq
MIRT824801	hsa-miR-4438	CLIP-seq
MIRT824802	hsa-miR-4439	CLIP-seq
MIRT824803	hsa-miR-4454	CLIP-seq
MIRT824804	hsa-miR-4455	CLIP-seq
MIRT824806	hsa-miR-4459	CLIP-seq
MIRT824807	hsa-miR-4463	CLIP-seq
MIRT1943833	hsa-miR-4496	CLIP-seq
MIRT824813	hsa-miR-4513	CLIP-seq
MIRT824815	hsa-miR-4517	CLIP-seq
MIRT824817	hsa-miR-4521	CLIP-seq
MIRT824819	hsa-miR-4532	CLIP-seq
MIRT1943834	hsa-miR-4638-5p	CLIP-seq
MIRT824826	hsa-miR-4694-3p	CLIP-seq
MIRT824828	hsa-miR-4695-5p	CLIP-seq
MIRT1943835	hsa-miR-4698	CLIP-seq
MIRT824830	hsa-miR-4699-3p	CLIP-seq
MIRT824831	hsa-miR-4707-3p	CLIP-seq
MIRT824832	hsa-miR-4709-3p	CLIP-seq
MIRT824833	hsa-miR-4722-3p	CLIP-seq
MIRT1943836	hsa-miR-4724-3p	CLIP-seq
MIRT824834	hsa-miR-4728-5p	CLIP-seq
MIRT824836	hsa-miR-4732-3p	CLIP-seq
MIRT824837	hsa-miR-4733-5p	CLIP-seq
MIRT824838	hsa-miR-4735-5p	CLIP-seq
MIRT824839	hsa-miR-4738-3p	CLIP-seq
MIRT1943837	hsa-miR-4766-3p	CLIP-seq
MIRT824847	hsa-miR-4775	CLIP-seq
MIRT824851	hsa-miR-4794	CLIP-seq
MIRT824852	hsa-miR-4797-5p	CLIP-seq
MIRT1943838	hsa-miR-4798-3p	CLIP-seq
MIRT1943839	hsa-miR-4799-5p	CLIP-seq
MIRT824853	hsa-miR-4803	CLIP-seq
MIRT824855	hsa-miR-485-5p	CLIP-seq
MIRT824856	hsa-miR-494	CLIP-seq
MIRT1943840	hsa-miR-507	CLIP-seq
MIRT824859	hsa-miR-5095	CLIP-seq
MIRT824860	hsa-miR-5096	CLIP-seq
MIRT1943841	hsa-miR-512-3p	CLIP-seq
MIRT1943842	hsa-miR-513a-3p	CLIP-seq
MIRT1943843	hsa-miR-513a-5p	CLIP-seq
MIRT1943844	hsa-miR-519d	CLIP-seq
MIRT824868	hsa-miR-520a-3p	CLIP-seq
MIRT824869	hsa-miR-520b	CLIP-seq
MIRT824870	hsa-miR-520c-3p	CLIP-seq
MIRT824872	hsa-miR-520d-3p	CLIP-seq
MIRT824873	hsa-miR-520d-5p	CLIP-seq
MIRT824874	hsa-miR-520e	CLIP-seq
MIRT1943845	hsa-miR-520g	CLIP-seq
MIRT1943846	hsa-miR-520h	CLIP-seq
MIRT824876	hsa-miR-524-5p	CLIP-seq
MIRT824878	hsa-miR-541	CLIP-seq
MIRT1943847	hsa-miR-544	CLIP-seq
MIRT824879	hsa-miR-544b	CLIP-seq
MIRT1943848	hsa-miR-548p	CLIP-seq
MIRT1943849	hsa-miR-554	CLIP-seq
MIRT824886	hsa-miR-555	CLIP-seq
MIRT824887	hsa-miR-556-3p	CLIP-seq
MIRT1943850	hsa-miR-557	CLIP-seq
MIRT824888	hsa-miR-569	CLIP-seq
MIRT824889	hsa-miR-570	CLIP-seq
MIRT1943851	hsa-miR-576-5p	CLIP-seq
MIRT824893	hsa-miR-583	CLIP-seq
MIRT824894	hsa-miR-589	CLIP-seq
MIRT824895	hsa-miR-590-3p	CLIP-seq
MIRT1943852	hsa-miR-629	CLIP-seq
MIRT824904	hsa-miR-654-5p	CLIP-seq
MIRT824907	hsa-miR-670	CLIP-seq
MIRT824911	hsa-miR-891b	CLIP-seq
MIRT1943853	hsa-miR-93	CLIP-seq
MIRT824912	hsa-miR-944	CLIP-seq
MIRT824681	hsa-miR-1200	CLIP-seq
MIRT824682	hsa-miR-122	CLIP-seq
MIRT824684	hsa-miR-1228	CLIP-seq
MIRT824691	hsa-miR-1260	CLIP-seq
MIRT824692	hsa-miR-1260b	CLIP-seq
MIRT824701	hsa-miR-128	CLIP-seq
MIRT2182518	hsa-miR-1305	CLIP-seq
MIRT1943814	hsa-miR-1307	CLIP-seq
MIRT824709	hsa-miR-142-5p	CLIP-seq
MIRT824714	hsa-miR-1827	CLIP-seq
MIRT824716	hsa-miR-188-3p	CLIP-seq
MIRT824717	hsa-miR-1976	CLIP-seq
MIRT824721	hsa-miR-2114	CLIP-seq
MIRT1943820	hsa-miR-2276	CLIP-seq
MIRT1943821	hsa-miR-24	CLIP-seq
MIRT824724	hsa-miR-27a	CLIP-seq
MIRT824725	hsa-miR-27b	CLIP-seq
MIRT824728	hsa-miR-297	CLIP-seq
MIRT2182519	hsa-miR-300	CLIP-seq
MIRT824737	hsa-miR-3122	CLIP-seq
MIRT824738	hsa-miR-3126-3p	CLIP-seq
MIRT824740	hsa-miR-3135b	CLIP-seq
MIRT824743	hsa-miR-3149	CLIP-seq
MIRT824745	hsa-miR-3156-3p	CLIP-seq
MIRT1943824	hsa-miR-3163	CLIP-seq
MIRT2182520	hsa-miR-3194-5p	CLIP-seq
MIRT824749	hsa-miR-3199	CLIP-seq
MIRT824754	hsa-miR-340	CLIP-seq
MIRT2182521	hsa-miR-342-3p	CLIP-seq
MIRT2182522	hsa-miR-3622b-5p	CLIP-seq
MIRT824758	hsa-miR-3652	CLIP-seq
MIRT824761	hsa-miR-3667-3p	CLIP-seq
MIRT824762	hsa-miR-3672	CLIP-seq
MIRT824763	hsa-miR-3673	CLIP-seq
MIRT824764	hsa-miR-3689a-3p	CLIP-seq
MIRT824765	hsa-miR-3689c	CLIP-seq
MIRT2182523	hsa-miR-381	CLIP-seq
MIRT824772	hsa-miR-3913-5p	CLIP-seq
MIRT2182524	hsa-miR-421	CLIP-seq
MIRT824785	hsa-miR-4258	CLIP-seq
MIRT2182525	hsa-miR-4275	CLIP-seq
MIRT1943829	hsa-miR-4277	CLIP-seq
MIRT824787	hsa-miR-4279	CLIP-seq
MIRT1943830	hsa-miR-4284	CLIP-seq
MIRT824789	hsa-miR-4293	CLIP-seq
MIRT2182526	hsa-miR-4301	CLIP-seq
MIRT2182527	hsa-miR-4318	CLIP-seq
MIRT824795	hsa-miR-4324	CLIP-seq
MIRT1943831	hsa-miR-4325	CLIP-seq
MIRT824799	hsa-miR-4430	CLIP-seq
MIRT824800	hsa-miR-4433	CLIP-seq
MIRT824801	hsa-miR-4438	CLIP-seq
MIRT824806	hsa-miR-4459	CLIP-seq
MIRT824807	hsa-miR-4463	CLIP-seq
MIRT2182528	hsa-miR-4464	CLIP-seq
MIRT2182529	hsa-miR-4474-3p	CLIP-seq
MIRT824819	hsa-miR-4532	CLIP-seq
MIRT1943834	hsa-miR-4638-5p	CLIP-seq
MIRT2182530	hsa-miR-4645-5p	CLIP-seq
MIRT2182531	hsa-miR-4666-3p	CLIP-seq
MIRT2182532	hsa-miR-4673	CLIP-seq
MIRT824828	hsa-miR-4695-5p	CLIP-seq
MIRT824831	hsa-miR-4707-3p	CLIP-seq
MIRT2182533	hsa-miR-4709-5p	CLIP-seq
MIRT2182534	hsa-miR-4717-5p	CLIP-seq
MIRT824833	hsa-miR-4722-3p	CLIP-seq
MIRT824834	hsa-miR-4728-5p	CLIP-seq
MIRT824837	hsa-miR-4733-5p	CLIP-seq
MIRT2182535	hsa-miR-4748	CLIP-seq
MIRT2182536	hsa-miR-4755-3p	CLIP-seq
MIRT824847	hsa-miR-4775	CLIP-seq
MIRT2182537	hsa-miR-4777-3p	CLIP-seq
MIRT824850	hsa-miR-4786-5p	CLIP-seq
MIRT2182538	hsa-miR-4789-5p	CLIP-seq
MIRT824851	hsa-miR-4794	CLIP-seq
MIRT2182539	hsa-miR-4795-3p	CLIP-seq
MIRT824855	hsa-miR-485-5p	CLIP-seq
MIRT824858	hsa-miR-508-5p	CLIP-seq
MIRT824859	hsa-miR-5095	CLIP-seq
MIRT824861	hsa-miR-510	CLIP-seq
MIRT2182540	hsa-miR-532-3p	CLIP-seq
MIRT824878	hsa-miR-541	CLIP-seq
MIRT1943847	hsa-miR-544	CLIP-seq
MIRT824879	hsa-miR-544b	CLIP-seq
MIRT824886	hsa-miR-555	CLIP-seq
MIRT824893	hsa-miR-583	CLIP-seq
MIRT824895	hsa-miR-590-3p	CLIP-seq
MIRT824904	hsa-miR-654-5p	CLIP-seq
MIRT824905	hsa-miR-659	CLIP-seq
MIRT824909	hsa-miR-766	CLIP-seq
MIRT824910	hsa-miR-769-5p	CLIP-seq
MIRT824911	hsa-miR-891b	CLIP-seq
MIRT824684	hsa-miR-1228	CLIP-seq
MIRT1943814	hsa-miR-1307	CLIP-seq
MIRT824709	hsa-miR-142-5p	CLIP-seq
MIRT824717	hsa-miR-1976	CLIP-seq
MIRT824721	hsa-miR-2114	CLIP-seq
MIRT1943820	hsa-miR-2276	CLIP-seq
MIRT824737	hsa-miR-3122	CLIP-seq
MIRT824754	hsa-miR-340	CLIP-seq
MIRT824762	hsa-miR-3672	CLIP-seq
MIRT824764	hsa-miR-3689a-3p	CLIP-seq
MIRT824765	hsa-miR-3689c	CLIP-seq
MIRT824772	hsa-miR-3913-5p	CLIP-seq
MIRT824778	hsa-miR-3926	CLIP-seq
MIRT824787	hsa-miR-4279	CLIP-seq
MIRT1943830	hsa-miR-4284	CLIP-seq
MIRT824800	hsa-miR-4433	CLIP-seq
MIRT824806	hsa-miR-4459	CLIP-seq
MIRT824807	hsa-miR-4463	CLIP-seq
MIRT824819	hsa-miR-4532	CLIP-seq
MIRT1943834	hsa-miR-4638-5p	CLIP-seq
MIRT824834	hsa-miR-4728-5p	CLIP-seq
MIRT824850	hsa-miR-4786-5p	CLIP-seq
MIRT824861	hsa-miR-510	CLIP-seq
MIRT824878	hsa-miR-541	CLIP-seq
MIRT824885	hsa-miR-548s	CLIP-seq
MIRT824886	hsa-miR-555	CLIP-seq
MIRT824904	hsa-miR-654-5p	CLIP-seq
MIRT824910	hsa-miR-769-5p	CLIP-seq
MIRT2444889	hsa-miR-1253	CLIP-seq
MIRT2444890	hsa-miR-1285	CLIP-seq
MIRT824704	hsa-miR-129-5p	CLIP-seq
MIRT824708	hsa-miR-139-3p	CLIP-seq
MIRT824709	hsa-miR-142-5p	CLIP-seq
MIRT2444891	hsa-miR-185	CLIP-seq
MIRT824737	hsa-miR-3122	CLIP-seq
MIRT824743	hsa-miR-3149	CLIP-seq
MIRT824745	hsa-miR-3156-3p	CLIP-seq
MIRT2444892	hsa-miR-3187-5p	CLIP-seq
MIRT824754	hsa-miR-340	CLIP-seq
MIRT2444893	hsa-miR-3675-3p	CLIP-seq
MIRT824764	hsa-miR-3689a-3p	CLIP-seq
MIRT824765	hsa-miR-3689c	CLIP-seq
MIRT824772	hsa-miR-3913-5p	CLIP-seq
MIRT824782	hsa-miR-411	CLIP-seq
MIRT824785	hsa-miR-4258	CLIP-seq
MIRT2182525	hsa-miR-4275	CLIP-seq
MIRT2182526	hsa-miR-4301	CLIP-seq
MIRT2444894	hsa-miR-4306	CLIP-seq
MIRT824807	hsa-miR-4463	CLIP-seq
MIRT2444895	hsa-miR-4644	CLIP-seq
MIRT2444896	hsa-miR-4661-5p	CLIP-seq
MIRT2444897	hsa-miR-4684-5p	CLIP-seq
MIRT2444898	hsa-miR-4693-3p	CLIP-seq
MIRT824831	hsa-miR-4707-3p	CLIP-seq
MIRT2444899	hsa-miR-4712-3p	CLIP-seq
MIRT824834	hsa-miR-4728-5p	CLIP-seq
MIRT824837	hsa-miR-4733-5p	CLIP-seq
MIRT824838	hsa-miR-4735-5p	CLIP-seq
MIRT824847	hsa-miR-4775	CLIP-seq
MIRT2182537	hsa-miR-4777-3p	CLIP-seq
MIRT824851	hsa-miR-4794	CLIP-seq
MIRT824854	hsa-miR-483-5p	CLIP-seq
MIRT2182540	hsa-miR-532-3p	CLIP-seq
MIRT824878	hsa-miR-541	CLIP-seq
MIRT2444900	hsa-miR-548ae	CLIP-seq
MIRT2444901	hsa-miR-548aj	CLIP-seq
MIRT2444902	hsa-miR-548am	CLIP-seq
MIRT2444903	hsa-miR-548c-3p	CLIP-seq
MIRT2444904	hsa-miR-548x	CLIP-seq
MIRT824886	hsa-miR-555	CLIP-seq
MIRT824893	hsa-miR-583	CLIP-seq
MIRT824894	hsa-miR-589	CLIP-seq
MIRT824895	hsa-miR-590-3p	CLIP-seq
MIRT2444905	hsa-miR-612	CLIP-seq
MIRT824904	hsa-miR-654-5p	CLIP-seq
MIRT824704	hsa-miR-129-5p	CLIP-seq
MIRT824709	hsa-miR-142-5p	CLIP-seq
MIRT824737	hsa-miR-3122	CLIP-seq
MIRT824743	hsa-miR-3149	CLIP-seq
MIRT824749	hsa-miR-3199	CLIP-seq
MIRT824754	hsa-miR-340	CLIP-seq
MIRT824764	hsa-miR-3689a-3p	CLIP-seq
MIRT824765	hsa-miR-3689c	CLIP-seq
MIRT824772	hsa-miR-3913-5p	CLIP-seq
MIRT824782	hsa-miR-411	CLIP-seq
MIRT824785	hsa-miR-4258	CLIP-seq
MIRT824807	hsa-miR-4463	CLIP-seq
MIRT824831	hsa-miR-4707-3p	CLIP-seq
MIRT824834	hsa-miR-4728-5p	CLIP-seq
MIRT824837	hsa-miR-4733-5p	CLIP-seq
MIRT824838	hsa-miR-4735-5p	CLIP-seq
MIRT824847	hsa-miR-4775	CLIP-seq
MIRT824851	hsa-miR-4794	CLIP-seq
MIRT824854	hsa-miR-483-5p	CLIP-seq
MIRT824878	hsa-miR-541	CLIP-seq
MIRT824886	hsa-miR-555	CLIP-seq
MIRT824893	hsa-miR-583	CLIP-seq
MIRT824894	hsa-miR-589	CLIP-seq
MIRT824895	hsa-miR-590-3p	CLIP-seq
MIRT824904	hsa-miR-654-5p	CLIP-seq
MIRT824681	hsa-miR-1200	CLIP-seq
MIRT824682	hsa-miR-122	CLIP-seq
MIRT824684	hsa-miR-1228	CLIP-seq
MIRT2444890	hsa-miR-1285	CLIP-seq
MIRT824704	hsa-miR-129-5p	CLIP-seq
MIRT1943814	hsa-miR-1307	CLIP-seq
MIRT824706	hsa-miR-1321	CLIP-seq
MIRT824709	hsa-miR-142-5p	CLIP-seq
MIRT824714	hsa-miR-1827	CLIP-seq
MIRT824717	hsa-miR-1976	CLIP-seq
MIRT824719	hsa-miR-2052	CLIP-seq
MIRT2486178	hsa-miR-217	CLIP-seq
MIRT1943820	hsa-miR-2276	CLIP-seq
MIRT2486179	hsa-miR-2467-3p	CLIP-seq
MIRT824737	hsa-miR-3122	CLIP-seq
MIRT824740	hsa-miR-3135b	CLIP-seq
MIRT824743	hsa-miR-3149	CLIP-seq
MIRT1943823	hsa-miR-3156-5p	CLIP-seq
MIRT824747	hsa-miR-3162-5p	CLIP-seq
MIRT2444892	hsa-miR-3187-5p	CLIP-seq
MIRT824749	hsa-miR-3199	CLIP-seq
MIRT824754	hsa-miR-340	CLIP-seq
MIRT824756	hsa-miR-3612	CLIP-seq
MIRT824758	hsa-miR-3652	CLIP-seq
MIRT824762	hsa-miR-3672	CLIP-seq
MIRT2444893	hsa-miR-3675-3p	CLIP-seq
MIRT824764	hsa-miR-3689a-3p	CLIP-seq
MIRT824765	hsa-miR-3689c	CLIP-seq
MIRT824772	hsa-miR-3913-5p	CLIP-seq
MIRT824778	hsa-miR-3926	CLIP-seq
MIRT824781	hsa-miR-409-3p	CLIP-seq
MIRT824782	hsa-miR-411	CLIP-seq
MIRT2486180	hsa-miR-4257	CLIP-seq
MIRT824785	hsa-miR-4258	CLIP-seq
MIRT824787	hsa-miR-4279	CLIP-seq
MIRT1943830	hsa-miR-4284	CLIP-seq
MIRT824792	hsa-miR-4307	CLIP-seq
MIRT824795	hsa-miR-4324	CLIP-seq
MIRT824799	hsa-miR-4430	CLIP-seq
MIRT824800	hsa-miR-4433	CLIP-seq
MIRT824801	hsa-miR-4438	CLIP-seq
MIRT824806	hsa-miR-4459	CLIP-seq
MIRT824807	hsa-miR-4463	CLIP-seq
MIRT824819	hsa-miR-4532	CLIP-seq
MIRT1943834	hsa-miR-4638-5p	CLIP-seq
MIRT2444896	hsa-miR-4661-5p	CLIP-seq
MIRT2444897	hsa-miR-4684-5p	CLIP-seq
MIRT824831	hsa-miR-4707-3p	CLIP-seq
MIRT824833	hsa-miR-4722-3p	CLIP-seq
MIRT824834	hsa-miR-4728-5p	CLIP-seq
MIRT824837	hsa-miR-4733-5p	CLIP-seq
MIRT824838	hsa-miR-4735-5p	CLIP-seq
MIRT2486181	hsa-miR-4737	CLIP-seq
MIRT824840	hsa-miR-4739	CLIP-seq
MIRT824844	hsa-miR-4756-5p	CLIP-seq
MIRT824847	hsa-miR-4775	CLIP-seq
MIRT824850	hsa-miR-4786-5p	CLIP-seq
MIRT824851	hsa-miR-4794	CLIP-seq
MIRT824854	hsa-miR-483-5p	CLIP-seq
MIRT824859	hsa-miR-5095	CLIP-seq
MIRT824860	hsa-miR-5096	CLIP-seq
MIRT824878	hsa-miR-541	CLIP-seq
MIRT824879	hsa-miR-544b	CLIP-seq
MIRT2444900	hsa-miR-548ae	CLIP-seq
MIRT2444901	hsa-miR-548aj	CLIP-seq
MIRT2444902	hsa-miR-548am	CLIP-seq
MIRT2444903	hsa-miR-548c-3p	CLIP-seq
MIRT824885	hsa-miR-548s	CLIP-seq
MIRT2444904	hsa-miR-548x	CLIP-seq
MIRT824886	hsa-miR-555	CLIP-seq
MIRT824893	hsa-miR-583	CLIP-seq
MIRT824894	hsa-miR-589	CLIP-seq
MIRT824895	hsa-miR-590-3p	CLIP-seq
MIRT2444905	hsa-miR-612	CLIP-seq
MIRT824903	hsa-miR-650	CLIP-seq
MIRT824904	hsa-miR-654-5p	CLIP-seq
MIRT2486182	hsa-miR-661	CLIP-seq
MIRT824910	hsa-miR-769-5p	CLIP-seq
MIRT824911	hsa-miR-891b	CLIP-seq
MIRT824681	hsa-miR-1200	CLIP-seq
MIRT824682	hsa-miR-122	CLIP-seq
MIRT824684	hsa-miR-1228	CLIP-seq
MIRT2444890	hsa-miR-1285	CLIP-seq
MIRT824704	hsa-miR-129-5p	CLIP-seq
MIRT1943814	hsa-miR-1307	CLIP-seq
MIRT824706	hsa-miR-1321	CLIP-seq
MIRT824709	hsa-miR-142-5p	CLIP-seq
MIRT824714	hsa-miR-1827	CLIP-seq
MIRT824717	hsa-miR-1976	CLIP-seq
MIRT1943820	hsa-miR-2276	CLIP-seq
MIRT824737	hsa-miR-3122	CLIP-seq
MIRT824740	hsa-miR-3135b	CLIP-seq
MIRT824743	hsa-miR-3149	CLIP-seq
MIRT824747	hsa-miR-3162-5p	CLIP-seq
MIRT2444892	hsa-miR-3187-5p	CLIP-seq
MIRT824749	hsa-miR-3199	CLIP-seq
MIRT824754	hsa-miR-340	CLIP-seq
MIRT824756	hsa-miR-3612	CLIP-seq
MIRT824758	hsa-miR-3652	CLIP-seq
MIRT824762	hsa-miR-3672	CLIP-seq
MIRT2444893	hsa-miR-3675-3p	CLIP-seq
MIRT824764	hsa-miR-3689a-3p	CLIP-seq
MIRT824765	hsa-miR-3689c	CLIP-seq
MIRT824772	hsa-miR-3913-5p	CLIP-seq
MIRT824778	hsa-miR-3926	CLIP-seq
MIRT824782	hsa-miR-411	CLIP-seq
MIRT824785	hsa-miR-4258	CLIP-seq
MIRT824787	hsa-miR-4279	CLIP-seq
MIRT1943830	hsa-miR-4284	CLIP-seq
MIRT824795	hsa-miR-4324	CLIP-seq
MIRT824799	hsa-miR-4430	CLIP-seq
MIRT824800	hsa-miR-4433	CLIP-seq
MIRT824801	hsa-miR-4438	CLIP-seq
MIRT824806	hsa-miR-4459	CLIP-seq
MIRT824807	hsa-miR-4463	CLIP-seq
MIRT824819	hsa-miR-4532	CLIP-seq
MIRT1943834	hsa-miR-4638-5p	CLIP-seq
MIRT2444896	hsa-miR-4661-5p	CLIP-seq
MIRT2444897	hsa-miR-4684-5p	CLIP-seq
MIRT824831	hsa-miR-4707-3p	CLIP-seq
MIRT824833	hsa-miR-4722-3p	CLIP-seq
MIRT824834	hsa-miR-4728-5p	CLIP-seq
MIRT824837	hsa-miR-4733-5p	CLIP-seq
MIRT824838	hsa-miR-4735-5p	CLIP-seq
MIRT824840	hsa-miR-4739	CLIP-seq
MIRT824844	hsa-miR-4756-5p	CLIP-seq
MIRT824847	hsa-miR-4775	CLIP-seq
MIRT824850	hsa-miR-4786-5p	CLIP-seq
MIRT824851	hsa-miR-4794	CLIP-seq
MIRT824854	hsa-miR-483-5p	CLIP-seq
MIRT824859	hsa-miR-5095	CLIP-seq
MIRT824860	hsa-miR-5096	CLIP-seq
MIRT824878	hsa-miR-541	CLIP-seq
MIRT824879	hsa-miR-544b	CLIP-seq
MIRT2444900	hsa-miR-548ae	CLIP-seq
MIRT2444901	hsa-miR-548aj	CLIP-seq
MIRT2444902	hsa-miR-548am	CLIP-seq
MIRT2444903	hsa-miR-548c-3p	CLIP-seq
MIRT824885	hsa-miR-548s	CLIP-seq
MIRT2444904	hsa-miR-548x	CLIP-seq
MIRT824886	hsa-miR-555	CLIP-seq
MIRT824893	hsa-miR-583	CLIP-seq
MIRT824895	hsa-miR-590-3p	CLIP-seq
MIRT2444905	hsa-miR-612	CLIP-seq
MIRT824903	hsa-miR-650	CLIP-seq
MIRT824904	hsa-miR-654-5p	CLIP-seq
MIRT824910	hsa-miR-769-5p	CLIP-seq
MIRT824911	hsa-miR-891b	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOXM1	Unknown	23108394

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000077	Process	DNA damage checkpoint signaling	NAS	14576433
GO:0000166	Function	Nucleotide binding	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	NAS	15878853
GO:0003678	Function	DNA helicase activity	IBA
GO:0003678	Function	DNA helicase activity	IEA
GO:0003678	Function	DNA helicase activity	NAS	11301010
GO:0003724	Function	RNA helicase activity	IEA
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	11301010, 14576433, 15125843, 15133502, 17525340, 17581638, 18285836, 19369211, 21240188, 22792074, 23585563, 25502805, 29656893, 32296183, 33961781, 34591612
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	23585563
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	11301010, 22369660
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005657	Component	Replication fork	IDA	36608669
GO:0005737	Component	Cytoplasm	IDA	23585563
GO:0005737	Component	Cytoplasm	IEA
GO:0006139	Process	Nucleobase-containing compound metabolic process	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	NAS	22369660
GO:0006289	Process	Nucleotide-excision repair	IBA
GO:0006302	Process	Double-strand break repair	NAS	11301010
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA
GO:0006974	Process	DNA damage response	IEA
GO:0007129	Process	Homologous chromosome pairing at meiosis	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007284	Process	Spermatogonial cell division	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0010705	Process	Meiotic DNA double-strand break processing involved in reciprocal meiotic recombination	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016818	Function	Hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0031965	Component	Nuclear membrane	IDA
GO:0035825	Process	Homologous recombination	NAS	22369660
GO:0036297	Process	Interstrand cross-link repair	IDA	36608669
GO:0043139	Function	5'-3' DNA helicase activity	IDA	14983014, 36608669
GO:0046872	Function	Metal ion binding	IEA
GO:0051026	Process	Chiasma assembly	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:0070532	Component	BRCA1-B complex	IPI	16391231
GO:0072520	Process	Seminiferous tubule development	IEA
GO:0106300	Process	Protein-DNA covalent cross-linking repair	IDA	36608669
GO:0140640	Function	Catalytic activity, acting on a nucleic acid	IDA	18426915
GO:1990918	Process	Double-strand break repair involved in meiotic recombination	IBA
GO:1990918	Process	Double-strand break repair involved in meiotic recombination	IEA

Other IDs

• MIM: 605882
• HGNC: 20473
• e!Ensembl: ENSG00000136492

Protein

• UniProt ID: Q9BX63
• Protein name: Fanconi anemia group J protein (EC 5.6.2.3) (BRCA1-associated C-terminal helicase 1) (BRCA1-interacting protein C-terminal helicase 1) (BRCA1-interacting protein 1) (DNA 5'-3' helicase FANCJ)
• Protein function: DNA-dependent ATPase and 5'-3' DNA helicase required for the maintenance of chromosomal stability (PubMed:11301010, PubMed:14983014, PubMed:16116421, PubMed:16153896, PubMed:17596542, PubMed:36608669). Acts late in the Fanconi anemia pathway, af
• PDB: 1T15, 1T29, 3AL3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06733	DEAD_2	248 → 415	DEAD_2	Family
  PF13307	Helicase_C_2	680 → 867	Helicase C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in testis. {ECO:0000269|PubMed:11301010}.
• Sequence:

  MSSMWSEYTIGGVKIYFPYKAYPSQLAMMNSILRGLNSKQHCLLESPTGSGKSLALLCSA
  LAWQQSLSGKPADEGVSEKAEVQLSCCCACHSKDFTNNDMNQGTSRHFNYPSTPPSERNG
  TSSTCQDSPEKTTLAAKLSAKKQASIYRDENDDFQVEKKRIRPLETTQQIRKRHCFGTEV
  HNLDAKVDSGKTVKLNSPLEKINSFSPQKPPGHCSRCCCSTKQGNSQESSNTIKKDHTGK
  SKIPKIYFGTRTHKQIAQITRELRRTAYSGVPMTILSSRDHTCVHPEVVGNFNRNEKCME
  LLDGKNGKSCYFYHGVHKISDQHTLQTFQGMCKAWDIEELVSLGKKLKACPYYTARELIQ
  DADIIFCPYNYLLDAQIRESMDLNLKEQVVILDEAHNIEDCARESASYSVTEVQLRFARD
  ELDSMVNNNIRKKDHEPLRAVCCSLINWLEANAEYLVERDYESACKIWSGNEMLLTLHKM
  GITTATFPILQGHFSAVLQKEEKISPIYGKEEAREVPVISASTQIMLKGLFMVLDYLFRQ
  NSRFADDYKIAIQQTYSWTNQIDISDKNGLLVLPKNKKRSRQKTAVHVLNFWCLNPAVAF
  SDINGKVQTIVLTSGTLSPMKSFSSELGVTFTIQLEANHIIKNSQVWVGTIGSGPKGRNL
  CATFQNTETFEFQDEVGALLLSVCQTVSQGILCFLPSYKLLEKLKERWLSTGLWHNLELV
  KTVIVEPQGGEKTNFDELLQVYYDAIKYKGEKDGALLVAVCRGKVSEGLDFSDDNARAVI
  TIGIPFPNVKDLQVELKRQYNDHHSKLRGLLPGRQWYEIQAYRALNQALGRCIRHRNDWG
  ALILVDDRFRNNPSRYISGLSKWVRQQIQHHSTFESALESLAEFSKKHQKVLNVSIKDRT
  NIQDNESTLEVTSLKYSTSPYLLEAASHLSPENFVEDEAKICVQELQCPKIITKNSPLPS
  SIISRKEKNDPVFLEEAGKAEKIVISRSTSPTFNKQTKRVSWSSFNSLGQYFTGKIPKAT
  PELGSSENSASSPPRFKTEKMESKTVLPFTDKCESSNLTVNTSFGSCPQSETIISSLKID
  ATLTRKNHSEHPLCSEEALDPDIELSLVSEEDKQSTSNRDFETEAEDESIYFTPELYDPE
  DTDEEKNDLAETDRGNRLANNSDCILAKDLFEIRTIKEVDSAREVKAEDCIDTKLNGILH
  IEESKIDDIDGNVKTTWINELELGKTHEIEIKNFKPSPSKNKGMFPGFK

• Sequence length: 1249

Pathways

KEGG:

Homologous recombination
Fanconi anemia pathway

Reactome:

HDR through Single Strand Annealing (SSA)
HDR through Homologous Recombination (HRR)
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Resolution of D-loop Structures through Holliday Junction Intermediates
Homologous DNA Pairing and Strand Exchange
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint

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
Breast and/or ovarian cancer	Pathogenic; Likely pathogenic	rs587778134, rs587781292, rs587781655, rs574552037, rs137852986, rs760551339, rs1438059784, rs2545200948, rs1064793626, rs1064794202, rs1257401983, rs2077989420	RCV001271072 RCV001798433 RCV003492592 RCV001270930 RCV003149564 RCV001270931 RCV003493309 RCV003493310 RCV001271071 RCV001271070 RCV003492076 RCV001271069	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast cancer, early-onset	Pathogenic	rs137852986, rs780020495	RCV000504276 RCV000503203	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast carcinoma	Likely pathogenic; Pathogenic	rs2145761239, rs2145410258, rs2145307439, rs1257401983	RCV001554254 RCV001615398 RCV001648485 RCV001554339	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast neoplasm	Likely pathogenic; Pathogenic	rs1257401983	RCV000504601	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast-ovarian cancer, familial, susceptibility to, 1	Likely pathogenic; Pathogenic	rs574552037, rs137852986, rs1064793887, rs1555609191	RCV002272137 RCV005246591 RCV003128245 RCV004760561	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BRIP1-associated familial cancer predisposition	Likely pathogenic; Pathogenic	rs587781321, rs368796923, rs876660613	RCV003335111 RCV003335116 RCV003335263	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BRIP1-related disorder	Pathogenic; Likely pathogenic	rs587780226, rs587780240, rs587781985, rs775537066, rs752309409, rs747604569, rs137852986, rs760551339, rs757771711, rs149364097, rs780020495	RCV003483484 RCV004529949 RCV003483500 RCV004539566 RCV004732727 RCV004539556 RCV000778127 RCV001535435 RCV004733615 RCV004528133 RCV004535588	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Carcinoma of colon	Likely pathogenic; Pathogenic	rs1057519365	RCV000416663	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carcinoma of pancreas	Pathogenic; Likely pathogenic	rs2145299550, rs760551339	RCV001391202 RCV001391201	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diffuse intrinsic pontine glioma	Likely pathogenic; Pathogenic	rs149364097	RCV000761010	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Esophageal atresia/tracheoesophageal fistula	Pathogenic	rs137852986	RCV000515368	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs2144077998, rs2144674380, rs995056553, rs876659707, rs2145767071, rs863224802, rs759080195, rs2144115743, rs2144697372, rs1057517643, rs2144701307, rs2145033356, rs2145081748, rs2077609103, rs2145094630, rs747214372, rs2145239498, rs2145243385, rs2145243883, rs2145302423, rs2077948208, rs2145335621, rs2145339188, rs2145761401, rs876660080, rs587781830, rs2145830278, rs2145864140, rs1060501757, rs2145761239, rs1296238058, rs1489355776, rs2144114210, rs1060501763, rs587780224, rs587780226, rs587780228, rs587778134, rs587780236, rs587780240, rs748274524, rs1064793887, rs770509300, rs2144380398, rs2145865744, rs2145414039, rs2144696024, rs2145830843, rs587778131, rs2145303552, rs587778138, rs587778139, rs2145334576, rs2145863122, rs2145030551, rs199643061, rs2145828926, rs2145300052, rs587780833, rs2145027657, rs2145239459, rs1603328406, rs758128094, rs2145850255, rs2145763904, rs2144678308, rs2078745026, rs2145309797, rs2145029870, rs2144701568, rs2145031089, rs2144090014, rs2145135618, rs2144090521, rs2145825816, rs2144384449, rs2145307730, rs1603362622, rs2145091141, rs2145334953, rs2145241576, rs2078973424, rs2144092520, rs2145028011, rs2145095898, rs2144381014, rs2145849937, rs2145826463, rs2144113535, rs2145826750, rs370175724, rs2144187480, rs2144112699, rs2145032405, rs587781292, rs587781321, rs2145135739, rs587781416, rs769583916, rs2144091036, rs587781655, rs368796923, rs2077852092, rs587781786, rs2144113001, rs587781985, rs2144091008, rs587782047, rs587782065, rs574552037, rs587782410, rs587782514, rs587782539, rs587782574, rs587782726, rs2145242325, rs2144384208, rs2545139564, rs2544570367, rs2544556594, rs2545420396, rs2145827552, rs2545480564, rs2145337853, rs1603361558, rs730881649, rs730881647, rs730881635, rs730881633, rs2145863423, rs2545199655, rs2545137417, rs2545472874, rs2145092515, rs2145245242, rs2544604612, rs2145074473, rs2145030202, rs2144381202, rs1567737536, rs2544572786, rs2144677625, rs786202927, rs786203451, rs786203384, rs775537066, rs786201808, rs786202610, rs752309409, rs786201733, rs747604569, rs786203429, rs786203521, rs786203890, rs763009188, rs2144111205, rs2475008191, rs2145828435, rs2544827171, rs2144185746, rs876659321, rs786204250, rs2545420135, rs748962730, rs1409603424, rs2545105477, rs137852986, rs1436085018, rs2145852357, rs1567866856, rs2545407253, rs2544698078, rs2545106040, rs753664225, rs2544996842, rs2144090799, rs1555617829, rs1603276837, rs2145095957, rs2544835915, rs2544560161, rs2145343116, rs2545156145, rs1412610651, rs2545407876, rs2144700629, rs2144187284, rs587780875, rs775171520, rs863224525, rs2545031289, rs2145825942, rs2061359296, rs2545459291, rs2544561714, rs2545151832, rs2545200773, rs2545106633, rs2544574598, rs2545135357, rs1567755539, rs2544573042, rs2545405505, rs864622611, rs864622236, rs864622166, rs864622277, rs1057519365, rs869312763, rs753023295, rs876660203, rs876659533, rs876658256, rs775735278, rs876659490, rs779466229, rs876660769, rs876660937, rs876660613, rs752411477, rs2544996237, rs2544996726, rs2545199810, rs2545108710, rs2470194710, rs760551339, rs786203898, rs878855145, rs878855143, rs878855140, rs878855134, rs878855159, rs2544835648, rs2545480384, rs2545199633, rs2544836162, rs761653387, rs2077034033, rs2544696416, rs2545055357, rs2545052192, rs2544837161, rs2545028503, rs757771711, rs2545054545, rs2545027670, rs2545140257, rs2545018399, rs1555573356, rs2545418887, rs2545471956, rs2545472337, rs2545418573, rs2545030237, rs2544996423, rs1555607230, rs2545196394, rs2545107177, rs2077034919, rs2545198049, rs2509126902, rs2145081656, rs2544837899, rs2544837995, rs1438975574, rs2544698040, rs2545420447, rs2545405264, rs2145849372, rs1392582030, rs2545193475, rs2144674833, rs1603340353, rs2545054512, rs2544825619, rs2544997208, rs2078111971, rs1064794095, rs2545029519, rs2544826042, rs2545471798, rs2078746295, rs1060501780, rs2545195353, rs1555590388, rs2545194135, rs2545195502, rs2544696439, rs2545406515, rs2145743494, rs2544999240, rs1567876917, rs1555603638, rs2545406872, rs2545194914, rs2545052244, rs1555609254, rs2545471112, rs2545052746, rs2545479728, rs2544697127, rs2545480859, rs2545480492, rs2545195273, rs756707967, rs2545458587, rs2545021116, rs2545473484, rs2545418342, rs2545199010, rs2545150760, rs2545027623, rs2545155962, rs2545153764, rs2545151988, rs2545406592, rs2544826303, rs2545030097, rs2545017859, rs2545460283, rs2545151603, rs2545135451, rs2545472660, rs2545106217, rs2545019279, rs2544826413, rs2545031648, rs2545196150, rs2544837915, rs2544834748, rs2545140310, rs2545196585, rs2545156541, rs2545420289, rs2545473339, rs2144694677, rs2145076139, rs2545421165, rs1555615763, rs2077671871, rs2545137476, rs182028200, rs2545419645, rs2545052436, rs2545105490, rs2144680456, rs2145134667, rs2545017339, rs2078778379, rs1219435870, rs1060501767, rs1555573342, rs2545136260, rs748211848, rs2545055440, rs2544696743, rs1603328913, rs1443511163, rs2545027187, rs2545480911, rs2145238905, rs2545150996, rs2545030997, rs2545052480, rs2545471484, rs1603334464, rs2545136612, rs2545200948, rs2544838229, rs2544559393, rs2061323811, rs2544574443, rs1368457771, rs761015335, rs2145761347, rs2544572293, rs2545153722, rs2145142389, rs2145079010, rs2545407375, rs2544561743, rs2544573186, rs2144677021, rs2544559904, rs2545199408, rs2544559621, rs2145761225, rs2545418630, rs2145339536, rs2544570534, rs2145242241, rs2544557750, rs2544561847, rs2544561004, rs2544837337, rs2545419752, rs876658270, rs2545139110, rs2544837771, rs2545135432, rs2545459007, rs2545201350, rs2544605175, rs2545021377, rs2545026298, rs2145245448, rs2544557300, rs2544557355, rs1555607768, rs2545154252, rs2545053753, rs2545473289, rs2544996152, rs2545054659, rs1057517648, rs1057520058, rs149364097, rs1295703239, rs1060501739, rs1555618716, rs752780954, rs1060501772, rs1060501779, rs1060501778, rs1060501740, rs1555618396, rs1064795352, rs1064793626, rs1064793812, rs1064795413, rs1064795649, rs1064794890, rs1064794202, rs1257401983, rs780020495, rs1555580769, rs1555591365, rs760782298, rs1555580957, rs1555616143, rs1555609191, rs1555618374, rs754929230, rs1555616150, rs1555574796, rs1555590521, rs1555601064, rs1555602638, rs1555573386, rs1555609121, rs1555574788, rs1555609162, rs1555590286, rs1555601094, rs786202760, rs1555617834, rs1555603622, rs1555605902, rs1555607022, rs1555607070, rs575595017, rs1555607749, rs1555591308, rs1555601204, rs1555609402, rs1555616206, rs761639530, rs140233356, rs768736851, rs1555618727, rs763818712, rs1028347439, rs1400202829, rs1555607628, rs1555607759, rs1555618738, rs1555591361, rs1555601203, rs1555618375, rs1555573497, rs1310861578, rs1555602127, rs1555609116, rs762701532, rs1555573327, rs1555574803, rs1483527885, rs1555617925, rs373104267, rs1555572698, rs1339743866, rs1555616176, rs1555591385, rs1555603635, rs1555605955, rs1555607792, rs1555618709, rs1060501766, rs1567781169, rs749762964, rs1567831477, rs1567813223, rs1567878148, rs1567731917, rs1567781543, rs1567812616, rs1567816997, rs1304655615, rs1060501765, rs1567868477, rs1567831649, rs1567874485, rs1567838246, rs1567878234, rs1567781516, rs777217004, rs1567756032, rs1437158047, rs1567809140, rs1603328466, rs1292988272, rs1603276728, rs1603277005, rs1603328780, rs1603336895, rs1603336897, rs1603336980, rs1603342339, rs587783377, rs1603343235, rs1603361570, rs1603361577, rs1603367753, rs1603368490, rs786202941, rs766516963, rs1603280621, rs775755739, rs1603293306, rs1603280507, rs1356014648, rs1603334758, rs1603340281, rs1603342258, rs1603342313, rs1603346857, rs45459799, rs1603346983, rs1603347042, rs1603347058, rs1603362580, rs1603362725, rs1603366250, rs1603366351, rs1603367647, rs1603367649, rs1603367673, rs1603368431, rs1603293314, rs1603337052, rs2061477722, rs2061478781, rs2061855838, rs2077537050, rs2077537479, rs2077609777, rs1603334619, rs2077611091, rs2077667669, rs2077853451, rs2077951770, rs1555609257, rs2078117088, rs2078971612, rs2078112057, rs2061326585, rs2061854079, rs2077609211, rs2077993152, rs2077945546, rs2061353270, rs1567732136, rs2077947183, rs2077949826, rs2078112240, rs2061358219, rs2077610620, rs2077985927, rs2077991700, rs2078949879, rs2061856480, rs2077029293, rs2061309076, rs2077030288, rs769081927, rs2078951497, rs2078779429, rs2077594062, rs2077534283, rs2078781062, rs2078107930	RCV001379350 RCV001378381 RCV001376837 RCV001377433 RCV001378052 RCV002290705 RCV001389883 RCV001380879 RCV001382460 RCV001386561 RCV001388724 RCV001389909 RCV001387460 RCV001386910 RCV001381718 RCV001380100 RCV001388851 RCV001390521 RCV001390663 RCV001380491 RCV001382730 RCV001390435 RCV001389690 RCV001387125 RCV001387871 RCV001387221 RCV001381413 RCV001381321 RCV003771637 RCV003474007 RCV001868799 RCV001775202 RCV003336431 RCV003336432 RCV000560652 RCV000699261 RCV000473135 RCV000469530 RCV000636094 RCV000205157 RCV002024150 RCV002028035 RCV002014985 RCV001881478 RCV001905843 RCV001960630 RCV001888718 RCV001889420 RCV003335106 RCV001921000 RCV003335107 RCV001854601 RCV001933132 RCV002014296 RCV001931157 RCV001949273 RCV001888397 RCV001891098 RCV000123363 RCV001908683 RCV001919701 RCV001874686 RCV001943800 RCV002035239 RCV002035264 RCV001993249 RCV001974267 RCV001999955 RCV003336473 RCV001906117 RCV002035497 RCV002011270 RCV001933506 RCV001979556 RCV002012730 RCV001986837 RCV001994846 RCV002002487 RCV001941606 RCV001906362 RCV001913181 RCV001936526 RCV001951174 RCV002016714 RCV001932809 RCV001946621 RCV002033098 RCV001883278 RCV001972820 RCV001889999 RCV001956069 RCV001949362 RCV002026194 RCV001959201 RCV001963247 RCV001975254 RCV001958735 RCV001910036 RCV003315866 RCV000228701 RCV002047648 RCV000636112 RCV001983409 RCV002021724 RCV001876511 RCV000472419 RCV000701846 RCV001959254 RCV000699984 RCV001916357 RCV000556616 RCV002027110 RCV000558720 RCV000536840 RCV000205848 RCV000468535 RCV003462019 RCV000763016 RCV003315916 RCV000551045 RCV003094197 RCV003336512 RCV002289354 RCV003774995 RCV003097887 RCV003336545 RCV003336527 RCV003336529 RCV003336553 RCV003336547 RCV004572323 RCV000167986 RCV000231997 RCV001390434 RCV000636104 RCV003336555 RCV003475363 RCV003098386 RCV003336567 RCV003336585 RCV003336717 RCV003336700 RCV003336739 RCV003336720 RCV003475376 RCV003101824 RCV003775302 RCV003102123 RCV003336734 RCV001850330 RCV003335166 RCV000203877 RCV000205261 RCV003335156 RCV000168341 RCV000206065 RCV003765019 RCV000198978 RCV003335165 RCV000473245 RCV003335172 RCV000197800 RCV003336746 RCV003336744 RCV003336755 RCV005869843 RCV003336758 RCV003336760 RCV000168450 RCV003050490 RCV003112389 RCV003117214 RCV002569765 RCV002592967 RCV000205436 RCV002610005 RCV002791583 RCV002820501 RCV002812031 RCV002842295 RCV002834832 RCV002851589 RCV002857021 RCV002866558 RCV002876952 RCV002852365 RCV002876142 RCV002881225 RCV002876754 RCV002866925 RCV002899153 RCV002903845 RCV002872779 RCV002947425 RCV002994665 RCV000195948 RCV000198848 RCV000200575 RCV002995544 RCV003022840 RCV003029703 RCV003017414 RCV003017704 RCV003057925 RCV003043345 RCV003049313 RCV003049543 RCV003040213 RCV003033251 RCV003043987 RCV003040563 RCV000204583 RCV000204964 RCV000205570 RCV000203783 RCV000636137 RCV000796090 RCV001047429 RCV000555856 RCV001041952 RCV001066364 RCV000544085 RCV001857773 RCV001201525 RCV000706262 RCV000804472 RCV000695130 RCV000463637 RCV000696347 RCV001853547 RCV003140309 RCV003140323 RCV003140396 RCV003336822 RCV003778903 RCV000232131 RCV000229009 RCV000229169 RCV000232507 RCV000232677 RCV000234635 RCV000232385 RCV003228695 RCV003234847 RCV003314545 RCV003315483 RCV003317005 RCV003325256 RCV003326217 RCV005227994 RCV003336856 RCV003336860 RCV003336887 RCV003336894 RCV003336905 RCV003336910 RCV003336913 RCV003336920 RCV003336922 RCV003336923 RCV003336940 RCV003336959 RCV003336967 RCV003336968 RCV003336979 RCV003336980 RCV003336982 RCV003336997 RCV003337007 RCV003337012 RCV003337018 RCV003337039 RCV003337044 RCV003337053 RCV003337054 RCV003337065 RCV003337069 RCV003337079 RCV003337080 RCV003337083 RCV003337086 RCV003337087 RCV003337092 RCV003337099 RCV003337104 RCV003337107 RCV003337108 RCV003337119 RCV003337121 RCV003337123 RCV003337128 RCV003337133 RCV003337142 RCV003337152 RCV003337153 RCV003337173 RCV003337174 RCV003337185 RCV003337190 RCV003337192 RCV003337202 RCV003334479 RCV003334482 RCV003334486 RCV003334490 RCV003334502 RCV003334515 RCV003334519 RCV003334522 RCV003334524 RCV003334526 RCV003334528 RCV003334533 RCV003334537 RCV003334540 RCV003334542 RCV003334544 RCV003334547 RCV003334555 RCV003334561 RCV003334569 RCV003334575 RCV003334579 RCV003334582 RCV003334584 RCV003334591 RCV003334597 RCV003334606 RCV003334607 RCV003334609 RCV003334610 RCV003334617 RCV003334638 RCV003334640 RCV003334641 RCV003334646 RCV003334648 RCV003334656 RCV003334664 RCV003334668 RCV003334669 RCV003334671 RCV003334672 RCV003334677 RCV003334679 RCV003334680 RCV003334688 RCV003334691 RCV003334693 RCV003334696 RCV003334741 RCV003334772 RCV003334948 RCV003335605 RCV003335611 RCV003335612 RCV003335631 RCV003335634 RCV003335643 RCV003335645 RCV003335659 RCV003335662 RCV003335663 RCV003335665 RCV003335667 RCV003335681 RCV003335688 RCV003335692 RCV003335703 RCV003335705 RCV003335708 RCV003335718 RCV003335725 RCV003335737 RCV003335759 RCV003335761 RCV003335769 RCV003335774 RCV003335779 RCV003335781 RCV003778153 RCV003460282 RCV003460286 RCV003460293 RCV003474442 RCV003474450 RCV003450599 RCV003454362 RCV003779269 RCV003779350 RCV003785608 RCV003784649 RCV003782994 RCV003782596 RCV003790472 RCV003794202 RCV003806367 RCV003791178 RCV003791462 RCV003800121 RCV003805449 RCV003803683 RCV003804157 RCV003798569 RCV003802805 RCV003805333 RCV003803363 RCV003800815 RCV003801073 RCV003801144 RCV003795091 RCV003800496 RCV003807024 RCV003804574 RCV003802433 RCV003813703 RCV003809582 RCV003815256 RCV003812333 RCV003812565 RCV003804991 RCV003802562 RCV003805087 RCV003805100 RCV003805171 RCV003812279 RCV003810190 RCV003810370 RCV005216140 RCV003994780 RCV004439995 RCV004442473 RCV004442602 RCV004566456 RCV004575464 RCV004589220 RCV000636132 RCV000990042 RCV001390984 RCV003335323 RCV000466014 RCV000465431 RCV000473198 RCV000468302 RCV000467954 RCV000469617 RCV000461704 RCV000463454 RCV000475128 RCV000460420 RCV000457888 RCV000464669 RCV000460534 RCV000694142 RCV003335366 RCV000793928 RCV001215660 RCV003335351 RCV003335367 RCV003335369 RCV000804981 RCV001066099 RCV000694900 RCV000804787 RCV000538973 RCV000534157 RCV000537071 RCV000546192 RCV000527183 RCV000553186 RCV000533378 RCV000529304 RCV000549682 RCV000557392 RCV000545986 RCV005620977 RCV003335518 RCV001865708 RCV001858087 RCV000780062 RCV001383629 RCV001005049 RCV001205607 RCV000805607 RCV001865709 RCV003335484 RCV000690470 RCV003335496 RCV001858090 RCV002528120 RCV000694857 RCV000636084 RCV003767220 RCV000636179 RCV000815867 RCV003335495 RCV001289543 RCV000792478 RCV003335509 RCV001853824 RCV001853825 RCV001063357 RCV003316749 RCV001038619 RCV001234227 RCV003336070 RCV000636063 RCV005223012 RCV003767301 RCV003336071 RCV005223011 RCV003336069 RCV000636183 RCV000636124 RCV000636182 RCV000636154 RCV000636139 RCV000636081 RCV000636071 RCV000636075 RCV000636138 RCV000636164 RCV000636155 RCV000636074 RCV000636150 RCV000636080 RCV000656708 RCV000703182 RCV003767890 RCV003316789 RCV003316786 RCV003316792 RCV003316784 RCV001390437 RCV000689517 RCV000700250 RCV000702705 RCV000690293 RCV000696107 RCV003336153 RCV000696136 RCV000705615 RCV000692158 RCV000685488 RCV000695002 RCV000690639 RCV000688451 RCV000695687 RCV000684898 RCV000699626 RCV003336159 RCV000990007 RCV000990024 RCV000990045 RCV001377589 RCV000819597 RCV004027296 RCV003336175 RCV000815797 RCV001856067 RCV002536649 RCV000781183 RCV001856183 RCV000780048 RCV000813742 RCV000808883 RCV000807659 RCV000792944 RCV000816751 RCV000811244 RCV000808670 RCV000822648 RCV000796155 RCV000821577 RCV000802368 RCV000802169 RCV000793829 RCV000808984 RCV000821425 RCV000795180 RCV000816078 RCV000795616 RCV000796323 RCV000811822 RCV000811269 RCV003336243 RCV001873241 RCV003336235 RCV001860679 RCV001390858 RCV005225201 RCV001052702 RCV001210339 RCV001381445 RCV001193527 RCV003336264 RCV001067881 RCV005213442 RCV003769510 RCV003336245 RCV001380153 RCV003336239 RCV001390436 RCV003336267 RCV003336248 RCV001860803 RCV002551764 RCV001228430 RCV003336232 RCV005225208 RCV003336261 RCV001040843 RCV001061398 RCV001040141 RCV001036157 RCV001052115 RCV001037147 RCV001045191 RCV001067520 RCV001053297 RCV001054190 RCV001055494 RCV001044683 RCV001039518 RCV001036465 RCV001066581 RCV001067981 RCV001061987 RCV001043236 RCV002558716 RCV004792758 RCV003336312 RCV003336315 RCV003336313 RCV003336323 RCV001875795 RCV001863070 RCV001221150 RCV001214990 RCV001222884 RCV001224066 RCV001216804 RCV003336331 RCV001208549 RCV001214025 RCV001205614 RCV001204419 RCV001205350 RCV001215864 RCV001224744 RCV001228531 RCV001232702 RCV001234612 RCV001233850 RCV001239721 RCV001244017 RCV001225514 RCV001253166 RCV001253394 RCV003336360	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial ovarian cancer	Pathogenic; Likely pathogenic	rs587780226, rs587780228, rs2144696024, rs587781655, rs730881647, rs730881633, rs752309409, rs786202125, rs753664225, rs2545407876, rs775171520, rs863224525, rs753023295, rs752411477, rs760551339, rs878855134, rs149364097, rs1555591361, rs1310861578, rs1437158047, rs2078112057	RCV001787088 RCV005359108 RCV005361793 RCV005600715 RCV005365050 RCV005600753 RCV005359503 RCV001354834 RCV005601956 RCV004786761 RCV005600807 RCV005600806 RCV005361360 RCV005361294 RCV004786627 RCV005600870 RCV005600622 RCV005357744 RCV005601060 RCV005601678 RCV005359891	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi anemia	Pathogenic; Likely pathogenic	rs137852986, rs2144680456	RCV000312325 RCV004018178	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi anemia complementation group D2	Pathogenic	rs780020495	RCV005055362	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi anemia complementation group J	Likely pathogenic; Pathogenic	rs2144077998, rs2144674380, rs995056553, rs876659707, rs2145767071, rs863224802, rs759080195, rs2144115743, rs2144697372, rs1057517643, rs2144701307, rs2145033356, rs2145081748, rs2077609103, rs2145094630, rs747214372, rs2145239498, rs2145243385, rs2145243883, rs2145302423, rs2077948208, rs2145335621, rs2145339188, rs2145761401, rs876660080, rs587781830, rs2145830278, rs2145864140, rs1060501757, rs2145761239, rs1296238058, rs2144114210, rs1060501763, rs587780224, rs587780226, rs587780228, rs587778134, rs587780236, rs587780240, rs748274524, rs1064793887, rs770509300, rs2144380398, rs2145865744, rs2145414039, rs2144696024, rs2145830843, rs2145303552, rs587778138, rs587778139, rs2145334576, rs2145863122, rs2145030551, rs199643061, rs2145828926, rs2145300052, rs587780833, rs2145027657, rs2145239459, rs1603328406, rs758128094, rs2145850255, rs2145763904, rs2144678308, rs2078745026, rs2145309797, rs2145029870, rs2144701568, rs2145031089, rs2144090014, rs2145135618, rs2144090521, rs2145825816, rs2144384449, rs2145307730, rs1489355776, rs1603362622, rs2145091141, rs2145334953, rs2145241576, rs2078973424, rs2144092520, rs2145028011, rs2145095898, rs2144381014, rs2145849937, rs2145826463, rs2144113535, rs2145826750, rs370175724, rs2144187480, rs2144112699, rs2145032405, rs587781292, rs587781321, rs2145135739, rs587781416, rs769583916, rs2144091036, rs587781655, rs368796923, rs2077852092, rs587781786, rs2144113001, rs587781985, rs2144091008, rs587782047, rs587782065, rs574552037, rs587782410, rs587782539, rs587782574, rs587782726, rs2145242325, rs2144384208, rs2545139564, rs2544570367, rs2544556594, rs2544695974, rs730881649, rs730881647, rs730881635, rs730881633, rs2145863423, rs2545199655, rs2545472874, rs2145092515, rs2145074473, rs2144381202, rs1567737536, rs2544572786, rs786202927, rs786203384, rs775537066, rs786202610, rs752309409, rs786201733, rs747604569, rs786203521, rs763009188, rs2144111205, rs876659321, rs2544559021, rs786204250, rs2545420135, rs587778131, rs748962730, rs1409603424, rs2545105477, rs137852986, rs1436085018, rs2145852357, rs1567866856, rs2545407253, rs2544698078, rs2545106040, rs753664225, rs2544996842, rs2144090799, rs1555617829, rs1603276837, rs2145095957, rs2544835915, rs2544560161, rs2145343116, rs2545156145, rs1412610651, rs2545407876, rs2144700629, rs2144187284, rs587780875, rs775171520, rs863224525, rs2545031289, rs2145825942, rs2061359296, rs2545459291, rs2544561714, rs2545151832, rs2545200773, rs2545106633, rs2544574598, rs2545135357, rs1567755539, rs2544573042, rs2545405505, rs864622611, rs864622236, rs864622166, rs864622277, rs1057519365, rs869312763, rs753023295, rs876660203, rs876659533, rs876658256, rs775735278, rs876659490, rs779466229, rs876660769, rs876660937, rs876660613, rs752411477, rs2544996726, rs2545108710, rs2470194710, rs760551339, rs786203898, rs878855145, rs878855143, rs878855140, rs878855134, rs878855159, rs761653387, rs2545055357, rs1555573356, rs2545196394, rs2544698040, rs2545480492, rs2545135451, rs2545019279, rs2545055440, rs2544696743, rs1603328913, rs1443511163, rs2545480911, rs2145238905, rs2545200948, rs2544838229, rs2544559393, rs2061323811, rs2544574443, rs1368457771, rs761015335, rs2145761347, rs2544572293, rs2545153722, rs2545052746, rs2145142389, rs2145079010, rs2545407375, rs2544561743, rs2544573186, rs2144677021, rs2544559904, rs2545199408, rs2544559621, rs2145761225, rs2545418630, rs2145339536, rs2544570534, rs2145242241, rs2544557750, rs2544561847, rs2544561004, rs2544837337, rs2545419752, rs876658270, rs2545139110, rs2544837771, rs2545135432, rs2545459007, rs2545201350, rs2544605175, rs2545021377, rs2545026298, rs2145245448, rs2544557300, rs1057517648, rs1057520058, rs149364097, rs1295703239, rs1060501739, rs1555618716, rs752780954, rs1060501772, rs1060501779, rs1060501778, rs1060501740, rs1555618396, rs786203451, rs1064795352, rs1064793626, rs1064793812, rs1064795649, rs1064794890, rs1064794202, rs1257401983, rs780020495, rs1555580769, rs1555591365, rs760782298, rs1555580957, rs1555609254, rs1555616143, rs1555609191, rs1555618374, rs754929230, rs1555616150, rs1555601064, rs1555602638, rs1555603638, rs1555573386, rs1555609121, rs1555574788, rs1555609162, rs1555590286, rs786202760, rs1555617834, rs1555603622, rs1555605902, rs1555607022, rs1555607070, rs575595017, rs1555607749, rs1555591308, rs1555601204, rs1555609402, rs761639530, rs140233356, rs768736851, rs1555618727, rs763818712, rs1028347439, rs1555607628, rs1555607759, rs1555618738, rs1555591361, rs1555601203, rs1555573497, rs1310861578, rs1555602127, rs1555609116, rs762701532, rs1555573327, rs1555574803, rs1483527885, rs1555617925, rs373104267, rs1555572698, rs1339743866, rs1555616176, rs1555591385, rs1555615763, rs1555590388, rs1555603635, rs1555605955, rs1555607792, rs1555618709, rs1060501766, rs1567781169, rs749762964, rs1567831477, rs1567813223, rs1567878148, rs1567731917, rs1567781543, rs1567812616, rs1567816997, rs1304655615, rs1060501765, rs1567868477, rs1567831649, rs1567874485, rs1567878234, rs1567781516, rs777217004, rs1567756032, rs1437158047, rs1567809140, rs1292988272, rs1603276728, rs1603277005, rs1603328780, rs1603336895, rs1603336897, rs1603336980, rs1603342339, rs587783377, rs1603343235, rs1603361570, rs1603361577, rs1603367753, rs1603368490, rs786202941, rs766516963, rs1603280621, rs1219435870, rs775755739, rs1603293306, rs1356014648, rs1603340281, rs1603342258, rs1603342313, rs1603346857, rs45459799, rs1603346983, rs1603347058, rs1603362580, rs1603362725, rs1603366250, rs1603367647, rs1603367649, rs1603367673, rs1603293314, rs1603337052, rs2061477722, rs2061478781, rs2061855838, rs2077537050, rs2077537479, rs2077609777, rs1603334619, rs2077611091, rs2077667669, rs2077853451, rs2077951770, rs1555609257, rs2078117088, rs2078971612, rs1438975574, rs2078112057, rs2077609211, rs2077945546, rs2061353270, rs2078111971, rs1567732136, rs2077947183, rs2077949826, rs2078112240, rs1603368431, rs2061358219, rs2077610620, rs2077985927, rs2077991700, rs2078949879, rs2061856480, rs2077029293, rs2061309076, rs2077030288, rs769081927, rs2078951497, rs2078779429, rs2077594062	RCV001379350 RCV001378381 RCV001376837 RCV001377433 RCV001378052 RCV001389332 RCV001389883 RCV001380879 RCV001382460 RCV001386561 RCV001388724 RCV001389909 RCV001387460 RCV001386910 RCV001381718 RCV001380100 RCV001388851 RCV001390521 RCV001390663 RCV001380491 RCV001382730 RCV001390435 RCV001389690 RCV001387125 RCV001387871 RCV001387221 RCV001381413 RCV001381321 RCV003771637 RCV002568350 RCV001868799 RCV001780687 RCV001784051 RCV000560652 RCV000699261 RCV000473135 RCV000469530 RCV000636094 RCV000205157 RCV002024150 RCV002028035 RCV002014985 RCV001881478 RCV001905843 RCV001960630 RCV001888718 RCV001889420 RCV001921000 RCV001854600 RCV001854601 RCV001933132 RCV002014296 RCV001931157 RCV001949273 RCV001888397 RCV001891098 RCV000123363 RCV001908683 RCV001919701 RCV001874686 RCV001943800 RCV002035239 RCV002035264 RCV001993249 RCV001974267 RCV001999955 RCV002037778 RCV001906117 RCV002035497 RCV002011270 RCV001933506 RCV001979556 RCV002012730 RCV001986837 RCV001994846 RCV002002487 RCV001941606 RCV001906362 RCV001913181 RCV001936526 RCV001951174 RCV002016714 RCV001932809 RCV001946621 RCV002033098 RCV001883278 RCV001972820 RCV001889999 RCV001956069 RCV001949362 RCV002026194 RCV001959201 RCV001963247 RCV001975254 RCV001958735 RCV001910036 RCV005430181 RCV000228701 RCV002047648 RCV000636112 RCV001983409 RCV002021724 RCV001876511 RCV000472419 RCV000701846 RCV001959254 RCV000699984 RCV001916357 RCV000556616 RCV002027110 RCV000558720 RCV000536840 RCV000205848 RCV000410978 RCV000763016 RCV000703456 RCV001384433 RCV003094197 RCV003774762 RCV003097779 RCV003774995 RCV003097887 RCV005433198 RCV000167986 RCV000231997 RCV001390434 RCV000636104 RCV003774168 RCV003098386 RCV003774237 RCV005227735 RCV005215900 RCV003101824 RCV003775302 RCV003102123 RCV001850330 RCV000203877 RCV000205261 RCV000168341 RCV000206065 RCV003765019 RCV000198978 RCV000473245 RCV000410961 RCV003102216 RCV005227780 RCV002470137 RCV001382996 RCV003050490 RCV003112389 RCV003140250 RCV002569765 RCV002592967 RCV000005004 RCV002610005 RCV002791583 RCV002820501 RCV002812031 RCV002842295 RCV002834832 RCV002851589 RCV002857021 RCV002866558 RCV002876952 RCV002852365 RCV002876142 RCV002881225 RCV002876754 RCV002866925 RCV002899153 RCV002903845 RCV002872779 RCV002947425 RCV002994665 RCV000195948 RCV000198848 RCV000200575 RCV002995544 RCV003022840 RCV003029703 RCV003017414 RCV003017704 RCV003057925 RCV003043345 RCV003049313 RCV003049543 RCV003040213 RCV003033251 RCV003043987 RCV003040563 RCV000204583 RCV001388770 RCV001385848 RCV000203783 RCV000636137 RCV000796090 RCV001047429 RCV000555856 RCV001041952 RCV001066364 RCV000544085 RCV001857773 RCV001201525 RCV000706262 RCV000804472 RCV000695130 RCV000463637 RCV000696347 RCV001853547 RCV003778694 RCV003139516 RCV003778903 RCV000232131 RCV000229009 RCV000229169 RCV000232507 RCV000232677 RCV000234635 RCV001381186 RCV003777291 RCV005406665 RCV005216059 RCV003777420 RCV003777421 RCV003777422 RCV005216060 RCV003777424 RCV003777425 RCV003777426 RCV005228008 RCV003777427 RCV005216061 RCV003777428 RCV003777429 RCV003778153 RCV003779269 RCV003779350 RCV003785608 RCV003784649 RCV003782994 RCV003782596 RCV003790472 RCV003794202 RCV003806367 RCV003791178 RCV003791462 RCV003800121 RCV003805449 RCV003803683 RCV003804157 RCV003798569 RCV003802805 RCV003805333 RCV003803363 RCV003800815 RCV003801073 RCV003801144 RCV003795091 RCV003800496 RCV003807024 RCV003804574 RCV003802433 RCV003813703 RCV003809582 RCV003815256 RCV003812333 RCV003812565 RCV003804991 RCV003802562 RCV003805087 RCV003805100 RCV003805171 RCV003812279 RCV003810190 RCV003810370 RCV005216140 RCV000411722 RCV000412391 RCV001390984 RCV000023492 RCV000465431 RCV000473198 RCV000468302 RCV000467954 RCV000469617 RCV001388237 RCV000463454 RCV000475128 RCV000460420 RCV000457888 RCV000464669 RCV000460534 RCV000694142 RCV005222962 RCV000793928 RCV001215660 RCV002526540 RCV003766703 RCV000804981 RCV001066099 RCV000694900 RCV000804787 RCV001389637 RCV000534157 RCV000537071 RCV000546192 RCV000527183 RCV000553186 RCV000533378 RCV000529304 RCV000549682 RCV000557392 RCV001390592 RCV001865708 RCV001858087 RCV001867860 RCV001383629 RCV003767098 RCV001205607 RCV000805607 RCV001865709 RCV000690470 RCV001858090 RCV002528120 RCV000694857 RCV000636084 RCV003767220 RCV000636179 RCV000815867 RCV001783070 RCV001858150 RCV000792478 RCV001853824 RCV001853825 RCV001063357 RCV005430369 RCV001038619 RCV001234227 RCV000636063 RCV005223012 RCV003767301 RCV003767302 RCV005223011 RCV000636183 RCV000636124 RCV000636182 RCV000636154 RCV000636139 RCV000636081 RCV000636071 RCV000636075 RCV000636138 RCV000636164 RCV000636155 RCV000636074 RCV000636150 RCV000636080 RCV001050813 RCV000703182 RCV003767890 RCV005430380 RCV005430378 RCV005430381 RCV001385761 RCV001390437 RCV000689517 RCV000700250 RCV000702705 RCV000690293 RCV000696107 RCV000701553 RCV000696136 RCV000705615 RCV000692158 RCV000685488 RCV000695002 RCV000690639 RCV000688451 RCV000695687 RCV000684898 RCV000699626 RCV003768092 RCV001377589 RCV000819597 RCV005225134 RCV001869076 RCV000815797 RCV001856067 RCV002536649 RCV001856183 RCV002536861 RCV000813742 RCV000808883 RCV000807659 RCV000792944 RCV000816751 RCV000811244 RCV000808670 RCV000822648 RCV000796155 RCV000821577 RCV000802368 RCV000802169 RCV000793829 RCV000808984 RCV000821425 RCV000795180 RCV000816078 RCV000795616 RCV000796323 RCV000811822 RCV000811269 RCV001873241 RCV001860679 RCV001390858 RCV005225201 RCV001052702 RCV001210339 RCV001381445 RCV003769603 RCV001067881 RCV005213442 RCV003769510 RCV001380153 RCV003769458 RCV001390436 RCV003989624 RCV001860803 RCV002551764 RCV001228430 RCV001235018 RCV005225208 RCV002497344 RCV001040843 RCV001061398 RCV001040141 RCV001036157 RCV001052115 RCV001037147 RCV001045191 RCV001067520 RCV001053297 RCV001054190 RCV001055494 RCV001044683 RCV001039518 RCV001036465 RCV001066581 RCV001067981 RCV001061987 RCV001043236 RCV001255879 RCV001875917 RCV001875795 RCV001863070 RCV001194716 RCV001221150 RCV001214990 RCV001222884 RCV001224066 RCV001216804 RCV001204427 RCV001208549 RCV001214025 RCV001205614 RCV001204419 RCV001205350 RCV001215864 RCV001224744 RCV001228531 RCV001232702 RCV001234612 RCV001233850 RCV001239721 RCV001244017 RCV001225514	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric cancer	Pathogenic; Likely pathogenic	rs587780226, rs730881633, rs786203451, rs747604569, rs1555601002, rs2544553468, rs2061354035, rs2545460919, rs2544827171, rs2544558013, rs2144185746, rs2545138210, rs2545458344, rs876659321, rs864622277, rs137852986, rs1555574803, rs1555591308, rs1603328466, rs45459799, rs2061353736, rs2077606796, rs752411477, rs2077991700	RCV003162547 RCV003162675 RCV003162712 RCV003162707 RCV003164588 RCV003164631 RCV003164632 RCV003164633 RCV003164645 RCV003164693 RCV003164694 RCV003164695 RCV003164696 RCV003164705 RCV003164706 RCV003162209 RCV003162845 RCV003166043 RCV003166071 RCV003160184 RCV003163491 RCV003163492 RCV003163490 RCV003163558	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary breast ovarian cancer syndrome	Likely pathogenic; Pathogenic	rs587780224, rs587780226, rs2144187480, rs587781292, rs587781321, rs574552037, rs587782410, rs2144384208, rs730881649, rs730881633, rs775537066, rs786202610, rs752309409, rs747604569, rs786203521, rs876660203, rs775171520, rs2544826303, rs2545480911, rs149364097, rs1257401983, rs876660125, rs754929230, rs786202760, rs575595017, rs1555607749, rs1292988272, rs1603346983, rs1603346587	RCV003993807 RCV005359106 RCV005361875 RCV005055595 RCV000589135 RCV005359265 RCV000588116 RCV004017912 RCV000587824 RCV001030543 RCV001174684 RCV001192943 RCV002225482 RCV000588178 RCV000587107 RCV004765524 RCV000586228 RCV004017984 RCV004017985 RCV002271374 RCV004586741 RCV000494920 RCV005056141 RCV001526941 RCV000588194 RCV001280634 RCV000780064 RCV002236282 RCV001030544	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2144674380, rs863224802, rs2144697372, rs1057517643, rs747214372, rs2077948208, rs2145339188, rs2145830278, rs2144080858, rs2144093507, rs2145761239, rs587780224, rs587780226, rs587780228, rs587778134, rs587780236, rs587780240, rs748274524, rs1064793887, rs2145414039, rs587778131, rs587778138, rs2145828926, rs587780833, rs1603328406, rs758128094, rs2144678308, rs2078745026, rs2145309797, rs2145825816, rs2145091141, rs2078973424, rs2145095898, rs2145849937, rs2145826750, rs1060501757, rs2144112699, rs587781292, rs587781321, rs587781416, rs587781639, rs587781655, rs368796923, rs2077852092, rs587781786, rs587781974, rs587781985, rs587782047, rs587782065, rs574552037, rs587782410, rs587782514, rs587782539, rs587782574, rs587782726, rs2145242325, rs2144677021, rs2144384208, rs2145330960, rs2545420396, rs2145827552, rs2545457733, rs769583916, rs2145424078, rs2545480564, rs2145337853, rs2145306748, rs1603361558, rs730881649, rs730881647, rs730881635, rs730881633, rs2078113517, rs2545136483, rs2145863423, rs2545196328, rs2545199655, rs2545137417, rs2545480017, rs2145853178, rs2545472874, rs2545472842, rs2545134894, rs2145092515, rs2145245242, rs2145098172, rs2545152748, rs2545026298, rs2545153892, rs2145078770, rs2544827966, rs1555574796, rs2544604612, rs756511744, rs2544838613, rs1567755539, rs2145074473, rs2145030202, rs2144381202, rs2544696786, rs1567737536, rs2544572786, rs2544996008, rs1555591547, rs2144677625, rs786202927, rs786203451, rs786203384, rs775537066, rs786202415, rs786201808, rs786202610, rs752309409, rs786201733, rs747604569, rs786203429, rs786203521, rs786203890, rs2145332634, rs763009188, rs786202125, rs2144111205, rs2475008191, rs876660203, rs2145828435, rs1350433372, rs1409603424, rs137852986, rs2145852357, rs1567866856, rs1555617829, rs1603276837, rs2145343116, rs2545156145, rs2545407876, rs2144187284, rs587780875, rs775171520, rs863224525, rs864622611, rs864622236, rs864622166, rs864622277, rs1057519365, rs869312763, rs869312762, rs753023295, rs876659212, rs876659533, rs876658256, rs775735278, rs876660219, rs876659490, rs779466229, rs876660769, rs876659707, rs876660937, rs876660080, rs876660613, rs752411477, rs760551339, rs786203898, rs878855143, rs878855140, rs878855134, rs2544839892, rs2545030351, rs2545028426, rs2545154009, rs2545133690, rs2545027670, rs1555573356, rs2545472337, rs2544837995, rs1555590388, rs2545471112, rs182028200, rs1555573342, rs1443511163, rs2144701807, rs2077534379, rs2145238905, rs2545200948, rs2544557156, rs1252979934, rs2544838229, rs1368457771, rs2545472704, rs1555603622, rs2545054776, rs2545028042, rs2544825670, rs2544696268, rs2545479555, rs1057517648, rs1057520058, rs876658270, rs149364097, rs1555618716, rs752780954, rs1060501772, rs1060501778, rs1064795352, rs1064794689, rs1064793626, rs1064793812, rs1064795649, rs1064794890, rs1064794202, rs1257401983, rs780020495, rs1555591365, rs760782298, rs1555580957, rs1555616143, rs1555609191, rs1555618374, rs754929230, rs1555590521, rs1555601064, rs1555602638, rs1555603638, rs1555605866, rs1555573386, rs1555609121, rs1555574788, rs1555609162, rs1555590286, rs1555601094, rs786202760, rs1555617834, rs1555605902, rs1555607022, rs1555607070, rs1555615743, rs575595017, rs1555607749, rs1555591308, rs1555601204, rs1555609298, rs1555609402, rs1555615784, rs1555616206, rs140233356, rs768736851, rs1555618727, rs763818712, rs1028347439, rs1400202829, rs1555602154, rs1555607628, rs1555607759, rs1555609214, rs1555618738, rs1555591361, rs1555601203, rs1555618375, rs1555573497, rs1310861578, rs762701532, rs1483527885, rs1555617925, rs373104267, rs1339743866, rs1555615763, rs1555605955, rs1555607792, rs1555618709, rs1567781169, rs749762964, rs1567831477, rs1567878148, rs1567731917, rs1567812616, rs1567868477, rs1567838174, rs1567729445, rs1567781516, rs777217004, rs1567756032, rs1437158047, rs1567809140, rs1567868785, rs1292988272, rs1603328780, rs1603336895, rs587783377, rs1603343235, rs1603361570, rs1603367753, rs1603368490, rs766516963, rs1603280621, rs1603293306, rs1603280507, rs1603328667, rs1603328816, rs1356014648, rs1603334758, rs1603340281, rs1603342258, rs1603342313, rs1603343101, rs1603346857, rs45459799, rs1603346983, rs1603347042, rs1603347058, rs1603361587, rs1603361705, rs1603362580, rs1603362725, rs1603366250, rs1603366351, rs1603367647, rs1603367649, rs1603367673, rs1603368431, rs1603276502, rs1603293314, rs1603337052, rs1603346587, rs2061478781, rs2061855838, rs2077537050, rs2077609777, rs2077667669, rs1555609257, rs2078971612, rs1438975574, rs2078112057, rs2061326585, rs2061478980, rs2061854079, rs2077034404, rs2077609211, rs2077857156, rs2077993152, rs2077993866, rs1603346830, rs2078747114, rs2077945546, rs2061353270, rs1567732136, rs2077949826, rs2077610620, rs2077985927, rs2078949879, rs2077030288, rs769081927, rs2078951497, rs2077534283	RCV002447501 RCV003169951 RCV002432067 RCV002420862 RCV002395863 RCV004601486 RCV003382567 RCV002456597 RCV001525797 RCV001524778 RCV002334598 RCV000116118 RCV000210150 RCV000116123 RCV000116134 RCV000116138 RCV000116143 RCV005535258 RCV006372599 RCV004946937 RCV002399486 RCV001019178 RCV002440963 RCV000223616 RCV004040478 RCV002442868 RCV002458880 RCV004946971 RCV004044351 RCV003585185 RCV003303345 RCV004044383 RCV004603110 RCV002407187 RCV002458887 RCV004603146 RCV005782241 RCV002423020 RCV000128992 RCV000129060 RCV000129282 RCV000129762 RCV000129793 RCV000129878 RCV004044556 RCV000130041 RCV000130366 RCV000130385 RCV000130514 RCV000130549 RCV000131417 RCV000131449 RCV000131664 RCV000131744 RCV000131801 RCV000132220 RCV002257009 RCV002255807 RCV002257010 RCV002451978 RCV002333816 RCV002326308 RCV002353076 RCV002333005 RCV002353927 RCV002347255 RCV002337887 RCV002355674 RCV002353701 RCV000160364 RCV000160360 RCV002354404 RCV000160335 RCV002351690 RCV002382621 RCV002416824 RCV002371546 RCV002409987 RCV002369497 RCV002367187 RCV002382767 RCV002443412 RCV002383284 RCV002383286 RCV002380562 RCV002401455 RCV002387778 RCV002401205 RCV002398825 RCV002404234 RCV002403053 RCV002413054 RCV002443792 RCV002433022 RCV002433046 RCV002421658 RCV002430470 RCV002430952 RCV002410925 RCV002417418 RCV002455371 RCV002455396 RCV002426033 RCV002429036 RCV002423984 RCV002424279 RCV002448052 RCV000165998 RCV000166762 RCV000166665 RCV000167209 RCV000165215 RCV000164287 RCV000165504 RCV000165345 RCV000164174 RCV000166003 RCV000166730 RCV000166862 RCV000167391 RCV002439581 RCV000167103 RCV000164782 RCV002441381 RCV002439416 RCV002439743 RCV002444091 RCV002435462 RCV005310948 RCV005403222 RCV000116139 RCV003167794 RCV005308844 RCV006377618 RCV003308306 RCV005782340 RCV003308314 RCV003382957 RCV005403260 RCV002381683 RCV000449028 RCV000216061 RCV000569882 RCV001019514 RCV004948212 RCV000449088 RCV000570267 RCV000210117 RCV000210200 RCV001013105 RCV000216911 RCV000215452 RCV000223392 RCV000218008 RCV000221659 RCV000216204 RCV000217387 RCV000223526 RCV000215252 RCV000217247 RCV000214929 RCV000220906 RCV000221096 RCV000214696 RCV000216493 RCV000563726 RCV000580273 RCV001013770 RCV000572341 RCV000563981 RCV003171866 RCV003171877 RCV003297026 RCV003297029 RCV003297037 RCV004334127 RCV004334128 RCV005782391 RCV004334130 RCV004334131 RCV004949073 RCV005537574 RCV005323418 RCV005782392 RCV003382370 RCV003382373 RCV003382382 RCV004949112 RCV003585039 RCV003585041 RCV003585053 RCV005402086 RCV004517830 RCV004517834 RCV004517835 RCV004517836 RCV004519816 RCV004519819 RCV004519857 RCV002418233 RCV000563164 RCV002323585 RCV004022325 RCV000131544 RCV002402250 RCV000571820 RCV000570668 RCV002418375 RCV005532656 RCV001011957 RCV002431385 RCV000775951 RCV003168952 RCV001014953 RCV001188865 RCV005781970 RCV000575632 RCV002455925 RCV001010722 RCV000576013 RCV000568917 RCV002431576 RCV000583417 RCV002377045 RCV006362440 RCV000561024 RCV000777273 RCV001013990 RCV000572734 RCV000565568 RCV000564352 RCV000563344 RCV000567527 RCV000569916 RCV000565670 RCV000571316 RCV000571540 RCV000564088 RCV000565681 RCV000563402 RCV000574351 RCV000565890 RCV000571146 RCV000561824 RCV000564849 RCV000575093 RCV000566442 RCV000566907 RCV000572875 RCV000568753 RCV000570826 RCV000564112 RCV000566261 RCV000568156 RCV000571057 RCV000575600 RCV000565228 RCV003302896 RCV000775422 RCV001021864 RCV000584348 RCV000581764 RCV000582871 RCV000581967 RCV000583292 RCV000582259 RCV000583047 RCV000583347 RCV000581423 RCV000584404 RCV000582657 RCV001525099 RCV002424401 RCV004025468 RCV003318380 RCV002343241 RCV004025472 RCV001182086 RCV002404775 RCV002343402 RCV001177936 RCV002386137 RCV003584699 RCV000772710 RCV005306135 RCV003165885 RCV001188622 RCV001024311 RCV004949872 RCV004948565 RCV001022811 RCV000708607 RCV000755024 RCV000771666 RCV000771734 RCV000773395 RCV000776601 RCV000771280 RCV000772817 RCV000773739 RCV000773392 RCV000773383 RCV001015489 RCV002442600 RCV002422772 RCV003344048 RCV000130909 RCV001017140 RCV001805901 RCV002370072 RCV002370167 RCV003380748 RCV005055446 RCV001525079 RCV001015813 RCV001014106 RCV001013917 RCV001012932 RCV001012636 RCV001011696 RCV001010396 RCV001010225 RCV001017416 RCV001026299 RCV001025658 RCV001025497 RCV001025301 RCV001025107 RCV001024948 RCV001024758 RCV001023591 RCV001022987 RCV001021228 RCV001019261 RCV001016521 RCV001013553 RCV001013464 RCV001012695 RCV001025549 RCV001016898 RCV001016897 RCV001015693 RCV001013114 RCV001013194 RCV001011737 RCV001018964 RCV001025065 RCV001023506 RCV004031956 RCV002445225 RCV005532815 RCV002400220 RCV004031680 RCV003307838 RCV004030985 RCV002355086 RCV002429727 RCV001179693 RCV002339217 RCV004032933 RCV001178287 RCV001183715 RCV001176377 RCV001180451 RCV001183531 RCV001179001 RCV001186421 RCV001190538 RCV001190004 RCV001178723 RCV001179941 RCV001176004 RCV002436768 RCV006372265 RCV002379841 RCV004601396 RCV002402611 RCV005782111 RCV002402586 RCV004601415 RCV002411870 RCV006372315 RCV003294163	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited ovarian cancer (without breast cancer)	Likely pathogenic; Pathogenic	rs587781655, rs775537066, rs137852986, rs1257401983	RCV006252558 RCV005237626 RCV005252666 RCV006436792	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of breast	Likely pathogenic; Pathogenic	rs587780240, rs587781321, rs2544695974, rs137852986, rs760551339, rs587781559, rs1064793887, rs1555607022, rs1603293306, rs2078107930	RCV001356017 RCV003387506 RCV002308657 RCV001355458 RCV001358606 RCV003988380 RCV001358193 RCV003987606 RCV001358574 RCV001260413	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of esophagus	Likely pathogenic; Pathogenic	rs587782047	RCV005886915	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic; Pathogenic	rs775171520, rs786203451	RCV005893588 RCV005899628	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Pathogenic	rs137852986	RCV006273047	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian cancer	Likely pathogenic; Pathogenic	rs587780224, rs587780226, rs587780228, rs587778134, rs587780236, rs587781292, rs587781321, rs368796923, rs587781985, rs574552037, rs587782410, rs587782574, rs2545137679, rs2544839475, rs2544570367, rs2544556594, rs2544554401, rs730881649, rs786202610, rs752309409, rs763009188, rs137852986, rs864622611, rs864622277, rs1057519365, rs876660203, rs876659533, rs775735278, rs779466229, rs550031006, rs1057517643, rs1057517648, rs752780954, rs760782298, rs1555616143, rs1555609191, rs1555603638, rs761639530, rs140233356, rs768736851, rs1555618727, rs1555590388, rs1555603635, rs1555605955, rs1555607792, rs1555618709	RCV005430123 RCV005430125 RCV005430126 RCV005430130 RCV005430133 RCV005430181 RCV005430184 RCV005430188 RCV005430194 RCV003155923 RCV005430200 RCV005430205 RCV003156011 RCV003156012 RCV003156013 RCV003156014 RCV003156015 RCV005430226 RCV005430243 RCV005430242 RCV005430254 RCV003155909 RCV005430270 RCV005430269 RCV005430271 RCV005430284 RCV005430281 RCV005430277 RCV003155934 RCV003154813 RCV005430348 RCV005430353 RCV003155943 RCV003155949 RCV005430364 RCV005430365 RCV005430367 RCV005430371 RCV005430372 RCV005430370 RCV005430369 RCV005430380 RCV005430378 RCV005430381 RCV005430377 RCV005430382	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian cancer, susceptibility to, 1	Likely pathogenic; Pathogenic	rs587781655	RCV005256567	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian Cancers	Likely pathogenic; Pathogenic	rs1064795649	RCV000853338	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian neoplasm	Likely pathogenic; Pathogenic	rs786203429, rs760551339, rs1064793887, rs780020495, rs1567779336	RCV001310102 RCV001310103 RCV000785425 RCV000785424 RCV000785562	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs1555573342	RCV005931159	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus cancer	Pathogenic	rs587778134	RCV003128146	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast-ovarian cancer, familial, susceptibility to, 2	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Conflicting classifications of pathogenicity; -	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP D2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP J	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Genetic non-acquired premature ovarian failure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BREAST AND/OR OVARIAN CANCER SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BREAST CARCINOMA	—	ClinGen, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary skin disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental delay	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute monocytic leukemia	Monocytic Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	28889753		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	30597358		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	36334414	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	18426915, 30250186, 30755497		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	38452035	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	26921362, 30755497	Associate	★☆☆☆☆ Found in Text Mining only
Anus Imperforate	Imperforate anus	Pubtator	33028645	Associate	★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	27052415		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30471087		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	26377036	Associate	★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	28685309		★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	28685309		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	22024395		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	22024395	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	29287594	Associate	★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	16430786, 17504528, 19763819, 20567916, 20658644, 21345144, 24306927, 24351291, 30230034		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12872252, 15113441, 15125843, 15878853, 16116424, 16430786, 17033622, 17342202, 17420451, 17504528, 17697391, 17768402, 18258506, 18302019, 18306035, 18345034, 18414782, 18426915, 18483852, 18575892, 18628483, 19092773, 19099189, 19127258, 19419957, 19519404, 19737859, 19763819, 20046159, 20567916, 20658644, 21165771, 21345144, 21409391, 21461995, 22032289, 22692731, 22725699, 22875853, 23161009, 23225146, 23276657, 23300655, 23357080, 23586058, 23935105, 24040146, 24366869, 25783186, 26709662, 26790966, 26921362, 27107905, 27108804, 28092843, 28349828, 28727877, 28796317, 28889753, 29368626, 30099541, 30136158, 30230034, 30480817, 30553462, 30799775, 30825204, 30842661, 31206626, 31822495		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Carcinoma	Breast Carcinoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Carcinoma	Breast Carcinoma	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Carcinoma	Breast Carcinoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Carcinoma	Breast Carcinoma	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Diseases	Breast Diseases	BEFREE	18483852		★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast disease	Pubtator	34261476	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	11301010, 14983014, 15113441, 15125843, 15878853, 16430786, 17145708, 17292821, 17342202, 17596542, 17697391, 18628483, 19127258, 19150983, 19419957, 19935797, 20512659, 21356067, 21799032, 22383991, 23021409, 23161009, 23530059, 23935105, 24301948, 24351291, 24366869, 24395801, 24884479, 25452441, 25570853, 26534844, 26790966, 26824983, 26921362, 26976419, 28349828, 28419251, 28727877, 28796317, 28889753, 28891274, 29287594, 30054559, 30799775, 30982232, 31206626, 31575519, 31822495, 32868316, 33146377, 33403820, 33560870, 34011307, 34261476, 34282249, 34299313, 34351577, 34672684, 36084789, 36833355, 36907870, 37231268, 37239898, 37827129, 37963558, 39226054, 40282418, 40523834, 40710214	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	20173781	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	32888398	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
Carcinogenesis	Carcinogenesis	Pubtator	17145708, 19419957, 31767869	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	18345034		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	33546375	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20127796, 34250406, 35154476, 36419136	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	33832503	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31257023, 31257027, 31257029		★☆☆☆☆ Found in Text Mining only
Carcinoma of Male Breast	Breast Carcinoma, male	BEFREE	21165771		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	26315354, 29020732, 30640700	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	29930735, 35171259	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36178067	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36907870	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	16493006, 17342202, 21964575, 24573678, 26315354, 26709662, 29252925, 29361001, 29368626, 30654010, 31822495		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	23473757, 23644138, 27415837, 28231728		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	23473757, 23644138, 26680099, 27415837, 28231728		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	17145708, 32797166, 32989015	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	25045080		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clubfoot	Clubfoot	Pubtator	22678995	Associate	★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne syndrome	Pubtator	23935105	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	23446334		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	20978114, 27657827, 31064327		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	33318301	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22526901, 23455180, 27999449, 29481800, 30597358, 31796664		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CLINVAR_DG	27165003		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20978114, 27165003, 30267214, 34390174, 35567913, 36356413, 36453019	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	20978114, 29659569, 36356413, 40282418	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	33028645	Associate	★☆☆☆☆ 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	16116421		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	BEFREE	22678995		★☆☆☆☆ 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
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	29661714		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	36334414	Inhibit	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	31518892		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	31518892		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36978091	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Intrinsic Pontine Glioma	Diffuse Intrinsic Pontine Glioma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Disorders of Sex Development	Disorders of sex development	Pubtator	31124294	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	15068237, 15068251		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	15068251, 25391381		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	16492768, 24938108	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis Congenita	BEFREE	23935105		★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis congenita	Pubtator	23935105	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	31518892		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36907870	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	26315354, 29252925, 30654010		★☆☆☆☆ Found in Text Mining only
Esophageal atresia with or without tracheoesophageal fistula	Tracheoesophageal fistula	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	35067159	Associate	★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	38452035	Associate	★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	14630800, 16153896, 17106252, 17145708, 17292821, 17342202, 17596542, 19150983, 20137776, 20639400, 22024395, 22102414, 22383991, 23157317, 23161009, 23285130, 23530059, 23935105, 24351291, 25216266, 26336824, 27165003, 27179029, 30232006, 31124294, 32989015, 33028645, 33832503	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi Anemia	Fanconi Anemia	BEFREE	16116421, 16116423, 16116424, 16153896, 16998502, 17033622, 17106252, 17342202, 17352736, 17504528, 17768402, 18258506, 18414782, 18426915, 19099189, 19519404, 19737859, 20137776, 20515746, 20567916, 20658644, 21115814, 21240188, 21567085, 22024395, 22032289, 22383991, 22725699, 23161009, 23276657, 23530059, 23935105, 24351291, 24573678, 25070891, 26336824, 26637282, 26709662, 26921362, 27179029, 30209988, 30230034, 31124294		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi Anemia	Fanconi Anemia	CLINVAR_DG	16116423, 16116424, 26968956		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi Anemia	Fanconi Anemia	GENOMICS_ENGLAND_DG	16116423, 21964575		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi Anemia	Fanconi Anemia	LHGDN	16116424, 16153896, 17033622		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi anemia	Fanconi Anemia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi Anemia	Fanconi Anemia	CTD_human_DG	20639400		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi Anemia Complementation Group J	Fanconi anemia	Pubtator	16153896, 19419957, 25070891	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	16116421, 16116423, 16116424, 16153896, 17033622, 17106252, 17342202, 17352736, 18414782, 18426915, 19099189, 19519404, 19737859, 20137776, 20515746, 20567916, 20658644, 21115814, 21240188, 21567085, 22024395, 22383991, 22725699, 23161009, 23276657, 23530059, 23935105, 24351291, 24573678, 25070891, 26336824, 26637282, 26709662, 27179029, 30209988, 30230034, 31124294		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP J	Fanconi Anemia	GENOMICS_ENGLAND_DG	14630800, 16116423, 16116424, 21964575		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP J	Fanconi Anemia	CLINGEN_DG	16116421, 16116423, 16116424, 16153896, 20639400, 26490168, 26637282		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP J	Fanconi Anemia	BEFREE	16116423, 17033622, 17596542, 19419957, 20980836, 24573678		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP J	Fanconi Anemia	UNIPROT_DG	16116423, 16116424, 20639400		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP J	Fanconi Anemia	CLINVAR_DG	16116423, 16116424, 16153896, 16280053, 16973432, 17033622, 18628483, 19127258, 19763819, 20159562, 20616022, 20639400, 21127055, 21345144, 21964575, 22006311, 22792074, 24240112, 24448499, 24556621, 24763289, 25058500, 25186627, 25330149, 25452441, 25525159, 25980754, 26270727, 26315354, 26556299, 26681312, 26681682, 26689913, 26720728, 26786923, 26822949, 26824983, 26845104, 26921362, 26976419, 27107905, 27153395, 27165003, 27179029, 27433846, 27443514, 27462233, 27498913, 27701467, 28423363, 28495237, 28961279, 29368626		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP J	Fanconi Anemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi Syndrome	Fanconi Syndrome	BEFREE	20658644		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	32231423	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28000777		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28000777		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36116740, 36181980	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	39600281	Inhibit	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	40186888	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	31067541	Associate	★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	36978091	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	30640700	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	14983014, 17342202, 19935797, 21356067, 23157317, 23300655, 26976419, 27165003, 27399284, 28796317, 29659569, 29988077, 30128536, 30232006, 30306255, 31822495, 33619228, 34299313, 37563628, 40282418	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	CLINVAR_DG	16116423, 17033622, 24448499, 24763289, 25186627, 25646469, 25980754, 26315354, 26681312, 26786923, 29625052, 30130155, 30728895		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	ORPHANET_DG	17033622		★☆☆☆☆ Found in Text Mining only
Hereditary breast and ovarian cancer syndrome	Hereditary Breast And Ovarian Cancer Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	BEFREE	19536649		★☆☆☆☆ Found in Text Mining only
Hereditary Malignant Neoplasm	Hereditary cancer	BEFREE	30230034		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	20978114, 27734215		★☆☆☆☆ 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
Hypertension	Hypertension	Pubtator	33546375	Associate	★☆☆☆☆ 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
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28420366		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	31067541		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	25128227		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	40186888	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28704479		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	22307849	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	20345481	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	21212410		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	36084789	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31257029	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	35035660, 37885353	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	29636091		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	33013825	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31939443	Associate	★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	27734215		★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	18414782		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG	11301010, 14983014		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12872252, 15113441, 15125843, 15878853, 16116424, 16430786, 17033622, 17342202, 17420451, 17504528, 17697391, 17768402, 18258506, 18302019, 18306035, 18345034, 18414782, 18426915, 18483852, 18575892, 18628483, 19092773, 19099189, 19127258, 19419957, 19519404, 19737859, 19763819, 20046159, 20567916, 20658644, 21165771, 21345144, 21409391, 21461995, 22032289, 22692731, 22725699, 22875853, 23161009, 23225146, 23276657, 23300655, 23357080, 23586058, 23935105, 24040146, 24366869, 25783186, 26709662, 26790966, 26921362, 27107905, 27108804, 28092843, 28349828, 28727877, 28796317, 28889753, 29368626, 30099541, 30136158, 30230034, 30480817, 30553462, 30799775, 30825204, 30842661, 31064327, 31206626, 31822495		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	GENOMICS_ENGLAND_DG	16116423, 21964575		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CLINVAR_DG	16116423, 16280053, 17033622, 18628483, 20159562, 20616022, 21127055, 21345144, 21964575, 22006311, 25058500, 25186627, 26270727, 26315354, 26681312, 26720728, 26824983, 26921362, 27433846, 28152038, 28709830, 29922827		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31257023, 31257027, 31257029		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	16493006, 17342202, 21964575, 24240112, 24573678, 26315354, 26709662, 29361001, 29368626, 30400647, 30654010, 31822495		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	21964575		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	GWASDB_DG	21964575		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	GWASDB_DG	22158540		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19127258, 19935797, 28889753, 29356034		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	24351291		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28415781		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15133502, 16430786, 16462773, 17063491, 18345034, 19608619, 20658644, 24366869, 26711789, 27108804, 28092843, 28245982, 28349828, 29466248, 30367621, 30480817, 30695691, 30825204, 30942098, 31822495		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	23473757, 23644138, 27415837, 28231728		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	20978114, 27657827, 31064327		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12872252, 17033622, 18557994, 19064565		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	16430786, 18628483		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24351291		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Melanoma	Pubtator	24351291	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meningioma	Meningioma	BEFREE	29581016		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	34008015, 35032816	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	28889753		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	33028645	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	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	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31740582		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	21541331		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15125843, 16101277, 16116424, 16462773, 17063491, 18345034, 21345144, 21964575, 22526901, 23455180, 26680099, 27999449, 28911102, 29481800, 29581016, 30480817, 30654010, 30842661, 31064327		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	15285897, 16116423, 16116424, 16153896, 16973432, 17033622, 18628483, 19127258, 19339519, 19763819, 20068231, 20159562, 20168331, 20346647, 20616022, 20639400, 21127055, 21345144, 21409391, 21964575, 22006311, 22692731, 22792074, 23613520, 24448499, 24556621, 24573678, 24728327, 24763289, 24895130, 25058500, 25186627, 25330149, 25452441, 25525159, 25583461, 25980754, 26296696, 26315354, 26681312, 26720728, 26786923, 26790966, 26824983, 26911350, 27107905, 27165003, 27193682, 27427815, 27433846, 27462233, 27701467, 28152038, 28423363, 28495237, 28709830		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28245982		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28790431, 29951371		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	21555518, 37919861	Associate	★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	30799775		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	31194955		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	39182017	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	32390598, 34191748	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	36932143	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CLINVAR_DG	16116423, 16116424, 16153896, 17033622, 18628483, 19127258, 20159562, 20639400, 21127055, 21964575, 22006311, 22792074, 24556621, 24763289, 25186627, 25452441, 25980754, 26315354, 26681312, 26681682, 26689913, 26720728, 26786923, 26845104, 26921362, 26976419, 27153395, 27165003, 27443514, 27498913, 28423363, 28495237, 29368626		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ovarian neoplasm	Ovarian neoplasm	BEFREE	16493006, 17342202, 21964575, 24573678, 26315354, 26709662, 29361001, 29368626, 30654010, 31822495		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ovarian neoplasm	Ovarian neoplasm	GWASCAT_DG	21964575		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	21964575		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ovarian neoplasm	Ovarian neoplasm	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	17342202, 19584272, 20386703, 24240112, 25622547, 26315354, 26718727, 28418444, 28888541, 29368626, 29988077, 30822218, 30964716, 31682005, 31822495, 32231423, 33560870, 33926482, 34075060, 34672090, 34837690, 36411032, 38041901	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic carcinoma	Pancreatic carcinoma	GWASCAT_DG	22158540		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	29961768, 35675963, 39256447, 40315568	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	37919861	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	37602966	Stimulate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	33146377, 40282418	Associate	★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	29661714		★☆☆☆☆ Found in Text Mining only
Primary peritoneal carcinoma	Peritoneal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	19935797, 29659569	Associate	★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	BEFREE	19935797		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19127258, 19935797, 28889753, 29356034		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	19127258		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19127258, 19935797, 27701467, 28889753, 29356034, 29659569, 32234758, 36446039	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	32851703	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	27959382, 28420366		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	28245982		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	36630951	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	36833355	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe Aplastic Anemia	Anemia	BEFREE	26968956		★☆☆☆☆ Found in Text Mining only
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	31124294		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	33504652	Associate	★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26711789, 30046007	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	26711789, 28440438		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28415781		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	22968820, 28415781, 32471518, 35814566, 40282418	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28415781	Inhibit	★☆☆☆☆ 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
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Transitional Meningioma	Transitional Meningioma	BEFREE	29581016		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25452441, 28085182, 31939443, 35406740, 37201465, 37672716	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30136158		★☆☆☆☆ Found in Text Mining only
Upper Extremity Deformities Congenital	Upper extremity deformity, congenital	Pubtator	33028645	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	40282418	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24708616	Associate	★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	31570747		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	20137776, 23935105		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	20137776, 23935105	Associate	★☆☆☆☆ Found in Text Mining only