BARD1 (BRCA1 associated RING domain 1)

Gene

• Entrez ID: 580
• Gene name: BRCA1 associated RING domain 1
• Gene symbol: BARD1
• Synonyms (NCBI Gene): -
• Chromosome: 2
• Chromosome location: 2q35
• Summary: This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRC

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs3738885	G>C,T	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs3738888	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign, benign	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs28997576	C>G,T	Likely-benign, risk-factor, benign	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs76744638	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs113789798	TT>-,T,TTT,TTTT,TTTTT,TTTTTT	Benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 3 prime UTR variant, genic downstream transcript variant
rs138593305	A>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant, intron variant, stop gained
rs142155101	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign-likely-benign	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs142864491	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs144856889	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs145009419	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs146946984	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs147215925	T>C	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant, non coding transcript variant
rs200254470	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs200359745	A>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs201032007	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs369561166	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs370359540	C>A	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs373257776	T>C	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Synonymous variant, non coding transcript variant, intron variant, coding sequence variant
rs376639978	C>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs377153250	G>A,C	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant, intron variant
rs587780017	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs587780020	T>A,C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs587780021	G>A,C	Pathogenic, uncertain-significance	Intron variant, missense variant, stop gained, non coding transcript variant, coding sequence variant
rs587780024	CTGTTCACATACTTTTCTTC>-,CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Genic downstream transcript variant, frameshift variant, inframe indel, stop gained, non coding transcript variant, coding sequence variant
rs587780033	T>-,TT	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs587780035	G>A,C,T	Pathogenic, likely-benign, uncertain-significance	Intron variant, missense variant, stop gained, non coding transcript variant, coding sequence variant
rs587781430	G>A	Pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs587781555	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs587781591	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs587781671	AAAT>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs587781707	G>A,C	Pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Intron variant, missense variant, stop gained, non coding transcript variant, coding sequence variant
rs587781728	A>C	Pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs587781806	C>A,T	Pathogenic, uncertain-significance	Intron variant, missense variant, stop gained, non coding transcript variant, coding sequence variant
rs587781874	T>A,C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs587781948	G>A	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs587781976	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs587782333	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs587782504	TA>-	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs587782681	G>C	Pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs587782897	AT>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs730881411	G>A,C	Pathogenic, uncertain-significance	Intron variant, missense variant, stop gained, non coding transcript variant, coding sequence variant
rs730881415	C>A,T	Pathogenic, likely-benign, uncertain-significance	Intron variant, missense variant, stop gained, non coding transcript variant, coding sequence variant
rs730881422	G>A	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs730881424	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs746325928	->T	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs747446711	C>A,T	Pathogenic, uncertain-significance	Intron variant, missense variant, stop gained, non coding transcript variant, coding sequence variant
rs750413473	CA>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs751710099	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant, intron variant
rs753153934	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs753479021	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs753537518	AGCT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, non coding transcript variant
rs753785671	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs758972589	G>A,T	Pathogenic, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant, stop gained, intron variant
rs761516178	T>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant, intron variant
rs761702998	G>A,C,T	Pathogenic, likely-benign	Non coding transcript variant, intron variant, coding sequence variant, synonymous variant, stop gained
rs762171436	A>C,G,T	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, intron variant, coding sequence variant, stop gained
rs762601855	C>G,T	Likely-pathogenic, uncertain-significance	Splice acceptor variant, genic downstream transcript variant
rs765629130	A>G,T	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, intron variant, coding sequence variant, stop gained
rs767587416	A>-	Pathogenic	Non coding transcript variant, frameshift variant, intron variant, coding sequence variant
rs768490891	C>A,G,T	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, non coding transcript variant, splice donor variant
rs772486760	->TCTT	Pathogenic	Non coding transcript variant, frameshift variant, intron variant, coding sequence variant
rs773223671	C>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, synonymous variant, stop gained, genic downstream transcript variant, coding sequence variant
rs776851287	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, stop gained
rs777937955	G>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, intron variant, stop gained, coding sequence variant
rs779427628	AT>-	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs780627045	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, non coding transcript variant, missense variant, synonymous variant
rs781482219	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant, intron variant
rs786201868	CT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs786201912	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs786202118	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, stop gained, non coding transcript variant, missense variant, genic downstream transcript variant
rs786202500	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs786202559	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs786203533	TCAC>CAT	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs786203739	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs786203811	TG>-	Pathogenic, uncertain-significance	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs786203891	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs796666047	G>C,T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs864622223	TT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs864622239	T>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs876658260	T>A,C,G	Likely-pathogenic, uncertain-significance	Splice acceptor variant, genic downstream transcript variant
rs876658429	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs876658571	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs876658905	C>T	Likely-pathogenic	Splice acceptor variant, intron variant
rs876659560	T>-	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs876659572	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs876659752	AA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs876659894	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs876660061	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs876660237	C>A,T	Likely-pathogenic	Splice donor variant, intron variant
rs876660390	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs876660761	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs876660911	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs878853995	G>C,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs878854003	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, intron variant, non coding transcript variant, missense variant
rs878854011	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs879253879	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs879253880	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, stop gained, non coding transcript variant, missense variant, genic downstream transcript variant
rs879253952	C>T	Pathogenic	Splice acceptor variant, intron variant
rs879254139	C>A,T	Likely-pathogenic	Splice acceptor variant, intron variant
rs879254264	TAAAATACA>-	Likely-pathogenic	Splice acceptor variant, intron variant
rs905491643	C>A,G,T	Pathogenic, uncertain-significance	Intron variant, stop gained, missense variant, non coding transcript variant, coding sequence variant
rs999444545	->A	Pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1025329798	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs1057517589	TC>-	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, intron variant
rs1060501287	G>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, intron variant
rs1060501288	C>A,G,T	Uncertain-significance, pathogenic	Non coding transcript variant, intron variant, missense variant, coding sequence variant, stop gained
rs1060501291	T>A,G	Uncertain-significance, pathogenic	Non coding transcript variant, intron variant, missense variant, coding sequence variant, stop gained
rs1060501310	C>G,T	Likely-pathogenic	Splice donor variant, intron variant
rs1064792931	AGCAGCAATAGCGATTTCATACTTTCATCATCTGT>CGC	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, intron variant
rs1064793682	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, intron variant
rs1064795005	T>A,C	Likely-pathogenic, uncertain-significance	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant, stop gained
rs1064796026	->T	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs1172609046	A>C	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1213894295	C>T	Pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant
rs1234033325	A>C	Likely-pathogenic	Splice donor variant, intron variant
rs1316885634	T>C	Pathogenic	Intron variant, splice acceptor variant
rs1350570988	G>A,C	Likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1364256214	T>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, intron variant
rs1405646805	G>A,C	Pathogenic, uncertain-significance	Non coding transcript variant, intron variant, missense variant, coding sequence variant, stop gained
rs1420243208	TT>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1453894904	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, non coding transcript variant, intron variant, stop gained
rs1475396127	T>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs1482641121	GA>-	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1553612164	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1553612184	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553612205	->T	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553612222	CCCAC>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553614963	->A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1553615092	T>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553615102	GTCAAACTCAGTATATTTT>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553615135	G>A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1553615184	CT>-	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, splice acceptor variant
rs1553616339	CCAAAGCTAAATCCATACTTACTAC>-	Likely-pathogenic	Splice donor variant, intron variant, non coding transcript variant, coding sequence variant
rs1553616352	->TAGCTGAGGATGATTCATTCTTCTCTGGT	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553616361	->TCTCT	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553619196	A>G	Likely-pathogenic	Splice donor variant, intron variant
rs1553619249	->A	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553619258	->T	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553619349	G>T	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1553619688	->C	Likely-pathogenic	Splice donor variant, intron variant, non coding transcript variant, coding sequence variant
rs1553619704	T>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553619713	TT>ATG	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553619721	G>A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1553622103	TCCT>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553622106	C>A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1553622145	T>-	Likely-pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1553622160	TAGAC>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553622164	GACA>-	Pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553622178	->T	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1553622216	A>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553622218	C>A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1553622300	->G	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553622342	TA>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553622378	->A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1553622397	->T	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553622471	G>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553622487	->T	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553622530	C>T	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1553622534	C>A,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant, intron variant, non coding transcript variant
rs1553622542	G>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553622558	->C	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553622669	T>A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1553622681	->A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1553622720	C>A,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant, intron variant, non coding transcript variant
rs1553624758	TTAT>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553624801	C>-	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1553624802	G>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553624830	TTAC>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1559371635	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained
rs1559372578	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained
rs1559372682	->AA	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1559387024	A>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1559410146	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1559423185	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs1559423694	->ACCT	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1559424302	->A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1559424634	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1559425010	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1559425098	GAGATAACAG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1559425604	T>-,TT	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1559426428	C>A	Likely-pathogenic	Splice acceptor variant, intron variant
rs1559437094	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1559437198	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs1559437264	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1559441760	A>G	Likely-pathogenic	Splice donor variant, intron variant
rs1559441846	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1574702099	TT>-	Uncertain-significance, likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1574706516	ATAGTATGTCATAATAAGAACAATGAAAGTTGTATTAAAAGAAAAATACCAGCTGTTCTCTGTTGAGCCTGCTTCTGCGTGGACCTTCAGGAATTTCATACTTTTCTTCCTGTTCACATA>-	Likely-pathogenic	Intron variant, non coding transcript variant, genic downstream transcript variant, splice donor variant, coding sequence variant
rs1574706907	AGGAATTTCATACTTTTCTTC>-	Likely-pathogenic	Inframe deletion, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1574737047	A>G,T	Likely-pathogenic	Splice donor variant, intron variant
rs1574739005	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574739114	T>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574739207	CACT>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574739562	->A	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574756047	G>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574756672	C>T	Likely-pathogenic	Splice acceptor variant, intron variant
rs1574815812	TAGA>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574816645	TAATGTAGAAG>CAA	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574818696	TCACT>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574818832	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574819607	A>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574820590	->GA	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574821103	->G	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574821129	->C	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574821575	TTGTTTC>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574839460	T>A	Pathogenic	Stop gained, non coding transcript variant, intron variant, coding sequence variant
rs1574847428	A>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004138	hsa-miR-192-5p	Microarray	16822819
MIRT016283	hsa-miR-193b-3p	Microarray	20304954
MIRT024951	hsa-miR-215-5p	Microarray	19074876
MIRT004138	hsa-miR-192-5p	Microarray	19074876
MIRT437454	hsa-miR-182-5p	Luciferase reporter assay	23249749
MIRT531997	hsa-miR-4760-3p	PAR-CLIP	22012620
MIRT531996	hsa-miR-500b-3p	PAR-CLIP	22012620
MIRT531995	hsa-miR-6501-3p	PAR-CLIP	22012620
MIRT531994	hsa-miR-610	PAR-CLIP	22012620
MIRT531993	hsa-miR-6802-3p	PAR-CLIP	22012620
MIRT531992	hsa-miR-3942-3p	PAR-CLIP	22012620
MIRT531997	hsa-miR-4760-3p	PAR-CLIP	22012620
MIRT531996	hsa-miR-500b-3p	PAR-CLIP	22012620
MIRT531995	hsa-miR-6501-3p	PAR-CLIP	22012620
MIRT531994	hsa-miR-610	PAR-CLIP	22012620
MIRT531993	hsa-miR-6802-3p	PAR-CLIP	22012620
MIRT531992	hsa-miR-3942-3p	PAR-CLIP	22012620
MIRT755769	hsa-miR-4796-5p	Luciferase reporter assay, Western blotting, qRT-PCR, in vitro cullelar assays, GFP reporter assay	37460775
MIRT815871	hsa-miR-101	CLIP-seq
MIRT815872	hsa-miR-1206	CLIP-seq
MIRT815873	hsa-miR-1537	CLIP-seq
MIRT815874	hsa-miR-1973	CLIP-seq
MIRT815875	hsa-miR-19a	CLIP-seq
MIRT815876	hsa-miR-19b	CLIP-seq
MIRT815877	hsa-miR-203	CLIP-seq
MIRT815878	hsa-miR-342-3p	CLIP-seq
MIRT815879	hsa-miR-369-3p	CLIP-seq
MIRT815880	hsa-miR-374a	CLIP-seq
MIRT815881	hsa-miR-374b	CLIP-seq
MIRT815882	hsa-miR-378g	CLIP-seq
MIRT815883	hsa-miR-4437	CLIP-seq
MIRT815884	hsa-miR-4490	CLIP-seq
MIRT815885	hsa-miR-4674	CLIP-seq
MIRT815886	hsa-miR-4719	CLIP-seq
MIRT815887	hsa-miR-4774-5p	CLIP-seq
MIRT815888	hsa-miR-548ac	CLIP-seq
MIRT815889	hsa-miR-548ae	CLIP-seq
MIRT815890	hsa-miR-548aj	CLIP-seq
MIRT815891	hsa-miR-548am	CLIP-seq
MIRT815892	hsa-miR-548d-3p	CLIP-seq
MIRT815893	hsa-miR-548x	CLIP-seq
MIRT815894	hsa-miR-548z	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
BRIP1	Unknown	20451671

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	NAS	14976165
GO:0000152	Component	Nuclear ubiquitin ligase complex	IDA	14636569
GO:0001894	Process	Tissue homeostasis	TAS	15782130
GO:0003723	Function	RNA binding	IDA	12419249
GO:0004842	Function	Ubiquitin-protein transferase activity	IBA
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	12890688, 20351172
GO:0004842	Function	Ubiquitin-protein transferase activity	NAS	15905410
GO:0005515	Function	Protein binding	IPI	8944023, 10026184, 10477523, 15184379, 15265711, 15383276, 15782130, 17873885, 19117993, 19369211, 20351172, 20379136, 22110403, 23680151, 24981860, 25416956, 29656893, 31270457, 31515488, 32296183, 33961781, 34591612, 35512704
GO:0005634	Component	Nucleus	IDA	9342365, 14636569, 15265711
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	15632137
GO:0005634	Component	Nucleus	NAS	18171670, 20656689, 22369660
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	15265711
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	NAS	22369660
GO:0006282	Process	Regulation of DNA repair	NAS	20656689
GO:0006338	Process	Chromatin remodeling	TAS	35351360
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	35351360
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	NAS	15905410, 16651405
GO:0008270	Function	Zinc ion binding	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	NAS	15905410
GO:0016607	Component	Nuclear speck	IDA
GO:0016740	Function	Transferase activity	IEA
GO:0019900	Function	Kinase binding	NAS	15782130
GO:0031436	Component	BRCA1-BARD1 complex	IBA
GO:0031436	Component	BRCA1-BARD1 complex	IDA	12890688, 15265711, 19117993, 20351172
GO:0031436	Component	BRCA1-BARD1 complex	IPI	11573085
GO:0031441	Process	Negative regulation of mRNA 3'-end processing	NAS	15905410
GO:0035825	Process	Homologous recombination	NAS	22369660, 30657944
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA
GO:0042325	Process	Regulation of phosphorylation	IMP	15782130
GO:0042803	Function	Protein homodimerization activity	IPI	15265711
GO:0043065	Process	Positive regulation of apoptotic process	IMP	15782130
GO:0043066	Process	Negative regulation of apoptotic process	IMP	15265711
GO:0044818	Process	Mitotic G2/M transition checkpoint	NAS	22369660
GO:0045732	Process	Positive regulation of protein catabolic process	NAS	15905410
GO:0045786	Process	Negative regulation of cell cycle	NAS	15159397
GO:0046826	Process	Negative regulation of protein export from nucleus	IDA	15265711
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	15265711
GO:0051726	Process	Regulation of cell cycle	NAS	15632137
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061649	Function	Ubiquitin-modified histone reader activity	TAS	35351360
GO:0070531	Component	BRCA1-A complex	IBA
GO:0070531	Component	BRCA1-A complex	IDA	17525342, 19261748, 19261749
GO:0070531	Component	BRCA1-A complex	NAS	20656689
GO:0070532	Component	BRCA1-B complex	IPI	16391231
GO:0070533	Component	BRCA1-C complex	IPI	16391231
GO:0071479	Process	Cellular response to ionizing radiation	IMP	14636569
GO:0085020	Process	Protein K6-linked ubiquitination	IBA
GO:0085020	Process	Protein K6-linked ubiquitination	IDA	12890688, 20351172
GO:0110025	Process	DNA strand resection involved in replication fork processing	NAS	29709199
GO:0140863	Function	Histone H2AK127 ubiquitin ligase activity	TAS	35351360
GO:0140864	Function	Histone H2AK129 ubiquitin ligase activity	TAS	35351360
GO:2000001	Process	Regulation of DNA damage checkpoint	NAS	14636569

Other IDs

• MIM: 601593
• HGNC: 952
• e!Ensembl: ENSG00000138376

Protein

• UniProt ID: Q99728
• Protein name: BRCA1-associated RING domain protein 1 (BARD-1) (EC 2.3.2.27) (RING-type E3 ubiquitin transferase BARD1)
• Protein function: E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptiona
• PDB: 1JM7, 2NTE, 2R1Z, 3C5R, 3FA2, 6M14, 7E8I, 7JZV, 7LYB, 7LYC, 8GRQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14835	zf-RING_6	41 → 105	zf-RING of BARD1-type protein	Domain
  PF00023	Ank	427 → 459	Ankyrin repeat	Repeat
  PF00023	Ank	460 → 491	Ankyrin repeat	Repeat
  PF00023	Ank	494 → 525	Ankyrin repeat	Repeat

• Sequence:

  MPDNRQPRNRQPRIRSGNEPRSAPAMEPDGRGAWAHSRAALDRLEKLLRCSRCTNILREP
  VCLGGCEHIFCSNCVSDCIGTGCPVCYTPAWIQDLKINRQLDSMIQLCSKLRNLLHDNEL
  SDLKEDKPRKSLFNDAGNKKNSIKMWFSPRSKKVRYVVSKASVQTQPAIKKDASAQQDSY
  EFVSPSPPADVSERAKKASARSGKKQKKKTLAEINQKWNLEAEKEDGEFDSKEESKQKLV
  SFCSQPSVISSPQINGEIDLLASGSLTESECFGSLTEVSLPLAEQIESPDTKSRNEVVTP
  EKVCKNYLTSKKSLPLENNGKRGHHNRLSSPISKRCRTSILSTSGDFVKQTVPSENIPLP
  ECSSPPSCKRKVGGTSGRKNSNMSDEFISLSPGTPPSTLSSSSYRRVMSSPSAMKLLPNM
  AVKRNHRGETLLHIASIKGDIPSVEYLLQNGSDPNVKDHAGWTPLHEACNHGHLKVVELL
  LQHKALVNTTGYQNDSPLHDAAKNGHVDIVKLLLSYGASRNAVNIFGLRPVDYTDDESMK
  SLLLLPEKNESSSASHCSVMNTGQRRDGPLVLIGSGLSSEQQKMLSELAVILKAKKYTEF
  DSTVTHVVVPGDAVQSTLKCMLGILNGCWILKFEWVKACLRRKVCEQEEKYEIPEGPRRS
  RLNREQLLPKLFDGCYFYLWGTFKHHPKDNLIKLVTAGGGQILSRKPKPDSDVTQTINTV
  AYHARPDSDQRFCTQYIIYEDLCNYHPERVRQGKVWKAPSSWFIDCVMSFELLPLDS

• Sequence length: 777

Pathways

KEGG:

Homologous recombination

Reactome:

HDR through Single Strand Annealing (SSA)
HDR through Homologous Recombination (HRR)
UCH proteinases
Metalloprotease DUBs
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Resolution of D-loop Structures through Holliday Junction Intermediates
Nonhomologous End-Joining (NHEJ)
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
BARD1-related cancer predisposition	Likely pathogenic; Pathogenic	rs587782348, rs587780021, rs587780024, rs2106134639, rs587781948, rs587782681, rs2469503276, rs730881411, rs779427628, rs786202500, rs786201912, rs864622223, rs750413473, rs773223671, rs753785671, rs768490891	RCV005601772 RCV005359081 RCV005600670 RCV005370020 RCV005600720 RCV005359290 RCV005370200 RCV005359344 RCV005600788 RCV005600780 RCV005600774 RCV005365136 RCV005365150 RCV005357629 RCV005600984 RCV005601058	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARD1-related disorder	Pathogenic	rs587780021, rs587781707, rs587782681, rs587782897, rs1553622542	RCV003415888 RCV004739436 RCV003945152 RCV004739465 RCV003403349	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast and/or ovarian cancer	Pathogenic; Likely pathogenic	rs587780021, rs758972589, rs750413473, rs1234033325	RCV001270956 RCV001270959 RCV001270958 RCV001270957	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast cancer, susceptibility to	Pathogenic	rs587781707	RCV000501812	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast carcinoma	Likely pathogenic; Pathogenic	rs377153250, rs1574737047	RCV001554323 RCV001568338	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast neoplasm	Likely pathogenic; Pathogenic	rs1553622530	RCV000504616	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial carcinoma	Pathogenic	rs587780021	RCV003128144	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs2105986664, rs587782348, rs2105987749, rs2106075317, rs2106112761, rs2106135562, rs2106145519, rs2106020750, rs2106021020, rs2106021114, rs2106076377, rs758278293, rs2106109048, rs2106109750, rs2106110129, rs2106110871, rs2106111411, rs2106135008, rs1574756672, rs2106134408, rs587780021, rs587780024, rs587780033, rs2106076720, rs2106134415, rs2106171367, rs1559424358, rs1553619704, rs2105987094, rs2106108885, rs1424761304, rs1694273552, rs1693509336, rs2106107966, rs2105987421, rs2106110487, rs2106081379, rs2105987971, rs2105986813, rs2106076135, rs2106108347, rs2106077292, rs2106134639, rs2106145629, rs2106171232, rs2106108903, rs587781430, rs587781671, rs587781707, rs587781728, rs587781948, rs767208318, rs587782504, rs587782681, rs587782897, rs2469510248, rs1553628365, rs761090896, rs730881422, rs730881415, rs730881411, rs999444545, rs746325928, rs2469511702, rs786202118, rs786203811, rs786203739, rs786203533, rs786202559, rs786201868, rs779427628, rs786202500, rs758972589, rs786201912, rs2469506925, rs2469506149, rs2469505861, rs1443184602, rs2469377733, rs2469377325, rs2469443673, rs2469337779, rs2469454164, rs2469270823, rs2469503962, rs2469268815, rs1553612184, rs1694984038, rs2469337523, rs876660237, rs876658905, rs2469267341, rs2469338229, rs2469560081, rs1336824977, rs2469510104, rs2469510405, rs2469338564, rs1553628351, rs2469342952, rs1695014214, rs1574839902, rs2469560940, rs1262069856, rs2469502451, rs2469560396, rs2469342130, rs2469342544, rs2469507940, rs2106135360, rs864622223, rs750413473, rs876659572, rs876659894, rs876658429, rs876660390, rs876660911, rs377153250, rs876660061, rs876659752, rs587780035, rs772486760, rs876658571, rs876659040, rs752514155, rs878853995, rs2469270108, rs2469454780, rs2469507806, rs879253952, rs879254264, rs879253879, rs879254139, rs879254280, rs1559372004, rs1060501310, rs2469506085, rs2469639907, rs1694363292, rs2469639957, rs2469442686, rs2469442633, rs2469337481, rs2469277857, rs2469342920, rs2469442935, rs2106111914, rs2469506291, rs786203051, rs2469510019, rs2469378204, rs2106110358, rs2469637685, rs2469338125, rs2469378890, rs2469509161, rs2469271103, rs2469638231, rs2469442863, rs2469269909, rs2469277351, rs2469454517, rs2469513640, rs2469509820, rs2469506018, rs2469560852, rs1574702099, rs2469444065, rs2469444923, rs2469269625, rs2469503482, rs2469514725, rs2469512011, rs2469560933, rs2469338042, rs2469377567, rs2469378366, rs2469269959, rs2469500676, rs1574739005, rs2469502770, rs2469338019, rs2469560027, rs1695567474, rs2469444462, rs2469637252, rs1693089850, rs2469513513, rs774883556, rs2469503239, rs2469267740, rs2469513098, rs1478133549, rs2469561106, rs1436038663, rs2469513625, rs2469269005, rs2469269067, rs2469512063, rs2469637148, rs2469505677, rs2469510048, rs2469509273, rs2469501357, rs2469508458, rs2469509221, rs2469268677, rs2469501426, rs2469504219, rs2469270376, rs2469276251, rs2469581775, rs2469508359, rs2469343545, rs2469500161, rs2469341667, rs2469343013, rs2469504712, rs2469507501, rs2469509100, rs2469637444, rs2469639836, rs2469639844, rs2469561153, rs762601855, rs2106111008, rs2469507059, rs2469342079, rs2469454035, rs2469512685, rs876659387, rs758190979, rs2469511563, rs2106170807, rs2469512226, rs2469378852, rs2106108500, rs1696468736, rs201146688, rs2469505429, rs2469503410, rs747122703, rs2469503108, rs2469512652, rs2469562035, rs2469511280, rs2469505467, rs1695029110, rs1416123568, rs2469269137, rs2469277929, rs749378322, rs2469510700, rs2469638497, rs2469269496, rs2469343074, rs767395666, rs1559387297, rs1559441760, rs2469342140, rs2469503075, rs2469445068, rs2469443217, rs2469511668, rs1695019560, rs2469505710, rs2469514913, rs1426045227, rs780820468, rs2469342786, rs2469502350, rs2469443496, rs2469513544, rs2469379191, rs1057517589, rs796666047, rs777937955, rs1553619258, rs1064792931, rs1060501287, rs1553622487, rs776851287, rs1064796026, rs1064793682, rs1553622530, rs1553622145, rs587780037, rs1064795005, rs1553622216, rs1259296823, rs768490891, rs765629130, rs1553615102, rs1553616352, rs1553622471, rs1405646805, rs1553619349, rs1553622669, rs773223671, rs1234033325, rs751710099, rs1553615135, rs1553615184, rs1553616361, rs1553619196, rs1213894295, rs1553619721, rs753785671, rs1553615092, rs1553619249, rs1553622378, rs767587416, rs1553622534, rs761702998, rs1553622160, rs1553622178, rs1553622164, rs1553622558, rs1060501288, rs1553622397, rs1553628410, rs1553622542, rs1553624830, rs1553624758, rs1553624801, rs1553628445, rs1350570988, rs1553612164, rs1553622681, rs1553622218, rs1553622300, rs1553624802, rs1553612222, rs1553619713, rs1553622103, rs1553628482, rs1060501291, rs1553612205, rs1553616339, rs1553614963, rs762171436, rs1559423694, rs1364256214, rs1482641121, rs1559437264, rs1559425010, rs1559425098, rs1453894904, rs1559410146, rs1559425604, rs1559441846, rs1559426428, rs1559387024, rs1559371635, rs878854003, rs1420243208, rs1559437094, rs1574703115, rs1574739207, rs1574815812, rs1172609046, rs1574820590, rs1574821575, rs1574847428, rs1574737047, rs1574818832, rs879253880, rs1559372578, rs1574739114, rs753537518, rs1574756047, rs1574818696, rs905491643, rs1574821129, rs587781806, rs1574839460, rs1574869326, rs1358155595, rs1692204026, rs1692216921, rs1328046615, rs1693074467, rs1693504040, rs1694972567, rs1694972839, rs1064793049, rs750350372, rs1559437226, rs1693019491, rs1692211675, rs1693089932, rs1692302934, rs1694365908, rs1694947319, rs1695009134, rs1696452439, rs1692227690, rs1692308262, rs1694939675, rs730881425, rs1693042024, rs1694365276, rs1692217798, rs1694360411, rs1694949382, rs1694934695, rs1693044156, rs1064793959, rs1370053894	RCV001377484 RCV001377053 RCV001378861 RCV001379806 RCV001378288 RCV001377233 RCV001379969 RCV001380298 RCV001382116 RCV001391008 RCV001386784 RCV003501324 RCV001390445 RCV001387243 RCV001389853 RCV001382608 RCV001384862 RCV001382119 RCV001730131 RCV003336439 RCV000205536 RCV000200198 RCV000464884 RCV001930340 RCV001989630 RCV002021886 RCV001994594 RCV001964080 RCV001950848 RCV002025381 RCV001879717 RCV002007896 RCV001962020 RCV001998229 RCV001997229 RCV002038224 RCV002002362 RCV001899199 RCV002037246 RCV002046249 RCV002037429 RCV001946935 RCV001966470 RCV001896769 RCV001898972 RCV001935215 RCV001951319 RCV000692258 RCV003335114 RCV000206283 RCV003335118 RCV000234673 RCV001981212 RCV000541460 RCV000195626 RCV000635815 RCV002289282 RCV002289388 RCV003156035 RCV000225939 RCV001850251 RCV000471276 RCV003098207 RCV003336552 RCV003336558 RCV003500508 RCV000635703 RCV001377223 RCV003335168 RCV000810857 RCV000703920 RCV000464643 RCV000691023 RCV000233846 RCV000459220 RCV005421299 RCV003336582 RCV003336584 RCV003096975 RCV003100775 RCV003336711 RCV003336706 RCV003100685 RCV003500778 RCV003500762 RCV005097917 RCV003098684 RCV003336727 RCV003336729 RCV003500785 RCV005248804 RCV003336757 RCV003336761 RCV002467465 RCV002651599 RCV002618633 RCV002751565 RCV002796130 RCV002846310 RCV002851581 RCV002852501 RCV002876454 RCV002852321 RCV002876174 RCV002848345 RCV002881006 RCV002894533 RCV002882017 RCV003012514 RCV002991749 RCV003009815 RCV002991676 RCV003017577 RCV003038126 RCV000203908 RCV000476131 RCV002515701 RCV000697713 RCV002515675 RCV003335242 RCV000705246 RCV002519741 RCV000560121 RCV000800707 RCV001204956 RCV003335240 RCV000688045 RCV000635720 RCV003335252 RCV000458694 RCV000231412 RCV003140317 RCV003140344 RCV003336827 RCV001854853 RCV003335288 RCV005090188 RCV000552182 RCV000699165 RCV003335294 RCV003336839 RCV003336840 RCV003336841 RCV003316929 RCV003316937 RCV003316965 RCV003317014 RCV003325270 RCV003330264 RCV003336877 RCV003336881 RCV003336891 RCV003336902 RCV003336903 RCV003336906 RCV003336907 RCV003336911 RCV003336912 RCV003336914 RCV003336931 RCV003336936 RCV003336938 RCV003336941 RCV003336944 RCV003336951 RCV003336953 RCV003336961 RCV003336963 RCV003336970 RCV003336972 RCV003336974 RCV003336984 RCV003336985 RCV003336990 RCV003336994 RCV003336995 RCV003336998 RCV003336999 RCV003337006 RCV003337019 RCV003337027 RCV003337030 RCV003337040 RCV003337042 RCV003337048 RCV003337056 RCV003337057 RCV003337058 RCV003337068 RCV003337074 RCV003337078 RCV003337096 RCV003337120 RCV003337138 RCV003337151 RCV003337154 RCV003337178 RCV003337206 RCV003337215 RCV003334476 RCV003334484 RCV003334491 RCV003334500 RCV003334504 RCV003334520 RCV003334521 RCV003334529 RCV003334530 RCV003334541 RCV003334545 RCV003334548 RCV003334553 RCV003334557 RCV003334559 RCV003334564 RCV003334576 RCV003334585 RCV003334590 RCV003334598 RCV003334601 RCV003334602 RCV003334613 RCV003334614 RCV003334616 RCV003334620 RCV003334624 RCV003334633 RCV003334635 RCV003334639 RCV003334652 RCV003334655 RCV003334659 RCV003334663 RCV003334682 RCV003334692 RCV003334695 RCV003334697 RCV003334701 RCV003334707 RCV003335556 RCV003335567 RCV003335595 RCV003335625 RCV003335649 RCV003335651 RCV003335652 RCV003335653 RCV003335654 RCV003335693 RCV003335714 RCV003335747 RCV003335749 RCV003335754 RCV003335758 RCV003335760 RCV003335764 RCV003464991 RCV003464995 RCV003464996 RCV003464997 RCV003464998 RCV003465002 RCV003465003 RCV003465004 RCV003465005 RCV003465007 RCV003465008 RCV003450439 RCV003450495 RCV003452216 RCV003607601 RCV005356449 RCV003501137 RCV003501149 RCV003501175 RCV003501648 RCV003501693 RCV003501902 RCV003500240 RCV003500298 RCV003500309 RCV003501010 RCV003500402 RCV003501000 RCV003607992 RCV003607945 RCV003608181 RCV003608217 RCV003608308 RCV004440013 RCV004440236 RCV004442546 RCV004442572 RCV004442624 RCV004573987 RCV004589344 RCV004589369 RCV000411385 RCV000685501 RCV001388794 RCV000474756 RCV000458026 RCV000473816 RCV000461547 RCV000460296 RCV000462626 RCV001208591 RCV001389591 RCV002527116 RCV001231568 RCV001865645 RCV005091214 RCV000531334 RCV000531970 RCV000545124 RCV000547826 RCV000550898 RCV000555789 RCV000533603 RCV000535461 RCV000532723 RCV000542957 RCV000546594 RCV000635845 RCV000635609 RCV000804746 RCV001386467 RCV001377408 RCV003335478 RCV003335516 RCV001865702 RCV003335479 RCV000706252 RCV000635897 RCV000792839 RCV000805317 RCV002526770 RCV001205384 RCV001858245 RCV001060889 RCV003335494 RCV000635849 RCV002528107 RCV003335477 RCV000635745 RCV000796390 RCV001043352 RCV001036995 RCV000687080 RCV002530247 RCV003335475 RCV001384311 RCV003335493 RCV000576422 RCV003336065 RCV001853907 RCV001042194 RCV002529209 RCV003336064 RCV003336066 RCV000635702 RCV000635869 RCV003336099 RCV000635614 RCV000635799 RCV000635770 RCV000635938 RCV000635760 RCV000635810 RCV000635701 RCV000635606 RCV000635947 RCV001387044 RCV000686965 RCV000704468 RCV000692919 RCV000685682 RCV000698430 RCV000702035 RCV000693671 RCV000703645 RCV000688795 RCV000685328 RCV000696293 RCV000685528 RCV000694698 RCV000708903 RCV003336180 RCV000800395 RCV001389579 RCV001856063 RCV000800890 RCV000793898 RCV000802773 RCV000817773 RCV000815208 RCV000794208 RCV000810353 RCV000812313 RCV000814088 RCV000823921 RCV000851188 RCV000987012 RCV001221656 RCV001037336 RCV001058564 RCV002549373 RCV003336234 RCV001388455 RCV003336270 RCV001862306 RCV001862269 RCV001862215 RCV003461381 RCV003336265 RCV003336240 RCV002549361 RCV005621062 RCV001070842 RCV001051112 RCV001051179 RCV001056443 RCV001067894 RCV001053555 RCV001067489 RCV001058680 RCV001052253 RCV001060643 RCV001066886 RCV001048460 RCV001038535 RCV003336310 RCV001873646 RCV003336322 RCV003336316 RCV003449609 RCV001862946 RCV003336320 RCV001862998 RCV001216428 RCV001215714 RCV001214785 RCV001202611 RCV001212161 RCV001213466 RCV001247123 RCV001245304 RCV001244479 RCV001229381 RCV001230420 RCV001253486 RCV001257155 RCV001880167	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric cancer	Likely pathogenic; Pathogenic	rs1424761304, rs2106076135, rs587781948, rs730881411, rs876659894, rs1694984038, rs2469507728, rs2469337523, rs2469504845, rs2469509131, rs2469510863, rs2469513748, rs876660237, rs587780024, rs751710099, rs1553616361, rs1553619721, rs1553622218	RCV003170297 RCV003164006 RCV003162583 RCV003162672 RCV003164555 RCV003164611 RCV003164612 RCV003164636 RCV003164657 RCV003164658 RCV003164659 RCV003164660 RCV003164718 RCV003165702 RCV003159961 RCV003159955 RCV003159956 RCV003159979	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary breast ovarian cancer syndrome	Pathogenic; Likely pathogenic	rs587780021, rs587780024, rs587780033, rs587781948, rs587782681, rs2106112637, rs730881411, rs2469377733, rs750413473, rs876660390, rs377153250, rs879253952, rs879254139, rs767395666, rs1553619721, rs753785671, rs796666047, rs1574821103	RCV000588742 RCV000587422 RCV004760378 RCV000781932 RCV001201181 RCV002226339 RCV001030673 RCV005239424 RCV006261700 RCV003987457 RCV002225514 RCV004764783 RCV000587901 RCV005100354 RCV001030609 RCV005056193 RCV000780952 RCV000780948 RCV001030672	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs587782348, rs2106135562, rs2106145519, rs2106021114, rs2106109048, rs2106109750, rs2106110871, rs2106135008, rs2106134408, rs587780021, rs587780024, rs587780033, rs2106076720, rs2105986813, rs2106077292, rs587781430, rs587781671, rs587781707, rs587781728, rs587781948, rs767208318, rs587782504, rs587782681, rs587782897, rs2106110712, rs2469510248, rs1553628365, rs761090896, rs2469503276, rs2469513563, rs2469514179, rs730881422, rs730881411, rs999444545, rs755693106, rs746325928, rs2469511702, rs2469509572, rs786202118, rs786203811, rs786203739, rs786203533, rs786203891, rs786202559, rs786201868, rs779427628, rs786202500, rs758972589, rs786201912, rs2469506925, rs2469506149, rs2469639309, rs2469505861, rs1443184602, rs2469377733, rs2469377723, rs2469377349, rs2469377325, rs2469443549, rs2106076135, rs2469338532, rs2469443673, rs2469337779, rs2469454164, rs1559409580, rs2469505389, rs1553614952, rs2469337978, rs2469270823, rs2105987094, rs2469561494, rs149262370, rs2469503962, rs2469268815, rs2469561564, rs1553612184, rs2469638141, rs2469267150, rs2469637256, rs2469267341, rs2469338229, rs2469560940, rs864622223, rs750413473, rs876660237, rs876659572, rs876659894, rs876658429, rs876660390, rs876660911, rs377153250, rs876660061, rs876659752, rs587780035, rs876660761, rs772486760, rs876658571, rs876659040, rs752514155, rs876660077, rs878853995, rs2469507806, rs2469506256, rs879253879, rs879254139, rs879254280, rs1559372004, rs1060501310, rs2469454617, rs2469506085, rs2469442686, rs2469442633, rs2106111914, rs2469637685, rs2469560852, rs2469500676, rs1574739005, rs1478133549, rs2469637148, rs2469501426, rs2469509100, rs2469512685, rs876659387, rs758190979, rs2469442655, rs2469271486, rs2469277145, rs2469509853, rs2469506135, rs2469511280, rs2469269137, rs2469277929, rs753785671, rs2469502527, rs2469639640, rs2469443217, rs2469502068, rs2469443815, rs2469377585, rs2469270655, rs2469267297, rs2469512079, rs2469511724, rs1057517589, rs796666047, rs777937955, rs1060501287, rs776851287, rs1064796026, rs1553619688, rs1064793682, rs1553622145, rs587780037, rs1259296823, rs765629130, rs1553615102, rs1553622471, rs1405646805, rs1553619349, rs1553622669, rs773223671, rs747446711, rs1234033325, rs751710099, rs1553615135, rs1553615184, rs1553616361, rs1553619196, rs1213894295, rs1553619721, rs768490891, rs1553622106, rs1553615092, rs1553619249, rs1553622342, rs1553622378, rs1553619704, rs767587416, rs1553622534, rs761702998, rs1553622160, rs1553622178, rs1553622164, rs1553622558, rs1060501288, rs1553622397, rs1553628410, rs1553622542, rs1553624830, rs1553624758, rs1553624801, rs1553628445, rs1553612164, rs1553622681, rs1553622218, rs1553622300, rs1553622720, rs1553624802, rs1553612222, rs1553619713, rs762171436, rs1364256214, rs1482641121, rs1559437264, rs1559441760, rs1559410146, rs1559425604, rs1559441846, rs1559426428, rs1559387024, rs1559371635, rs1559372682, rs878854003, rs1559424302, rs1559424634, rs1420243208, rs1559437094, rs1574702099, rs1574703115, rs1172609046, rs1574737047, rs879253880, rs1559372578, rs1574739114, rs1574739562, rs753537518, rs1574756047, rs1574816645, rs1574818696, rs1574819607, rs905491643, rs1574821103, rs1574821129, rs587781806, rs1574839460, rs1574869326, rs1574706516, rs1574756672, rs1553628351, rs1358155595, rs1692216921, rs1328046615, rs1693074467, rs1693504040, rs1694972567, rs1694972839, rs750350372, rs1693509336, rs1693019491, rs1693089932, rs1692301420, rs1692302934, rs1693501054, rs1694364224, rs1694365908, rs1694947319, rs1695009134, rs1695020358, rs1695792091, rs1696452439, rs1692308262, rs1694949382, rs1693089850, rs1694934695, rs1693044156, rs1370053894	RCV002420850 RCV003584915 RCV003169942 RCV003169953 RCV002404908 RCV006377211 RCV003169946 RCV004951657 RCV001804278 RCV000115616 RCV000115621 RCV000115638 RCV004042836 RCV003161291 RCV002388954 RCV000129318 RCV000129827 RCV000129880 RCV000129918 RCV000130318 RCV004947007 RCV000131644 RCV000132107 RCV000132536 RCV002258546 RCV005520708 RCV002382507 RCV002409638 RCV002324579 RCV002332033 RCV002357666 RCV002357667 RCV000222541 RCV000213814 RCV002354023 RCV002340327 RCV002338200 RCV002359887 RCV002367491 RCV000164774 RCV000167280 RCV000167174 RCV000166882 RCV000167393 RCV000165421 RCV000164367 RCV000166193 RCV000165343 RCV000164507 RCV000164438 RCV002449943 RCV002374150 RCV002367136 RCV002387098 RCV002398418 RCV002395071 RCV002403774 RCV002414510 RCV002405950 RCV002397157 RCV002405563 RCV002410296 RCV002397013 RCV002415172 RCV002383795 RCV002403099 RCV002400968 RCV002413064 RCV002413101 RCV002422034 RCV002432649 RCV002455672 RCV002417554 RCV002425868 RCV002420101 RCV002452760 RCV002424156 RCV002424327 RCV002446333 RCV005055460 RCV003294603 RCV003365761 RCV004065949 RCV000574625 RCV000213123 RCV000220803 RCV000221033 RCV000215189 RCV000213181 RCV000213145 RCV000218088 RCV000217217 RCV000215348 RCV000219768 RCV000221541 RCV000219761 RCV000220804 RCV000219047 RCV000220228 RCV000215389 RCV000217362 RCV003584574 RCV003171424 RCV003176976 RCV004948231 RCV000565922 RCV000575860 RCV003301715 RCV003301716 RCV003301719 RCV003301726 RCV006363477 RCV004949065 RCV005774597 RCV005774598 RCV004334129 RCV006368154 RCV006368155 RCV003340678 RCV004949071 RCV005310974 RCV004334132 RCV004949075 RCV004949076 RCV005774599 RCV004949079 RCV003358165 RCV003368089 RCV003368092 RCV003358174 RCV003338936 RCV003445472 RCV004604949 RCV005403316 RCV004364823 RCV003585972 RCV003585973 RCV003585985 RCV006368424 RCV004518476 RCV004518484 RCV004518489 RCV004518503 RCV004518507 RCV004518515 RCV004518516 RCV000572595 RCV001805044 RCV000582853 RCV002379433 RCV002348302 RCV000564064 RCV000568613 RCV002329145 RCV001182959 RCV000574708 RCV001014816 RCV002431572 RCV004023837 RCV000571564 RCV003362831 RCV000565469 RCV003159784 RCV002330850 RCV000561015 RCV000562655 RCV000569389 RCV000564576 RCV000574145 RCV000568695 RCV000569516 RCV000569988 RCV000574788 RCV000562658 RCV000571298 RCV000566497 RCV000574890 RCV000566733 RCV000569869 RCV000572418 RCV000575331 RCV000567593 RCV000569130 RCV000571905 RCV000561666 RCV000570798 RCV000572895 RCV000564760 RCV000569122 RCV000562769 RCV000565570 RCV000576127 RCV000563111 RCV000574044 RCV000571407 RCV000571003 RCV000574965 RCV000574317 RCV000581178 RCV000582869 RCV000584178 RCV000582795 RCV000583718 RCV000582772 RCV000584432 RCV002420706 RCV006367172 RCV001010996 RCV002360543 RCV001025144 RCV001017353 RCV000772538 RCV002442415 RCV002259005 RCV004026577 RCV005520328 RCV002352161 RCV002406533 RCV002458250 RCV003584731 RCV000776574 RCV000776884 RCV000775105 RCV000773449 RCV000777024 RCV000777118 RCV000773687 RCV001014971 RCV002424799 RCV002381841 RCV001181191 RCV005520359 RCV001014907 RCV001014202 RCV001013058 RCV001012825 RCV001012637 RCV001012583 RCV001010218 RCV001018508 RCV001026472 RCV001025924 RCV001024945 RCV001023687 RCV001023672 RCV001022405 RCV001019704 RCV001025349 RCV001013642 RCV001013628 RCV001013627 RCV001012177 RCV001012252 RCV001179860 RCV002416385 RCV002416413 RCV004950245 RCV002393271 RCV004601353 RCV004950209 RCV005520406 RCV002400273 RCV002409377 RCV002402523 RCV001178619 RCV001190378 RCV001176172 RCV001183402 RCV001180655 RCV001187216 RCV001187014 RCV001187568 RCV001180093 RCV001191705 RCV001189519 RCV002411797 RCV002339677 RCV002402717 RCV002379881 RCV002259099 RCV005306373	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of breast	Pathogenic; Likely pathogenic	rs2106038518, rs587780024, rs587781948, rs587782504, rs730881411, rs758972589, rs864622223, rs876659572, rs587780033, rs1057517589, rs1482641121, rs879253880, rs1064793049, rs1692211675, rs1693089932, rs1693042024	RCV001357314 RCV001535495 RCV001355804 RCV002509242 RCV001293502 RCV002281980 RCV001824683 RCV001328328 RCV003479516 RCV001354884 RCV003155286 RCV001844259 RCV001535654 RCV005236656 RCV005236655 RCV005057103	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of esophagus	Likely pathogenic; Pathogenic	rs377153250	RCV005895028	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple myeloma	Likely pathogenic	rs1574706907	RCV000984124	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian neoplasm	Likely pathogenic	rs1559423185	RCV000785391	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Triple-Negative Breast Cancer Finding	Pathogenic; Likely pathogenic	rs587780021, rs587781948	RCV000678225 RCV000678227	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATROPHIC MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of colon	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial adenomatous polyposis 2	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial ovarian cancer	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar ClinGen	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial pancreatic carcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	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	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of thyroid gland	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasm	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	18089818		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	25657202	Associate	★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	25657202		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	25657202		★☆☆☆☆ Found in Text Mining only
bilateral breast cancer	Breast Cancer	BEFREE	29988077		★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	CLINGEN_DG	11278247, 11779501, 11925436, 12832489, 17081976, 18443292, 20842729, 26350354, 26720728, 28418444, 28649662		★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	14550946, 16333312, 17972171, 22544576, 31036035		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11156388, 11278247, 12183411, 12438698, 14550946, 15218362, 16333312, 16403807, 16633366, 16768547, 16825437, 16957774, 17028982, 17333333, 17510055, 17972171, 18481171, 19197335, 19887602, 19959210, 20077502, 20842729, 21344236, 21393566, 21531767, 21809034, 22544576, 23966609, 24349422, 24948741, 25690937, 26022179, 26395808, 26757417, 27477900, 28139868, 28418444, 28506208, 29093764, 29593331, 29686231, 30099541, 30383767, 30521417, 30925164, 30933323, 31036035, 31808361, 8944023, 9832560		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Carcinoma	Breast Carcinoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Carcinoma	Breast Carcinoma	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Diseases	Breast disease	Pubtator	36315097	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	11278247, 15367667, 16061562, 16672066, 16768547, 16825437, 16957774, 17510055, 21344236, 25428789, 25452441, 25634209, 25740706, 26534844, 26787654, 28262780, 28418444, 28891274, 29367421, 30071039, 30099541, 30521417, 30933323, 30947698, 31036035, 31371347, 31808361, 31871109, 32318955, 33146377, 33471974, 33471991, 33498765, 33560870, 34196900, 34672684, 34793666, 34857041, 34977446, 35084436, 35084806, 35280675, 35468796, 35595798, 36162851, 36162852, 36521553, 36604691, 37096751, 39226054, 39684352, 40508121, 9645467	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	32091585	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	39261728	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	33629311	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	30089731	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28794477	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16152612, 28786985		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	28726808	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	11807980, 16061562, 16825437, 17556008, 18089818, 19959210, 21344236, 25994375, 26315354, 26329992, 26718727, 28139868, 28786985, 31036035, 31341520		★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	16957774	Associate	★☆☆☆☆ Found in Text Mining only
Clear cell adenocarcinoma of ovary	Ovarian adenocarcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21693656, 27197561		★☆☆☆☆ Found in Text Mining only
Colorectal cancer, hereditary nonpolyposis, type 1	Colorectal Cancer	CLINGEN_DG	11498787, 22814582, 25058500, 27197561		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21693656, 22814582, 25058500, 27197561, 31371347, 35567913	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	11807980, 16333312		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fallopian Tube Carcinoma	Fallopian Tube Carcinoma	BEFREE	28139868		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37727789	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	11278247, 14638690, 15632137, 16061562, 16618730, 16825437, 17510055, 21344236, 22863316, 24349422, 24549055, 24755837, 26350354, 29367421, 29988077, 30306255, 31036035, 33498765, 34824355, 37563628	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	ORPHANET_DG	15342711		★☆☆☆☆ 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	CLINVAR_DG	20077502, 21344236, 25330149, 25980754, 25994375, 26010302, 26075229, 26315354, 26483394, 28050010, 28174632, 29292755		★☆☆☆☆ Found in Text Mining only
Hereditary Malignant Neoplasm	Hereditary cancer	BEFREE	17333333		★☆☆☆☆ Found in Text Mining only
Hereditary Non-Polyposis Colon Cancer Type 2	Colorectal Cancer	CLINGEN_DG	11498787, 22814582, 25058500, 27197561		★☆☆☆☆ Found in Text Mining only
Hereditary non-polyposis colorectal cancer syndrome	Hereditary nonpolyposis colorectal cancer	CLINGEN_DG	11498787, 22814582, 25058500, 27197561		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	CLINGEN_DG	11498787, 22814582, 25058500, 27197561		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	CLINGEN_DG	11498787, 22814582, 25058500, 27197561		★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	27977889	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	28161399	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	11779501		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	24349422	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	24349422		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28794477		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	27492607	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28794477	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11156388, 11278247, 12183411, 12438698, 14550946, 15218362, 16333312, 16403807, 16633366, 16768547, 16825437, 16957774, 17028982, 17333333, 17497650, 17510055, 17972171, 18481171, 19197335, 19887602, 19959210, 20077502, 20842729, 21344236, 21393566, 21531767, 21809034, 22544576, 23966609, 24349422, 24948741, 25690937, 26010302, 26022179, 26395808, 26757417, 27477900, 28139868, 28418444, 28506208, 29093764, 29593331, 29686231, 30099541, 30383767, 30521417, 30925164, 30933323, 31036035, 31808361, 8944023, 9832560		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CLINVAR_DG	11943588, 17550235, 17848578, 20077502, 21344236, 24549055, 25428789, 25452441, 25503501, 26315354, 26534844, 26546047, 26556299, 26681312, 26738429, 26786923, 27433846		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16152612, 28786985		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	11807980, 15632137, 16061562, 16152612, 16825437, 17556008, 18089818, 19959210, 21344236, 24240112, 25994375, 26315354, 26329992, 26718727, 28139868, 28786985, 31036035, 31341520		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16061562, 16825437, 17848578, 18089818, 20077502, 21344236, 21393566, 21693656, 24441040, 26738429, 27009842, 27502904, 29292755, 29858377, 30772928, 31270457		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21693656, 27197561		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15218362, 15342711, 16825437, 17333333		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	16061562		★☆☆☆☆ 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
Melanoma	Melanoma	Pubtator	33672422	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	GWASDB_DG	20512145		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	35616619	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11779501, 12183411, 15166217, 15218362, 15632137, 16152612, 16333312, 16633366, 17028982, 17497650, 17556008, 17848578, 18089818, 18493658, 20842729, 21693656, 21815143, 24289923, 24349422, 26022179, 26395808, 26490435, 27502904, 28030839, 28161399, 28564596, 28976962, 29292755, 30132831, 30244837, 30521417, 30772928, 30925164, 31258718, 8944023, 9425226		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	14578343, 15040442, 15782130, 17550235, 18480049, 18842000, 20077502, 21344236, 22006311, 23334666, 24549055, 25330149, 25428789, 25452441, 25503501, 25980754, 25994375, 26010302, 26315354, 26681312, 26786923, 27083178, 28008555, 28152038, 28174632, 28281021, 28709830, 28724667		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	28161399		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19412175, 21436895, 22328350, 22350409, 23222812, 24293394, 26941572, 27009842, 28467792, 29292755, 30132831, 31480262		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	GWASCAT_DG	19412175, 21124317, 22941191, 28924153		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	CTD_human_DG	19412175, 23334666		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	GWASDB_DG	19412175, 21124317, 22941191		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	Pubtator	19412175, 21436895, 22328350, 23222812, 24293394, 25312269, 26941572, 27009842, 28161399, 28467792, 30793172, 31480262, 33384420, 35131881, 35768791, 37688570, 37688579	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21815143		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	29686231		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30045149		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	26718727		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	11807980, 16061562, 16825437, 17556008, 18089818, 19959210, 21344236, 25994375, 26315354, 26329992, 28139868, 28786985, 31036035, 31341520, 9425226		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ovarian neoplasm	Ovarian neoplasm	LHGDN	11807980, 16061562, 16152612		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ovarian neoplasm	Ovarian neoplasm	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ovarian neoplasm	Ovarian neoplasm	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	12732733, 15886201, 16061562, 18480049, 19584272, 24240112, 26315354, 26718727, 28564596, 33560870, 34528705, 34740923	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24289923	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26483394	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	33146377, 34793666	Associate	★☆☆☆☆ Found in Text Mining only
Primary peritoneal carcinoma	Peritoneal Carcinoma	BEFREE	28139868		★☆☆☆☆ Found in Text Mining only
Primary peritoneal carcinoma	Peritoneal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37733366	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	26415510		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	36187937	Associate	★☆☆☆☆ Found in Text Mining only
Specific Language Disorder	Specific language disorder	Pubtator	17392432	Associate	★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	17028982		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25452441, 25690937, 28085182, 29988077, 31371347, 33471974, 35084436	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26010302, 26294743, 29988077		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37474724	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cancer	Endometrial Cancer	BEFREE	16152612, 9425226		★☆☆☆☆ Found in Text Mining only
Uterine Cancer	Endometrial Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	16061562	Associate	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	28161399	Associate	★☆☆☆☆ Found in Text Mining only