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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4436
Gene name	MutS homolog 2
Gene symbol	MSH2
Synonyms (NCBI Gene)	COCA1FCC1HNPCCHNPCC1LCFS2LYNCH1MMRCS2MSH-2hMSH2
Chromosome	2
Chromosome location	2p21-p16.3
Summary	This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RE

854

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SNP ID	Visualize variation	Clinical significance	Consequence
rs11309117	AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAA	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs12476364	G>A,C,T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs17217716	C>G,T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs17217723	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs17217772	A>C,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Coding sequence variant, missense variant, non coding transcript variant
rs28929483	C>A,G,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs28929484	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs33946261	C>G,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, intron variant, synonymous variant, non coding transcript variant
rs34136999	C>T	Likely-benign, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs34986638	G>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs41295286	G>A,C	Likely-benign, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs41295288	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs41295296	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs55778204	A>G	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs63749802	G>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63749811	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63749814	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63749830	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63749831	AAT>-	Pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs63749832	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63749841	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs63749846	T>A,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant, non coding transcript variant
rs63749848	AG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63749849	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63749850	->CA	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63749852	->A	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63749854	G>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63749872	TT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63749878	->A	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63749897	AA>-,A,AAA	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63749902	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63749910	T>C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs63749913	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63749914	T>A,C	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant, non coding transcript variant
rs63749915	A>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63749917	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63749920	A>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63749929	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63749930	CA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63749932	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63749945	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63749947	G>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63749949	T>C,G	Likely-benign, pathogenic	Coding sequence variant, stop gained, synonymous variant, non coding transcript variant
rs63749963	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63749975	TG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63749983	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63749984	G>C,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63749991	C>A,G,T	Pathogenic	Coding sequence variant, stop gained, missense variant, non coding transcript variant
rs63749993	T>C,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs63750006	C>A,G,T	Benign, likely-benign, pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63750008	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750027	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs63750037	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63750039	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750042	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63750046	->AGCAGTCA	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750047	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63750058	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant, non coding transcript variant
rs63750060	CA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750068	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750069	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750070	T>C,G	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs63750078	G>C,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63750084	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs63750086	AG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750087	G>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs63750088	TGAGGCTCT>-	Pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs63750091	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750094	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750097	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63750103	G>-	Pathogenic	Coding sequence variant, splice acceptor variant, non coding transcript variant
rs63750104	->G	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750107	->G	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750113	GACA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750124	T>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant, synonymous variant, non coding transcript variant
rs63750126	T>A,C,G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs63750132	T>C,G	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, synonymous variant, non coding transcript variant
rs63750149	->A	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750160	G>-,GG,GGG	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, stop gained, 5 prime UTR variant
rs63750161	GA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750199	G>-	Pathogenic	Coding sequence variant, frameshift variant, initiator codon variant, non coding transcript variant
rs63750200	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63750203	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63750210	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750214	T>A,C,G	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs63750224	C>A,G,T	Likely-benign, pathogenic	Coding sequence variant, stop gained, synonymous variant, non coding transcript variant
rs63750232	G>A,C,T	Pathogenic-likely-pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs63750233	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750234	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs63750245	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63750255	G>C	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs63750267	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63750276	G>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63750280	C>A,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs63750291	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63750302	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63750312	T>C,G	Pathogenic	Coding sequence variant, stop gained, synonymous variant, non coding transcript variant
rs63750318	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63750328	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63750329	AGTG>TT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750330	T>A,C	Likely-benign, pathogenic, benign, uncertain-significance, benign-likely-benign	Coding sequence variant, stop gained, synonymous variant, non coding transcript variant
rs63750334	GA>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs63750337	C>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs63750346	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750347	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63750352	->G	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs63750362	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750364	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750382	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63750384	G>-	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63750393	GA>-,GAGA	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750396	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63750398	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs63750401	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750403	T>G	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63750406	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750408	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750426	TT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750458	T>G	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63750463	->A	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750466	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs63750468	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs63750474	AAACA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750488	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63750493	C>G	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63750495	TG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750496	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750501	ATTG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750502	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63750508	C>G,T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63750516	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750521	T>C,G	Pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63750545	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750551	AA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750558	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63750571	A>C,G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63750572	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750574	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63750582	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs63750583	GC>CT	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63750586	->A	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750589	->A	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs63750597	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs63750611	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63750614	->G	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs63750615	G>T	Pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant
rs63750618	C>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63750623	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63750624	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs63750630	T>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs63750633	T>-	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63750636	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63750640	T>C,G	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs63750644	G>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs63750657	G>A,C,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs63750662	->GA	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750675	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750682	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750684	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs63750689	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750690	GGACC>TTA	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750697	T>A,C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs63750701	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750703	AA>-,AAA	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750704	CA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750712	CT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750722	AGGA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750728	ACCACAGTGC>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs63750737	AA>-,A	Pathogenic	Coding sequence variant, frameshift variant, stop gained, non coding transcript variant
rs63750738	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750778	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63750780	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63750786	->G	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750803	->T,TT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750806	->GT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750807	->A	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750808	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs63750828	G>A,T	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs63750843	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63750844	T>C,G	Likely-benign, pathogenic	Coding sequence variant, stop gained, synonymous variant, non coding transcript variant
rs63750845	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750849	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant, non coding transcript variant
rs63750857	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63750872	T>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63750875	G>A,C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs63750881	A>C,G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63750885	->AT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750893	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750894	T>A,C,G	Likely-benign, pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, intron variant, stop gained
rs63750896	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750902	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs63750910	C>A,G	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63750924	TC>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750933	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750934	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63750936	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63750937	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750951	C>G,T	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant, stop gained, 5 prime UTR variant
rs63750957	AG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750960	GAAG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750961	T>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs63750970	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63750984	G>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs63750986	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63750995	->A	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751004	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs63751007	C>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs63751013	TACA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751018	T>C,G	Pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63751027	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63751036	TA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751044	CA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751056	T>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs63751059	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751065	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs63751079	->G	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751099	C>A,T	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant, intron variant, stop gained
rs63751105	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant, non coding transcript variant
rs63751108	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63751110	T>C,G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs63751115	TT>-,T	Pathogenic	Coding sequence variant, frameshift variant, stop gained, non coding transcript variant
rs63751117	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751119	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs63751120	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751123	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751129	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751133	GT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751140	G>A,C,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs63751142	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751143	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751147	T>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs63751149	A>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63751155	C>A,G,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant, non coding transcript variant
rs63751156	CATT>-	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63751158	->T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63751159	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751160	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751161	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751169	->G	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751192	->CGAC	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751195	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751206	CCTA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751207	G>A,C,T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs63751212	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs63751219	->TA	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751226	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63751227	AT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751246	G>A,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant, stop gained
rs63751260	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs63751271	C>A,G	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63751274	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63751288	TTAT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751290	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751298	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63751299	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751315	T>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant, non coding transcript variant
rs63751317	C>A,G,T	Likely-benign, pathogenic	Coding sequence variant, stop gained, synonymous variant, non coding transcript variant
rs63751326	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63751403	C>G,T	Likely-benign, uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant, non coding transcript variant
rs63751411	G>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63751412	C>A,G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63751413	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751426	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63751429	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs63751432	G>A,T	Uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs63751444	T>C,G	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs63751447	TAATTTC>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751449	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751453	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751454	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs63751469	C>A,T	Pathogenic	Coding sequence variant, missense variant, intron variant, stop gained
rs63751477	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63751482	CACGGCGAGGACGCGCTGCTGGCCGCCCG>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs63751483	->TT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751602	TTCAA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751604	G>A,C,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs63751614	AT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751617	A>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs63751618	AG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751621	TG>-	Pathogenic	Coding sequence variant, stop gained, inframe indel, non coding transcript variant
rs63751622	TG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751624	G>A,C	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant, synonymous variant, non coding transcript variant
rs63751626	->G	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751640	G>A,C,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs63751646	A>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63751650	A>G	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs63751656	A>C,G,T	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs63751667	AAAAA>AAAAAA,GAAAAG	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751668	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs63751693	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs63751695	ACAG>-	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs63751700	AT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs63751712	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs80285180	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs141711342	T>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs145649774	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs146567853	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs151129360	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs151244108	C>A,G,T	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, stop gained, coding sequence variant
rs189025757	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs193922372	GCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGT>-	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, intron variant, splice acceptor variant
rs193922374	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs193922375	->G	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs193922376	A>G,T	Likely-pathogenic, pathogenic, uncertain-significance	Intron variant
rs200147804	A>C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs200252727	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs201118107	A>C,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs201298777	A>G	Likely-benign, benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs202145681	G>A,T	Likely-benign, benign, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs202215396	G>A,C,T	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs267607689	G>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs267607691	->CT	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs267607693	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs267607694	T>-,TT	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, stop gained
rs267607696	->GG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs267607911	A>C,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Initiator codon variant, non coding transcript variant, intron variant, missense variant
rs267607914	G>A,T	Likely-pathogenic, pathogenic, uncertain-significance	Splice acceptor variant
rs267607915	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs267607916	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs267607917	A>G	Likely-pathogenic	Splice acceptor variant
rs267607920	TT>-,TTT	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs267607921	TG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs267607924	G>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs267607925	G>A,T	Likely-pathogenic	Splice acceptor variant
rs267607928	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs267607929	TAGATAATTCAA>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, splice acceptor variant
rs267607930	T>C,G	Uncertain-significance, likely-pathogenic, pathogenic, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs267607931	GAAT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs267607933	A>C	Likely-pathogenic	Splice acceptor variant
rs267607934	G>A	Pathogenic	Splice donor variant
rs267607937	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs267607939	C>A,G,T	Likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs267607940	G>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs267607943	A>C,G,T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs267607944	G>C,T	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Splice acceptor variant
rs267607948	G>A,C	Likely-pathogenic	Splice acceptor variant
rs267607949	A>C,G,T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs267607950	G>A,C,T	Likely-pathogenic, pathogenic, not-provided, pathogenic-likely-pathogenic	Splice donor variant
rs267607953	T>A,C	Likely-pathogenic, pathogenic	Splice donor variant
rs267607954	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs267607955	AAGT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs267607956	G>T	Likely-pathogenic	Splice acceptor variant
rs267607957	G>A,C,T	Likely-pathogenic, pathogenic	Splice donor variant
rs267607961	GAGAA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs267607962	A>G	Pathogenic	Splice acceptor variant
rs267607964	G>A,T	Pathogenic-likely-pathogenic	Splice acceptor variant
rs267607969	G>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs267607970	G>A	Pathogenic	Splice acceptor variant
rs267607971	A>G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs267607972	G>A,C,T	Likely-pathogenic, pathogenic, uncertain-significance	Intron variant
rs267607974	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs267607976	T>A,C	Likely-pathogenic, pathogenic	Splice donor variant
rs267607977	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs267607978	TGT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs267607979	G>A,C,T	Likely-pathogenic, pathogenic, not-provided	Splice acceptor variant
rs267607982	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs267607983	C>A,G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs267607984	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs267607985	A>C,G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs267607986	G>A,C,T	Likely-pathogenic, pathogenic	Splice donor variant
rs267607987	T>C	Pathogenic	Splice donor variant
rs267607988	G>C,T	Likely-pathogenic, pathogenic, uncertain-significance	Splice acceptor variant
rs267607990	T>A,C	Pathogenic, likely-benign	Intron variant
rs267607991	A>G	Likely-pathogenic	Splice acceptor variant
rs267607994	C>T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs267607995	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs267607996	G>A,C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs267608000	GT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs267608001	A>C,G,T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs267608002	G>A,C,T	Likely-pathogenic, pathogenic	Splice donor variant
rs267608003	C>A,G,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs267608006	T>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs267608009	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs267608010	G>A,T	Likely-pathogenic, pathogenic-likely-pathogenic	Splice donor variant
rs267608011	A>C,G	Pathogenic	Splice acceptor variant
rs267608012	A>C,G	Likely-pathogenic, likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs267608016	T>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs267608017	G>C,T	Likely-pathogenic, pathogenic	Intron variant
rs267608018	T>C	Likely-pathogenic	Intron variant
rs267608019	G>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs267608020	G>A,C,T	Likely-pathogenic, pathogenic, uncertain-significance	Intron variant, splice acceptor variant
rs267608022	C>G,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs281864944	AA>-,A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs368596736	T>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs369670665	T>C,G	Pathogenic, likely-benign	Synonymous variant, stop gained, non coding transcript variant, coding sequence variant
rs369853630	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs370807334	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs370970617	C>G,T	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs371614039	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs371776176	G>A,C,T	Pathogenic, uncertain-significance	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs372350768	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Synonymous variant, non coding transcript variant, coding sequence variant, missense variant
rs373226409	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs375561490	G>A,C,T	Pathogenic, uncertain-significance	Stop gained, non coding transcript variant, intron variant, missense variant, coding sequence variant
rs376796243	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs377345366	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs377403073	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs530814648	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs541623924	->T	Likely-pathogenic, uncertain-significance	Splice donor variant
rs549467183	G>A	Uncertain-significance, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs551060742	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Stop gained, intron variant, coding sequence variant
rs587779063	A>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs587779064	C>-,CC	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779065	G>A,C,T	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs587779067	C>G,T	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587779068	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779070	A>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs587779073	G>-	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs587779075	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs587779076	CT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779079	GTTAT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779082	CTC>-	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Inframe deletion, non coding transcript variant, coding sequence variant
rs587779083	CT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779084	T>C	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs587779087	T>A,C	Pathogenic, not-provided, likely-benign, uncertain-significance	Intron variant
rs587779088	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779089	G>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs587779091	->TC	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779092	A>G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs587779093	T>A,C	Pathogenic, uncertain-significance	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs587779094	->C	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779097	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs587779101	T>C,G	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs587779102	G>A,C,T	Pathogenic, uncertain-significance	Intron variant, missense variant, stop gained, non coding transcript variant, coding sequence variant
rs587779103	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779104	A>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs587779105	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779106	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779108	G>A,C,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Splice donor variant
rs587779110	G>A	Pathogenic-likely-pathogenic, likely-pathogenic	Splice acceptor variant
rs587779111	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779112	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779114	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779117	GT>-	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs587779118	->ACTT	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779119	TA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779120	AACA>-	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779121	CA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779122	GA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779123	TAAAAAACCTG>-	Likely-pathogenic	Splice donor variant, intron variant
rs587779124	T>-	Likely-pathogenic	Splice donor variant
rs587779125	AAAAAACCTGGT>-	Likely-pathogenic, uncertain-significance	Intron variant, splice donor variant, coding sequence variant, non coding transcript variant
rs587779127	T>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587779129	AT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779131	TG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779133	T>C	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs587779135	GGGTGTTT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779136	C>G,T	Pathogenic, uncertain-significance	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs587779138	T>G	Pathogenic	Intron variant
rs587779139	C>G,T	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs587779140	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779143	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs587779144	->C	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779145	A>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs587779146	->CATGTTGCAGAGCT	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779147	AA>A,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, frameshift variant
rs587779148	AG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779149	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779151	ATCAT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779152	T>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs587779153	C>G,T	Likely-pathogenic	Intron variant
rs587779157	GAAGTT>-	Likely-pathogenic, uncertain-significance	Inframe deletion, non coding transcript variant, coding sequence variant
rs587779159	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779163	T>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587779164	TG>-	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, inframe indel
rs587779165	CTC>-	Pathogenic, likely-pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs587779166	G>A,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs587779167	T>A	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs587779168	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs587779169	A>G	Likely-pathogenic	Splice acceptor variant
rs587779170	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs587779172	AGAAA>TAAT	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779173	A>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs587779174	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779175	->A	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs587779176	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779177	->C	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs587779179	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779181	->CT	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779182	TG>-	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, upstream transcript variant
rs587779185	TCTG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779188	G>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs587779189	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779190	G>C,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs587779191	GACT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779192	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779193	G>A,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Splice donor variant
rs587779194	T>-	Likely-pathogenic	Splice donor variant
rs587779195	T>A,C,G	Pathogenic, likely-pathogenic	Splice donor variant
rs587779197	G>A,T	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, synonymous variant, coding sequence variant
rs587779198	A>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs587779964	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587779969	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant, missense variant, coding sequence variant
rs587779976	C>G,T	Pathogenic, uncertain-significance	Intron variant, missense variant, stop gained, non coding transcript variant, coding sequence variant
rs587779979	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587781314	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs587781627	A>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs587781678	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs587781795	G>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs587781996	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs587782278	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs587782408	T>C,G	Likely-pathogenic	Splice donor variant
rs587782537	GAAA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587782561	->TTCT	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs587782659	G>A,C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587782777	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587783053	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587783055	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs730881755	T>C,G	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs730881758	A>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs730881762	C>G,T	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs730881774	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs730881775	->A	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs730881776	ATGC>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs730881783	A>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs730881784	C>A,G,T	Pathogenic, benign-likely-benign, likely-benign	Synonymous variant, 5 prime UTR variant, stop gained, non coding transcript variant, coding sequence variant
rs747700106	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs748554540	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs749660228	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs752606387	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs753075410	T>A,C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs755501968	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs755583143	TAAAA>-	Likely-pathogenic	Splice donor variant, intron variant
rs759263820	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs763872353	T>A,C	Pathogenic, likely-benign	Synonymous variant, coding sequence variant, stop gained, non coding transcript variant
rs770110491	A>G,T	Pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs771255106	A>G,T	Pathogenic	5 prime UTR variant, missense variant, stop gained, coding sequence variant, non coding transcript variant
rs772491283	G>A,C	Pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs775464903	A>G,T	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs786201066	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs786201590	T>G	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs786201822	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs786202037	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs786202083	G>A,C,T	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs786202790	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs786202843	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs786203036	T>A,G	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs786203350	->AT	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs786203424	T>A,G	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs786203604	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs786203704	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs786204050	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs786204082	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs786204144	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs786204319	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs786204321	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs796532309	T>-,TT	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs863224481	CGAGGACGCGCTGC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs863224833	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs863225385	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs863225386	A>C,T	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs863225387	C>G,T	Likely-pathogenic, pathogenic, uncertain-significance	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs863225388	TATACAGGCTCTGGAAAA>AGTT	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs863225389	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs863225390	A>-,AA	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs863225391	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs863225392	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs863225393	->TA	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs863225394	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs863225395	C>G	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs863225396	G>A,T	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs863225397	G>A	Likely-pathogenic, pathogenic-likely-pathogenic	Splice acceptor variant
rs864622093	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs864622121	GT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs864622183	G>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs864622261	AAT>TG	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs864622340	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs864622436	TTCGATTTGCAGCAAATTGACTTCTTTA>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant, non coding transcript variant, intron variant
rs869312768	->TT	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs869312796	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, synonymous variant
rs876657701	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs876658187	G>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs876658211	->A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Frameshift variant, coding sequence variant, intron variant
rs876658223	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs876658834	TT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs876658918	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs876658940	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs876658996	T>A,C,G	Likely-pathogenic, pathogenic	Splice donor variant
rs876659961	T>CA	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs876660297	G>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs876660480	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs876660533	GGAGCAAAGAA>CAC	Pathogenic	Splice acceptor variant, coding sequence variant, non coding transcript variant
rs876660546	T>C,G	Pathogenic	Splice donor variant
rs876660655	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs878853797	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, stop gained, intron variant, non coding transcript variant, missense variant
rs878853802	CCTTGTA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs878853809	GTCA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs878853815	G>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs878853824	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs879253899	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs879254025	TATTTGG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs879254104	T>G	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs879254204	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs879254234	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs886041613	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs890172773	G>A,C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant, intron variant
rs905179122	C>G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs937218360	T>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Synonymous variant, missense variant, non coding transcript variant, coding sequence variant
rs979212552	C>G,T	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs1057517762	TCTTAACCGA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057520735	C>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained, non coding transcript variant
rs1057524910	GAAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1060501989	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1060501991	G>A,C	Likely-pathogenic	Splice acceptor variant
rs1060501993	T>C	Likely-pathogenic	Splice donor variant
rs1060501994	G>A,C,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained, non coding transcript variant
rs1060502000	GCCG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, intron variant
rs1060502001	A>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, intron variant
rs1060502023	T>C	Likely-pathogenic, pathogenic	Splice donor variant
rs1060502027	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1060502029	GAAG>AAA	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1060502032	G>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1060502035	->T,TT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1060502039	T>-	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1060504409	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs1064792951	TGAAAAAATTATTCAGG>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1064793561	ACTT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1064793863	->TGTACCGCAGATT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1064794071	TTGACTT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1064794155	G>-	Likely-pathogenic, pathogenic	Splice donor variant, coding sequence variant, non coding transcript variant
rs1064794809	C>-	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1064795063	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained, non coding transcript variant
rs1064795127	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1064795264	CGCGGCCGAG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, intron variant
rs1064795329	AGGCTATGTAGAACCAATGCAGACAC>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant, non coding transcript variant, intron variant
rs1064795653	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1085308057	A>G	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs1114167805	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167806	ATGA>-,ATGAATGA	Pathogenic	Non coding transcript variant, frameshift variant, inframe indel, coding sequence variant, stop gained
rs1114167807	TTTATCA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167808	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167809	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167810	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167811	T>G	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1114167812	CC>-,C	Pathogenic	Frameshift variant, coding sequence variant, stop gained, non coding transcript variant
rs1114167813	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167814	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167815	->A	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167816	G>C,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained, non coding transcript variant
rs1114167817	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167818	A>C,G,T	Likely-pathogenic, uncertain-significance	Splice acceptor variant, intron variant
rs1114167820	AGAAAAAGTCC>T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167821	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167823	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167824	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167825	CCAC>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167826	ATAA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167828	GT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167829	A>CGG	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167830	->A	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167831	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167832	->TACCA	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167833	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167835	AA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167836	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167837	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167839	T>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1114167841	TTATA>-	Likely-pathogenic, pathogenic	Splice acceptor variant, intron variant
rs1114167844	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167845	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained, non coding transcript variant
rs1114167848	ACTGA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167850	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167851	ATAGATAATTCAAA>-	Pathogenic	Splice acceptor variant, coding sequence variant, non coding transcript variant, intron variant
rs1114167852	G>A	Likely-pathogenic	Splice donor variant
rs1114167853	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167854	C>G	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1114167855	->GC	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167856	GC>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167857	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1114167858	->AG	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167860	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167862	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167863	AAGAATCTGCA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167864	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167866	G>C,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained, non coding transcript variant
rs1114167867	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167870	T>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1114167872	GC>T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167874	T>-	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1114167876	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167877	GTGTGAAT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167879	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167880	A>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1114167882	GTTGA>TTTC	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167883	G>T	Pathogenic	Splice donor variant
rs1114167884	TG>A	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167885	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1114167888	G>C	Pathogenic	Splice acceptor variant
rs1114167890	GG>TA	Likely-pathogenic	Splice donor variant, coding sequence variant, non coding transcript variant
rs1131692279	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1194793421	G>-	Likely-pathogenic	Coding sequence variant, splice donor variant, non coding transcript variant
rs1230083633	G>A,C,T	Pathogenic, uncertain-significance	Missense variant, stop gained, intron variant, coding sequence variant
rs1278858560	T>C	Likely-pathogenic	Splice donor variant
rs1553348668	->G	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553348760	C>-	Pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553348794	C>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553348842	->G	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553348882	A>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553348896	->C	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553348898	->TC	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553348901	GGCAGGTGAGGGCCGGGACGGCGCGTGCTGGGGAGGGACCCGGGGCC>-	Likely-pathogenic	Splice donor variant, coding sequence variant, initiator codon variant, intron variant, non coding transcript variant
rs1553348904	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553350052	AGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGG>-	Pathogenic	Splice acceptor variant, splice donor variant, coding sequence variant, intron variant, non coding transcript variant
rs1553350126	->AAGATCTTCTTCTGGTTCGTCA	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553350167	TA>-	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, inframe indel
rs1553350250	T>G	Pathogenic, likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553350466	GGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAT	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, splice acceptor variant
rs1553350680	AT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553350721	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553350758	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553350787	->G	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553350789	->AGGAAACTAGGACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAGGCTCTCCTCATCCAGATTG	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, inframe indel
rs1553350946	->GAGA	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553350966	AT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553351549	GATA>-	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, splice acceptor variant
rs1553351651	->G	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553352366	TTTTAGGTTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTA	Pathogenic	Splice acceptor variant, splice donor variant, coding sequence variant, intron variant, non coding transcript variant
rs1553352462	ATGA>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553352474	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553352505	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553353114	ACTGGCTCTCAGTCTCTGGCTGCCTTGCTGAATAAGTGTAAAACCC>-	Pathogenic, likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553353167	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553353233	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553356484	->GAGCCACTGCGCCCAGCAGATTCAAGCTTTTTAAATGGAATTTTGAGCTGATTTAGTTGAGACTTACGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCA	Pathogenic	Splice acceptor variant, splice donor variant, coding sequence variant, intron variant, non coding transcript variant
rs1553356518	ATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCAGCAAACTTACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTAATGTTATACAGGCTCTGGAAAAACATGAAG>-	Pathogenic	Non coding transcript variant, coding sequence variant, splice acceptor variant
rs1553356594	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553356605	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553356643	GA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553356678	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553356700	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553356720	->ATGTTATACAG	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553361141	AAAACACCAGAAATTATTGTTGGCAGTTTTTGTGACTCCTCTTACTGATCTTCGTTCTGACTTCTCCAAGTTTCAGGAAATGATAGAAACAACTTTAGATATGGATCAGG>-	Pathogenic	Splice donor variant, non coding transcript variant, coding sequence variant, splice acceptor variant
rs1553361162	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553361231	TT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553361261	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553361274	A>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553361289	T>-	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553365711	A>-,AA	Pathogenic, likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553365719	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553365799	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553366510	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553366522	AAACTGGATT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553366545	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs1553366554	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553366561	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553366583	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553366642	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553366680	T>C	Likely-pathogenic	Splice donor variant
rs1553367587	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553367608	->GA	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553367635	CA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553367687	AA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553368518	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553368540	GTTAGCTCAG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553368570	->TGTTGTCA	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553368590	T>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553368675	ATTG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553368731	T>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant
rs1553368975	T>C,G	Uncertain-significance, likely-pathogenic	Intron variant
rs1553368988	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553369034	CTG>TT	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553369051	->GGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCAT	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, inframe indel
rs1553369089	T>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553369100	->G	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553369113	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553369131	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553369164	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553369165	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553369194	GAAATGTTGGAAACTGCT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, inframe deletion
rs1553369641	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553369665	AATTG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553369812	TG>CT	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553370310	AA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553370324	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553370366	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553370371	->T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553370381	->CA	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553370397	G>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553370404	C>G,T	Uncertain-significance, pathogenic	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs1553370431	->G	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553370435	->A	Pathogenic, likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553370443	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1558451119	AG>C	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1558457533	T>C	Pathogenic	Splice donor variant
rs1558458884	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1558459096	->GT	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1558459882	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1558459885	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1558461615	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1558461683	GA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1558464008	G>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs1558466434	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1558466577	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1558466685	CT>GC	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1558466769	->GG	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1558478567	TTAC>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1558508067	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1558508343	->TT	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1558508399	TAAGAATGGGTCATTGGAGGTTGGAATAATTCTTTTGTCTATACACTGT>-	Likely-pathogenic	Splice donor variant, intron variant
rs1558511051	A>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1558511191	A>G,T	Uncertain-significance, pathogenic	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs1558518449	ATGACGTA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1558518588	G>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1558518671	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1558519611	T>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1558521605	->GTAG	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, inframe insertion
rs1558521949	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1573423412	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs1573424223	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1573436369	TAAAATGAATTTTGAATCTTTTGTAAAAGAT>CTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG	Pathogenic	Coding sequence variant, non coding transcript variant, inframe indel, stop gained
rs1573436948	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573437173	T>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1573440880	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573441776	T>C,G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, synonymous variant
rs1573442039	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573442100	CA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573446614	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573446832	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573451108	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573451595	AC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573451662	TCAGC>ACTTTTTCAGTATATGACTACTTTTGACTACTTTTT	Pathogenic	Coding sequence variant, non coding transcript variant, inframe indel, stop gained
rs1573456772	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573484655	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573485191	GGGTATAAATCA>-	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, inframe deletion
rs1573519371	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573547745	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573548065	->TT	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573553178	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1573553636	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573560283	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573560572	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573566175	A>G	Likely-pathogenic	Splice acceptor variant
rs1573566217	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573566411	GTGTT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573566488	CAGCT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573566787	->TT	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573566819	ATAT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573567022	AT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573567132	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573567212	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573567340	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573567451	CT>AC	Pathogenic	Coding sequence variant, non coding transcript variant, inframe indel, stop gained
rs1573567537	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573567630	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573569948	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573570621	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573573619	->CAAA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573574024	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573574086	C>G,T	Likely-benign, pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, stop gained
rs1573574188	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573574436	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573578423	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573578439	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573579206	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1573582750	G>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant

Show/Hide all (83)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000880	hsa-miR-15a-5p	Microarray	18362358
MIRT000879	hsa-miR-16-5p	Microarray	18362358
MIRT000460	hsa-miR-155-5p	Luciferase reporter assayWestern blotNorthern blot	20351277
MIRT005429	hsa-miR-21-5p	Luciferase reporter assayNorthern blotqRT-PCRWestern blot	21078976
MIRT005429	hsa-miR-21-5p	Luciferase reporter assayNorthern blotqRT-PCRWestern blot	21078976
MIRT005429	hsa-miR-21-5p	Luciferase reporter assayqRT-PCRWestern blot	21047769
MIRT005429	hsa-miR-21-5p	Luciferase reporter assayqRT-PCRWestern blot	21047769
MIRT023691	hsa-miR-1-3p	Proteomics	18668040
MIRT027251	hsa-miR-101-3p	Sequencing	20371350
MIRT005429	hsa-miR-21-5p	Microarray	18591254
MIRT047085	hsa-miR-183-5p	CLASH	23622248
MIRT005429	hsa-miR-21-5p	ImmunoblotLuciferase reporter assay	23861444
MIRT005429	hsa-miR-21-5p	ImmunoblotLuciferase reporter assay	23861444
MIRT005429	hsa-miR-21-5p	Luciferase reporter assayqRT-PCRWestern blot	22806311
MIRT005429	hsa-miR-21-5p	Luciferase reporter assayqRT-PCRWestern blot	22806311
MIRT005429	hsa-miR-21-5p	Luciferase reporter assayqRT-PCRWestern blot	22806311
MIRT005429	hsa-miR-21-5p	Luciferase reporter assayqRT-PCRWestern blot	22806311
MIRT1161139	hsa-miR-1298	CLIP-seq
MIRT1161140	hsa-miR-132	CLIP-seq
MIRT1161141	hsa-miR-137	CLIP-seq
MIRT1161142	hsa-miR-1910	CLIP-seq
MIRT1161143	hsa-miR-205	CLIP-seq
MIRT1161144	hsa-miR-21	CLIP-seq
MIRT1161145	hsa-miR-212	CLIP-seq
MIRT1161146	hsa-miR-3065-3p	CLIP-seq
MIRT1161147	hsa-miR-338-5p	CLIP-seq
MIRT1161148	hsa-miR-4291	CLIP-seq
MIRT1161149	hsa-miR-4724-3p	CLIP-seq
MIRT1161150	hsa-miR-4774-3p	CLIP-seq
MIRT1161151	hsa-miR-4795-3p	CLIP-seq
MIRT1161152	hsa-miR-499-3p	CLIP-seq
MIRT1161153	hsa-miR-499a-3p	CLIP-seq
MIRT1161154	hsa-miR-518a-5p	CLIP-seq
MIRT1161155	hsa-miR-527	CLIP-seq
MIRT1161156	hsa-miR-548a-3p	CLIP-seq
MIRT1161157	hsa-miR-548e	CLIP-seq
MIRT1161158	hsa-miR-548f	CLIP-seq
MIRT1161159	hsa-miR-556-3p	CLIP-seq
MIRT1161160	hsa-miR-590-5p	CLIP-seq
MIRT1161161	hsa-miR-885-5p	CLIP-seq
MIRT1161162	hsa-miR-889	CLIP-seq
MIRT1161163	hsa-miR-935	CLIP-seq
MIRT1161140	hsa-miR-132	CLIP-seq
MIRT1161141	hsa-miR-137	CLIP-seq
MIRT1161142	hsa-miR-1910	CLIP-seq
MIRT1161145	hsa-miR-212	CLIP-seq
MIRT1161150	hsa-miR-4774-3p	CLIP-seq
MIRT1161151	hsa-miR-4795-3p	CLIP-seq
MIRT1161152	hsa-miR-499-3p	CLIP-seq
MIRT1161153	hsa-miR-499a-3p	CLIP-seq
MIRT1161154	hsa-miR-518a-5p	CLIP-seq
MIRT1161155	hsa-miR-527	CLIP-seq
MIRT1161163	hsa-miR-935	CLIP-seq
MIRT1161140	hsa-miR-132	CLIP-seq
MIRT1161141	hsa-miR-137	CLIP-seq
MIRT2275351	hsa-miR-141	CLIP-seq
MIRT1161142	hsa-miR-1910	CLIP-seq
MIRT2275352	hsa-miR-200a	CLIP-seq
MIRT1161145	hsa-miR-212	CLIP-seq
MIRT1161146	hsa-miR-3065-3p	CLIP-seq
MIRT2275353	hsa-miR-3148	CLIP-seq
MIRT2275354	hsa-miR-340	CLIP-seq
MIRT2275355	hsa-miR-3660	CLIP-seq
MIRT2275356	hsa-miR-3688-3p	CLIP-seq
MIRT2275357	hsa-miR-4282	CLIP-seq
MIRT1161148	hsa-miR-4291	CLIP-seq
MIRT2275358	hsa-miR-4526	CLIP-seq
MIRT2275359	hsa-miR-4645-3p	CLIP-seq
MIRT1161150	hsa-miR-4774-3p	CLIP-seq
MIRT1161151	hsa-miR-4795-3p	CLIP-seq
MIRT1161152	hsa-miR-499-3p	CLIP-seq
MIRT1161153	hsa-miR-499a-3p	CLIP-seq
MIRT1161154	hsa-miR-518a-5p	CLIP-seq
MIRT1161155	hsa-miR-527	CLIP-seq
MIRT1161162	hsa-miR-889	CLIP-seq
MIRT1161163	hsa-miR-935	CLIP-seq
MIRT2275351	hsa-miR-141	CLIP-seq
MIRT2275352	hsa-miR-200a	CLIP-seq
MIRT2275353	hsa-miR-3148	CLIP-seq
MIRT1161147	hsa-miR-338-5p	CLIP-seq
MIRT2275356	hsa-miR-3688-3p	CLIP-seq
MIRT2275359	hsa-miR-4645-3p	CLIP-seq
MIRT1161162	hsa-miR-889	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
DNMT1	Activation	16473673
MBD2	Unknown	15526354
NF1	Unknown	19639020

Show/Hide all (92)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IDA	16403449
GO:0000400	Function	Four-way junction DNA binding	IDA	12034830
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0001701	Process	In utero embryonic development	IEA
GO:0002204	Process	Somatic recombination of immunoglobulin genes involved in immune response	IBA
GO:0002204	Process	Somatic recombination of immunoglobulin genes involved in immune response	IEA
GO:0003677	Function	DNA binding	IDA	7923193
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IDA	26300262
GO:0003684	Function	Damaged DNA binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IDA	11809883
GO:0003697	Function	Single-stranded DNA binding	IDA	11809883
GO:0005515	Function	Protein binding	IPI	8942985, 9207118, 9774676, 9788596, 10856833, 11427529, 11429708, 12414623, 14657349, 14676842, 14706347, 15014079, 16025128, 16403449, 17715146, 18675275, 19377479, 19596235, 22179786, 25241761, 26221039, 26300262, 26496610, 32296183, 33961781, 34591612, 35271311
GO:0005524	Function	ATP binding	IDA	15105434
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	26300262
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0006119	Process	Oxidative phosphorylation	IEA
GO:0006281	Process	DNA repair	IDA	8942985
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006298	Process	Mismatch repair	IBA
GO:0006298	Process	Mismatch repair	IDA	11555625
GO:0006298	Process	Mismatch repair	IDA	7923193, 9677427, 17715146
GO:0006298	Process	Mismatch repair	IEA
GO:0006298	Process	Mismatch repair	IEA
GO:0006298	Process	Mismatch repair	IGI	23603115
GO:0006301	Process	Postreplication repair	IDA	7923193
GO:0006301	Process	Postreplication repair	IEA
GO:0006302	Process	Double-strand break repair	IEA
GO:0006312	Process	Mitotic recombination	IBA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007281	Process	Germ cell development	IEA
GO:0008047	Function	Enzyme activator activity	IDA	17715146
GO:0008094	Function	ATP-dependent activity, acting on DNA	IDA	16403449
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0008584	Process	Male gonad development	ISS
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IEA
GO:0010165	Process	Response to X-ray	IEA
GO:0010165	Process	Response to X-ray	ISS
GO:0010224	Process	Response to UV-B	IEA
GO:0010224	Process	Response to UV-B	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016446	Process	Somatic hypermutation of immunoglobulin genes	IEA
GO:0016447	Process	Somatic recombination of immunoglobulin gene segments	IEA
GO:0016447	Process	Somatic recombination of immunoglobulin gene segments	ISS
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019237	Function	Centromeric DNA binding	IEA
GO:0019724	Process	B cell mediated immunity	IEA
GO:0019724	Process	B cell mediated immunity	ISS
GO:0030183	Process	B cell differentiation	IEA
GO:0030183	Process	B cell differentiation	ISS
GO:0030983	Function	Mismatched DNA binding	IDA	8942985, 11756455, 11801590
GO:0030983	Function	Mismatched DNA binding	IEA
GO:0031573	Process	Mitotic intra-S DNA damage checkpoint signaling	IEA
GO:0032137	Function	Guanine/thymine mispair binding	IDA	8942985, 11809883
GO:0032137	Function	Guanine/thymine mispair binding	IEA
GO:0032137	Function	Guanine/thymine mispair binding	IMP	16713580
GO:0032139	Function	Dinucleotide insertion or deletion binding	IDA	8942985
GO:0032142	Function	Single guanine insertion binding	IDA	8942985
GO:0032143	Function	Single thymine insertion binding	IDA	8942985
GO:0032181	Function	Dinucleotide repeat insertion binding	IDA	8942985
GO:0032301	Component	MutSalpha complex	IBA
GO:0032301	Component	MutSalpha complex	IDA	8942985, 23622243
GO:0032301	Component	MutSalpha complex	IEA
GO:0032301	Component	MutSalpha complex	IPI	17531815
GO:0032302	Component	MutSbeta complex	IDA	8942985
GO:0032302	Component	MutSbeta complex	IPI	22179786
GO:0032357	Function	Oxidized purine DNA binding	IDA	11756455, 11801590
GO:0032405	Function	MutLalpha complex binding	IDA	16403449
GO:0042771	Process	Intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	8942985
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	ISS
GO:0043531	Function	ADP binding	IDA	15105434
GO:0043570	Process	Maintenance of DNA repeat elements	IMP	16388310
GO:0045190	Process	Isotype switching	IEA
GO:0045190	Process	Isotype switching	ISS
GO:0045910	Process	Negative regulation of DNA recombination	IDA	17715146
GO:0045910	Process	Negative regulation of DNA recombination	IEA
GO:0045910	Process	Negative regulation of DNA recombination	ISS
GO:0048298	Process	Positive regulation of isotype switching to IgA isotypes	IEA
GO:0048304	Process	Positive regulation of isotype switching to IgG isotypes	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0140664	Function	ATP-dependent DNA damage sensor activity	IEA

MIM	HGNC	e!Ensembl
609309	7325	ENSG00000095002

P43246

Protein name

DNA mismatch repair protein Msh2 (hMSH2) (MutS protein homolog 2)

Protein function

Component of the post-replicative DNA mismatch repair system (MMR). Forms two different heterodimers: MutS alpha (MSH2-MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds to DNA mismatches thereby initiating DNA repair. When boun

PDB

2O8B , 2O8C , 2O8D , 2O8E , 2O8F , 3THW , 3THX , 3THY , 3THZ , 8AG6 , 8OLX , 8OM5 , 8OM9 , 8OMA , 8OMO , 8OMQ , 8R7C , 8R7E , 8R7V , 8RZ7 , 8RZ8 , 8RZ9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01624	MutS_I	17 → 132	MutS domain I	Domain
PF05188	MutS_II	145 → 290	MutS domain II	Domain
PF05192	MutS_III	305 → 609	MutS domain III	Domain
PF05190	MutS_IV	473 → 569	MutS family domain IV	Domain
PF00488	MutS_V	665 → 852	MutS domain V	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:10856833}.

Sequence

MAVQPKETLQLESAAEVGFVRFFQGMPEKPTTTVRLFDRGDFYTAHGEDALLAAREVFKT
QGVIKYMGPAGAKNLQSVVLSKMNFESFVKDLLLVRQYRVEVYKNRAGNKASKENDWYLA
YKASPGNLSQFEDILFGNNDMSASIGVVGVKMSAVDGQRQVGVGYVDSIQRKLGLCEFPD
NDQFSNLEALLIQIGPKECVLPGGETAGDMGKLRQIIQRGGILITERKKADFSTKDIYQD
LNRLLKGKKGEQMNSAVLPEMENQVAVSSLSAVIKFLELLSDDSNFGQFELTTFDFSQYM
KLDIAAVRALNLFQGSVEDTTGSQSLAALLNKCKTPQGQRLVNQWIKQPLMDKNRIEERL
NLVEAFVEDAELRQTLQEDLLRRFPDLNRLAKKFQRQAANLQDCYRLYQGINQLPNVIQA
LEKHEGKHQKLLLAVFVTPLTDLRSDFSKFQEMIETTLDMDQVENHEFLVKPSFDPNLSE
LREIMNDLEKKMQSTLISAARDLGLDPGKQIKLDSSAQFGYYFRVTCKEEKVLRNNKNFS
TVDIQKNGVKFTNSKLTSLNEEYTKNKTEYEEAQDAIVKEIVNISSGYVEPMQTLNDVLA
QLDAVVSFAHVSNGAPVPYVRPAILEKGQGRIILKASRHACVEVQDEIAFIPNDVYFEKD
KQMFHIITGPNMGGKSTYIRQTGVIVLMAQIGCFVPCESAEVSIVDCILARVGAGDSQLK
GVSTFMAEMLETASILRSATKDSLIIIDELGRGTSTYDGFGLAWAISEYIATKIGAFCMF
ATHFHELTALANQIPTVNNLHVTALTTEETLTMLYQVKKGVCDQSFGIHVAELANFPKHV
IECAKQKALELEEFQYIGESQGYDIMEPAAKKCYLEREQGEKIIQEFLSKVKQMPFTEMS
EENITIKLKQLKAEVIAKNNSFVNEIISRIKVTT

Sequence length

934

Interactions

View interactions

	KEGG		Reactome
	Platinum drug resistance Mismatch repair Pathways in cancer Colorectal cancer		Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) Defective Mismatch Repair Associated With MSH3 Defective Mismatch Repair Associated With MSH2 Defective Mismatch Repair Associated With MSH6 TP53 Regulates Transcription of DNA Repair Genes

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

Show/Hide Causal Diseases (39)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Breast and/or ovarian cancer	Likely pathogenic; Pathogenic	rs63750398, rs587779094, rs267607984	RCV001270946 RCV001270944 RCV001270945	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast carcinoma	Pathogenic	rs193922376, rs63750508, rs63750199, rs63749848	RCV001579303 RCV001650893 RCV001262885 RCV001262888	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast-ovarian cancer, familial, susceptibility to, 1	Likely pathogenic; Pathogenic	rs1558519505	RCV004584975	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carcinoma of colon	Pathogenic; Likely pathogenic	rs2103865151, rs2103865247, rs2103974901, rs2103974925, rs2104016560, rs2104023773, rs2104097954, rs2104242036, rs2104247370, rs2104435254, rs2104082025, rs2104334736, rs2104367663, rs2104368001, rs2104409719 View all (41 more)	RCV001356993 RCV001356783 RCV001356850 RCV001355108 RCV001357072 View all (51 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colon adenocarcinoma	Pathogenic; Likely pathogenic	rs193922376, rs587779194	RCV005888780 RCV005867848	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon cancer	Pathogenic	rs1573574436, rs1114167806	RCV000788994 RCV000677888	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colonic diverticula	Pathogenic	rs63750630	RCV001554291	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Pathogenic	rs1672233572	RCV001293833	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Pathogenic	rs63749915	RCV006253778	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial carcinoma	Pathogenic; Likely pathogenic	rs2104023773, rs2104439295, rs267607939, rs587779094, rs63750224, rs267607972, rs63750084, rs587779185	RCV001354085 RCV001355231 RCV001355929 RCV003128141 RCV001357508 RCV000076218 RCV001357129 RCV001354544 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs267607953, rs1114167833, rs1114167852, rs63750738, rs587779099, rs587779138, rs267608017, rs63750924	RCV005361164 RCV005355986 RCV005367350 RCV005357486 RCV005362171 RCV005357488 RCV005364970 RCV003313934 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial colorectal cancer	Likely pathogenic; Pathogenic	rs1667575488, rs63750582	RCV001171465 RCV000168725	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Pathogenic; Likely pathogenic	rs63751108, rs2528901120, rs2529075615, rs775464903, rs1114167816, rs63750597, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs587779193	RCV003162204 RCV003164606 RCV003164607 RCV003168800 RCV003159593 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glioblastoma	Pathogenic	rs1558518449	RCV000722035	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs267607689, rs2104243932, rs2104439295, rs267607987, rs2104401876, rs63751604, rs2104367794, rs2104017390, rs2104035729, rs63750426, rs2104168299, rs1573548065, rs587779093, rs267607962, rs2104170912 View all (1091 more)	RCV002368161 RCV002377503 RCV002322309 RCV002420773 RCV002447444 View all (1275 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary nonpolyposis colon cancer	Likely pathogenic; Pathogenic	rs2104102733, rs2104082965, rs2104172666, rs2104106456, rs2104108772, rs587779979, rs63750737, rs63751604, rs28929484, rs63751207, rs63749811, rs2104087118, rs2528749665, rs786204321, rs759263820 View all (82 more)	RCV001375582 RCV001420856 RCV001553640 RCV001779465 RCV001825145 View all (94 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary nonpolyposis colorectal carcinoma	Likely pathogenic	rs267607957	RCV001789614	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary nonpolyposis colorectal neoplasms	Likely pathogenic; Pathogenic	rs2104082025, rs2104042264, rs63751604, rs2104367794, rs2104379659, rs2104017390, rs2104033787, rs2104035729, rs63750426, rs2104168299, rs2104174891, rs587779198, rs63751142, rs2104444013, rs2104086036 View all (646 more)	RCV001871953 RCV001377953 RCV001377641 RCV001377262 RCV001379360 View all (757 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited MMR deficiency (Lynch syndrome)	Likely pathogenic; Pathogenic	rs863225397, rs563410947, rs587779101, rs63750689, rs267608001, rs63750778, rs63749849, rs587779110, rs63750508, rs63750160, rs267607994, rs63751621, rs63749975, rs63750624	RCV005863043 RCV006437212 RCV006261970 RCV006436794 RCV006436795 View all (10 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited ovarian cancer (without breast cancer)	Pathogenic	rs2465786257	RCV006270251	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lynch syndrome	Pathogenic; Likely pathogenic	rs2104016448, rs2104023773, rs2103751857, rs587782659, rs28929483, rs63751108, rs28929484, rs63749831, rs63750047, rs63751207, rs63749811, rs1553350126, rs63750875, rs63751449, rs2528692699 View all (450 more)	RCV001355861 RCV001358629 RCV001354993 RCV000503476 RCV000076307 View all (499 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lynch syndrome 1	Pathogenic; Likely pathogenic	rs2104023773, rs2104247370, rs2104439295, rs2104082025, rs267607987, rs2104367663, rs63751604, rs2104367794, rs2104017390, rs63751142, rs2104444013, rs1573548065, rs267607962, rs2104170912, rs1558511092 View all (805 more)	RCV003449989 RCV003450005 RCV003449993 RCV005361560 RCV003449995 View all (949 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lynch syndrome 4	Pathogenic	rs63749932	RCV004555850	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lynch-like syndrome	Likely pathogenic; Pathogenic	rs63751604, rs1114167852, rs63749932, rs193922376, rs730881784, rs587779065, rs63751027, rs63749849, rs267607950, rs267607949, rs267607920, rs1573437064, rs563410947, rs1672956184, rs1673072429 View all (25 more)	RCV001249911 RCV001249922 RCV001250040 RCV001249912 RCV001250031 View all (35 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of ascending colon	Pathogenic	rs63749932	RCV000677886	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of breast	Pathogenic; Likely pathogenic	rs1553370324, rs267607934	RCV000504270 RCV001357326	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mismatch repair cancer syndrome 1	Pathogenic	rs63751108, rs63750875, rs1558461615, rs267607940, rs63749849, rs587779075, rs63750508, rs63750636, rs63750088, rs587779190, rs63750828	RCV000763491 RCV000763493 RCV001535531 RCV000763489 RCV000763490 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mismatch repair cancer syndrome 2	Likely pathogenic; Pathogenic	rs2104082025, rs2104042264, rs63751449, rs587779166, rs267607933, rs2465814567, rs1208014123, rs2104440647, rs863225397, rs863225391, rs587782537, rs1114167845, rs63750245, rs193922376, rs63750597 View all (29 more)	RCV005361560 RCV003150827 RCV000001839 RCV005031675 RCV005356110 View all (39 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MSH2-related disorder	Pathogenic; Likely pathogenic	rs63749831, rs1465016316, rs876658211, rs2528756764, rs587779101, rs1114167831, rs193922376, rs63751477, rs63750778, rs267607943, rs63749849, rs587779075, rs63750086, rs63749947, rs63750961, rs63749830, rs63750704, rs267607689 View all (3 more)	RCV004797748 RCV004545838 RCV004541345 RCV004545861 RCV004722826 View all (13 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
	Likely pathogenic; Pathogenic	rs2104082025, rs2104441416, rs2528907638, rs63751108, rs63750047, rs1553350126, rs63750875, rs587779166, rs267607933, rs2465814567, rs1208014123, rs1114167854, rs2104440647, rs863225397, rs863225391 View all (37 more)	RCV005361560 RCV001809176 RCV001823859 RCV000763491 RCV000001828 View all (47 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neoplasm	Pathogenic	rs63750393, rs63750087	RCV005229832 RCV004668771	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian cyst	Pathogenic	rs63750086	RCV001554324	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian neoplasm	Pathogenic	rs1558521605, rs63751411, rs63750843	RCV000785435 RCV000785573 RCV000785436	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs267608020	RCV005899753	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Papillary renal cell carcinoma type 1	Likely pathogenic; Pathogenic	rs12476364, rs587779194	RCV005899475 RCV005867849	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdomyosarcoma	Pathogenic	rs63749849	RCV001257542	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sigmoid colon cancer	Pathogenic	rs63750934	RCV000677887	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus cancer	Likely pathogenic; Pathogenic	rs2529029832, rs63750633, rs63751299	RCV003128178 RCV003128142 RCV003128143	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic; Pathogenic	rs267607953, rs193922376	RCV005893616 RCV005888781	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (50)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia-telangiectasia syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bile duct cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cancer or benign tumor	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer, hereditary nonpolyposis, type 2	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer, non-polyposis	Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ADRENAL HYPERPLASIA DUE TO 21 HYDROXYLASE DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE OF COLON	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ependymoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BREAST CARCINOMA	—	ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY NON-POLYPOSIS COLON CANCER TYPE 2	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inherited polyposis and early onset colorectal cancer - germline testing	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal polyposis syndrome	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYNCH SYNDROME I	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant glioma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT PANCREATIC NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MSH2 POLYMORPHISM	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUIR-TORRE SYNDROME	—	CTD, GWAS catalog, HPO CTD, GWAS catalog, HPO CTD, GWAS catalog, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple monogenic benign skin tumours	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity; Benign	ClinVar GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OVARIAN CYSTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polyp of colon	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rectal neoplasm	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (547)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Actinic keratosis	Actinic keratosis	BEFREE	16456327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	10397740		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	10397740, 18955159, 21946537, 24528056, 24990612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	10397740		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	11150379, 11301392, 11306499, 11532035, 12118112, 12627520, 12823711, 15676154, 16158938, 16614121, 16937450, 22865300, 24185125, 24360395, 27258561, 28555354, 28790115 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	11474654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	12139636, 17941949, 18987546, 22376079		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of duodenum	Adenocarcinoma Of Duodenum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	27459116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	16614121, 22865300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	28555354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of rectum	Adenocarcinoma Of Rectum	BEFREE	12885834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	11221877, 11710827, 12448010, 15712188, 15842592, 15858139, 17929199, 18781192, 21706233, 7523876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	18306971, 22361441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	14749686, 15194222, 15475941, 15964509, 17723178, 24735542, 25908507, 29146522, 29309780, 30324682, 7694093, 9062584, 9482574, 9848995, 9935197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	15143336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	16394087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	15143336, 21225464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	15143336, 25078331, 27144940, 30593126, 33615670	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10397740, 18955159, 21946537, 24528056		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	15682421, 9739019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	27144940, 28940135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agnosia	Agnosia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	28398700	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alveolar Soft Part Sarcoma	Alveolar Sarcoma	BEFREE	14562278, 16328670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	11334467, 29476681		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	29476681	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	BEFREE	9935197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	16875495		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	BEFREE	23255519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	15143336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	10712226	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	20052760, 24518836	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	37200008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	27144940, 28940135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	15547100	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	16875495	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	24073290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	24073290	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	29309780		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	14614055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Auditory Perceptual Disorders	Auditory perceptual disorder	Pubtator	11416201	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	18409202		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	18181177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	11301392, 29972732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	11876475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign digestive system neoplasms	Benign Digestive System Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign genitourinary tract neoplasm	Benign genitourinary tract neoplasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign neoplasm of central nervous system	Benign Neoplasm Of Nervous System	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	21348638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	11223838, 29360550		★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasm	Biliary Tract Neoplasm	LHGDN	18470917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	29360550	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	11161395, 12712438, 18562223, 20591884, 22883484, 25319978, 29362915, 30414698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	15520224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bowen's Disease		Pubtator	34590599	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	12110639, 16372347, 25648859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	LHGDN	12549480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	15161053	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	39910726	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	14520695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	CLINGEN_DG	15886699, 26975740		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10845276, 11369138, 11477562, 12529969, 15010883, 15890247, 16252083, 17390069, 17846840, 17922223, 18329696, 19728162, 20708344, 21047769, 22034109 View all (14 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Carcinoma	Breast Carcinoma	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Carcinoma	Breast Carcinoma	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Diseases	Breast Diseases	LHGDN	15467428		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast disease	Pubtator	15467428, 34261476	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	14735197, 15642167, 21047769, 23164213, 23372687, 23852586, 24884479, 25986046, 26400527, 26824983, 27466510, 27630279, 28125613, 29209986, 30481381 View all (8 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	BEFREE	11809679		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cancer of Urinary Tract	Urinary Tract Cancer	BEFREE	11600610, 20591884, 24122742, 26385421, 8612988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cancer Pain	Cancer	Pubtator	34326811	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	11350971, 11920468, 12115348, 15467428, 16158938, 20564624, 21703420, 22173703, 22493490, 23231927, 32373223, 37657688, 9657101	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	15599934	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10418831, 10446111, 10769643, 10815898, 11306449, 11391585, 11710827, 11986189, 12118112, 12627520, 12641777, 12741892, 14652271, 15194222, 15578423 View all (16 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	22433851, 23648460	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	28667494, 30089731	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	15467428	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	10746679, 33256706	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	11332201, 15918183, 17350822, 24400091, 32363617, 34250406, 35853969, 37889061, 9657101	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	15467428	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of endometrium	Endometrial carcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Medullary	Medullary carcinoma	Pubtator	34895278	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	11161395, 12712438, 18562223, 20591884, 22883484, 25319978, 29362915, 30414698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	23787767		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15605365, 16061855, 16614121, 21093954, 22806311, 24530475, 25252909, 30655874, 31207149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	10408416, 16884359, 24728189, 29020732, 31666131, 36994850	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	26226846, 28726808	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35445726	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	10782890, 22493490, 24874052, 29509313	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	18781192	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	22269178, 22865300, 24360395, 34590599	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	16012876, 28667494		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	LHGDN	14631366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	11592780, 14574006, 16361634, 18398828, 18469706, 19032668, 21837758, 23047549, 23426126, 23677535, 24333356, 25175513, 30979843, 31666131, 7827156, 7937795, 7987639, 8550235, 8824498 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinosarcoma	BEFREE	17666659		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	21572397	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiac diverticulum	Cardiac Diverticulum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney Complex	BEFREE	8855810		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cecal Neoplasms	Cecal neoplasms	Pubtator	16437731	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	15466202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	22739024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	22739024, 38139220	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Primitive Neuroectodermal Tumor	Cerebral Primitive Neuroectodermal Tumor	BEFREE	19390556		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	17352217		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	17352217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10397740, 18955159, 24528056		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	17051350		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	LHGDN	17051350		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosomal Instability	Chromosomal instability	Pubtator	16501564, 17724798, 20052760	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	BEFREE	21091774		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12592341		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clear Cell Sarcoma of Soft Tissue	Sarcoma	BEFREE	16619000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	17723178, 18223333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	10673298, 25247297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10680334, 10739686, 11416201, 11604984, 12110639, 12595050, 14574163, 14606077, 15254659, 15316055, 15340261, 15837969, 16473673, 18299982, 19047842 View all (32 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	10469597, 12547705, 15551255, 27262172, 29715107, 7977449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	15222003, 16158938, 21288634, 23301373, 23729658, 23958088, 24518125, 28819720, 28938458, 29672549, 32611652, 36518767, 37314143	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	15375803, 15735976, 16106253, 17109103, 17160686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	18987546	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	24484585	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Polyps	Colonic polyps	Pubtator	18214062, 8880570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Cancer Hereditary Nonpolyposis Type 5	Lynch syndrome	Pubtator	18186571	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal cancer, hereditary nonpolyposis, type 1	Colorectal Cancer	UNIPROT_DG	10375096, 10386556, 10528862, 10573010, 10612836, 10777691, 10829038, 11726306, 11870161, 11920458, 12112654, 12124176, 12132870, 12200596, 12362047 View all (39 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer, hereditary nonpolyposis, type 1	Colorectal Cancer	CLINVAR_DG	10874318, 11920650, 12124176, 12352241, 12537652, 12624141, 12626904, 14574162, 14594944, 15235030, 15235034, 15655560, 15680406, 15713769, 15849733 View all (52 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer, hereditary nonpolyposis, type 1	Colorectal Cancer	GENOMICS_ENGLAND_DG	24362816		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10051005, 10190329, 10323887, 10343885, 10378595, 10386556, 10418831, 10446111, 10507723, 10523644, 10573010, 10594000, 10601588, 10630171, 10673298 View all (262 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG	12792735, 14504054, 15996210, 9559627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	18949393		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10051005, 10077621, 10507723, 10523644, 10544224, 10682661, 10732761, 10978352, 10978353, 11104559, 11304573, 11333868, 11358903, 11376026, 11720433 View all (180 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	10397740, 11150379, 12702580, 15856472, 15959913, 20305446, 23801599, 29715107, 30499618, 8542572, 9850081		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	11782355, 12595050, 12792735, 12808326, 15816455, 15996210, 16086322, 16106253, 16684085, 16786121, 16874859, 16902769, 17333219, 17569143, 17582678 View all (5 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11851879, 15507669, 20118596, 21946537	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	14633958	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	18949393		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	10037723, 10051005, 10397740, 10507723, 10594000, 10712226, 11112663, 11231323, 11416201, 11570578, 11854906, 11920458, 12057899, 12124176, 12379157 View all (238 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	16423994, 20118596, 21911971, 22017758, 23354017, 29371329, 9245993	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	29587389, 32144135, 9311737	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complete hydatidiform mole	Complete Hydatidiform Mole	BEFREE	15338238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	16464797, 8855810		★★★★★ ★☆☆☆☆ Found in Text Mining only
Constitutional Mismatch Repair Deficiency Syndrome	Constitutional Mismatch Repair Deficiency Syndrome	CLINGEN_DG	10763829, 11809679, 12549480, 15340263, 16372347, 17601929, 18593904, 19101824, 7550317, 9927034		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Constitutional mismatch repair deficiency syndrome	Constitutional Mismatch Repair Deficiency Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	10782890, 18325052, 20846263, 22378480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	26088318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	11532035, 18223333, 18635600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	LHGDN	18635600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	18635600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	15832775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	30773532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	12574395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma Protuberans	Dermatofibrosarcoma Protuberans	BEFREE	15350299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Desmoplastic Medulloblastoma	Medulloblastoma	BEFREE	29302048		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26088318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	11187904		★★★★★ ★☆☆☆☆ Found in Text Mining only
DOYNE HONEYCOMB RETINAL DYSTROPHY	Doyne Honeycomb Retinal Dystrophy	BEFREE	10585764		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysgraphia	Dysgraphia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysplastic Nevus	Dysplastic Nevus	BEFREE	15832775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	14562032, 28819700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	10072435, 10323887, 10728595, 10746679, 10938395, 10999752, 11054716, 11291077, 11306449, 11333868, 11391585, 11600610, 11801550, 11920468, 11920650 View all (66 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	CGI_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	11054716, 11291077, 11920468, 12801268, 14668545, 23426126		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	11920468	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	12801268	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	37940339	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	10051005, 10746679, 11920468, 12115348, 12454801, 14504054, 15118395, 15222003, 15611052, 15937084, 16323174, 16803540, 17003396, 18781192, 20727894 View all (37 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	BEFREE	11291077, 16803540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	11920468, 14499697, 17987798, 18674656		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	27144940	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrioid carcinoma ovary	Ovarian endometrioid carcinoma	BEFREE	14631366, 24018808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	24018808, 25973079		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	25973079	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epithelial ovarian cancer	Ovarian cancer	BEFREE	19032668, 23047549, 31666131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	12697969, 22173703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	12697969, 22173703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	12697969		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	22173703	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	16256791, 37009661	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	17530287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Colorectal Cancer Type X	Colorectal Cancer	BEFREE	28944238, 29849630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial medullary thyroid carcinoma	Thyroid cancer	Pubtator	26530882, 34326811	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	29972732		★★★★★ ★☆☆☆☆ Found in Text Mining only
familial non-medullary thyroid cancer	Thyroid cancer	GENOMICS_ENGLAND_DG	22714864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Retinoblastoma	Retinoblastoma	BEFREE	15480874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	21975120, 23779253, 24966277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	34404366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	21975120, 23779253, 24966277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	27036951		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	9620556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrous skin tumor of tuberous sclerosis	Adenoma sebaceum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	30773532, 8698331		★★★★★ ★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	21040903, 22798143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	15578423, 21283657		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	20564624, 21283657, 31068195, 33328484	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	LHGDN	15904475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	28093084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	LHGDN	17011982		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	20118596	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Genital Neoplasms, Female	Genital Neoplasms, Female	BEFREE	16937235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gestational trophoblastic disease	Hydatidiform mole	BEFREE	15338238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Fibroblastoma	Giant Cell Fibroblastoma	BEFREE	15350299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	22876139	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	12582944, 12754350, 15015769		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioblastoma	Glioblastoma	BEFREE	12754350, 21425258, 22017238, 25991676, 26025730, 28371827, 31480372		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioblastoma	Glioblastoma	Pubtator	12754350, 21288634, 28912153, 34848827, 35441887	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioblastoma	Glioblastoma	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioblastoma Multiforme	Glioblastoma	BEFREE	12754350, 15481721, 21288634, 21425258, 22017238, 25991676, 26025730, 28371827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	12025942, 24723567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	16875495, 17388945, 24723567, 33140187, 40302099	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	16569647, 20438357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head And Neck Neoplasms	LHGDN	16569647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	16569647	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	28093084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	11809679, 11852345, 16372347		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	LHGDN	11809679		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	10450752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	31610173	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	11496300, 17962810		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	BEFREE	10954253, 17935271, 19383374, 23666231, 26289772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	24549055, 30128536, 31650731, 32039725, 33484353, 35608067	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Malignant Neoplasm	Hereditary cancer	BEFREE	16872788, 24501230, 28422960, 28779004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Non-Polyposis Colon Cancer Type 2	Colorectal Cancer	BEFREE	10874318		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Non-Polyposis Colon Cancer Type 2	Colorectal Cancer	CLINVAR_DG	15943554, 16451135, 17531815, 18559331, 18822302, 19659756, 21642682, 23604856, 24362816, 9774676		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary non-polyposis colorectal cancer syndrome	Hereditary nonpolyposis colorectal cancer	CLINGEN_DG	17101317, 23255516, 27329137, 8261515, 8706033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary non-polyposis colorectal cancer syndrome	Hereditary nonpolyposis colorectal cancer	ORPHANET_DG	22234272, 26076155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	10037723, 10080150, 10086635, 10200055, 10375096, 10378595, 10386556, 10397236, 10418831, 10432927, 10446963, 10448273, 10480359, 10537275, 10573010 View all (457 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	CLINVAR_DG	10080150, 10196371, 10413423, 10422993, 10432927, 10469597, 10523644, 10564582, 10874318, 10995807, 11074494, 11179758, 11208710, 11291077, 11304573 View all (164 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	CTD_human_DG	12702580, 14756672, 22102614, 25701956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	CLINGEN_DG	17101317, 23255516, 27329137, 8261515, 8706033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	ORPHANET_DG	22234272, 26076155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary nonpolyposis colorectal carcinoma	Hereditary nonpolyposis colorectal cancer	BEFREE	10537275, 11221877, 11391585, 12067992, 14584079, 15619215, 7713503, 7812952		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	CLINVAR_DG	10080150, 10196371, 10375096, 10404063, 10469597, 10480359, 10495924, 10612827, 10612836, 10713887, 10874307, 10978353, 10995807, 11112663, 11151427 View all (195 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	11782355, 11857745, 12095971, 12203789, 12454801, 12938096, 14499697, 15042510, 15062061, 15063132, 15200905, 15216397, 15350299, 15571801, 15782118 View all (16 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	12702580, 14756672, 22102614, 25701956		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	CLINGEN_DG	17101317, 23255516, 27329137, 8261515, 8706033		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary pancreatitis	Pancreatitis	Pubtator	28687971	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	11890986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	10581038, 12554681, 15496421, 21566259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	15338238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole, Partial	Hydatidiform Mole	BEFREE	15338238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	31686413	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	11139485	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	22343000	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	12712483, 15643505		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	11139485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	11139485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28555354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	35767190	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	23935891, 8387880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal polyposis	Pubtator	25204323	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal Polyposis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Polyps	Intestinal polyps	Pubtator	25561800	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Meningioma	Intracranial Meningioma	BEFREE	28705114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	14506736, 16773692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	14717755		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratosis pilaris	Keratosis pilaris	BEFREE	11910346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	12650804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	22331944	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	23787767		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	22739024	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	28577310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	27036951	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	10397740, 21946537	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	11809679, 12529664, 12688322, 12912950, 24528056		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	12688322		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	10397740, 11972518	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23349304	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10397740, 11972518, 12912950		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	15682421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	17219447		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	LHGDN	17219447		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	16918138, 31502267		★★★★★ ★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	16405554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma, Pleomorphic	liposarcoma	BEFREE	23299928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10024676, 11494037, 14656944, 15566504, 15918183, 21091774, 23537056, 24400091, 27261510, 29874113, 9657101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17350822		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	17350822		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	12639995, 19398597		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	17426788, 26975374, 28008145, 31207149, 39908142	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17566596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	15890247, 19032668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	17596548	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24415879, 33501557	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	11187904, 11496300, 11852345, 11890986, 11999575, 12688322, 14574005, 18181177, 26327213, 9116269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	12549480, 12688322		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	17601929, 9680371	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	11187904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	14580774		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	LHGDN	14580774, 17601929, 18181177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	14580774, 17601929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	LHGDN	11999575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	CTD_human_DG	12702580, 14756672, 22102614, 25701956		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lynch Syndrome	Lynch Syndrome	BEFREE	14635101, 15938070, 16143124, 16181381, 16264161, 16341804, 16353207, 16361634, 16541406, 16736289, 16826164, 16908935, 17003395, 17039271, 17192056 View all (192 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lynch Syndrome	Lynch Syndrome	CLINGEN_DG	17101317, 23255516, 27329137, 8261515, 8706033		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lynch syndrome	Lynch Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lynch Syndrome	Lynch Syndrome	GENOMICS_ENGLAND_DG	23788249		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lynch syndrome I (site-specific colonic cancer)	Colorectal Cancer	CTD_human_DG	19098912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lynch Syndrome II	Lynch syndrome	Pubtator	36011265	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	18481196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	11066081, 15551306, 21598002		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant genitourinary tract tumor	Genitourinanry Tract Tumors	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	15481721, 17388945		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	16569647, 20438357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	11999575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ascending colon	Ascending colon cancer	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10845276, 11369138, 11477562, 15010883, 15890247, 16252083, 17390069, 17846840, 17922223, 18329696, 19728162, 20708344, 21047769, 21997695, 22034109 View all (14 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	10072435, 10938395, 11291077, 11306449, 11600610, 11920650, 11956307, 12792767, 14499697, 14504054, 14614055, 14961575, 15033666, 15118395, 15236168 View all (34 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	12697969, 22173703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	21283657		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	15042510, 16937235, 17011982, 22883484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	16639607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	23787767		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	27261510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15605365, 16061855, 16614121, 21093954, 22806311, 24530475, 25252909, 30655874, 31207149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	16918138, 31502267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	10051005, 11592780, 14574006, 16361634, 17939062, 18398828, 18469706, 19032668, 21837758, 23047549, 23426126, 23677535, 24333356, 25175513, 25695547 View all (6 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	19032668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	10938395, 19728162, 21660619, 21926548, 22219001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11025778, 11398174, 11444857, 12432247, 12684669, 16217293, 16908935, 23054215, 25117503, 25255306, 26289772, 27013479, 28790115, 28893901, 30681994, 30730411, 31811435 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of sigmoid colon	Sigmoid Cancer	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	19818066, 30784122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	10393852, 12110639, 12132870, 12632492, 17011982, 18726168, 19152022, 19900449, 20533283, 21136174, 22386861, 31207149, 31319185, 31372044, 9824204		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	18076065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ureter	Malignant Neoplasm Of Ureter	BEFREE	17939062, 30882153		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	11161395, 12712438, 18562223, 20591884, 22883484, 25319978, 29362915, 30414698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10023718, 10037723, 10086635, 10190329, 10378595, 10397236, 10397239, 10432927, 10469597, 10470424, 10471527, 10573010, 10585582, 10615127, 10739686 View all (162 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	17352217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10680334, 10739686, 11416201, 11604984, 12110639, 12414815, 12595050, 14574163, 15254659, 15316055, 15340261, 15657659, 15780936, 15837969, 16473673 View all (39 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of small intestine	Small intestine cancer	BEFREE	16740762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	14735197, 15890247, 16311127, 21047769, 26381082, 26400527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16252083, 17922223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	11999575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	11150376, 11213834, 12118112, 12509957, 12766614, 15138486, 15138928, 16106253, 16639607, 16760302, 18301950, 19109866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	10793075, 16996571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	16996571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	28376765, 29302048	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	17611581		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11205295, 11241897, 11409565, 15161053, 15619215, 15832775, 16619000, 16619529, 17611581, 18460031, 19741564, 7987639		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	LHGDN	14714570, 15161053, 15832775		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	15832775, 16619000, 16619529, 17611581, 35705315	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	15832775	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	16197812, 28705114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	28705114, 36975468	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29704123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	10086635, 10535567, 10815898, 11859205, 12139636, 12641777, 17323113, 17941949, 18236172, 19602866, 22814321, 23149194, 25197397, 25213213, 28165350, 28323777, 8931714, 9349329, 9634524 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	12448010, 23648460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muir-Torre syndrome	Muir-Torre Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	Pubtator	35536760	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MUTYH-Associate Polyposis	Polyposis	BEFREE	24518836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	10450752		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	10450752, 29387203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	11122116	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	32155193, 40296143	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	8698331		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm of skeletal system	Neoplasm of skeletal system	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10023718, 10024676, 10190329, 10323887, 10382540, 10393852, 10397740, 10404063, 10432927, 10446963, 10450752, 10468602, 10470113, 10496533, 10524526 View all (298 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	10077621, 10080150, 10196371, 10323887, 10375096, 10404063, 10413423, 10422993, 10448273, 10480359, 10495924, 10523644, 10528862, 10530344, 10564582 View all (305 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	BEFREE	21769135, 23248292, 25200962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	22234160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	22234160	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10037468, 11496300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	28033528	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	21821902	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	9215683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	11809679, 18781192, 19101824, 19639020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	Pubtator	19639020	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	10945633, 12209975, 12639995, 16061855, 16716446, 17566596, 18646042, 19056144, 23410825, 24185125, 24205245, 24530475, 29024929, 30655874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28537674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28537674	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	BEFREE	29476681		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	28983945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	38050610	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	23776525	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	15547100	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30065912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	32191290, 35279875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	23426126, 25175513		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	15138928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian cysts	Pubtator	37188452	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Diseases	Ovarian diseases	Pubtator	20072951	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	11592780, 14574006, 16361634, 18398828, 18469706, 19032668, 21837758, 23047549, 23677535, 24333356, 26381082, 30979843, 7827156, 7937795, 7987639, 8550235, 8824498 View all (2 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	19032668		★★★★★ ★★★★☆ 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 neoplasm	Ovarian neoplasm	CGI_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	10051005, 10408416, 11350971, 11477138, 12454801, 14601090, 14631366, 16941012, 20072951, 21837758, 22331944, 26718727, 28772289, 28888541, 29400022 View all (12 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	10938395, 19728162, 21660619, 21926548, 22219001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Carcinoma	Pancreatic cancer	Pubtator	34895278	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma, familial	Pancreatic carcinoma	BEFREE	28687971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	15856462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21212431, 21926548, 22331944, 25479140, 26440929, 27449771, 27856273, 34371384, 36896836, 39256447	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	BEFREE	31491579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	12127404, 28402931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	16394087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	29342268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	BEFREE	29342268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	32606442, 37239438	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	BEFREE	8880570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	12479849, 18955159, 21946537, 24528056		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	12479849, 9116269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	9680371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11025778, 11398174, 11444857, 11857301, 12432247, 12684669, 16217293, 16908935, 21348638, 23054215, 25255306, 26289772, 27013479, 28790115, 28893901, 30681994, 30730411 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	11857301	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	11112663, 19723918, 25255306, 27013479, 28790115, 28961847, 30636012, 31629422, 32315455, 33287897, 35487690, 35534218, 35666082, 37207301, 37283096, 37733366, 38458890 View all (2 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12684669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	16924473, 28790115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25117503	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25938433, 32384491	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	17457197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	34859104	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	10433009, 10471527, 10713887, 12885834, 15300804, 16405554, 22776788, 23358792, 23573243, 25560462, 9559626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	16639607, 22493490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	16328670, 18325052, 22378480, 22493490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	12650804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	36630951	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	15480874, 20010080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12574395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoidosis Pulmonary	Sarcoidosis	Pubtator	12521125	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	11496300, 12712483, 15551306, 15643505		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	12712483, 14584079	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	LHGDN	14562278		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Clear Cell	Sarcoma	Pubtator	16619000	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Endometrial Stromal	Endometrial stromal sarcoma	Pubtator	10051005, 31337882	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sebaceous Adenocarcinoma	Sebaceous Adenocarcinoma	BEFREE	17941949, 21550136, 24518836, 31664942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sebaceous Adenocarcinoma	Sebaceous Adenocarcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sebaceous Gland Neoplasms	Sebaceous gland neoplasms	Pubtator	11180000, 16826164, 18065960, 19069357, 29718441	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	30396964		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	15467433		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	15467433	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren-Larsson Syndrome	Sjogren-Larsson Syndrome	BEFREE	26648449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	18348455, 25207368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	10594728, 15662714, 17601929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	10594728, 26077460, 26312706, 8931714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	11069471, 11231323, 11859205, 14518071, 15166087, 16327991, 17970804, 8931714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	29888431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small intestine carcinoma	Small Intestinal Carcinoma	BEFREE	16740762, 17939062, 18781192		★★★★★ ★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	12940783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	12173039, 15890247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	10999751, 11859205, 16918138, 17970804, 19207881, 19818066, 22269178, 22865300, 24360395, 25598504, 25674277, 30560308, 31502267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	16918138, 17219447, 17479411, 17711772, 18331286, 19160096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	16231369, 16256791, 17479411, 22265839, 31396961		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	17219447, 19015635, 24212987, 27258499, 30548484, 33501557, 33714009, 35789992	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36005175	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	10945633		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	17022696		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	11433399, 12509964, 17219447, 24212987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	21029181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	12712483, 15643505		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	10393852, 11422806, 12132870, 12632492, 17011982, 18726168, 19152022, 19900449, 20533283, 21136174, 22386861, 31207149, 31319185, 31372044, 9824204		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	34251444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	10393852, 15309712, 15526354, 16619551, 16810763, 19181186, 21777278, 23575079, 23803092, 27527654, 28525661, 29706558, 30803214, 31308508, 31319185 View all (7 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	12632492, 18202787, 18265677		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12632492	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	39320958	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	15856472		★★★★★ ★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	10023718, 15296997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	15467433		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	15467433	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	32242507	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	28402931	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	15143336	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	21358597	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	15143336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	15143336	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	16827152	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Torre-Muir syndrome	Torre-Muir Syndrome	BEFREE	10815898, 11180000, 11231323, 11859205, 12139636, 14518071, 16456327, 16826164, 17034469, 17051350, 17250661, 17323113, 18065960, 18236172, 18270343 View all (11 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Torre-Muir syndrome	Torre-Muir Syndrome	ORPHANET_DG	14994245, 15235030, 25006859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Torre-Muir syndrome	Torre-Muir Syndrome	LHGDN	17051350, 18270343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Torre-Muir syndrome	Torre-Muir Syndrome	GENOMICS_ENGLAND_DG	24362816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Torre-Muir syndrome	Torre-Muir Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Torre-Muir syndrome	Torre-Muir Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	10023718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	17846840, 18081655, 8387880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25134804, 30806579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25134804	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	11376026, 25117503	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	16299036, 19069357, 29329588, 31765263, 32197529, 32804882, 34048176, 34545179, 35946190, 36581850, 37699372, 38378964	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	18061181, 18787700, 20176959, 20655395, 21242281, 22581703, 22692065, 22739024, 26116798, 27327152, 27432916, 27978560, 28381238, 28591715, 28988047 View all (14 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	10337989, 11213834, 11376026, 11601928, 12386821, 14871813, 15254659, 15289847, 16773692, 18061181, 18470917, 18603628, 20233627, 20632815, 21242281 View all (16 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	CLINGEN_DG	10763829, 11809679, 12549480, 15340263, 16372347, 17601929, 18593904, 19101824, 7550317, 9927034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	GENOMICS_ENGLAND_DG	11809679, 16372347, 23788249, 24362816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	ORPHANET_DG	20442441, 23483711		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	10673298, 11893037, 18223333, 25247297, 7797014, 9923920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	23648460, 31491579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ureteral Neoplasms	Ureteral Neoplasms	BEFREE	19995443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ureteral Neoplasms	Ureteral neoplasms	Pubtator	19995443	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	11161395, 11506498, 20591884, 29362915, 30414698, 34964002, 36818940	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic neoplasm	Pubtator	31337882, 31615790, 37798659	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	21419447, 24874052, 27174960, 31844177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cancer	Endometrial Cancer	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	34404366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	17352217, 17596548, 34404366, 37657688	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	27036951		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vipoma	VIPoma	BEFREE	23231927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vipoma	Vipoma	Pubtator	23231927	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Warburg Sjo Fledelius syndrome	Warburg micro syndrome	Pubtator	15138486	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MSH2 (mutS homolog 2)