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	4292
Gene name	MutL homolog 1
Gene symbol	MLH1
Synonyms (NCBI Gene)	COCA2FCC2HNPCCHNPCC2LYNCH2MLH-1MMRCS1hMLH1
Chromosome	3
Chromosome location	3p22.2
Summary	The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introd

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SNP ID	Visualize variation	Clinical significance	Consequence
rs2020873	C>T	Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, missense variant
rs11541859	G>T	Pathogenic	Stop gained, intron variant, 5 prime UTR variant, coding sequence variant
rs28930073	G>C	Conflicting-interpretations-of-pathogenicity, risk-factor, benign-likely-benign, likely-benign, benign	5 prime UTR variant, missense variant, coding sequence variant
rs35001569	A>G,T	Benign-likely-benign, pathogenic, likely-benign	Intron variant, coding sequence variant, missense variant, stop gained
rs35502531	AA>GC	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign, benign	Intron variant, coding sequence variant, missense variant
rs41294980	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, benign, benign-likely-benign	Coding sequence variant, missense variant
rs41295282	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs41295284	T>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, missense variant
rs41542214	C>A,T	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant, stop gained
rs63749792	C>A,T	Likely-pathogenic, pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63749795	C>T	Pathogenic	Coding sequence variant, stop gained
rs63749818	C>A,G,T	Pathogenic, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant, stop gained
rs63749820	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs63749829	G>C,T	Pathogenic	Missense variant, stop gained, intron variant, coding sequence variant, 5 prime UTR variant
rs63749837	G>-	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63749845	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs63749859	T>C,G	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63749863	C>-,CC	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63749867	C>A,T	Pathogenic, likely-benign, uncertain-significance	Intron variant, coding sequence variant, synonymous variant, stop gained
rs63749868	ATAG>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63749876	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs63749887	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant
rs63749900	G>A,C,T	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63749909	T>A,C	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs63749916	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant, stop gained
rs63749923	C>T	Pathogenic	Coding sequence variant, stop gained
rs63749924	C>G,T	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63749926	C>-	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63749939	G>A,T	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63749944	A>-	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63749950	C>G,T	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63749956	->T	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63749959	AA>-,A,AAA	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63749965	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs63749979	T>-	Pathogenic	Intron variant, coding sequence variant, stop gained
rs63749981	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs63749986	G>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63749990	T>G	Likely-pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63749995	C>A,G,T	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant, stop gained
rs63750005	C>T	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750016	C>A,T	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63750020	->A	Pathogenic	Coding sequence variant, frameshift variant
rs63750028	AA>-,A,AAA	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750034	AA>-,A,AAA	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750035	AG>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750036	GG>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750052	TG>-	Pathogenic	Inframe indel, intron variant, coding sequence variant, stop gained, 5 prime UTR variant
rs63750059	T>A,C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs63750061	AAAAG>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750071	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750098	T>A	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750114	C>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic, benign-likely-benign, benign, likely-benign	Intron variant, coding sequence variant, missense variant, stop gained
rs63750115	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750131	CG>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750144	G>A,C	Likely-pathogenic, pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63750150	AT>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750152	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750192	C>T	Pathogenic	Coding sequence variant, stop gained
rs63750193	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs63750198	C>A,G,T	Pathogenic, uncertain-significance	Missense variant, stop gained, intron variant, coding sequence variant, 5 prime UTR variant
rs63750206	G>A,C,T	Pathogenic, pathogenic-likely-pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750211	A>G	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750212	->T	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750217	G>A,C	Likely-pathogenic, pathogenic, uncertain-significance, pathogenic-likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs63750266	G>A,C	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750268	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750271	A>C,G	Likely-pathogenic, benign, uncertain-significance	Coding sequence variant, missense variant
rs63750281	T>A,G	Likely-pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750282	->A	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750293	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750300	T>A,C,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs63750303	G>A,T	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750305	->TA	Pathogenic	Coding sequence variant, frameshift variant
rs63750309	TT>-,T	Pathogenic	Intron variant, coding sequence variant, frameshift variant, stop gained
rs63750310	C>G,T	Pathogenic	Stop gained, intron variant, coding sequence variant, synonymous variant, 5 prime UTR variant
rs63750316	C>T	Pathogenic	Coding sequence variant, stop gained
rs63750317	->T	Pathogenic	Coding sequence variant, stop gained
rs63750319	->A	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750339	C>-	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750361	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs63750365	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, uncertain-significance	Coding sequence variant, missense variant
rs63750375	CA>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750380	C>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750385	A>-,AA	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750386	A>C,T	Pathogenic	Intron variant, coding sequence variant, missense variant, stop gained
rs63750420	GTACATA>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750434	G>-	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750437	G>A,C	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750443	G>A,C,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs63750447	T>A	Benign-likely-benign, benign, likely-pathogenic	Coding sequence variant, missense variant
rs63750449	A>C,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign, benign, likely-benign	Intron variant, coding sequence variant, missense variant
rs63750453	G>A	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750464	->A	Pathogenic	Coding sequence variant, frameshift variant
rs63750469	AA>-	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750472	G>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750482	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750483	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs63750484	T>A	Pathogenic	Coding sequence variant, stop gained
rs63750486	TTG>-	Likely-pathogenic	Intron variant, coding sequence variant, inframe deletion
rs63750489	C>G,T	Pathogenic, uncertain-significance	Missense variant, stop gained, intron variant, coding sequence variant, 5 prime UTR variant
rs63750499	G>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs63750500	A>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs63750507	T>A,G	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs63750515	T>A,C,G	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant
rs63750527	G>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs63750533	A>-	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750539	C>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs63750540	A>T	Pathogenic	Coding sequence variant, stop gained
rs63750542	A>G,T	Pathogenic, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant, stop gained
rs63750547	T>C,G	Pathogenic, uncertain-significance	Missense variant, stop gained, intron variant, coding sequence variant, 5 prime UTR variant
rs63750549	G>A,T	Pathogenic, not-provided	Intron variant, coding sequence variant, missense variant, stop gained
rs63750561	G>A,C,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs63750584	T>A,C	Pathogenic	Intron variant, coding sequence variant, missense variant, stop gained
rs63750587	C>A	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63750603	G>A,C	Likely-pathogenic, pathogenic, uncertain-significance	Intron variant, coding sequence variant, synonymous variant, missense variant
rs63750604	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs63750610	C>G,T	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, missense variant
rs63750639	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs63750641	A>G	Likely-pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750642	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750645	C>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750650	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Intron variant, coding sequence variant, missense variant
rs63750658	->AA	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750663	G>T	Pathogenic	Intron variant, coding sequence variant, stop gained
rs63750677	C>-,CC	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750691	C>G	Pathogenic	Intron variant, coding sequence variant, stop gained
rs63750693	T>A,C	Pathogenic	Intron variant, coding sequence variant, missense variant
rs63750702	A>G	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63750710	A>C	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750713	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750715	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750726	C>T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs63750736	G>A,T	Pathogenic	Missense variant, stop gained, intron variant, coding sequence variant, 5 prime UTR variant
rs63750740	A>-,AA	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750748	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750749	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750764	T>-	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750769	TG>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750781	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs63750796	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Missense variant, stop gained, intron variant, coding sequence variant, 5 prime UTR variant
rs63750809	T>C,G	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63750819	->G	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750824	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750850	G>A	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750855	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs63750859	TC>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750865	G>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750866	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant
rs63750867	A>-,AA	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750876	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63750889	T>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs63750891	T>G	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750899	C>G,T	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63750903	GG>AT,CT	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, stop gained
rs63750906	A>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750908	->T	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750938	T>A,C	Pathogenic, likely-benign	Intron variant, coding sequence variant, synonymous variant, stop gained
rs63750948	T>C,G	Likely-pathogenic, pathogenic, not-provided, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750952	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750962	->GC	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750971	CA>-,CACA	Pathogenic	Coding sequence variant, frameshift variant
rs63750978	G>A	Pathogenic	Coding sequence variant, stop gained
rs63750993	A>C,G,T	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63751015	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs63751022	G>A	Pathogenic	Coding sequence variant, stop gained
rs63751045	->C	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs63751049	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, likely-pathogenic, likely-benign	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63751081	G>T	Pathogenic	Coding sequence variant, stop gained
rs63751083	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs63751087	C>G	Pathogenic	Coding sequence variant, stop gained
rs63751094	A>G,T	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63751101	TT>-,T,TTT	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63751109	C>A,G,T	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63751118	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs63751124	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs63751137	T>A,G	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, stop gained
rs63751153	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs63751194	C>A,G,T	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63751197	ATC>-	Likely-pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, inframe deletion
rs63751200	GA>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63751202	T>C,G	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63751221	C>T	Pathogenic	Stop gained, intron variant, coding sequence variant, synonymous variant, 5 prime UTR variant
rs63751225	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63751240	->A	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63751244	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs63751247	AAG>-	Pathogenic	Intron variant, coding sequence variant, inframe deletion
rs63751255	->A	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63751259	->A	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63751266	G>-	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63751275	C>A,G,T	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, synonymous variant, missense variant
rs63751277	C>T	Pathogenic	Coding sequence variant, stop gained
rs63751283	T>A,G	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63751301	GGGA>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63751302	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs63751310	C>T	Pathogenic	Intron variant, coding sequence variant, stop gained
rs63751393	C>G,T	Pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs63751415	T>C,G	Pathogenic, likely-benign	Intron variant, coding sequence variant, synonymous variant, stop gained
rs63751421	C>G,T	Pathogenic, uncertain-significance	Missense variant, stop gained, intron variant, coding sequence variant, 5 prime UTR variant
rs63751428	C>A,T	Pathogenic	Missense variant, stop gained, intron variant, coding sequence variant, 5 prime UTR variant
rs63751431	->AATC	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63751435	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs63751439	->AAGC	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63751448	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs63751460	C>T	Pathogenic	Coding sequence variant, stop gained
rs63751465	G>A,T	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63751467	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63751468	->A	Pathogenic	Coding sequence variant, frameshift variant
rs63751472	G>T	Pathogenic	Coding sequence variant, stop gained
rs63751480	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant, stop gained
rs63751486	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63751592	AAGA>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs63751594	TCTCTTT>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63751595	G>A,C,T	Likely-pathogenic, pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs63751596	G>A,C,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs63751597	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63751598	A>C,G	Pathogenic	Intron variant, coding sequence variant, missense variant
rs63751606	C>G,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, synonymous variant, stop gained
rs63751607	C>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs63751608	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs63751609	A>G	Pathogenic	Intron variant, coding sequence variant, missense variant
rs63751613	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs63751615	C>A,T	Pathogenic, likely-benign	Missense variant, stop gained, coding sequence variant, synonymous variant, 5 prime UTR variant
rs63751616	T>C	Pathogenic	Intron variant, coding sequence variant, missense variant
rs63751620	->T	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63751630	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs63751632	G>A	Pathogenic	Intron variant, coding sequence variant, synonymous variant
rs63751637	GA>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs63751639	GGAAA>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63751642	AGA>-	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, inframe deletion
rs63751651	AG>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs63751652	AGCA>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63751653	A>-,AA	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs63751657	G>A,C,T	Pathogenic, uncertain-significance	Coding sequence variant, synonymous variant
rs63751659	->T	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63751662	G>A,C,T	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, synonymous variant, missense variant
rs63751665	G>A,C,T	Likely-pathogenic, pathogenic, uncertain-significance, pathogenic-likely-pathogenic	Missense variant, intron variant, coding sequence variant, synonymous variant, 5 prime UTR variant
rs63751677	->A	Pathogenic	Coding sequence variant, frameshift variant
rs63751680	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs63751684	C>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign, benign	Intron variant, coding sequence variant, missense variant
rs63751685	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs63751689	->T	Pathogenic	Coding sequence variant, stop gained
rs63751691	GCTTTCGAGGTG>-	Likely-pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, splice donor variant, inframe deletion, initiator codon variant
rs63751704	A>-	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63751705	G>C,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs63751707	C>G,T	Likely-pathogenic, pathogenic, uncertain-significance	Intron variant, coding sequence variant, synonymous variant
rs63751709	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs63751710	AG>GTT	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs63751711	G>A,T	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs63751713	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63751715	G>A,C,T	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, synonymous variant, missense variant
rs117221851	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs143009528	A>C,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs146777069	C>A,T	Risk-factor, benign-likely-benign, uncertain-significance, likely-benign	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant, synonymous variant
rs147939838	C>A,G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs193922367	T>A	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs193922370	G>A,C,T	Pathogenic, likely-pathogenic	Splice acceptor variant, intron variant
rs199935667	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs201541505	C>A	Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant
rs201673334	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs202038499	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs267607699	->AAGT	Pathogenic	Coding sequence variant, frameshift variant
rs267607712	A>G,T	Pathogenic	Intron variant, splice acceptor variant
rs267607713	G>C	Pathogenic	Missense variant, splice acceptor variant, 5 prime UTR variant, coding sequence variant, intron variant
rs267607715	C>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, 5 prime UTR variant
rs267607716	A>C,G	Pathogenic	Intron variant, splice acceptor variant
rs267607717	G>A	Pathogenic	Intron variant, splice acceptor variant
rs267607718	G>A,T	Pathogenic, likely-pathogenic	Intron variant, splice donor variant
rs267607719	GT>-	Likely-pathogenic	Intron variant, splice donor variant
rs267607720	C>G,T	Pathogenic, likely-pathogenic	Intron variant
rs267607722	T>C,G	Pathogenic, likely-pathogenic	Intron variant, splice donor variant
rs267607723	AGAA>-	Pathogenic	Coding sequence variant, splice acceptor variant, intron variant, 5 prime UTR variant
rs267607725	G>A,C	Likely-pathogenic, uncertain-significance	Initiator codon variant, missense variant, 5 prime UTR variant, coding sequence variant, intron variant
rs267607726	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, synonymous variant, 5 prime UTR variant, coding sequence variant, intron variant
rs267607727	G>A,T	Likely-pathogenic	Missense variant, splice donor variant, 5 prime UTR variant, coding sequence variant, intron variant
rs267607728	C>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, 5 prime UTR variant
rs267607729	->A	Pathogenic	Coding sequence variant, intron variant, frameshift variant, 5 prime UTR variant
rs267607731	A>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs267607732	A>C,G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs267607734	G>A	Pathogenic	Intron variant, splice donor variant
rs267607735	G>A	Pathogenic	Intron variant
rs267607736	G>C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs267607738	->T	Pathogenic	Intron variant, splice donor variant
rs267607739	->A	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs267607742	T>A,C	Pathogenic, likely-pathogenic	Splice donor variant
rs267607743	A>G	Likely-pathogenic	Splice acceptor variant
rs267607744	G>A,C	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Splice acceptor variant
rs267607745	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs267607746	GCAAGTTACTCAGATGGAAAA>T	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs267607749	A>G	Likely-pathogenic	Intron variant
rs267607750	G>C,T	Pathogenic, likely-pathogenic	Splice donor variant
rs267607751	T>C,G	Pathogenic	Splice donor variant
rs267607753	A>G	Pathogenic, likely-pathogenic	Intron variant, splice acceptor variant
rs267607754	G>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, 5 prime UTR variant
rs267607755	T>A	Pathogenic	Coding sequence variant, intron variant, stop gained, 5 prime UTR variant
rs267607759	A>C,G	Pathogenic	Splice acceptor variant
rs267607760	A>G	Pathogenic	Intron variant
rs267607765	G>A,T	Pathogenic, likely-pathogenic	Intron variant, splice donor variant
rs267607767	A>C,G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs267607768	G>A,C	Pathogenic, uncertain-significance	Intron variant
rs267607771	G>A,T	Pathogenic	Intron variant
rs267607772	G>T	Pathogenic	Splice donor variant
rs267607773	G>-	Likely-pathogenic	Splice donor variant
rs267607774	AGTC>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs267607777	A>G	Pathogenic	Intron variant
rs267607778	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs267607779	G>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, splice donor variant
rs267607780	A>C,G,T	Pathogenic, likely-pathogenic	Intron variant
rs267607783	TA>-	Pathogenic	Intron variant, splice acceptor variant
rs267607784	G>A,C,T	Pathogenic, likely-pathogenic	Intron variant, splice acceptor variant
rs267607785	T>A,C	Likely-pathogenic, uncertain-significance	Intron variant
rs267607786	A>C,G,T	Likely-pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Intron variant
rs267607787	AATG>-	Pathogenic	Initiator codon variant, frameshift variant, 5 prime UTR variant, coding sequence variant, intron variant
rs267607788	T>G	Pathogenic, likely-pathogenic	Intron variant
rs267607789	G>A,C,T	Pathogenic, likely-pathogenic	Intron variant, splice donor variant
rs267607790	T>A,C	Pathogenic	Intron variant, splice donor variant
rs267607791	->T	Pathogenic	Intron variant, splice donor variant
rs267607792	A>T	Pathogenic	Intron variant
rs267607794	A>G,T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Intron variant, splice acceptor variant
rs267607795	G>A,C,T	Pathogenic, likely-pathogenic	Intron variant, splice acceptor variant
rs267607798	G>-	Pathogenic	Intron variant, splice donor variant
rs267607799	ATCG>-	Pathogenic	Coding sequence variant, splice acceptor variant, intron variant
rs267607801	ACTT>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs267607803	A>G	Pathogenic, likely-pathogenic, uncertain-significance	Intron variant
rs267607804	CTCT>-,CT	Benign, conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Intron variant
rs267607805	A>G,T	Pathogenic, likely-pathogenic	Intron variant, splice acceptor variant
rs267607806	T>C	Likely-pathogenic	Intron variant, splice donor variant
rs267607808	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, missense variant, 5 prime UTR variant
rs267607809	A>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, 5 prime UTR variant
rs267607815	A>C,G,T	Likely-pathogenic	Splice acceptor variant
rs267607816	G>A,C	Likely-pathogenic	Intron variant, splice donor variant
rs267607819	G>A,C	Pathogenic	Splice acceptor variant
rs267607821	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs267607822	->T	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs267607823	A>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs267607825	G>A,C,T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Splice donor variant
rs267607831	T>C,G	Likely-pathogenic	Splice donor variant
rs267607832	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs267607836	A>C,G,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs267607837	G>A,C,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs267607842	G>A	Pathogenic	Coding sequence variant, stop gained
rs267607844	C>A,G,T	Likely-pathogenic, uncertain-significance	Intron variant
rs267607845	G>A,T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Splice acceptor variant
rs267607849	CTCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs267607850	G>A	Pathogenic, likely-pathogenic	Intron variant
rs267607851	A>T	Likely-pathogenic	Intron variant
rs267607852	A>C,G,T	Pathogenic, likely-pathogenic	Intron variant, splice acceptor variant
rs267607853	G>A,C,T	Pathogenic, likely-pathogenic	Splice donor variant
rs267607854	G>A	Pathogenic	Intron variant, splice acceptor variant
rs267607856	T>C,G	Pathogenic, likely-pathogenic	Splice donor variant
rs267607866	G>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs267607867	G>A,T	Pathogenic, likely-pathogenic	Intron variant, splice donor variant
rs267607868	G>-	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant
rs267607869	T>C	Likely-pathogenic	Intron variant, splice donor variant
rs267607871	A>G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Intron variant, splice acceptor variant
rs267607873	TGAGG>C	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs267607875	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs267607877	A>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs267607878	G>A,C,T	Pathogenic, uncertain-significance	Intron variant
rs267607879	G>A,C,T	Pathogenic, likely-pathogenic	Intron variant, splice donor variant
rs267607881	AATTTCTTTGGACCA>-	Likely-pathogenic	Intron variant, splice acceptor variant
rs267607883	A>G	Pathogenic, likely-pathogenic	Intron variant, splice acceptor variant
rs267607884	G>A,C,T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Intron variant, splice acceptor variant
rs267607885	A>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs267607888	G>A,C,T	Pathogenic, likely-pathogenic	Intron variant, splice donor variant
rs267607889	A>G,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs267607892	->TGTT	Pathogenic	Terminator codon variant, frameshift variant, stop lost
rs267607893	C>A,G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, stop gained
rs267607894	T>A,C	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs267607896	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs267607897	GCAGCTTGCTA>-	Pathogenic	Coding sequence variant, frameshift variant
rs267607898	CACA>-,CA	Pathogenic	Coding sequence variant, frameshift variant
rs267607900	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs267607901	AA>-,A,AAAA	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs267607903	->AACA	Pathogenic	Coding sequence variant, frameshift variant
rs267607904	G>-	Likely-pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs267607906	A>C,G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs281864936	GAGA>-,GA	Pathogenic	Coding sequence variant, frameshift variant
rs281864938	C>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs369521379	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs370108219	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs370687064	G>A,C	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs377279035	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs377433038	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs397514684	T>C,G	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant, intron variant, 5 prime UTR variant
rs531873434	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs550890395	C>A,G,T	Uncertain-significance, benign-likely-benign, pathogenic, likely-benign	Synonymous variant, stop gained, intron variant, coding sequence variant
rs566928243	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs576724240	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs587778881	->G	Pathogenic	Intron variant, coding sequence variant, initiator codon variant, frameshift variant
rs587778883	A>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs587778884	GGAGATGG>-	Pathogenic	5 prime UTR variant, coding sequence variant, initiator codon variant, frameshift variant
rs587778885	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs587778887	GTC>A	Pathogenic	Coding sequence variant, frameshift variant
rs587778889	->A	Pathogenic	Coding sequence variant, frameshift variant
rs587778894	C>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs587778896	T>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, stop gained
rs587778898	->C	Pathogenic	Coding sequence variant, frameshift variant
rs587778899	->GTCAGCC	Pathogenic	Coding sequence variant, frameshift variant
rs587778900	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778903	CCAAAAATCAGAGCTTGGAGGG>ATTTT,NNNNN	Pathogenic	Coding sequence variant, frameshift variant
rs587778905	GGATACAACAAAGGGGACTTC>TAAA	Pathogenic	Coding sequence variant, frameshift variant
rs587778906	->G	Pathogenic	Coding sequence variant, frameshift variant
rs587778908	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778909	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778911	T>G	Likely-pathogenic	Splice donor variant
rs587778912	GACATCGGGAAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778913	C>G,T	Pathogenic, uncertain-significance	5 prime UTR variant, missense variant, coding sequence variant, intron variant, stop gained
rs587778914	A>C	Likely-pathogenic	5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs587778915	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778917	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs587778918	A>T	Pathogenic	Stop gained, coding sequence variant
rs587778919	GGAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778920	CAT>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, inframe deletion
rs587778922	->T	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, stop gained
rs587778923	AAGA>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs587778924	->T	Pathogenic	Coding sequence variant, frameshift variant
rs587778925	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778926	->T	Pathogenic	Coding sequence variant, frameshift variant
rs587778928	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778929	T>A	Pathogenic	Stop gained, coding sequence variant
rs587778930	TTC>-	Pathogenic, likely-pathogenic	Coding sequence variant, inframe deletion
rs587778931	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778932	GAGG>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs587778933	G>A	Pathogenic	Stop gained, coding sequence variant
rs587778934	->TTATA	Pathogenic	Coding sequence variant, frameshift variant
rs587778937	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs587778938	TAAATCA>ATTT	Pathogenic	Splice donor variant, intron variant
rs587778939	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778942	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778944	->A	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs587778946	AGATGGTCCCAAAGAAGGA>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778947	->T	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778948	->ACAT	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778949	A>TTCTT	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778950	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778953	CTTT>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778954	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778955	C>A,T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant, intron variant, synonymous variant
rs587778956	G>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778957	A>-,AA	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778958	->GATTACCCCTTCTG	Pathogenic, likely-pathogenic	Stop gained, intron variant, coding sequence variant, inframe indel
rs587778959	->ATTACCCCTTCTGATTGACAACTATGTGC	Pathogenic	Stop gained, intron variant, coding sequence variant, inframe indel
rs587778960	->T	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778961	->T	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778962	G>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778964	A>C,T	Likely-pathogenic, uncertain-significance	Missense variant, intron variant, coding sequence variant
rs587778966	->C	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs587778968	G>-,GG	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs587778971	G>T	Pathogenic, likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs587778972	T>C	Likely-pathogenic, uncertain-significance	Missense variant, intron variant, coding sequence variant
rs587778973	GA>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, splice acceptor variant
rs587778975	C>G,T	Pathogenic, uncertain-significance	Stop gained, intron variant, coding sequence variant, missense variant
rs587778976	A>G	Likely-pathogenic, uncertain-significance	Intron variant
rs587778978	G>A,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs587778979	GTGAAGTGCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778980	TGCCTGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778981	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778982	->GAACACATTGTCTATAAAGCCTTGCGCTCACACATTCTGCCTCCTAA	Pathogenic	Coding sequence variant, frameshift variant
rs587778983	A>C,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587778984	->T	Pathogenic	Coding sequence variant, frameshift variant
rs587778989	->A	Pathogenic	Coding sequence variant, frameshift variant
rs587778992	C>T	Pathogenic	Stop gained, coding sequence variant
rs587778997	G>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs587778998	A>G	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs587779006	TG>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs587779009	T>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs587779012	A>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs587779014	TGAA>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs587779015	A>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs587779018	T>-,TT	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, intron variant, stop gained
rs587779019	->GA	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs587779021	G>A,C	Pathogenic, likely-pathogenic, uncertain-significance	5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs587779022	G>A,C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs587779023	TTCTCAGTTAAAAAAGT>-	Likely-pathogenic	Splice donor variant, coding sequence variant, 5 prime UTR variant
rs587779024	T>A,G	Pathogenic, likely-pathogenic	Splice donor variant
rs587779026	GTTT>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs587779027	G>T	Likely-pathogenic	Splice acceptor variant
rs587779031	T>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs587779032	GG>AT	Pathogenic	Splice donor variant, coding sequence variant, 5 prime UTR variant
rs587779033	->T	Likely-pathogenic	Splice donor variant
rs587779034	G>A	Pathogenic, uncertain-significance	Intron variant
rs587779035	A>G	Pathogenic-likely-pathogenic, likely-pathogenic	Intron variant, splice acceptor variant
rs587779036	TTCTAATAGAGAACTGATAGAAATT>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, splice acceptor variant
rs587779037	GTTA>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs587779039	TCA>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, inframe deletion
rs587779041	TTAGATCGT>-	Pathogenic	Intron variant, coding sequence variant, splice acceptor variant
rs587779042	T>A	Likely-pathogenic	Intron variant
rs587779043	TCCTT>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587779047	AC>-,ACAC	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587779050	GGTA>-	Pathogenic	Splice donor variant, intron variant, coding sequence variant
rs587779052	C>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs587779054	T>A,C	Pathogenic, likely-benign, uncertain-significance	5 prime UTR variant, missense variant, coding sequence variant, intron variant, synonymous variant
rs587779055	A>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs587779058	C>T	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, stop gained
rs587779950	G>A,T	Likely-pathogenic	Intron variant, splice acceptor variant
rs587779954	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587780683	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs587781518	G>C	Pathogenic, likely-pathogenic	Intron variant
rs587781554	->A	Pathogenic, likely-pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs587781892	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs587782087	C>G,T	Pathogenic, uncertain-significance	5 prime UTR variant, missense variant, coding sequence variant, intron variant, stop gained
rs587782265	GCACATCGAGAGCA>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs730881734	AAGAAGA>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, splice acceptor variant
rs746536721	A>C,G	Likely-pathogenic	Splice acceptor variant
rs755073786	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, intron variant, synonymous variant
rs756099600	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs756843954	G>A,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs764085979	T>A,C	Pathogenic	Synonymous variant, intron variant, stop gained, coding sequence variant, 5 prime UTR variant
rs764120517	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant
rs773647920	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, initiator codon variant, 5 prime UTR variant, missense variant
rs786201990	->T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs786202326	TA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786202328	CTA>-	Likely-pathogenic	Intron variant, inframe deletion, coding sequence variant, 5 prime UTR variant
rs786202767	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786203456	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs786203893	TTCTAGTGGCAGGGCTA>-	Pathogenic	Frameshift variant, coding sequence variant
rs863223312	GTAAATCA>ATTT	Pathogenic	Splice donor variant, intron variant
rs863224480	AAAACCCTAGCCTTCAAAAT>-	Pathogenic	Intron variant, initiator codon variant, frameshift variant, 5 prime UTR variant, coding sequence variant
rs863225373	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs863225376	TA>-	Pathogenic	Frameshift variant, coding sequence variant
rs863225377	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs863225378	GG>ATCTGGACC	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs863225379	GTTGAGTTTCTGAA>T	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs863225380	->G	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs863225381	C>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs863225383	A>T	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs863225384	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs864622250	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs864622457	C>G	Likely-pathogenic	Stop gained, coding sequence variant
rs869244899	->C	Pathogenic	Frameshift variant, coding sequence variant
rs876658247	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, 5 prime UTR variant
rs876658339	A>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, 5 prime UTR variant
rs876658657	A>G	Likely-pathogenic, uncertain-significance	Missense variant, intron variant, coding sequence variant, 5 prime UTR variant
rs876658821	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs876658915	T>A,C	Likely-benign, pathogenic, uncertain-significance	Stop gained, coding sequence variant, synonymous variant
rs876658962	T>G	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs876659068	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs876659073	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs876659226	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs876659608	G>T	Pathogenic	Stop gained, coding sequence variant
rs876659681	->TT	Pathogenic, likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs876660214	T>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, 5 prime UTR variant
rs876660458	GTCTGGT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs876660589	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs876660822	A>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, 5 prime UTR variant
rs876660860	GA>T	Pathogenic, likely-pathogenic	Frameshift variant, intron variant, coding sequence variant, 5 prime UTR variant
rs876661059	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs876661159	C>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs878853777	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs878853778	->T	Pathogenic	Frameshift variant, coding sequence variant
rs878853780	T>C	Pathogenic-likely-pathogenic, likely-pathogenic	Splice donor variant
rs878853785	AT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs878853787	->A	Pathogenic	Stop gained, coding sequence variant
rs878853792	->A	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs878853794	->AG	Pathogenic	Frameshift variant, intron variant, coding sequence variant, 5 prime UTR variant
rs886039423	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs886039424	G>A,C	Pathogenic, uncertain-significance	Missense variant, intron variant, stop gained, coding sequence variant
rs983986337	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs1017112753	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs1057517541	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1057517543	AAGAAGATCTGGA>-	Likely-pathogenic	Splice acceptor variant, intron variant, 5 prime UTR variant, coding sequence variant
rs1057517617	GTATGG>-	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant
rs1057520517	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs1057520627	G>A,T	Pathogenic	Intron variant, missense variant, coding sequence variant, stop gained
rs1060500687	AA>A,AAA,G	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1060500688	G>-	Pathogenic	Intron variant, frameshift variant, 5 prime UTR variant, coding sequence variant
rs1060500689	C>G,T	Pathogenic, likely-benign	Stop gained, 5 prime UTR variant, synonymous variant, coding sequence variant
rs1060500692	GAGATGG>-	Pathogenic	Initiator codon variant, frameshift variant, 5 prime UTR variant, coding sequence variant
rs1060500698	T>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1060500699	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1060500702	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, 5 prime UTR variant, coding sequence variant
rs1060500703	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1060500706	G>-	Pathogenic	Stop gained, coding sequence variant
rs1060500707	->A	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1064793172	C>-	Pathogenic	Intron variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1064793173	TTAAATCCA>C	Pathogenic	Frameshift variant, coding sequence variant
rs1064793177	C>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1064793469	T>-	Pathogenic	Intron variant, frameshift variant, 5 prime UTR variant, coding sequence variant
rs1064793823	->GT	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1064794122	A>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1064794267	->AGTTA	Pathogenic	Frameshift variant, coding sequence variant
rs1064794331	->TGTGCCCC	Pathogenic, likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1064794348	TGTT>-	Pathogenic	Intron variant, frameshift variant, 5 prime UTR variant, coding sequence variant
rs1064794353	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064794373	C>-	Pathogenic	Intron variant, frameshift variant, 5 prime UTR variant, coding sequence variant
rs1064794612	AGAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064795441	T>-	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Intron variant, frameshift variant, 5 prime UTR variant, coding sequence variant
rs1064795515	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064795693	A>G	Likely-pathogenic	Intron variant, missense variant, 5 prime UTR variant, coding sequence variant
rs1064796057	C>G,T	Pathogenic, uncertain-significance	Stop gained, missense variant, 5 prime UTR variant, coding sequence variant
rs1114167435	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1248251121	G>A,C,T	Uncertain-significance, pathogenic	Coding sequence variant, intron variant, missense variant, 5 prime UTR variant, stop gained
rs1253275403	T>C,G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, intron variant
rs1302248679	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1304802474	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1305605404	T>C,G	Uncertain-significance, likely-pathogenic	Intron variant, coding sequence variant, synonymous variant, 5 prime UTR variant, missense variant
rs1416171624	G>A,T	Pathogenic, uncertain-significance	Missense variant, intron variant, coding sequence variant, stop gained
rs1434898623	G>A	Pathogenic	Splice donor variant
rs1437454428	G>A,T	Uncertain-significance, pathogenic	5 prime UTR variant, stop gained, missense variant, coding sequence variant
rs1466223609	G>C,T	Uncertain-significance, pathogenic	Missense variant, 5 prime UTR variant, intron variant, coding sequence variant, stop gained
rs1481129490	C>G,T	Pathogenic, likely-pathogenic	5 prime UTR variant, intron variant, coding sequence variant, synonymous variant
rs1482654951	G>C,T	Likely-pathogenic	5 prime UTR variant, missense variant, intron variant, coding sequence variant
rs1553638868	C>ATCTT	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553640314	GG>TT	Uncertain-significance, likely-pathogenic	Initiator codon variant, intron variant, 5 prime UTR variant, missense variant, coding sequence variant
rs1553640334	A>C	Likely-pathogenic	5 prime UTR variant, missense variant, intron variant, coding sequence variant
rs1553640340	T>G	Pathogenic	Splice donor variant, intron variant
rs1553641269	AGCCATGTGGCTCA>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1553641273	C>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1553641295	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1553641403	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1553642079	->T	Pathogenic, likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1553642492	TTTTTTTTTTTGAGACAAAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGTGTGATCTCAGCTCACTGCAATCACTACCTCTTGAGTTCAAGCAGTTGTCCTGCCTCAGCCTCTTGAGTACCTGGGATTACAGGCATGCGTCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCCACCCACCTTGGCCTCCCAA	Pathogenic	Splice donor variant, intron variant, splice acceptor variant, 5 prime UTR variant, coding sequence variant
rs1553642657	GGAGGACCTTTTTTACAACATAGCCACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTTGGCAGGT>-	Pathogenic	Splice donor variant, intron variant, splice acceptor variant, 5 prime UTR variant, coding sequence variant
rs1553642698	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553642707	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553642718	TA>C	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553642777	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553644024	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1553644123	C>G,T	Uncertain-significance, pathogenic	Stop gained, 5 prime UTR variant, missense variant, coding sequence variant
rs1553644155	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1553644194	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1553644277	T>C	Likely-pathogenic	Splice donor variant
rs1553645226	C>A,G	Pathogenic	5 prime UTR variant, stop gained, intron variant, coding sequence variant
rs1553645256	CTC>-	Pathogenic	Intron variant, 5 prime UTR variant, inframe indel, stop gained, coding sequence variant
rs1553645301	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553645331	->C	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553646602	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553646669	TAGAA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553646681	->CA	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553646764	G>A	Likely-pathogenic	Splice donor variant, intron variant
rs1553647795	GGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAG	Pathogenic	Splice acceptor variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553647894	G>A,C	Likely-pathogenic	Splice acceptor variant, intron variant
rs1553647928	CCCCAGAATGT>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553647947	TG>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553647969	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553647995	->C	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553648023	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553648029	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553648040	G>T	Pathogenic	5 prime UTR variant, stop gained, intron variant, coding sequence variant
rs1553648047	->GAGCA	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553648058	->CATCCTGGAGCGGGTGCAGCAGCACATCGAGAGCAAGCTCCTGGGCTCCAAT	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553648068	G>T	Pathogenic	5 prime UTR variant, stop gained, intron variant, coding sequence variant
rs1553648149	AAGC>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553648195	CAAT>AATGTGCA	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553648201	ATGTACTTCACCCAGG>-	Pathogenic, likely-pathogenic	Splice donor variant, initiator codon variant, intron variant, 5 prime UTR variant, coding sequence variant
rs1553648220	C>G,T	Likely-benign, likely-pathogenic	Synonymous variant, stop gained, intron variant, coding sequence variant
rs1553648225	C>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553650741	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553651073	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553651130	A>TAT	Pathogenic	Frameshift variant, coding sequence variant
rs1553651299	CA>TGCTGAAGTGGCT	Pathogenic	Frameshift variant, coding sequence variant
rs1553651429	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553652883	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553652930	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553653037	->CG	Pathogenic	Frameshift variant, coding sequence variant
rs1553653084	TT>A	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1553653115	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553653135	->TA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553653158	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553653195	C>G,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs1553653237	->G	Pathogenic	Splice donor variant, coding sequence variant
rs1553657971	->TA	Pathogenic	Frameshift variant, coding sequence variant
rs1553658009	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553658104	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553658246	G>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1553659334	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553659500	A>G	Pathogenic	Intron variant
rs1553662622	ACCGCTCTTTGACC>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553662753	T>G	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1553662800	->CCAGATAGTCCAGA	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553663159	T>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1553663750	TGATTGGATTACCC>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553663834	T>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553663981	AC>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553664119	T>C	Likely-pathogenic	Splice donor variant, intron variant
rs1553664353	AGGAA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553664436	A>G,T	Uncertain-significance, pathogenic, likely-pathogenic	Stop gained, missense variant, intron variant, coding sequence variant
rs1553664506	TCT>-	Likely-pathogenic	Intron variant, inframe deletion, coding sequence variant
rs1553664617	->G	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553664702	C>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1553665467	GA>TCTTATGACATCTAAT	Likely-pathogenic	Splice acceptor variant, coding sequence variant
rs1553665514	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1553665683	->TATAAAGCCTTGCGCTCACACATTCTGCCTC	Pathogenic	Inframe indel, stop gained, coding sequence variant
rs1553665866	G>T	Pathogenic	Stop gained, coding sequence variant
rs1553665977	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1553666143	->T	Pathogenic	Stop lost, terminator codon variant, frameshift variant
rs1559521039	AGAT>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1559524070	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1559524405	G>T	Pathogenic	5 prime UTR variant, stop gained, intron variant, coding sequence variant
rs1559530646	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1559539068	CG>GT	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1559539489	CCTATTTGCCCAAA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1559543768	A>C	Likely-pathogenic	5 prime UTR variant, missense variant, intron variant, coding sequence variant
rs1559544064	GGA>T	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1559544297	->AGCA	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1559551570	ACC>T	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1559553492	->TG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1559553501	C>T	Pathogenic	Stop gained, coding sequence variant
rs1559554339	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1559558071	AG>CC	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1559574795	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559575107	T>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1559575143	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559578422	A>C	Likely-pathogenic	Splice acceptor variant
rs1559588540	C>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1559591546	T>C	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1559597322	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1575413885	AACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTCCT>-	Pathogenic	5 prime UTR variant, splice acceptor variant, intron variant, coding sequence variant
rs1575414321	GAAAGGTTCACT>ATGTAAGG	Pathogenic	5 prime UTR variant, intron variant, stop gained, inframe indel, coding sequence variant
rs1575414387	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1575414904	->A	Pathogenic	5 prime UTR variant, initiator codon variant, frameshift variant, stop gained, intron variant, coding sequence variant
rs1575428643	->T	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1575441094	TAAGAA>GATC	Pathogenic	Splice donor variant, intron variant
rs1575448385	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1575449093	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1575449402	T>C,G	Pathogenic	Splice donor variant, intron variant
rs1575469070	C>-	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1575469505	->A	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1575481212	C>A	Pathogenic	5 prime UTR variant, stop gained, intron variant, coding sequence variant
rs1575535938	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1575536219	CAT>TG	Pathogenic	Frameshift variant, coding sequence variant
rs1575536254	->TGTCACAGAGGATAAGACAGAT	Pathogenic	Stop gained, inframe indel, coding sequence variant
rs1575536698	AG>C	Pathogenic	Frameshift variant, coding sequence variant
rs1575537843	C>A,T	Pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant
rs1575537933	G>T	Pathogenic	Stop gained, coding sequence variant
rs1575552157	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1575554246	GG>AA	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1575594377	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1575620443	TCTTTGACCTTGCC>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1575621386	A>CTT	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1575621506	->TG	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1575622163	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1575628928	GGTCAGTGA>-	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant
rs1575632112	->G	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1575632215	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1575639851	GG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1575640892	->AATA	Pathogenic	Frameshift variant, coding sequence variant
rs1575640960	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1575641243	CTGCCTGATCTA>-	Likely-pathogenic	Coding sequence variant, inframe deletion

103

Show/Hide all (103)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000461	hsa-miR-155-5p	Luciferase reporter assayWestern blotNorthern blot	20351277
MIRT000461	hsa-miR-155-5p	Luciferase reporter assayWestern blotNorthern blot	20351277
MIRT028566	hsa-miR-30a-5p	Proteomics	18668040
MIRT035519	hsa-miR-31-5p	Luciferase reporter assay	23539435
MIRT035519	hsa-miR-31-5p	Luciferase reporter assay	23539435
MIRT000461	hsa-miR-155-5p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	23715647
MIRT632147	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT632146	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT632145	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT632144	hsa-miR-7977	HITS-CLIP	23824327
MIRT632143	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT632142	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT632141	hsa-miR-3122	HITS-CLIP	23824327
MIRT632140	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT632139	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT632138	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT519304	hsa-miR-330-3p	PAR-CLIP	23446348
MIRT519303	hsa-miR-3065-5p	PAR-CLIP	23446348
MIRT519302	hsa-miR-6850-3p	PAR-CLIP	23446348
MIRT519301	hsa-miR-939-3p	PAR-CLIP	23446348
MIRT519300	hsa-miR-1234-3p	PAR-CLIP	23446348
MIRT519299	hsa-miR-7107-5p	PAR-CLIP	23446348
MIRT519298	hsa-miR-4793-3p	PAR-CLIP	23446348
MIRT519297	hsa-miR-1285-3p	PAR-CLIP	23446348
MIRT519296	hsa-miR-3187-5p	PAR-CLIP	23446348
MIRT519295	hsa-miR-5189-5p	PAR-CLIP	23446348
MIRT519294	hsa-miR-612	PAR-CLIP	23446348
MIRT519293	hsa-miR-6860	PAR-CLIP	23446348
MIRT519292	hsa-miR-661	PAR-CLIP	23446348
MIRT519291	hsa-miR-196a-3p	PAR-CLIP	23446348
MIRT519290	hsa-miR-7703	PAR-CLIP	23446348
MIRT462221	hsa-miR-302f	PAR-CLIP	23592263
MIRT462220	hsa-miR-7846-3p	PAR-CLIP	23592263
MIRT462219	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT462218	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT462217	hsa-miR-940	PAR-CLIP	23592263
MIRT462216	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT462215	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT462214	hsa-miR-1827	PAR-CLIP	23592263
MIRT462213	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT462212	hsa-miR-658	PAR-CLIP	23592263
MIRT462211	hsa-miR-1273e	PAR-CLIP	23592263
MIRT732260	hsa-miR-148b-3p	Luciferase reporter assayWestern blot	26759383
MIRT732260	hsa-miR-148b-3p	Luciferase reporter assayWestern blot	26759383
MIRT736981	hsa-miR-134-3p	MicroarrayImmunohistochemistry (IHC)	32170146
MIRT632147	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT632146	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT632145	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT632144	hsa-miR-7977	HITS-CLIP	23824327
MIRT632143	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT632142	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT632141	hsa-miR-3122	HITS-CLIP	23824327
MIRT632140	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT632139	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT632138	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT519304	hsa-miR-330-3p	PAR-CLIP	23446348
MIRT519303	hsa-miR-3065-5p	PAR-CLIP	23446348
MIRT519302	hsa-miR-6850-3p	PAR-CLIP	23446348
MIRT519301	hsa-miR-939-3p	PAR-CLIP	23446348
MIRT519300	hsa-miR-1234-3p	PAR-CLIP	23446348
MIRT519299	hsa-miR-7107-5p	PAR-CLIP	23446348
MIRT519298	hsa-miR-4793-3p	PAR-CLIP	23446348
MIRT519297	hsa-miR-1285-3p	PAR-CLIP	23446348
MIRT519296	hsa-miR-3187-5p	PAR-CLIP	23446348
MIRT519295	hsa-miR-5189-5p	PAR-CLIP	23446348
MIRT519294	hsa-miR-612	PAR-CLIP	23446348
MIRT519293	hsa-miR-6860	PAR-CLIP	23446348
MIRT519292	hsa-miR-661	PAR-CLIP	23446348
MIRT519291	hsa-miR-196a-3p	PAR-CLIP	23446348
MIRT519290	hsa-miR-7703	PAR-CLIP	23446348
MIRT462221	hsa-miR-302f	PAR-CLIP	23592263
MIRT462220	hsa-miR-7846-3p	PAR-CLIP	23592263
MIRT462219	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT462218	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT462217	hsa-miR-940	PAR-CLIP	23592263
MIRT462216	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT462215	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT462214	hsa-miR-1827	PAR-CLIP	23592263
MIRT462213	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT462212	hsa-miR-658	PAR-CLIP	23592263
MIRT462211	hsa-miR-1273e	PAR-CLIP	23592263
MIRT1150999	hsa-miR-1263	CLIP-seq
MIRT1151000	hsa-miR-208a	CLIP-seq
MIRT1151001	hsa-miR-208b	CLIP-seq
MIRT1151002	hsa-miR-3074-3p	CLIP-seq
MIRT1151003	hsa-miR-3149	CLIP-seq
MIRT1151004	hsa-miR-3617	CLIP-seq
MIRT1151005	hsa-miR-374a	CLIP-seq
MIRT1151006	hsa-miR-374b	CLIP-seq
MIRT1151007	hsa-miR-4781-3p	CLIP-seq
MIRT1151008	hsa-miR-499-5p	CLIP-seq
MIRT1151009	hsa-miR-568	CLIP-seq
MIRT1151010	hsa-miR-641	CLIP-seq
MIRT1151011	hsa-miR-642b	CLIP-seq
MIRT1151012	hsa-miR-892a	CLIP-seq
MIRT2272564	hsa-miR-1264	CLIP-seq
MIRT2272565	hsa-miR-142-5p	CLIP-seq
MIRT2272566	hsa-miR-340	CLIP-seq
MIRT2272567	hsa-miR-361-5p	CLIP-seq
MIRT1151005	hsa-miR-374a	CLIP-seq
MIRT1151006	hsa-miR-374b	CLIP-seq
MIRT1151009	hsa-miR-568	CLIP-seq
MIRT1151012	hsa-miR-892a	CLIP-seq

Show/Hide all (4)

Transcription factor	Regulation	Reference
BHLHE41	Repression	24165159
BRIP1	Unknown	24351291
CEBPZ	Repression	11704838
MAFG	Unknown	25219500

Show/Hide all (68)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000289	Process	Nuclear-transcribed mRNA poly(A) tail shortening	IEA
GO:0000712	Process	Resolution of meiotic recombination intermediates	IEA
GO:0000793	Component	Condensed chromosome	IEA
GO:0000794	Component	Condensed nuclear chromosome	IEA
GO:0000795	Component	Synaptonemal complex	IEA
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0002204	Process	Somatic recombination of immunoglobulin genes involved in immune response	IEA
GO:0003682	Function	Chromatin binding	IDA	26300262
GO:0003682	Function	Chromatin binding	IEA
GO:0003697	Function	Single-stranded DNA binding	IDA	11809883
GO:0005515	Function	Protein binding	IPI	2414623, 8942985, 11292842, 11427529, 11429708, 11793469, 12810663, 14676842, 16083711, 16189514, 16403449, 17581638, 17715146, 17967441, 19060904, 20533529, 20603015, 20603073, 20706999, 21516116, 21653829, 22252508, 22792074, 23585563, 25077178, 25416956, 25502805, 25910212, 26300
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IC	11809883
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:0005694	Component	Chromosome	ISS
GO:0005712	Component	Chiasma	IEA
GO:0005715	Component	Late recombination nodule	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006298	Process	Mismatch repair	IBA
GO:0006298	Process	Mismatch repair	IEA
GO:0006298	Process	Mismatch repair	IEA
GO:0006298	Process	Mismatch repair	IGI	23603115
GO:0006298	Process	Mismatch repair	TAS	8128251
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IEA
GO:0006950	Process	Response to stress	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007060	Process	Male meiosis chromosome segregation	IEA
GO:0007129	Process	Homologous chromosome pairing at meiosis	IEA
GO:0007131	Process	Reciprocal meiotic recombination	IEA
GO:0007140	Process	Male meiotic nuclear division	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008047	Function	Enzyme activator activity	IDA	17715146
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IEA
GO:0009617	Process	Response to bacterium	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016321	Process	Female meiosis chromosome segregation	IEA
GO:0016446	Process	Somatic hypermutation of immunoglobulin genes	IBA
GO:0016446	Process	Somatic hypermutation of immunoglobulin genes	IEA
GO:0016447	Process	Somatic recombination of immunoglobulin gene segments	IEA
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019899	Function	Enzyme binding	IPI	26300262
GO:0030983	Function	Mismatched DNA binding	IEA
GO:0031981	Component	Nuclear lumen	IEA
GO:0032137	Function	Guanine/thymine mispair binding	IEA
GO:0032300	Component	Mismatch repair complex	IEA
GO:0032389	Component	MutLalpha complex	IBA
GO:0032389	Component	MutLalpha complex	IEA
GO:0032407	Function	MutSalpha complex binding	IDA	16403449
GO:0043060	Process	Meiotic metaphase I homologous chromosome alignment	IEA
GO:0045132	Process	Meiotic chromosome segregation	IEA
GO:0045141	Process	Meiotic telomere clustering	IEA
GO:0045143	Process	Homologous chromosome segregation	IEA
GO:0045190	Process	Isotype switching	IEA
GO:0045950	Process	Negative regulation of mitotic recombination	IEA
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:0048477	Process	Oogenesis	IEA
GO:0051257	Process	Meiotic spindle midzone assembly	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0140664	Function	ATP-dependent DNA damage sensor activity	IEA

MIM	HGNC	e!Ensembl
120436	7127	ENSG00000076242

P40692

Protein name

DNA mismatch repair protein Mlh1 (MutL protein homolog 1)

Protein function

Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recrui

PDB

3RBN , 4P7A , 5U5P , 6WBA , 6WBB , 6WBC , 7M60

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13589	HATPase_c_3	25 → 138		Domain
PF01119	DNA_mis_repair	216 → 335	DNA mismatch repair protein, C-terminal domain	Family
PF16413	Mlh1_C	502 → 756	DNA mismatch repair protein Mlh1 C-terminus	Domain

Tissue specificity

TISSUE SPECIFICITY: Colon, lymphocytes, breast, lung, spleen, testis, prostate, thyroid, gall bladder and heart.

Sequence

MSFVAGVIRRLDETVVNRIAAGEVIQRPANAIKEMIENCLDAKSTSIQVIVKEGGLKLIQ
IQDNGTGIRKEDLDIVCERFTTSKLQSFEDLASISTYGFRGEALASISHVAHVTITTKTA
DGKCAYRASYSDGKLKAPPKPCAGNQGTQITVEDLFYNIATRRKALKNPSEEYGKILEVV
GRYSVHNAGISFSVKKQGETVADVRTLPNASTVDNIRSIFGNAVSRELIEIGCEDKTLAF
KMNGYISNANYSVKKCIFLLFINHRLVESTSLRKAIETVYAAYLPKNTHPFLYLSLEISP
QNVDVNVHPTKHEVHFLHEESILERVQQHIESKLLGSNSSRMYFTQTLLPGLAGPSGEMV
KSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTDIS
SGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVE
MVEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWAL
AQHQTKLYLLNTTKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEE
DGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLLIDNYVPPLEGLPIFILRL
ATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIV
YKALRSHILPPKHFTEDGNILQLANLPDLYKVFERC

Sequence length

756

Interactions

View interactions

	KEGG		Reactome
	Platinum drug resistance Mismatch repair Fanconi anemia pathway Pathways in cancer Colorectal cancer Endometrial cancer Gastric cancer		Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) Defective Mismatch Repair Associated With MLH1 Defective Mismatch Repair Associated With PMS2 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 (32)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Adrenal cortex carcinoma	Likely pathogenic	rs63750144	RCV004813189	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast and/or ovarian cancer	Pathogenic	rs63751615, rs587778913, rs63750855, rs63751657, rs2085487528	RCV003149572 RCV001270940 RCV001270941 RCV003492410 RCV001270942	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast carcinoma	Likely pathogenic; Pathogenic	rs2081922847, rs63750726	RCV001554268 RCV001554328	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast-ovarian cancer, familial, susceptibility to, 1	Pathogenic	rs267607760	RCV005861046	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carcinoma of colon	Pathogenic; Likely pathogenic	rs2125757477, rs2125808812, rs2125879653, rs2125879720, rs2125886267, rs2125943381, rs2125984594, rs267607867, rs2148522538, rs1060500698, rs587780683, rs1553640314, rs63751247, rs63751194, rs1553637475 View all (39 more)	RCV001356809 RCV001355701 RCV001357219 RCV001355122 RCV001356088 View all (51 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cervical cancer	Likely pathogenic; Pathogenic	rs267607784	RCV005897319	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon cancer	Pathogenic; Likely pathogenic	rs63750781, rs63750691, rs1114167435, rs1553641362, rs1434898623, rs587779018, rs63751657, rs63750547	RCV003229801 RCV000677880 RCV000490700 RCV004698344 RCV000677882 RCV000677884 RCV001580146 RCV000677881 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colonic neoplasm	Pathogenic	rs587778967, rs267607789	RCV001644559 RCV001646997	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer, hereditary nonpolyposis, type 2	Pathogenic; Likely pathogenic	rs267607755, rs2125884574, rs2125886267, rs267607867, rs267607816, rs2125693612, rs2125693787, rs1575440595, rs2125887070, rs2125901597, rs2125957824, rs2471430754, rs2125985283, rs2125990255, rs2125991131 View all (707 more)	RCV003449990 RCV003449994 RCV003449998 RCV003449997 RCV003450048 View all (833 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial carcinoma	Likely pathogenic; Pathogenic	rs2125710774, rs267607772, rs2125943327, rs2471181009, rs63750781, rs63750855, rs63751711, rs267607789	RCV001354327 RCV001354775 RCV001358360 RCV003128177 RCV001353627 RCV003128138 RCV003128139 RCV003128140 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs63750453, rs1064793607, rs587779001, rs267607815, rs267607711, rs267607825, rs267607834, rs63750028, rs267607871, rs1553647888	RCV005931945 RCV005355926 RCV005357453 RCV005357455 RCV005370206 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial colorectal cancer	Likely pathogenic	rs2085261656	RCV001171464	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Pathogenic; Likely pathogenic	rs2471012741, rs2471013311, rs1553653158, rs587782087, rs63751101, rs147542208, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047	RCV003164613 RCV003164614 RCV003159726 RCV003159730 RCV003159981 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glioma susceptibility 1	Pathogenic	rs267607789	RCV005890449	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary breast ovarian cancer syndrome	Likely pathogenic; Pathogenic	rs267607732, rs63750217, rs267607871	RCV004794378 RCV005251042 RCV005638419	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2125710774, rs267607772, rs2125992965, rs587778911, rs2125693612, rs2125887070, rs2125902896, rs2125957824, rs2125985283, rs2125986083, rs2125990255, rs267607883, rs2125693080, rs2125958437, rs2125957613 View all (874 more)	RCV002384494 RCV004036720 RCV002420774 RCV002395859 RCV005403066 View all (1059 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary nonpolyposis colon cancer	Likely pathogenic; Pathogenic	rs267607816, rs2471430754, rs2125984944, rs2125773395, rs2125903643, rs2125885422, rs587782265, rs267607712, rs786202767, rs863225378, rs876658657, rs878853785, rs2471183536, rs2471502728, rs2471049378 View all (53 more)	RCV002242785 RCV004701064 RCV001582358 RCV001779436 RCV001797872 View all (67 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary nonpolyposis colorectal carcinoma	Likely pathogenic	rs1209098685	RCV002508981	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary nonpolyposis colorectal neoplasms	Pathogenic; Likely pathogenic	rs2084805279, rs2125710774, rs267607755, rs267607867, rs267607816, rs587778911, rs2125693612, rs2125693787, rs2125711087, rs2125711616, rs2125711634, rs1575440595, rs2125822944, rs2125823340, rs2125823466 View all (588 more)	RCV001324069 RCV002548498 RCV003759047 RCV002548511 RCV001379462 View all (701 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited MMR deficiency (Lynch syndrome)	Likely pathogenic; Pathogenic	rs267607732, rs63750781, rs63750217, rs2471178941, rs63751221, rs1481129490, rs63749795, rs63749900, rs63751022, rs267607894, rs267607749, rs63751711, rs63751598, rs63751197	RCV006277756 RCV004584176 RCV005865086 RCV005865706 RCV006277661 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung cancer	Pathogenic	rs63751707	RCV005890452	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lynch syndrome	Pathogenic; Likely pathogenic	rs2125805231, rs2125693612, rs587781518, rs587781554, rs267607712, rs2470672531, rs41542214, rs267607819, rs2470675868, rs2148512428, rs267607795, rs863224480, rs863225383, rs63750059, rs267607832 View all (484 more)	RCV001356007 RCV004006849 RCV000491027 RCV000781543 RCV000780423 View all (563 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lynch syndrome 1	Pathogenic; Likely pathogenic	rs2125694105, rs1209098685, rs267607900, rs63749818, rs876658657, rs878853785, rs2083411159, rs2471502067, rs63751247, rs63751615, rs63750781, rs63751194, rs63750693, rs63750978, rs63751448 View all (73 more)	RCV001849899 RCV002463850 RCV000206724 RCV001804961 RCV000624023 View all (85 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lynch-like syndrome	Likely pathogenic; Pathogenic	rs267607786, rs63751247, rs63751615, rs63750781, rs267607765, rs63751596, rs63750540, rs63751221, rs1416171624, rs1553664702, rs72481822, rs587778978, rs1575552157, rs1553638767, rs267607816 View all (36 more)	RCV001249935 RCV001249999 RCV001249951 RCV001249927 RCV001249946 View all (47 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of urinary bladder	Pathogenic	rs267607717, rs267607795	RCV005890443 RCV005890450	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mismatch repair cancer syndrome 1	Likely pathogenic; Pathogenic	rs2125837110, rs2471123248, rs63750547, rs2085322101, rs2471501187, rs63751247, rs63751615, rs63750206, rs63750781, rs63750899, rs63750217, rs121912965, rs63751194, rs1060500699, rs63751596 View all (22 more)	RCV002484405 RCV005397393 RCV005397406 RCV004796730 RCV005397421 View all (33 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MLH1-related disorder	Pathogenic; Likely pathogenic	rs876658247, rs2471178193, rs1553638767, rs267607815, rs63749795, rs267607843, rs63751657, rs63749868, rs63749986, rs63750726, rs63751275, rs267607894, rs63750792	RCV003907829 RCV003404693 RCV004726921 RCV003390766 RCV004748554 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
	Pathogenic; Likely pathogenic	rs63751199, rs2125837110, rs2471461031, rs2471123248, rs63750547, rs1434898623, rs2085322101, rs2471501187, rs63751247, rs63751615, rs63750781, rs63750217, rs63751194, rs1060500699, rs1064795441 View all (45 more)	RCV001799562 RCV002484405 RCV002250116 RCV005397393 RCV005397406 View all (56 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neoplasm	Likely pathogenic	rs63749792	RCV006273096	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs267607856	RCV005901231	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of the head and neck	Likely pathogenic; Pathogenic	rs63750453, rs267607744, rs587779034	RCV005931946 RCV005900932 RCV005890448	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs267607718	RCV005890442	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (43)

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; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bile duct cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood neoplasm	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ 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 5	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer, non-polyposis	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer, sporadic, susceptibility to	Benign	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
CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BREAST CARCINOMA	—	ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY NON-POLYPOSIS COLON CANCER TYPE 2	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inherited ovarian cancer (without breast cancer)	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYNCH SYNDROME 2	—	GenCC, HPO GenCC, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lynch syndrome 5	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYNCH SYNDROME II	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT PANCREATIC NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely 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
Ovarian cancer	Conflicting classifications of pathogenicity; Likely benign	ClinVar GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OVARIAN NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary peritoneal carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHABDOMYOSARCOMA	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TURCOT SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (558)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	14510941, 15944788, 19767099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	11301392, 11306499, 12118112, 12384516, 12808058, 14657958, 15064707, 15382050, 15735977, 16557577, 16619216, 16937450, 16984616, 17204027, 17316416 View all (19 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	11474654, 12384516, 16619216, 16984511, 16984616, 17316416, 18161865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	12139636, 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	20815811, 31116268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21093954, 22865300, 25823662		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	14506639		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	11306456, 11313962, 11710827, 12448010, 12641777, 15709190, 15712188, 15842592, 16336454, 16699497, 16771955, 16902913, 17143260, 17276933, 17278092 View all (20 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	18306971, 19423536, 22361441, 23328702		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	11606402, 12740349, 14749686, 15194222, 15475941, 15840612, 15964509, 16181380, 16890597, 17620311, 17636402, 18451217, 21836485, 22395475, 22886683 View all (7 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Adenomatous Polyposis	BEFREE	12591727, 16820927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	16394087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	37745701	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	15944788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	12592341		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	17959715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	15682421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agnosia	Agnosia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alveolar Soft Part Sarcoma	Alveolar Sarcoma	BEFREE	14562278, 16328670		★★★★★ ★☆☆☆☆ 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
Angelman Syndrome	Angelman syndrome	Pubtator	28473583	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Angiofibroma	Angiofibroma	BEFREE	16965334		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	11592777, 14726676, 18451217, 19109866, 19351759, 19761686, 20052760, 20444249, 20967208, 25341111, 36983044, 39778225	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	27938333	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	23029359, 24165159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	36717525, 37200008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anus Neoplasms	Anus neoplasm	Pubtator	36128324	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	15367334	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	15746058, 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
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	10550333, 12079302, 14614055, 17089036		★★★★★ ★☆☆☆☆ 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
Azoospermia	Azoospermia	Pubtator	18583429, 22594646	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	22594646, 27868267		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	11999575		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	11999575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	11301392, 19048617, 29972732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	29972732	Associate	★★★★★ ★☆☆☆☆ 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	Benign Neoplasm	BEFREE	30261191		★★★★★ ★☆☆☆☆ 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	19364498, 21348638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	11223838, 17465213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	12107841, 15471559, 17465213, 29360550	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	11161395, 12712438, 18562223, 20591884, 22927776, 25319978, 28848075, 29362915		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	16685411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	11691925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	LHGDN	11691925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	11691925	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bowen's Disease		Pubtator	34590599	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	28466842	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	15161053, 19995443, 8592341	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	23414134, 25648859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	39910726	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	10337989, 17389002		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	11094302, 14520695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	CLINGEN_DG	11112663, 18049911, 22331944, 23091106, 26101330, 28418444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10709098, 10845276, 11369138, 11385712, 11477562, 14576472, 14717755, 15583422, 15890247, 15958648, 15993273, 17390069, 17959715, 18329696, 18701435 View all (20 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Carcinoma	Breast Carcinoma	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Diseases	Breast disease	Pubtator	34261476	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10098729, 11112663, 16756717, 17959715, 18701435, 19016758, 19644562, 20717847, 23164213, 23755158, 23852586, 24884479, 26527317, 27902704, 28229982 View all (13 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23755158	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cancer of Urinary Tract	Urinary Tract Cancer	BEFREE	24122742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	10037723, 10550333, 12115348, 14688830, 16607377, 18470905, 18615680, 19494183, 20653064, 21709441, 23240038, 24518125, 30430425, 31209889, 31554352, 34936649, 37657688, 38003003, 9657101 View all (4 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10418831, 10446111, 10766168, 10815898, 10861474, 11127266, 11140703, 11306456, 11391585, 11422806, 11496321, 11710827, 11809901, 11872960, 11918085 View all (60 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	25712765	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 Endometrioid	Endometrioid carcinoma	Pubtator	10746679, 16323174, 21709441, 23599155, 29210800, 31855955, 32060377, 33256706, 37380216	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	11332201, 12592365, 15918183, 17690210, 22144422, 33082400, 35853969, 9657101	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	18370958	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of endometrium	Endometrial carcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	20056007	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	18370958	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	18594535	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Medullary	Medullary carcinoma	Pubtator	14657958, 24437456	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	26981779, 37350641	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of ampulla of Vater	Ampullary Carcinoma	BEFREE	31256008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	11161395, 12712438, 18562223, 20591884, 22927776, 25319978, 28848075, 29362915		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	17201183, 23787767		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15382050, 15605365, 16061855, 17870204, 18594535, 19956916, 21093954, 21229606, 25252909, 26759383, 26987333, 28214209, 31207149, 31232917, 31579968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	17595760, 24936796, 25192888	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	23029359, 26226846, 32113160, 35205366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	12496483, 24874052, 25528216	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	22865300, 29973234, 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	BEFREE	14506639, 21709441, 23599155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	LHGDN	14631366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	10327053, 10577927, 12014680, 12736115, 12805408, 14601090, 15240532, 15328194, 16361634, 17595760, 18405947, 19032668, 19603033, 21140452, 22249249 View all (10 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	28512763		★★★★★ ★☆☆☆☆ 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
Celiac Disease	Celiac disease	BEFREE	15466202, 21042749		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	38139220	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	10769651, 11586036		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	15812832, 18161865, 19885927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	10769651, 11586036, 19885927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	15944788, 16039715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	24186137	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	30127888		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosomal Instability	Chromosomal instability	Pubtator	16501564, 17474983, 17476321, 17724798, 20052760, 25314065	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, 16053658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	LHGDN	12592341		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clear Cell Sarcoma of Soft Tissue	Sarcoma	BEFREE	16619000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	18223333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	10673298, 9230812	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10213232, 10213489, 11221878, 11245474, 11385712, 11416201, 11604984, 11729109, 11857087, 11935297, 11996796, 12036916, 12231545, 12591727, 14574010 View all (68 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	23246972, 36983044	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	12957287, 15375803, 15735976, 16106253, 17914563, 18615680		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic neoplasm	Pubtator	14657958, 16356174, 29976631	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	BEFREE	14695993, 15256438, 15551255, 17116713, 17636402, 20444249, 24503755, 28224663, 7585651, 7641183, 8044777, 9041175		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic neoplasm	Pubtator	15249596, 17203532, 19995443, 21457162, 23414134, 23469219, 23729658, 23958088, 24518125, 25908636, 28819720, 29672549, 29929473, 30387329, 30613919, 31116268, 37887553, 39724851 View all (3 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	25043185		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Polyps	Colonic polyps	Pubtator	18214062, 23246972, 27930579	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal cancer, hereditary nonpolyposis, type 1	Colorectal Cancer	CLINVAR_DG	14517962		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10070967, 10190329, 10232580, 10323887, 10343885, 10378595, 10386556, 10411935, 10418831, 10433009, 10446111, 10468602, 10471384, 10507723, 10535979 View all (463 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG	10598809, 10882759, 12132870, 12655564, 14504054, 15184898, 18033691, 8872463, 9032648, 9087566, 9611074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CLINVAR_DG	18205192, 20020535, 22753075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	18497967, 18718023, 18949393		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10323887, 10389971, 10411935, 10468602, 10507723, 10535979, 10544224, 10639144, 10673298, 10732761, 10734209, 10793088, 10896919, 10922385, 10978352 View all (323 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	10337989, 12384516, 12808326, 17080293, 17309645, 17389002, 18097574, 19423536, 20305446, 24100870, 27639802, 31779681, 9041175, 9850081		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	11782355, 12177781, 12203784, 12627505, 12808326, 14508843, 14688830, 14726676, 14871813, 14985405, 15583832, 15816455, 15996210, 16106253, 16331552 View all (34 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11851879, 14508843, 29950348, 37350751	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	18497967, 18718023, 18949393		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	10037723, 10051005, 10507723, 10712226, 10934138, 11112663, 11231323, 11416201, 11570578, 11574484, 11733361, 11854906, 11925604, 12057899, 12404277 View all (287 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	16423994, 22017758, 22321913, 30723092, 32102509	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	29587389, 8808596	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	11996796, 16464797		★★★★★ ★☆☆☆☆ Found in Text Mining only
Constitutional Mismatch Repair Deficiency Syndrome	Constitutional Mismatch Repair Deficiency Syndrome	CLINGEN_DG	10763829, 11389087, 11809679, 14762794, 15139004, 15340263, 17440981, 18593904, 22692065, 9500552, 9927033, 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
Constitutional Mismatch Repair Deficiency Syndrome	Constitutional Mismatch Repair Deficiency Syndrome	BEFREE	21674763, 24122200, 28562508, 30721949		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12496483, 18325052, 22378480, 25528216, 31259424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	11532035, 14657958, 18223333, 9230812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	LHGDN	12011151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	9230812	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing syndrome	Pubtator	28701629	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	12696065, 15832775, 25026000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	Pubtator	25252713	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermoid Cyst	Dermoid Cyst	BEFREE	30502217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31546260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31546260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	29990590	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29990590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	11187904, 12592341, 21156845		★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	14681306	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Duodenitis	Duodenitis	Pubtator	24518818	Associate	★★★★★ ★☆☆☆☆ 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
Dystonic Disorders	Dystonia	Pubtator	23621208	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	10072435, 10323887, 10550333, 10585582, 10728595, 10746679, 10938395, 10999752, 11054716, 11306449, 11333868, 11391585, 11801550, 11920650, 11956307 View all (125 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	CGI_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	10550333, 11291077, 12801268, 14668545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	10550333, 30430425, 34499134, 37386498	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	12801268	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	10323887, 10550333, 10746679, 12115348, 12732731, 14504054, 15118395, 15937084, 16323174, 16701802, 16928264, 17003396, 17177835, 19494183, 20034658 View all (70 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	BEFREE	11291077, 9041175		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	14508843, 17987798, 18559504, 18624996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	14508843, 16343186, 35595431	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrioid carcinoma ovary	Ovarian endometrioid carcinoma	BEFREE	14631366, 24018808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	12402310, 24018808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Partial with Variable Foci	Progressive myoclonic epilepsy	Pubtator	10861263	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	10577927, 15240532, 17595760, 19032668, 19603033, 23047549, 24114859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	14633667, 26782688, 28693258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Diseases	Esophageal Diseases	BEFREE	16724696		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Diseases	Esophageal Diseases	LHGDN	16724696		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	14633667, 28693258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	23244153, 26683359, 37009661	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophagitis	Esotropia	Pubtator	21045259, 22870241	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 multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	28440661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	19671858, 21865299, 23530059, 23779253		★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	19671858, 21865299, 23530059, 23779253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrous skin tumor of tuberous sclerosis	Adenoma sebaceum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Folate Malabsorption Hereditary	Hereditary folate malabsorption	Pubtator	34502300	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	30773532, 8698331		★★★★★ ★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	29529236		★★★★★ ★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	24971578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	15870882, 16309194, 17084965, 17465213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	17465213, 31068195, 33328484	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gardner Syndrome	Gardner Syndrome	BEFREE	29845239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	11350605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric lymphoma	Gastric lymphoma	BEFREE	17852707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	14507661, 23716983	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	LHGDN	15904475, 17509026		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	27116958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	16724696		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	10896919, 14601090, 31358837	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	14601090		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	LHGDN	18094436		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	18271923, 31273885		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	31273885	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	12823347	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Genital Neoplasms, Female	Genital Neoplasms, Female	BEFREE	16937235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	22147429		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gestational trophoblastic disease	Hydatidiform mole	BEFREE	15338238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	10734316, 17440981, 19300472, 20223108, 21425258, 24259277, 24325908, 24995467, 28371827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24105770, 24259277, 28371827, 28912153, 32193690, 34848827	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	10734316, 15331927, 15672285, 17440981, 19300472, 20223108, 21425258, 24259277, 24325908, 24995467, 28371827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	12025942, 17525680, 25646660		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	24723567	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	19603033	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	16569647, 9568786		★★★★★ ★☆☆☆☆ 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, 20412120	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	15944788, 16685411, 9057658, 9927033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	LHGDN	15944788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	30275527, 30721949		★★★★★ ★☆☆☆☆ 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 only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	10098729, 25712765, 32019277, 32039725, 33484353, 33630411	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	BEFREE	10954253, 17935271, 19383374, 23666231, 25712765		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	BEFREE	10585582, 20177793, 23555086, 8938136		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Malignant Neoplasm	Hereditary cancer	BEFREE	12115503, 16872788, 26761715, 29107668, 31697235, 31779681		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Non-Polyposis Colon Cancer Type 2	Colorectal Cancer	CLINVAR_DG	10037723, 10480359, 11139242, 11208710, 11555625, 11726306, 11781295, 12070261, 12183410, 12386821, 12547705, 12658575, 12891553, 14512394, 15300854 View all (74 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Non-Polyposis Colon Cancer Type 2	Colorectal Cancer	CLINGEN_DG	10037723, 16341550, 16873062, 27329137, 7892206, 8145827, 8581513, 9490293, 9500552		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Non-Polyposis Colon Cancer Type 2	Colorectal Cancer	UNIPROT_DG	10323887, 10375096, 10386556, 10413423, 10480359, 10598809, 10627141, 10660333, 10671064, 10713887, 10777691, 10882759, 11139242, 11427529, 11726306 View all (45 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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	CTD_human_DG	25077178		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Non-Polyposis Colon Cancer Type 2	Colorectal Cancer	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary non-polyposis colorectal cancer syndrome	Hereditary nonpolyposis colorectal cancer	ORPHANET_DG	23100212, 26149658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	10037723, 10080925, 10086635, 10200055, 10220145, 10375096, 10378595, 10386556, 10397236, 10404064, 10418831, 10432927, 10446963, 10464596, 10480359 View all (498 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	CLINVAR_DG	10037723, 10082584, 10323887, 10422993, 10448273, 10480359, 10495924, 10713887, 10732761, 10777691, 10874307, 10882759, 10995807, 11093816, 11112663 View all (184 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	CTD_human_DG	14756672, 20020535, 21064154, 22102614, 25701956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	ORPHANET_DG	23100212, 26149658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary nonpolyposis colorectal carcinoma	Hereditary nonpolyposis colorectal cancer	BEFREE	10537275, 11221877, 11391585, 12067992, 12124320, 15619215, 15918206, 16015629, 17260015, 7713503, 7812952, 8649412		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	CLINVAR_DG	10037723, 10200055, 10422993, 10480359, 10521294, 10534773, 10598809, 1061282, 10612827, 10732761, 10777691, 10874307, 10923051, 10985134, 11112663 View all (217 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	11782355, 11857745, 12095971, 12402334, 12938096, 15062061, 15200905, 15216397, 15571801, 15782118, 15786548, 16143124, 16234028, 16341550, 16724012 View all (9 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	14756672, 20020535, 21064154, 22102614, 25701956		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	16963262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Pancreatitis	Pubtator	32113160	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	BEFREE	21154739		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	17959715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	17959715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	24204323, 26232222, 28934397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	26232222, 38498709	Associate	★★★★★ ★☆☆☆☆ 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
Hypersensitivity Immediate	Hypersensitivity	Pubtator	31686413	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	Pubtator	34545858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	12712483, 15643505		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	18706547	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	18706547, 22594646	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	10987299, 15626886, 18200512, 9230812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	9230812	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	19567531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Cancer	Intestinal Cancer	BEFREE	20840074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	31937549	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	11126362, 8387880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	19181186	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal polyposis	Pubtator	16469793, 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
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	20969633, 26713412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	14506736, 15617839, 16773692, 24186137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	10709098, 14717755		★★★★★ ★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	18200512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	21625944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratosis pilaris	Keratosis pilaris	BEFREE	11910346		★★★★★ ★☆☆☆☆ 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 neoplasm	Laryngeal neoplasm	BEFREE	14767526		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	15083191, 17641416	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	14767526, 15083191, 23787767		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	38003003	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10468860, 12529664, 16341812, 17889038, 19767099, 30275527, 30721949, 9057658, 9927033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	17889038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	18056700, 19052983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	9057658	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Lymphoid	Lymphoid leukemia	Pubtator	9057658	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	11972518, 17959715, 20671427, 23349304, 31638252	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12529664, 15309527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	12529664, 15309527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	15682421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	LHGDN	17219447		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	20969633		★★★★★ ★☆☆☆☆ Found in Text Mining only
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	BEFREE	15288293		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	12118324, 21075045, 23727610		★★★★★ ★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	15551306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	35002543	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11050047, 11230735, 11494037, 12592365, 12619064, 14656944, 15918183, 16172101, 20112070, 21091774, 9657101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	12592365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	24186137	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17870204, 18594535		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23539435, 31232917, 37147951, 37838086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	28214209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	27492607	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	15890247, 19032668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	18470905, 24415879, 26191250, 28230037	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	9057658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10824932, 11496300, 12823347, 14574005, 29892060, 30275527, 30721949, 9057658		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	LHGDN	11999575		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	CTD_human_DG	15700306		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma Follicular	Lymphoma	Pubtator	25596266	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	10824932, 11187904, 25596266		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	10404064, 12667026, 14635101, 15528793, 15993273, 16143124, 16181381, 16341804, 16361634, 16541406, 16821093, 16826164, 16908935, 17003395, 17192056 View all (266 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lynch Syndrome	Lynch Syndrome	CTD_human_DG	14756672, 20020535, 21064154, 22102614, 25701956		★★★★★ ★★★★★ 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)
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Central Nervous System Neoplasm	Malignant neoplasm of the central nervous system	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	17613548, 18481196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	21598002		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant genitourinary tract tumor	Genitourinanry Tract Tumors	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	16569647, 9568786		★★★★★ ★☆☆☆☆ 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 brain	Brain Neoplasms	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10709098, 10845276, 11369138, 11385712, 11477562, 14576472, 14717755, 15890247, 15958648, 15993273, 17390069, 17959715, 18329696, 18701435, 19671858 View all (18 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, 11306449, 11920650, 11956307, 12060851, 12079302, 12175698, 12732731, 12792767, 14504054, 14614055, 14961575, 15017620, 15033666 View all (60 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	14633667, 28693258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	14527906, 17465213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	10498885, 14762794, 16937235, 17011982, 18094436, 22022465, 22883484, 23155252, 31358837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	14767526, 17201183, 23787767		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	22144422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15382050, 15605365, 16061855, 17870204, 18594535, 19956916, 21093954, 21229606, 25252909, 26759383, 26987333, 28214209, 31207149, 31232917, 31579968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	12118324, 21075045		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	10327053, 12014680, 12736115, 12805408, 14601090, 15316055, 15328194, 16361634, 18405947, 19032668, 21140452, 22249249, 23047549, 23677535, 26275295 View all (5 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	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	10938395, 21660619, 22110720, 23715647, 28591715, 29053185, 29922827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11398174, 11444857, 12684669, 15026333, 16963262, 19364498, 20056646, 25117503, 25526032, 25938433, 27013479, 27803051, 30681994, 31811435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	15583422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of sigmoid colon	Sigmoid Cancer	BEFREE	23112559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	10070967, 10393852, 10404093, 10495421, 11313962, 11350605, 11668499, 11870538, 11935297, 12132870, 12163364, 12679904, 12746473, 12964042, 14517582 View all (35 more)		★★★★★ ★☆☆☆☆ 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 thyroid	Thyroid cancer	BEFREE	28230037, 28757314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	11161395, 12712438, 18562223, 19522860, 20591884, 22927776, 25319978, 28848075, 29362915		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10037723, 10190329, 10378595, 10397236, 10432927, 10468860, 10470424, 10471527, 10573010, 10585582, 10667595, 10739686, 10861263, 10954253, 10993958 View all (214 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	10769651, 11586036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10213232, 10824932, 11221878, 11245474, 11385712, 11416201, 11604984, 11729109, 11857087, 11935297, 12036916, 12231545, 12414815, 12591727, 14574010 View all (81 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	25043185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CLINVAR_DG	25420488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	29656536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	10206076, 10709098, 15890247, 22992699, 23695190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16756717, 19016758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	11999575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marginal Zone B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	17852707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	10987299, 11140703, 11150376, 11213834, 11376026, 11535705, 11861399, 12118112, 12627520, 12692837, 15138486, 15138928, 16106253, 16760302, 17545526 View all (6 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	10793075, 14657958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	LHGDN	18992917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11205295, 11241897, 11409565, 12696065, 14714570, 15161053, 15619215, 15832775, 16619000, 16619529, 18460031, 19741564, 7987639		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	12696065, 14714570, 15161053, 15832775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	15526363, 15832775, 16619000, 16619529	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	15832775	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	22930430, 28705114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	22930430, 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
Mitochondrial Diseases	Mitochondrial disease	Pubtator	31641109	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	10086635, 10535567, 11859205, 12139636, 12641777, 17323113, 18236172, 21550136, 22814321, 25213213, 28165350, 28323777, 9349329, 9634524		★★★★★ ★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	16607377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	16048395	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	23539450, 35143042	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	12448010, 12469183, 14760116, 15812832, 16984616, 23648460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	LHGDN	17316416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muir-Torre syndrome	Muir-Torre Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	BEFREE	16607377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	16607377	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	14632210	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	30861523		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	16685411, 27436342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	8698331		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	12632081, 17201146		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	17201146	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm of skeletal system	Neoplasm of skeletal system	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10070967, 10072435, 10232580, 10323887, 10327053, 10344733, 10382540, 10393852, 10404063, 10418831, 10432927, 10446963, 10468602, 10470113, 10498885 View all (540 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	10037723, 10082584, 10196371, 10323887, 10375096, 10422993, 10448273, 10480359, 10495924, 10534773, 10564582, 10713887, 10734316, 10874307, 10882759 View all (283 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	BEFREE	16951683, 21769135, 25200962, 26781822, 27363726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	17440981		★★★★★ ★☆☆☆☆ 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	11496300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	22586144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	16341812, 9927034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	14762794, 15139004, 16341812, 17889038, 9927033, 9927034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	Pubtator	17440981, 17889038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	12632081		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	18583429, 27868267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	10815881, 10945633, 12639995, 12841866, 15583832, 16061855, 18594535, 18646042, 19056144, 19856662, 19956916, 22865300, 23504373, 23539435, 24205245, 27287342, 29205508, 9650548 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	26282643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obstructive azoospermia	Obstructive azoospermia	BEFREE	16192718, 27868267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	BEFREE	29476681		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	22594646, 28983945, 31342644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	38050610	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian adenocarcinoma	Ovarian adenocarcinoma	BEFREE	8674066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	14601090, 15328194		★★★★★ ★☆☆☆☆ 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 Diseases	Ovarian diseases	Pubtator	20072951, 26657901	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian dysgenesis	Ovarian Dysgenesis	BEFREE	22665589		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	10327053, 11753956, 12014680, 12736115, 12805408, 16361634, 18405947, 19032668, 21140452, 22249249, 23047549, 23677535, 26275295, 28772289, 31150525, 31570444, 7987639, 8824498 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	12014680, 15240532, 18405947, 19175039		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	19032668		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	10408835, 10577927, 11238060, 11477138, 11592780, 14601090, 14631366, 16080527, 16773633, 16879751, 16941012, 18405947, 18723338, 20072951, 22144422 View all (14 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	10938395, 11306499, 21660619, 22110720, 23715647, 28591715, 29053185, 29922827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Carcinoma	Pancreatic cancer	Pubtator	34895278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	14501508, 19237629, 21212431, 22331944, 24534469, 24802709, 25479140, 26440929, 27449771, 27732944, 27856273, 28767289, 29053185, 29922827, 32113160 View all (6 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	12127404, 18470905, 29229408		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	BEFREE	22395475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	16394087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Phyllodes Tumor	Phyllodes Tumor	BEFREE	11266524		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	28701629	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	32606442	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	24518125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	BEFREE	16771955, 17573746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	CLINVAR_DG	25420488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	BEFREE	16963262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11398174, 11444857, 12684669, 16963262, 19364498, 20056646, 21348638, 25526032, 25938433, 27803051, 30681994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	11112663, 20056646, 25111183, 27013479, 30636012, 31953835, 34388386, 35638715, 35666082, 36922933, 37196219, 37283096, 38458890	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12684669, 18005136		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	15583422		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25938433, 32384491	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pterygium	Pterygium	BEFREE	17457197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	10433009, 10471527, 10713887, 15300804, 16184469, 16521201, 17636402, 18851982, 22776788, 23358792, 23573243, 24793746, 9559626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	BEFREE	17636402		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent Brain Neoplasm	Brain Neoplasms	BEFREE	26778701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12496483, 16328670, 18325052, 22156295, 22378480, 31259424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	12496483, 12496484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	15452042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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, 15643505, 26295973		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	12712483, 39778225	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	LHGDN	14562278		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	CLINVAR_DG			★★★★★ ★★☆☆☆ 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	31337882	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	27077911	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sebaceous Adenocarcinoma	Sebaceous Adenocarcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sebaceous Gland Neoplasms	Sebaceous gland neoplasms	Pubtator	16826164, 19028998, 19069357, 29718441	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	30396964, 30519050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	15467433, 22068818		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	22068818	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren-Larsson Syndrome	Sjogren-Larsson Syndrome	BEFREE	26648449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	10594728, 15662714	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	10594728, 15662714, 16965334		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	11069471, 11859205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	14767526, 15382050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	37147951	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	37838086	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small intestine carcinoma	Small Intestinal Carcinoma	BEFREE	17939062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	10098729, 12173039, 15890247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	10999751, 11859205, 12118324, 12713560, 16918138, 19818066, 20969633, 22865300, 23504373, 24360395, 25047469, 25598504		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	LHGDN	12605036, 12713560, 14555508, 14767526, 15083191, 17219447, 17711772, 18053639, 18331286		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	12376481, 12713560, 16231369, 16256791, 18199718, 23244153, 28454461, 29156846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	15083191, 17219447, 19742317, 20412120, 22246327, 22748449, 26213212, 33501557, 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, 15382050		★★★★★ ★☆☆☆☆ 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, 12075230, 12509964, 12605036, 15635575, 19742317, 19786217, 20412120, 21353335, 22246327, 31651887, 9820170		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	21029181, 26598538		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	12712483, 15643505		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stickler syndrome, type 1	Stickler syndrome	BEFREE	19777566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	10393852, 10404093, 11350605, 11422806, 11496321, 11935297, 12132870, 12163364, 12508345, 12588445, 12679904, 12746473, 12964042, 14517582, 14556664 View all (37 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	10861474, 11313962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	10896919, 10980110, 11140703, 11870538, 11935297, 12163364, 12508345, 12679904, 12695555, 12746473, 14556664, 15133479, 15309712, 15831994, 15918206 View all (37 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	11935297, 15583832, 16086119, 18202787, 18265677		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26371427	Inhibit	★★★★★ ★☆☆☆☆ 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
synovial sarcoma	Synovial sarcoma	LHGDN	16329043		★★★★★ ★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	30721949		★★★★★ ★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	15296997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Teratoma Ovarian	Ovarian teratoma	Pubtator	27938333	Associate	★★★★★ ★☆☆☆☆ 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	16309235, 38285100	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	22068818	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	26295973	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	18470905, 33574476	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	23414134, 28230037, 28757314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	25576899	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	21358597	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	23414134, 28230037, 28757314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	16827152, 23414134, 28230037, 28757314, 31006665	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Torre-Muir syndrome	Torre-Muir Syndrome	BEFREE	10815898, 12139636, 16826164, 17323113, 18065960, 18236172, 18270343, 19998059, 21550136, 23672746, 25197397, 26143115, 7616541, 9046882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Torre-Muir syndrome	Torre-Muir Syndrome	CLINVAR_DG	11726306, 16083711, 17510385, 17594722, 20533529, 21120944, 21404117, 22753075, 22949387, 23403630, 24362816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Torre-Muir syndrome	Torre-Muir Syndrome	ORPHANET_DG	15235030, 25006859, 25197397		★★★★★ ★☆☆☆☆ 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	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	8387880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32449246	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	10360646, 10408835, 10748159, 11376026, 16343186, 18061181, 18787700, 19156169, 20473912, 20655395, 21242281, 22692065, 24323032, 25305506, 25341111 View all (42 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Turcot syndrome	Turcot syndrome	Pubtator	16299036, 16309235, 19069357, 21694772, 29329588, 30643016, 31765263, 32384491, 32804882, 34545179, 35373289, 35596001, 37679002, 37699372, 38378964	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	10070967, 10360646, 10408835, 10734316, 10824932, 11213834, 11319759, 11389087, 11440966, 11601928, 11606402, 12386821, 14695993, 15254659, 15254735 View all (46 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	CLINGEN_DG	10763829, 11389087, 11809679, 14762794, 15139004, 15340263, 17440981, 18593904, 22692065, 9500552, 9927033, 9927034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	UNIPROT_DG	11427529, 17440981, 7661930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	CLINVAR_DG	11726306, 16083711, 17510385, 17594722, 20533529, 21120944, 21404117, 22753075, 22949387, 23403630, 24362816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	GENOMICS_ENGLAND_DG	17440981, 23788249, 24362816, 9927033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	ORPHANET_DG	20442441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	10673298, 15626886, 15704157, 17276933, 18200512, 18223333, 19371218, 9230812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	LHGDN	12011151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	23648460		★★★★★ ★☆☆☆☆ 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, 16619569, 21599969, 22331944, 22927776, 24289605, 28848075, 29362915, 34964002	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic neoplasm	Pubtator	37798659	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	16619569, 19368958, 24874052, 27174960, 27713421, 31844177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	35682732	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	29806603, 37657688, 8922624	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	10550333	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	22940821	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	27915441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Warburg Sjo Fledelius syndrome	Warburg micro syndrome	Pubtator	15138486	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	17412712, 19671858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	35436013	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MLH1 (mutL homolog 1)