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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	4625
Gene name	Myosin heavy chain 7
Gene symbol	MYH7
Synonyms (NCBI Gene)	CMD1SCMH1CMYO7ACMYO7BCMYP7ACMYP7BMPD1MYHCBSPMDSPMM
Chromosome	14
Chromosome location	14q11.2
Summary	Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in norm

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SNP ID	Visualize variation	Clinical significance	Consequence
rs2069544	G>A,C,T	Likely-benign, conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant, synonymous variant
rs2754158	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs2856897	C>A,G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs3218713	C>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs3218714	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs3218716	C>A,G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs4981473	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs36211715	C>A,G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs36211716	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant, synonymous variant
rs45478699	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs45496496	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs45516091	G>A	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs45611033	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs113186231	C>G,T	Likely-pathogenic, uncertain-significance	Splice donor variant
rs113392527	C>A,G,T	Likely-pathogenic	Splice acceptor variant
rs121913624	C>A,G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913625	G>A,C,T	Pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913626	C>A,G,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913627	C>A,G,T	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913628	C>G,T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs121913629	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913630	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913631	G>C	Pathogenic	Missense variant, coding sequence variant
rs121913632	C>A,G,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913633	C>T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs121913634	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs121913636	A>C	Pathogenic	Missense variant, coding sequence variant
rs121913637	G>A	Pathogenic	Missense variant, coding sequence variant
rs121913638	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913639	C>T	Pathogenic	Missense variant, coding sequence variant
rs121913640	A>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913641	C>G,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913642	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913643	G>A,C	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs121913644	G>A	Pathogenic, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs121913645	C>T	Pathogenic	Missense variant, coding sequence variant
rs121913646	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913651	C>T	Pathogenic	Missense variant, coding sequence variant
rs121913653	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs138049878	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs139506719	C>T	Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Coding sequence variant, synonymous variant
rs141414377	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs141735183	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs145532615	A>G	Benign, benign-likely-benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs148808089	G>A	Uncertain-significance, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs149840927	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs192722540	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs193922387	TCT>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, inframe deletion
rs193922388	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs199552354	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs200129563	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs201012865	T>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs201860580	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs202141173	C>T	Pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs267606908	T>C	Pathogenic	Coding sequence variant, missense variant
rs267606910	C>T	Pathogenic-likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs267606911	C>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-benign, likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs367543053	T>C	Pathogenic, uncertain-significance	Stop lost, terminator codon variant
rs369490861	G>A,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant
rs371898076	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs372731424	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs376754645	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs376897125	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs377491278	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs397515482	A>C	Pathogenic	Coding sequence variant, missense variant
rs397516087	A>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516088	C>A,G,T	Pathogenic-likely-pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516089	C>G,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516092	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516095	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs397516097	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs397516098	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs397516101	C>A,G,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516103	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs397516110	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516115	C>A,T	Likely-pathogenic, likely-benign	Synonymous variant, coding sequence variant, missense variant
rs397516121	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs397516122	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs397516123	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs397516127	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397516128	A>G	Pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516130	A>G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516132	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs397516134	C>A,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516135	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516138	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs397516139	C>G,T	Likely-pathogenic, pathogenic, likely-benign	Synonymous variant, coding sequence variant, missense variant
rs397516142	C>A,G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516149	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516150	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs397516152	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs397516153	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397516154	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516155	TCT>-	Uncertain-significance, likely-pathogenic	Inframe deletion, coding sequence variant
rs397516156	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs397516157	A>C,G,T	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs397516160	G>A,C	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs397516161	T>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs397516165	C>G,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516166	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs397516171	C>G,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs397516172	CTC>-	Likely-pathogenic, pathogenic	Inframe deletion, coding sequence variant
rs397516178	C>A,G,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516183	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs397516209	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs397516212	C>A,T	Pathogenic, likely-pathogenic, likely-benign	Synonymous variant, coding sequence variant, missense variant
rs397516224	G>-	Uncertain-significance, likely-pathogenic	Frameshift variant, coding sequence variant
rs397516237	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs397516238	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs397516258	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs397516259	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs397516260	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516262	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs397516264	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs397516265	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs397516268	T>A,C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs397516269	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs397516272	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs564101364	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs587780395	G>A,C,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs587781089	G>A,C	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, synonymous variant
rs587782961	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs587782962	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs606231315	C>T	Likely-pathogenic	Splice acceptor variant
rs606231316	T>A	Pathogenic	Coding sequence variant, missense variant
rs606231318	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs606231319	G>T	Pathogenic	Coding sequence variant, missense variant
rs606231321	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs606231322	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs606231323	G>T	Pathogenic	Coding sequence variant, missense variant
rs606231324	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs606231328	T>C	Pathogenic	Coding sequence variant, missense variant
rs606231329	A>C	Pathogenic	Splice donor variant
rs606231331	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs606231332	A>C,G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs606231334	C>A,T	Pathogenic	Splice acceptor variant
rs606231335	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs606231337	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs606231340	C>T	Pathogenic	Coding sequence variant, missense variant
rs727503252	C>T	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs727503253	G>A	Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs727503254	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs727503258	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727503260	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727503261	A>G,T	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs727503263	G>A	Likely-pathogenic, uncertain-significance, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs727503264	T>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs727503265	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs727503266	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs727503269	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727503271	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs727503272	C>A,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs727503274	T>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs727503276	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs727503277	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs727503278	G>A,C,T	Likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs727504236	T>C	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs727504237	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs727504238	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs727504239	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504240	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs727504241	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504267	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs727504272	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs727504273	T>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs727504274	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504280	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs727504283	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504294	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs727504299	G>A,C,T	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs727504310	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs727504311	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504336	AT>-	Uncertain-significance, likely-pathogenic	Coding sequence variant, frameshift variant
rs727504356	C>A,G	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504409	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs727504558	T>A,C,G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs727504753	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs727504925	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs727505132	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs727505202	A>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880154	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880158	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880159	T>A,C,G	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs730880160	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880161	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880731	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880733	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880734	C>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs730880736	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880741	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880742	T>A,C,G	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880743	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880745	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880747	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880748	C>G	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs730880749	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880750	G>A,C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880753	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880754	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880756	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs730880757	C>A,G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880758	T>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880759	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs730880760	T>C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880761	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs730880763	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880764	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880765	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880766	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs730880768	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730880769	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880773	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880826	C>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs730880832	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880833	A>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880836	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880837	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880842	T>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880843	T>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880846	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730880847	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880849	A>G	Pathogenic	Coding sequence variant, missense variant
rs730880850	C>T	Likely-pathogenic, pathogenic	Splice donor variant
rs730880853	C>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880855	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880856	C>G,T	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880857	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880859	A>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880863	A>G	Pathogenic	Coding sequence variant, missense variant
rs730880864	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880868	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880869	T>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880870	C>A,T	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs730880872	A>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880875	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs730880876	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880878	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880883	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880884	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730880887	CCT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs730880888	GA>TT	Likely-pathogenic	Coding sequence variant, missense variant
rs730880894	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880895	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880896	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880898	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880901	T>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880902	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880903	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs730880920	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880921	G>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880922	A>C	Likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs730880927	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730880929	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880930	T>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs758891557	T>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs760187215	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs765279420	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs765458590	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs772488436	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs863224900	A>C,G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs863225095	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs863225097	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs863225098	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs863225099	CCT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs863225100	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs863225101	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs863225102	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs863225103	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs868789318	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs869025477	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs876657887	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs878853842	G>T	Pathogenic	Coding sequence variant, missense variant
rs886038901	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs886039030	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs886039185	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886039204	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs934278063	A>C,G	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1057517771	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057517773	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1057519221	C>T	Likely-pathogenic	Splice acceptor variant
rs1057520814	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524857	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1060501432	A>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1060501436	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1060501439	T>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1060501443	A>G	Pathogenic	Missense variant, coding sequence variant
rs1060501448	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1060501452	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1060505018	C>A,G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1064793206	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796729	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064797184	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1085307959	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691514	C>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1131691562	T>C	Pathogenic	Missense variant, coding sequence variant
rs1131691577	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691685	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1173617248	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1224554825	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs1427104281	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1555337794	A>G	Pathogenic	Coding sequence variant, missense variant
rs1555337846	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555337916	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555338080	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555338254	CCT>-	Uncertain-significance, likely-pathogenic	Inframe deletion, coding sequence variant
rs1555338578	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555338658	A>C	Uncertain-significance, likely-pathogenic	Splice donor variant
rs1566530698	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1566531303	A>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1566531421	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1566533919	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1566535410	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1566536418	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1566536436	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1566537070	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1595081779	CCT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1595084560	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1595084583	G>T	Pathogenic	Missense variant, coding sequence variant

Show/Hide all (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IBA
GO:0000146	Function	Microfilament motor activity	IDA	15621050
GO:0000146	Function	Microfilament motor activity	IMP	16088376
GO:0000146	Function	Microfilament motor activity	NAS	3021460
GO:0000166	Function	Nucleotide binding	IEA
GO:0001725	Component	Stress fiber	IEA
GO:0002026	Process	Regulation of the force of heart contraction	IDA	15621050
GO:0002027	Process	Regulation of heart rate	IDA	15621050
GO:0003009	Process	Skeletal muscle contraction	IMP	7883988
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	17192269, 20847312, 25416956, 32296183
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005859	Component	Muscle myosin complex	TAS	2249844, 3021460
GO:0006936	Process	Muscle contraction	IDA	15621050
GO:0006936	Process	Muscle contraction	TAS	15856146
GO:0006941	Process	Striated muscle contraction	IDA	15621050
GO:0007512	Process	Adult heart development	IBA
GO:0007512	Process	Adult heart development	IMP	15856146
GO:0014728	Process	Regulation of the force of skeletal muscle contraction	IMP	7883988
GO:0014883	Process	Transition between fast and slow fiber	IEA
GO:0014898	Process	Cardiac muscle hypertrophy in response to stress	IEA
GO:0016459	Component	Myosin complex	IEA
GO:0016459	Component	Myosin complex	TAS	12933792
GO:0016460	Component	Myosin II complex	IBA
GO:0016460	Component	Myosin II complex	IEA
GO:0030016	Component	Myofibril	IEA
GO:0030016	Component	Myofibril	ISS
GO:0030017	Component	Sarcomere	IEA
GO:0030017	Component	Sarcomere	ISS
GO:0030017	Component	Sarcomere	TAS	16754800
GO:0030018	Component	Z disc	IEA
GO:0030049	Process	Muscle filament sliding	IBA
GO:0030049	Process	Muscle filament sliding	IMP	8514894, 16088376
GO:0031449	Process	Regulation of slow-twitch skeletal muscle fiber contraction	IMP	7883988
GO:0032982	Component	Myosin filament	IBA
GO:0032982	Component	Myosin filament	IDA	19336582
GO:0032982	Component	Myosin filament	IEA
GO:0046034	Process	ATP metabolic process	IDA	15621050
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IMP	15856146, 16754800
GO:0060048	Process	Cardiac muscle contraction	IBA
GO:0060048	Process	Cardiac muscle contraction	IMP	7883988
GO:0099512	Component	Supramolecular fiber	IEA

MIM	HGNC	e!Ensembl
160760	7577	ENSG00000092054

P12883

Protein name

Myosin-7 (Myosin heavy chain 7) (Myosin heavy chain slow isoform) (MyHC-slow) (Myosin heavy chain, cardiac muscle beta isoform) (MyHC-beta)

Protein function

Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction. Forms regular bipolar thick filaments that, together with actin thin filaments, constitute the fundamental contractile unit of skeletal and cardiac mu

PDB

2FXM , 2FXO , 3DTP , 4DB1 , 4P7H , 4PA0 , 4XA1 , 4XA3 , 4XA4 , 4XA6 , 5CHX , 5CJ0 , 5CJ1 , 5CJ4 , 5TBY , 5WJ7 , 5WJB , 5WLQ , 5WLZ , 5WME , 6PF2 , 6PFP , 8ACT , 8EFD , 8EFE , 8EFH , 8EFI , 8ENC , 8G4L , 8ZB7 , 8ZI9 , 9GZ1 , 9GZ2 , 9GZ3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02736	Myosin_N	34 → 73	Myosin N-terminal SH3-like domain	Domain
PF00063	Myosin_head	87 → 766	Myosin head (motor domain)	Domain
PF01576	Myosin_tail_1	843 → 1924	Myosin tail	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Both wild type and variant Gln-403 are detected in skeletal muscle (at protein level). {ECO:0000269|PubMed:8514894}.

Sequence

MGDSEMAVFGAAAPYLRKSEKERLEAQTRPFDLKKDVFVPDDKQEFVKAKIVSREGGKVT
AETEYGKTVTVKEDQVMQQNPPKFDKIEDMAMLTFLHEPAVLYNLKDRYGSWMIYTYSGL
FCVTVNPYKWLPVYTPEVVAAYRGKKRSEAPPHIFSISDNAYQYMLTDRENQSILITGES
GAGKTVNTKRVIQYFAVIAAIGDRSKKDQSPGKGTLEDQIIQANPALEAFGNAKTVRNDN
SSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAERDYHIFYQILSNKKPELLDM
LLITNNPYDYAFISQGETTVASIDDAEELMATDNAFDVLGFTSEEKNSMYKLTGAIMHFG
NMKFKLKQREEQAEPDGTEEADKSAYLMGLNSADLLKGLCHPRVKVGNEYVTKGQNVQQV
IYATGALAKAVYERMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSFEQLCINF
TNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLQACIDLIEKPMGIMSILEEECMF
PKATDMTFKAKLFDNHLGKSANFQKPRNIKGKPEAHFSLIHYAGIVDYNIIGWLQKNKDP
LNETVVGLYQKSSLKLLSTLFANYAGADAPIEKGKGKAKKGSSFQTVSALHRENLNKLMT
NLRSTHPHFVRCIIPNETKSPGVMDNPLVMHQLRCNGVLEGIRICRKGFPNRILYGDFRQ
RYRILNPAAIPEGQFIDSRKGAEKLLSSLDIDHNQYKFGHTKVFFKAGLLGLLEEMRDER
LSRIITRIQAQSRGVLARMEYKKLLERRDSLLVIQWNIRAFMGVKNWPWMKLYFKIKPLL
KSAEREKEMASMKEEFTRLKEALEKSEARRKELEEKMVSLLQEKNDLQLQVQAEQDNLAD
AEERCDQLIKNKIQLEAKVKEMNERLEDEEEMNAELTAKKRKLEDECSELKRDIDDLELT
LAKVEKEKHATENKVKNLTEEMAGLDEIIAKLTKEKKALQEAHQQALDDLQAEEDKVNTL
TKAKVKLEQQVDDLEGSLEQEKKVRMDLERAKRKLEGDLKLTQESIMDLENDKQQLDERL
KKKDFELNALNARIEDEQALGSQLQKKLKELQARIEELEEELEAERTARAKVEKLRSDLS
RELEEISERLEEAGGATSVQIEMNKKREAEFQKMRRDLEEATLQHEATAAALRKKHADSV
AELGEQIDNLQRVKQKLEKEKSEFKLELDDVTSNMEQIIKAKANLEKMCRTLEDQMNEHR
SKAEETQRSVNDLTSQRAKLQTENGELSRQLDEKEALISQLTRGKLTYTQQLEDLKRQLE
EEVKAKNALAHALQSARHDCDLLREQYEEETEAKAELQRVLSKANSEVAQWRTKYETDAI
QRTEELEEAKKKLAQRLQEAEEAVEAVNAKCSSLEKTKHRLQNEIEDLMVDVERSNAAAA
ALDKKQRNFDKILAEWKQKYEESQSELESSQKEARSLSTELFKLKNAYEESLEHLETFKR
ENKNLQEEISDLTEQLGSSGKTIHELEKVRKQLEAEKMELQSALEEAEASLEHEEGKILR
AQLEFNQIKAEIERKLAEKDEEMEQAKRNHLRVVDSLQTSLDAETRSRNEALRVKKKMEG
DLNEMEIQLSHANRMAAEAQKQVKSLQSLLKDTQIQLDDAVRANDDLKENIAIVERRNNL
LQAELEELRAVVEQTERSRKLAEQELIETSERVQLLHSQNTSLINQKKKMDADLSQLQTE
VEEAVQECRNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHRLDEA
EQIALKGGKKQLQKLEARVRELENELEAEQKRNAESVKGMRKSERRIKELTYQTEEDRKN
LLRLQDLVDKLQLKVKAYKRQAEEAEEQANTNLSKFRKVQHELDEAEERADIAESQVNKL
RAKSRDIGTKGLNEE

Sequence length

1935

Interactions

View interactions

115

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 (30)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the musculature	Likely pathogenic; Pathogenic	rs121913648	RCV001814087	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arrhythmogenic cardiomyopathy	Likely pathogenic; Pathogenic	rs1282663873, rs36211715	RCV001732159 RCV001731289	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Asymmetric septal hypertrophy	Pathogenic	rs193922390	RCV001251032	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Biventricular noncompaction cardiomyopathy	Likely pathogenic	rs1892625481	RCV001263484	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiomyopathy	Likely pathogenic; Pathogenic	rs1422611896, rs397516165, rs587782962, rs138049878, rs376897125, rs727504356, rs727503261, rs727504238, rs148808089, rs45544633, rs727503246, rs397516171, rs202141173, rs2754158, rs727504310 View all (62 more)	RCV001799443 RCV001799449 RCV003149914 RCV001189961 RCV003531969 View all (76 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs1241603111, rs1422611896, rs730880748, rs587782962, rs138049878, rs376897125, rs727504356, rs727504311, rs121913632, rs727503261, rs727504238, rs148808089, rs727503271, rs727503276, rs727504283 View all (95 more)	RCV005405579 RCV002359259 RCV002458640 RCV000621026 RCV002433640 View all (121 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chest pain	Pathogenic	rs36211715	RCV000626634	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myopathy	Likely pathogenic; Pathogenic	rs1595070689	RCV000855671	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myopathy with fiber type disproportion	Likely pathogenic; Pathogenic	rs2754158, rs727503263, rs1060505018, rs1566521710, rs1247313340, rs397516127	RCV001198295 RCV001197245 RCV001197233 RCV001199131 RCV001198111 RCV001196247 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dilated cardiomyopathy 1S	Likely pathogenic; Pathogenic	rs2138683978, rs606231334, rs606231324, rs587779396, rs587782962, rs2138681961, rs2138668970, rs1374980600, rs376897125, rs727503261, rs148808089, rs727503246, rs397516171, rs727503253, rs202141173 View all (30 more)	RCV001729993 RCV001253399 RCV000578453 RCV000132758 RCV005411348 View all (40 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cardiomyopathy	Likely pathogenic; Pathogenic	rs606231340, rs606231335, rs606231334, rs606231332, rs606231331, rs606231329, rs606231324, rs606231323, rs606231321, rs606231319, rs606231318, rs606231316, rs606231315, rs397516154	RCV000148955 RCV000148961 RCV000148963 RCV000148965 RCV000148966 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs730880920, rs769484001, rs397516246, rs1241603111, rs1282663873, rs2138642164, rs730880850, rs1422611896, rs397516165, rs36211715, rs1373092362, rs606231324, rs730880748, rs2138642157, rs2138644623 View all (205 more)	RCV001326601 RCV005094406 RCV001370500 RCV001362627 RCV001378368 View all (259 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic cardiomyopathy 1	Likely pathogenic; Pathogenic	rs1060501439, rs397516107, rs1892745662, rs1333791654, rs606231340, rs606231324, rs727505294, rs587782962, rs1555338319, rs138049878, rs376897125, rs727504356, rs121913632, rs727503261, rs727504238 View all (94 more)	RCV001808158 RCV001808252 RCV001808847 RCV001808857 RCV001781460 View all (119 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Left ventricular noncompaction	Likely pathogenic; Pathogenic	rs727503269, rs730880856, rs730880850, rs1555338658, rs397516089	RCV000151296 RCV000219555 RCV000214568 RCV000678820 RCV000035698	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Left ventricular noncompaction 5	Likely pathogenic; Pathogenic	rs121913654, rs730880850, rs397515482, rs138110910	RCV000015183 RCV000015188 RCV000056316 RCV000056317	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular noncompaction cardiomyopathy	Likely pathogenic; Pathogenic	rs606231324, rs587782961, rs730880863, rs121913628, rs730880850, rs397516248, rs727503266, rs397515482	RCV000157356 RCV000143920 RCV002208730 RCV002054441 RCV001256089 RCV000207999 RCV000853170 RCV002054899 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYH7-related cardiomyopathy	Likely pathogenic; Pathogenic	rs730880736	RCV005625345	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYH7-related disorder	Likely pathogenic; Pathogenic	rs2138672565, rs138049878, rs397516171, rs202141173, rs727504236, rs730880750, rs121913624, rs121913625, rs121913627, rs121913628, rs121913650, rs36211715, rs1064792935, rs397516089, rs371898076 View all (5 more)	RCV004545828 RCV004757135 RCV004532676 RCV004757139 RCV004545874 View all (15 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYH7-related skeletal myopathy	Likely pathogenic; Pathogenic	rs730880806, rs606231324, rs587779414, rs587779390, rs587779391, rs587779392, rs587779393, rs367543052, rs587779396, rs587779415, rs587782962, rs2138638795, rs376897125, rs397516171, rs202141173 View all (19 more)	RCV001807701 RCV003883132 RCV000132747 RCV000132750 RCV000132751 View all (29 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myocarditis	Likely pathogenic	rs1892948780	RCV002067719	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Likely pathogenic; Pathogenic	rs2754158	RCV000415053	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy, myosin storage, autosomal recessive	Likely pathogenic; Pathogenic	rs606231324, rs587782962, rs376897125, rs397516171, rs202141173, rs2754158, rs730880805, rs2502251571, rs121913627, rs121913650, rs267606911, rs397516127, rs371898076, rs397516201, rs145213771, rs397516260, rs45516091, rs397516266 View all (3 more)	RCV003883132 RCV005411348 RCV005003491 RCV003147351 RCV004819221 View all (13 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myosin storage myopathy	Likely pathogenic; Pathogenic	rs606231324, rs587779393, rs587782962, rs376897125, rs148808089, rs397516171, rs202141173, rs2754158, rs730880809, rs863224900, rs1892079951, rs2502241547, rs121913627, rs121913649, rs121913654 View all (13 more)	RCV003883132 RCV003320105 RCV005411348 RCV005003491 RCV004813062 View all (24 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuromuscular disease	Likely pathogenic	rs397516248	RCV000211834	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7)	Likely pathogenic	rs587779392	RCV002515923	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary dilated cardiomyopathy	Likely pathogenic; Pathogenic	rs769484001, rs606231324, rs45544633, rs727503253, rs727503258, rs869025483, rs121913625, rs121913629, rs121913642, rs1060501443, rs1555338080, rs1555338574, rs397516089, rs397516123, rs397516142 View all (10 more)	RCV001328489 RCV001281475 RCV000151238 RCV000208124 RCV000151274 View all (20 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary familial dilated cardiomyopathy	Pathogenic; Likely pathogenic	rs397516165, rs397516258	RCV000845382 RCV005055539	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary familial hypertrophic cardiomyopathy	Pathogenic; Likely pathogenic	rs587782962, rs138049878, rs376897125, rs727504356, rs727504311, rs202141173, rs727504310, rs727503260, rs727504239, rs727503278, rs730880159, rs727505202, rs876657884, rs121913624, rs121913625 View all (24 more)	RCV000143923 RCV000148707 RCV000148711 RCV004800298 RCV000770756 View all (35 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Restrictive cardiomyopathy	Likely pathogenic; Pathogenic	rs727503260, rs727503269, rs397516153	RCV000151276 RCV000151296 RCV000758065	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs1555338658	RCV005901219	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (85)

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.
Abnormal morphology of left ventricular trabeculae	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic right ventricular cardiomyopathy	Uncertain significance	ClinVar CTD, ClinGen	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic right ventricular dysplasia 9	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial fibrillation	Uncertain significance	ClinVar CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial flutter	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant MYH7-related disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT MYOSIN STORAGE MYOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAMPTOCORMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiac arrhythmia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARDIOMYOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1S	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL IDIOPATHIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, hypertrophic, midventricular, digenic	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSIC MULTIMINICORE MYOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conduction disorder of the heart	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL EPICANTHUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FIBER TYPE DISPROPORTION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	ClinGen, Disgenet ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT	—	CTD, GWAS catalog, HPO CTD, GWAS catalog, HPO CTD, GWAS catalog, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY STENOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1A	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1R	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated Cardiomyopathy, Dominant	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL MUSCULAR DYSTROPHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL MYOPATHIES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL MYOPATHY 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyspnea	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ebstein anomaly	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FAMILIAL DILATED CARDIOMYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY TYPE 4	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated arrhythmogenic right ventricular dysplasia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
First degree atrioventricular block	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROSS MOTOR DEVELOPMENT DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEART FAILURE, DIASTOLIC	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyaline body myopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy 2	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy 4	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOPLASTIC LEFT HEART SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotonia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic camptocormia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Increased left ventricular wall thickness	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular hypertrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MYOCARDIAL INFARCTION	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROMUSCULAR DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARIETO-OCCIPITAL CRANIOSYNOSTOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pericarditis	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Polymorphic ventricular tachycardia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prolonged QT interval	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SAGITTAL CRANIOSYNOSTOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scapuloperoneal myopathy	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCAPULOPERONEAL MYOPATHY, MYH7-RELATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden cardiac death	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden unexplained death	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tachycardia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular fibrillation	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular fibrillation, paroxysmal familial, type 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular tachycardia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR TACHYCARDIA, POLYMORPHIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White pattern	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (262)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	BEFREE	31305444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	20124440		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	20124440	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	20359594, 36007715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	27000522, 31653443		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	34067482, 36136372, 37949661	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asymmetric Septal Hypertrophy	Septal Hypertrophy	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial Fibrillation	Atrial fibrillation	Pubtator	15528230, 24093860, 30061737, 30371277, 34495297	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial Fibrillation	BEFREE	24093860, 26869393, 30354366		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	29892015		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	29892015, 30061737		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial fibrillation	Pubtator	33297970	Stimulate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial Fibrillation	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	37322441	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Myotubular Myopathy	Centronuclear Myopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Centronuclear Myopathy	Centronuclear Myopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Protein Disorders	Blood protein disorder	Pubtator	35893073	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bohring syndrome	Bohring syndrome	Pubtator	32969603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	36303204	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	26220970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Camptocormia	Camptocormia	Pubtator	27387980	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomegaly	Cardiomegaly	Pubtator	18403758, 22765922	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	11549319, 15322983, 17383184, 17434305, 17947214, 18403758, 19864899, 20031619, 21211974, 22763267, 23403236, 25119045, 25666907, 25892673, 25935763 View all (11 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG	15322983		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	15322983, 15528230, 18403758, 20124440, 20458009, 22194935, 22763267, 23074333, 23478172, 24664454, 25935763, 27387980, 28815794, 28927399, 29300372 View all (21 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	LHGDN	17588755, 17956225		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies, Primary	Cardiomyopathy	BEFREE	30588760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	16103042, 19293840, 19854198, 20124440, 20201937, 21750094, 22464770, 22763267, 24119082, 26458567, 30150400, 30650640, 30947911, 31983221, 32160020 View all (12 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	15528230, 29447731, 30371277, 30947911, 34853230, 35893073, 36292635, 37565978	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	10424815, 10662815, 11214007, 12084606, 15358028, 17612745, 18258667, 18365899, 19645038, 19808356, 19880069, 19913502, 20359594, 20433692, 20615414 View all (102 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic Familial	Cardiomyopathy	Pubtator	10424815, 10662815, 11214007, 15528230, 15858117, 16103042, 19645038, 21769673, 22112859, 22857948, 24298987, 24963656, 26337809, 28498465, 31638223, 31960626, 37744343, 38538344 View all (3 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG	11106718, 15556047, 15769782, 16983074, 17351073, 18660445, 19412328, 19477645, 19854198, 20031619, 20573160, 21211974, 21750094, 21943931, 22155079 View all (21 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	CTD_human_DG	11986409		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	15556047		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	17434305, 18953637, 21750094, 24953931, 25666907, 27318203, 27519903, 30874888		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1S	Cardiomyopathy	CLINVAR_DG	10750581, 20573160, 23283745, 23290139, 23299917, 25132132		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1S	Cardiomyopathy	UNIPROT_DG	11106718, 12379228, 15769782, 18506004, 21127202, 21846512		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1S	Cardiomyopathy	GENOMICS_ENGLAND_DG	20186049, 27532257		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1S	Cardiomyopathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)	Cardiomyopathy	CLINVAR_DG	10024460, 10065021, 10086390, 10521296, 10606622, 10662815, 10725281, 10750581, 10764406, 10874840, 10882745, 10957787, 11113006, 11133230, 11186938 View all (183 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)	Cardiomyopathy	UNIPROT_DG	10065021, 10329202, 10521296, 10563488, 10679957, 10862102, 11113006, 11133230, 11214007, 11424919, 11733062, 11861413, 11968089, 12081993, 12566107 View all (41 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)	Cardiomyopathy	GENOMICS_ENGLAND_DG	20186049, 27532257		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)	Cardiomyopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	CTD_human_DG	11986409		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	17947214, 18953637, 20201937, 21750094, 22177269, 26458567, 27000522, 30947911		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)	Cardiomyopathy	BEFREE	29907873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	CLINVAR_DG	10024460, 10065021, 10521296, 10563488, 10606622, 10662815, 10725281, 10750581, 10862102, 10882745, 11106718, 11113006, 11133230, 11227787, 11377367 View all (215 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	BEFREE	10329202, 11214007, 11861413, 12788380, 17495353, 17703256, 23290139, 23508784, 23674513, 24298987, 24963656, 25209314, 26337809, 29555974, 7815466		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	LHGDN	11861413, 17165166, 17703256		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	CTD_human_DG	23896226		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Abnormalities	Cardiovascular Abnormalities	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	26440511		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Core Myopathy (disorder)	Myopathy	BEFREE	24828896, 8483915		★★★★★ ★☆☆☆☆ Found in Text Mining only
Centronuclear myopathy	Centronuclear Myopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	12975303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Classic multiminicore myopathy	Multiminicore Myopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft Palate	Cleft palate	Pubtator	37967257	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clubfoot	Clubfoot	Pubtator	20357587	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	35885957	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	BEFREE	21288719, 25576864, 26782017, 29170849		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Heart Defects	Congenital heart defects	BEFREE	21127202, 28017577		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital kyphoscoliosis	Congenital kyphoscoliosis	BEFREE	31305444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	23478172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	CLINVAR_DG	27854218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Structural Myopathy	Congenital Structural Myopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	20031619, 25119045, 30599150, 30874888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	20357587	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary Stenosis	CTD_human_DG	12721106		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptorchidism	Cryptorchidism	BEFREE	22906643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	22906643	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	25608533, 33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of skeletal muscle	Disorder Of Skeletal Muscle	BEFREE	17434305, 25666907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal Muscular Dystrophies	Distal Muscular Dystrophy	BEFREE	15322983, 17383184, 21211974, 22521714, 24664454, 27005958, 31653443		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Muscular Dystrophies	Distal Muscular Dystrophy	LHGDN	15322983		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Muscular Dystrophies	Distal Muscular Dystrophy	GENOMICS_ENGLAND_DG	15322983		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Muscular Dystrophies	Distal Muscular Dystrophy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Myopathies	Distal myopathy	Pubtator	15322983, 16103042, 19797833, 19854198, 23478172, 24664454, 26094647, 27005958, 27387980, 28927399, 30166250, 32607476, 33298082, 7847377	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Myopathy 1	Distal Myopathy	CLINVAR_DG	10750581, 11102913, 11166161, 15322983, 19477645, 21279644, 23283745, 23290139, 23299917, 24300783, 25132132		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Myopathy 1	Distal Myopathy	BEFREE	15322983, 16103042, 20733148, 21279644, 22155079, 22918376, 23153285, 23478172, 23707328, 24300783, 25447691, 25576864, 27282841, 27469267, 27519903, 28927399, 29170849, 30166250 View all (3 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Myopathy 1	Distal Myopathy	UNIPROT_DG	15322983, 17548557		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Myopathy 1	Distal Myopathy	GENOMICS_ENGLAND_DG	15322983, 20186049, 27532257		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Myopathy 1	Distal Myopathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal myopathy Nonaka type	Distal myopathy	Pubtator	16103042	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double outlet right ventricle	Pubtator	37322441	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ebstein Anomaly	Ebstein anomaly of the tricuspid valve	BEFREE	21127202, 23794396, 28017577, 29024827		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ebstein Anomaly	Ebstein anomaly of the tricuspid valve	CLINVAR_DG	21127202		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ebstein Anomaly	Ebstein anomaly of the tricuspid valve	ORPHANET_DG	23956225		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ebstein Anomaly	Ebstein anomaly of the tricuspid valve	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Endocardial Fibroelastosis	Endocardial Fibroelastosis	LHGDN	17019812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	31308319	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	11106718		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial dilated cardiomyopathy	Cardiomyopathy	BEFREE	15769782		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
familial dilated cardiomyopathy	Dilated cardiomyopathy	Pubtator	19412328, 24664454, 26199943, 27161364	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial dilated cardiomyopathy	Cardiomyopathy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized amyotrophy	Amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized limb muscle atrophy	Limb Muscle Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Genetic Predisposition to Disease	Genetic predisposition to disease	Pubtator	37246080	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	16103042, 30166250	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	35885957	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	19854198, 24664454, 29743414, 31813281, 33297970, 36140722, 36292635, 36902340, 8483915	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	24953931, 25182012, 30322937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	LHGDN	17019812		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Heart failure	Heart Failure	BEFREE	20031619, 25119045, 30599150, 30874888		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Heart Failure	Heart failure	Pubtator	20124440, 24119082, 26199943, 28855170, 36007715, 36140722, 36948619, 38538344	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Heart Failure, Diastolic	Heart Failure	CTD_human_DG	29556499		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Right-Sided	Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	18159245	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	23117287	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	15706574		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyaline body myopathy	Hyaline Body Myopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrocephalus	Hydrocephalus	Pubtator	40603987	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	11214007, 11549319, 15483641, 15528230, 15858117, 7815466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	19880069	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINVAR_DG	10024460, 10065021, 10086390, 10328076, 10521296, 10567705, 10662815, 10725281, 10750581, 10764406, 10862102, 10882745, 10957787, 11113006, 11133230 View all (257 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	10329202, 10996847, 12473556, 12820698, 12881443, 12974739, 14584916, 15000344, 15136674, 15358028, 15386449, 15563892, 15706574, 15819282, 16087648 View all (69 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINGEN_DG	1430197, 1552912, 15856146, 1634614, 1944483, 1975517, 2144212, 23290139, 23798412, 25189259, 25209314, 27532257, 8614836		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	15856146, 17612745, 18029407		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CTD_human_DG	29686627, 29741611		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	10329202, 12881443, 14584916, 15136674, 17383184, 17495353, 18175163, 19184181, 20560001, 21674835, 22765922, 24183960, 24928957, 25037680, 25607779 View all (17 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	CTD_human_DG	29686627, 29741611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	11214007, 15358028, 17612745, 18365899, 20433692, 34854353, 37656238, 37802074, 39647438	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	10424815, 30681346, 32233023, 36902340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy Right Ventricular	Right ventricular hypertrophy	Pubtator	28323875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypocalciuric hypercalcemia, familial, type 1	Hypocalciuric Hypercalcemia	BEFREE	15706574		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPOPLASTIC LEFT HEART SYNDROME 1	Hypoplastic Left Heart Syndrome	BEFREE	27789736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis Lamellar	Lamellar ichthyosis	Pubtator	26337809	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic hypertrophic subaortic stenosis	Hypertrophic Subaortic Stenosis	CTD_human_DG	23896226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated Systolic Hypertension	Isolated systolic hypertension	Pubtator	15528230	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	36007715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Laing early-onset distal myopathy	Distal Myopathy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Left anterior fascicular block	Left anterior fascicular block	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	15358028, 28002430, 8261235		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction	Left ventricular noncompaction	CLINVAR_DG	18159245, 18258667, 18506004, 20031619, 21127202, 21310275, 21551322, 22464770, 22859017, 23861362, 23956225, 24691700, 27532257		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Left ventricular noncompaction	Left ventricular noncompaction	BEFREE	20031619, 21127202, 23117287, 23794396, 25547560, 25550050, 30924982		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Left ventricular noncompaction	Left ventricular noncompaction	ORPHANET_DG	25415959		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Left ventricular noncompaction	Left ventricular noncompaction	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEFT VENTRICULAR NONCOMPACTION 5	Left ventricular noncompaction	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LEFT VENTRICULAR NONCOMPACTION 5	Left ventricular noncompaction	GENOMICS_ENGLAND_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	CLINVAR_DG	19477645, 24664454		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	BEFREE	21127202, 22859017, 23117287, 25547560, 25550050, 25576864, 26025024, 29568952		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEOPARD Syndrome	Leopard syndrome	Pubtator	27161364	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	10220146		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT Syndrome	Long qt syndrome	Pubtator	36303204	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung Neoplasms	Lung neoplasms	Pubtator	35769670	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	35769670	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lysinuric Protein Intolerance	Lysinuric Protein Intolerance	BEFREE	10451527, 9887380		★★★★★ ★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	Melas syndrome	Pubtator	33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)	Minicore myopathy with external ophthalmoplegia	BEFREE	22784669		★★★★★ ★☆☆☆☆ Found in Text Mining only
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)	Minicore myopathy with external ophthalmoplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	19184181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial encephalopathy	Mitochondrial encephalopathy	Pubtator	33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	20733148		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	15858117	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	26969127		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYH7-related late-onset scapuloperoneal muscular dystrophy	Scapuloperoneal Muscular Dystrophy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Diseases, Secondary	Myocardial Diseases	BEFREE	18380764, 26337809		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	CTD_human_DG	11743230		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	26969127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathies, Nemaline	Myopathy	BEFREE	31721788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	15136674, 17336526, 18555187, 19563543, 22784669, 23153285, 23478172, 24953931, 25576864, 25666907, 26782017, 26799446, 27005958, 27282841, 27387980 View all (8 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy Central Core	Central core myopathy	Pubtator	24828896, 8483915	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy Myosin Storage	Myosin storage myopathy	Pubtator	15322983, 23478172, 24664454, 27387980, 28927399, 31068177, 37794383	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, 1	Myopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, Autosomal Dominant	Myopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy, Hyaline Body, Autosomal Recessive	Myosin storage myopathy	CLINVAR_DG	10750581, 23283745, 23290139, 23299917, 25132132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy, Hyaline Body, Autosomal Recessive	Myosin storage myopathy	GENOMICS_ENGLAND_DG	20186049, 27532257		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy, Hyaline Body, Autosomal Recessive	Myosin storage myopathy	UNIPROT_DG	25666907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy, Hyaline Body, Autosomal Recessive	Myosin storage myopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOSIN STORAGE (disorder)	Myosin storage myopathy	CLINVAR_DG	10750581, 23283745, 23290139, 23299917, 25132132		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOSIN STORAGE (disorder)	Myosin storage myopathy	BEFREE	14520662, 15322983, 15699387, 16684601, 17336526, 17383184, 19138847, 21288719, 22918376, 24664454, 25666907, 25801283, 29170849, 31068177		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOSIN STORAGE (disorder)	Myosin storage myopathy	UNIPROT_DG	14520662, 15136674, 16684601, 17336526		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOSIN STORAGE (disorder)	Myosin storage myopathy	GENOMICS_ENGLAND_DG	20186049, 27532257		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOSIN STORAGE (disorder)	Myosin storage myopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	23478172	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrosis congenital	Nephrotic syndrome	Pubtator	15322983	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	CLINVAR_DG	12975303, 15322983, 19477645, 20733148, 21395566, 22918376, 24664454, 25576864		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-compaction cardiomyopathy	Noncompaction cardiomyopathy	BEFREE	17947214, 22859017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noncompaction cardiomyopathy	Noncompaction cardiomyopathy	BEFREE	30947911		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29635288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obstructive asymmetric septal hypertrophy	Obstructive Asymmetric Septal Hypertrophy	CTD_human_DG	23896226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	29892015, 30061737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	37949661	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36095024, 36245556	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Restrictive cardiomyopathy	Restrictive cardiomyopathy	CLINVAR_DG	12707239, 17125710, 18076673, 18380764, 20394946, 20800588, 20818890, 22260945, 23549607, 23690394, 25524337, 25935763, 27532257		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Restrictive cardiomyopathy	Restrictive cardiomyopathy	BEFREE	18380764		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Restrictive cardiomyopathy	Restrictive cardiomyopathy	LHGDN	18380764		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Right bundle branch block	Bundle Branch Block	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Right ventricular failure	Ventricular Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scapuloperoneal myopathy	Scapuloperoneal myopathy	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scapuloperoneal myopathy	Scapuloperoneal myopathy	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis	Scoliosis	Pubtator	24664454	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	27250523		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	8872481		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37340028, 37679666	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	35544069	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Subaortic stenosis	Subaortic Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	24093860	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tibial Muscular Dystrophy	Tibial muscular dystrophy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
TIBIAL MUSCULAR DYSTROPHY, TARDIVE	Tibial muscular dystrophy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Toe extensor amyotrophy	Toe extensor amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tubular Aggregate Myopathy	Tubular Aggregate Myopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Upper limb amyotrophy	Limb amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	40565367	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	28840316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	18383048, 29121657, 36007715, 37802074, 38101154	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	24119082	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Remodeling	Ventricular remodeling	Pubtator	29386531, 36007715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	23117287, 23956225		★★★★★ ★☆☆☆☆ Found in Text Mining only
Welander Distal Myopathy	Welander Distal Myopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Syndrome	BEFREE	17495353		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked centronuclear myopathy	Centronuclear Myopathy, X-Linked	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
X-Linked Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy, X-Linked	CLINVAR_DG	10750581, 23283745, 23290139, 23299917, 25132132		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-Linked Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy, X-Linked	UNIPROT_DG	17336526		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-Linked Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy, X-Linked	ORPHANET_DG	17336526		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-Linked Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy, X-Linked	GENOMICS_ENGLAND_DG	20186049, 27532257		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-Linked Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy, X-Linked	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

MYH7 (myosin heavy chain 7)