TPM1 (tropomyosin 1)

Gene

• Entrez ID: 7168
• Gene name: Tropomyosin 1
• Gene symbol: TPM1
• Synonyms (NCBI Gene): C15orf13, CMD1Y, CMH3, HEL-S-265, HTM-alpha, LVNC9, TMSA
• Chromosome: 15
• Chromosome location: 15q22.2
• Summary: This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894501	G>A,C,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant, 5 prime UTR variant, intron variant
rs104894502	A>G,T	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs104894503	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs104894504	T>C	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant, 5 prime UTR variant
rs104894505	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, 5 prime UTR variant, intron variant
rs144045691	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs199476305	G>C	Likely-pathogenic, not-provided	Genic upstream transcript variant, missense variant, intron variant, coding sequence variant, 5 prime UTR variant
rs199476306	C>T	Likely-pathogenic, uncertain-significance	Genic upstream transcript variant, missense variant, intron variant, coding sequence variant, 5 prime UTR variant
rs199476310	T>C	Likely-pathogenic, not-provided	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs199476311	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs199476312	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs199476315	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs199476316	C>T	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs199476317	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs199476319	A>G	Pathogenic, not-provided	Coding sequence variant, missense variant, non coding transcript variant
rs199476321	T>C	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, missense variant
rs397516363	G>A,T	Likely-pathogenic	Genic upstream transcript variant, missense variant, intron variant, coding sequence variant, 5 prime UTR variant
rs397516364	T>G	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, genic upstream transcript variant
rs397516369	C>G	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs397516370	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs397516371	G>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs397516372	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs397516373	G>A	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs397516376	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs397516386	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs397516391	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant, genic upstream transcript variant
rs397516486	C>G,T	Likely-pathogenic	Missense variant, intron variant, synonymous variant, coding sequence variant, non coding transcript variant
rs532254032	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, intron variant
rs727503518	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs727504264	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs727504290	G>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant
rs727504389	A>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs730881128	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant, intron variant
rs730881134	A>G,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs730881136	T>A,G	Pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs730881140	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, intron variant
rs730881146	G>A	Pathogenic, uncertain-significance	Splice donor variant, intron variant, genic upstream transcript variant
rs730881151	G>T	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant
rs730881157	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, 5 prime UTR variant
rs730881159	G>A,T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, intron variant
rs730881160	A>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs754664923	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, 5 prime UTR variant
rs757577112	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs876657662	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs879253758	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886037905	G>A,C	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant, non coding transcript variant
rs886039444	A>C	Uncertain-significance, likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant
rs1064793284	G>C	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs1114167355	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1114167356	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1114167357	T>C	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1555408679	A>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1555409659	TACTCG>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant, non coding transcript variant
rs1596303148	A>G	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, missense variant, intron variant, coding sequence variant
rs1596386673	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001980	hsa-miR-21-5p	Luciferase reporter assay, Western blot	17363372
MIRT001980	hsa-miR-21-5p	Review	19935707
MIRT001980	hsa-miR-21-5p	Luciferase reporter assay	18270520
MIRT001980	hsa-miR-21-5p	Luciferase reporter assay	17363372
MIRT001980	hsa-miR-21-5p	Review	20130964
MIRT001980	hsa-miR-21-5p	Review	20026422
MIRT001980	hsa-miR-21-5p	Luciferase reporter assay	19253296
MIRT001327	hsa-miR-1-3p	pSILAC	18668040
MIRT001980	hsa-miR-21-5p	Luciferase reporter assay	21817107
MIRT001980	hsa-miR-21-5p	Luciferase reporter assay	21817107
MIRT021693	hsa-miR-133a-3p	Microarray	21396852
MIRT023135	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT001327	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT001327	hsa-miR-1-3p	Proteomics	18668040
MIRT025560	hsa-miR-34a-5p	Proteomics	21566225
MIRT025560	hsa-miR-34a-5p	Proteomics	21566225
MIRT025560	hsa-miR-34a-5p	Proteomics	21566225
MIRT001980	hsa-miR-21-5p	Microarray	18591254
MIRT001980	hsa-miR-21-5p	Western blot;qRT-PCR	17363372
MIRT053002	hsa-miR-10b-5p	Western blot	22766763
MIRT698095	hsa-miR-892a	HITS-CLIP	23313552
MIRT698094	hsa-miR-3174	HITS-CLIP	23313552
MIRT698093	hsa-miR-6761-3p	HITS-CLIP	23313552
MIRT698092	hsa-miR-6825-3p	HITS-CLIP	23313552
MIRT698091	hsa-miR-6831-3p	HITS-CLIP	23313552
MIRT698090	hsa-miR-1185-5p	HITS-CLIP	23313552
MIRT698089	hsa-miR-3679-5p	HITS-CLIP	23313552
MIRT698088	hsa-miR-3605-5p	HITS-CLIP	23313552
MIRT698087	hsa-miR-145-3p	HITS-CLIP	23313552
MIRT698086	hsa-miR-8064	HITS-CLIP	23313552
MIRT698085	hsa-miR-155-3p	HITS-CLIP	23313552
MIRT698084	hsa-miR-6828-3p	HITS-CLIP	23313552
MIRT698083	hsa-miR-6071	HITS-CLIP	23313552
MIRT698082	hsa-miR-3685	HITS-CLIP	23313552
MIRT698081	hsa-miR-497-5p	HITS-CLIP	23313552
MIRT698095	hsa-miR-892a	HITS-CLIP	23313552
MIRT698094	hsa-miR-3174	HITS-CLIP	23313552
MIRT698093	hsa-miR-6761-3p	HITS-CLIP	23313552
MIRT698092	hsa-miR-6825-3p	HITS-CLIP	23313552
MIRT698091	hsa-miR-6831-3p	HITS-CLIP	23313552
MIRT698090	hsa-miR-1185-5p	HITS-CLIP	23313552
MIRT698089	hsa-miR-3679-5p	HITS-CLIP	23313552
MIRT698088	hsa-miR-3605-5p	HITS-CLIP	23313552
MIRT698087	hsa-miR-145-3p	HITS-CLIP	23313552
MIRT698086	hsa-miR-8064	HITS-CLIP	23313552
MIRT698085	hsa-miR-155-3p	HITS-CLIP	23313552
MIRT698084	hsa-miR-6828-3p	HITS-CLIP	23313552
MIRT698083	hsa-miR-6071	HITS-CLIP	23313552
MIRT698082	hsa-miR-3685	HITS-CLIP	23313552
MIRT698081	hsa-miR-497-5p	HITS-CLIP	23313552
MIRT1449392	hsa-miR-1185	CLIP-seq
MIRT1449393	hsa-miR-1227	CLIP-seq
MIRT1449394	hsa-miR-1228	CLIP-seq
MIRT1449395	hsa-miR-1249	CLIP-seq
MIRT1449396	hsa-miR-1271	CLIP-seq
MIRT1449397	hsa-miR-1283	CLIP-seq
MIRT1449398	hsa-miR-140-3p	CLIP-seq
MIRT1449399	hsa-miR-219-5p	CLIP-seq
MIRT1449400	hsa-miR-2278	CLIP-seq
MIRT1449401	hsa-miR-297	CLIP-seq
MIRT1449402	hsa-miR-299-3p	CLIP-seq
MIRT1449403	hsa-miR-29a	CLIP-seq
MIRT1449404	hsa-miR-29b	CLIP-seq
MIRT1449405	hsa-miR-29c	CLIP-seq
MIRT1449406	hsa-miR-3119	CLIP-seq
MIRT1449407	hsa-miR-3144-5p	CLIP-seq
MIRT1449408	hsa-miR-3149	CLIP-seq
MIRT1449409	hsa-miR-3160-3p	CLIP-seq
MIRT1449410	hsa-miR-3182	CLIP-seq
MIRT1449411	hsa-miR-33a	CLIP-seq
MIRT1449412	hsa-miR-33b	CLIP-seq
MIRT1449413	hsa-miR-3591-5p	CLIP-seq
MIRT1449414	hsa-miR-3606	CLIP-seq
MIRT1449415	hsa-miR-3649	CLIP-seq
MIRT1449416	hsa-miR-375	CLIP-seq
MIRT1449417	hsa-miR-3917	CLIP-seq
MIRT1449418	hsa-miR-3973	CLIP-seq
MIRT1449419	hsa-miR-409-3p	CLIP-seq
MIRT1449420	hsa-miR-4445	CLIP-seq
MIRT1449421	hsa-miR-4477b	CLIP-seq
MIRT1449422	hsa-miR-4487	CLIP-seq
MIRT1449423	hsa-miR-4491	CLIP-seq
MIRT1449424	hsa-miR-4504	CLIP-seq
MIRT1449425	hsa-miR-4639-5p	CLIP-seq
MIRT1449426	hsa-miR-4645-3p	CLIP-seq
MIRT1449427	hsa-miR-4652-3p	CLIP-seq
MIRT1449428	hsa-miR-4657	CLIP-seq
MIRT1449429	hsa-miR-4659a-3p	CLIP-seq
MIRT1449430	hsa-miR-4659b-3p	CLIP-seq
MIRT1449431	hsa-miR-4677-3p	CLIP-seq
MIRT1449432	hsa-miR-4679	CLIP-seq
MIRT1449433	hsa-miR-4684-5p	CLIP-seq
MIRT1449434	hsa-miR-4716-3p	CLIP-seq
MIRT1449435	hsa-miR-4732-3p	CLIP-seq
MIRT1449436	hsa-miR-4778-3p	CLIP-seq
MIRT1449437	hsa-miR-4782-3p	CLIP-seq
MIRT1449438	hsa-miR-4790-3p	CLIP-seq
MIRT1449439	hsa-miR-4799-5p	CLIP-seq
MIRT1449440	hsa-miR-503	CLIP-seq
MIRT1449441	hsa-miR-508-3p	CLIP-seq
MIRT1449442	hsa-miR-513c	CLIP-seq
MIRT1449443	hsa-miR-514b-5p	CLIP-seq
MIRT1449444	hsa-miR-520d-5p	CLIP-seq
MIRT1449445	hsa-miR-520g	CLIP-seq
MIRT1449446	hsa-miR-520h	CLIP-seq
MIRT1449447	hsa-miR-524-5p	CLIP-seq
MIRT1449448	hsa-miR-542-3p	CLIP-seq
MIRT1449449	hsa-miR-548a-3p	CLIP-seq
MIRT1449450	hsa-miR-548a-5p	CLIP-seq
MIRT1449451	hsa-miR-548ab	CLIP-seq
MIRT1449452	hsa-miR-548ak	CLIP-seq
MIRT1449453	hsa-miR-548b-5p	CLIP-seq
MIRT1449454	hsa-miR-548c-5p	CLIP-seq
MIRT1449455	hsa-miR-548d-5p	CLIP-seq
MIRT1449456	hsa-miR-548e	CLIP-seq
MIRT1449457	hsa-miR-548f	CLIP-seq
MIRT1449458	hsa-miR-548h	CLIP-seq
MIRT1449459	hsa-miR-548i	CLIP-seq
MIRT1449460	hsa-miR-548j	CLIP-seq
MIRT1449461	hsa-miR-548n	CLIP-seq
MIRT1449462	hsa-miR-548t	CLIP-seq
MIRT1449463	hsa-miR-548w	CLIP-seq
MIRT1449464	hsa-miR-548y	CLIP-seq
MIRT1449465	hsa-miR-556-5p	CLIP-seq
MIRT1449466	hsa-miR-558	CLIP-seq
MIRT1449467	hsa-miR-559	CLIP-seq
MIRT1449468	hsa-miR-562	CLIP-seq
MIRT1449469	hsa-miR-567	CLIP-seq
MIRT1449470	hsa-miR-600	CLIP-seq
MIRT1449471	hsa-miR-653	CLIP-seq
MIRT1449472	hsa-miR-921	CLIP-seq
MIRT1449473	hsa-miR-96	CLIP-seq
MIRT1449399	hsa-miR-219-5p	CLIP-seq
MIRT1555139	hsa-miR-300	CLIP-seq
MIRT1555140	hsa-miR-381	CLIP-seq
MIRT1449420	hsa-miR-4445	CLIP-seq
MIRT1555141	hsa-miR-4528	CLIP-seq
MIRT1555142	hsa-miR-4666-3p	CLIP-seq
MIRT1449437	hsa-miR-4782-3p	CLIP-seq
MIRT1555143	hsa-miR-4789-5p	CLIP-seq
MIRT1449441	hsa-miR-508-3p	CLIP-seq
MIRT1449442	hsa-miR-513c	CLIP-seq
MIRT1449443	hsa-miR-514b-5p	CLIP-seq
MIRT1449449	hsa-miR-548a-3p	CLIP-seq
MIRT1449456	hsa-miR-548e	CLIP-seq
MIRT1449457	hsa-miR-548f	CLIP-seq
MIRT1555144	hsa-miR-587	CLIP-seq
MIRT1449392	hsa-miR-1185	CLIP-seq
MIRT2134402	hsa-miR-2355-5p	CLIP-seq
MIRT1449401	hsa-miR-297	CLIP-seq
MIRT1555139	hsa-miR-300	CLIP-seq
MIRT1449408	hsa-miR-3149	CLIP-seq
MIRT1449410	hsa-miR-3182	CLIP-seq
MIRT1449413	hsa-miR-3591-5p	CLIP-seq
MIRT1449414	hsa-miR-3606	CLIP-seq
MIRT2134403	hsa-miR-3679-3p	CLIP-seq
MIRT1555140	hsa-miR-381	CLIP-seq
MIRT1449419	hsa-miR-409-3p	CLIP-seq
MIRT2134404	hsa-miR-4286	CLIP-seq
MIRT2134405	hsa-miR-4446-5p	CLIP-seq
MIRT1555141	hsa-miR-4528	CLIP-seq
MIRT1449429	hsa-miR-4659a-3p	CLIP-seq
MIRT1449430	hsa-miR-4659b-3p	CLIP-seq
MIRT1555142	hsa-miR-4666-3p	CLIP-seq
MIRT1449436	hsa-miR-4778-3p	CLIP-seq
MIRT1555143	hsa-miR-4789-5p	CLIP-seq
MIRT1449438	hsa-miR-4790-3p	CLIP-seq
MIRT1449449	hsa-miR-548a-3p	CLIP-seq
MIRT1449456	hsa-miR-548e	CLIP-seq
MIRT1449457	hsa-miR-548f	CLIP-seq
MIRT1449469	hsa-miR-567	CLIP-seq
MIRT1555144	hsa-miR-587	CLIP-seq
MIRT2134406	hsa-miR-676	CLIP-seq
MIRT1449472	hsa-miR-921	CLIP-seq
MIRT2355679	hsa-miR-192	CLIP-seq
MIRT2355680	hsa-miR-215	CLIP-seq
MIRT1449399	hsa-miR-219-5p	CLIP-seq
MIRT2134402	hsa-miR-2355-5p	CLIP-seq
MIRT1449401	hsa-miR-297	CLIP-seq
MIRT1449402	hsa-miR-299-3p	CLIP-seq
MIRT1555139	hsa-miR-300	CLIP-seq
MIRT1449406	hsa-miR-3119	CLIP-seq
MIRT1449408	hsa-miR-3149	CLIP-seq
MIRT1449413	hsa-miR-3591-5p	CLIP-seq
MIRT1449414	hsa-miR-3606	CLIP-seq
MIRT2134403	hsa-miR-3679-3p	CLIP-seq
MIRT1555140	hsa-miR-381	CLIP-seq
MIRT2355681	hsa-miR-4269	CLIP-seq
MIRT2134404	hsa-miR-4286	CLIP-seq
MIRT2134405	hsa-miR-4446-5p	CLIP-seq
MIRT2355682	hsa-miR-4452	CLIP-seq
MIRT1449423	hsa-miR-4491	CLIP-seq
MIRT2355683	hsa-miR-4514	CLIP-seq
MIRT1555141	hsa-miR-4528	CLIP-seq
MIRT2355684	hsa-miR-4640-3p	CLIP-seq
MIRT1449428	hsa-miR-4657	CLIP-seq
MIRT1555142	hsa-miR-4666-3p	CLIP-seq
MIRT2355685	hsa-miR-4692	CLIP-seq
MIRT1449435	hsa-miR-4732-3p	CLIP-seq
MIRT2355686	hsa-miR-4742-5p	CLIP-seq
MIRT2355687	hsa-miR-4774-5p	CLIP-seq
MIRT1449437	hsa-miR-4782-3p	CLIP-seq
MIRT1555143	hsa-miR-4789-5p	CLIP-seq
MIRT1449439	hsa-miR-4799-5p	CLIP-seq
MIRT1449469	hsa-miR-567	CLIP-seq
MIRT1555144	hsa-miR-587	CLIP-seq
MIRT1449470	hsa-miR-600	CLIP-seq
MIRT1449472	hsa-miR-921	CLIP-seq
MIRT1449392	hsa-miR-1185	CLIP-seq
MIRT1449394	hsa-miR-1228	CLIP-seq
MIRT1449398	hsa-miR-140-3p	CLIP-seq
MIRT2355679	hsa-miR-192	CLIP-seq
MIRT2355680	hsa-miR-215	CLIP-seq
MIRT1449399	hsa-miR-219-5p	CLIP-seq
MIRT2134402	hsa-miR-2355-5p	CLIP-seq
MIRT1449401	hsa-miR-297	CLIP-seq
MIRT1449402	hsa-miR-299-3p	CLIP-seq
MIRT1449403	hsa-miR-29a	CLIP-seq
MIRT1449404	hsa-miR-29b	CLIP-seq
MIRT1449405	hsa-miR-29c	CLIP-seq
MIRT1555139	hsa-miR-300	CLIP-seq
MIRT1449407	hsa-miR-3144-5p	CLIP-seq
MIRT1449408	hsa-miR-3149	CLIP-seq
MIRT1449410	hsa-miR-3182	CLIP-seq
MIRT1449411	hsa-miR-33a	CLIP-seq
MIRT1449412	hsa-miR-33b	CLIP-seq
MIRT1449413	hsa-miR-3591-5p	CLIP-seq
MIRT1449414	hsa-miR-3606	CLIP-seq
MIRT2434302	hsa-miR-3622a-3p	CLIP-seq
MIRT2434303	hsa-miR-3622b-3p	CLIP-seq
MIRT1449415	hsa-miR-3649	CLIP-seq
MIRT2134403	hsa-miR-3679-3p	CLIP-seq
MIRT2434304	hsa-miR-3691-5p	CLIP-seq
MIRT1449416	hsa-miR-375	CLIP-seq
MIRT1555140	hsa-miR-381	CLIP-seq
MIRT2434305	hsa-miR-3936	CLIP-seq
MIRT1449418	hsa-miR-3973	CLIP-seq
MIRT2355681	hsa-miR-4269	CLIP-seq
MIRT2134404	hsa-miR-4286	CLIP-seq
MIRT1449420	hsa-miR-4445	CLIP-seq
MIRT2134405	hsa-miR-4446-5p	CLIP-seq
MIRT2355682	hsa-miR-4452	CLIP-seq
MIRT2434306	hsa-miR-4474-5p	CLIP-seq
MIRT1449421	hsa-miR-4477b	CLIP-seq
MIRT1449423	hsa-miR-4491	CLIP-seq
MIRT1449424	hsa-miR-4504	CLIP-seq
MIRT2355683	hsa-miR-4514	CLIP-seq
MIRT1555141	hsa-miR-4528	CLIP-seq
MIRT1449425	hsa-miR-4639-5p	CLIP-seq
MIRT2355684	hsa-miR-4640-3p	CLIP-seq
MIRT1449426	hsa-miR-4645-3p	CLIP-seq
MIRT1449427	hsa-miR-4652-3p	CLIP-seq
MIRT1449428	hsa-miR-4657	CLIP-seq
MIRT1449429	hsa-miR-4659a-3p	CLIP-seq
MIRT1449430	hsa-miR-4659b-3p	CLIP-seq
MIRT1555142	hsa-miR-4666-3p	CLIP-seq
MIRT1449431	hsa-miR-4677-3p	CLIP-seq
MIRT1449432	hsa-miR-4679	CLIP-seq
MIRT2355685	hsa-miR-4692	CLIP-seq
MIRT2434307	hsa-miR-4713-3p	CLIP-seq
MIRT1449434	hsa-miR-4716-3p	CLIP-seq
MIRT1449435	hsa-miR-4732-3p	CLIP-seq
MIRT2355686	hsa-miR-4742-5p	CLIP-seq
MIRT2434308	hsa-miR-4752	CLIP-seq
MIRT2434309	hsa-miR-4764-5p	CLIP-seq
MIRT2355687	hsa-miR-4774-5p	CLIP-seq
MIRT1449436	hsa-miR-4778-3p	CLIP-seq
MIRT1449437	hsa-miR-4782-3p	CLIP-seq
MIRT1555143	hsa-miR-4789-5p	CLIP-seq
MIRT1449441	hsa-miR-508-3p	CLIP-seq
MIRT1449442	hsa-miR-513c	CLIP-seq
MIRT1449443	hsa-miR-514b-5p	CLIP-seq
MIRT1449445	hsa-miR-520g	CLIP-seq
MIRT1449446	hsa-miR-520h	CLIP-seq
MIRT1449448	hsa-miR-542-3p	CLIP-seq
MIRT1449449	hsa-miR-548a-3p	CLIP-seq
MIRT1449450	hsa-miR-548a-5p	CLIP-seq
MIRT1449451	hsa-miR-548ab	CLIP-seq
MIRT1449452	hsa-miR-548ak	CLIP-seq
MIRT1449453	hsa-miR-548b-5p	CLIP-seq
MIRT1449454	hsa-miR-548c-5p	CLIP-seq
MIRT1449455	hsa-miR-548d-5p	CLIP-seq
MIRT1449456	hsa-miR-548e	CLIP-seq
MIRT1449457	hsa-miR-548f	CLIP-seq
MIRT1449458	hsa-miR-548h	CLIP-seq
MIRT1449459	hsa-miR-548i	CLIP-seq
MIRT1449460	hsa-miR-548j	CLIP-seq
MIRT1449461	hsa-miR-548n	CLIP-seq
MIRT1449462	hsa-miR-548t	CLIP-seq
MIRT1449463	hsa-miR-548w	CLIP-seq
MIRT1449464	hsa-miR-548y	CLIP-seq
MIRT1449467	hsa-miR-559	CLIP-seq
MIRT1449468	hsa-miR-562	CLIP-seq
MIRT1449469	hsa-miR-567	CLIP-seq
MIRT2434310	hsa-miR-581	CLIP-seq
MIRT1555144	hsa-miR-587	CLIP-seq
MIRT2434311	hsa-miR-643	CLIP-seq
MIRT1449471	hsa-miR-653	CLIP-seq
MIRT2134406	hsa-miR-676	CLIP-seq
MIRT1449472	hsa-miR-921	CLIP-seq
MIRT2649236	hsa-miR-105	CLIP-seq
MIRT2649237	hsa-miR-1207-3p	CLIP-seq
MIRT2649238	hsa-miR-124	CLIP-seq
MIRT2649239	hsa-miR-1254	CLIP-seq
MIRT2649240	hsa-miR-128	CLIP-seq
MIRT2649241	hsa-miR-149	CLIP-seq
MIRT2649242	hsa-miR-2467-3p	CLIP-seq
MIRT2649243	hsa-miR-3116	CLIP-seq
MIRT2649244	hsa-miR-3135b	CLIP-seq
MIRT1449410	hsa-miR-3182	CLIP-seq
MIRT2649245	hsa-miR-338-5p	CLIP-seq
MIRT2649246	hsa-miR-3670	CLIP-seq
MIRT2649247	hsa-miR-3678-3p	CLIP-seq
MIRT2649248	hsa-miR-3686	CLIP-seq
MIRT2649249	hsa-miR-3714	CLIP-seq
MIRT2649250	hsa-miR-3910	CLIP-seq
MIRT2649251	hsa-miR-3919	CLIP-seq
MIRT2649252	hsa-miR-3925-5p	CLIP-seq
MIRT2649253	hsa-miR-4302	CLIP-seq
MIRT2649254	hsa-miR-4434	CLIP-seq
MIRT2649255	hsa-miR-4516	CLIP-seq
MIRT2649256	hsa-miR-4521	CLIP-seq
MIRT2649257	hsa-miR-4531	CLIP-seq
MIRT1449425	hsa-miR-4639-5p	CLIP-seq
MIRT2649258	hsa-miR-4648	CLIP-seq
MIRT2649259	hsa-miR-4756-3p	CLIP-seq
MIRT2649260	hsa-miR-506	CLIP-seq
MIRT2649261	hsa-miR-550a	CLIP-seq
MIRT2649262	hsa-miR-589	CLIP-seq
MIRT2649263	hsa-miR-661	CLIP-seq
MIRT2649264	hsa-miR-760	CLIP-seq
MIRT2649265	hsa-miR-940	CLIP-seq
MIRT2649236	hsa-miR-105	CLIP-seq
MIRT2649237	hsa-miR-1207-3p	CLIP-seq
MIRT2649238	hsa-miR-124	CLIP-seq
MIRT2649239	hsa-miR-1254	CLIP-seq
MIRT2649240	hsa-miR-128	CLIP-seq
MIRT2693946	hsa-miR-1302	CLIP-seq
MIRT2649241	hsa-miR-149	CLIP-seq
MIRT2649242	hsa-miR-2467-3p	CLIP-seq
MIRT2649243	hsa-miR-3116	CLIP-seq
MIRT2649244	hsa-miR-3135b	CLIP-seq
MIRT1449410	hsa-miR-3182	CLIP-seq
MIRT2649245	hsa-miR-338-5p	CLIP-seq
MIRT2649246	hsa-miR-3670	CLIP-seq
MIRT2649247	hsa-miR-3678-3p	CLIP-seq
MIRT2649248	hsa-miR-3686	CLIP-seq
MIRT2649249	hsa-miR-3714	CLIP-seq
MIRT2649250	hsa-miR-3910	CLIP-seq
MIRT2649251	hsa-miR-3919	CLIP-seq
MIRT2649252	hsa-miR-3925-5p	CLIP-seq
MIRT2693947	hsa-miR-4298	CLIP-seq
MIRT2649253	hsa-miR-4302	CLIP-seq
MIRT2649254	hsa-miR-4434	CLIP-seq
MIRT2649255	hsa-miR-4516	CLIP-seq
MIRT2649256	hsa-miR-4521	CLIP-seq
MIRT2649257	hsa-miR-4531	CLIP-seq
MIRT1449425	hsa-miR-4639-5p	CLIP-seq
MIRT2649258	hsa-miR-4648	CLIP-seq
MIRT2649259	hsa-miR-4756-3p	CLIP-seq
MIRT2649260	hsa-miR-506	CLIP-seq
MIRT2649261	hsa-miR-550a	CLIP-seq
MIRT2649262	hsa-miR-589	CLIP-seq
MIRT2649263	hsa-miR-661	CLIP-seq
MIRT2649264	hsa-miR-760	CLIP-seq
MIRT2649265	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001725	Component	Stress fiber	IDA	12686598
GO:0003065	Process	Positive regulation of heart rate by epinephrine	ISS	17556658
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	TAS	12686598
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	12686598
GO:0005515	Function	Protein binding	IPI	16189514, 21516116, 25416956, 25910212, 26871637, 30021884, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005856	Component	Cytoskeleton	TAS	16130169
GO:0005862	Component	Muscle thin filament tropomyosin	IEA
GO:0005862	Component	Muscle thin filament tropomyosin	TAS	8205619
GO:0005884	Component	Actin filament	IBA
GO:0006937	Process	Regulation of muscle contraction	TAS	3336363
GO:0007010	Process	Cytoskeleton organization	TAS	12686598
GO:0007015	Process	Actin filament organization	IBA
GO:0008016	Process	Regulation of heart contraction	TAS	8205619
GO:0008092	Function	Cytoskeletal protein binding	IPI	17987659
GO:0008307	Function	Structural constituent of muscle	TAS	8205619
GO:0008360	Process	Regulation of cell shape	IMP	21817107
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0030017	Component	Sarcomere	TAS	16754800
GO:0030049	Process	Muscle filament sliding	ISS	11136687
GO:0030336	Process	Negative regulation of cell migration	ISS	15897890
GO:0031529	Process	Ruffle organization	ISS	15897890
GO:0032059	Component	Bleb	IMP	12686598
GO:0032587	Component	Ruffle membrane	IDA	12686598
GO:0034614	Process	Cellular response to reactive oxygen species	IEP	12686598
GO:0042060	Process	Wound healing	ISS	17721995
GO:0042802	Function	Identical protein binding	ISS
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0045214	Process	Sarcomere organization	IMP	11273725
GO:0045785	Process	Positive regulation of cell adhesion	ISS	17721995
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	ISS
GO:0051496	Process	Positive regulation of stress fiber assembly	ISS	15897890
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IMP	11136687
GO:0060048	Process	Cardiac muscle contraction	IBA
GO:0060048	Process	Cardiac muscle contraction	IMP	11136687
GO:1904706	Process	Negative regulation of vascular associated smooth muscle cell proliferation	IMP	21817107
GO:1904753	Process	Negative regulation of vascular associated smooth muscle cell migration	IMP	21817107

Other IDs

• MIM: 191010
• HGNC: 12010
• e!Ensembl: ENSG00000140416

Protein

• UniProt ID: P09493
• Protein name: Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tropomyosin-1)
• Protein function: Binds to actin filaments in muscle and non-muscle cells (PubMed:23170982). Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction (PubMed:23170982). Smooth mu
• PDB: 3MUD, 5KHT, 6UT2, 6X5Z, 7UTI, 7UTL, 8EFH, 8EFI, 8ENC, 8ZB7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00261	Tropomyosin	48 → 284	Tropomyosin	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Detected in primary breast cancer tissues but undetectable in normal breast tissues in Sudanese patients. Isoform 1 is expressed in adult and fetal skeletal muscle and cardiac tissues, with higher expression levels in the cardiac tissu
• Sequence:

  MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKY
  SEALKDAQEKLELAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAA
  DESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAE
  ERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
  FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSI

• Sequence length: 284

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Atrial septal defect 1	Likely pathogenic	rs1114167356	RCV000491210	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiomyopathy	Pathogenic; Likely pathogenic	rs104894503, rs199476315, rs199476316, rs397516373, rs397516386, rs397516363, rs1596386673, rs2031437544	RCV001170568 RCV003149576 RCV000144848 RCV000722121 RCV000159384 RCV000852460 RCV000852462 RCV001170563	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs754664923, rs104894503, rs104894504, rs199476305, rs199476306, rs199476315, rs199476316	RCV000242724 RCV000622165 RCV000619092 RCV004686570 RCV000619544 RCV002345253 RCV000617620	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dilated cardiomyopathy 1Y	Likely pathogenic; Pathogenic	rs2140963813, rs886037905, rs754664923, rs104894503, rs1206044252, rs199476316, rs199476317, rs199476311, rs397516373	RCV001594460 RCV000240649 RCV005208131 RCV001197088 RCV004017198 RCV001594373 RCV000850515 RCV001331475 RCV000679884	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Effort-induced polymorphic ventricular tachycardia	Likely pathogenic	rs879253758	RCV000234880	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cardiomyopathy	Likely pathogenic; Pathogenic	rs397516373	RCV002470728	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy	Pathogenic; Likely pathogenic	rs2140974070, rs730881131, rs727504264, rs2542806797, rs2140969490, rs754664923, rs104894502, rs104894503, rs104894504, rs2542431791, rs2140937964, rs199476305, rs199476306, rs199476315, rs199476316, rs199476317, rs199476311, rs1555409659, rs397516373, rs2035667597, rs1555409132	RCV001379127 RCV001977264 RCV000154247 RCV002302138 RCV002310619 RCV002518731 RCV002513005 RCV000474684 RCV000211870 RCV003749986 RCV003749969 RCV000768494 RCV000229431 RCV002513229 RCV000526765 RCV000168063 RCV000695968 RCV003586127 RCV000498322 RCV000694039 RCV001236859 RCV001298950	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic cardiomyopathy 1	Likely pathogenic	rs1596303148	RCV000989341	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy 3	Likely pathogenic; Pathogenic	rs730881131, rs104894502, rs104894503, rs104894504, rs199476306, rs199476315, rs199476317, rs397516373	RCV003315264 RCV000013271 RCV000013272 RCV000013273 RCV002470718 RCV000578109 RCV000850515 RCV001334675	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Left ventricular noncompaction 9	Likely pathogenic; Pathogenic	rs199476315, rs199476319, rs397516373	RCV000054795 RCV000054794 RCV000736013	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary dilated cardiomyopathy	Likely pathogenic; Pathogenic	rs727504389, rs876657662, rs104894503, rs199476315, rs199476317, rs199476311, rs397516364, rs397516370, rs397516371, rs397516373	RCV000154548 RCV000221536 RCV005401283 RCV005401287 RCV000036354 RCV000036336 RCV000036318 RCV000036328 RCV000036330 RCV000036335	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary familial hypertrophic cardiomyopathy	Pathogenic; Likely pathogenic	rs104894503, rs199476315, rs199476316	RCV000036340 RCV000208146 RCV000143959	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary atresia with intact ventricular septum	Likely pathogenic	rs1114167355	RCV000491526	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TPM1-related disorder	Pathogenic; Likely pathogenic	rs199476317, rs2031437544	RCV005249998 RCV003396783	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1Y	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 21	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	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, Dominant	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	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 21	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction	Likely benign	ClinVar Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal familial ventricular fibrillation	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	-	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	29361520	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	29709087		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	CLINVAR_DG	28359939		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	11169518		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12213212, 13679858, 17363372, 26891730		★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap Myopathy	BEFREE	24095155		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11254220		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34116652, 34850589	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32991423	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	12651045, 34319370	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	24005378, 25548289, 27082122, 28600229, 30240712		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	25548289, 29626422, 32882290, 35917600, 37569730	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CLINVAR_DG	27177193, 27532257, 28359939, 29024827, 29517769		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	11106718, 15556047, 16043485, 20117437, 23147248, 25548289, 26400351, 31689804, 32882290, 33020181, 35176663, 35917600, 36739943, 37313752	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Familial Restrictive 1	Cardiomyopathy	Pubtator	32882290	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	12679389, 16043485, 20117437, 21835320, 22447464, 23147248, 25548289, 26960954, 29361520, 29974557, 30775854, 32744700, 33642254, 34319370, 35917600, 36613463, 38002985, 39340495, 7898523, 8774330, 9060904	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic Familial	Cardiomyopathy	Pubtator	12651045, 15479242, 22958892, 7898523, 9060904, 9822100	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	21823217, 32882290	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG	11106625, 20117437, 20215591, 20530761, 21310275, 21483645		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	16043485, 17360712, 17556658, 19222994, 19646950, 21741356, 24005378, 25607779, 28600229, 31689804		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	17932326		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1y	Cardiomyopathy	UNIPROT_DG	11273725, 21551322		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1y	Cardiomyopathy	CLINVAR_DG	20117437, 21310275, 23539503, 25241052, 25525159, 25548289, 27532257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1y	Cardiomyopathy	GENOMICS_ENGLAND_DG	20186049, 27532257, 30681346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1y	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)	Cardiomyopathy	CLINVAR_DG	12860912, 16365313, 18409188, 18414213, 20031602, 20117437, 21310275, 21551322, 23396983, 23539503, 23771913, 24033266, 24510615, 25241052, 25524337, 25525159, 25548289, 25611685, 26960954, 27376658, 27532257		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)	Cardiomyopathy	UNIPROT_DG	12974739, 23170982, 7898523, 8205619, 8523464, 9822100		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)	Cardiomyopathy	GENOMICS_ENGLAND_DG	20186049, 27532257, 30681346		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)	Cardiomyopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	11273725, 12379228, 15671604, 16043485, 17556658, 19222994, 20117437, 23147248, 23539503, 24005378, 25607779, 26400351, 28379313, 28600229, 28732641, 31689804		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	CLINVAR_DG	10400910, 11606294, 12860912, 14734051, 18403758, 18409188, 18533079, 20031602, 20117437, 20965760, 21310275, 21551322, 21835320, 22112859, 22462493, 23204897, 23539503, 23700264, 23771913, 24510615, 25242052, 25524337, 25548289, 25607779, 26960954, 27177193, 27532257, 27600940, 27639548, 28600229, 28603979, 7729014, 7898523, 8205619, 8523464, 9060904, 9245729, 9822100		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	BEFREE	11359941, 11815426, 12169652, 12651045, 15031138, 17556658, 21415410, 22794249, 22958892, 23508784, 7898523, 8205619, 8675696, 9060904, 9109674, 9140840		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	LHGDN	15031138		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	CTD_human_DG	9241277		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	19367286		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	23254774, 27779677		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	30390420	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	30888054		★☆☆☆☆ Found in Text Mining only
Clubfoot	Clubfoot	Pubtator	21834041	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19678923		★☆☆☆☆ Found in Text Mining only
Conduct Disorder	Conduct disorder	Pubtator	37569730	Associate	★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	BEFREE	27020427		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	26679756		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	28359939		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	15464434, 17070539, 27177193		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25607530, 29731872, 31258725		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28359939		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30611906		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27649540		★☆☆☆☆ Found in Text Mining only
Disorder of skeletal muscle	Disorder Of Skeletal Muscle	BEFREE	11199327		★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	32744700	Associate	★☆☆☆☆ Found in Text Mining only
Ebstein Anomaly	Ebstein anomaly of the tricuspid valve	BEFREE	27177193, 29024827		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	28754317		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	CTD_human_DG	15986332		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	28754317		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	23254774		★☆☆☆☆ Found in Text Mining only
familial dilated cardiomyopathy	Dilated cardiomyopathy	Pubtator	11106718, 12651045, 20117437, 26873245	Associate	★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	11273725		★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	BEFREE	17360712, 28600229		★☆☆☆☆ Found in Text Mining only
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	25873252		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type V	Glycogen storage disease	Pubtator	35563042	Inhibit	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	28359939, 32744700	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	27177193		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	35917600	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	11106718, 37313752	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	15464434, 17070539, 27177193		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	27649540		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	10386271, 12169652, 22794249, 7493025, 8205619, 9060904, 9202846		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	22228705		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINVAR_DG	10400910, 11136687, 12473556, 12860912, 14734051, 15249230, 16014439, 16365313, 16504640, 18409188, 20031602, 21295541, 21310275, 21320446, 21376702, 21551322, 21642532, 22155441, 22187526, 22462493, 22789852, 22794249, 24510615, 25241052, 25524337, 25611685, 26960954, 27532257, 28615295, 7729014, 8205619, 8523464, 9060904, 9440709		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	10581085, 10900175, 10980884, 11136687, 11199327, 12423715, 12467750, 12473556, 12511681, 12778034, 14654368, 14734051, 15059934, 15923195, 16014439, 16043485, 17556170, 17932326, 18394456, 20117437, 21376702, 22155441, 22462493, 23147248, 24005378, 24585742, 25086479, 25607779, 28771489, 29760186, 30497761, 7546620, 7598458, 7729014, 7898523, 8523464, 8774330, 9475582, 9800880, 9822100		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINGEN_DG	11045979, 11136687, 11603924, 12423715, 12651045, 15059934, 21320446, 21376702, 23508784, 25548289, 27057166, 27532257, 7729014, 8205619, 8327508, 8523464, 8774330, 9822100		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	12169652, 17556170, 17932326		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic cardiomyopathy without obstruction	Hypertrophic cardiomyopathy	BEFREE	18394456		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	10581085, 10900175, 10980884, 11199327, 12423715, 12467750, 12473556, 12511681, 12778034, 14734051, 15059934, 15923195, 16014439, 17556170, 17932326, 18394456, 20117437, 21376702, 22462493, 25607779, 7729014, 7898523, 8523464, 8774330		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	21229884, 34319370	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	8774330, 9060904	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic hypertrophic subaortic stenosis	Hypertrophic Subaortic Stenosis	CTD_human_DG	9241277		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	23467423		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29278785		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	23254774, 30390420		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	17556170, 30497761		★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction	Left ventricular noncompaction	BEFREE	20965760		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction	Left ventricular noncompaction	ORPHANET_DG	21551322		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction	Left ventricular noncompaction	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LEFT VENTRICULAR NONCOMPACTION 9	Left ventricular noncompaction	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	BEFREE	20965760		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LEOPARD Syndrome	Leopard syndrome	Pubtator	15479242, 16043485	Associate	★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12213212, 13679858, 17363372, 26891730		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	CTD_human_DG	15986332		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	28754317		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	13679858, 19509158, 23918370, 27649540, 28276320, 29731872, 31258725		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12065096, 13679858		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	13679858		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	18627528		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	20075843		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	29278785		★☆☆☆☆ Found in Text Mining only
Myopathies Nemaline	Nemaline myopathy	Pubtator	10051637, 18716557	Associate	★☆☆☆☆ Found in Text Mining only
Myopathies, Nemaline	Myopathy	BEFREE	10587521, 10619715, 11063719, 11157795, 11199327, 11257471, 11731279, 12163017, 12196661, 12467750, 12601110, 12805120, 15367485, 17157023, 17376686, 18300303, 24095155		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	11199327		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12213212, 12527301, 13679858, 15897890, 17363372, 18270520, 19678923, 22965424, 23254774, 25607530, 27179559, 27402877, 27649540, 28182650, 28276320, 30259780, 30390420, 31258725, 9584076		★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	18697798	Associate	★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	37569730	Associate	★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-compaction cardiomyopathy	Noncompaction cardiomyopathy	BEFREE	23147248		★☆☆☆☆ Found in Text Mining only
Obstructive asymmetric septal hypertrophy	Obstructive Asymmetric Septal Hypertrophy	CTD_human_DG	9241277		★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	34696938	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28276320		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	28276320	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27402877		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	GWASCAT_DG	27402877		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	22038928		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	27976512		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	30019485		★☆☆☆☆ Found in Text Mining only
Pulmonary Atresia with Intact Ventricular Septum	Pulmonary Atresia With Intact Ventricular Septum	CLINVAR_DG	28359939		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25607530, 29731872, 31258725		★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic heart disease	Pubtator	24738046	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	28182650		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CTD_human_DG	21517111		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	22965424, 30259780		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28182650	Associate	★☆☆☆☆ Found in Text Mining only
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	29361520	Associate	★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	CLINVAR_DG	28359939		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	30461333		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	19367286	Associate	★☆☆☆☆ Found in Text Mining only
Vaginal Neoplasms	Vaginal neoplasms	Pubtator	19367286	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	26440977	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	14734051		★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	32882290, 34319370, 35917600	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	15556047	Associate	★☆☆☆☆ Found in Text Mining only