MYPN (myopalladin)

Gene

• Entrez ID: 84665
• Gene name: Myopalladin
• Gene symbol: MYPN
• Synonyms (NCBI Gene): CMD1DD, CMH22, CMYO24, CMYP24, MYOP, NEM11, RCM4
• Chromosome: 10
• Chromosome location: 10q21.3
• Summary: Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and ac

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2673793	C>G,T	Conflicting-interpretations-of-pathogenicity, benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs71534278	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance, benign-likely-benign, benign	Missense variant, coding sequence variant, non coding transcript variant
rs71534280	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant, non coding transcript variant
rs71584501	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs138313730	C>A	Benign-likely-benign, benign, likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs140148105	A>G	Conflicting-interpretations-of-pathogenicity, pathogenic, likely-benign	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs142354704	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs145142157	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs149887823	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs150911078	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, non coding transcript variant
rs151282801	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs199476401	A>C,G	Likely-pathogenic, uncertain-significance, not-provided	5 prime UTR variant, missense variant, non coding transcript variant, intron variant, coding sequence variant
rs199476408	C>G,T	Pathogenic, not-provided	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs199853307	G>C,T	Conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant, missense variant, non coding transcript variant, intron variant, coding sequence variant
rs201245117	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs786205457	C>T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs864621995	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs865921466	G>A	Likely-pathogenic	Splice acceptor variant
rs1057519570	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057519571	A>C	Pathogenic	Splice acceptor variant
rs1057519572	C>T	Uncertain-significance, pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057519573	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1589608098	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017101	hsa-miR-335-5p	Microarray	18185580
MIRT021986	hsa-miR-128-3p	Microarray	17612493
MIRT022358	hsa-miR-124-3p	Microarray	18668037
MIRT701615	hsa-miR-6771-3p	HITS-CLIP	23313552
MIRT701614	hsa-miR-3163	HITS-CLIP	23313552
MIRT701613	hsa-miR-340-3p	HITS-CLIP	23313552
MIRT701612	hsa-miR-6827-3p	HITS-CLIP	23313552
MIRT701611	hsa-miR-340-5p	HITS-CLIP	23313552
MIRT701610	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT701609	hsa-miR-508-5p	HITS-CLIP	23313552
MIRT701608	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT667295	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT667294	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT701607	hsa-miR-4793-3p	HITS-CLIP	23313552
MIRT667293	hsa-miR-1285-3p	HITS-CLIP	23313552
MIRT667292	hsa-miR-3187-5p	HITS-CLIP	23313552
MIRT667290	hsa-miR-5189-5p	HITS-CLIP	23313552
MIRT667291	hsa-miR-612	HITS-CLIP	23313552
MIRT667289	hsa-miR-6860	HITS-CLIP	23313552
MIRT701606	hsa-miR-5186	HITS-CLIP	23313552
MIRT701605	hsa-miR-4252	HITS-CLIP	23313552
MIRT667288	hsa-miR-661	HITS-CLIP	23313552
MIRT701604	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT701603	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT701602	hsa-miR-7703	HITS-CLIP	23313552
MIRT701601	hsa-miR-3609	HITS-CLIP	23313552
MIRT701600	hsa-miR-548ah-5p	HITS-CLIP	23313552
MIRT701599	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT701598	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT701597	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT701596	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT701595	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT701594	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT701593	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT701592	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT701591	hsa-miR-4796-3p	HITS-CLIP	23313552
MIRT701590	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT701589	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT701588	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT701587	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT701586	hsa-miR-302e	HITS-CLIP	23313552
MIRT701585	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT701584	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT701583	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT701582	hsa-miR-520b	HITS-CLIP	23313552
MIRT701581	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT701580	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT701579	hsa-miR-520e	HITS-CLIP	23313552
MIRT701578	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT701577	hsa-miR-5009-3p	HITS-CLIP	23313552
MIRT701576	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT701574	hsa-miR-1234-3p	HITS-CLIP	23313552
MIRT701575	hsa-miR-7107-5p	HITS-CLIP	23313552
MIRT701573	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT701571	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT701572	hsa-miR-6791-3p	HITS-CLIP	23313552
MIRT701570	hsa-miR-6829-3p	HITS-CLIP	23313552
MIRT701569	hsa-miR-4763-5p	HITS-CLIP	23313552
MIRT701568	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT701567	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT701566	hsa-miR-6511b-5p	HITS-CLIP	23313552
MIRT701565	hsa-miR-6811-5p	HITS-CLIP	23313552
MIRT701564	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT681190	hsa-miR-4756-3p	HITS-CLIP	23706177
MIRT681189	hsa-miR-143-3p	HITS-CLIP	23706177
MIRT681188	hsa-miR-4770	HITS-CLIP	23706177
MIRT681187	hsa-miR-6088	HITS-CLIP	23706177
MIRT681186	hsa-miR-4468	HITS-CLIP	23706177
MIRT681185	hsa-miR-6499-3p	HITS-CLIP	23706177
MIRT681184	hsa-miR-455-3p	HITS-CLIP	23706177
MIRT681183	hsa-miR-6516-5p	HITS-CLIP	23706177
MIRT678409	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT678408	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT678407	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT678405	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT678406	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT678404	hsa-miR-221-5p	HITS-CLIP	23824327
MIRT678403	hsa-miR-8073	HITS-CLIP	23824327
MIRT678402	hsa-miR-1281	HITS-CLIP	23824327
MIRT678401	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT678400	hsa-miR-149-5p	HITS-CLIP	23824327
MIRT678399	hsa-miR-4284	HITS-CLIP	23824327
MIRT678398	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT678397	hsa-miR-4279	HITS-CLIP	23824327
MIRT667295	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT667294	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT667293	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT667292	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT667290	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT667291	hsa-miR-612	HITS-CLIP	23824327
MIRT667289	hsa-miR-6860	HITS-CLIP	23824327
MIRT667288	hsa-miR-661	HITS-CLIP	23824327
MIRT656019	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT656018	hsa-miR-3183	HITS-CLIP	23824327
MIRT656016	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT656017	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT656015	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT656014	hsa-miR-4504	HITS-CLIP	23824327
MIRT656013	hsa-miR-8068	HITS-CLIP	23824327
MIRT656012	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT656011	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT656010	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT656009	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT656007	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT535734	hsa-miR-302f	PAR-CLIP	22012620
MIRT535733	hsa-miR-3977	PAR-CLIP	22012620
MIRT535732	hsa-miR-133a-3p	PAR-CLIP	22012620
MIRT535732	hsa-miR-133a-3p	PAR-CLIP	22012620
MIRT535731	hsa-miR-133b	PAR-CLIP	22012620
MIRT516731	hsa-miR-3681-5p	PAR-CLIP	23446348
MIRT516732	hsa-miR-6849-5p	PAR-CLIP	23446348
MIRT516730	hsa-miR-6890-5p	PAR-CLIP	23446348
MIRT516729	hsa-miR-1273f	PAR-CLIP	23446348
MIRT516728	hsa-miR-4683	PAR-CLIP	23446348
MIRT516727	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT516726	hsa-miR-4727-3p	PAR-CLIP	23446348
MIRT516725	hsa-miR-4460	PAR-CLIP	23446348
MIRT516724	hsa-miR-6788-3p	PAR-CLIP	23446348
MIRT516723	hsa-miR-1270	PAR-CLIP	23446348
MIRT516722	hsa-miR-620	PAR-CLIP	23446348
MIRT516721	hsa-miR-3170	PAR-CLIP	23446348
MIRT516720	hsa-miR-6855-5p	PAR-CLIP	23446348
MIRT516719	hsa-miR-3591-5p	PAR-CLIP	23446348
MIRT443397	hsa-miR-548e-5p	PAR-CLIP	22100165
MIRT443396	hsa-miR-3156-5p	PAR-CLIP	22100165
MIRT443395	hsa-miR-4802-3p	PAR-CLIP	22100165
MIRT443394	hsa-miR-490-5p	PAR-CLIP	22100165
MIRT443392	hsa-miR-3928-3p	PAR-CLIP	22100165
MIRT443393	hsa-miR-1261	PAR-CLIP	22100165
MIRT681189	hsa-miR-143-3p	PAR-CLIP	26701625
MIRT681189	hsa-miR-143-3p	PAR-CLIP	26701625
MIRT681186	hsa-miR-4468	PAR-CLIP	26701625
MIRT681186	hsa-miR-4468	PAR-CLIP	26701625
MIRT681184	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT681184	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT681190	hsa-miR-4756-3p	PAR-CLIP	26701625
MIRT681190	hsa-miR-4756-3p	PAR-CLIP	26701625
MIRT681188	hsa-miR-4770	PAR-CLIP	26701625
MIRT681188	hsa-miR-4770	PAR-CLIP	26701625
MIRT681187	hsa-miR-6088	PAR-CLIP	26701625
MIRT681187	hsa-miR-6088	PAR-CLIP	26701625
MIRT681185	hsa-miR-6499-3p	PAR-CLIP	26701625
MIRT681185	hsa-miR-6499-3p	PAR-CLIP	26701625
MIRT681183	hsa-miR-6516-5p	PAR-CLIP	26701625
MIRT681183	hsa-miR-6516-5p	PAR-CLIP	26701625
MIRT667288	hsa-miR-661	PAR-CLIP	26701625
MIRT667288	hsa-miR-661	PAR-CLIP	26701625
MIRT701615	hsa-miR-6771-3p	HITS-CLIP	23313552
MIRT701614	hsa-miR-3163	HITS-CLIP	23313552
MIRT701613	hsa-miR-340-3p	HITS-CLIP	23313552
MIRT701612	hsa-miR-6827-3p	HITS-CLIP	23313552
MIRT701611	hsa-miR-340-5p	HITS-CLIP	23313552
MIRT701610	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT701609	hsa-miR-508-5p	HITS-CLIP	23313552
MIRT701608	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT667295	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT667294	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT701607	hsa-miR-4793-3p	HITS-CLIP	23313552
MIRT667293	hsa-miR-1285-3p	HITS-CLIP	23313552
MIRT667292	hsa-miR-3187-5p	HITS-CLIP	23313552
MIRT667290	hsa-miR-5189-5p	HITS-CLIP	23313552
MIRT667291	hsa-miR-612	HITS-CLIP	23313552
MIRT667289	hsa-miR-6860	HITS-CLIP	23313552
MIRT701606	hsa-miR-5186	HITS-CLIP	23313552
MIRT701605	hsa-miR-4252	HITS-CLIP	23313552
MIRT667288	hsa-miR-661	HITS-CLIP	23313552
MIRT701604	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT701603	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT701602	hsa-miR-7703	HITS-CLIP	23313552
MIRT701601	hsa-miR-3609	HITS-CLIP	23313552
MIRT701600	hsa-miR-548ah-5p	HITS-CLIP	23313552
MIRT701599	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT701598	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT701597	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT701596	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT701595	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT701594	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT701593	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT701592	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT701591	hsa-miR-4796-3p	HITS-CLIP	23313552
MIRT701590	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT701589	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT701588	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT701587	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT701586	hsa-miR-302e	HITS-CLIP	23313552
MIRT701585	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT701584	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT701583	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT701582	hsa-miR-520b	HITS-CLIP	23313552
MIRT701581	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT701580	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT701579	hsa-miR-520e	HITS-CLIP	23313552
MIRT701578	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT701577	hsa-miR-5009-3p	HITS-CLIP	23313552
MIRT701576	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT701574	hsa-miR-1234-3p	HITS-CLIP	23313552
MIRT701575	hsa-miR-7107-5p	HITS-CLIP	23313552
MIRT701573	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT701571	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT701572	hsa-miR-6791-3p	HITS-CLIP	23313552
MIRT701570	hsa-miR-6829-3p	HITS-CLIP	23313552
MIRT701569	hsa-miR-4763-5p	HITS-CLIP	23313552
MIRT701568	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT701567	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT701566	hsa-miR-6511b-5p	HITS-CLIP	23313552
MIRT701565	hsa-miR-6811-5p	HITS-CLIP	23313552
MIRT701564	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT681190	hsa-miR-4756-3p	HITS-CLIP	23706177
MIRT681189	hsa-miR-143-3p	HITS-CLIP	23706177
MIRT681188	hsa-miR-4770	HITS-CLIP	23706177
MIRT681187	hsa-miR-6088	HITS-CLIP	23706177
MIRT681186	hsa-miR-4468	HITS-CLIP	23706177
MIRT681185	hsa-miR-6499-3p	HITS-CLIP	23706177
MIRT681184	hsa-miR-455-3p	HITS-CLIP	23706177
MIRT681183	hsa-miR-6516-5p	HITS-CLIP	23706177
MIRT678409	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT678408	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT678407	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT678405	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT678406	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT678404	hsa-miR-221-5p	HITS-CLIP	23824327
MIRT678403	hsa-miR-8073	HITS-CLIP	23824327
MIRT678402	hsa-miR-1281	HITS-CLIP	23824327
MIRT678401	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT678400	hsa-miR-149-5p	HITS-CLIP	23824327
MIRT678399	hsa-miR-4284	HITS-CLIP	23824327
MIRT678398	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT678397	hsa-miR-4279	HITS-CLIP	23824327
MIRT667295	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT667294	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT667293	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT667292	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT667290	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT667291	hsa-miR-612	HITS-CLIP	23824327
MIRT667289	hsa-miR-6860	HITS-CLIP	23824327
MIRT667288	hsa-miR-661	HITS-CLIP	23824327
MIRT656019	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT656018	hsa-miR-3183	HITS-CLIP	23824327
MIRT656016	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT656017	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT656015	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT656014	hsa-miR-4504	HITS-CLIP	23824327
MIRT656013	hsa-miR-8068	HITS-CLIP	23824327
MIRT656012	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT656011	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT656010	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT656009	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT656007	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT535734	hsa-miR-302f	PAR-CLIP	22012620
MIRT535733	hsa-miR-3977	PAR-CLIP	22012620
MIRT535732	hsa-miR-133a-3p	PAR-CLIP	22012620
MIRT535732	hsa-miR-133a-3p	PAR-CLIP	22012620
MIRT535731	hsa-miR-133b	PAR-CLIP	22012620
MIRT516731	hsa-miR-3681-5p	PAR-CLIP	23446348
MIRT516732	hsa-miR-6849-5p	PAR-CLIP	23446348
MIRT516730	hsa-miR-6890-5p	PAR-CLIP	23446348
MIRT516729	hsa-miR-1273f	PAR-CLIP	23446348
MIRT516728	hsa-miR-4683	PAR-CLIP	23446348
MIRT516727	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT516726	hsa-miR-4727-3p	PAR-CLIP	23446348
MIRT516725	hsa-miR-4460	PAR-CLIP	23446348
MIRT516724	hsa-miR-6788-3p	PAR-CLIP	23446348
MIRT516723	hsa-miR-1270	PAR-CLIP	23446348
MIRT516722	hsa-miR-620	PAR-CLIP	23446348
MIRT516721	hsa-miR-3170	PAR-CLIP	23446348
MIRT516720	hsa-miR-6855-5p	PAR-CLIP	23446348
MIRT516719	hsa-miR-3591-5p	PAR-CLIP	23446348
MIRT443397	hsa-miR-548e-5p	PAR-CLIP	22100165
MIRT443396	hsa-miR-3156-5p	PAR-CLIP	22100165
MIRT443395	hsa-miR-4802-3p	PAR-CLIP	22100165
MIRT443394	hsa-miR-490-5p	PAR-CLIP	22100165
MIRT443392	hsa-miR-3928-3p	PAR-CLIP	22100165
MIRT443393	hsa-miR-1261	PAR-CLIP	22100165
MIRT2049091	hsa-miR-150	CLIP-seq
MIRT2049092	hsa-miR-214	CLIP-seq
MIRT2049093	hsa-miR-216a	CLIP-seq
MIRT2049094	hsa-miR-3127-3p	CLIP-seq
MIRT2049095	hsa-miR-3619-5p	CLIP-seq
MIRT2049096	hsa-miR-3692	CLIP-seq
MIRT2049097	hsa-miR-3938	CLIP-seq
MIRT2049098	hsa-miR-3941	CLIP-seq
MIRT2049099	hsa-miR-4272	CLIP-seq
MIRT2049100	hsa-miR-4305	CLIP-seq
MIRT2049101	hsa-miR-4519	CLIP-seq
MIRT2049102	hsa-miR-466	CLIP-seq
MIRT2049103	hsa-miR-4672	CLIP-seq
MIRT2049104	hsa-miR-4713-5p	CLIP-seq
MIRT2049105	hsa-miR-532-3p	CLIP-seq
MIRT2049106	hsa-miR-600	CLIP-seq
MIRT2049107	hsa-miR-761	CLIP-seq
MIRT2278169	hsa-miR-1271	CLIP-seq
MIRT2278170	hsa-miR-1324	CLIP-seq
MIRT2049091	hsa-miR-150	CLIP-seq
MIRT2278171	hsa-miR-218	CLIP-seq
MIRT2278172	hsa-miR-29a	CLIP-seq
MIRT2278173	hsa-miR-29b	CLIP-seq
MIRT2278174	hsa-miR-29c	CLIP-seq
MIRT2278175	hsa-miR-3065-3p	CLIP-seq
MIRT2049094	hsa-miR-3127-3p	CLIP-seq
MIRT2278176	hsa-miR-330-3p	CLIP-seq
MIRT2049096	hsa-miR-3692	CLIP-seq
MIRT2049097	hsa-miR-3938	CLIP-seq
MIRT2278177	hsa-miR-4263	CLIP-seq
MIRT2049104	hsa-miR-4713-5p	CLIP-seq
MIRT2049105	hsa-miR-532-3p	CLIP-seq
MIRT2278178	hsa-miR-636	CLIP-seq
MIRT2278179	hsa-miR-96	CLIP-seq
MIRT2454746	hsa-miR-1238	CLIP-seq
MIRT2049091	hsa-miR-150	CLIP-seq
MIRT2049094	hsa-miR-3127-3p	CLIP-seq
MIRT2049096	hsa-miR-3692	CLIP-seq
MIRT2049097	hsa-miR-3938	CLIP-seq
MIRT2049104	hsa-miR-4713-5p	CLIP-seq
MIRT2049105	hsa-miR-532-3p	CLIP-seq
MIRT2049091	hsa-miR-150	CLIP-seq
MIRT2049094	hsa-miR-3127-3p	CLIP-seq
MIRT2049096	hsa-miR-3692	CLIP-seq
MIRT2049097	hsa-miR-3938	CLIP-seq
MIRT2049104	hsa-miR-4713-5p	CLIP-seq
MIRT2049105	hsa-miR-532-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	11309420, 12482578
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IBA
GO:0007411	Process	Axon guidance	IBA
GO:0008092	Function	Cytoskeletal protein binding	IPI	11309420
GO:0017124	Function	SH3 domain binding	IPI	11309420
GO:0030017	Component	Sarcomere	IEA
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	IDA	11309420
GO:0030018	Component	Z disc	IDA	28017374
GO:0030018	Component	Z disc	IEA
GO:0030018	Component	Z disc	IEA
GO:0030424	Component	Axon	IBA
GO:0031674	Component	I band	IDA	11309420
GO:0031674	Component	I band	IEA
GO:0045214	Process	Sarcomere organization	IMP	11309420
GO:0051371	Function	Muscle alpha-actinin binding	IEA
GO:0051371	Function	Muscle alpha-actinin binding	IPI	11309420
GO:0070593	Process	Dendrite self-avoidance	IBA
GO:0098632	Function	Cell-cell adhesion mediator activity	IBA

Other IDs

• MIM: 608517
• HGNC: 23246
• e!Ensembl: ENSG00000138347

Protein

• UniProt ID: Q86TC9
• Protein name: Myopalladin (145 kDa sarcomeric protein)
• Protein function: Component of the sarcomere that tethers together nebulin (skeletal muscle) and nebulette (cardiac muscle) to alpha-actinin, at the Z lines.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07679	I-set	269 → 358	Immunoglobulin I-set domain	Domain
  PF07679	I-set	435 → 532	Immunoglobulin I-set domain	Domain
  PF07679	I-set	945 → 1036	Immunoglobulin I-set domain	Domain
  PF07679	I-set	1073 → 1163	Immunoglobulin I-set domain	Domain
  PF07679	I-set	1172 → 1263	Immunoglobulin I-set domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in adult skeletal muscle and fetal heart. {ECO:0000269|PubMed:11309420}.
• Sequence:

  MQDDSIEASTSISQLLRESYLAETRHRGNNERSRAEPSSNPCHFGSPSGAAEGGGGQDDL
  PDLSAFLSQEELDESVNLARLAINYDPLEKADETQARKRLSPDQMKHSPNLSFEPNFCQD
  NPRSPTSSKESPQEAKRPQYCSETQSKKVFLNKAADFIEELSSLFKSHSSKRIRPRACKN
  HKSKLESQNKVMQENSSSFSDLSERRERSSVPIPIPADTRDNEVNHALEQQEAKRREAEQ
  AASEAAGGDTTPGSSPSSLYYEEPLGQPPRFTQKLRSREVPEGTRVQLDCIVVGIPPPQV
  RWYCEGKELENSPDIHIVQAGNLHSLTIAEAFEEDTGRYSCFASNIYGTDSTSAEIYIEG
  VSSSDSEGDPNKEEMNRIQKPNEVSSPPTTSAVIPPAVPQAQHLVAQPRVATIQQCQSPT
  NYLQGLDGKPIIAAPVFTKMLQNLSASEGQLVVFECRVKGAPSPKVEWYREGTLIEDSPD
  FRILQKKPRSMAEPEEICTLVIAEVFAEDSGCFTCTASNKYGTVSSIAQLHVRGNEDLSN
  NGSLHSANSTTNLAAIEPQPSPPHSEPPSVEQPPKPKLEGVLVNHNEPRSSSRIGLRVHF
  NLPEDDKGSEASSEAGVVTTRQTRPDSFQERFNGQATKTPEPSSPVKEPPPVLAKPKLDS
  TQLQQLHNQVLLEQHQLQNPPPSSPKEFPFSMTVLNSNAPPAVTTSSKQVKAPSSQTFSL
  ARPKYFFPSTNTTAATVAPSSSPVFTLSSTPQTIQRTVSKESLLVSHPSVQTKSPGGLSI
  QNEPLPPGPTEPTPPPFTFSIPSGNQFQPRCVSPIPVSPTSRIQNPVAFLSSVLPSLPAI
  PPTNAMGLPRSAPSMPSQGLAKKNTKSPQPVNDDNIRETKNAVIRDLGKKITFSDVRPNQ
  QEYKISSFEQRLMNEIEFRLERTPVDESDDEIQHDEIPTGKCIAPIFDKRLKHFRVTEGS
  PVTFTCKIVGIPVPKVYWFKDGKQISKRNEHCKMRREGDGTCSLHIESTTSDDDGNYTIM
  AANPQGRISCSGHLMVQSLPIRSRLTSAGQSHRGRSRVQERDKEPLQERFFRPHFLQAPG
  DMVAHEGRLCRLDCKVSGLPPPELTWLLNGQPVLPDASHKMLVRETGVHSLLIDPLTQRD
  AGTYKCIATNKTGQNSFSLELSVVAKEVKKAPVILEKLQNCGVPEGHPVRLECRVIGMPP
  PVFYWKKDNETIPCTRERISMHQDTTGYACLLIQPAKKSDAGWYTLSAKNEAGIVSCTAR
  LDIYAQWHHQIPPPMSVRPSGSRYGSLTSKGLDIFSAFSSMESTMVYSCSSRSVVESDEL
  

• Sequence length: 1320

Pathways

KEGG:

Cytoskeleton in muscle cells

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
Cardiomyopathy, familial restrictive, 4	Pathogenic	rs199476408	RCV000043547	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs2495676595, rs772657844, rs753094063, rs2495701378, rs2495590778, rs2495728963, rs2495796729, rs781261060	RCV002389410 RCV002437430 RCV002442257 RCV004068824 RCV003306298 RCV003306304 RCV004519870 RCV004649146	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital myopathy	Likely pathogenic	rs766502564	RCV004774613	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dilated cardiomyopathy 1KK	Likely pathogenic; Pathogenic	rs746850858, rs2134300034, rs2134198422, rs766502564, rs2134278222, rs2134204980, rs2134169413, rs2134168183, rs2133995502, rs2495465932, rs753094063, rs2495701378, rs2495461148, rs2495804503, rs2495467126, rs113820929, rs2495590514, rs2496022254, rs2495966840, rs2495738570, rs2495791969, rs2495735152, rs2495965716, rs2495951388, rs1187427685, rs2496022258, rs1057519573, rs865921466, rs1589608098, rs1327758535	RCV002050379 RCV001932273 RCV001997111 RCV002023592 RCV001946555 RCV001958638 RCV001879410 RCV001887724 RCV002052192 RCV002288287 RCV003102947 RCV002610555 RCV002643086 RCV002863132 RCV002848214 RCV002893968 RCV002877431 RCV003034262 RCV003034623 RCV003054060 RCV003581130 RCV003582952 RCV003583016 RCV003741693 RCV003848463 RCV003874997 RCV001389633 RCV000710036 RCV000818659 RCV001204026	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melanoma	Likely pathogenic	rs865921466	RCV005901766	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYPN-related disorder	Likely pathogenic	rs2495675414, rs2495951071, rs1298376008	RCV003404288 RCV003421158 RCV003901535	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYPN-related myopathy	Likely pathogenic; Pathogenic	rs2495459534, rs2495701378, rs2134168183, rs2495738570, rs2495790637, rs1057519570, rs1057519571, rs781261060, rs1057519573	RCV002471296 RCV005409906 RCV004820914 RCV003319294 RCV003319295 RCV000417052 RCV000417065 RCV000417047 RCV000417040	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nemaline myopathy	Pathogenic	rs778885362	RCV004587629	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic right ventricular cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cap myopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1KK	—	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, 22	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL IDIOPATHIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, familial restrictive, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD-ONSET NEMALINE MYOPATHY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYOPATHY 24	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1A	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial hypertrophic cardiomyopathy 22	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ 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 ISOLATED RESTRICTIVE CARDIOMYOPATHY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, 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	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic cardiomyopathy 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular hypertrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction cardiomyopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
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
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHIES, NEMALINE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial dilated cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restrictive cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden unexplained death	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Block	Atrioventricular block	Pubtator	31524317	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap Myopathy	BEFREE	28220527, 31133047, 31647200		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cap Myopathy	Cap Myopathy	ORPHANET_DG	28220527		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cap myopathy	Cap Myopathy	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cap Myopathy	Cap myopathy	Pubtator	31133047	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	33048956	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	7900239		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	22286171, 28220527, 31133047		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	31133047	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	22892539, 26458567, 30764827, 31524317	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	28427417	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	30953456, 31133047	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	18006477		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	22892539, 31524317		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1KK	Cardiomyopathy	UNIPROT_DG	18006477, 22286171, 22892539		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1KK	Cardiomyopathy	CLINVAR_DG	22286171		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1KK	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1KK	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22	Hypertrophic cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	18006477, 19525294, 22892539, 26458567		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)	Cardiomyopathy	BEFREE	22286171		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4	CARDIOMYOPATHY	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Childhood-onset nemaline myopathy	Nemaline myopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholecystolithiasis	Cholecystolithiasis	GWASDB_DG	17632509		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	GWASDB_DG	17632509		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	31133047	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	31524317	Associate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	18006477, 22892539		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated restrictive cardiomyopathy	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
Glioma	Glioma	Pubtator	37192718	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	31524317	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINGEN_DG	11309420, 22286171		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	28427417		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	28427417		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ 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 ovary	Ovarian cancer	BEFREE	7900239		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathies Nemaline	Nemaline myopathy	Pubtator	31133047	Associate	★☆☆☆☆ Found in Text Mining only
Myopathies, Nemaline	Myopathy	BEFREE	28017374		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	BEFREE	28220527		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	31133047	Associate	★☆☆☆☆ Found in Text Mining only
NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE	Nemaline myopathy	GENOMICS_ENGLAND_DG	28017374		★☆☆☆☆ Found in Text Mining only
NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE	Nemaline myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Nemaline Myopathy, Childhood Onset	Nemaline myopathy	ORPHANET_DG	28017374		★☆☆☆☆ Found in Text Mining only
Neuromuscular dysphagia	Neuromuscular dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Other restrictive cardiomyopathy	Restrictive cardiomyopathy	ORPHANET_DG	22286171		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	7900239		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	33048956	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	30061737		★☆☆☆☆ Found in Text Mining only
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	25854761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Restrictive cardiomyopathy	Restrictive cardiomyopathy	BEFREE	25541130, 31647200		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Short Qt Syndrome	Short QT Syndrome	BEFREE	28427417		★☆☆☆☆ Found in Text Mining only
Short QT Syndrome 1	Short qt syndrome	Pubtator	28427417	Associate	★☆☆☆☆ Found in Text Mining only
Sinus Tachycardia	Sinus Tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only