MYBPC1 (myosin binding protein C1)

Gene

• Entrez ID: 4604
• Gene name: Myosin binding protein C1
• Gene symbol: MYBPC1
• Synonyms (NCBI Gene): CMYO16, CMYP16, LCCS4, MYBPCC, MYBPCS, MYOTREM, ssMyBP-C
• Chromosome: 12
• Chromosome location: 12q23.2
• Summary: This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skel

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs199628742	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs387906657	T>C	Pathogenic	Missense variant, coding sequence variant
rs397515422	C>T	Pathogenic	Stop gained, coding sequence variant
rs564856283	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs1421405659	T>C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1565943228	T>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1593846841	T>C	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028918	hsa-miR-26b-5p	Microarray	19088304
MIRT038283	hsa-miR-130b-5p	CLASH	23622248
MIRT610065	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT610064	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT610063	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT610062	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT610061	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT610060	hsa-miR-612	HITS-CLIP	23824327
MIRT610059	hsa-miR-6860	HITS-CLIP	23824327
MIRT610056	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT610055	hsa-miR-4470	HITS-CLIP	23824327
MIRT610054	hsa-miR-7159-5p	HITS-CLIP	23824327
MIRT610053	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT610052	hsa-miR-421	HITS-CLIP	23824327
MIRT610051	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT610050	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT610049	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT610048	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT644601	hsa-miR-1298-3p	HITS-CLIP	23824327
MIRT610065	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT610064	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT610063	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT610062	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT610061	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT610060	hsa-miR-612	HITS-CLIP	23824327
MIRT610059	hsa-miR-6860	HITS-CLIP	23824327
MIRT610058	hsa-miR-4486	HITS-CLIP	23824327
MIRT610057	hsa-miR-378g	HITS-CLIP	23824327
MIRT610056	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT610055	hsa-miR-4470	HITS-CLIP	23824327
MIRT610054	hsa-miR-7159-5p	HITS-CLIP	23824327
MIRT610053	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT610052	hsa-miR-421	HITS-CLIP	23824327
MIRT610050	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT610049	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT610048	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT610065	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT610064	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT610063	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT610062	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT610061	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT610060	hsa-miR-612	HITS-CLIP	23824327
MIRT610059	hsa-miR-6860	HITS-CLIP	23824327
MIRT610056	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT610055	hsa-miR-4470	HITS-CLIP	23824327
MIRT610054	hsa-miR-7159-5p	HITS-CLIP	23824327
MIRT610053	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT610052	hsa-miR-421	HITS-CLIP	23824327
MIRT610051	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT610050	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT610049	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT610048	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT610065	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT610064	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT610056	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT610055	hsa-miR-4470	HITS-CLIP	23824327
MIRT610054	hsa-miR-7159-5p	HITS-CLIP	23824327
MIRT610053	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT610052	hsa-miR-421	HITS-CLIP	23824327
MIRT610051	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT610050	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT610049	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT610048	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT610065	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT610064	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT610063	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT610062	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT610061	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT610060	hsa-miR-612	HITS-CLIP	23824327
MIRT610059	hsa-miR-6860	HITS-CLIP	23824327
MIRT610056	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT610055	hsa-miR-4470	HITS-CLIP	23824327
MIRT610054	hsa-miR-7159-5p	HITS-CLIP	23824327
MIRT610053	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT610052	hsa-miR-421	HITS-CLIP	23824327
MIRT610051	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT610050	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT610049	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT610048	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT610065	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT610064	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT610056	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT610055	hsa-miR-4470	HITS-CLIP	23824327
MIRT610054	hsa-miR-7159-5p	HITS-CLIP	23824327
MIRT610053	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT610052	hsa-miR-421	HITS-CLIP	23824327
MIRT610051	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT610050	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT610049	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT610048	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT610065	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT610064	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT610056	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT610055	hsa-miR-4470	HITS-CLIP	23824327
MIRT610053	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT610052	hsa-miR-421	HITS-CLIP	23824327
MIRT610051	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT610050	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT610049	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT610048	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT610065	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT610064	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT610056	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT610055	hsa-miR-4470	HITS-CLIP	23824327
MIRT610054	hsa-miR-7159-5p	HITS-CLIP	23824327
MIRT610053	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT610052	hsa-miR-421	HITS-CLIP	23824327
MIRT610051	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT610050	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT610049	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT610048	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT610065	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT610064	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT610056	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT610055	hsa-miR-4470	HITS-CLIP	23824327
MIRT610054	hsa-miR-7159-5p	HITS-CLIP	23824327
MIRT610053	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT610052	hsa-miR-421	HITS-CLIP	23824327
MIRT610051	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT610050	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT610049	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT610048	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT610065	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT610064	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT610056	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT610055	hsa-miR-4470	HITS-CLIP	23824327
MIRT610053	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT610052	hsa-miR-421	HITS-CLIP	23824327
MIRT610051	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT610050	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT610049	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT610048	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT610065	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT610064	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT610063	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT610062	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT610061	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT610060	hsa-miR-612	HITS-CLIP	23824327
MIRT610059	hsa-miR-6860	HITS-CLIP	23824327
MIRT610058	hsa-miR-4486	HITS-CLIP	23824327
MIRT610057	hsa-miR-378g	HITS-CLIP	23824327
MIRT610056	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT610055	hsa-miR-4470	HITS-CLIP	23824327
MIRT610054	hsa-miR-7159-5p	HITS-CLIP	23824327
MIRT610053	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT610052	hsa-miR-421	HITS-CLIP	23824327
MIRT610051	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT610050	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT610049	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT610048	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT570998	hsa-miR-3662	HITS-CLIP	24906430
MIRT570997	hsa-miR-8084	HITS-CLIP	24906430
MIRT608290	hsa-miR-7153-3p	HITS-CLIP	24906430
MIRT570996	hsa-miR-1272	HITS-CLIP	24906430
MIRT608289	hsa-miR-4789-5p	HITS-CLIP	24906430
MIRT570993	hsa-miR-7156-3p	HITS-CLIP	24906430
MIRT608288	hsa-miR-6505-5p	HITS-CLIP	24906430
MIRT570998	hsa-miR-3662	PAR-CLIP	20371350
MIRT570997	hsa-miR-8084	PAR-CLIP	20371350
MIRT570996	hsa-miR-1272	PAR-CLIP	20371350
MIRT570995	hsa-miR-1206	PAR-CLIP	20371350
MIRT570994	hsa-miR-6516-3p	PAR-CLIP	20371350
MIRT570993	hsa-miR-7156-3p	PAR-CLIP	20371350
MIRT543938	hsa-miR-3646	PAR-CLIP	21572407
MIRT527639	hsa-miR-1252-3p	PAR-CLIP	21572407
MIRT527638	hsa-miR-4506	PAR-CLIP	21572407
MIRT527637	hsa-miR-875-5p	PAR-CLIP	21572407
MIRT527636	hsa-miR-4495	PAR-CLIP	21572407
MIRT527635	hsa-miR-4424	PAR-CLIP	21572407
MIRT527634	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT527633	hsa-miR-107	PAR-CLIP	21572407
MIRT527632	hsa-miR-3944-5p	PAR-CLIP	21572407
MIRT527631	hsa-miR-569	PAR-CLIP	21572407
MIRT527630	hsa-miR-3144-3p	PAR-CLIP	21572407
MIRT527629	hsa-miR-6741-5p	PAR-CLIP	21572407
MIRT527639	hsa-miR-1252-3p	PAR-CLIP	22012620
MIRT527638	hsa-miR-4506	PAR-CLIP	22012620
MIRT527637	hsa-miR-875-5p	PAR-CLIP	22012620
MIRT527636	hsa-miR-4495	PAR-CLIP	22012620
MIRT527635	hsa-miR-4424	PAR-CLIP	22012620
MIRT527634	hsa-miR-103a-3p	PAR-CLIP	22012620
MIRT527633	hsa-miR-107	PAR-CLIP	22012620
MIRT527632	hsa-miR-3944-5p	PAR-CLIP	22012620
MIRT527631	hsa-miR-569	PAR-CLIP	22012620
MIRT527630	hsa-miR-3144-3p	PAR-CLIP	22012620
MIRT527629	hsa-miR-6741-5p	PAR-CLIP	22012620
MIRT515657	hsa-miR-548ac	PAR-CLIP	23446348
MIRT515656	hsa-miR-548bb-3p	PAR-CLIP	23446348
MIRT515655	hsa-miR-548d-3p	PAR-CLIP	23446348
MIRT515654	hsa-miR-548h-3p	PAR-CLIP	23446348
MIRT515653	hsa-miR-548z	PAR-CLIP	23446348
MIRT515652	hsa-miR-548ae-3p	PAR-CLIP	23446348
MIRT515651	hsa-miR-548ah-3p	PAR-CLIP	23446348
MIRT515650	hsa-miR-548aj-3p	PAR-CLIP	23446348
MIRT515649	hsa-miR-548am-3p	PAR-CLIP	23446348
MIRT515648	hsa-miR-548aq-3p	PAR-CLIP	23446348
MIRT515647	hsa-miR-548j-3p	PAR-CLIP	23446348
MIRT515646	hsa-miR-548x-3p	PAR-CLIP	23446348
MIRT515645	hsa-miR-548c-3p	PAR-CLIP	23446348
MIRT515644	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT515643	hsa-miR-3163	PAR-CLIP	23446348
MIRT515642	hsa-miR-369-3p	PAR-CLIP	23446348
MIRT515641	hsa-miR-5692b	PAR-CLIP	23446348
MIRT515640	hsa-miR-5692c	PAR-CLIP	23446348
MIRT515639	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT515638	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT515637	hsa-miR-374a-5p	PAR-CLIP	23446348
MIRT515636	hsa-miR-374b-5p	PAR-CLIP	23446348
MIRT515635	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT610064	hsa-miR-1236-3p	HITS-CLIP	28735896
MIRT610052	hsa-miR-421	HITS-CLIP	28735896
MIRT610051	hsa-miR-4753-3p	HITS-CLIP	28735896
MIRT610050	hsa-miR-4768-5p	HITS-CLIP	28735896
MIRT610053	hsa-miR-505-3p	HITS-CLIP	28735896
MIRT610065	hsa-miR-6515-3p	HITS-CLIP	28735896
MIRT610056	hsa-miR-676-5p	HITS-CLIP	28735896
MIRT610048	hsa-miR-6809-3p	HITS-CLIP	28735896
MIRT610049	hsa-miR-6833-3p	HITS-CLIP	28735896
MIRT610054	hsa-miR-7159-5p	HITS-CLIP	28735896
MIRT610065	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT610064	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT610063	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT610062	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT610061	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT610060	hsa-miR-612	HITS-CLIP	23824327
MIRT610059	hsa-miR-6860	HITS-CLIP	23824327
MIRT610056	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT610055	hsa-miR-4470	HITS-CLIP	23824327
MIRT610054	hsa-miR-7159-5p	HITS-CLIP	23824327
MIRT610053	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT610052	hsa-miR-421	HITS-CLIP	23824327
MIRT610051	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT610050	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT610049	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT610048	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT644601	hsa-miR-1298-3p	HITS-CLIP	23824327
MIRT610065	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT610064	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT610063	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT610062	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT610061	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT610060	hsa-miR-612	HITS-CLIP	23824327
MIRT610059	hsa-miR-6860	HITS-CLIP	23824327
MIRT610058	hsa-miR-4486	HITS-CLIP	23824327
MIRT610057	hsa-miR-378g	HITS-CLIP	23824327
MIRT610056	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT610055	hsa-miR-4470	HITS-CLIP	23824327
MIRT610054	hsa-miR-7159-5p	HITS-CLIP	23824327
MIRT610053	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT610052	hsa-miR-421	HITS-CLIP	23824327
MIRT610050	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT610049	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT610048	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT610065	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT610064	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT610063	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT610062	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT610061	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT610060	hsa-miR-612	HITS-CLIP	23824327
MIRT610059	hsa-miR-6860	HITS-CLIP	23824327
MIRT610056	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT610055	hsa-miR-4470	HITS-CLIP	23824327
MIRT610054	hsa-miR-7159-5p	HITS-CLIP	23824327
MIRT610053	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT610052	hsa-miR-421	HITS-CLIP	23824327
MIRT610051	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT610050	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT610049	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT610048	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT610065	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT610064	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT610056	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT610055	hsa-miR-4470	HITS-CLIP	23824327
MIRT610054	hsa-miR-7159-5p	HITS-CLIP	23824327
MIRT610053	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT610052	hsa-miR-421	HITS-CLIP	23824327
MIRT610051	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT610050	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT610049	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT610048	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT610065	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT610064	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT610063	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT610062	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT610061	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT610060	hsa-miR-612	HITS-CLIP	23824327
MIRT610059	hsa-miR-6860	HITS-CLIP	23824327
MIRT610056	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT610055	hsa-miR-4470	HITS-CLIP	23824327
MIRT610054	hsa-miR-7159-5p	HITS-CLIP	23824327
MIRT610053	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT610052	hsa-miR-421	HITS-CLIP	23824327
MIRT610051	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT610050	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT610049	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT610048	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT610065	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT610064	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT610056	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT610055	hsa-miR-4470	HITS-CLIP	23824327
MIRT610054	hsa-miR-7159-5p	HITS-CLIP	23824327
MIRT610053	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT610052	hsa-miR-421	HITS-CLIP	23824327
MIRT610051	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT610050	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT610049	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT610048	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT610065	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT610064	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT610056	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT610055	hsa-miR-4470	HITS-CLIP	23824327
MIRT610053	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT610052	hsa-miR-421	HITS-CLIP	23824327
MIRT610051	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT610050	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT610049	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT610048	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT610065	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT610064	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT610056	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT610055	hsa-miR-4470	HITS-CLIP	23824327
MIRT610054	hsa-miR-7159-5p	HITS-CLIP	23824327
MIRT610053	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT610052	hsa-miR-421	HITS-CLIP	23824327
MIRT610051	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT610050	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT610049	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT610048	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT610065	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT610064	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT610056	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT610055	hsa-miR-4470	HITS-CLIP	23824327
MIRT610054	hsa-miR-7159-5p	HITS-CLIP	23824327
MIRT610053	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT610052	hsa-miR-421	HITS-CLIP	23824327
MIRT610051	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT610050	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT610049	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT610048	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT610065	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT610064	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT610056	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT610055	hsa-miR-4470	HITS-CLIP	23824327
MIRT610053	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT610052	hsa-miR-421	HITS-CLIP	23824327
MIRT610051	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT610050	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT610049	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT610048	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT610065	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT610064	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT610063	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT610062	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT610061	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT610060	hsa-miR-612	HITS-CLIP	23824327
MIRT610059	hsa-miR-6860	HITS-CLIP	23824327
MIRT610058	hsa-miR-4486	HITS-CLIP	23824327
MIRT610057	hsa-miR-378g	HITS-CLIP	23824327
MIRT610056	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT610055	hsa-miR-4470	HITS-CLIP	23824327
MIRT610054	hsa-miR-7159-5p	HITS-CLIP	23824327
MIRT610053	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT610052	hsa-miR-421	HITS-CLIP	23824327
MIRT610051	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT610050	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT610049	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT610048	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT570998	hsa-miR-3662	PAR-CLIP	20371350
MIRT570997	hsa-miR-8084	PAR-CLIP	20371350
MIRT570996	hsa-miR-1272	PAR-CLIP	20371350
MIRT570995	hsa-miR-1206	PAR-CLIP	20371350
MIRT570994	hsa-miR-6516-3p	PAR-CLIP	20371350
MIRT570993	hsa-miR-7156-3p	PAR-CLIP	20371350
MIRT543938	hsa-miR-3646	PAR-CLIP	21572407
MIRT527639	hsa-miR-1252-3p	PAR-CLIP	21572407
MIRT527638	hsa-miR-4506	PAR-CLIP	21572407
MIRT527637	hsa-miR-875-5p	PAR-CLIP	21572407
MIRT527636	hsa-miR-4495	PAR-CLIP	21572407
MIRT527635	hsa-miR-4424	PAR-CLIP	21572407
MIRT527634	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT527633	hsa-miR-107	PAR-CLIP	21572407
MIRT527632	hsa-miR-3944-5p	PAR-CLIP	21572407
MIRT527631	hsa-miR-569	PAR-CLIP	21572407
MIRT527630	hsa-miR-3144-3p	PAR-CLIP	21572407
MIRT527629	hsa-miR-6741-5p	PAR-CLIP	21572407
MIRT527639	hsa-miR-1252-3p	PAR-CLIP	22012620
MIRT527638	hsa-miR-4506	PAR-CLIP	22012620
MIRT527637	hsa-miR-875-5p	PAR-CLIP	22012620
MIRT527636	hsa-miR-4495	PAR-CLIP	22012620
MIRT527635	hsa-miR-4424	PAR-CLIP	22012620
MIRT527634	hsa-miR-103a-3p	PAR-CLIP	22012620
MIRT527633	hsa-miR-107	PAR-CLIP	22012620
MIRT527632	hsa-miR-3944-5p	PAR-CLIP	22012620
MIRT527631	hsa-miR-569	PAR-CLIP	22012620
MIRT527630	hsa-miR-3144-3p	PAR-CLIP	22012620
MIRT527629	hsa-miR-6741-5p	PAR-CLIP	22012620
MIRT515657	hsa-miR-548ac	PAR-CLIP	23446348
MIRT515656	hsa-miR-548bb-3p	PAR-CLIP	23446348
MIRT515655	hsa-miR-548d-3p	PAR-CLIP	23446348
MIRT515654	hsa-miR-548h-3p	PAR-CLIP	23446348
MIRT515653	hsa-miR-548z	PAR-CLIP	23446348
MIRT515652	hsa-miR-548ae-3p	PAR-CLIP	23446348
MIRT515651	hsa-miR-548ah-3p	PAR-CLIP	23446348
MIRT515650	hsa-miR-548aj-3p	PAR-CLIP	23446348
MIRT515649	hsa-miR-548am-3p	PAR-CLIP	23446348
MIRT515648	hsa-miR-548aq-3p	PAR-CLIP	23446348
MIRT515647	hsa-miR-548j-3p	PAR-CLIP	23446348
MIRT515646	hsa-miR-548x-3p	PAR-CLIP	23446348
MIRT515645	hsa-miR-548c-3p	PAR-CLIP	23446348
MIRT515644	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT515643	hsa-miR-3163	PAR-CLIP	23446348
MIRT515642	hsa-miR-369-3p	PAR-CLIP	23446348
MIRT515641	hsa-miR-5692b	PAR-CLIP	23446348
MIRT515640	hsa-miR-5692c	PAR-CLIP	23446348
MIRT515639	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT515638	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT515637	hsa-miR-374a-5p	PAR-CLIP	23446348
MIRT515636	hsa-miR-374b-5p	PAR-CLIP	23446348
MIRT515635	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT1922856	hsa-miR-1236	CLIP-seq
MIRT2391238	hsa-miR-2467-3p	CLIP-seq
MIRT2391239	hsa-miR-3678-3p	CLIP-seq
MIRT2391240	hsa-miR-4645-3p	CLIP-seq
MIRT2391241	hsa-miR-4676-5p	CLIP-seq
MIRT2391242	hsa-miR-4755-3p	CLIP-seq
MIRT2391243	hsa-miR-575	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	23414517
GO:0005829	Component	Cytosol	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0008307	Function	Structural constituent of muscle	IEA
GO:0008307	Function	Structural constituent of muscle	TAS	8375400
GO:0017022	Function	Myosin binding	IDA	31025394, 31264822
GO:0017022	Function	Myosin binding	IEA
GO:0030016	Component	Myofibril	ISS	1429890
GO:0031430	Component	M band	IBA
GO:0031432	Function	Titin binding	ISS	1429890
GO:0032982	Component	Myosin filament	IEA
GO:0045214	Process	Sarcomere organization	IBA

Other IDs

• MIM: 160794
• HGNC: 7549
• e!Ensembl: ENSG00000196091

Protein

• UniProt ID: Q00872
• Protein name: Myosin-binding protein C, slow-type (Slow MyBP-C) (C-protein, skeletal muscle slow isoform)
• Protein function: Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. Slow skeletal protein that binds to both myosin and actin (PubMed:31025394, PubMed:31264822). In vitro, binds to native thin filaments and
• PDB: 1X44, 2DAV, 2YUV, 2YUW, 2YUX, 2YUZ, 2YXM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07679	I-set	59 → 159	Immunoglobulin I-set domain	Domain
  PF18362	THB	209 → 242	Tri-helix bundle domain	Domain
  PF07679	I-set	253 → 337	Immunoglobulin I-set domain	Domain
  PF07679	I-set	342 → 431	Immunoglobulin I-set domain	Domain
  PF07679	I-set	433 → 507	Immunoglobulin I-set domain	Domain
  PF07679	I-set	530 → 616	Immunoglobulin I-set domain	Domain
  PF00041	fn3	621 → 706	Fibronectin type III domain	Domain
  PF00041	fn3	719 → 822	Fibronectin type III domain	Domain
  PF07679	I-set	839 → 928	Immunoglobulin I-set domain	Domain
  PF00041	fn3	933 → 1016	Fibronectin type III domain	Domain
  PF07679	I-set	1047 → 1136	Immunoglobulin I-set domain	Domain

• Sequence:

  MPEPTKKEENEVPAPAPPPEEPSKEKEAGTTPAKDWTLVETPPGEEQAKQNANSQLSILF
  IEKPQGGTVKVGEDITFIAKVKAEDLLRKPTIKWFKGKWMDLASKAGKHLQLKETFERHS
  RVYTFEMQIIKAKDNFAGNYRCEVTYKDKFDSCSFDLEVHESTGTTPNIDIRSAFKRSGE
  GQEDAGELDFSGLLKRREVKQQEEEPQVDVWELLKNAKPSEYEKIAFQYGITDLRGMLKR
  LKRMRREEKKSAAFAKILDPAYQVDKGGRVRFVVELADPKLEVKWYKNGQEIRPSTKYIF
  EHKGCQRILFINNCQMTDDSEYYVTAGDEKCSTELFVREPPIMVTKQLEDTTAYCGERVE
  LECEVSEDDANVKWFKNGEEIIPGPKSRYRIRVEGKKHILIIEGATKADAAEYSVMTTGG
  QSSAKLSVDLKPLKILTPLTDQTVNLGKEICLKCEISENIPGKWTKNGLPVQESDRLKVV
  HKGRIHKLVIANALTEDEGDYVFAPDAYNVTLPAKVHVIDPPKIILDGLDADNTVTVIAG
  NKLRLEIPISGEPPPKAMWSRGDKAIMEGSGRIRTESYPDSSTLVIDIAERDDSGVYHIN
  LKNEAGEAHASIKVKVVDFPDPPVAPTVTEVGDDWCIMNWEPPAYDGGSPILGYFIERKK
  KQSSRWMRLNFDLCKETTFEPKKMIEGVAYEVRIFAVNAIGISKPSMPSRPFVPLAVTSP
  PTLLTVDSVTDTTVTMRWRPPDHIGAAGLDGYVLEYCFEGSTSAKQSDENGEAAYDLPAE
  DWIVANKDLIDKTKFTITGLPTDAKIFVRVKAVNAAGASEPKYYSQPILVKEIIEPPKIR
  IPRHLKQTYIRRVGEAVNLVIPFQGKPRPELTWKKDGAEIDKNQINIRNSETDTIIFIRK
  AERSHSGKYDLQVKVDKFVETASIDIQIIDRPGPPQIVKIEDVWGENVALTWTPPKDDGN
  AAITGYTIQKADKKSMEWFTVIEHYHRTSATITELVIGNEYYFRVFSENMCGLSEDATMT
  KESAVIARDGKIYKNPVYEDFDFSEAPMFTQPLVNTYAIAGYNATLNCSVRGNPKPKITW
  MKNKVAIVDDPRYRMFSNQGVCTLEIRKPSPYDGGTYCCKAVNDLGTVEIECKLEVKVIA
  Q

• Sequence length: 1141

Pathways

KEGG:

Cytoskeleton in muscle cells

Reactome:

Striated Muscle Contraction

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
Abnormality of the musculature	Likely pathogenic	rs2135990843	RCV001814512	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arthrogryposis, distal, type 1B	Likely pathogenic; Pathogenic	rs2547560732, rs387906657, rs387906658, rs1565943228	RCV002463392 RCV000022670 RCV000022671 RCV005626207	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal arthrogryposis	Likely pathogenic	rs1555242493	RCV000626822	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYBPC1-related disorder	Likely pathogenic; Pathogenic	rs1421405659, rs1565943228	RCV000626001 RCV000786058	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy, congenital, with tremor	Likely pathogenic; Pathogenic	rs564856283, rs1421405659, rs1565943228, rs1593846841	RCV000850132 RCV000850131 RCV000850130 RCV000850133	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARTHROGRYPOSIS, DISTAL, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYOPATHY 16	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGITOTALAR DYSMORPHISM	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL ARTHROGRYPOSIS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL ARTHROGRYPOSIS TYPE 1	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LETHAL CONGENITAL CONTRACTURE SYNDROME 3	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lethal congenital contracture syndrome 4	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	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	BEFREE	25679999, 26661508, 31264822		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	25679999, 31264822, 38438057	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
ARTHROGRYPOSIS, DISTAL, TYPE 1	Distal arthrogryposis	BEFREE	20045868, 23850728		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 1	Distal arthrogryposis	ORPHANET_DG	20045868		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 1B	Distal arthrogryposis	UNIPROT_DG	20045868, 26661508		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ARTHROGRYPOSIS, DISTAL, TYPE 1B	Distal arthrogryposis	GENOMICS_ENGLAND_DG	20045868, 22610851, 26661508		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ARTHROGRYPOSIS, DISTAL, TYPE 1B	Distal arthrogryposis	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ARTHROGRYPOSIS, DISTAL, TYPE 1B	Distal arthrogryposis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Neoplasms	Breast neoplasm	Pubtator	35132338	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	20045868	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	12628722		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	21061152	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	31264822	Associate	★☆☆☆☆ Found in Text Mining only
Digitotalar Dysmorphism	Digitotalar Dysmorphism	ORPHANET_DG	20045868		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of skeletal muscle	Disorder Of Skeletal Muscle	BEFREE	31025394		★☆☆☆☆ Found in Text Mining only
Distal arthrogryposis syndrome	Distal arthrogryposis	GENOMICS_ENGLAND_DG	22610851		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal arthrogryposis syndrome	Distal arthrogryposis	BEFREE	23657818, 25679999, 26287277		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal arthrogryposis syndrome	Distal arthrogryposis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal arthrogryposis syndrome	Distal arthrogryposis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal arthrogryposis type 1	Distal arthrogryposis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalitis	Encephalitis	Pubtator	21061152	Associate	★☆☆☆☆ Found in Text Mining only
Freeman-Sheldon syndrome	Freeman-Sheldon Syndrome	BEFREE	23850728		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	12628722		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	20045868		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	20045868		★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	BEFREE	18348259		★☆☆☆☆ Found in Text Mining only
Laryngeal web	Laryngeal web	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3	Lethal Congenital Contracture Syndrome	ORPHANET_DG	22610851		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LETHAL CONGENITAL CONTRACTURE SYNDROME 4	Lethal Congenital Contracture Syndrome	GENOMICS_ENGLAND_DG	20045868, 22610851, 26661508		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LETHAL CONGENITAL CONTRACTURE SYNDROME 4	Lethal Congenital Contracture Syndrome	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LETHAL CONGENITAL CONTRACTURE SYNDROME 4	Lethal Congenital Contracture Syndrome	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lethal congenital contracture syndrome type 3	Lethal Congenital Contracture Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	Non-Lethal Arthrogryposis Multiplex Congenita Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	23657818, 25679999, 31025394, 31264822		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	38438057	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25007964		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	31264822	Associate	★☆☆☆☆ Found in Text Mining only
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A	Night blindness	BEFREE	18348259		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32930132	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	36849756	Associate	★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	31025394, 31264822, 38438057	Associate	★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	HPO_DG			★☆☆☆☆ Found in Text Mining only