CAPN3 (calpain 3)

Gene

• Entrez ID: 825
• Gene name: Calpain 3
• Gene symbol: CAPN3
• Synonyms (NCBI Gene): CANP3, CANPL3, LGMD2, LGMD2A, LGMDD4, LGMDR1, nCL-1, p94
• Chromosome: 15
• Chromosome location: 15q15.1
• Summary: Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically bind

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28364528	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs79440238	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs80338801	G>A	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs80338802	G>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs80338803	AAA>-,AA,AAAA	Uncertain-significance, pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, intron variant, inframe deletion
rs80338804	->TC	Pathogenic	Coding sequence variant, frameshift variant
rs111806046	A>C,G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant
rs121434544	G>A,C,T	Uncertain-significance, pathogenic	Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs121434546	C>T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs121434547	C>T	Uncertain-significance, pathogenic-likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs121434548	G>A,C	Pathogenic	Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs138867099	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs139836397	T>G	Likely-pathogenic, uncertain-significance	Missense variant, genic upstream transcript variant, coding sequence variant
rs141656719	C>T	Pathogenic-likely-pathogenic, pathogenic	Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs142004418	C>G,T	Uncertain-significance, pathogenic	Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs143139259	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs146069933	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant
rs146309264	G>A	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs146403258	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, missense variant
rs146923842	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147764579	G>A	Likely-pathogenic, pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs147774793	C>A,G,T	Conflicting-interpretations-of-pathogenicity, pathogenic, benign-likely-benign	Synonymous variant, stop gained, coding sequence variant
rs147914333	C>T	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs148044781	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs149095128	C>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs149914792	G>A,C	Pathogenic-likely-pathogenic, uncertain-significance	Genic upstream transcript variant, coding sequence variant, missense variant
rs150226817	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs187279903	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs199806879	C>T	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs199884116	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, synonymous variant
rs199978708	C>G	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, intron variant, genic upstream transcript variant
rs200379491	A>G	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs200583904	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs200646556	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs201294691	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs201607149	G>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, intron variant
rs201736037	A>G	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, missense variant
rs201892814	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Upstream transcript variant, intron variant, genic upstream transcript variant
rs202019404	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, synonymous variant
rs267606703	G>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs368385372	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, synonymous variant
rs369552114	G>A	Likely-pathogenic, pathogenic	Splice acceptor variant
rs369784333	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs370231427	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, synonymous variant
rs370313391	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, genic upstream transcript variant, synonymous variant
rs371577901	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs372401631	G>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs372438001	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, missense variant
rs372450879	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs374665929	A>C,G	Pathogenic	Intron variant, genic upstream transcript variant
rs376107921	G>A,C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs398123143	G>A	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, missense variant
rs398123146	->T	Likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs398123147	->GTCA	Pathogenic	Coding sequence variant, frameshift variant
rs398123150	->GTTGATTGCA	Pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, frameshift variant
rs528417986	C>A,T	Likely-pathogenic, pathogenic	Genic upstream transcript variant, missense variant, intron variant, synonymous variant, coding sequence variant
rs530529988	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, genic upstream transcript variant, missense variant, synonymous variant, coding sequence variant
rs557164942	C>G,T	Likely-pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic upstream transcript variant, upstream transcript variant
rs587780289	CA>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs587780290	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727503839	G>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, upstream transcript variant
rs746075428	GGA>-	Likely-pathogenic	Inframe deletion, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs747557404	G>C	Pathogenic	Genic upstream transcript variant, upstream transcript variant, splice acceptor variant
rs749099493	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs749863676	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, coding sequence variant, missense variant
rs750083132	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs750443041	G>T	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs752848213	C>G,T	Pathogenic, likely-benign	Stop gained, coding sequence variant, upstream transcript variant, genic upstream transcript variant, synonymous variant
rs753360208	->T	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs753686702	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant
rs754761503	G>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant
rs758058910	C>A,T	Pathogenic	Missense variant, synonymous variant, genic upstream transcript variant, coding sequence variant
rs760196248	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs760205277	G>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs760626912	T>G	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs760919949	->GT	Likely-pathogenic	Splice donor variant, coding sequence variant
rs761211705	G>A,C	Pathogenic	Intron variant, genic upstream transcript variant
rs761257703	GGG>-,GGGG	Pathogenic	Intron variant, frameshift variant, inframe deletion, genic upstream transcript variant, coding sequence variant
rs761757153	C>G	Likely-pathogenic	Intron variant
rs761897806	->TC	Pathogenic	Frameshift variant, coding sequence variant
rs761935462	T>G	Likely-pathogenic	Splice donor variant
rs762471207	A>-	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs763649825	CTCT>-,CT	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs764086484	GACA>-	Pathogenic	Frameshift variant, coding sequence variant
rs764459544	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs766156798	GACA>-	Pathogenic, likely-pathogenic	Intron variant, splice acceptor variant, genic upstream transcript variant, coding sequence variant
rs766334893	G>T	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs766917640	G>A	Likely-pathogenic	Splice donor variant
rs767739787	G>A	Pathogenic-likely-pathogenic	Missense variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs768090444	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs768374736	G>A,C,T	Pathogenic	Splice donor variant
rs769688710	A>G	Likely-pathogenic	Splice acceptor variant
rs770894443	G>A,T	Uncertain-significance, pathogenic-likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs773001194	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs773827877	G>A,C	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs774048743	G>A	Pathogenic, pathogenic-likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs774273767	C>G,T	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs775130589	->A	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs775217052	T>A	Pathogenic	Splice donor variant
rs775453643	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, missense variant
rs776043976	C>G,T	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs776059672	T>-,TT	Pathogenic, likely-pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant, stop gained
rs777323132	C>T	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs777483913	C>T	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs777636094	G>A,T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained, missense variant
rs778768583	G>C	Pathogenic	Coding sequence variant, missense variant
rs780680647	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs780810538	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs781013226	G>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs786205491	G>A	Likely-pathogenic	Splice acceptor variant
rs794726871	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs794727318	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs794727697	GAA>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, inframe deletion
rs863224956	G>A,T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs863224957	C>T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs863224958	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs863224959	C>G,T	Pathogenic, uncertain-significance	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs863224960	G>A,T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, missense variant
rs863224961	G>C,T	Pathogenic	Splice donor variant
rs863224962	A>G	Pathogenic-likely-pathogenic	Splice acceptor variant
rs863224965	TCCTACGAAGCTCTGAAAGGT>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, inframe deletion
rs863224966	GATA>CTT	Pathogenic	Intron variant, frameshift variant, genic upstream transcript variant, coding sequence variant
rs867628179	C>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs868791726	C>A,T	Likely-pathogenic	Synonymous variant, coding sequence variant, missense variant
rs869312852	CATTGA>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, inframe deletion
rs886039597	G>C	Uncertain-significance, likely-pathogenic	Intron variant, genic upstream transcript variant
rs886041335	A>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs886042108	G>C,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs886042418	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs886042439	C>A	Pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs886042478	C>T	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs886042557	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886042573	TG>-	Pathogenic, likely-pathogenic	Frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs886042895	A>G	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs886042903	G>C	Likely-pathogenic	Intron variant, upstream transcript variant, genic upstream transcript variant
rs886042927	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs886042964	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs886043222	->T	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs886043333	ACG>-	Uncertain-significance, likely-pathogenic	Coding sequence variant, inframe deletion
rs886043432	G>A	Likely-pathogenic	Synonymous variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs886043705	C>-	Pathogenic	Frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs886043752	G>A	Pathogenic, likely-pathogenic	Intron variant, splice acceptor variant
rs886044004	->G	Pathogenic	Frameshift variant, coding sequence variant, initiator codon variant
rs886044052	G>A,C	Pathogenic, uncertain-significance	Splice acceptor variant
rs886044417	->A	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs886044475	G>A	Pathogenic	Splice donor variant
rs886044527	G>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs988027905	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant
rs1057524468	T>A,C	Pathogenic, likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1064793620	AT>-	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1085307534	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1085307995	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1274808359	C>T	Pathogenic-likely-pathogenic, pathogenic	Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs1275289254	G>A,T	Pathogenic	Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs1293496023	TG>-	Pathogenic-likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1334369407	C>-	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1345121557	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1366387924	C>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs1447774727	->T	Likely-pathogenic	Stop gained, coding sequence variant
rs1459288402	G>A	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1555417257	T>C	Likely-pathogenic	Missense variant, initiator codon variant, genic upstream transcript variant
rs1555417271	C>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1555417321	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1555420634	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs1555420639	->G	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1555420642	GATG>AT	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1555420647	CATGTACAAGA>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1555420765	T>C	Likely-pathogenic	Intron variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1555421263	G>A	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1555421271	T>G	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs1555421280	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1555421293	G>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1555421523	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1555421524	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1555421842	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1555421847	G>T	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1555421854	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1555421856	->T	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1555421871	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1555422136	T>C	Uncertain-significance, likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs1555422145	T>C	Pathogenic	Splice donor variant, genic upstream transcript variant, upstream transcript variant
rs1555422293	C>-	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs1555422298	->CACC	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs1555422832	A>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1555422839	G>T	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs1555422847	A>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1555422851	GGTGTCTGGGCATGTGGCA>-	Likely-pathogenic	Splice donor variant, coding sequence variant, intron variant
rs1555422856	T>C	Likely-pathogenic	Splice donor variant, intron variant
rs1555422954	TG>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1555423015	T>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555423021	->AAACA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555423027	G>-	Likely-pathogenic	Splice donor variant
rs1555423046	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555423060	T>C	Pathogenic	Splice donor variant
rs1555423146	T>C	Likely-pathogenic	Splice donor variant
rs1555423217	AG>TCATCT	Pathogenic	Coding sequence variant, frameshift variant
rs1555423219	G>TCT	Pathogenic	Coding sequence variant, frameshift variant
rs1555423222	G>T	Likely-pathogenic	Splice donor variant
rs1566983844	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1566984441	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1595794433	->T	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1595826673	A>G	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1595828589	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1595828703	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1595837172	A>-	Likely-pathogenic	Coding sequence variant, upstream transcript variant, frameshift variant, genic upstream transcript variant
rs1595838545	C>-	Pathogenic	Coding sequence variant, upstream transcript variant, frameshift variant, genic upstream transcript variant
rs1595844413	C>T	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1595845459	G>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1595846922	AGAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1595847257	C>T	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT441014	hsa-miR-544a	HITS-CLIP	24374217
MIRT441014	hsa-miR-544a	HITS-CLIP	24374217

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IDA	9642272
GO:0004198	Function	Calcium-dependent cysteine-type endopeptidase activity	IBA
GO:0004198	Function	Calcium-dependent cysteine-type endopeptidase activity	IEA
GO:0004198	Function	Calcium-dependent cysteine-type endopeptidase activity	ISS
GO:0004198	Function	Calcium-dependent cysteine-type endopeptidase activity	TAS	9642272
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	ISS
GO:0005515	Function	Protein binding	IPI	20860623, 23357851, 23414517, 23707407, 25416956, 26871637, 27657329, 31515488, 32296183, 32814053
GO:0005634	Component	Nucleus	IDA	19386580
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IDA	27657329
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	19386580, 19556129
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IDA	9642272, 18310072, 19386580, 20694146
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006915	Process	Apoptotic process	TAS	19386580
GO:0007517	Process	Muscle organ development	TAS	7720071, 9642272
GO:0008233	Function	Peptidase activity	IDA	9642272, 23707407
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	TAS	2555341
GO:0008307	Function	Structural constituent of muscle	IEA
GO:0008307	Function	Structural constituent of muscle	ISS
GO:0012501	Process	Programmed cell death	IEA
GO:0014718	Process	Positive regulation of satellite cell activation involved in skeletal muscle regeneration	IEA
GO:0014718	Process	Positive regulation of satellite cell activation involved in skeletal muscle regeneration	ISS
GO:0014850	Process	Response to muscle activity	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0030016	Component	Myofibril	ISS
GO:0030018	Component	Z disc	ISS
GO:0030163	Process	Protein catabolic process	IDA	27657329
GO:0030163	Process	Protein catabolic process	IMP	23357851
GO:0030239	Process	Myofibril assembly	IEA
GO:0030239	Process	Myofibril assembly	ISS
GO:0030239	Process	Myofibril assembly	TAS	9642272
GO:0030315	Component	T-tubule	ISS
GO:0031402	Function	Sodium ion binding	IEA
GO:0031402	Function	Sodium ion binding	ISS
GO:0031432	Function	Titin binding	IPI	9642272, 18310072
GO:0031648	Process	Protein destabilization	IMP	23357851
GO:0032991	Component	Protein-containing complex	IEA
GO:0032991	Component	Protein-containing complex	ISS
GO:0033234	Process	Negative regulation of protein sumoylation	IDA	20694146
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0043066	Process	Negative regulation of apoptotic process	IBA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	18073330
GO:0043122	Process	Regulation of canonical NF-kappaB signal transduction	IEA
GO:0043122	Process	Regulation of canonical NF-kappaB signal transduction	IMP	18073330
GO:0045214	Process	Sarcomere organization	IEA
GO:0045214	Process	Sarcomere organization	ISS
GO:0045661	Process	Regulation of myoblast differentiation	IEA
GO:0045862	Process	Positive regulation of proteolysis	IEA
GO:0045862	Process	Positive regulation of proteolysis	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	18073330
GO:0046716	Process	Muscle cell cellular homeostasis	TAS	19386580
GO:0046872	Function	Metal ion binding	IEA
GO:0051281	Process	Positive regulation of release of sequestered calcium ion into cytosol	IEA
GO:0051281	Process	Positive regulation of release of sequestered calcium ion into cytosol	ISS
GO:0051592	Process	Response to calcium ion	ISS
GO:0055103	Function	Ligase regulator activity	IDA	20694146
GO:0060090	Function	Molecular adaptor activity	IEA
GO:0060090	Function	Molecular adaptor activity	ISS
GO:0061061	Process	Muscle structure development	IEA
GO:0061061	Process	Muscle structure development	ISS
GO:0065003	Process	Protein-containing complex assembly	IEA
GO:0065003	Process	Protein-containing complex assembly	ISS
GO:0070315	Process	G1 to G0 transition involved in cell differentiation	IEA
GO:0071277	Process	Cellular response to calcium ion	IEA
GO:0071277	Process	Cellular response to calcium ion	ISS
GO:0071472	Process	Cellular response to salt stress	IEA
GO:0071472	Process	Cellular response to salt stress	ISS
GO:0072657	Process	Protein localization to membrane	IEA
GO:0072657	Process	Protein localization to membrane	ISS
GO:0097264	Process	Self proteolysis	IDA	9642272
GO:1990092	Process	Calcium-dependent self proteolysis	IDA	12482600

Other IDs

• MIM: 114240
• HGNC: 1480
• e!Ensembl: ENSG00000092529

Protein

• UniProt ID: P20807
• Protein name: Calpain-3 (EC 3.4.22.54) (Calcium-activated neutral proteinase 3) (CANP 3) (Calpain L3) (Calpain p94) (Muscle-specific calcium-activated neutral protease 3) (New calpain 1) (nCL-1)
• Protein function: Calcium-regulated non-lysosomal thiol-protease. Proteolytically cleaves CTBP1 at 'His-409'. Mediates, with UTP25, the proteasome-independent degradation of p53/TP53 (PubMed:23357851, PubMed:27657329). {ECO:0000269|PubMed:23357851, ECO:0000269|Pu
• PDB: 4OKH, 6BDT, 6BGP, 6BJD, 6BKJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00648	Peptidase_C2	75 → 415	Calpain family cysteine protease	Family
  PF01067	Calpain_III	436 → 574	Calpain large subunit, domain III	Domain
  PF16648	Calpain_u2	583 → 653		Disordered

• Tissue specificity: TISSUE SPECIFICITY: Isoform I is skeletal muscle specific.
• Sequence:

  MPTVISASVAPRTAAEPRSPGPVPHPAQSKATEAGGGNPSGIYSAIISRNFPIIGVKEKT
  FEQLHKKCLEKKVLYVDPEFPPDETSLFYSQKFPIQFVWKRPPEICENPRFIIDGANRTD
  ICQGELGDCWFLAAIACLTLNQHLLFRVIPHDQSFIENYAGIFHFQFWRYGEWVDVVIDD
  CLPTYNNQLVFTKSNHRNEFWSALLEKAYAKLHGSYEALKGGNTTEAMEDFTGGVAEFFE
  IRDAPSDMYKIMKKAIERGSLMGCSIDDGTNMTYGTSPSGLNMGELIARMVRNMDNSLLQ
  DSDLDPRGSDERPTRTIIPVQYETRMACGLVRGHAYSVTGLDEVPFKGEKVKLVRLRNPW
  GQVEWNGSWSDRWKDWSFVDKDEKARLQHQVTEDGEFWMSYEDFIYHFTKLEICNLTADA
  LQSDKLQTWTVSVNEGRWVRGCSAGGCRNFPDTFWTNPQYRLKLLEEDDDPDDSEVICSF
  LVALMQKNRRKDRKLGASLFTIGFAIYEVPKEMHGNKQHLQKDFFLYNASKARSKTYINM
  REVSQRFRLPPSEYVIVPSTYEPHQEGEFILRVFSEKRNLSEEVENTISVDRPVKKKKTK
  PIIFVSDRANSNKELGVDQESEEGKGKTSPDKQKQSPQPQPGSSDQESEEQQQFRNIFKQ
  IAGDDMEICADELKKVLNTVVNKHKDLKTHGFTLESCRSMIALMDTDGSGKLNLQEFHHL
  WNKIKAWQKIFKHYDTDQSGTINSYEMRNAVNDAGFHLNNQLYDIITMRYADKHMNIDFD
  SFICCFVRLEGMFRAFHAFDKDGDGIIKLNVLEWLQLTMYA

• Sequence length: 821

Pathways

KEGG:

Cytoskeleton in muscle cells

Reactome:

Degradation of the extracellular matrix

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; Pathogenic	rs1432632972, rs2141167797, rs2141176978, rs863224956, rs2141199638, rs2141203052, rs587780290, rs376107921, rs863224958, rs863224959, rs863224961, rs528417986, rs776059672, rs80338803, rs1555421856, rs767739787	RCV001814502 RCV001814523 RCV001814378 RCV001814569 RCV001814513 RCV001814409 RCV001814062 RCV001814105 RCV001814106 RCV001814107 RCV001814109 RCV001814143 RCV001814147 RCV001814001 RCV001836845 RCV001814213	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Absent Achilles reflex	Pathogenic; Likely pathogenic	rs80338800, rs1555420508	RCV000626576 RCV000626579	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive disease	Likely pathogenic; Pathogenic	rs794727318	RCV005623071	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive limb-girdle muscular dystrophy	Likely pathogenic; Pathogenic	rs2141102673, rs863224956, rs2141193533, rs2141176797, rs777829958, rs2141164715, rs727503839, rs141656719, rs727503837, rs2548274050, rs794726871, rs762471207, rs794727697, rs376107921, rs774048743, rs863224958, rs863224964, rs863224965, rs863224966, rs374665929, rs863224959, rs886039597, rs1555421871, rs200646556, rs149914792, rs868791726, rs369552114, rs886042439, rs886042440, rs528417986, rs764459544, rs2548255674, rs139836397, rs886042557, rs768090444, rs773827877, rs886042895, rs779701414, rs770894443, rs886043432, rs747557404, rs775130589, rs199806879, rs147764579, rs886044527, rs777483913, rs1237444643, rs80338802, rs121434544, rs121434545, rs1555423217, rs80338800, rs121434548, rs767106920, rs200379491, rs369784333, rs901764287, rs766334893, rs752046508, rs142004418, rs1274808359, rs1555420634, rs758058910, rs1555422832, rs750083132, rs1555420765, rs746075428, rs1262587749, rs1555421271, rs768374736, rs766917640, rs1566983844, rs750443041, rs1555421532, rs2054085839, rs2053804014, rs201736037, rs398123143, rs201892814, rs398123146, rs149095128	RCV004998867 RCV003323900 RCV006449151 RCV005237988 RCV003487780 RCV002271907 RCV003114302 RCV003987377 RCV005252772 RCV005419541 RCV003114322 RCV005600801 RCV004998384 RCV004998417 RCV003235123 RCV003330572 RCV005864461 RCV004998418 RCV005600810 RCV003225933 RCV003387802 RCV006445556 RCV005600884 RCV006445638 RCV002509343 RCV004689699 RCV003323488 RCV005600889 RCV006445642 RCV004999206 RCV002271482 RCV003226273 RCV003236296 RCV004999209 RCV005600890 RCV004999212 RCV002282104 RCV004999218 RCV004999223 RCV005600892 RCV004999233 RCV004701388 RCV004999242 RCV003330627 RCV002509353 RCV005601038 RCV004587503 RCV003988454 RCV005406749 RCV003323362 RCV004998102 RCV003114199 RCV004998103 RCV002222356 RCV002282221 RCV005600975 RCV002509457 RCV005000364 RCV005000366 RCV005601039 RCV002298702 RCV003235305 RCV005000372 RCV004800511 RCV005000481 RCV003330890 RCV001731876 RCV003235338 RCV004586863 RCV006265196 RCV004526742 RCV004586865 RCV006448590 RCV004997267 RCV003235444 RCV005864552 RCV006446077 RCV002271401 RCV005237519 RCV003225929 RCV004800277 RCV001804832	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely pathogenic; Pathogenic	rs1164215001, rs1375420170, rs1339644598, rs1555423222, rs1566965857, rs2141102673, rs1476836379, rs2141160443, rs2141160513, rs2141160577, rs2141202919, rs2141203435, rs2141210355, rs2141219910, rs2141219970, rs2141221307, rs2141221357, rs2054150380, rs148851444, rs2141199370, rs2053335268, rs2141193533, rs777829958, rs1566973583, rs2053446296, rs2141225644, rs752397587, rs587780289, rs587780290, rs2141199686, rs2053483911, rs2141102601, rs2141164830, rs965032792, rs2141170197, rs2141224217, rs2141102811, rs2141199970, rs2141176996, rs2141221533, rs2141160425, rs2141225604, rs1432632972, rs748194118, rs1566965796, rs754930571, rs761430243, rs768374736, rs2141177054, rs138846390, rs763649825, rs2141160881, rs2141170517, rs2141216768, rs2141199752, rs2548279211, rs727503839, rs141656719, rs727503837, rs2548257965, rs2548291183, rs752155690, rs763449646, rs2548293398, rs2548260565, rs2548294312, rs768100265, rs2548274050, rs2141194090, rs2548270234, rs2548260237, rs794726871, rs557164942, rs1301292668, rs762471207, rs794727318, rs778768583, rs2548252750, rs2548284438, rs794727697, rs1278045166, rs2053871695, rs869312852, rs2548258180, rs2548291784, rs2548290188, rs1445724752, rs2548270156, rs2548224423, rs797045427, rs2548260668, rs2548255691, rs2548255775, rs1801505, rs376107921, rs774048743, rs863224958, rs863224963, rs863224964, rs863224965, rs863224966, rs374665929, rs863224956, rs863224957, rs863224959, rs863224960, rs863224961, rs863224962, rs768437317, rs2548267387, rs2548252825, rs2548255667, rs2548255670, rs2548292755, rs2548260454, rs2548261988, rs2548255981, rs2548290249, rs2548279192, rs878854364, rs2548252820, rs886039597, rs761211705, rs776043976, rs886041335, rs1555421871, rs886042108, rs749099493, rs200646556, rs80338804, rs761897806, rs149914792, rs868791726, rs369552114, rs886042418, rs886042439, rs886042440, rs2548270143, rs528417986, rs764459544, rs886042478, rs2548255674, rs139836397, rs886042557, rs886042573, rs768090444, rs777323132, rs753360208, rs773827877, rs886042895, rs776059672, rs886042964, rs779701414, rs770894443, rs777483913, rs760205277, rs746935735, rs886043432, rs781013226, rs886043752, rs773001194, rs747557404, rs886044004, rs775130589, rs199806879, rs867531606, rs147764579, rs2548287991, rs752848213, rs886044475, rs886044483, rs886044527, rs761257703, rs2548260430, rs2548288015, rs2548294490, rs1051798261, rs2053877613, rs2548294503, rs2548262153, rs2548267382, rs2548260516, rs2548225046, rs2548277487, rs1275289254, rs2548255741, rs2548276716, rs2548279629, rs80338803, rs2548273884, rs2548279560, rs2548293381, rs2548262056, rs2548224591, rs2054129122, rs2548262062, rs2548260118, rs2548273864, rs2548224771, rs771989126, rs2548276741, rs2548262198, rs2548252687, rs2548270128, rs2548265616, rs939374091, rs121434547, rs2548293276, rs1391365292, rs1345121557, rs773631149, rs80338802, rs121434544, rs121434545, rs121434546, rs1555423217, rs267606703, rs80338800, rs121434548, rs80338801, rs1057524468, rs1064793620, rs1085307995, rs1085307534, rs1555420475, rs1555420075, rs767106920, rs200379491, rs369784333, rs901764287, rs766156798, rs766334893, rs752046508, rs1555421523, rs1555421524, rs1555420462, rs142004418, rs147774793, rs1274808359, rs1555420634, rs1366387924, rs745967703, rs1555420642, rs758058910, rs1555420468, rs1555420507, rs1555421263, rs1555422293, rs1555422298, rs1555422832, rs1555423021, rs1555417271, rs1555420302, rs750083132, rs1555420765, rs1457098622, rs746075428, rs1555422954, rs760919949, rs764086484, rs1262587749, rs1555420647, rs1555421271, rs1555421847, rs1334369407, rs1555423015, rs1555423046, rs1555417257, rs1555417321, rs1555420083, rs1459288402, rs1555421280, rs1555421293, rs1555421842, rs1555421854, rs1293496023, rs767739787, rs1555422839, rs1555422847, rs1555422856, rs777636094, rs1555423027, rs766917640, rs1555423146, rs1447774727, rs1566965806, rs1162942997, rs1566975163, rs1566983844, rs1566984441, rs750443041, rs761935462, rs1595821204, rs781723572, rs1595838545, rs1595845459, rs1595846922, rs1595826673, rs886044052, rs1595837172, rs1595794433, rs1595828703, rs1555421532, rs1595844413, rs1595847257, rs2052593499, rs2053401167, rs2053442769, rs1566975090, rs763719290, rs2053485642, rs2053509916, rs1409503203, rs774048414, rs2054186817, rs1457010016, rs2053876698, rs2054085839, rs2053974373, rs371784007, rs2053910936, rs2053889963, rs2053804014, rs2053335168, rs757448865, rs2053484604, rs2053589887, rs2054157050, rs2054179951, rs2054206966, rs2054185246, rs201736037, rs398123143, rs201892814, rs398123146, rs149095128, rs398123149, rs398123150, rs2053478068, rs767477904	RCV001362667 RCV001379391 RCV001378423 RCV001378804 RCV001380972 RCV001385208 RCV001389563 RCV001380498 RCV001390977 RCV001380448 RCV001383787 RCV001387451 RCV001380793 RCV001385225 RCV001381277 RCV001384539 RCV001390843 RCV001383612 RCV001554269 RCV001730018 RCV002512158 RCV001779555 RCV003517046 RCV002034610 RCV002250772 RCV002544279 RCV001805741 RCV001808032 RCV000116541 RCV000116542 RCV001992920 RCV002048143 RCV001877023 RCV001984367 RCV001941728 RCV001964090 RCV001936391 RCV001953741 RCV002000107 RCV001890262 RCV002007498 RCV001994476 RCV001942236 RCV001989087 RCV001893662 RCV002002571 RCV002037538 RCV001913001 RCV001904132 RCV001970493 RCV001888198 RCV001956510 RCV001949581 RCV001956513 RCV002039857 RCV005008509 RCV002290081 RCV000174442 RCV000173975 RCV000152920 RCV002306568 RCV002309699 RCV002309801 RCV002307037 RCV002307059 RCV002307064 RCV002307272 RCV003064248 RCV003041224 RCV003058459 RCV003061609 RCV003085020 RCV000173055 RCV000201107 RCV002628212 RCV000175119 RCV000798205 RCV000176251 RCV002620891 RCV002629499 RCV000178708 RCV002627252 RCV002690317 RCV005409630 RCV002835059 RCV002834476 RCV002843873 RCV002851586 RCV002880779 RCV002881476 RCV000192648 RCV002852310 RCV002853032 RCV002876265 RCV002976490 RCV001052904 RCV000201096 RCV000201177 RCV000201045 RCV001004958 RCV000201080 RCV000201156 RCV000201036 RCV000201038 RCV000201031 RCV000201199 RCV000201202 RCV000201136 RCV000201069 RCV000201091 RCV003016212 RCV003030783 RCV003005848 RCV003019323 RCV003031151 RCV003042035 RCV003041567 RCV003014953 RCV003058091 RCV003050336 RCV003040927 RCV000762948 RCV003153101 RCV000822784 RCV000400325 RCV000274198 RCV000593825 RCV000359171 RCV000391266 RCV000389096 RCV000340100 RCV001855085 RCV000989294 RCV000820741 RCV000295812 RCV000382987 RCV000345653 RCV001729504 RCV000819248 RCV003326700 RCV000340129 RCV000301610 RCV000311426 RCV005409923 RCV000813198 RCV000311834 RCV000283334 RCV000279441 RCV000269452 RCV005008242 RCV000405059 RCV005008245 RCV000365092 RCV003631105 RCV000667247 RCV000644995 RCV000345099 RCV002518971 RCV000310267 RCV001249768 RCV000274925 RCV000310673 RCV001068856 RCV001072038 RCV002518054 RCV000399324 RCV000354372 RCV003314261 RCV000350336 RCV005409928 RCV000812975 RCV000375361 RCV003517180 RCV000594511 RCV001859722 RCV003337877 RCV003337952 RCV003337983 RCV003517504 RCV003631324 RCV003517506 RCV005608976 RCV005409934 RCV003517997 RCV003518000 RCV003518035 RCV003518074 RCV003518615 RCV003518798 RCV003518799 RCV003518800 RCV003518801 RCV003518802 RCV003516981 RCV003517689 RCV003517816 RCV003517846 RCV003517119 RCV003517594 RCV003631495 RCV003631642 RCV003631948 RCV003632040 RCV003632042 RCV003632063 RCV003632053 RCV003632190 RCV003632207 RCV003632584 RCV003632777 RCV003632843 RCV003838279 RCV003842970 RCV003858778 RCV003865114 RCV000020096 RCV000019180 RCV000019181 RCV000019182 RCV000019183 RCV000019184 RCV000019186 RCV000019187 RCV000019188 RCV000019189 RCV000020097 RCV005006442 RCV003631123 RCV000821006 RCV000644994 RCV004568603 RCV000509589 RCV001243276 RCV000537811 RCV000542626 RCV000673077 RCV002532362 RCV000592803 RCV000591954 RCV003517231 RCV000757882 RCV001388137 RCV000593032 RCV000595213 RCV001247085 RCV000592929 RCV000593803 RCV000796843 RCV000644987 RCV000644977 RCV000644980 RCV000644986 RCV000660877 RCV000660878 RCV000673164 RCV000665369 RCV000672914 RCV000672816 RCV000674431 RCV000671304 RCV000670620 RCV000670893 RCV000666074 RCV000672580 RCV000670735 RCV000671506 RCV000668446 RCV000669378 RCV000669957 RCV000672468 RCV000666413 RCV000668298 RCV000670032 RCV000671049 RCV000669275 RCV000673597 RCV000673275 RCV000669159 RCV000666547 RCV000672316 RCV000669271 RCV000674040 RCV000667099 RCV000672743 RCV000674845 RCV000665053 RCV000668182 RCV000665357 RCV000674148 RCV000671963 RCV000668771 RCV000673908 RCV000668383 RCV000674022 RCV000673334 RCV000667932 RCV000672598 RCV000673760 RCV000671447 RCV000674774 RCV000675004 RCV000671146 RCV000689673 RCV000692092 RCV000693259 RCV002535067 RCV001213723 RCV001855673 RCV000754720 RCV001051737 RCV000779157 RCV000809466 RCV000819470 RCV000812244 RCV000820862 RCV000816250 RCV000821687 RCV000815849 RCV002550676 RCV001004405 RCV001004982 RCV001004974 RCV001004976 RCV001004959 RCV001068127 RCV001039424 RCV001046209 RCV001065953 RCV001045585 RCV001054867 RCV001048587 RCV001070692 RCV001053864 RCV001071498 RCV001038288 RCV001204483 RCV001203806 RCV001217778 RCV001239389 RCV001246101 RCV001232871 RCV001249767 RCV001263854 RCV001263855 RCV001263856 RCV001263857 RCV001263858 RCV001264018 RCV001264019 RCV001281669 RCV000280277 RCV000338313 RCV000559180 RCV000173057 RCV000201145 RCV000178032 RCV001381537 RCV001290339 RCV001307356	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Calf muscle hypertrophy	Pathogenic	rs80338800	RCV000415100	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CAPN3-related disorder	Pathogenic; Likely pathogenic	rs727503839, rs141656719, rs727503837, rs1555421871, rs139836397, rs775130589, rs147764579, rs80338800, rs200379491, rs142004418, rs1595826673, rs201736037	RCV004532716 RCV001813761 RCV004732712 RCV001849361 RCV004732819 RCV004535421 RCV004535436 RCV001849271 RCV004538015 RCV004732952 RCV004540120 RCV004732653	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiac arrhythmia	Pathogenic	rs1555421871, rs80338800	RCV000415128 RCV000415344	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital muscular dystrophy	Pathogenic	rs80338800	RCV000415373	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Elbow flexion contracture	Pathogenic	rs1555421871, rs80338800	RCV000415128 RCV000415344	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EMG: myopathic abnormalities	Pathogenic	rs80338800	RCV000414969	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Limb-girdle muscle weakness	Pathogenic	rs80338800	RCV000626575	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Limb-girdle muscular dystrophy	Likely pathogenic; Pathogenic	rs1432632972, rs149914792	RCV002512157 RCV001775111	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Limb-girdle muscular dystrophy, recessive	Pathogenic	rs80338800	RCV000348995	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lower-limb joint contracture	Pathogenic	rs1555421871, rs80338800	RCV000415128 RCV000415344	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant lymphoma, large B-cell, diffuse	Pathogenic	rs886043752	RCV005895788	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Pathogenic	rs886043752	RCV005895787	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Pathogenic	rs863224962	RCV005893609	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscle weakness	Pathogenic; Likely pathogenic	rs1555421871, rs80338800, rs1555420508	RCV000415128 RCV000415344 RCV000626579	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy	Pathogenic	rs1555421871, rs80338800	RCV000415128 RCV000415344	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy, limb-girdle, autosomal dominant 4	Likely pathogenic; Pathogenic	rs1375420170, rs1566965857, rs2141160577, rs2141210355, rs863224956, rs1164215001, rs2141176797, rs777829958, rs2053446296, rs587780289, rs587780290, rs2141224217, rs2141199752, rs727503839, rs141656719, rs727503837, rs768100265, rs2141194090, rs794726871, rs557164942, rs762471207, rs794727318, rs778768583, rs2548284438, rs794727697, rs797045427, rs376107921, rs774048743, rs863224958, rs863224963, rs863224964, rs863224965, rs863224966, rs374665929, rs863224957, rs863224959, rs863224960, rs863224961, rs863224962, rs768437317, rs878854364, rs761211705, rs776043976, rs886041335, rs1555421871, rs886042108, rs749099493, rs200646556, rs149914792, rs868791726, rs369552114, rs886042439, rs528417986, rs764459544, rs886042478, rs139836397, rs886042557, rs768090444, rs777323132, rs753360208, rs773827877, rs886042895, rs770894443, rs777483913, rs886043432, rs781013226, rs886043752, rs773001194, rs747557404, rs775130589, rs199806879, rs147764579, rs886044483, rs761257703, rs2548294450, rs2548288015, rs2548255851, rs1342955565, rs886042672, rs1051798261, rs2053877613, rs2548255993, rs2548294503, rs2548262153, rs80338802, rs121434544, rs121434545, rs121434547, rs1555423217, rs80338803, rs80338800, rs121434548, rs2548270229, rs2548294425, rs757469887, rs2548290164, rs2548260114, rs2548276360, rs2548297262, rs2548225010, rs2548225062, rs1555423146, rs1555421263, rs2052598246, rs1057524468, rs1085307995, rs767106920, rs200379491, rs369784333, rs766334893, rs1555423060, rs1555421523, rs1555420462, rs142004418, rs147774793, rs1274808359, rs1366387924, rs1275289254, rs1555420642, rs1555420507, rs1345121557, rs1555422293, rs1555422832, rs1555417271, rs750083132, rs1555420765, rs746075428, rs760919949, rs764086484, rs1262587749, rs1555421271, rs1334369407, rs768374736, rs1555423046, rs1459288402, rs1555421854, rs1293496023, rs767739787, rs766917640, rs1447774727, rs1555423222, rs1162942997, rs1566983844, rs750443041, rs761935462, rs781723572, rs1595826673, rs1595844413, rs2052593499, rs1409503203, rs774048414, rs2054186817, rs2054085839, rs2053974373, rs371784007, rs2053910936, rs757448865, rs201736037, rs398123143, rs201892814, rs398123146, rs149095128, rs398123149	RCV005005907 RCV003462970 RCV005005908 RCV003462968 RCV004571056 RCV004571079 RCV003464143 RCV005006051 RCV003475093 RCV004567030 RCV003474720 RCV003475182 RCV005008509 RCV003474805 RCV000762950 RCV003474804 RCV004572733 RCV003459731 RCV003462272 RCV003462275 RCV003474927 RCV003462280 RCV003474930 RCV004572804 RCV003474934 RCV003462299 RCV000762949 RCV000762947 RCV003474971 RCV003462348 RCV003462349 RCV000681607 RCV003462351 RCV003474967 RCV003474969 RCV002492925 RCV002500625 RCV003474973 RCV003474974 RCV003462347 RCV003459697 RCV000762948 RCV002479996 RCV003463735 RCV003463736 RCV003475888 RCV003475889 RCV003463741 RCV002502096 RCV002480004 RCV003475893 RCV000763350 RCV004567826 RCV005008236 RCV003463744 RCV003475897 RCV003475898 RCV003475900 RCV003475902 RCV003475903 RCV005008242 RCV003475905 RCV003463755 RCV003475907 RCV003463759 RCV001196491 RCV004567832 RCV003475915 RCV003463771 RCV003463772 RCV004567835 RCV000763349 RCV002504018 RCV005008262 RCV003463779 RCV003337915 RCV003459844 RCV003474473 RCV003474474 RCV003474475 RCV003460313 RCV003460315 RCV003460318 RCV003460324 RCV003460328 RCV003460331 RCV003473106 RCV001198825 RCV001813749 RCV003473107 RCV002490390 RCV005007875 RCV001197255 RCV003473110 RCV004575474 RCV004575476 RCV004575477 RCV004575478 RCV004575479 RCV004575480 RCV004575481 RCV004575483 RCV004575484 RCV004575485 RCV004575486 RCV004575488 RCV004575489 RCV004575492 RCV003476018 RCV003464039 RCV002491061 RCV002476173 RCV003471951 RCV003459462 RCV003459463 RCV005010569 RCV005010570 RCV000762951 RCV003459470 RCV003471960 RCV004568317 RCV003459540 RCV003459541 RCV003459570 RCV002499184 RCV005010671 RCV003459617 RCV003459576 RCV003459619 RCV003459626 RCV003472115 RCV003459577 RCV002499161 RCV005010661 RCV003459611 RCV004568557 RCV003472111 RCV005010651 RCV005010658 RCV003472084 RCV003459593 RCV003459602 RCV003472162 RCV005010655 RCV003472137 RCV004568573 RCV003472135 RCV003472206 RCV003472265 RCV004569417 RCV003461018 RCV003229862 RCV005012371 RCV003461274 RCV003461311 RCV003462607 RCV003462616 RCV003462561 RCV004570311 RCV003462682 RCV003462737 RCV005012668 RCV003462825 RCV002499453 RCV003474672 RCV003474673 RCV005394336 RCV003460739 RCV002504988 RCV003460740	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myopathy	Pathogenic; Likely pathogenic	rs80338800, rs1555420508	RCV000626576 RCV000626579	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myositis, eosinophilic	Pathogenic	rs1555423217	RCV000019185	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Qualitative or quantitative defects of calpain	Pathogenic	rs773827877	RCV002810042	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Shoulder girdle muscle weakness	Pathogenic	rs80338800	RCV000415100	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT LIMB GIRDLE MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive limb-girdle muscular dystrophy type 2B	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALPAIN-3-RELATED LIMB GIRDLE MUSCULAR DYSTROPHY D4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALPAIN-3-RELATED LIMB-GIRDLE MUSCULAR DYSTROPHY D4	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALPAIN-3-RELATED LIMB-GIRDLE MUSCULAR DYSTROPHY R1	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial idiopathic inflammatory myopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB-GIRDLE MUSCULAR DYSTROPHY AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy, centronuclear, 2	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARESTHESIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ 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
ACTN3 DEFICIENCY	ACTN3 DEFICIENCY	BEFREE	9309713		★☆☆☆☆ Found in Text Mining only
Alpha-Sarcoglycanopathies	Limb-girdle muscular dystrophy	BEFREE	10069710, 15726252		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	28881388, 32854783	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	9562261		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	34355366	Associate	★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	22443334, 23035061		★☆☆☆☆ Found in Text Mining only
BETHLEM MYOPATHY 1	Bethlem Myopathy	BEFREE	23035061		★☆☆☆☆ Found in Text Mining only
Calpain-3-related limb-girdle muscular dystrophy R1	Limb-girdle muscular dystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	20477750, 25663498		★☆☆☆☆ Found in Text Mining only
Ceroid lipofuscinosis, neuronal 1, infantile	Neuronal ceroid lipofuscinosis	BEFREE	22387303		★☆☆☆☆ Found in Text Mining only
Clubfoot	Clubfoot	Pubtator	31991774	Associate	★☆☆☆☆ Found in Text Mining only
Conduct Disorder	Conduct disorder	Pubtator	31788660	Associate	★☆☆☆☆ Found in Text Mining only
Congenital finger flexion contractures	Congenital finger flexion contractures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	20477750		★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	26632398, 31991774	Associate	★☆☆☆☆ Found in Text Mining only
Contracture of hamstring(s)	Contracture Of Hamstring	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	27864399		★☆☆☆☆ Found in Text Mining only
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	Craniometaphyseal Dysplasia	BEFREE	20477750, 25663498		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	16415965	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	17305703		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	17305703		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17151322, 17305703		★☆☆☆☆ Found in Text Mining only
Distal Myopathies	Distal myopathy	Pubtator	12145747	Associate	★☆☆☆☆ Found in Text Mining only
Dysferlinopathy	Dysferlinopathy	BEFREE	10807695, 11053681, 22825607		★☆☆☆☆ Found in Text Mining only
Dysferlinopathy	Dysferlinopathy	Pubtator	22825607	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia 18	Dystonia	Pubtator	37589857	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eosinophilic myositis (disorder)	Eosinophilic Myositis	BEFREE	16607617, 19285864		★☆☆☆☆ Found in Text Mining only
Eosinophilic myositis (disorder)	Eosinophilic Myositis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Eosinophilic myositis (disorder)	Eosinophilic Myositis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Facioscapulohumeral muscular dystrophy 1a	Facioscapulohumeral muscular dystrophy	Pubtator	33386810	Associate	★☆☆☆☆ Found in Text Mining only
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY	BEFREE	22378277		★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	37589857	Associate	★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Flexion contracture - wrist	Flexion Contracture Of Wrist	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	31931849	Associate	★☆☆☆☆ Found in Text Mining only
Hypereosinophilia	Hypereosinophilia	BEFREE	16607617		★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	16816913		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy, Sporadic	Inclusion body myopathy	BEFREE	31540302		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myositis (disorder)	Inclusion Body Myositis	BEFREE	28330496		★☆☆☆☆ Found in Text Mining only
Infantile neuronal ceroid lipofuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	22387303		★☆☆☆☆ Found in Text Mining only
Juvenile Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	30541466		★☆☆☆☆ Found in Text Mining only
Limb-girdle muscular dystrophy type 2A	Limb-girdle muscular dystrophy	BEFREE	10069710, 10639725, 10807695, 10987085, 11053681, 11371436, 12890817, 14578192, 14645990, 15221789, 15336956, 15351423, 15689361, 15757244, 15843148, 16125114, 16141003, 16344536, 16372320, 16411092, 16533054, 16542520, 16971480, 17157502, 17236769, 17258832, 17318636, 17594342, 17596655, 17702496, 17979987, 18337726, 18563459, 18974005, 19015733, 19226146, 20139084, 20460380, 20580976, 20739790, 21496626, 22006685, 22158424, 22505582, 22820870, 23597518, 23821418, 23908349, 24715573, 25079074, 25135358, 25252031, 26363099, 26632398, 26677118, 27020652, 27055500, 27259757, 28103310, 28300015, 28881388, 28915917, 29241457, 30056071, 30254072, 30415788, 30500922, 30919934, 31263448, 31501033, 31540302, 31776291, 7720071, 8784805, 9642272, 9777948		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy type 2A	Limb-girdle muscular dystrophy	CLINVAR_DG	10102422, 10330340, 10567047, 10679950, 11053681, 11166169, 11245732, 11297944, 11371436, 11525884, 11731278, 12461690, 12890817, 14578192, 14645990, 14981715, 15138196, 15221789, 15351423, 15689361, 15725583, 15726252, 15733273, 15843148, 15884399, 16100770, 16141003, 16372320, 16411092, 16542520, 16607617, 16627476, 16650086, 16971480, 17157502, 17236769, 17258832, 17318636, 17562833, 17702496, 17897828, 17979987, 17994539, 18055493, 18073330, 18334579, 18337726, 18563459, 18854869, 19015733, 19048948, 19156839, 19226146, 19285864, 19364062, 19556129, 20044116, 20517216, 20635405, 20694146, 21204801, 21520333, 21624972, 21984748, 22006685, 22057634, 22158424, 22378277, 22443334, 22926650, 23169433, 23666804, 23677060, 23821418, 24803842, 24846670, 25046369, 25079074, 25135358, 25214167, 25252031, 25326637, 25512505, 25987458, 26060040, 26301378, 26404900, 26484845, 26501342, 26632398, 26677118, 26810512, 26886200, 27011640, 27020652, 27023906, 27055500, 27066545, 27066551, 27066573, 27081656, 27142102, 27234031, 27259757, 27262448, 27363342, 27431290, 27447704, 27500519, 27708273, 27854218, 28403181, 28602176, 28915917, 7720071, 7762565, 7795603, 8624690, 9150160, 9246005, 9266733, 9452114, 9642272, 9655129, 9762961, 9771675, 9777948		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy type 2A	Limb-girdle muscular dystrophy	UNIPROT_DG	27020652, 27234031, 7720071, 8624690, 9150160, 9266733, 9452114, 9655129, 9762961, 9771675		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy type 2A	Limb-girdle muscular dystrophy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy type 2A	Limb-girdle muscular dystrophy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lipoma	Lipoma	Pubtator	31555977	Associate	★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	21533183		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30935141		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21533183		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	16204058, 24126726		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Melanoma	Pubtator	25658320, 26489459	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mild Mental Retardation	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Miyoshi Muscular Dystrophy 1	Miyoshi Muscular Dystrophy	BEFREE	11053681		★☆☆☆☆ Found in Text Mining only
Miyoshi myopathy	Miyoshi Myopathy	BEFREE	11053681		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	10069710, 10102422, 10430828, 10567047, 10607827, 10807695, 11371436, 11516996, 11525884, 12461690, 14578192, 14981715, 15221789, 15531479, 15694138, 15725583, 15843148, 16141003, 16542520, 16816913, 17021404, 17339125, 17596655, 17702496, 18563459, 18974005, 19380703, 20225280, 20634290, 20739790, 22057634, 22311686, 22443334, 22825607, 23300487, 23622359, 23821418, 24618072, 24715573, 25389288, 25877298, 26484845, 26677118, 27005420, 27259757, 27262448, 28403181, 28602176, 28881388, 29528394, 29685414, 30056071, 30415788, 31263448, 31268554, 31410652, 31540302, 31555977, 31612648, 7633422, 8004096, 8320700, 8899051, 8968750, 9150160, 9245996, 9577386		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	LHGDN	15351423, 16290124, 16971480, 17157502, 17318636, 17596655, 17702496, 18337726		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	10102422, 11665864, 16100770, 17318636, 18563459, 18974005, 21533183, 22825607, 25663498, 31540302, 9309711		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular Dystrophy	Muscular dystrophy	LHGDN	15221789, 18974005, 19048948		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular Dystrophy	Muscular dystrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	22825607	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Emery Dreifuss	Emery dreifuss muscular dystrophy	Pubtator	31991774	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Facioscapulohumeral	Facioscapulohumeral muscular dystrophy	Pubtator	22079131	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	22825607, 28915917		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	BEFREE	20225280		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	22378277, 23300487		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4	Limb-Girdle Muscular Dystrophy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	Limb-Girdle Muscular Dystrophy	BEFREE	10069710, 11053681, 27558075		★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	12145747, 20634290, 25877298		★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	28915917		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	19181097, 19380703, 20623375, 22311686, 27259757		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myositis	Myositis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	19291799, 28330496	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24126726, 28535990		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	22825607, 25135358, 31263448, 31776291		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	22825607	Associate	★☆☆☆☆ Found in Text Mining only
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	BEFREE	29599076, 30541466		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17151322		★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type 2A	Osteogenesis imperfecta	Pubtator	9150160	Associate	★☆☆☆☆ Found in Text Mining only
Pectoralis amyotrophy	Pectoralis amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pelizaeus-Merzbacher Disease	Pelizaeus-Merzbacher disease	BEFREE	9562261		★☆☆☆☆ Found in Text Mining only
Pelvic girdle amyotrophy	Pelvic girdle amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive spinal muscular atrophy	Progressive Spinal Muscular Atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30935141		★☆☆☆☆ Found in Text Mining only
Proximal amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	29685414		★☆☆☆☆ Found in Text Mining only
Sarcoglycanopathies	Sarcoglycanopathy	BEFREE	10069710, 11665864, 22825607, 23035061, 9762961		★☆☆☆☆ Found in Text Mining only
Sarcoglycanopathies	Sarcoglycanopathies	Pubtator	22825607	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	31555977		★☆☆☆☆ Found in Text Mining only
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)	Muscular dystrophy	BEFREE	10069710		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	22311686		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	25791791, 31289565		★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	BEFREE	12145747, 20634290, 25877298		★☆☆☆☆ Found in Text Mining only
TIBIAL MUSCULAR DYSTROPHY, TARDIVE	Tibial muscular dystrophy	BEFREE	12145747, 20634290, 25877298		★☆☆☆☆ Found in Text Mining only