SGCA (sarcoglycan alpha)

Gene

• Entrez ID: 6442
• Gene name: Sarcoglycan alpha
• Gene symbol: SGCA
• Synonyms (NCBI Gene): 50DAG, ADL, DAG2, DMDA2, LGMD2D, LGMDR3, SCARMD1, adhalin
• Chromosome: 17
• Chromosome location: 17q21.33
• Summary: This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35972733	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, intron variant, non coding transcript variant, coding sequence variant
rs137852623	C>G,T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs138019537	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs139454982	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, intron variant, synonymous variant, non coding transcript variant
rs143570936	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs149487996	C>A	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, non coding transcript variant, coding sequence variant
rs200166783	G>A,T	Uncertain-significance, pathogenic-likely-pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs368522117	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, stop gained, coding sequence variant
rs369385261	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs757481230	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs763372958	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant, non coding transcript variant
rs796065318	->CG	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886043392	G>A	Pathogenic	Intron variant, splice donor variant
rs886043962	C>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs886044512	C>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1057516548	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1057516729	AG>T	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1057517377	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1220674950	G>-	Likely-pathogenic	Splice acceptor variant, intron variant, coding sequence variant, non coding transcript variant
rs1342189589	G>A,C	Pathogenic	Intron variant, splice acceptor variant
rs1412537279	A>T	Likely-pathogenic	Splice acceptor variant, intron variant, non coding transcript variant
rs1555568965	A>C,T	Likely-pathogenic	Intron variant, splice acceptor variant
rs1555569339	G>T	Likely-pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1555569342	TGAATGTGGGCATGAAGG>-	Likely-pathogenic	Splice donor variant, intron variant, non coding transcript variant, coding sequence variant
rs1567741398	C>T	Pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1598277713	->ATGG	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	21516116, 25416956, 25910212, 26871637, 32296183, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IEA
GO:0006936	Process	Muscle contraction	TAS	8069911
GO:0007517	Process	Muscle organ development	TAS	7663524
GO:0016010	Component	Dystrophin-associated glycoprotein complex	IEA
GO:0016010	Component	Dystrophin-associated glycoprotein complex	TAS	7937874
GO:0016011	Component	Dystroglycan complex	IEA
GO:0016012	Component	Sarcoglycan complex	IBA
GO:0016012	Component	Sarcoglycan complex	IEA
GO:0016020	Component	Membrane	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0045121	Component	Membrane raft	IEA

Other IDs

• MIM: 600119
• HGNC: 10805
• e!Ensembl: ENSG00000108823

Protein

• UniProt ID: Q16586
• Protein name: Alpha-sarcoglycan (Alpha-SG) (50 kDa dystrophin-associated glycoprotein) (50DAG) (Adhalin) (Dystroglycan-2)
• Protein function: Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05510	Sarcoglycan_2	7 → 382	Sarcoglycan alpha/epsilon	Family

• Tissue specificity: TISSUE SPECIFICITY: Most strongly expressed in skeletal muscle. Also expressed in cardiac muscle and, at much lower levels, in lung. In the fetus, most abundant in cardiac muscle and, at lower levels, in lung. Also detected in liver and kidney. Not expres
• Sequence:

  MAETLFWTPLLVVLLAGLGDTEAQQTTLHPLVGRVFVHTLDHETFLSLPEHVAVPPAVHI
  TYHAHLQGHPDLPRWLRYTQRSPHHPGFLYGSATPEDRGLQVIEVTAYNRDSFDTTRQRL
  VLEIGDPEGPLLPYQAEFLVRSHDAEEVLPSTPASRFLSALGGLWEPGELQLLNVTSALD
  RGGRVPLPIEGRKEGVYIKVGSASPFSTCLKMVASPDSHARCAQGQPPLLSCYDTLAPHF
  RVDWCNVTLVDKSVPEPADEVPTPGDGILEHDPFFCPPTEAPDRDFLVDALVTLLVPLLV
  ALLLTLLLAYVMCCRREGRLKRDLATSDIQMVHHCTIHGNTEELRQMAASREVPRPLSTL
  PMFNVHTGERLPPRVDSAQVPLILDQH

• Sequence length: 387

Pathways

KEGG:

Cytoskeleton in muscle cells
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Viral myocarditis

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	rs2144493345, rs2144494074, rs2144495228, rs28933693, rs387907298	RCV001814459 RCV001814397 RCV001814458 RCV001813971 RCV001836716	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive limb-girdle muscular dystrophy	Likely pathogenic; Pathogenic	rs2509113878, rs143570936, rs757888349, rs890921874, rs760608643, rs758647756, rs1373671710, rs2509117903, rs137852621, rs28933693, rs137852623, rs886041387, rs138945081, rs780264754, rs757481230, rs748936034, rs387907298, rs138254713, rs1342189589, rs1904986620, rs1391089933, rs371675217, rs398123098	RCV002281872 RCV002271422 RCV003330528 RCV005433332 RCV004998385 RCV004998420 RCV003123566 RCV003155829 RCV002307361 RCV003987316 RCV001194149 RCV003114441 RCV004701375 RCV006445648 RCV003317182 RCV005000097 RCV004998112 RCV005000367 RCV005000368 RCV004689979 RCV004998780 RCV004998203 RCV004998204	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive limb-girdle muscular dystrophy type 2D	Pathogenic; Likely pathogenic	rs2144494148, rs2144498403, rs111386656, rs2144502043, rs2144493135, rs1905070544, rs780264754, rs2144495228, rs2144493097, rs2144501172, rs76542495, rs2144498121, rs2144496721, rs2144498569, rs2144500924, rs398123098, rs2144494642, rs758647756, rs2144493427, rs779439298, rs1473539605, rs2144494297, rs2144498132, rs2144493323, rs1017592342, rs2144501024, rs2144497138, rs2509123275, rs2509125625, rs2509113878, rs143570936, rs759624003, rs2509118076, rs2509117896, rs757888349, rs768814872, rs765864199, rs796065318, rs890921874, rs760608643, rs763986788, rs1482631076, rs2509118949, rs2509118810, rs2509119198, rs1342319346, rs1373671710, rs137852621, rs137852622, rs28933693, rs397514451, rs137852623, rs886041387, rs138945081, rs886043221, rs372210292, rs886043392, rs886043962, rs757481230, rs753650776, rs766400853, rs886044688, rs201860673, rs2509123048, rs2509122225, rs2509121499, rs2509121804, rs2509117878, rs2509125245, rs1384158714, rs1370709181, rs2509133581, rs2509118207, rs2509119030, rs2509113935, rs1228963839, rs2509125153, rs2509133663, rs2509118693, rs2509122255, rs1057516888, rs370819630, rs145697858, rs2509113948, rs1567741236, rs2509118765, rs1352135631, rs1598266203, rs749205073, rs1184946403, rs1057517107, rs1057516300, rs1057516650, rs1057517142, rs1057516242, rs1057516664, rs1057517377, rs1057516548, rs1057516729, rs144356125, rs1555568335, rs1555568318, rs748936034, rs387907298, rs752640127, rs200166783, rs1327595249, rs1555568518, rs1555568264, rs138254713, rs1342189589, rs112500642, rs1220674950, rs1412537279, rs1555568775, rs1555569339, rs903823830, rs1555568965, rs1555569342, rs763372958, rs1555568325, rs1555568396, rs1161291343, rs1555568876, rs1567739339, rs1567739228, rs1598277713, rs1567739735, rs1567741398, rs1387802849, rs1598265248, rs1904771410, rs1904986620, rs1905103030, rs1905167458, rs1905254738, rs1905256830, rs760989961, rs113109898, rs774299871, rs1391089933, rs371675217	RCV001360645 RCV001360119 RCV001377955 RCV001377786 RCV001380121 RCV001386680 RCV001380152 RCV005409822 RCV001582428 RCV001784968 RCV001989364 RCV002013697 RCV002019216 RCV001985841 RCV001941636 RCV001930566 RCV002041840 RCV002019675 RCV001981888 RCV002002976 RCV001893883 RCV001917918 RCV001989171 RCV002002557 RCV001963134 RCV001883739 RCV002003503 RCV002005157 RCV002466746 RCV002466747 RCV003621621 RCV000179241 RCV002309691 RCV002310513 RCV002310519 RCV000169146 RCV000169036 RCV003073926 RCV003474923 RCV002629406 RCV000648057 RCV002642509 RCV002727063 RCV002842269 RCV002880920 RCV002972132 RCV000201165 RCV003020880 RCV003509775 RCV000010042 RCV000010043 RCV000010044 RCV000010045 RCV000010046 RCV003233535 RCV000309945 RCV000286102 RCV000403326 RCV000341255 RCV001378409 RCV003621525 RCV000675091 RCV000411266 RCV003334456 RCV003338032 RCV003133209 RCV003472659 RCV003472660 RCV003472662 RCV003472663 RCV003472664 RCV003472665 RCV003472666 RCV003472667 RCV003472668 RCV003472669 RCV003472670 RCV003472671 RCV003472672 RCV003472673 RCV003472674 RCV003463544 RCV003486338 RCV003486339 RCV003486340 RCV003510670 RCV003509020 RCV003509021 RCV003622754 RCV003623093 RCV003623429 RCV004573573 RCV004573575 RCV004573576 RCV004573577 RCV004573578 RCV000411207 RCV000409677 RCV000410516 RCV000412176 RCV000410508 RCV000410603 RCV000409089 RCV000411377 RCV000409217 RCV000410962 RCV000411428 RCV000536997 RCV001824141 RCV000499843 RCV000669831 RCV000030783 RCV000529542 RCV000553098 RCV000531212 RCV000648060 RCV002530966 RCV003139891 RCV001783095 RCV003471962 RCV000984214 RCV000668485 RCV000671062 RCV000672180 RCV000665054 RCV000665422 RCV000669806 RCV000665388 RCV000670790 RCV000664601 RCV000671951 RCV000665165 RCV000705167 RCV000705659 RCV000706234 RCV000695383 RCV001862188 RCV003472264 RCV003621568 RCV001381638 RCV000786065 RCV000792267 RCV000855431 RCV001046661 RCV001067642 RCV001063795 RCV001038073 RCV001051164 RCV001057349 RCV001062845 RCV001050871 RCV001221207 RCV001255990 RCV000169164 RCV001854369	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Limb-girdle muscular dystrophy	Pathogenic	rs28933693	RCV005624683	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy	Likely pathogenic; Pathogenic	rs138945081	RCV004798826	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoglycanopathy	Likely pathogenic; Pathogenic	rs143570936, rs28933693, rs137852623	RCV000779226 RCV000779225 RCV000778108	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SGCA-related disorder	Likely pathogenic; Pathogenic	rs757481230, rs398123098	RCV004755847 RCV004755760	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic right ventricular cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystrophin deficiency	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Elevated circulating creatine kinase concentration	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	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
Proximal muscle weakness	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Qualitative or quantitative defects of alpha-sarcoglycan	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOGLYCANOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	8243517		★☆☆☆☆ Found in Text Mining only
Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3	Alpha-Sarcoglycan Muscular Dystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
Alpha-Sarcoglycanopathies	Limb-girdle muscular dystrophy	BEFREE	10069710, 10842281, 15736300, 18252745, 18252746, 19798725, 21031578, 21903674, 24742800, 25106685, 26944168, 27297959, 28797108, 29351619, 30007747, 30838895, 31061434, 31649958, 9192266, 9393893		★☆☆☆☆ Found in Text Mining only
Alpha-Sarcoglycanopathies	Limb-girdle muscular dystrophy	CLINVAR_DG	10993494, 11121445, 11475588, 12075495, 12566530, 12746421, 14595658, 15298081, 15736300, 15833425, 16616845, 16778590, 16787395, 17994539, 18252745, 18285821, 18421900, 18535179, 18996010, 19798725, 21856579, 22095924, 24464767, 24565866, 24742800, 25046369, 25135358, 25214167, 26404900, 26453141, 26916285, 26934379, 27120200, 28403181, 29351619, 7663524, 7668821, 8069911, 8866424, 9032047, 9153448, 9192266, 9455986		★☆☆☆☆ Found in Text Mining only
Alpha-Sarcoglycanopathies	Limb-girdle muscular dystrophy	ORPHANET_DG	19798725, 21856579		★☆☆☆☆ Found in Text Mining only
Alpha-Sarcoglycanopathies	Limb-girdle muscular dystrophy	UNIPROT_DG	30345904, 7657792, 7663524, 8069911, 8528203, 9032047, 9192266, 9585331		★☆☆☆☆ Found in Text Mining only
Alpha-Sarcoglycanopathies	Limb-girdle muscular dystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Alpha-Sarcoglycanopathies	Limb-girdle muscular dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28691515, 30554993		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28691515, 30554993		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	31468510		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	16183658, 8064304, 8891069		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	BEFREE	30651896		★☆☆☆☆ Found in Text Mining only
Bundle Branch Block	Bundle branch block	Pubtator	33567613	Associate	★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	16258658		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	10662809	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	8505286		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	9505924	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	9505924		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28381510, 28527229, 29439358, 29514685, 29961346, 30928303, 31029652, 31177249		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	30764848		★☆☆☆☆ Found in Text Mining only
Chronic Neutrophilic Leukemia	Neutrophilic Leukemia	BEFREE	12472276		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29134264		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	31489463		★☆☆☆☆ Found in Text Mining only
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	Craniometaphyseal Dysplasia	BEFREE	16258658		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	27910255		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	29236217, 31719067		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	27614076, 29161462, 29236217, 29886075, 30521375, 30554993, 31029652, 31768550, 31781730		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	37628638	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31672444		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31672444		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	28157106		★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	20019182		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	31931849	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	10662809	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31489463		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	19133663		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28346562		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29289386, 29949390, 30594183, 30863265, 31391041		★☆☆☆☆ Found in Text Mining only
Limb-girdle muscle atrophy	Limb-girdle muscle atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Limb-girdle muscular dystrophy type 2F	Limb-girdle muscular dystrophy	BEFREE	28797108		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29161462		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	29289386, 30379316, 31310959, 8866424		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	27614076, 29161462, 29236217, 29886075, 30521375, 30554993, 31029652, 31768550, 31781730		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	30249231		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	BEFREE	29789032		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	31621618		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	36680379	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	10933922, 11303236, 16183658, 18525034, 24565866, 26916285, 26934379, 29360879, 31836381, 8528203, 8677023, 8776597, 9027857, 9585331, 9608559		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	LHGDN	18996010		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	11121445, 15736300, 16831885, 18252746, 19798725, 21903674, 7657792, 7668821, 8012192, 8064304, 8069911, 8281158, 8825917, 8866424, 9192266, 9393893, 9429136		★★★★☆ 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	7657792	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	11121445, 8891069, 9032047		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	30697753		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	18252745, 7663524, 8505286, 9032047, 9153448		★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	7657792	Associate	★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	25135358		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	33567613	Associate	★☆☆☆☆ Found in Text Mining only
Ocular Cicatricial Pemphigoid	Ocular Cicatricial Pemphigoid	BEFREE	29161462		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27726132, 27836715, 29147597		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	28389156		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	30061737		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	29236217, 31719067		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	31054580		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	31372851		★☆☆☆☆ Found in Text Mining only
Sarcoglycanopathies	Sarcoglycanopathy	CLINVAR_DG	10942431, 12566530, 12746421, 15736300, 17994539, 18252745, 18285821, 18421900, 18535179, 18996010, 21031578, 21856579, 24565866, 25135358, 27120200, 7663524, 8528203, 9032047, 9153448, 9192266, 9585331		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoglycanopathies	Sarcoglycanopathies	Pubtator	18535179, 19798725, 21031578, 24565866, 29351619, 30764848, 30989758, 31061434, 33386810, 33458577, 9192266, 9475163	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoglycanopathies	Sarcoglycanopathy	BEFREE	28219397, 28687063, 29360879, 30764848, 9429136		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoglycanopathies	Sarcoglycanopathies	Pubtator	39755676	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoglycanopathies	Sarcoglycanopathies	Pubtator	9429136	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoglycanopathies	Sarcoglycanopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	BEFREE	25106685		★☆☆☆☆ Found in Text Mining only
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)	Muscular dystrophy	BEFREE	10714584, 8012192, 8069911, 8093083, 8866424, 9455986		★☆☆☆☆ Found in Text Mining only