DMDA1
MCID: ATS246
MIFTS: 39

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c (DMDA1)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

MalaCards integrated aliases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c:

Name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 12 15
Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type 29 6
Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type 12
Limb-Girdle Muscular Dystrophy Due to Gamma-Sarcoglycan Deficiency 12
Autosomal Recessive Duchenne-Like Muscular Dystrophy Type 1 12
Muscular Dystrophy, Limb-Girdle, Type 2c 12
Deficiency of Sarcoglycan Gamma 12
Gamma-Sarcoglycanopathy 12
Maghrebian Myopathy 12
Lgmd2c 12
Scarmd 12
Dmda1 12

Classifications:



Summaries for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12.

MalaCards based summary : Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c, also known as severe autosomal recessive muscular dystrophy of childhood - north african type, is related to myositis and muscular dystrophy. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c is SGCG (Sarcoglycan Gamma), and among its related pathways/superpathways are Allograft rejection and Dilated cardiomyopathy (DCM). The drugs Lisinopril and Coenzyme Q10 have been mentioned in the context of this disorder. Related phenotypes are scoliosis and macroglossia

Related Diseases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

Diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 myositis 29.6 CAPN3 DMD DYSF
2 muscular dystrophy 29.0 CAPN3 DMD DYSF SGCA SGCB SGCD
3 autosomal recessive limb-girdle muscular dystrophy 28.9 CAPN3 DMD DYSF SGCA SGCD SGCG
4 limb-girdle muscular dystrophy 28.8 CAPN3 DMD DYSF SGCA SGCB SGCD
5 muscular dystrophy, limb-girdle, autosomal recessive 5 11.8
6 muscular dystrophy, limb-girdle, autosomal recessive 3 11.1
7 myoglobinuria 10.1
8 nonsyndromic deafness 10.0
9 dfnb1 10.0
10 autosomal recessive limb-girdle muscular dystrophy type 2l 10.0 DYSF SGCB
11 muscular dystrophy, congenital merosin-deficient, 1a 10.0 DMD SGCA
12 mcleod syndrome 10.0 DMD SGCA
13 localized lipodystrophy 10.0 DMD DYSF
14 familial isolated dilated cardiomyopathy 9.9 DMD SGCD
15 stormorken syndrome 9.9 DMD DYSF
16 autosomal recessive limb-girdle muscular dystrophy type 2j 9.9 CAPN3 SGCB
17 rigid spine muscular dystrophy 1 9.9 DMD DYSF
18 muscular dystrophy, limb-girdle, autosomal recessive 8 9.9 CAPN3 DYSF
19 cardiomyopathy, dilated, 3b 9.9 DMD SGCA SGCD
20 myopathy, congenital 9.9 DMD DYSF
21 dysferlinopathy 9.9 CAPN3 DYSF
22 polyglucosan body myopathy 1 with or without immunodeficiency 9.9 CAPN3 DMD
23 muscular dystrophy-dystroglycanopathy , type c, 5 9.9 CAPN3 DYSF
24 isolated hyperckemia 9.9 CAPN3 DMD
25 muscular dystrophy, becker type 9.8 DMD DYSF SGCA
26 congenital fiber-type disproportion 9.8 DMD DYSF
27 walker-warburg syndrome 9.8 DMD SGCA
28 autosomal recessive limb-girdle muscular dystrophy type 2h 9.8 CAPN3 SGCB SGCG
29 muscular dystrophy, limb-girdle, autosomal recessive 7 9.7 CAPN3 DMD DYSF
30 miyoshi muscular dystrophy 9.7 CAPN3 DMD DYSF
31 bethlem myopathy 1 9.7 CAPN3 DMD DYSF
32 autosomal recessive limb-girdle muscular dystrophy type 2g 9.6 CAPN3 DYSF SGCB SGCG
33 muscular dystrophy, limb-girdle, autosomal recessive 2 9.6 CAPN3 DYSF SGCA SGCB
34 dilated cardiomyopathy 9.5 DMD SGCA SGCB SGCD SGCG
35 autosomal recessive limb-girdle muscular dystrophy type 2a 9.4 CAPN3 DYSF SGCA SGCB SGCG
36 autosomal recessive limb-girdle muscular dystrophy type 2d 9.3 CAPN3 DYSF SGCA SGCB SGCD SGCG
37 autosomal recessive limb-girdle muscular dystrophy type 2f 9.3 CAPN3 DYSF SGCA SGCB SGCD SGCG
38 muscle tissue disease 9.2 CAPN3 DMD DYSF SGCA SGCD SGCG
39 autosomal recessive limb-girdle muscular dystrophy type 2b 9.2 CAPN3 DMD DYSF SGCA SGCB SGCG
40 muscular dystrophy, limb-girdle, autosomal recessive 6 9.1 CAPN3 DMD DYSF SGCA SGCB SGCD
41 muscular disease 9.0 CAPN3 DMD DYSF SGCA SGCB SGCD

Graphical network of the top 20 diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c:



Diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

Symptoms & Phenotypes for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

Human phenotypes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 scoliosis 32 occasional (7.5%) HP:0002650
2 macroglossia 32 frequent (33%) HP:0000158
3 elevated serum creatine phosphokinase 32 frequent (33%) HP:0003236
4 achilles tendon contracture 32 occasional (7.5%) HP:0001771
5 waddling gait 32 frequent (33%) HP:0002515
6 scapular winging 32 frequent (33%) HP:0003691
7 long face 32 occasional (7.5%) HP:0000276
8 increased variability in muscle fiber diameter 32 frequent (33%) HP:0003557
9 neck flexor weakness 32 occasional (7.5%) HP:0003722
10 upper limb muscle weakness 32 frequent (33%) HP:0003484
11 frequent falls 32 frequent (33%) HP:0002359
12 gowers sign 32 occasional (7.5%) HP:0003391
13 difficulty climbing stairs 32 frequent (33%) HP:0003551
14 difficulty running 32 frequent (33%) HP:0009046
15 calf muscle hypertrophy 32 frequent (33%) HP:0008981
16 calf muscle pseudohypertrophy 32 frequent (33%) HP:0003707
17 increased endomysial connective tissue 32 frequent (33%) HP:0100297
18 lumbar hyperlordosis 32 frequent (33%) HP:0002938
19 broad-based gait 32 frequent (33%) HP:0002136
20 right ventricular hypertrophy 32 frequent (33%) HP:0001667
21 tip-toe gait 32 occasional (7.5%) HP:0030051
22 left ventricular systolic dysfunction 32 occasional (7.5%) HP:0025169
23 emg 32 frequent (33%) HP:0003458
24 abnormal macrophage morphology 32 frequent (33%) HP:0004311

MGI Mouse Phenotypes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 CAPN3 DMD SGCA SGCB SGCD SGCG
2 homeostasis/metabolism MP:0005376 9.43 CAPN3 DMD DYSF SGCA SGCD SGCG
3 muscle MP:0005369 9.17 CAPN3 DMD DYSF SGCA SGCB SGCD

Drugs & Therapeutics for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

Drugs for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7, 76547-98-3 5362119
2
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2, Phase 3 303-98-0 5281915
3 Protective Agents Phase 2, Phase 3
4 Vitamins Phase 2, Phase 3
5 Trace Elements Phase 2, Phase 3
6 Antihypertensive Agents Phase 2, Phase 3
7 Ubiquinone Phase 2, Phase 3
8 HIV Protease Inhibitors Phase 2, Phase 3
9 Cardiotonic Agents Phase 2, Phase 3
10
protease inhibitors Phase 2, Phase 3
11 Angiotensin-Converting Enzyme Inhibitors Phase 2, Phase 3
12 Micronutrients Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
2 Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C Completed NCT01344798 Phase 1

Search NIH Clinical Center for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

Genetic Tests for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

Genetic tests related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c:

# Genetic test Affiliating Genes
1 Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type 29 SGCG

Anatomical Context for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

Publications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

Variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

ClinVar genetic disease variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c:

6 (show top 50) (show all 171)
# Gene Variation Type Significance SNP ID Assembly Location
1 SGCG SGCG, 1-BP DEL, 525T deletion Pathogenic
2 SGCG SGCG, 2-BP DEL, 801TC deletion Pathogenic
3 SGCG NM_000231.2(SGCG): c.848G> A (p.Cys283Tyr) single nucleotide variant Pathogenic rs104894422 GRCh37 Chromosome 13, 23898652: 23898652
4 SGCG NM_000231.2(SGCG): c.848G> A (p.Cys283Tyr) single nucleotide variant Pathogenic rs104894422 GRCh38 Chromosome 13, 23324513: 23324513
5 SGCG SGCG, 2-BP DEL, 793TG deletion Pathogenic
6 SGCG SGCG, 1-BP INS, 87T insertion Pathogenic
7 SGCG NM_000231.2(SGCG): c.787G> A (p.Glu263Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104894423 GRCh37 Chromosome 13, 23898591: 23898591
8 SGCG NM_000231.2(SGCG): c.787G> A (p.Glu263Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104894423 GRCh38 Chromosome 13, 23324452: 23324452
9 SGCG NM_000231.2(SGCG): c.787G> A (p.Glu263Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104894423 NCBI36 Chromosome 13, 22796591: 22796591
10 SACS; SGCG NM_000231.2(SGCG): c.*13C> T single nucleotide variant Benign/Likely benign rs9510701 GRCh37 Chromosome 13, 23898693: 23898693
11 SACS; SGCG NM_000231.2(SGCG): c.*13C> T single nucleotide variant Benign/Likely benign rs9510701 GRCh38 Chromosome 13, 23324554: 23324554
12 SGCG NM_000231.2(SGCG): c.228T> C (p.Asp76=) single nucleotide variant Benign/Likely benign rs1800350 GRCh37 Chromosome 13, 23808782: 23808782
13 SGCG NM_000231.2(SGCG): c.228T> C (p.Asp76=) single nucleotide variant Benign/Likely benign rs1800350 GRCh38 Chromosome 13, 23234643: 23234643
14 SGCG NM_000231.2(SGCG): c.312T> G (p.Leu104=) single nucleotide variant Benign rs1800351 GRCh37 Chromosome 13, 23824783: 23824783
15 SGCG NM_000231.2(SGCG): c.312T> G (p.Leu104=) single nucleotide variant Benign rs1800351 GRCh38 Chromosome 13, 23250644: 23250644
16 SGCG NM_000231.2(SGCG): c.347G> A (p.Arg116His) single nucleotide variant Benign/Likely benign rs17314986 GRCh37 Chromosome 13, 23824818: 23824818
17 SGCG NM_000231.2(SGCG): c.347G> A (p.Arg116His) single nucleotide variant Benign/Likely benign rs17314986 GRCh38 Chromosome 13, 23250679: 23250679
18 SACS; SGCG NM_000231.2(SGCG): c.705T> C (p.Leu235=) single nucleotide variant Benign/Likely benign rs1800353 GRCh37 Chromosome 13, 23898509: 23898509
19 SACS; SGCG NM_000231.2(SGCG): c.705T> C (p.Leu235=) single nucleotide variant Benign/Likely benign rs1800353 GRCh38 Chromosome 13, 23324370: 23324370
20 SGCG NM_000231.2(SGCG): c.196-6195C> T single nucleotide variant Likely benign rs207473592 GRCh37 Chromosome 13, 23802555: 23802555
21 SGCG NM_000231.2(SGCG): c.196-6195C> T single nucleotide variant Likely benign rs207473592 GRCh38 Chromosome 13, 23228416: 23228416
22 SGCG NM_000231.2(SGCG): c.435C> T (p.Asn145=) single nucleotide variant Benign rs35628352 GRCh37 Chromosome 13, 23853547: 23853547
23 SGCG NM_000231.2(SGCG): c.435C> T (p.Asn145=) single nucleotide variant Benign rs35628352 GRCh38 Chromosome 13, 23279408: 23279408
24 SGCG NM_000231.2(SGCG): c.525delT (p.Phe175Leufs) deletion Pathogenic rs786204786 GRCh37 Chromosome 13, 23869573: 23869573
25 SGCG NM_000231.2(SGCG): c.525delT (p.Phe175Leufs) deletion Pathogenic rs786204786 GRCh38 Chromosome 13, 23295434: 23295434
26 SGCG NM_000231.2(SGCG): c.735dupC (p.Lys246Glnfs) duplication Pathogenic rs797044783 GRCh37 Chromosome 13, 23898539: 23898539
27 SGCG NM_000231.2(SGCG): c.735dupC (p.Lys246Glnfs) duplication Pathogenic rs797044783 GRCh38 Chromosome 13, 23324400: 23324400
28 SGCG NM_000231.2(SGCG): c.195+4_195+7delAGTA deletion Pathogenic/Likely pathogenic rs797045106 GRCh37 Chromosome 13, 23778032: 23778035
29 SGCG NM_000231.2(SGCG): c.195+4_195+7delAGTA deletion Pathogenic/Likely pathogenic rs797045106 GRCh38 Chromosome 13, 23203893: 23203896
30 SGCG NM_000231.2(SGCG): c.690T> A (p.Ser230Arg) single nucleotide variant Pathogenic rs875989949 GRCh37 Chromosome 13, 23894887: 23894887
31 SGCG NM_000231.2(SGCG): c.690T> A (p.Ser230Arg) single nucleotide variant Pathogenic rs875989949 GRCh38 Chromosome 13, 23320748: 23320748
32 SGCG NM_000231.2(SGCG): c.860G> A (p.Ser287Asn) single nucleotide variant Benign rs1800354 GRCh38 Chromosome 13, 23324525: 23324525
33 SGCG NM_000231.2(SGCG): c.860G> A (p.Ser287Asn) single nucleotide variant Benign rs1800354 GRCh37 Chromosome 13, 23898664: 23898664
34 SGCG NM_000231.2(SGCG): c.*10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs139369964 GRCh37 Chromosome 13, 23898690: 23898690
35 SGCG NM_000231.2(SGCG): c.*10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs139369964 GRCh38 Chromosome 13, 23324551: 23324551
36 SGCG NM_000231.2(SGCG): c.581T> C (p.Leu194Ser) single nucleotide variant Pathogenic/Likely pathogenic rs547818652 GRCh37 Chromosome 13, 23894778: 23894778
37 SGCG NM_000231.2(SGCG): c.581T> C (p.Leu194Ser) single nucleotide variant Pathogenic/Likely pathogenic rs547818652 GRCh38 Chromosome 13, 23320639: 23320639
38 SGCG NM_000231.2(SGCG): c.507G> T (p.Gly169=) single nucleotide variant Conflicting interpretations of pathogenicity rs199905729 GRCh37 Chromosome 13, 23869555: 23869555
39 SGCG NM_000231.2(SGCG): c.507G> T (p.Gly169=) single nucleotide variant Conflicting interpretations of pathogenicity rs199905729 GRCh38 Chromosome 13, 23295416: 23295416
40 SGCG NM_000231.2(SGCG): c.452_458delTTACTGT (p.Phe151Terfs) deletion Pathogenic rs886042540 GRCh37 Chromosome 13, 23853564: 23853570
41 SGCG NM_000231.2(SGCG): c.452_458delTTACTGT (p.Phe151Terfs) deletion Pathogenic rs886042540 GRCh38 Chromosome 13, 23279425: 23279431
42 SGCG NM_000231.2(SGCG): c.195+1G> C single nucleotide variant Pathogenic/Likely pathogenic rs200502077 GRCh37 Chromosome 13, 23778029: 23778029
43 SGCG NM_000231.2(SGCG): c.195+1G> C single nucleotide variant Pathogenic/Likely pathogenic rs200502077 GRCh38 Chromosome 13, 23203890: 23203890
44 SGCG NM_000231.2(SGCG): c.752delC (p.Thr251Serfs) deletion Pathogenic rs886042749 GRCh37 Chromosome 13, 23898556: 23898556
45 SGCG NM_000231.2(SGCG): c.752delC (p.Thr251Serfs) deletion Pathogenic rs886042749 GRCh38 Chromosome 13, 23324417: 23324417
46 SGCG NM_000231.2(SGCG): c.386-2A> G single nucleotide variant Pathogenic rs886042757 GRCh37 Chromosome 13, 23853496: 23853496
47 SGCG NM_000231.2(SGCG): c.386-2A> G single nucleotide variant Pathogenic rs886042757 GRCh38 Chromosome 13, 23279357: 23279357
48 SGCG NM_000231.2(SGCG): c.803C> T (p.Pro268Leu) single nucleotide variant Uncertain significance rs143110015 GRCh37 Chromosome 13, 23898607: 23898607
49 SGCG NM_000231.2(SGCG): c.803C> T (p.Pro268Leu) single nucleotide variant Uncertain significance rs143110015 GRCh38 Chromosome 13, 23324468: 23324468
50 SGCG NM_000231.2(SGCG): c.235C> T (p.Arg79Cys) single nucleotide variant Uncertain significance rs148404730 GRCh37 Chromosome 13, 23808789: 23808789

Expression for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

Search GEO for disease gene expression data for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c.

Pathways for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

GO Terms for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

Cellular components related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.91 CAPN3 DMD DYSF SGCA SGCB SGCD
2 cytoskeleton GO:0005856 9.72 DMD SGCA SGCB SGCD SGCG
3 dystrophin-associated glycoprotein complex GO:0016010 9.56 DMD SGCA SGCB SGCD
4 Z disc GO:0030018 9.46 CAPN3 DMD
5 sarcoglycan complex GO:0016012 9.46 SGCA SGCB SGCD SGCG
6 myofibril GO:0030016 9.43 CAPN3 DMD
7 T-tubule GO:0030315 9.4 CAPN3 DYSF
8 dystroglycan complex GO:0016011 9.26 SGCA SGCB SGCD SGCG
9 sarcolemma GO:0042383 9.1 DMD DYSF SGCA SGCB SGCD SGCG

Biological processes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.4 DYSF SGCA
2 muscle cell cellular homeostasis GO:0046716 9.37 CAPN3 DMD
3 skeletal muscle tissue regeneration GO:0043403 9.33 DMD DYSF SGCA
4 heart contraction GO:0060047 9.32 SGCD SGCG
5 response to denervation involved in regulation of muscle adaptation GO:0014894 9.26 DMD SGCA
6 muscle fiber development GO:0048747 9.13 DMD DYSF SGCB
7 muscle organ development GO:0007517 9.1 CAPN3 DMD SGCA SGCB SGCD SGCG

Molecular functions related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 8.62 CAPN3 DMD

Sources for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

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