LGMD3
MCID: LMB020
MIFTS: 34

Limb-Girdle Muscular Dystrophy, Type 2b (LGMD3) malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories

Summaries for Limb-Girdle Muscular Dystrophy, Type 2b

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NIH Rare Diseases:42 Limb-girdle muscular dystrophy type 2b (lgmd2b) is an inherited condition that affects the muscles and is caused by mutations in the gene encoding dysferlin, located on chromosome 2p12. this condition belongs to a group of muscle disorders called limb-girdle muscular dystrophies, which are characterized by progressive loss of muscle bulk and symmetrical weakening of voluntary muscles, primarily those in the shoulders and around the hips. individuals with lgmd2b have minimal shoulder girdle and calf involvement. age of onset is between the teen years and the late 30s. there is no clear evidence of cardiac involvement. the condition is inherited in an autosomal recessive manner. no specific treatment is known. many patients utilize physical therapy to prevent the worsening of contractures. last updated: 11/1/2010

MalaCards based summary: Limb-Girdle Muscular Dystrophy, Type 2b, also known as muscular dystrophy, limb-girdle, type 2b, is related to limb-girdle muscular dystrophy and muscular dystrophy, and has symptoms including autosomal recessive inheritance, elevated serum creatine phosphokinase and emg. An important gene associated with Limb-Girdle Muscular Dystrophy, Type 2b is DYSF (dysferlin).

Description from OMIM:46 253601

Aliases & Classifications for Limb-Girdle Muscular Dystrophy, Type 2b

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Sources:
31LifeMap Discovery®, 42NIH Rare Diseases, 10diseasecard, 21GeneTests, 23GTR, 46OMIM, 61UMLS, 44Novoseek, 48Orphanet, 27ICD10 via Orphanet
See all sources

Limb-Girdle Muscular Dystrophy, Type 2b, Aliases & Descriptions:

Name: Limb-Girdle Muscular Dystrophy, Type 2b 31 42
Muscular Dystrophy, Limb-Girdle, Type 2b 10 21 23 46 61
Lgmd2b 42 44 48
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 48
 
Limb-Girdle Muscular Dystrophy Due to Dysferlin Deficiency 48
Muscular Dystrophy, Limb-Girdle, Type 3 42
Lgmd3 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

48
lgmd2b:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Adulthood; Age of death: Normal


External Ids:

OMIM46 253601
ICD10 via Orphanet27 G71.0

Related Diseases for Limb-Girdle Muscular Dystrophy, Type 2b

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Diseases in the Limb-Girdle Muscular Dystrophy, Type 2d family:

Limb-Girdle Muscular Dystrophy Type 2i limb-girdle muscular dystrophy, type 2b
Limb-Girdle Muscular Dystrophy Limb-Girdle Muscular Dystrophy Type 2e
Limb-Girdle Muscular Dystrophy Type 2f Limb-Girdle Muscular Dystrophy Type 2h
Limb-Girdle Muscular Dystrophy, Type 1a Limb-Girdle Muscular Dystrophy, Type 1b
Limb-Girdle Muscular Dystrophy, Type 2c Limb-Girdle Muscular Dystrophy, Type 2g
Limb-Girdle Muscular Dystrophies, Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d
Limb-Girdle Muscular Dystrophy Type 1e Limb-Girdle Muscular Dystrophy Type 1c
Limb-Girdle Muscular Dystrophy Type 2k Limb-Girdle Muscular Dystrophy Type 2j
Limb-Girdle Muscular Dystrophy Type 2m Limb-Girdle Muscular Dystrophy Type 2o
Limb-Girdle Muscular Dystrophy Type 2n Limb-Girdle Muscular Dystrophy Type 1f
Limb-Girdle Muscular Dystrophy Type 1g Limb-Girdle Muscular Dystrophy Type 2q
Limb-Girdle Muscular Dystrophy Type 1h Limb-Girdle Muscular Dystrophy Type 2l
Muscular Dystrophy, Limb-Girdle, Type 2r Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1h
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e

Diseases related to Limb-Girdle Muscular Dystrophy, Type 2b via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1limb-girdle muscular dystrophy11.0
2muscular dystrophy11.0
3myopathy10.8
4dysferlinopathy10.7
5miyoshi myopathy10.6
6polymyositis10.5
7dysphagia10.5
8calpainopathy10.2

Graphical network of diseases related to Limb-Girdle Muscular Dystrophy, Type 2b:



Diseases related to limb-girdle muscular dystrophy, type 2b

Symptoms for Limb-Girdle Muscular Dystrophy, Type 2b

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Symptoms by clinical synopsis from OMIM:

253601

Clinical features from OMIM:

253601

HPO human phenotypes related to Limb-Girdle Muscular Dystrophy, Type 2b:

(show all 11)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 elevated serum creatine phosphokinase HP:0003236
3 emg HP:0003458
4 difficulty climbing stairs HP:0003551
5 muscle fiber splitting HP:0003555
6 increased variability in muscle fiber diameter HP:0003557
7 muscular dystrophy HP:0003560
8 slow progression HP:0003677
9 proximal muscle weakness HP:0003701
10 increased connective tissue HP:0009025
11 difficulty running HP:0009046

Drugs & Therapeutics for Limb-Girdle Muscular Dystrophy, Type 2b

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Drug clinical trials:

Search ClinicalTrials for Limb-Girdle Muscular Dystrophy, Type 2b

Search NIH Clinical Center for Limb-Girdle Muscular Dystrophy, Type 2b

Genetic Tests for Limb-Girdle Muscular Dystrophy, Type 2b

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Genetic tests related to Limb-Girdle Muscular Dystrophy, Type 2b:

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy Type 2b21
2 Limb-Girdle Muscular Dystrophy, Type 2b23

Anatomical Context for Limb-Girdle Muscular Dystrophy, Type 2b

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Animal Models for Limb-Girdle Muscular Dystrophy, Type 2b or affiliated genes

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Publications for Limb-Girdle Muscular Dystrophy, Type 2b

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Articles related to Limb-Girdle Muscular Dystrophy, Type 2b:

(show all 11)
idTitleAuthorsYear
1
Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report. (23641709)
2013
2
Progressive dysphagia in limb-girdle muscular dystrophy type 2B. (21484829)
2011
3
Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b. (18495154)
2008
4
Limb-girdle muscular dystrophy type 2B mimicking polymyositis. (18392421)
2008
5
Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF. (17129727)
2007
6
Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E. (16934466)
2006
7
Clinical and pathological characteristics of four Korean patients with limb-girdle muscular dystrophy type 2B. (15201514)
2004
8
Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. (11134403)
2000
9
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). (11053681)
2000
10
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). (10196377)
1999
11
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. (9731527)
1998

Variations for Limb-Girdle Muscular Dystrophy, Type 2b

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UniProtKB/Swiss-Prot genetic disease variations for Limb-Girdle Muscular Dystrophy, Type 2b:

63 (show all 25)
id Symbol AA change Variation ID SNP ID
1DYSFp.Pro791ArgVAR_012308
2DYSFp.Ile1298ValVAR_012309rs121908954
3DYSFp.Arg2042CysVAR_012311
4DYSFp.Ala170GluVAR_024853rs34999029
5DYSFp.Arg555TrpVAR_024859
6DYSFp.Arg959TrpVAR_024860
7DYSFp.Ile1208MetVAR_024865rs148858485
8DYSFp.Glu1335LysVAR_024868
9DYSFp.Trp52ArgVAR_057834
10DYSFp.Val67AspVAR_057835
11DYSFp.Gly155ArgVAR_057837
12DYSFp.Gly234GluVAR_057838
13DYSFp.Ile284ThrVAR_057839
14DYSFp.Gly299ArgVAR_057840
15DYSFp.Gly618ArgVAR_057851
16DYSFp.Gly621ArgVAR_057852
17DYSFp.Asp625TyrVAR_057853
18DYSFp.Pro731ArgVAR_057854
19DYSFp.Leu1228ProVAR_057860
20DYSFp.Leu1341ProVAR_057862
21DYSFp.Tyr1505CysVAR_057864
22DYSFp.Lys1526ThrVAR_057865rs76086153
23DYSFp.Gly1543AspVAR_057866
24DYSFp.Glu1734GlyVAR_057872
25DYSFp.Pro1970SerVAR_057880

Clinvar genetic disease variations for Limb-Girdle Muscular Dystrophy, Type 2b:

7 (show all 16)
id Gene Name Type Significance SNP ID Assembly Location
1DYSFDYSF, 5492G-Asingle nucleotide variantPathogenic
2DYSFNM_001130978.1(DYSF): c.3892A> G (p.Ile1298Val)single nucleotide variantPathogenicrs121908954GRCh37Chr 2, 71829924: 71829924
3DYSFNM_001130978.1(DYSF): c.6187C> T (p.Arg2063Cys)single nucleotide variantPathogenicrs121908955GRCh37Chr 2, 71909727: 71909727
4DYSFDYSF, 5-BP DELETION AND 4-BP INSERTION, NT4872indelPathogenic
5DYSFDYSF, 23-BP INSinsertionPathogenic
6DYSFNM_001130978.1(DYSF): c.2372C> G (p.Pro791Arg)single nucleotide variantPathogenicrs121908956GRCh37Chr 2, 71791204: 71791204
7DYSFDYSF, NT5711, G-A, +5single nucleotide variantPathogenic
8DYSFNM_001130978.1(DYSF): c.200_201delTGinsAT (p.Val67Asp)indelPathogenicrs121908957GRCh37Chr 2, 71709064: 71709065
9DYSFNM_001130978.1(DYSF): c.5776C> T (p.Arg1926Ter)single nucleotide variantPathogenicrs121908959GRCh37Chr 2, 71901372: 71901372
10DYSFNM_001130978.1(DYSF): c.1873G> T (p.Asp625Tyr)single nucleotide variantPathogenicrs121908960GRCh37Chr 2, 71780261: 71780261
11DYSFNM_001130978.1(DYSF): c.5264A> G (p.Glu1755Gly)single nucleotide variantPathogenicrs121908961GRCh37Chr 2, 71894506: 71894506
12DYSFDYSF, IVS31DS, A-G, -33single nucleotide variantPathogenic
13DYSFNM_001130978.1(DYSF): c.895G> A (p.Gly299Arg)single nucleotide variantPathogenicrs121908963GRCh37Chr 2, 71744158: 71744158
14DYSFDYSF, IVS14AS, A-G, -2single nucleotide variantPathogenic
15DYSFDYSF, 1-BP DEL, 855+1GdeletionPathogenic
16DYSFDYSF, 1-BP DEL, 2776GdeletionPathogenic

Expression for genes affiliated with Limb-Girdle Muscular Dystrophy, Type 2b

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LifeMap Discovery
Genes differentially expressed in tissues of Limb-Girdle Muscular Dystrophy, Type 2b patients vs. healthy controls: 31 (show all 174)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1MYH3myosin, heavy chain 3, skeletal muscle, embryonicSkeletal Muscle+4.550.000
2SPP1secreted phosphoprotein 1Skeletal Muscle+2.660.000
3AQP4aquaporin 4Skeletal Muscle-2.630.000
4NNMTnicotinamide N-methyltransferaseSkeletal Muscle+2.400.000
5COL1A1collagen, type I, alpha 1Skeletal Muscle+2.300.000
6MYH8myosin, heavy chain 8, skeletal muscle, perinatalSkeletal Muscle+2.300.000
7ACTC1actin, alpha, cardiac muscle 1Skeletal Muscle+2.210.000
8DCLK1doublecortin-like kinase 1Skeletal Muscle+2.200.000
9FRZBfrizzled-related proteinSkeletal Muscle+2.180.000
10S100A4S100 calcium binding protein A4Skeletal Muscle+2.120.000
11XISTX inactive specific transcript (non-protein coding)Skeletal Muscle+2.080.000
12PRUNE2prune homolog 2 (Drosophila)Skeletal Muscle+2.060.000
13PLA2G2Aphospholipase A2, group IIA (platelets, synovial fluid)Skeletal Muscle+1.970.000
14COL3A1collagen, type III, alpha 1Skeletal Muscle+1.910.000
15COL1A2collagen, type I, alpha 2Skeletal Muscle+1.900.000
16TIMP1TIMP metallopeptidase inhibitor 1Skeletal Muscle+1.810.000
17TUBB6tubulin, beta 6 class VSkeletal Muscle+1.770.000
18H19H19, imprinted maternally expressed transcript (non-protein coding)Skeletal Muscle+1.760.000
19MYL5myosin, light chain 5, regulatorySkeletal Muscle+1.760.000
20CLIC4chloride intracellular channel 4Skeletal Muscle+1.720.000
21CHRNA1cholinergic receptor, nicotinic, alpha 1 (muscle)Skeletal Muscle+1.680.000
22NESnestinSkeletal Muscle+1.670.000
23CD44CD44 molecule (Indian blood group)Skeletal Muscle+1.660.000
24EFEMP1EGF containing fibulin-like extracellular matrix protein 1Skeletal Muscle+1.640.000
25LYZlysozymeSkeletal Muscle+1.580.000
26S100A6S100 calcium binding protein A6Skeletal Muscle+1.580.000
27C1QCcomplement component 1, q subcomponent, C chainSkeletal Muscle+1.570.000
28IGF2insulin-like growth factor 2 (somatomedin A)Skeletal Muscle+1.550.000
29RPS4Y1ribosomal protein S4, Y-linked 1Skeletal Muscle-1.530.000
30TUBB2Atubulin, beta 2A class IIaSkeletal Muscle+1.520.000
31S100A11S100 calcium binding protein A11Skeletal Muscle+1.510.000
32PPP1R3Aprotein phosphatase 1, regulatory subunit 3ASkeletal Muscle-1.510.000
33PHTF2putative homeodomain transcription factor 2Skeletal Muscle-1.500.000
34THBS4thrombospondin 4Skeletal Muscle+1.500.000
35MYBPHmyosin binding protein HSkeletal Muscle+1.490.000
36CA2carbonic anhydrase IISkeletal Muscle-1.490.000
37S100A10S100 calcium binding protein A10Skeletal Muscle+1.480.000
38TYROBPTYRO protein tyrosine kinase binding proteinSkeletal Muscle+1.480.000
39MLF1myeloid leukemia factor 1Skeletal Muscle-1.470.000
40MXRA5matrix-remodelling associated 5Skeletal Muscle+1.470.000
41TSPAN8tetraspanin 8Skeletal Muscle-1.460.000
42SRPXsushi-repeat containing protein, X-linkedSkeletal Muscle+1.460.000
43F13A1coagulation factor XIII, A1 polypeptideSkeletal Muscle+1.460.000
44VCANversicanSkeletal Muscle+1.450.000
45TUBA1Atubulin, alpha 1aSkeletal Muscle+1.450.000
46C3complement component 3Skeletal Muscle+1.440.000
47PPIBpeptidylprolyl isomerase B (cyclophilin B)Skeletal Muscle+1.420.000
48ATP9AATPase, class II, type 9ASkeletal Muscle+1.420.000
49C1Scomplement component 1, s subcomponentSkeletal Muscle+1.410.000
50IGFBP4insulin-like growth factor binding protein 4Skeletal Muscle+1.400.000
51PLTPphospholipid transfer proteinSkeletal Muscle+1.400.000
52DDNdendrinSkeletal Muscle+1.400.000
53SFRP2secreted frizzled-related protein 2Skeletal Muscle+1.390.000
54USO1USO1 vesicle transport factorSkeletal Muscle-1.390.000
55FBXO40F-box protein 40Skeletal Muscle-1.380.000
56HLA-DRAmajor histocompatibility complex, class II, DR alphaSkeletal Muscle+1.380.000
57CD14CD14 moleculeSkeletal Muscle+1.380.000
58C1QAcomplement component 1, q subcomponent, A chainSkeletal Muscle+1.370.000
59COL6A2collagen, type VI, alpha 2Skeletal Muscle+1.370.000
60MESTmesoderm specific transcriptSkeletal Muscle+1.350.000
61HINT3histidine triad nucleotide binding protein 3Skeletal Muscle-1.340.000
62CCDC80coiled-coil domain containing 80Skeletal Muscle+1.330.000
63CD163CD163 moleculeSkeletal Muscle+1.320.000
64NXPE3neurexophilin and PC-esterase domain family, member 3Skeletal Muscle-1.320.000
65HLA-DPB1major histocompatibility complex, class II, DP beta 1Skeletal Muscle+1.300.000
66MN1meningioma (disrupted in balanced translocation) 1Skeletal Muscle-1.300.000
67ANXA2annexin A2Skeletal Muscle+1.300.000
68CMYA5cardiomyopathy associated 5Skeletal Muscle-1.290.000
69FBXO3F-box protein 3Skeletal Muscle-1.280.000
70C1QBcomplement component 1, q subcomponent, B chainSkeletal Muscle+1.280.000
71MGPmatrix Gla proteinSkeletal Muscle+1.280.000
72SAMD4Asterile alpha motif domain containing 4ASkeletal Muscle-1.270.000
73SLC47A1solute carrier family 47 (multidrug and toxin extrusion), member 1Skeletal Muscle-1.270.000
74LACTB2lactamase, beta 2Skeletal Muscle-1.270.000
75ANXA1annexin A1Skeletal Muscle+1.260.000
76ZYG11Bzyg-11 family member B, cell cycle regulatorSkeletal Muscle-1.260.000
77ASS1argininosuccinate synthase 1Skeletal Muscle+1.260.000
78COL6A3collagen, type VI, alpha 3Skeletal Muscle+1.260.000
79DAB2Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)Skeletal Muscle+1.250.000
80LAPTM5lysosomal protein transmembrane 5Skeletal Muscle+1.240.000
81KIAA1109KIAA1109Skeletal Muscle-1.240.000
82COL5A2collagen, type V, alpha 2Skeletal Muscle+1.220.000
83IFI16interferon, gamma-inducible protein 16Skeletal Muscle+1.220.000
84SSPNsarcospanSkeletal Muscle-1.210.000
85ERRFI1ERBB receptor feedback inhibitor 1Skeletal Muscle+1.200.000
86MYOFmyoferlinSkeletal Muscle+1.200.000
87C1Rcomplement component 1, r subcomponentSkeletal Muscle+1.190.000
88FSTL1follistatin-like 1Skeletal Muscle+1.180.000
89KAL1Kallmann syndrome 1 sequenceSkeletal Muscle-1.180.000
90GADD45Agrowth arrest and DNA-damage-inducible, alphaSkeletal Muscle+1.180.000
91ABI3BPABI family, member 3 (NESH) binding proteinSkeletal Muscle+1.180.000
92COL4A2collagen, type IV, alpha 2Skeletal Muscle+1.180.000
93WISP2WNT1 inducible signaling pathway protein 2Skeletal Muscle+1.170.000
94COL6A1collagen, type VI, alpha 1Skeletal Muscle+1.170.000
95ALDH2aldehyde dehydrogenase 2 family (mitochondrial)Skeletal Muscle-1.170.000
96LRRC2leucine rich repeat containing 2Skeletal Muscle-1.170.000
97RSPO3R-spondin 3Skeletal Muscle-1.170.000
98TAGLNtransgelinSkeletal Muscle+1.160.000
99TNCtenascin CSkeletal Muscle+1.160.000
100ADIRFadipogenesis regulatory factorSkeletal Muscle+1.160.000
101PAFAH1B1platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)Skeletal Muscle-1.160.000
102UBE2Bubiquitin-conjugating enzyme E2BSkeletal Muscle-1.160.000
103UBE2D1ubiquitin-conjugating enzyme E2D 1Skeletal Muscle-1.160.000
104ARHGAP36Rho GTPase activating protein 36Skeletal Muscle+1.150.000
105HLA-DPA1major histocompatibility complex, class II, DP alpha 1Skeletal Muscle+1.150.000
106ICMTisoprenylcysteine carboxyl methyltransferaseSkeletal Muscle+1.150.000
107SPARCsecreted protein, acidic, cysteine-rich (osteonectin)Skeletal Muscle+1.150.000
108C11orf96chromosome 11 open reading frame 96Skeletal Muscle+1.150.000
109CSF1Rcolony stimulating factor 1 receptorSkeletal Muscle+1.150.000
110RNASE1ribonuclease, RNase A family, 1 (pancreatic)Skeletal Muscle+1.150.000
111ITGB6integrin, beta 6Skeletal Muscle-1.150.000
112CPEB3cytoplasmic polyadenylation element binding protein 3Skeletal Muscle-1.140.000
113SNX7sorting nexin 7Skeletal Muscle+1.140.000
114FBN1fibrillin 1Skeletal Muscle+1.140.000
115TECRLtrans-2,3-enoyl-CoA reductase-likeSkeletal Muscle-1.140.000
116MFN2mitofusin 2Skeletal Muscle-1.130.000
117VEGFAvascular endothelial growth factor ASkeletal Muscle-1.130.000
118ABLIM1actin binding LIM protein 1Skeletal Muscle+1.130.000
119TIMP2TIMP metallopeptidase inhibitor 2Skeletal Muscle+1.130.000
120CFHcomplement factor HSkeletal Muscle+1.130.000
121LGMNlegumainSkeletal Muscle+1.120.000
122INADLInaD-like (Drosophila)Skeletal Muscle-1.120.000
123TMSB10thymosin beta 10Skeletal Muscle+1.120.000
124COL5A1collagen, type V, alpha 1Skeletal Muscle+1.120.000
125SOCS3suppressor of cytokine signaling 3Skeletal Muscle+1.110.000
126EMP3epithelial membrane protein 3Skeletal Muscle+1.110.000
127MEGF10multiple EGF-like-domains 10Skeletal Muscle+1.110.000
128ART3ADP-ribosyltransferase 3Skeletal Muscle-1.110.000
129VWA8von Willebrand factor A domain containing 8Skeletal Muscle-1.110.000
130ENO1enolase 1, (alpha)Skeletal Muscle+1.100.000
131GPX3glutathione peroxidase 3 (plasma)Skeletal Muscle+1.100.000
132RAPH1Ras association (RalGDS/AF-6) and pleckstrin homology domains 1Skeletal Muscle+1.100.000
133SLC19A2solute carrier family 19 (thiamine transporter), member 2Skeletal Muscle-1.100.000
134HIPK3homeodomain interacting protein kinase 3Skeletal Muscle-1.090.000
135MBNL1muscleblind-like splicing regulator 1Skeletal Muscle-1.090.000
136MYL9myosin, light chain 9, regulatorySkeletal Muscle+1.080.000
137TGFBItransforming growth factor, beta-induced, 68kDaSkeletal Muscle+1.080.000
138LYVE1lymphatic vessel endothelial hyaluronan receptor 1Skeletal Muscle+1.070.000
139ATP1A1ATPase, Na+/K+ transporting, alpha 1 polypeptideSkeletal Muscle+1.070.000
140CHI3L1chitinase 3-like 1 (cartilage glycoprotein-39)Skeletal Muscle+1.070.000
141NANOS1nanos homolog 1 (Drosophila)Skeletal Muscle-1.070.000
142COL4A1collagen, type IV, alpha 1Skeletal Muscle+1.060.000
143MRC1mannose receptor, C type 1Skeletal Muscle+1.060.000
144TNNT2troponin T type 2 (cardiac)Skeletal Muscle+1.060.000
145PLNphospholambanSkeletal Muscle-1.060.000
146HLA-DRB1major histocompatibility complex, class II, DR beta 1Skeletal Muscle+1.060.000
147CYP1B1cytochrome P450, family 1, subfamily B, polypeptide 1Skeletal Muscle+1.050.000
148HBBhemoglobin, betaSkeletal Muscle-1.050.000
149CDH11cadherin 11, type 2, OB-cadherin (osteoblast)Skeletal Muscle+1.050.000
150MPEG1macrophage expressed 1Skeletal Muscle+1.050.000
151PTP4A1protein tyrosine phosphatase type IVA, member 1Skeletal Muscle-1.050.000
152LPIN1lipin 1Skeletal Muscle-1.040.000
153PCOLCEprocollagen C-endopeptidase enhancerSkeletal Muscle+1.040.000
154ASB8ankyrin repeat and SOCS box containing 8Skeletal Muscle-1.040.000
155PTGFRNprostaglandin F2 receptor inhibitorSkeletal Muscle+1.040.000
156RPL3ribosomal protein L3Skeletal Muscle+1.040.000
157GPSM2G-protein signaling modulator 2Skeletal Muscle+1.030.000
158OSMRoncostatin M receptorSkeletal Muscle+1.030.000
159NRAPnebulin-related anchoring proteinSkeletal Muscle-1.030.000
160VIMvimentinSkeletal Muscle+1.030.000
161LONRF2LON peptidase N-terminal domain and ring finger 2Skeletal Muscle-1.020.000
162UCP3uncoupling protein 3 (mitochondrial, proton carrier)Skeletal Muscle-1.020.000
163PDP1pyruvate dehyrogenase phosphatase catalytic subunit 1Skeletal Muscle-1.010.000
164WDR47WD repeat domain 47Skeletal Muscle-1.010.000
165TPRKBTP53RK binding proteinSkeletal Muscle-1.010.000
166ZBTB44zinc finger and BTB domain containing 44Skeletal Muscle-1.010.000
167CD74CD74 molecule, major histocompatibility complex, class II invariant chainSkeletal Muscle+1.010.000
168SLC25A30solute carrier family 25, member 30Skeletal Muscle-1.000.000
169ARPC1Bactin related protein 2/3 complex, subunit 1B, 41kDaSkeletal Muscle+1.000.000
170OLFML2Bolfactomedin-like 2BSkeletal Muscle+1.000.000
171RB1CC1RB1-inducible coiled-coil 1Skeletal Muscle-1.000.000
172TCEAL7transcription elongation factor A (SII)-like 7Skeletal Muscle+1.000.000
173KANK2KN motif and ankyrin repeat domains 2Skeletal Muscle+1.000.000
174ACTN1actinin, alpha 1Skeletal Muscle+1.000.000

Expression patterns in normal tissues for genes affiliated with Limb-Girdle Muscular Dystrophy, Type 2b

Search GEO for disease gene expression data for Limb-Girdle Muscular Dystrophy, Type 2b.

Pathways for genes affiliated with Limb-Girdle Muscular Dystrophy, Type 2b

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Compounds for genes affiliated with Limb-Girdle Muscular Dystrophy, Type 2b

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GO Terms for genes affiliated with Limb-Girdle Muscular Dystrophy, Type 2b

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Products for genes affiliated with Limb-Girdle Muscular Dystrophy, Type 2b

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Sources for Limb-Girdle Muscular Dystrophy, Type 2b

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet