congenital muscular dystrophy Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A muscular dystrophy that is an autosomal recessive disorder present at birth, which may result in contractures, scoliosis, respiratory and swallowing difficulties, and foot deformities. (Human Disease Ontology, DOID_0050557)
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Genes

135 genes co-occuring with the disease congenital muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
LAMA2 laminin, alpha 2 3.35903
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1) 2.93936
FKTN fukutin 2.77573
POMT1 protein-O-mannosyltransferase 1 2.58726
FKRP fukutin related protein 2.52982
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 2.49271
COL6A2 collagen, type VI, alpha 2 2.43099
COL6A3 collagen, type VI, alpha 3 2.3959
POMT2 protein-O-mannosyltransferase 2 2.33652
COL6A1 collagen, type VI, alpha 1 2.26534
MGAT4C MGAT4 family, member C 2.0047
DMD dystrophin 1.82911
LAMB2 laminin, beta 2 (laminin S) 1.5818
SEPN1 selenoprotein N, 1 1.54451
ITGA7 integrin, alpha 7 1.43639
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 1.43639
LARGE like-glycosyltransferase 1.37469
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3 1.37425
ISPD isoprenoid synthase domain containing 1.33152
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 1.32148
GYLTL1B glycosyltransferase-like 1B 1.29178
LMNA lamin A/C 1.22432
MGAT5 mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 1.22042
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase 1.17765
TMEM5 transmembrane protein 5 1.12151
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit 1.10678
POMK protein-O-mannose kinase 1.10678
DYSF dysferlin 1.09461
ANO5 anoctamin 5 1.08579
B3GNT1 1.05051
COL6A6 collagen, type VI, alpha 6 1.04672
GMPPB GDP-mannose pyrophosphorylase B 1.04672
CAPN3 calpain 3, (p94) 1.00203
COL6A5 collagen, type VI, alpha 5 0.98011
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) 0.978848
B3GALNT1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) 0.957033
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase 0.924213
CHKA choline kinase alpha 0.898282
SSPN sarcospan 0.888848
LAMA4 laminin, alpha 4 0.842573
LAMA1 laminin, alpha 1 0.842163
SMG8 SMG8 nonsense mediated mRNA decay factor 0.839296
CHST10 carbohydrate sulfotransferase 10 0.831508
UPF1 UPF1 regulator of nonsense transcripts homolog (yeast) 0.822488
C1QBP complement component 1, q subcomponent binding protein 0.811821
CAV3 caveolin 3 0.805257
UTRN utrophin 0.776159
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) 0.774523
SYNM synemin, intermediate filament protein 0.761862
PPIF peptidylprolyl isomerase F 0.757378
MSTN myostatin 0.754934
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 0.731381
MGAT1 mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 0.728143
LAMA5 laminin, alpha 5 0.72127
EGFLAM EGF-like, fibronectin type III and laminin G domains 0.709975
MGAT5B mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 0.681894
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit 0.656837
EMD emerin 0.648928
FKBP14 FK506 binding protein 14, 22 kDa 0.633563
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 0.59913
ADAM28 ADAM metallopeptidase domain 28 0.59874
CHKB choline kinase beta 0.596012
DOK7 docking protein 7 0.583552
SNTB2 syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) 0.581606
BGN biglycan 0.574605
MYOG myogenin (myogenic factor 4) 0.563335
CSPG4 chondroitin sulfate proteoglycan 4 0.562946
HFM1 HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 0.560616
PARVB parvin, beta 0.544318
NID1 nidogen 1 0.538118
MYOD1 myogenic differentiation 1 0.511496
COL12A1 collagen, type XII, alpha 1 0.508808
NUDT9 nudix (nucleoside diphosphate linked moiety X)-type motif 9 0.505739
CIB2 calcium and integrin binding family member 2 0.505739
GLDN gliomedin 0.494266
SLC39A2 solute carrier family 39 (zinc transporter), member 2 0.486266
COL4A1 collagen, type IV, alpha 1 0.43753
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 0.432646
PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 0.416521
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic 0.406051
WWP1 WW domain containing E3 ubiquitin protein ligase 1 0.405678
AGK acylglycerol kinase 0.378143
ACTN2 actinin, alpha 2 0.357077
MEF2C myocyte enhancer factor 2C 0.349717
SRRM2 serine/arginine repetitive matrix 2 0.325916
GLE1 GLE1 RNA export mediator 0.319726
FA2H fatty acid 2-hydroxylase 0.309204
RYR1 ryanodine receptor 1 (skeletal) 0.306672
GLG1 golgi glycoprotein 1 0.30631
ADGRG1 adhesion G protein-coupled receptor G1 0.30342
NOTO notochord homeobox 0.302337
PFKL phosphofructokinase, liver 0.298011
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 0.291539
FN1 fibronectin 1 0.290103
EMX2 empty spiracles homeobox 2 0.286877
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 0.284371
MYF6 myogenic factor 6 (herculin) 0.282582
RICTOR RPTOR independent companion of MTOR, complex 2 0.275801
DNM2 dynamin 2 0.272597
PRX periaxin 0.271174
CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3 0.256652
PAX7 paired box 7 0.25207
ACHE acetylcholinesterase (Yt blood group) 0.241895
MPI mannose phosphate isomerase 0.23945
MIR133B microRNA 133b 0.216672
NCAN neurocan 0.203275
CHRNE cholinergic receptor, nicotinic, epsilon (muscle) 0.200006
LPIN1 lipin 1 0.198386
LGALS7 lectin, galactoside-binding, soluble, 7 0.195183
PLEC plectin 0.191097
SIAH1 siah E3 ubiquitin protein ligase 1 0.176757
RAPSN receptor-associated protein of the synapse 0.167682
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1 0.164786
SGCE sarcoglycan, epsilon 0.163938
ALDH3A2 aldehyde dehydrogenase 3 family, member A2 0.15948
BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3 0.142695
BECN1 beclin 1, autophagy related 0.136019
MYF5 myogenic factor 5 0.135385
MIR31 microRNA 31 0.134591
FBXO32 F-box protein 32 0.131312
VWF von Willebrand factor 0.130866
MYH7 myosin, heavy chain 7, cardiac muscle, beta 0.130803
RELN reelin 0.128195
PMM2 phosphomannomutase 2 0.12755
FOXG1 forkhead box G1 0.12541
HTRA1 HtrA serine peptidase 1 0.125216
TGFBR1 transforming growth factor, beta receptor 1 0.122889
DCX doublecortin 0.122552
CRYAB crystallin, alpha B 0.122552
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 0.120784
FBN1 fibrillin 1 0.118981
GIF gastric intrinsic factor (vitamin B synthesis) 0.117643
FLNA filamin A, alpha 0.111597
COL1A1 collagen, type I, alpha 1 0.110728
SMN2 survival of motor neuron 2, centromeric 0.109502