abnormal muscle development Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the differentiation of muscle tissue (Mammalian Phenotype Ontology, MP_0000733)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000733
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Genes

64 gene mutations causing the abnormal muscle development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACTA1 actin, alpha 1, skeletal muscle
APH1A APH1A gamma secretase subunit
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CAPN6 calpain 6
COL4A3BP collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
COL6A3 collagen, type VI, alpha 3
CREB1 cAMP responsive element binding protein 1
CXCR4 chemokine (C-X-C motif) receptor 4
DISP1 dispatched homolog 1 (Drosophila)
DLL1 delta-like 1 (Drosophila)
DLL3 delta-like 3 (Drosophila)
DMRT2 doublesex and mab-3 related transcription factor 2
DOCK1 dedicator of cytokinesis 1
DUSP1 dual specificity phosphatase 1
EP300 E1A binding protein p300
EPC1 enhancer of polycomb homolog 1 (Drosophila)
FLNC filamin C, gamma
FOXK1 forkhead box K1
FXR1 fragile X mental retardation, autosomal homolog 1
GAB1 GRB2-associated binding protein 1
IDUA iduronidase, alpha-L-
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
KMT2A lysine (K)-specific methyltransferase 2A
LATS2 large tumor suppressor kinase 2
LBX1 ladybird homeobox 1
LGALS1 lectin, galactoside-binding, soluble, 1
LMNA lamin A/C
MAPK14 mitogen-activated protein kinase 14
MECOM MDS1 and EVI1 complex locus
MEG3 maternally expressed 3 (non-protein coding)
MEOX2 mesenchyme homeobox 2
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MET MET proto-oncogene, receptor tyrosine kinase
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MSGN1 mesogenin 1
MYF5 myogenic factor 5
MYF6 myogenic factor 6 (herculin)
MYOD1 myogenic differentiation 1
MYOF myoferlin
MYOG myogenin (myogenic factor 4)
NF1 neurofibromin 1
NKX2-5 NK2 homeobox 5
PAX1 paired box 1
PAX3 paired box 3
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PITX2 paired-like homeodomain 2
PRDM1 PR domain containing 1, with ZNF domain
RBL2 retinoblastoma-like 2
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RIPPLY2 ripply transcriptional repressor 2
RTEL1 regulator of telomere elongation helicase 1
RYR1 ryanodine receptor 1 (skeletal)
SIX1 SIX homeobox 1
SOX15 SRY (sex determining region Y)-box 15
TBX1 T-box 1
TCF15 transcription factor 15 (basic helix-loop-helix)
TMEM8C transmembrane protein 8C
TMSB4X thymosin beta 4, X-linked
TRIM72 tripartite motif containing 72, E3 ubiquitin protein ligase
TRIO trio Rho guanine nucleotide exchange factor
TWIST1 twist family bHLH transcription factor 1
WDR19 WD repeat domain 19
WNT10B wingless-type MMTV integration site family, member 10B