abnormality of the abdominal musculature Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the abdominal musculature. (Human Phenotype Ontology, HP_0010991)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010991
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Genes

66 genes associated with the abnormality of the abdominal musculature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ACTG2 actin, gamma 2, smooth muscle, enteric
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BRAF B-Raf proto-oncogene, serine/threonine kinase
CANT1 calcium activated nucleotidase 1
CD96 CD96 molecule
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CHRM3 cholinergic receptor, muscarinic 3
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
COL3A1 collagen, type III, alpha 1
COLEC11 collectin sub-family member 11
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DUOX2 dual oxidase 2
DUOXA2 dual oxidase maturation factor 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FBN1 fibrillin 1
FLNB filamin B, beta
FOXE1 forkhead box E1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPC3 glypican 3
GPC4 glypican 4
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HESX1 HESX homeobox 1
INSR insulin receptor
IYD iodotyrosine deiodinase
KAT6B K(lysine) acetyltransferase 6B
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KRAS Kirsten rat sarcoma viral oncogene homolog
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
MANBA mannosidase, beta A, lysosomal
MAP2K2 mitogen-activated protein kinase kinase 2
MCOLN1 mucolipin 1
NF1 neurofibromin 1
NKX2-1 NK2 homeobox 1
NKX2-5 NK2 homeobox 5
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
PAX8 paired box 8
PORCN porcupine homolog (Drosophila)
POU1F1 POU class 1 homeobox 1
PROP1 PROP paired-like homeobox 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RIT1 Ras-like without CAAX 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
SKI SKI proto-oncogene
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5
SNAP29 synaptosomal-associated protein, 29kDa
SOS1 son of sevenless homolog 1 (Drosophila)
TG thyroglobulin
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TNXB tenascin XB
TPO thyroid peroxidase
TRHR thyrotropin-releasing hormone receptor
TSHB thyroid stimulating hormone, beta
TSHR thyroid stimulating hormone receptor
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
XYLT1 xylosyltransferase I