difficulty walking Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Reduced ability to walk (ambulate). (Human Phenotype Ontology, HP_0002355)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002355
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Genes

34 genes associated with the difficulty walking phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
C12ORF65 chromosome 12 open reading frame 65
CAPN3 calpain 3, (p94)
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
DDHD1 DDHD domain containing 1
FA2H fatty acid 2-hydroxylase
FBXO38 F-box protein 38
FKRP fukutin related protein
GJB1 gap junction protein, beta 1, 32kDa
GOSR2 golgi SNAP receptor complex member 2
HK1 hexokinase 1
HSPB1 heat shock 27kDa protein 1
HSPB3 heat shock 27kDa protein 3
LMNA lamin A/C
NKX2-1 NK2 homeobox 1
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PNPLA2 patatin-like phospholipase domain containing 2
POMT1 protein-O-mannosyltransferase 1
PRX periaxin
SBF2 SET binding factor 2
SETX senataxin
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SPG20 spastic paraplegia 20 (Troyer syndrome)
TCAP titin-cap
TGM6 transglutaminase 6
TPM2 tropomyosin 2 (beta)
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WISP3 WNT1 inducible signaling pathway protein 3