abnormality of the ankles Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003028
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Genes

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

Symbol Name
ADGRG1 adhesion G protein-coupled receptor G1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
C19ORF12 chromosome 19 open reading frame 12
CHMP1A charged multivesicular body protein 1A
CLCN5 chloride channel, voltage-sensitive 5
CLIP2 CAP-GLY domain containing linker protein 2
COL10A1 collagen, type X, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
ELN elastin
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FA2H fatty acid 2-hydroxylase
FAM134B family with sequence similarity 134, member B
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNA filamin A, alpha
GBA2 glucosidase, beta (bile acid) 2
GDF5 growth differentiation factor 5
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HDAC6 histone deacetylase 6
KIF1A kinesin family member 1A
KIF5A kinesin family member 5A
LIFR leukemia inhibitory factor receptor alpha
LIMK1 LIM domain kinase 1
LMNA lamin A/C
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MMP2 matrix metallopeptidase 2
NOG noggin
RAB18 RAB18, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
REEP1 receptor accessory protein 1
RFC2 replication factor C (activator 1) 2, 40kDa
RTN2 reticulon 2
SCN9A sodium channel, voltage gated, type IX alpha subunit
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG20 spastic paraplegia 20 (Troyer syndrome)
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
SULF1 sulfatase 1
TBL2 transducin (beta)-like 2
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WNK1 WNK lysine deficient protein kinase 1
ZFYVE27 zinc finger, FYVE domain containing 27
ZNF592 zinc finger protein 592