abnormality of the calf Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the calf, i.e. of the posterior part of the lower leg. (Human Phenotype Ontology, HP_0002981)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002981
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Genes

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

Symbol Name
ACAN aggrecan
ALPL alkaline phosphatase, liver/bone/kidney
AMER1 APC membrane recruitment protein 1
ARSB arylsulfatase B
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATR ATR serine/threonine kinase
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BHLHA9 basic helix-loop-helix family, member a9
BMPR1B bone morphogenetic protein receptor, type IB
BRAF B-Raf proto-oncogene, serine/threonine kinase
C12ORF57 chromosome 12 open reading frame 57
CA2 carbonic anhydrase II
CANT1 calcium activated nucleotidase 1
CBS cystathionine-beta-synthase
CHD7 chromodomain helicase DNA binding protein 7
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCN5 chloride channel, voltage-sensitive 5
CLCN7 chloride channel, voltage-sensitive 7
CLIP2 CAP-GLY domain containing linker protein 2
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COMP cartilage oligomeric matrix protein
CRTAP cartilage associated protein
CTC1 CTS telomere maintenance complex component 1
CTNS cystinosin, lysosomal cystine transporter
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
DDR2 discoidin domain receptor tyrosine kinase 2
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EIF4A3 eukaryotic translation initiation factor 4A3
ELN elastin
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
FBN1 fibrillin 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
FLNB filamin B, beta
FNBP4 formin binding protein 4
GALNS galactosamine (N-acetyl)-6-sulfatase
GDF5 growth differentiation factor 5
GLB1 galactosidase, beta 1
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GPC6 glypican 6
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HBB hemoglobin, beta
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HSPG2 heparan sulfate proteoglycan 2
HYLS1 hydrolethalus syndrome 1
IDUA iduronidase, alpha-L-
IFT122 intraflagellar transport 122
IFT172 intraflagellar transport 172
IHH indian hedgehog
IMPAD1 inositol monophosphatase domain containing 1
KIF22 kinesin family member 22
KIF7 kinesin family member 7
KRAS Kirsten rat sarcoma viral oncogene homolog
LIFR leukemia inhibitory factor receptor alpha
LIMK1 LIM domain kinase 1
LMBR1 limb development membrane protein 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MATN3 matrilin 3
MIPOL1 mirror-image polydactyly 1
MMP13 matrix metallopeptidase 13
MMP9 matrix metallopeptidase 9
MPST mercaptopyruvate sulfurtransferase
MTAP methylthioadenosine phosphorylase
NEK1 NIMA-related kinase 1
NEK8 NIMA-related kinase 8
NF1 neurofibromin 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NKX3-2 NK3 homeobox 2
NOTCH2 notch 2
NSD1 nuclear receptor binding SET domain protein 1
OCRL oculocerebrorenal syndrome of Lowe
ORC1 origin recognition complex, subunit 1
ORC6 origin recognition complex, subunit 6
P3H1 prolyl 3-hydroxylase 1
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PEPD peptidase D
PHEX phosphate regulating endopeptidase homolog, X-linked
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
POR P450 (cytochrome) oxidoreductase
RAB23 RAB23, member RAS oncogene family
RAB33B RAB33B, member RAS oncogene family
RBM8A RNA binding motif protein 8A
RFC2 replication factor C (activator 1) 2, 40kDa
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RUNX2 runt-related transcription factor 2
SCARF2 scavenger receptor class F, member 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SETBP1 SET binding protein 1
SHH sonic hedgehog
SHOX short stature homeobox
SKI SKI proto-oncogene
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SMOC1 SPARC related modular calcium binding 1
SOX9 SRY (sex determining region Y)-box 9
SULF1 sulfatase 1
TBL2 transducin (beta)-like 2
TBX15 T-box 15
TBXAS1 thromboxane A synthase 1 (platelet)
TCTN3 tectonic family member 3
TGFB1 transforming growth factor, beta 1
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WDR60 WD repeat domain 60
WISP3 WNT1 inducible signaling pathway protein 3
WNT7A wingless-type MMTV integration site family, member 7A
ZBTB16 zinc finger and BTB domain containing 16
ZBTB20 zinc finger and BTB domain containing 20