abnormality of the hallux Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description This term applies for all abnormalities of the big toe, also called hallux. (Human Phenotype Ontology, HP_0001844)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001844
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Genes

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

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACVR1 activin A receptor, type I
AKT1 v-akt murine thymoma viral oncogene homolog 1
ATL3 atlastin GTPase 3
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BMP2 bone morphogenetic protein 2
BMPR1B bone morphogenetic protein receptor, type IB
CANT1 calcium activated nucleotidase 1
CLIP2 CAP-GLY domain containing linker protein 2
COL1A1 collagen, type I, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
CREBBP CREB binding protein
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
EFNB1 ephrin-B1
ELN elastin
EP300 E1A binding protein p300
FAM20C family with sequence similarity 20, member C
FGF10 fibroblast growth factor 10
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNA filamin A, alpha
GATA4 GATA binding protein 4
GDF5 growth differentiation factor 5
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HOXA13 homeobox A13
HOXD13 homeobox D13
HSPB1 heat shock 27kDa protein 1
HSPB8 heat shock 22kDa protein 8
HYLS1 hydrolethalus syndrome 1
IHH indian hedgehog
IL11RA interleukin 11 receptor, alpha
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KIF7 kinesin family member 7
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIMK1 LIM domain kinase 1
LMBR1 limb development membrane protein 1
MED12 mediator complex subunit 12
MGP matrix Gla protein
MIPOL1 mirror-image polydactyly 1
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NEK1 NIMA-related kinase 1
NELFA negative elongation factor complex member A
NOG noggin
NPR2 natriuretic peptide receptor 2
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTEN phosphatase and tensin homolog
RAB23 RAB23, member RAS oncogene family
RBBP8 retinoblastoma binding protein 8
RFC2 replication factor C (activator 1) 2, 40kDa
ROR2 receptor tyrosine kinase-like orphan receptor 2
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SATB2 SATB homeobox 2
SCARF2 scavenger receptor class F, member 2
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHH sonic hedgehog
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SMS spermine synthase
SUMF1 sulfatase modifying factor 1
TBL2 transducin (beta)-like 2
TCF12 transcription factor 12
TP63 tumor protein p63
TWIST1 twist family bHLH transcription factor 1
UBE2A ubiquitin-conjugating enzyme E2A
WHSC1 Wolf-Hirschhorn syndrome candidate 1