short distal phalanx of finger Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. (Human Phenotype Ontology, HP_0009882)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009882
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Genes

69 genes associated with the short distal phalanx of finger 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
ARHGAP31 Rho GTPase activating protein 31
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARSE arylsulfatase E (chondrodysplasia punctata 1)
BCR breakpoint cluster region
BMP2 bone morphogenetic protein 2
BMPR1B bone morphogenetic protein receptor, type IB
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCN7 chloride channel, voltage-sensitive 7
COL10A1 collagen, type X, alpha 1
COL2A1 collagen, type II, alpha 1
COMP cartilage oligomeric matrix protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CTSK cathepsin K
DOCK6 dedicator of cytokinesis 6
EDA ectodysplasin A
EDA2R ectodysplasin A2 receptor
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FAM111A family with sequence similarity 111, member A
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNA filamin A, alpha
GDF5 growth differentiation factor 5
GGCX gamma-glutamyl carboxylase
GPC3 glypican 3
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HOXA13 homeobox A13
HOXD13 homeobox D13
IFT122 intraflagellar transport 122
IFT43 intraflagellar transport 43
IHH indian hedgehog
JAG1 jagged 1
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KDM5C lysine (K)-specific demethylase 5C
LMNA lamin A/C
MAPK1 mitogen-activated protein kinase 1
MGP matrix Gla protein
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NOG noggin
NOTCH1 notch 1
NOTCH2 notch 2
PCNT pericentrin
PHF6 PHD finger protein 6
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
POC1A POC1 centriolar protein A
PTCH1 patched 1
PTCH2 patched 2
PTHLH parathyroid hormone-like hormone
RBPJ recombination signal binding protein for immunoglobulin kappa J region
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SETBP1 SET binding protein 1
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SOX11 SRY (sex determining region Y)-box 11
STAMBP STAM binding protein
SUFU suppressor of fused homolog (Drosophila)
TBC1D24 TBC1 domain family, member 24
TBX3 T-box 3
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WNT7A wingless-type MMTV integration site family, member 7A
ZBTB20 zinc finger and BTB domain containing 20
ZMPSTE24 zinc metallopeptidase STE24