aplasia/hypoplasia of the distal phalanges of the hand Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Absence or underdevelopment of the distal phalanges. (Human Phenotype Ontology, HP_0009835)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009835
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Genes

70 genes associated with the aplasia/hypoplasia of the distal phalanges of the hand 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
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
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