aplasia/hypoplasia of the phalanges of the hand Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Small or missing phalangeal bones of the fingers of the hand. (Human Phenotype Ontology, HP_0009767)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009767
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Genes

142 genes associated with the aplasia/hypoplasia of the 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
ACAN aggrecan
ACVR1 activin A receptor, type I
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
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)
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
BCR breakpoint cluster region
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BMPR1B bone morphogenetic protein receptor, type IB
CANT1 calcium activated nucleotidase 1
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCN7 chloride channel, voltage-sensitive 7
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COMP cartilage oligomeric matrix protein
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CTSK cathepsin K
DDR2 discoidin domain receptor tyrosine kinase 2
DOCK6 dedicator of cytokinesis 6
DPYS dihydropyrimidinase
DYM dymeclin
EDA ectodysplasin A
EDA2R ectodysplasin A2 receptor
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EIF4A3 eukaryotic translation initiation factor 4A3
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EP300 E1A binding protein p300
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM111A family with sequence similarity 111, member A
FBN1 fibrillin 1
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
FLNB filamin B, beta
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
G6PC3 glucose 6 phosphatase, catalytic, 3
GATA1 GATA binding protein 1 (globin transcription factor 1)
GDF5 growth differentiation factor 5
GGCX gamma-glutamyl carboxylase
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
GPC3 glypican 3
GRIP1 glutamate receptor interacting protein 1
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HDAC4 histone deacetylase 4
HOXA13 homeobox A13
HOXD13 homeobox D13
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT43 intraflagellar transport 43
IHH indian hedgehog
IL11RA interleukin 11 receptor, alpha
JAG1 jagged 1
KAT6B K(lysine) acetyltransferase 6B
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KDM5C lysine (K)-specific demethylase 5C
KIF22 kinesin family member 22
KMT2A lysine (K)-specific methyltransferase 2A
LBR lamin B receptor
LIFR leukemia inhibitory factor receptor alpha
LMBR1 limb development membrane protein 1
LMNA lamin A/C
MAPK1 mitogen-activated protein kinase 1
MED12 mediator complex subunit 12
MEGF8 multiple EGF-like-domains 8
MGP matrix Gla protein
MIR17HG miR-17-92 cluster host gene
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NOG noggin
NOTCH1 notch 1
NOTCH2 notch 2
NPR2 natriuretic peptide receptor 2
PCNT pericentrin
PDE4D phosphodiesterase 4D, cAMP-specific
PHF6 PHD finger protein 6
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
POC1A POC1 centriolar protein A
PORCN porcupine homolog (Drosophila)
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTCH1 patched 1
PTCH2 patched 2
PTDSS1 phosphatidylserine synthase 1
PTHLH parathyroid hormone-like hormone
RAB23 RAB23, member RAS oncogene family
RAB33B RAB33B, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RBBP8 retinoblastoma binding protein 8
RBM8A RNA binding motif protein 8A
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RECQL4 RecQ protein-like 4
RIPK4 receptor-interacting serine-threonine kinase 4
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SETBP1 SET binding protein 1
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
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
SNIP1 Smad nuclear interacting protein 1
SOX11 SRY (sex determining region Y)-box 11
SOX9 SRY (sex determining region Y)-box 9
STAMBP STAM binding protein
SUFU suppressor of fused homolog (Drosophila)
SUMF1 sulfatase modifying factor 1
TBC1D24 TBC1 domain family, member 24
TBX3 T-box 3
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TP63 tumor protein p63
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
USP9X ubiquitin specific peptidase 9, X-linked
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
XYLT1 xylosyltransferase I
ZBTB20 zinc finger and BTB domain containing 20
ZMPSTE24 zinc metallopeptidase STE24