short middle phalanx of finger Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Short (hypoplastic) middle phalanx of finger, affecting one or more fingers. (Human Phenotype Ontology, HP_0005819)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005819
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Genes

24 genes associated with the short middle phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
BMP4 bone morphogenetic protein 4
COL10A1 collagen, type X, alpha 1
COL2A1 collagen, type II, alpha 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
GATA1 GATA binding protein 1 (globin transcription factor 1)
GDF5 growth differentiation factor 5
GJA1 gap junction protein, alpha 1, 43kDa
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HOXA13 homeobox A13
HOXD13 homeobox D13
IHH indian hedgehog
KMT2A lysine (K)-specific methyltransferase 2A
MIR17HG miR-17-92 cluster host gene
PCNT pericentrin
PHF6 PHD finger protein 6
RBBP8 retinoblastoma binding protein 8
ROR2 receptor tyrosine kinase-like orphan receptor 2
RUNX2 runt-related transcription factor 2
SLC26A2 solute carrier family 26 (anion exchanger), member 2
TRPV4 transient receptor potential cation channel, subfamily V, member 4
WNT5A wingless-type MMTV integration site family, member 5A