short metacarpal Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. (Human Phenotype Ontology, HP_0010049)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010049
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Genes

65 genes associated with the short metacarpal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACVR1 activin A receptor, type I
ADAMTSL2 ADAMTS-like 2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
CANT1 calcium activated nucleotidase 1
CD96 CD96 molecule
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CHSY1 chondroitin sulfate synthase 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COL9A3 collagen, type IX, alpha 3
COMP cartilage oligomeric matrix protein
DCHS1 dachsous cadherin-related 1
DDR2 discoidin domain receptor tyrosine kinase 2
DYM dymeclin
EIF4A3 eukaryotic translation initiation factor 4A3
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FGFR1 fibroblast growth factor receptor 1
FLNA filamin A, alpha
FLNB filamin B, beta
GDF5 growth differentiation factor 5
GLI3 GLI family zinc finger 3
GNAS GNAS complex locus
GNAS-AS1 GNAS antisense RNA 1
HDAC4 histone deacetylase 4
HOXA13 homeobox A13
HOXD13 homeobox D13
IFT80 intraflagellar transport 80
IHH indian hedgehog
IMPAD1 inositol monophosphatase domain containing 1
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
LBR lamin B receptor
NOG noggin
NPR2 natriuretic peptide receptor 2
P3H1 prolyl 3-hydroxylase 1
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE4D phosphodiesterase 4D, cAMP-specific
POC1A POC1 centriolar protein A
PORCN porcupine homolog (Drosophila)
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTCH1 patched 1
PTCH2 patched 2
PTHLH parathyroid hormone-like hormone
RAB33B RAB33B, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
SALL4 spalt-like transcription factor 4
SETBP1 SET binding protein 1
SHOX short stature homeobox
SIL1 SIL1 nucleotide exchange factor
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
STX16 syntaxin 16
SUFU suppressor of fused homolog (Drosophila)
TRPS1 trichorhinophalangeal syndrome I
VPS13B vacuolar protein sorting 13 homolog B (yeast)
XYLT1 xylosyltransferase I