abnormal metacarpal morphology Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Irregularly shaped metacarpal bones of varying degree. (Human Phenotype Ontology, HP_0005916)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005916
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Genes

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

Symbol Name
ACVR1 activin A receptor, type I
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTSL2 ADAMTS-like 2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
BMPR1B bone morphogenetic protein receptor, type IB
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
GALNS galactosamine (N-acetyl)-6-sulfatase
GDF5 growth differentiation factor 5
GLB1 galactosidase, beta 1
GLI3 GLI family zinc finger 3
GNAS GNAS complex locus
GNAS-AS1 GNAS antisense RNA 1
GUSB glucuronidase, beta
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
LMBR1 limb development membrane protein 1
LRP5 low density lipoprotein receptor-related protein 5
MMP2 matrix metallopeptidase 2
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
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)
PRG4 proteoglycan 4
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)
RECQL4 RecQ protein-like 4
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
SALL4 spalt-like transcription factor 4
SCARF2 scavenger receptor class F, member 2
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)
TP63 tumor protein p63
TRPS1 trichorhinophalangeal syndrome I
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WNT7A wingless-type MMTV integration site family, member 7A
XYLT1 xylosyltransferase I