abnormal hand morphology Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any structural anomaly of the hand. (Human Phenotype Ontology, HP_0005922)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005922
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Genes

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

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACAN aggrecan
ACVR1 activin A receptor, type I
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
ALOX12B arachidonate 12-lipoxygenase, 12R type
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)
ASNS asparagine synthetase (glutamine-hydrolyzing)
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
BCR breakpoint cluster region
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BMPR1B bone morphogenetic protein receptor, type IB
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CANT1 calcium activated nucleotidase 1
CAV1 caveolin 1, caveolae protein, 22kDa
CHD7 chromodomain helicase DNA binding protein 7
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCN7 chloride channel, voltage-sensitive 7
CNTN1 contactin 1
COL10A1 collagen, type X, alpha 1
COL2A1 collagen, type II, alpha 1
COL7A1 collagen, type VII, alpha 1
COMP cartilage oligomeric matrix protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CTSK cathepsin K
CUL7 cullin 7
DHCR7 7-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
DOCK6 dedicator of cytokinesis 6
DSP desmoplakin
DST dystonin
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
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
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
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
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
FOS FBJ murine osteosarcoma viral oncogene homolog
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
GNAS GNAS complex locus
GPC3 glypican 3
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HESX1 HESX homeobox 1
HOXA13 homeobox A13
HOXD13 homeobox D13
IFT122 intraflagellar transport 122
IFT43 intraflagellar transport 43
IHH indian hedgehog
INSR insulin receptor
IRX5 iroquois homeobox 5
JAG1 jagged 1
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KDM5C lysine (K)-specific demethylase 5C
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KMT2A lysine (K)-specific methyltransferase 2A
KMT2D lysine (K)-specific methyltransferase 2D
LMNA lamin A/C
LRP4 low density lipoprotein receptor-related protein 4
MAPK1 mitogen-activated protein kinase 1
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MGP matrix Gla protein
MIR17HG miR-17-92 cluster host gene
MOGS mannosyl-oligosaccharide glucosidase
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NOG noggin
NOTCH1 notch 1
NOTCH2 notch 2
NSD1 nuclear receptor binding SET domain protein 1
OFD1 oral-facial-digital syndrome 1
PALB2 partner and localizer of BRCA2
PCNT pericentrin
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PHF6 PHD finger protein 6
PHF8 PHD finger protein 8
PHGDH phosphoglycerate dehydrogenase
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
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
PSAT1 phosphoserine aminotransferase 1
PTCH1 patched 1
PTCH2 patched 2
PTF1A pancreas specific transcription factor, 1a
PTHLH parathyroid hormone-like hormone
PUF60 poly-U binding splicing factor 60KDa
RAD51C RAD51 paralog C
RBBP8 retinoblastoma binding protein 8
RBPJ recombination signal binding protein for immunoglobulin kappa J region
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
RPS19 ribosomal protein S19
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
SALL4 spalt-like transcription factor 4
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETBP1 SET binding protein 1
SHANK3 SH3 and multiple ankyrin repeat domains 3
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
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
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TPM2 tropomyosin 2 (beta)
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
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
ZBTB20 zinc finger and BTB domain containing 20
ZDHHC15 zinc finger, DHHC-type containing 15
ZMPSTE24 zinc metallopeptidase STE24