short palm Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Short palm. (Human Phenotype Ontology, HP_0004279)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004279
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Genes

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

Symbol Name
ADAMTSL2 ADAMTS-like 2
B3GALTL beta 1,3-galactosyltransferase-like
CANT1 calcium activated nucleotidase 1
CCBE1 collagen and calcium binding EGF domains 1
CDKL5 cyclin-dependent kinase-like 5
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL9A2 collagen, type IX, alpha 2
CRLF1 cytokine receptor-like factor 1
CTNND2 catenin (cadherin-associated protein), delta 2
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FBN1 fibrillin 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGFR1 fibroblast growth factor receptor 1
FMR1 fragile X mental retardation 1
GATA1 GATA binding protein 1 (globin transcription factor 1)
GPC3 glypican 3
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
IHH indian hedgehog
INPPL1 inositol polyphosphate phosphatase-like 1
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KDM6A lysine (K)-specific demethylase 6A
KMT2D lysine (K)-specific methyltransferase 2D
LIG4 ligase IV, DNA, ATP-dependent
NDN necdin, melanoma antigen (MAGE) family member
NIPBL Nipped-B homolog (Drosophila)
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
ORC1 origin recognition complex, subunit 1
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD21 RAD21 homolog (S. pombe)
RAI1 retinoic acid induced 1
RECQL4 RecQ protein-like 4
RMRP RNA component of mitochondrial RNA processing endoribonuclease
ROR2 receptor tyrosine kinase-like orphan receptor 2
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SETBP1 SET binding protein 1
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SNIP1 Smad nuclear interacting protein 1
SNRPN small nuclear ribonucleoprotein polypeptide N
TBCE tubulin folding cofactor E
TRPS1 trichorhinophalangeal syndrome I
WDR81 WD repeat domain 81
WNT5A wingless-type MMTV integration site family, member 5A
WRN Werner syndrome, RecQ helicase-like
XYLT1 xylosyltransferase I