hypotelorism Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). (Human Phenotype Ontology, HP_0000601)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000601
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Genes

37 genes associated with the hypotelorism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
CDON cell adhesion associated, oncogene regulated
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EVC Ellis van Creveld protein
FAM111A family with sequence similarity 111, member A
FGFR1 fibroblast growth factor receptor 1
FREM1 FRAS1 related extracellular matrix 1
GATA2 GATA binding protein 2
GJA1 gap junction protein, alpha 1, 43kDa
GLI2 GLI family zinc finger 2
GSC goosecoid homeobox
IFT122 intraflagellar transport 122
IFT43 intraflagellar transport 43
KANSL1 KAT8 regulatory NSL complex subunit 1
KCTD1 potassium channel tetramerization domain containing 1
MKS1 Meckel syndrome, type 1
NDP Norrie disease (pseudoglioma)
NIN ninein (GSK3B interacting protein)
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OPHN1 oligophrenin 1
PROKR2 prokineticin receptor 2
PTCH1 patched 1
PYCR1 pyrroline-5-carboxylate reductase 1
QARS glutaminyl-tRNA synthetase
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RECQL4 RecQ protein-like 4
SEPT9 septin 9
SHH sonic hedgehog
SIX3 SIX homeobox 3
STIM1 stromal interaction molecule 1
TGIF1 TGFB-induced factor homeobox 1
TRAPPC9 trafficking protein particle complex 9
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
ZIC2 Zic family member 2