deeply set eye Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000490
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Genes

81 genes associated with the deeply set eye phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
ALMS1 Alstrom syndrome protein 1
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
BCR breakpoint cluster region
CDKL5 cyclin-dependent kinase-like 5
CEP57 centrosomal protein 57kDa
CHN1 chimerin 1
COL3A1 collagen, type III, alpha 1
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DNM1L dynamin 1-like
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
FBN1 fibrillin 1
FBXO31 F-box protein 31
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLII flightless I homolog (Drosophila)
FMR1 fragile X mental retardation 1
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA4 GATA binding protein 4
GJA1 gap junction protein, alpha 1, 43kDa
GRIA3 glutamate receptor, ionotropic, AMPA 3
GSC goosecoid homeobox
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HHAT hedgehog acyltransferase
HMGA2 high mobility group AT-hook 2
HYLS1 hydrolethalus syndrome 1
ISPD isoprenoid synthase domain containing
JAG1 jagged 1
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KDM5C lysine (K)-specific demethylase 5C
KIF7 kinesin family member 7
LEMD3 LEM domain containing 3
MAPK1 mitogen-activated protein kinase 1
MECP2 methyl CpG binding protein 2
MEF2C myocyte enhancer factor 2C
MEIS2 Meis homeobox 2
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NDP Norrie disease (pseudoglioma)
OCRL oculocerebrorenal syndrome of Lowe
OPHN1 oligophrenin 1
PHF6 PHD finger protein 6
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLEC plectin
POC1A POC1 centriolar protein A
POU1F1 POU class 1 homeobox 1
PRDM16 PR domain containing 16
PYCR1 pyrroline-5-carboxylate reductase 1
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAI1 retinoic acid induced 1
RARS2 arginyl-tRNA synthetase 2, mitochondrial
SEPT9 septin 9
SH3PXD2B SH3 and PX domains 2B
SHANK3 SH3 and multiple ankyrin repeat domains 3
SKI SKI proto-oncogene
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SMAD4 SMAD family member 4
SRCAP Snf2-related CREBBP activator protein
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STIM1 stromal interaction molecule 1
TAZ tafazzin
TBC1D20 TBC1 domain family, member 20
TBCE tubulin folding cofactor E
TCF4 transcription factor 4
THOC6 THO complex 6
TMEM237 transmembrane protein 237
TTI2 TELO2 interacting protein 2
UBE2A ubiquitin-conjugating enzyme E2A
UBE3A ubiquitin protein ligase E3A
ZBTB20 zinc finger and BTB domain containing 20
ZEB2 zinc finger E-box binding homeobox 2