hypermetropia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000540
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Genes

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

Symbol Name
ADAMTSL4 ADAMTS-like 4
B3GAT3 beta-1,3-glucuronyltransferase 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BEST1 bestrophin 1
CDH23 cadherin-related 23
CHMP1A charged multivesicular body protein 1A
CIB2 calcium and integrin binding family member 2
CLDN16 claudin 16
CLIP2 CAP-GLY domain containing linker protein 2
CLRN1 clarin 1
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CTCF CCCTC-binding factor (zinc finger protein)
ELN elastin
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
FAM111A family with sequence similarity 111, member A
FBN1 fibrillin 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF3 fibroblast growth factor 3
FKTN fukutin
FOXL2 forkhead box L2
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GJA1 gap junction protein, alpha 1, 43kDa
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HARS histidyl-tRNA synthetase
IFT122 intraflagellar transport 122
IFT43 intraflagellar transport 43
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KDM5C lysine (K)-specific demethylase 5C
KERA keratocan
LCA5 Leber congenital amaurosis 5
LIMK1 LIM domain kinase 1
LTBP2 latent transforming growth factor beta binding protein 2
MBD5 methyl-CpG binding domain protein 5
MFRP membrane frizzled-related protein
MITF microphthalmia-associated transcription factor
MT-TS2 tRNA
MYO7A myosin VIIA
NBAS neuroblastoma amplified sequence
NDN necdin, melanoma antigen (MAGE) family member
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOG noggin
NSD1 nuclear receptor binding SET domain protein 1
PCDH15 protocadherin-related 15
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
POMT2 protein-O-mannosyltransferase 2
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
RAD50 RAD50 homolog (S. cerevisiae)
RAI1 retinoic acid induced 1
RFC2 replication factor C (activator 1) 2, 40kDa
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
SKI SKI proto-oncogene
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SMAD4 SMAD family member 4
SNRPN small nuclear ribonucleoprotein polypeptide N
SOBP sine oculis binding protein homolog (Drosophila)
SRCAP Snf2-related CREBBP activator protein
TBL2 transducin (beta)-like 2
TMEM98 transmembrane protein 98
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TULP1 tubby like protein 1
TYR tyrosinase
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35