Abnormality Of Refraction Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. (Human Phenotype Ontology, HP_0000539)
External Link https://www.disgenet.org/browser/0/1/0/C4025843
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Genes

26 genes associated with the disease Abnormality Of Refraction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
C14ORF39 chromosome 14 open reading frame 39
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CHDH choline dehydrogenase
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CNDP2 CNDP dipeptidase 2 (metallopeptidase M20 family)
CREBBP CREB binding protein
CYSLTR2 cysteinyl leukotriene receptor 2
EP300 E1A binding protein p300
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GRIA4 glutamate receptor, ionotropic, AMPA 4
KCNQ5 potassium channel, voltage gated KQT-like subfamily Q, member 5
LAMA2 laminin, alpha 2
MYO1D myosin ID
PCCA propionyl CoA carboxylase, alpha polypeptide
PTPRR protein tyrosine phosphatase, receptor type, R
RASGRF1 Ras protein-specific guanine nucleotide-releasing factor 1
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1
RDH5 retinol dehydrogenase 5 (11-cis/9-cis)
RIT1 Ras-like without CAAX 1
RORB RAR-related orphan receptor B
SF3B1 splicing factor 3b, subunit 1, 155kDa
SHISA6 shisa family member 6
TJP2 tight junction protein 2
ZMAT4 zinc finger, matrin-type 4