cataract Gene Set

Dataset DISEASES Curated Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed) (Experimental Factor Ontology, EFO_0001059)
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Genes

65 genes involed in the disease cataract from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ABHD12 abhydrolase domain containing 12
ABHD5 abhydrolase domain containing 5
AGK acylglycerol kinase
AGPS alkylglycerone phosphate synthase
BFSP1 beaded filament structural protein 1, filensin
BFSP2 beaded filament structural protein 2, phakinin
CHMP4B charged multivesicular body protein 4B
COL11A1 collagen, type XI, alpha 1
COL2A1 collagen, type II, alpha 1
CRYAA crystallin, alpha A
CRYAB crystallin, alpha B
CRYBA1 crystallin, beta A1
CRYBA2 crystallin, beta A2
CRYBA4 crystallin, beta A4
CRYBB1 crystallin, beta B1
CRYBB2 crystallin, beta B2
CRYBB3 crystallin, beta B3
CRYGB crystallin, gamma B
CRYGC crystallin, gamma C
CRYGD crystallin, gamma D
CRYGS crystallin, gamma S
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DMPK dystrophia myotonica-protein kinase
EBP emopamil binding protein (sterol isomerase)
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPHA2 EPH receptor A2
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC6 excision repair cross-complementation group 6
FAM126A family with sequence similarity 126, member A
FTL ferritin, light polypeptide
FYCO1 FYVE and coiled-coil domain containing 1
GALK1 galactokinase 1
GALT galactose-1-phosphate uridylyltransferase
GFER growth factor, augmenter of liver regeneration
GJA1 gap junction protein, alpha 1, 43kDa
GJA3 gap junction protein, alpha 3, 46kDa
GJA8 gap junction protein, alpha 8, 50kDa
GNPAT glyceronephosphate O-acyltransferase
HMX1 H6 family homeobox 1
HSF4 heat shock transcription factor 4
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
LIM2 lens intrinsic membrane protein 2, 19kDa
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MIP major intrinsic protein of lens fiber
MVK mevalonate kinase
MYH9 myosin, heavy chain 9, non-muscle
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
OCRL oculocerebrorenal syndrome of Lowe
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
PEX7 peroxisomal biogenesis factor 7
PHYH phytanoyl-CoA 2-hydroxylase
PITX3 paired-like homeodomain 3
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RECQL4 RecQ protein-like 4
SIX6 SIX homeobox 6
SLC16A12 solute carrier family 16, member 12
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SRD5A3 steroid 5 alpha-reductase 3
TDRD7 tudor domain containing 7
VCAN versican
VIM vimentin
VSX2 visual system homeobox 2
WFS1 Wolfram syndrome 1 (wolframin)