Cataract Gene Set

Dataset DISEASES Curated Gene-Disease Association Evidence Scores 2025
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

96 genes involed in the disease Cataract from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Symbol Name Standardized Value
GALT galactose-1-phosphate uridylyltransferase 4.0
TDRD7 tudor domain containing 7 4.0
UNC45B unc-45 homolog B (C. elegans) 4.0
LIM2 lens intrinsic membrane protein 2, 19kDa 4.0
PSMC3 proteasome (prosome, macropain) 26S subunit, ATPase, 3 4.0
WFS1 Wolfram syndrome 1 (wolframin) 4.0
SLC16A12 solute carrier family 16, member 12 4.0
MED27 mediator complex subunit 27 4.0
MVK mevalonate kinase 4.0
CRYAB crystallin, alpha B 4.0
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1 4.0
RDH11 retinol dehydrogenase 11 (all-trans/9-cis/11-cis) 4.0
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 4.0
COL2A1 collagen, type II, alpha 1 4.0
CRYAA crystallin, alpha A 4.0
HMX1 H6 family homeobox 1 4.0
BFSP2 beaded filament structural protein 2, phakinin 4.0
BFSP1 beaded filament structural protein 1, filensin 4.0
CRYGS crystallin, gamma S 4.0
CRYGB crystallin, gamma B 4.0
CRYGC crystallin, gamma C 4.0
CRYGD crystallin, gamma D 4.0
LEMD2 LEM domain containing 2 4.0
SIX6 SIX homeobox 6 4.0
GJA1 gap junction protein, alpha 1, 43kDa 4.0
MSMO1 methylsterol monooxygenase 1 4.0
DNMBP dynamin binding protein 4.0
NOP10 NOP10 ribonucleoprotein 4.0
RECQL4 RecQ protein-like 4 4.0
ABHD12 abhydrolase domain containing 12 4.0
IARS2 isoleucyl-tRNA synthetase 2, mitochondrial 4.0
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 4.0
MYH9 myosin, heavy chain 9, non-muscle 4.0
TKFC triokinase/FMN cyclase 4.0
PANK4 pantothenate kinase 4 4.0
MIP major intrinsic protein of lens fiber 4.0
GLS glutaminase 4.0
GJA3 gap junction protein, alpha 3, 46kDa 4.0
GJA8 gap junction protein, alpha 8, 50kDa 4.0
VPS4A vacuolar protein sorting 4 homolog A (S. cerevisiae) 4.0
PEX7 peroxisomal biogenesis factor 7 4.0
DMPK dystrophia myotonica-protein kinase 4.0
VSX2 visual system homeobox 2 4.0
VIM vimentin 4.0
AGK acylglycerol kinase 4.0
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog 4.0
FAR1 fatty acyl CoA reductase 1 4.0
VCAN versican 4.0
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 4.0
EPHA2 EPH receptor A2 4.0
ARL2 ADP-ribosylation factor-like 2 4.0
CRYBA2 crystallin, beta A2 4.0
CRYBA1 crystallin, beta A1 4.0
CRYBA4 crystallin, beta A4 4.0
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 4.0
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans) 4.0
GFER growth factor, augmenter of liver regeneration 4.0
FOXE3 forkhead box E3 4.0
ERCC1 excision repair cross-complementation group 1 4.0
ERCC6 excision repair cross-complementation group 6 4.0
AGPS alkylglycerone phosphate synthase 4.0
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 4.0
EBP emopamil binding protein (sterol isomerase) 4.0
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic) 4.0
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic) 4.0
SRD5A3 steroid 5 alpha-reductase 3 4.0
CHMP4B charged multivesicular body protein 4B 4.0
KCNA4 potassium channel, voltage gated shaker related subfamily A, member 4 4.0
FTL ferritin, light polypeptide 4.0
NUP188 nucleoporin 188kDa 4.0
PHYH phytanoyl-CoA 2-hydroxylase 4.0
ERCC2 excision repair cross-complementation group 2 4.0
DKC1 dyskeratosis congenita 1, dyskerin 4.0
GNPAT glyceronephosphate O-acyltransferase 4.0
ABHD5 abhydrolase domain containing 5 4.0
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 4.0
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13 4.0
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies) 4.0
TRPM3 transient receptor potential cation channel, subfamily M, member 3 4.0
LONP1 lon peptidase 1, mitochondrial 4.0
SMG8 SMG8 nonsense mediated mRNA decay factor 4.0
INPP5K inositol polyphosphate-5-phosphatase K 4.0
COPB1 coatomer protein complex, subunit beta 1 4.0
PISD phosphatidylserine decarboxylase 4.0
LSS lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 4.0
CRYBB2 crystallin, beta B2 4.0
CRYBB3 crystallin, beta B3 4.0
CRYBB1 crystallin, beta B1 4.0
FYCO1 FYVE and coiled-coil domain containing 1 4.0
OCRL oculocerebrorenal syndrome of Lowe 4.0
GALK1 galactokinase 1 4.0
CLPB ClpB homolog, mitochondrial AAA ATPase chaperonin 4.0
COL11A1 collagen, type XI, alpha 1 4.0
SIPA1L3 signal-induced proliferation-associated 1 like 3 4.0
HSF4 heat shock transcription factor 4 4.0
PITX3 paired-like homeodomain 3 4.0