Congenital Cataract Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A congenital cataract. (Human Phenotype Ontology, HP_0000519)
External Link https://www.disgenet.org/browser/0/1/0/C0009691
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Genes

97 genes associated with the disease Congenital Cataract in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACP1 acid phosphatase 1, soluble
AGK acylglycerol kinase
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ARID1B AT rich interactive domain 1B (SWI1-like)
ATF4 activating transcription factor 4
BANF1 barrier to autointegration factor 1
BCOR BCL6 corepressor
BFSP1 beaded filament structural protein 1, filensin
BFSP2 beaded filament structural protein 2, phakinin
BMP4 bone morphogenetic protein 4
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CLRN1 clarin 1
COL4A1 collagen, type IV, alpha 1
COL4A5 collagen, type IV, alpha 5
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
CRYGA crystallin, gamma A
CRYGB crystallin, gamma B
CRYGC crystallin, gamma C
CRYGD crystallin, gamma D
CRYGS crystallin, gamma S
CRYL1 crystallin, lambda 1
CRYZ crystallin, zeta (quinone reductase)
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DMD dystrophin
EPHA2 EPH receptor A2
ERN1 endoplasmic reticulum to nucleus signaling 1
EYA1 EYA transcriptional coactivator and phosphatase 1
FOXE3 forkhead box E3
FRMD7 FERM domain containing 7
FYCO1 FYVE and coiled-coil domain containing 1
GALK1 galactokinase 1
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
GEMIN4 gem (nuclear organelle) associated protein 4
GJA3 gap junction protein, alpha 3, 46kDa
GJA8 gap junction protein, alpha 8, 50kDa
GJB2 gap junction protein, beta 2, 26kDa
GPC5 glypican 5
HP haptoglobin
HSF4 heat shock transcription factor 4
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
IL2RG interleukin 2 receptor, gamma
IL3 interleukin 3
INPP5K inositol polyphosphate-5-phosphatase K
JAM3 junctional adhesion molecule 3
LIM2 lens intrinsic membrane protein 2, 19kDa
LOC102724652 alpha-crystallin A chain
LSS lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MEIS2 Meis homeobox 2
MFAP2 microfibrillar-associated protein 2
MFN2 mitofusin 2
MIP major intrinsic protein of lens fiber
MIPEP mitochondrial intermediate peptidase
MYH9 myosin, heavy chain 9, non-muscle
NECTIN3 nectin cell adhesion molecule 3
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
OCRL oculocerebrorenal syndrome of Lowe
OPA1 optic atrophy 1 (autosomal dominant)
PAX6 paired box 6
PEX11B peroxisomal biogenesis factor 11 beta
PEX5 peroxisomal biogenesis factor 5
PHF6 PHD finger protein 6
PITX3 paired-like homeodomain 3
PRG4 proteoglycan 4
PRX periaxin
PSMC3 proteasome (prosome, macropain) 26S subunit, ATPase, 3
PTEN phosphatase and tensin homolog
PXDN peroxidasin
PYURF PIGY upstream reading frame
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RGS6 regulator of G-protein signaling 6
SIPA1L3 signal-induced proliferation-associated 1 like 3
SIX6 SIX homeobox 6
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SORD sorbitol dehydrogenase
SPRY2 sprouty homolog 2 (Drosophila)
STX3 syntaxin 3
TDRD7 tudor domain containing 7
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TMEM114 transmembrane protein 114
TMEM70 transmembrane protein 70
TUBA1A tubulin, alpha 1a
TUBB tubulin, beta class I
VEGFA vascular endothelial growth factor A
VIM vimentin
ZRANB3 zinc finger, RAN-binding domain containing 3