congenital cataract Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A congenital cataract. (Human Phenotype Ontology, HP_0000519)
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43 genes associated with the congenital cataract phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AGK acylglycerol kinase
BCOR BCL6 corepressor
BFSP2 beaded filament structural protein 2, phakinin
CAV1 caveolin 1, caveolae protein, 22kDa
COL11A1 collagen, type XI, alpha 1
COL18A1 collagen, type XVIII, alpha 1
COL4A1 collagen, type IV, alpha 1
COL4A5 collagen, type IV, alpha 5
CRYAB crystallin, alpha B
CRYBA1 crystallin, beta A1
CRYBA2 crystallin, beta A2
CRYGB crystallin, gamma B
CRYGC crystallin, gamma C
CRYGD crystallin, gamma D
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
DOCK6 dedicator of cytokinesis 6
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPHA2 EPH receptor A2
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
FAM111A family with sequence similarity 111, member A
FAM126A family with sequence similarity 126, member A
FTL ferritin, light polypeptide
GJA8 gap junction protein, alpha 8, 50kDa
KCTD1 potassium channel tetramerization domain containing 1
KIF1B kinesin family member 1B
MYH9 myosin, heavy chain 9, non-muscle
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
OCRL oculocerebrorenal syndrome of Lowe
PEX11B peroxisomal biogenesis factor 11 beta
PEX7 peroxisomal biogenesis factor 7
PHGDH phosphoglycerate dehydrogenase
POMT1 protein-O-mannosyltransferase 1
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RET ret proto-oncogene
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SIL1 SIL1 nucleotide exchange factor
TBC1D20 TBC1 domain family, member 20
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
WFS1 Wolfram syndrome 1 (wolframin)