blindness Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002001
Similar Terms
Downloads & Tools

Genes

22 gene mutations causing the blindness phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CDKN2A cyclin-dependent kinase inhibitor 2A
CISD2 CDGSH iron sulfur domain 2
CLCN3 chloride channel, voltage-sensitive 3
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CRX cone-rod homeobox
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSD cathepsin D
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
EDA ectodysplasin A
F3 coagulation factor III (thromboplastin, tissue factor)
MERTK MER proto-oncogene, tyrosine kinase
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NR2E1 nuclear receptor subfamily 2, group E, member 1
PAX6 paired box 6
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PPT1 palmitoyl-protein thioesterase 1
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SLC17A7 solute carrier family 17 (vesicular glutamate transporter), member 7
SLC4A3 solute carrier family 4 (anion exchanger), member 3
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7