Human | GTF2H5 | 404672 | general transcription factor IIH, polypeptide 5 | |
Human | TMEM114 | 283953 | transmembrane protein 114 | TMEM114 has a role in mammalian cataract formation |
Human | ESCO2 | 157570 | establishment of sister chromatid cohesion N-acetyltransferase 2 | |
Human | ADAMTS10 | 81794 | ADAM metallopeptidase with thrombospondin type 1 motif, 10 | |
Human | OPA3 | 80207 | optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) | Allelic disorder to autosomal dominant optic atrophy and cataract ({165300}) two missense mutations in OPA3 in two families affected by autosomal dominant optic atrophy and cataract (ADOAC) |
Human | FKRP | 79147 | fukutin related protein | |
Human | CNGB3 | 54714 | cyclic nucleotide gated channel beta 3 | |
Human | POMT2 | 29954 | protein-O-mannosyltransferase 2 | |
Human | AIPL1 | 23746 | aryl hydrocarbon receptor interacting protein-like 1 | The phenotype of LCA (Leber congenital amaurosis) in patients with AIPL1 mutations is relatively severe, with a maculopathy in most patients and keratoconus and cataract in a large subset |
Human | GJB6 | 10804 | gap junction protein, beta 6, 30kDa | |
Human | POMT1 | 10585 | protein-O-mannosyltransferase 1 | |
Human | PQBP1 | 10084 | polyglutamine binding protein 1 | |
Human | NR2E3 | 10002 | nuclear receptor subfamily 2, group E, member 3 | |
Human | LARGE | 9215 | like-glycosyltransferase | |
Human | SLC4A4 | 8671 | solute carrier family 4 (sodium bicarbonate cotransporter), member 4 | |
Human | IKBKG | 8517 | inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma | |
Human | GNPAT | 8443 | glyceronephosphate O-acyltransferase | |
Human | BFSP2 | 8419 | beaded filament structural protein 2, phakinin | Cataract, adult-onset (punctate cortical) Cataract, congenital (nuclear, sutural, or stellate cortical) Cataract, progressive, juvenile-onset (lamellar, cortical, nuclear embryonic, or Y-sutural) Progressive phenotype has provided more evidence for the heterogeneity of congenital cataract caused by BFSP2 mutations and for the important role BFSP2 plays in cataract formation |
Human | YWHAE | 7531 | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide | |
Human | WNT3 | 7473 | wingless-type MMTV integration site family, member 3 | |
Human | TGFBI | 7045 | transforming growth factor, beta-induced, 68kDa | |
Human | TFAP2A | 7020 | transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) | |
Human | SC5DL | 6309 | | |
Human | RPE65 | 6121 | retinal pigment epithelium-specific protein 65kDa | |
Human | PTEN | 5728 | phosphatase and tensin homolog | |