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Results 1 - 10 of 16 for Cataract 1
  1. CTDP1 gene 
    ... books/NBK25565/ Citation on PubMed Kalaydjieva L. Congenital cataracts-facial dysmorphism-neuropathy. Orphanet J Rare Dis. 2006 Aug 29;1:32. doi: 10.1186/1750-1172-1-32. ...
    https://medlineplus.gov/genetics/gene/ctdp1 - Genetics
  2. FAM126A gene 
    ... Minetti C, Tortori-Donati P. Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder. AJNR Am J Neuroradiol. 2008 Feb;29(2):301-5. doi: 10.3174/ajnr.A0792. Epub 2007 Nov 1. Citation on PubMed Ugur SA, Tolun A. A ...
    https://medlineplus.gov/genetics/gene/fam126a - Genetics
  3. PAX6 gene 
    ... MICROPHTHALMIA/COLOBOMA 12; MCOPCB12 ECTOPIA PUPILLAE FOVEAL HYPOPLASIA 1; FVH1 KERATITIS, HEREDITARY OPTIC NERVE HYPOPLASIA, BILATERAL CATARACT 9, MULTIPLE TYPES; CTRCT9 PAIRED BOX GENE 6; ...
    https://medlineplus.gov/genetics/gene/pax6 - Genetics
  4. CAV1 gene 
    ... lens of the eyes starting at birth (congenital cataracts). The CAV1 gene mutations that cause this condition are present in one copy of the gene in each cell. They reduce the amount of caveolin-1 that is produced within cells.Two other mutations ...
    https://medlineplus.gov/genetics/gene/cav1 - Genetics
  5. GALK1 gene 
    ... develop clouding of the lens of the eye (cataracts) but otherwise experience few of the long-term complications associated with classic galactosemia. Most of these mutations change single protein building blocks (amino acids) in galactokinase 1. A few mutations delete a small amount of ...
    https://medlineplus.gov/genetics/gene/galk1 - Genetics
  6. EYA1 gene 
    ... with eye abnormalities including clouding of the lens (cataracts) and clouding of the clear ... EYA1_HUMAN eyes absent 1 eyes absent homolog 1 (Drosophila) eyes absent, Drosophila, ...
    https://medlineplus.gov/genetics/gene/eya1 - Genetics
  7. TBC1D20 gene 
    ... DJ. Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in ... virus type 1 envelope proteins traffic toward virion assembly sites via ...
    https://medlineplus.gov/genetics/gene/tbc1d20 - Genetics
  8. FTL gene 
    ... gene have been identified in people with hyperferritinemia-cataract syndrome. Individuals affected by this disorder have an ... to clouding of the lenses of the eyes (cataracts) in infancy.The mutations that cause hyperferritinemia-cataract ...
    https://medlineplus.gov/genetics/gene/ftl - Genetics
  9. CLPB gene 
    ... and clouding of the lenses of the eyes (cataracts). In addition, affected individuals have an increased amount ... S, Rahman S. Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
  10. BEST1 gene 
    ... in the eyes (glaucoma); clouding of the lens (cataracts); and a condition called nanophthalmos, which is characterized ...
    https://medlineplus.gov/genetics/gene/best1 - Genetics
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