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Eye
Research
Network
&LensNet LensGDDB Kenneth P. Mitton, Ph.D., Editor Eye Research
Institute - Oakland University
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Note that the "OMIM Dbase Link" is provided for your convenient direct access into the pertinent OMIM database file for each disease locus. The OMIM information provides literature references to Medline catalogued papers and chapters for the biology/disease and linkage/mapping history.
I have just programmed the Chromosome "Position" to link with the OMIM GeneMap to retrieve the genes and diseases databased at or near the map location. (3/5/2000)
| Locus (phenotype) | Chromosome | Position | Mendelian Type | Morphology | Gene | Number of Families | OMIM Dbase Link | Comments |
| CAE1(CZP1, Duffy linked) | 1 | 1q21-q25 | AD | zonular pulverulent | connexin50 (GJA8) | 2 | 116200 | |
| CCV (Volkmann) | 1 | 1pter-p36.13 | AD | variable (progressive central and zonular with sutural component) | 1 | 115665 | ||
| CACA | 2 | 2q33-q35 | AD | crystalline, needles | 3 | 115700 | linkage to gamma-crystallin gene cluster | |
| CCL (Coppock like) | 2 | 2q33-q35 | Nuclear lamellar (Coppock-like), aculeiform, variable nuclear | gammaE-crystallin | 3 | 123660 | ||
| nulcear, perinuclear | 2 | 2q33-q35 | AD | nuclear, perinuclear punctate opacities | gammaD-crystallin (R14C) | 1 | new | Stephan et al., Proc. Natl. Acad. Sci. USA 96:1008?1012 (1999) |
| CCP (polymorphic congentital) | 2 | 2q33-q35 | AD | polymorphic non-nuclear | 601286 | linkage to gamma-crystallin gene cluster | ||
| CZP3 (zonular pulverulent) | 13 | 13q11-q12 | AD | zonular pulverulent, punctate cataract | connexin-46 (CJA3) | 2 | 601885 | |
| CTAA1(anterior polar) | 14 | 14q24-qter | anterior polar cataracts | 115650 | ||||
| CAM (Marner, CTM) | 16 | 16q22 | variable (progressive central and zonular nuclear, anterior polar, or stellate) | 2 | 116800 | |||
| CCA1 (cerulean-blue dot) | 17 | 17q24 | cerulean (nuclear and cortical) | 1 | 115660 | |||
| CCZS-LSB (zonular sutural) | 17 | 17q11-q12 | variable nuclear lamelar with sutural component | near betaA3-crystallin | 1 | 600881 | ||
| CTAA2 (anterior polar) | 17 | 17p13 | anterior polar | 1 | 601202 | |||
| Hyperferritinemia Cataract Syndrome | 19 | 19q13.3-q13.4 | AD | 3 | 600886 | 1 family has mutation in 5prime noncoding region of ferritin light chain gene | ||
| ADCC-2 | 21 | 21q22.3 | zonular central nuclear opacities | alphaA-crystallin (CRYAA) R116C | 1 | 123580 | ||
| CCA2 (cerulean-blue dot) | 22 | 22q | cerulean | betaB2-crystallin | 1 | 601547 |
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