Table 4 of
Jiang, Mol Vis 2005;
11:143-151.Table 4 of
Jiang, Mol Vis 2005;
11:143-151.
Table 4. Genetic loci associated with progressive cone dystrophies
The table lists the inheritance mode (AR represents autosomal recessive; AD represents autosomal dominant; XR represents X-linked recessive), the chromosomal localization ("Locus"), the disease nomenclature from RetNet, the Online Mendelian Inheritance in Man (OMIM) accession number, a gene symbol, and a reference.
Inheritance Locus Symbol OMIM Gene Reference
----------- ------------- ------ ------ ------ ---------
AR 1p13.3 139340 GNAT2 [33]
AR 1p22.1 CORD3 604116 ABCA4 [34]
AR 1q12-q24 CORD8 605549 [35]
AR 2q11.2 600053 CNGA3 [36]
AD 6p21.1 COD3 602093 GUCA1A [19]
AD 6q13 CORD7 603649 RIMS1 [37]
AD 6q25-26 180020 RCD1 [38]
AR 8q21.3 605080 CNGB3 [39]
AR 12q13.3 601617 RDH5 [40]
AD 17p13.1 CORD6 601777 GUCY2D [41]
18q21.1-q21.3 CORD1 600624 [42]
AD 19q13.3 CORD2 120970 CRX [43]
XR Xp11.4 CORDX1 304020 RPGR [25]
XR Xp11.4-q13.1 CORDX3 300476 [44]
XR Xq27 CORDX2 300085 [45]
|