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Diseases List


Leber congenital amaurosis

Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy.

Associated Genes

Gene Name Chromosome number BMRB EntriesPDB Entries
RPE65 1
TULP1 6 PDB Entries
IMPDH1 7 PDB Entries
MYO7A 11
RPGRIP1 14 PDB Entries