DISEASES

Disease-gene associations mined from literature

Human genes for gelatinous drop-like corneal dystrophy

Gelatinous drop-like corneal dystrophy [DOID:0060449]

An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32.

Synonyms:  gelatinous drop-like corneal dystrophy,  DOID:0060449,  gelatinous droplike corneal dystrophy,  gelatinous drop-like corneal dystrophies,  corneal amyloidosis ...