GGT1, gamma-glutamyltransferase 1, 2678

N. diseases: 209; N. variants: 14
Disease: Corneal dystrophy, Lattice type 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339273
Disease: Corneal dystrophy, Lattice type 3
Corneal dystrophy, Lattice type 3 		0.010 GeneticVariation disease BEFREE We found three novel polymorphisms in the beta ig-h3 gene in patients with gelatinous drop-like corneal dystrophy: (1) a substitution from CTC to CTT at codon 472 that did not alter an amino acid; (2) a substitution from GCG (Ala) to GTG (Val) at codon 480; and (3) a substitution from C to T in intron 10, three nucleotides upstream from the acceptor site of exon 11. 9747041 1998