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Properties
MORBIDMAP
:NAME MM: Corneal dystrophy, lattice type IIIA
:MORBID_ID 608471
:NUM 3
:SYM (TGFBI CSD2 CDGG1 CSD BIGH3 CDG2 EBMD)
:LOCUS 5q31.1
:OMIM_ID 601692
:SNP CORNEAL DYSTROPHY, GROENOUW TYPE I; TGFBI, ARG555TRP; rs121909208
CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE; TGFBI, ARG555GLN; rs121909209
CORNEAL DYSTROPHY, LATTICE TYPE I; TGFBI, ARG124CYS; rs121909210
CORNEAL DYSTROPHY, AVELLINO TYPE; TGFBI, ARG124HIS; rs121909211
CORNEAL DYSTROPHY, LATTICE TYPE IIIA; TGFBI, PRO501THR; rs121909212
CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE; TGFBI, ARG124LEU; rs121909213
CORNEAL DYSTROPHY, LATTICE TYPE IIIA; TGFBI, PHE540SER; rs121909214
CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE; TGFBI, GLY623ASP; rs121909215
CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE; TGFBI, LEU509ARG; rs121909216
CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE; TGFBI, ARG666SER; rs121909217
:AAUSHI CORNEAL_DISEASE
:AAUSHIGENE TRANSFORMING_GROWTH_FACTOR_BETA_INDUCED_PROTEIN_IG_H3