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TGFBI - transforming growth factor beta induced
- Synonym(s) : BIGH3, CDB1, CDGG1
- Previous symbols and names : CSD1, CSD2, CSD3, LCD1, transforming growth factor, beta-induced, 68kD, transforming growth factor, beta-induced, 68kDa
- Type : gene with protein product
- Chromosomal location : 5q31.1
- OMIM: 601692
- HGNC: 11771
- UniProtKB: Q15582
- Genatlas: TGFBI
- Ensembl: ENSG00000120708
- IUPHAR-DB: -
- Reactome: Q15582
- LOVD: TGFBI
Diseases list
- Disease-causing germline mutation(s) in Epithelial basement membrane dystrophy
ORPHA:98956 
- Disease-causing germline mutation(s) in Granular corneal dystrophy type I
ORPHA:98962 - Disease-causing germline mutation(s) in Granular corneal dystrophy type II
ORPHA:98963 - Disease-causing germline mutation(s) in Lattice corneal dystrophy type I
ORPHA:98964 - Disease-causing germline mutation(s) in Reis-Bücklers corneal dystrophy
ORPHA:98961 - Disease-causing germline mutation(s) in Thiel-Behnke corneal dystrophy
ORPHA:98960
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
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