Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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|
0.730 | GeneticVariation | disease | BEFREE | The phenotype which resulted from the TGFBI R555W mutation in this family is distinct from that observed in the typical case of CDGG1. | 21264234 | 2011 | ||||
|
0.730 | GermlineCausalMutation | disease | ORPHANET | To report the clinical and molecular features of a distinct form of transforming growth factor-β-induced (TGFBI) gene-linked corneal dystrophy exhibiting a new granular corneal dystrophy type I (CDGG1) phenotype. | 21264234 | 2011 | ||||
|
0.730 | GeneticVariation | disease | BEFREE | p.Ala546 > Asp and p.Arg555 > Trp mutations of TGFBI gene and their clinical manifestations in two large Chinese families with granular corneal dystrophy type I. | 18752451 | 2008 | ||||
|
0.730 | Biomarker | disease | GENOMICS_ENGLAND | Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. | 17668063 | 2007 | ||||
|
0.730 | GeneticVariation | disease | UNIPROT | TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. | 15623763 | 2005 | ||||
|
0.730 | GeneticVariation | disease | BEFREE | Recently RBCD, together with lattice corneal dystrophy type I (LCDI), granular corneal dystrophy (CDGG1) and Avellino stromal dystrophy (ASD), all mapped on 5q31, were found to be associated to four different mutations in the beta ig-h3 gene which codify for kerato-epithelin. | 10660331 | 1998 | ||||
|
0.730 | Biomarker | disease | GENOMICS_ENGLAND | Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene. | 9727509 | 1998 | ||||
|
0.730 | Biomarker | disease | CTD_human | |||||||
|
0.730 | CausalMutation | disease | CLINVAR | |||||||
|
0.730 | Biomarker | disease | GENOMICS_ENGLAND |