Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.530 | Biomarker | disease | GENOMICS_ENGLAND | Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. | 30266093 | 2018 | ||||
|
0.530 | Biomarker | disease | BEFREE | This region contains a biologically plausible gene for CMI, fibrillin-1, which is a major gene in Marfan syndrome and has been linked to Shprintzen-Goldberg syndrome, of which CMI is a distinguishing characteristic. | 17103432 | 2006 | ||||
|
0.530 | GeneticVariation | disease | ORPHANET | Molecular pathology of Shprintzen-Goldberg syndrome. | 16333834 | 2006 | ||||
|
0.530 | GeneticVariation | disease | BEFREE | Fibrillin-1 mutations have also been found in several other related connective tissue disorders, such as severe neonatal Marfan syndrome, dominant ectopia lentis, familial ascending aortic aneurysm, isolated skeletal features of Marfan syndrome, and Shprintzen-Goldberg syndrome. | 9401003 | 1997 | ||||
|
0.530 | GeneticVariation | disease | ORPHANET | P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome. | 9338588 | 1997 | ||||
|
0.530 | GeneticVariation | disease | ORPHANET | While it remains unclear whether these mutations are sufficient for the clinical expression of the entire SGS phenotype, these data suggest a role for fibrillin-1 in early craniofacial and central nervous system development. | 8563763 | 1996 | ||||
|
0.530 | AlteredExpression | disease | BEFREE | While it remains unclear whether these mutations are sufficient for the clinical expression of the entire SGS phenotype, these data suggest a role for fibrillin-1 in early craniofacial and central nervous system development. | 8563763 | 1996 | ||||
|
0.530 | Biomarker | disease | GENOMICS_ENGLAND | Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. | 8406497 | 1993 |