FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: GELEOPHYSIC DYSPLASIA 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
GELEOPHYSIC DYSPLASIA 2 		0.610 GeneticVariation disease BEFREE FBN1 variants are responsible for the related connective tissue disorders, grouped under the generic term of type-1 fibrillinopathies, which include Marfan syndrome (MFS), MASS syndrome (Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings, Acromicric dysplasia, Familial ectopia lentis, Geleophysic dysplasia 2, Stiff skin syndrome, and dominant Weill-Marchesani syndrome. 26875674 2016
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
GELEOPHYSIC DYSPLASIA 2 		0.610 CausalMutation disease CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986 2015
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
GELEOPHYSIC DYSPLASIA 2 		0.610 GeneticVariation disease UNIPROT Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. 21683322 2011
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
GELEOPHYSIC DYSPLASIA 2 		0.610 Biomarker disease GENOMICS_ENGLAND FBN1 mutations in patients with descending thoracic aortic dissections. 20082464 2010
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
GELEOPHYSIC DYSPLASIA 2 		0.610 Biomarker disease GENOMICS_ENGLAND A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. 7762551 1995
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
GELEOPHYSIC DYSPLASIA 2 		0.610 GeneticVariation disease CLINVAR