FBN1, fibrillin 1, 2200

N. diseases: 137; N. variants: 1044
Disease: GELEOPHYSIC DYSPLASIA 2 ×
Source: CLINVAR ×
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 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 CLINVAR