Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.750 CausalMutation disease CLINVAR A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. 25979247 2016
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.750 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: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.750 CausalMutation disease CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.750 GeneticVariation disease CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.750 GeneticVariation disease BEFREE Mutations in FBN1 gene have been identified in AD, GD and WMS patients. 25142510 2015
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.750 GeneticVariation disease BEFREE These phenotypes provide evidence that missense mutations in exons 41 and 42 of FBN1 lead to MFS and WMS in addition to AD and GD and also suggest that all individuals with pathogenic FBN1 mutations in these exons should be assessed for thoracic aortic disease and ectopia lentis. 23897642 2014
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.750 Biomarker disease BEFREE Recently, we identified fibrillin 1 (FBN1) as the disease gene of AD. 24339047 2014
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.750 GeneticVariation disease UNIPROT Although enhanced TGFβ signaling caused by FBN1 mutations can trigger either Marfan syndrome or GD and AD, our findings support the fact that TB5 mutations in FBN1 are responsible for short stature phenotypes. 21683322 2011
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.750 GeneticVariation disease BEFREE Although enhanced TGFβ signaling caused by FBN1 mutations can trigger either Marfan syndrome or GD and AD, our findings support the fact that TB5 mutations in FBN1 are responsible for short stature phenotypes. 21683322 2011
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.750 GeneticVariation disease UNIPROT We identified 16 heterozygous FBN1 mutations that are all located in exons 41 and 42 and encode TGFβ-binding protein-like domain 5 (TB5) of FBN1 in 29 GD and AD cases. 21683322 2011
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.750 GeneticVariation disease UNIPROT After exome sequencing in GD and AD cases, we selected fibrillin 1 (FBN1) as a candidate gene, even though mutations in this gene have been described in Marfan syndrome, which is characterized by tall stature and arachnodactyly. 21683322 2011
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.750 CausalMutation disease CLINVAR Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. 1852206 1991
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.750 Biomarker disease CTD_human
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.750 GermlineCausalMutation disease ORPHANET