Disease: Acromicric Dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		0.320 Biomarker disease BEFREE This finding supports that LTBP3 is a disease gene for ACMICD. 30887145 2019
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		0.320 GermlineCausalMutation disease ORPHANET The constellation of features in these AD and GD cases, including postnatal growth retardation of long bones and lung involvement, is reminiscent of the null ltbp3 mice phenotype. 27068007 2016
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		0.320 GeneticVariation disease BEFREE A heterozygous missense mutation (exon 14: c.2087C>G: p.Ser696Cys) in latent transforming growth factor β (TGF-β)-binding protein-3 (LTBP3) was identified in a dominant AD family. 27068007 2016