TGM1, transglutaminase 1, 7051

N. diseases: 117; N. variants: 88
Disease: Dwarfism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease BEFREE Here we report the origin and segregation of the first reported between-arm intrachromosomal insertion of 11p15.5 that encompasses both ICR1 and ICR2 in a multigenerational family with a history of short stature. 24668696 2014
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease HPO