SRY, sex determining region Y, 6736

N. diseases: 315; N. variants: 27
Disease: Dwarfism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 GeneticVariation disease BEFREE We report long-term follow-up of a 5-year-old African-American male whose evaluation for short stature revealed a karyotype of 45,X der(X)t(X;Y)(p22.3;p11.2)(SRY+). 25781530 2015
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 GeneticVariation disease BEFREE Lack of a second sex chromosome in a majority of cells [mosaic karyotype and mutation(s) in the SRY gene] in these patients may have triggered the short stature. 15687343 2005
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 Biomarker disease HPO