SPART, spartin, 23111

N. diseases: 110; N. variants: 6
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 GeneticVariation disease BEFREE Loss-of-function mutations in the SPG20 gene encoding spartin cause autosomal recessive Troyer syndrome (SPG20), which has additional features of short stature, cognitive deficits and distal amyotrophy. 22619377 2012
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease HPO