SPART, spartin, 23111

N. diseases: 110; N. variants: 6
Disease: Testicular regression syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266427
Disease: Testicular regression syndrome
Testicular regression syndrome 		0.010 GeneticVariation disease BEFREE We report mapping of the TRS locus to chromosome 13q12.3 and identify a frameshift mutation in SPG20, encoding spartin. 12134148 2002