TBC1D1, TBC1 domain family member 1, 23216

N. diseases: 25; N. variants: 7
Disease: Renal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia 		0.010 GeneticVariation disease BEFREE Significantly reduced Glut4 levels were detected in kidneys of Tbc1d1 (-/-) mice and the dysplastic kidney of a TBC1D1 mutation carrier versus controls. 26572137 2016