TBC1D1, TBC1 domain family member 1, 23216

N. diseases: 25; N. variants: 7
Disease: Congenital anomaly of the kidney ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		0.010 GeneticVariation group BEFREE Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT). 26572137 2016