TBPL1, TATA-box binding protein like 1, 9519

N. diseases: 198; N. variants: 1
Disease: Polycystic Kidney Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.020 GeneticVariation group BEFREE TRPP2 (polycystin-2) is a member of the TRP family of non-selective cation channels that is mutated in human autosomal polycystic kidney disease. 17535744 2006
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.020 GeneticVariation group BEFREE Mutations of TRP proteins produce many renal diseases, including Mg2+ wasting, hypocalcemia, and polycystic kidney diseases. 15213256 2004