TULP3, TUB like protein 3, 7289

N. diseases: 22; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022679
Disease: Cystic kidney
Cystic kidney
0.020 Biomarker disease BEFREE Here, we demonstrate that embryonic-stage, nephron-specific Tulp3 knockout mice developed cystic kidneys, while retaining intact cilia. 30799239 2019
CUI: C0022679
Disease: Cystic kidney
Cystic kidney
0.020 GeneticVariation disease BEFREE Here we identify the gene Tubby-like protein-3 (Tulp3) as a key regulator of renal cystic disease from a forward genetic screen in the mouse. 30799240 2019