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: C0010709
Disease: Cyst
Cyst
0.010 GeneticVariation disease BEFREE Mice homozygous for a hypomorphic missense mutation within the conserved Tubby domain of Tulp3 develop cysts at late embryonic stages, leading to severe postnatal loss of kidney function. 30799240 2019