TULP3, TUB like protein 3, 7289

N. diseases: 22; N. variants: 2
Disease: Familial aplasia of the vermis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.010 Biomarker disease BEFREE Instead, we demonstrate that Tulp3 is essential for the trafficking of the Joubert syndrome-associated small GTPase Arl13b into kidney cilia. 30799240 2019