Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.430 GermlineCausalMutation ORPHANET Investigation of disease pathophysiology revealed that Kiaa0556 (-/-) null mice possess a Joubert syndrome-associated brain-restricted phenotype. 26714646

2015