Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10464
Gene Symbol: PIBF1
PIBF1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.620 GeneticVariation CLINVAR An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. 26167768

2015
Entrez Id: 10464
Gene Symbol: PIBF1
PIBF1
CUI: C4540389
Disease: JOUBERT SYNDROME 33
JOUBERT SYNDROME 33 		0.600 CausalMutation CLINVAR

Entrez Id: 10464
Gene Symbol: PIBF1
PIBF1
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		0.100 CausalMutation CLINVAR