Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9731
Gene Symbol: CEP104
CEP104
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.530 GermlineCausalMutation ORPHANET Interestingly, we identified two additional non-FC JBTS subjects with mutations in CEP104; one of these subjects harbors a maternally inherited nonsense mutation (c.496C>T [p.Arg166*]) and a de novo splice-site mutation (c.2572-2A>G), whereas the other bears a homozygous frameshift mutation (c.1328_1329insT [p.Tyr444fs*3]) in CEP104. 26477546

2015