Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.330 GermlineCausalMutation ORPHANET The CEP120-associated phenotype ranges from mild classical JS in four patients to more severe conditions in two fetuses, with overlapping features of distinct ciliopathies that include TCDOE, MKS, JATD and OFD syndromes. 27208211

2016