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
0.150 GeneticVariation disease BEFREE Orofaciodigital syndrome type I and X-linked recessive Joubert syndrome are known ciliopathic disorders that are caused by pathogenic variants in OFD1 gene. 30895720 2019
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.150 CausalMutation disease CLINVAR Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. 28289185 2017
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.150 GeneticVariation disease CLINVAR Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly. 27081566 2016
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.150 CausalMutation disease CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.150 CausalMutation disease CLINVAR CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. 24884629 2014
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.150 CausalMutation disease CLINVAR OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment. 23036093 2013
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.150 GeneticVariation disease BEFREE Mutations in OFD1 also cause X-linked Joubert syndrome (JBTS10) and Simpson-Golabi-Behmel syndrome type 2 (SGBS2). 23033313 2013
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.150 GeneticVariation disease BEFREE Mutations in OFD1 cause the syndromic ciliopathies orofaciodigital syndrome-1, which is male lethal, Simpson-Golabi-Behmel syndrome type 2 and Joubert syndrome. 22619378 2012
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.150 GeneticVariation disease BEFREE Using a combination of linkage mapping and massively parallel sequencing of the X-chromosome exome, we identified an 18-bp deletion in exon 8 of the oral-facial-digital syndrome type 1 (OFD1) gene in a family with X-linked Joubert syndrome (JBTS10). 22353940 2012
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.150 GeneticVariation disease BEFREE OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. 19800048 2009
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.150 GeneticVariation disease CLINVAR Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. 18546297 2008
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.150 CausalMutation disease CLINVAR Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. 18546297 2008
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.150 GeneticVariation disease CLINVAR A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. 16783569 2006