Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder)
0.720 Biomarker disease GENOMICS_ENGLAND [Clinical and genetic analysis of a family with Joubert syndrome type 10 caused by OFD1 gene mutation]. 28173652 2017
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder)
0.720 GeneticVariation disease UNIPROT Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 26477546 2015
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder)
0.720 CausalMutation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder)
0.720 CausalMutation disease CLINVAR CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. 24884629 2014
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder)
0.720 GeneticVariation disease BEFREE Mutations in OFD1 also cause X-linked Joubert syndrome (JBTS10) and Simpson-Golabi-Behmel syndrome type 2 (SGBS2). 23033313 2013
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder)
0.720 Biomarker disease GENOMICS_ENGLAND OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment. 23036093 2013
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder)
0.720 Biomarker disease GENOMICS_ENGLAND 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: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder)
0.720 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: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder)
0.720 Biomarker disease GENOMICS_ENGLAND OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. 19800048 2009
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder)
0.720 GeneticVariation disease UNIPROT OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. 19800048 2009
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder)
0.720 Biomarker disease GENOMICS_ENGLAND OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. 19800048 2009
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder)
0.720 CausalMutation disease CLINVAR Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. 18546297 2008
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder)
0.720 Biomarker disease GENOMICS_ENGLAND Identification of the gene for oral-facial-digital type I syndrome. 11179005 2001
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder)
0.720 Biomarker disease CTD_human
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder)
0.720 Biomarker disease GENOMICS_ENGLAND