Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.800 GeneticVariation disease CLINVAR Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. 24091540 2013
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.800 GeneticVariation disease UNIPROT Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 26477546 2015
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.800 GeneticVariation disease CLINVAR C5orf42 is the major gene responsible for OFD syndrome type VI. 24178751 2014
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.800 GeneticVariation disease UNIPROT Mutations in TMEM231 cause Joubert syndrome in French Canadians. 23012439 2012
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.800 GeneticVariation disease UNIPROT Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360 2012
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.800 GeneticVariation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.800 GeneticVariation disease CLINVAR Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360 2012
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.800 GeneticVariation disease CLINVAR Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia. 28431631 2017
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.800 GeneticVariation disease CLINVAR Molecular genetic analysis of 30 families with Joubert syndrome. 27434533 2016
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.800 GeneticVariation disease CLINVAR Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. 29321670 2018
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		0.750 GeneticVariation disease UNIPROT Our data contribute to the evidence that C5orf42 is one of the causative genes for OFDVI. 25846457 2015
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		0.750 GeneticVariation disease UNIPROT C5orf42 is the major gene responsible for OFD syndrome type VI. 24178751 2014
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		0.750 GeneticVariation disease CLINVAR Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360 2012
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		0.750 GeneticVariation disease UNIPROT Oral-facial-digital syndrome VI (OFD6 OMIM #277170), also called Varadi-Papp syndrome, is a ciliopathy inherited in an autosomal recessive pattern. 27081551 2015
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		0.750 GeneticVariation disease BEFREE By whole or targeted exome sequencing, we identified seven novel germline recessive mutations in CPLANE1, including missense, nonsense, frameshift and canonical splice site variants, all causing OFD6 in these patients. 29605658 2018
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		0.750 GeneticVariation disease CLINVAR Our data contribute to the evidence that C5orf42 is one of the causative genes for OFDVI. 25846457 2015
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		0.750 GeneticVariation disease BEFREE The only gene known to be mutated in Varadi syndrome is C5ORF42. 28631893 2017
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 GeneticVariation disease BEFREE These variants were in the genes C5orf42 (associated with Joubert syndrome and orofaciodigital syndrome) and GYS2 (associated with glycogen synthase deficiency). 29961766 2019
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 GeneticVariation disease BEFREE C5orf42 mutations have already been reported in Joubert syndrome confirming that OFD VI and JBS are allelic disorders, thus enhancing our knowledge of the complex, highly heterogeneous nature of ciliopathies. 24178751 2014
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 GeneticVariation disease CLINVAR
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 GeneticVariation disease BEFREE We gathered and compared 46 biallelic CPLANE1 mutations reported in 32 JS and 26 OFD6 patients. 29605658 2018
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 GeneticVariation disease BEFREE The morphological neuroimaging findings in C5orf42-mutant JBTS were distinctly mild and made diagnosis difficult. 28431631 2017
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 GeneticVariation disease BEFREE We sequenced C5orf42 in 313 JS probands and identified mutations in 28 (8.9 %), most with a phenotype of pure JS. 25407461 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 GeneticVariation disease BEFREE In a subsequent study C5orf42 was found to be mutated in only 2 out of 17 OFDVI probands while 28 patients with a pure JS phenotype also had pathogenic mutations of C5orf42. 25846457 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 GeneticVariation disease BEFREE Our data suggest that mutations in C5ORF42 explain a large portion of French Canadian individuals with JBTS. 22425360 2012