Disease: JOUBERT SYNDROME 9 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs763486732
rs763486732
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
CUI: C2676788
Disease:
JOUBERT SYNDROME 9 (disorder) 		A 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs763486732
rs763486732
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
CUI: C2676788
Disease:
JOUBERT SYNDROME 9 (disorder) 		0.800 GeneticVariation UNIPROT Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 26477546 2015
dbSNP: rs763486732
rs763486732
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
CUI: C2676788
Disease:
JOUBERT SYNDROME 9 (disorder) 		0.800 GeneticVariation UNIPROT Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. 22241855 2012
dbSNP: rs763486732
rs763486732
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
CUI: C2676788
Disease:
JOUBERT SYNDROME 9 (disorder) 		0.800 GeneticVariation UNIPROT Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360 2012
dbSNP: rs763486732
rs763486732
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
CUI: C2676788
Disease:
JOUBERT SYNDROME 9 (disorder) 		0.800 GeneticVariation UNIPROT CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 22246503 2012
dbSNP: rs763486732
rs763486732
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
CUI: C2676788
Disease:
JOUBERT SYNDROME 9 (disorder) 		0.800 GeneticVariation UNIPROT Mutations in TMEM231 cause Joubert syndrome in French Canadians. 23012439 2012
dbSNP: rs763486732
rs763486732
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
CUI: C2676788
Disease:
JOUBERT SYNDROME 9 (disorder) 		0.800 GeneticVariation UNIPROT CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 19777577 2009
dbSNP: rs763486732
rs763486732
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
CUI: C2676788
Disease:
JOUBERT SYNDROME 9 (disorder) 		0.800 GeneticVariation UNIPROT CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. 18387594 2008
dbSNP: rs763486732
rs763486732
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
CUI: C2676788
Disease:
JOUBERT SYNDROME 9 (disorder) 		0.800 GeneticVariation UNIPROT CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 18950740 2008