Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
0.400 CausalMutation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
0.400 GermlineCausalMutation disease ORPHANET Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. 24886560 2014
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
0.400 CausalMutation disease CLINVAR B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. 21493627 2011
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
0.400 GeneticVariation disease CLINVAR