Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 GeneticVariation CLINVAR Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 23386033

2013
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 CausalMutation CLINVAR INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. 19668215

2009
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 GeneticVariation CLINVAR INPP5E localized to cilia in major organs affected by Joubert syndrome, and mutations promoted premature destabilization of cilia in response to stimulation. 19668216

2009
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 CausalMutation CLINVAR AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 16453322

2006
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 CausalMutation CLINVAR AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. 16155189

2006
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 GeneticVariation CLINVAR

Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 GeneticVariation CLINVAR

Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome. 28719906

2017
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia. 28431631

2017
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR Joubert syndrome: genotyping a Northern European patient cohort. 25920555

2016
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping. 26729329

2016
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway. 26035863

2015
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409

2013
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. 21068128

2011
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 21866095

2011
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260

2010
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 20232449

2010
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations. 20607301

2010
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. 19508969

2009
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome. 19540516

2009
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 19058225

2009
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. 17397051

2007
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. 17377820

2007