Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.630 CausalMutation disease 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 		0.630 CausalMutation disease 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 		0.630 GeneticVariation disease 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 		0.630 CausalMutation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.630 CausalMutation disease 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 		0.630 CausalMutation disease 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 		0.630 CausalMutation disease 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 		0.630 CausalMutation disease 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 		0.630 CausalMutation disease 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 		0.630 CausalMutation disease CLINVAR Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969 2009
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.630 CausalMutation disease 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 		0.630 CausalMutation disease 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 		0.630 CausalMutation disease CLINVAR Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 21866095 2011
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.630 CausalMutation disease 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 		0.630 CausalMutation disease CLINVAR Cerebellar vermis defect, oligophrenia, congenital ataxia, and hepatic fibrocirrhosis without coloboma and renal abnormalities: report of three cases. 12368986 2002
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.630 CausalMutation disease CLINVAR MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 19058225 2009
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 CausalMutation disease CLINVAR Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies. 29588463 2018
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 GeneticVariation disease CLINVAR CEP290, a gene with many faces: mutation overview and presentation of CEP290base. 20690115 2010
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 CausalMutation disease CLINVAR Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. 27353947 2016
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 CausalMutation disease CLINVAR Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. 16682970 2006
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 GeneticVariation disease CLINVAR Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. 16909394 2006
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 CausalMutation disease CLINVAR Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome. 17617513 2007
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 CausalMutation disease CLINVAR Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. 21245082 2011
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 CausalMutation disease CLINVAR CEP290, a gene with many faces: mutation overview and presentation of CEP290base. 20690115 2010
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 CausalMutation disease CLINVAR High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. 23188109 2012