TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Nephronophthisis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.430 GeneticVariation disease BEFREE To identify disease-causing mutations within coding regions of 11 known NPHP genes (NPHP1-NPHP11) in a cohort of 192 patients diagnosed with a nephronophthisis-associated ciliopathy, at low cost. 23188109 2012
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.430 CausalMutation disease CLINVAR Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 21866095 2011
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.430 Biomarker disease GENOMICS_ENGLAND Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations. 20607301 2010
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.430 GeneticVariation disease BEFREE Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). 19508969 2009
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.430 CausalMutation disease CLINVAR Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). 19508969 2009
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.430 Biomarker disease GENOMICS_ENGLAND Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). 19508969 2009
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.430 Biomarker disease GENOMICS_ENGLAND Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. 18327255 2008
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.430 GeneticVariation disease BEFREE Nephronophthisis (NPHP) is found in 17-27% of these patients, which was designated JS type B. Mutations in four separate genes (AHI1, NPHP1, CEP290/NPHP6, and MKS3) are linked to JS. 17960139 2007
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.430 Biomarker disease GENOMICS_ENGLAND The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 16415887 2006
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.430 Biomarker disease HPO
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.430 GeneticVariation disease CLINVAR