TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: NEPHRONOPHTHISIS 11 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11 		0.710 Biomarker disease GENOMICS_ENGLAND A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. 26191240 2015
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11 		0.710 Biomarker disease GENOMICS_ENGLAND A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. 26191240 2015
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11 		0.710 Biomarker disease GENOMICS_ENGLAND Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations. 20607301 2010
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11 		0.710 Biomarker disease GENOMICS_ENGLAND Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). 19508969 2009
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11 		0.710 Biomarker disease GENOMICS_ENGLAND Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). 19508969 2009
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11 		0.710 Biomarker disease GENOMICS_ENGLAND MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 19058225 2009
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11 		0.710 GeneticVariation disease UNIPROT Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). 19508969 2009
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11 		0.710 GeneticVariation disease BEFREE Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). 19508969 2009
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11 		0.710 Biomarker disease GENOMICS_ENGLAND Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. 18327255 2008
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11 		0.710 Biomarker disease GENOMICS_ENGLAND The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 16415887 2006
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11 		0.710 Biomarker disease GENOMICS_ENGLAND [Investigations on the stability of droplets from medical jet and ultrasound aerosol atomizers (author's transl)]. 613550 1977
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11 		0.710 CausalMutation disease CLINVAR
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11 		0.710 Biomarker disease CTD_human
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11 		0.710 GeneticVariation disease CLINVAR