Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		0.950 Biomarker GENOMICS_ENGLAND A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. 26191240

2015
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		0.950 Biomarker GENOMICS_ENGLAND A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. 26191240

2015
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		0.950 Biomarker GENOMICS_ENGLAND 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: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		0.950 Biomarker GENOMICS_ENGLAND Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969

2009
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		0.950 Biomarker GENOMICS_ENGLAND Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969

2009
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		0.950 Biomarker GENOMICS_ENGLAND 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: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		0.950 Biomarker GENOMICS_ENGLAND Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. 18327255

2008
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		0.950 Biomarker GENOMICS_ENGLAND The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 16415887

2006
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		0.950 Biomarker GENOMICS_ENGLAND [Investigations on the stability of droplets from medical jet and ultrasound aerosol atomizers (author's transl)]. 613550

1977
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		0.900 Biomarker GENOMICS_ENGLAND 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: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		0.900 Biomarker GENOMICS_ENGLAND 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: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		0.900 Biomarker GENOMICS_ENGLAND 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: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		0.900 Biomarker GENOMICS_ENGLAND Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969

2009
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		0.900 Biomarker GENOMICS_ENGLAND Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969

2009
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		0.900 Biomarker GENOMICS_ENGLAND Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. 18327255

2008
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		0.900 Biomarker GENOMICS_ENGLAND The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 16415887

2006
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		0.900 Biomarker GENOMICS_ENGLAND [Investigations on the stability of droplets from medical jet and ultrasound aerosol atomizers (author's transl)]. 613550

1977
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.740 Biomarker GENOMICS_ENGLAND A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. 26191240

2015
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.740 Biomarker GENOMICS_ENGLAND A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. 26191240

2015
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.740 Biomarker GENOMICS_ENGLAND 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: C1857662
Disease: COACH syndrome
COACH syndrome 		0.740 Biomarker GENOMICS_ENGLAND Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969

2009
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.740 Biomarker GENOMICS_ENGLAND Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969

2009
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.740 Biomarker GENOMICS_ENGLAND 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: C1857662
Disease: COACH syndrome
COACH syndrome 		0.740 Biomarker GENOMICS_ENGLAND 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: C1857662
Disease: COACH syndrome
COACH syndrome 		0.740 Biomarker GENOMICS_ENGLAND Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. 18327255

2008