Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		0.900 Biomarker MGD Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects. 23283079

2013
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		0.900 Biomarker MGD A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. 21725307

2011
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0022679
Disease: Cystic kidney
Cystic kidney 		0.510 Biomarker MGD

Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0311245
Disease: Congenital cystic kidney disease
Congenital cystic kidney disease 		0.200 Biomarker MGD

Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1415817
Disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL
HETEROTAXY, VISCERAL, 2, AUTOSOMAL 		0.200 Biomarker MGD

Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.200 Biomarker MGD

Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1853444
Disease: Heterotaxy, Visceral, 3, Autosomal
Heterotaxy, Visceral, 3, Autosomal 		0.200 Biomarker MGD

Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C3151057
Disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL
HETEROTAXY, VISCERAL, 4, AUTOSOMAL 		0.200 Biomarker MGD

Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C3151867
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED 		0.200 Biomarker MGD

Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		0.200 Biomarker MGD

Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C3553676
Disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL
HETEROTAXY, VISCERAL, 6, AUTOSOMAL 		0.200 Biomarker MGD