TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: BARDET-BIEDL SYNDROME 14 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder) 		0.600 Biomarker disease GENOMICS_ENGLAND A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. 26191240 2015
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder) 		0.600 Biomarker disease GENOMICS_ENGLAND A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. 26191240 2015
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder) 		0.600 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: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder) 		0.600 Biomarker disease GENOMICS_ENGLAND [Investigations on the stability of droplets from medical jet and ultrasound aerosol atomizers (author's transl)]. 613550 1977
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder) 		0.600 Biomarker disease CTD_human
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder) 		0.600 CausalMutation disease CLINVAR
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder) 		0.600 GeneticVariation disease CLINVAR