TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: JOUBERT SYNDROME 6 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607115
rs267607115
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1853153
Disease:
JOUBERT SYNDROME 6 		C 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs267607115
rs267607115
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1853153
Disease:
JOUBERT SYNDROME 6 		C 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 21866095 2011
dbSNP: rs267607115
rs267607115
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1853153
Disease:
JOUBERT SYNDROME 6 		C 0.700 CausalMutation CLINVAR MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 19058225 2009