TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: COACH syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853107
rs137853107
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1857662
Disease:
COACH syndrome 		0.800 GeneticVariation UNIPROT Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome. 28860541 2017
dbSNP: rs137853107
rs137853107
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1857662
Disease:
COACH syndrome 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Joubert syndrome. 21448235 2011
dbSNP: rs137853107
rs137853107
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1857662
Disease:
COACH syndrome 		0.800 GeneticVariation UNIPROT Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260 2010
dbSNP: rs137853107
rs137853107
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1857662
Disease:
COACH syndrome 		0.800 GeneticVariation UNIPROT MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 19058225 2009
dbSNP: rs137853107
rs137853107
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1857662
Disease:
COACH syndrome 		G 0.800 CausalMutation CLINVAR