Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834182
rs386834182
TMEM67
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.700 GeneticVariation UNIPROT Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome. 28860541

2017
dbSNP: rs386834182
rs386834182
TMEM67
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.700 GeneticVariation UNIPROT Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260

2010
dbSNP: rs386834182
rs386834182
TMEM67
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.700 GeneticVariation UNIPROT MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 19058225

2009