rs1490496033, TMEM67

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
COACH syndrome
CUI: C1857662
Disease: COACH syndrome
0.700 GeneticVariation UNIPROT Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome. 28860541 2017
COACH syndrome
CUI: C1857662
Disease: 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
COACH syndrome
CUI: C1857662
Disease: 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