rs775883520, TMEM67

N. diseases: 6
Disease: JOUBERT SYNDROME 6 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
JOUBERT SYNDROME 6
CUI: C1853153
Disease: JOUBERT SYNDROME 6
0.700 CausalMutation CLINVAR A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome. 28719906 2017
JOUBERT SYNDROME 6
CUI: C1853153
Disease: JOUBERT SYNDROME 6
0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
JOUBERT SYNDROME 6
CUI: C1853153
Disease: JOUBERT SYNDROME 6
0.700 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409 2013
JOUBERT SYNDROME 6
CUI: C1853153
Disease: JOUBERT SYNDROME 6
0.700 CausalMutation CLINVAR Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260 2010