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: rs775883520
rs775883520
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1853153
Disease:
JOUBERT SYNDROME 6 		G 0.700 CausalMutation CLINVAR A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome. 28719906 2017
dbSNP: rs775883520
rs775883520
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1853153
Disease:
JOUBERT SYNDROME 6 		G 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs775883520
rs775883520
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1853153
Disease:
JOUBERT SYNDROME 6 		G 0.700 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409 2013
dbSNP: rs775883520
rs775883520
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1853153
Disease:
JOUBERT SYNDROME 6 		G 0.700 CausalMutation CLINVAR Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260 2010