rs200799769, TMEM231

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
JOUBERT SYNDROME 20
CUI: C3554235
Disease: JOUBERT SYNDROME 20
0.800 CausalMutation CLINVAR TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family. 27449316 2016
JOUBERT SYNDROME 20
CUI: C3554235
Disease: JOUBERT SYNDROME 20
0.800 GeneticVariation UNIPROT Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 26477546 2015
JOUBERT SYNDROME 20
CUI: C3554235
Disease: JOUBERT SYNDROME 20
0.800 CausalMutation CLINVAR Mutations in TMEM231 cause Joubert syndrome in French Canadians. 23012439 2012
JOUBERT SYNDROME 20
CUI: C3554235
Disease: JOUBERT SYNDROME 20
0.800 GeneticVariation UNIPROT Mutations in TMEM231 cause Joubert syndrome in French Canadians. 23012439 2012
MECKEL SYNDROME, TYPE 11
CUI: C3809352
Disease: MECKEL SYNDROME, TYPE 11
0.700 CausalMutation CLINVAR TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family. 27449316 2016
MECKEL SYNDROME, TYPE 11
CUI: C3809352
Disease: MECKEL SYNDROME, TYPE 11
0.700 CausalMutation CLINVAR Mutations in TMEM231 cause Joubert syndrome in French Canadians. 23012439 2012