Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C3554235
Disease: JOUBERT SYNDROME 20
JOUBERT SYNDROME 20 		0.600 CausalMutation CLINVAR TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family. 27449316

2016
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C3554235
Disease: JOUBERT SYNDROME 20
JOUBERT SYNDROME 20 		0.600 CausalMutation CLINVAR TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. 25869670

2015
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C3554235
Disease: JOUBERT SYNDROME 20
JOUBERT SYNDROME 20 		0.600 CausalMutation CLINVAR Mutations in TMEM231 cause Joubert syndrome in French Canadians. 23012439

2012