TMEM231, transmembrane protein 231, 79583

N. diseases: 132; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809352
Disease: MECKEL SYNDROME, TYPE 11
MECKEL SYNDROME, TYPE 11
0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3809352
Disease: MECKEL SYNDROME, TYPE 11
MECKEL SYNDROME, TYPE 11
0.600 CausalMutation disease CLINVAR Mutations in TMEM231 cause Joubert syndrome in French Canadians. 23012439 2012
CUI: C3809352
Disease: MECKEL SYNDROME, TYPE 11
MECKEL SYNDROME, TYPE 11
0.600 Biomarker disease GENOMICS_ENGLAND Mutations in TMEM231 cause Joubert syndrome in French Canadians. 23012439 2012
CUI: C3809352
Disease: MECKEL SYNDROME, TYPE 11
MECKEL SYNDROME, TYPE 11
0.600 GeneticVariation disease UNIPROT Mutations in TMEM231 cause Meckel-Gruber syndrome. 23349226 2013
CUI: C3809352
Disease: MECKEL SYNDROME, TYPE 11
MECKEL SYNDROME, TYPE 11
0.600 Biomarker disease GENOMICS_ENGLAND Mutations in TMEM231 cause Meckel-Gruber syndrome. 23349226 2013
CUI: C3809352
Disease: MECKEL SYNDROME, TYPE 11
MECKEL SYNDROME, TYPE 11
0.600 CausalMutation disease CLINVAR TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family. 27449316 2016
CUI: C3809352
Disease: MECKEL SYNDROME, TYPE 11
MECKEL SYNDROME, TYPE 11
0.600 CausalMutation disease CLINVAR TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. 25869670 2015