Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.330 Biomarker GENOMICS_ENGLAND TMEM231 represents a novel MKS locus.The very recent identification of TMEM231 mutations in Joubert syndrome supports the growing appreciation of the overlap in the molecular pathogenesis between these two ciliopathies. 23349226

2013
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.330 Biomarker GENOMICS_ENGLAND Mutations in TMEM231 cause Joubert syndrome in French Canadians. 23012439

2012
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.330 Biomarker GENOMICS_ENGLAND

Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.330 Biomarker GENOMICS_ENGLAND