TMEM231, transmembrane protein 231, 79583

N. diseases: 132; N. variants: 10
Disease: Meckel syndrome type 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.330 GeneticVariation disease BEFREE Targeted NGS of 29 known MKS-associated genes revealed a heterozygous TMEM231 splice donor variant c.929+1A>G. 31663672 2019
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.330 Biomarker disease BEFREE Thus, Tmem231 is critical for organizing the MKS complex and controlling ciliary composition, defects in which cause OFD3 and MKS. 25869670 2015
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.330 Biomarker disease BEFREE 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
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.330 Biomarker disease 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
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.330 Biomarker disease GENOMICS_ENGLAND Mutations in TMEM231 cause Joubert syndrome in French Canadians. 23012439 2012
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.330 Biomarker disease GENOMICS_ENGLAND
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.330 Biomarker disease GENOMICS_ENGLAND