TMEM216, transmembrane protein 216, 51259

N. diseases: 154; N. variants: 16
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 		0.310 GeneticVariation disease BEFREE TMEM216 formed a complex with Meckelin, which is encoded by a gene also mutated in JSRDs and MKS. 20512146 2010
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.310 Biomarker disease GENOMICS_ENGLAND TMEM216 formed a complex with Meckelin, which is encoded by a gene also mutated in JSRDs and MKS. 20512146 2010
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.310 Biomarker disease GENOMICS_ENGLAND TMEM216 formed a complex with Meckelin, which is encoded by a gene also mutated in JSRDs and MKS. 20512146 2010
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.310 Biomarker disease GENOMICS_ENGLAND Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. 20036350 2010