TMEM216, transmembrane protein 216, 51259

N. diseases: 154; N. variants: 16
Disease: MECKEL SYNDROME, TYPE 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
MECKEL SYNDROME, TYPE 2 		0.710 GeneticVariation disease BEFREE Its genetic aetiology remains largely unknown although mutations in the TMEM216 gene, responsible for Joubert (JBS2) and Meckel-Gruber (MKS2) syndromes, have been reported in two OFD VI patients. 24178751 2014
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
MECKEL SYNDROME, TYPE 2 		0.710 GeneticVariation disease CLINVAR Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. 23351400 2012
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
MECKEL SYNDROME, TYPE 2 		0.710 CausalMutation disease CLINVAR Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 22282472 2012
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
MECKEL SYNDROME, TYPE 2 		0.710 GeneticVariation disease UNIPROT Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 20512146 2010
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
MECKEL SYNDROME, TYPE 2 		0.710 Biomarker disease GENOMICS_ENGLAND Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 20512146 2010
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
MECKEL SYNDROME, TYPE 2 		0.710 CausalMutation disease CLINVAR Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 20512146 2010
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
MECKEL SYNDROME, TYPE 2 		0.710 GeneticVariation disease CLINVAR Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 20512146 2010
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
MECKEL SYNDROME, TYPE 2 		0.710 CausalMutation disease CLINVAR Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. 20036350 2010
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
MECKEL SYNDROME, TYPE 2 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
MECKEL SYNDROME, TYPE 2 		0.710 Biomarker disease CTD_human
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
MECKEL SYNDROME, TYPE 2 		0.710 Biomarker disease GENOMICS_ENGLAND