TMEM216, transmembrane protein 216, 51259

N. diseases: 154; N. variants: 16
Disease: Ciliopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.310 GeneticVariation disease BEFREE Here, we report that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable human ciliopathy, Joubert syndrome. 22282472 2012
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.310 Biomarker disease GENOMICS_ENGLAND