TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Trichohepatoenteric Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 Biomarker disease BEFREE To the best of our knowledge, this is the first report verifying the causality between COACH syndrome and TMEM67, which will further our understanding of molecular pathogenesis of the syndrome. 28860541 2017