TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Autosomal Recessive Polycystic Kidney Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		0.210 Biomarker disease RGD Hydrocephalus in a rat model of Meckel Gruber syndrome with a TMEM67 mutation. 30705305 2019
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		0.210 GeneticVariation disease BEFREE TMEM67 mutations are associated with severe autosomal recessive polycystic kidney disease (ARPKD) in both humans and animals. 23456819 2013