TMEM231, transmembrane protein 231, 79583

N. diseases: 132; N. variants: 10
Disease: Renal cyst ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.110 Biomarker phenotype BEFREE Consistent with a role in transition zone function, mutation of mouse Tmem231 disrupts the localization of proteins including Arl13b and Inpp5e to cilia, resulting in phenotypes characteristic of MKS such as polydactyly and kidney cysts. 25869670 2015
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.110 Biomarker phenotype HPO