TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Cystic kidney ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022679
Disease: Cystic kidney
Cystic kidney 		0.510 GeneticVariation disease BEFREE Transmembrane protein 67 (TMEM67) is mutated in Meckel Gruber Syndrome type 3 (MKS3) resulting in a pleiotropic phenotype with hydrocephalus and renal cystic disease in both humans and rodent models. 30705305 2019
CUI: C0022679
Disease: Cystic kidney
Cystic kidney 		0.510 Biomarker disease CTD_human Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969 2009
CUI: C0022679
Disease: Cystic kidney
Cystic kidney 		0.510 Biomarker disease MGD