TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases
0.510 GeneticVariation group BEFREE Ten causative genes (NPHP1-NPHP9 and NPHP11), whose products localize to the primary cilia-centrosome complex, support the unifying concept that cystic kidney diseases are "ciliopathies". 20179356 2010
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases
0.510 Biomarker group CTD_human Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969 2009
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases
0.510 Biomarker group RGD The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 16415887 2006