TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Fibrosis, Liver ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.440 Biomarker disease BEFREE Overall, TMEM67 showed one of the widest clinical continuum observed in ciliopathies ranging from early lethality to adults with liver fibrosis. 29891882 2018
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.440 Biomarker disease BEFREE Loss of CEP290 function is associated with retinal dystrophy, while loss of TMEM67 function is associated with liver fibrosis and coloboma, but we observe no clear-cut distinction between JS subtypes. 26092869 2015
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.440 Biomarker disease CTD_human Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). 19508969 2009
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.440 GeneticVariation disease BEFREE At least eight genes cause JSRD, with some genotype-phenotype correlations emerging, including the association between mutations in the MKS3 gene and hepatic fibrosis characteristic of the JSRD subtype known as COACH syndrome. 19876931 2009
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.440 GeneticVariation disease BEFREE Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). 19508969 2009
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.440 Biomarker disease HPO