TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Hydrocephalus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.320 Biomarker disease RGD Animals with TMEM67 heterozygous mutations manifest slowly progressing hydrocephalus, observed during the postnatal period and continuing into adulthood. 30705305 2019
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.320 GeneticVariation disease BEFREE Animals with TMEM67 heterozygous mutations manifest slowly progressing hydrocephalus, observed during the postnatal period and continuing into adulthood. 30705305 2019
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.320 CausalMutation disease CLINVAR Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969 2009
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.320 GeneticVariation disease BEFREE We have refined MKS3 mapping to a 12.67-Mb interval (8q21.13-q22.1) that is syntenic to the Wpk locus in rat, which is a model with polycystic kidney disease, agenesis of the corpus callosum and hydrocephalus. 16415887 2006
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.320 Biomarker disease HPO
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.320 GeneticVariation disease CLINVAR