TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Cerebellar vermis hypoplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.100 CausalMutation phenotype CLINVAR Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969 2009
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.100 Biomarker phenotype HPO