TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Meckel-Gruber syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs765468645
rs765468645
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0265215
Disease:
Meckel-Gruber syndrome 		T 0.700 GeneticVariation CLINVAR Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping. 26729329 2016