Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23184
Gene Symbol: MESD
MESD
0.310 Biomarker disease GENOMICS_ENGLAND Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. 31564437 2019
Entrez Id: 23184
Gene Symbol: MESD
MESD
0.310 GeneticVariation disease BEFREE Because complete absence of MESD causes embryonic lethality in mice, we hypothesized that the OI-associated mutations are hypomorphic alleles since these mutations occur downstream of the chaperone activity domain but upstream of ER-retention domain. 31564437 2019