Disease Term Disease ID Gene Symbol Classification References Source
Methylenetetrahydrofolate reductase deficiency C1856061 MTHFR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7920641, 11181567, 12733064, 20356773, 25736335, 27130656, 27743313 -