Disease Term Disease ID Gene Symbol Classification References Source
ANEMIA, MEGALOBLASTIC AMN Unknown Disgenet
CUBN Unknown Disgenet
DHFR Unknown CTD Disgenet
MAOB Unknown CTD Disgenet
SLC19A2 Unknown Disgenet
TCN1 Unknown CTD
TCN2 Unknown CTD Disgenet
CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE DHFR Causal ClinVar GWAS catalog Orphanet
MEGALOBLASTIC ANEMIA
MONDO_0001700
CUBN Unknown GWAS catalog
FUT2 Unknown GWAS catalog
MMAA Unknown GWAS catalog
OOSP3 Unknown GWAS catalog
TCN1 Unknown GWAS catalog
TCN2 Unknown GWAS catalog
MEGALOBLASTIC ANEMIA 1 AMN Unknown Disgenet
CDC42BPB Unknown Disgenet
CUBN Unknown Disgenet
MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY DHFR Unknown CTD Disgenet HPO
MEGALOBLASTIC ANEMIA DUE TO FOLATE DEFICIENCY DHFR Unknown Disgenet
MEGALOBLASTIC ANEMIA, FOLATE-RESPONSIVE SLC19A1 Unknown ClinVar Disgenet GWAS catalog HPO
MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS
SLC19A2 Causal ClinVar