Methemoglobinemia

Disease Term Disease ID Gene Symbol Classification References Source
METHEMOGLOBINEMIA
C0025637MESH:D008708MONDO:0001117
CYB5A Unknown — Disgenet
CYB5R3 Unknown
11159544 15921385 16469290 2107882 29482478 3035541 7668255 7718898 9886302
CTD Disgenet GWAS catalog
CYP1A2 Unknown
12030840
CTD Disgenet
HBA1 Unknown
3026948
CTD Disgenet
HBB Unknown
15929117
CTD Disgenet
METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA
250790C4285231
CYB5A Unknown — Disgenet HPO
METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE
250800MONDO:0009606
CYB5R3 Unknown
10874300 15744830 18973815 2107882 24450884 26611738 29111436 36441026 7718898 8874222
ClinGen GWAS catalog HPO
METHEMOGLOBINEMIA TYPE 4
MONDO:0009605
CYB5A Causal
20080843 20430864 22170710 25613900 26974035 32051920 33626548 33753170 34610701 36441026 8168836
ClinGen ClinVar GWAS catalog
METHEMOGLOBINEMIA TYPE IV
MESH:C567102
CYB5A Unknown — CTD
METHEMOGLOBINEMIA, ALPHA TYPE
617973C4693798MONDO:0020835
HBA1 Causal
10477710 11747442 23715323 25931326 6644819
ClinGen ClinVar Disgenet HPO
HBA2 Unknown
11747442 21637412 23715323 25031065 25079170 25725047 31269924 31327183 4521212 6644819 7745837
ClinGen Disgenet
METHEMOGLOBINEMIA, ALPHA-GLOBIN TYPE
C1841414
HBA1 Unknown — Disgenet
METHEMOGLOBINEMIA, BETA TYPE
617971
HBB Causal — ClinVar HPO
METHEMOGLOBINEMIA, TYPE I
C2749559
CYB5R3 Causal — Disgenet
METHEMOGLOBINEMIA, TYPE II
C2749560
CYB5R3 Causal — Disgenet