Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
Methylenetetrahydrofolate reductase deficiency
disease 0.700 definitive 1.000 18 4 1991 2019
Entrez Id: 1581
Gene Symbol: CYP7A1
CYP7A1
cytochrome P450 family 7 subfamily A member 1 0.576 0.615 2.5E-04
Methylenetetrahydrofolate reductase deficiency
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 22807
Gene Symbol: IKZF2
IKZF2
IKAROS family zinc finger 2 0.656 0.500 0.99
Methylenetetrahydrofolate reductase deficiency
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6289
Gene Symbol: SAA2
SAA2
serum amyloid A2 0.568 0.731 2.7E-06
Methylenetetrahydrofolate reductase deficiency
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 9971
Gene Symbol: NR1H4
NR1H4
nuclear receptor subfamily 1 group H member 4 0.513 0.808 9.4E-04
Methylenetetrahydrofolate reductase deficiency
disease 0.010 None 1.000 1 0 2019 2019