Source: GENOMICS_ENGLAND

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: 23498
Gene Symbol: HAAO
HAAO
3-hydroxyanthranilate 3,4-dioxygenase 0.644 0.538 1.1E-08
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 55191
Gene Symbol: NADSYN1
NADSYN1
NAD synthetase 1 0.780 0.231 1.3E-16
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.300 strong 1.000 1 0 2020 2020
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
kynureninase 0.617 0.692 4.2E-18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.300 strong 1.000 1 0 2017 2017