Source: CLINVAR

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: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
kynureninase 0.617 0.692 4.2E-18
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 473
Gene Symbol: RERE
RERE
arginine-glutamic acid dipeptide repeats 0.526 0.846 1.00
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
phenotype 0.100 None 0 1