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: 7355
Gene Symbol: SLC35A2
SLC35A2 		solute carrier family 35 member A2 0.525 0.808 0.72
CUI: C0853697
Disease: Neutrophil count decreased
Neutrophil count decreased 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B 		vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
CUI: C0853697
Disease: Neutrophil count decreased
Neutrophil count decreased 		phenotype 0.100 None 0 2
Entrez Id: 1991
Gene Symbol: ELANE
ELANE 		elastase, neutrophil expressed 0.447 0.846 1.2E-03
CUI: C0853697
Disease: Neutrophil count decreased
Neutrophil count decreased 		phenotype 0.100 None 0 1
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C0853697
Disease: Neutrophil count decreased
Neutrophil count decreased 		phenotype 0.100 None 0 1