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: 51053
Gene Symbol: GMNN
GMNN 		geminin DNA replication inhibitor 0.554 0.808 0.11
CUI: C1855514
Disease: Severe failure to thrive
Severe failure to thrive 		phenotype 0.100 None 1.000 1 1 2015 2015
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C1855514
Disease: Severe failure to thrive
Severe failure to thrive 		phenotype 0.100 None 0 2
Entrez Id: 5230
Gene Symbol: PGK1
PGK1 		phosphoglycerate kinase 1 0.542 0.769 0.77
CUI: C1855514
Disease: Severe failure to thrive
Severe failure to thrive 		phenotype 0.100 None 0 1
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C1855514
Disease: Severe failure to thrive
Severe failure to thrive 		phenotype 0.100 None 0 1