Source: ALL

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: 3141
Gene Symbol: HLCS
HLCS 		holocarboxylase synthetase 0.650 0.654 1.9E-08
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4 		hydroxysteroid 17-beta dehydrogenase 4 0.546 0.654 2.4E-10
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		laminin subunit alpha 2 0.553 0.692 2.4E-47
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4308
Gene Symbol: TRPM1
TRPM1 		transient receptor potential cation channel subfamily M member 1 0.626 0.462 1.6E-42
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 51305
Gene Symbol: KCNK9
KCNK9 		potassium two pore domain channel subfamily K member 9 0.615 0.577 0.96
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		synthesis of cytochrome C oxidase 2 0.479 0.846 7.5E-07
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		disease 0.010 None 1.000 1 0 2004 2004