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: 26224
Gene Symbol: FBXL3
FBXL3 		F-box and leucine rich repeat protein 3 0.736 0.462 0.98
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.400 strong 1.000 1 0 2019 2019
Entrez Id: 9775
Gene Symbol: EIF4A3
EIF4A3 		eukaryotic translation initiation factor 4A3 0.608 0.500 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.400 strong 1.000 1 0 1998 1998
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.400 strong 1.000 1 0 2017 2017
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.400 strong 1.000 1 0 2018 2018
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.400 None 1.000 1 0 2015 2015
Entrez Id: 51780
Gene Symbol: KDM3B
KDM3B 		lysine demethylase 3B 0.686 0.500 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS 		insulin like growth factor binding protein acid labile subunit 0.511 0.846 5.4E-11
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.300 None 1.000 1 0 2004 2004
Entrez Id: 84068
Gene Symbol: SLC10A7
SLC10A7 		solute carrier family 10 member 7 0.711 0.269 2.0E-05
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 9922
Gene Symbol: IQSEC1
IQSEC1 		IQ motif and Sec7 domain ArfGEF 1 0.736 0.346 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2 		solute carrier family 2 member 2 0.572 0.692 3.4E-08
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.300 strong 1.000 1 0 2012 2012