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: 1000
Gene Symbol: CDH2
CDH2 		cadherin 2 0.535 0.731 0.99
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.300 moderate 1.000 1 0 2007 2007
Entrez Id: 10297
Gene Symbol: APC2
APC2 		APC regulator of WNT signaling pathway 2 0.582 0.654 1.00
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.300 None 1.000 1 0 2012 2012
Entrez Id: 22884
Gene Symbol: WDR37
WDR37 		WD repeat domain 37 0.751 0.231 0.57
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 23291
Gene Symbol: FBXW11
FBXW11 		F-box and WD repeat domain containing 11 0.626 0.462 0.98
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 4081
Gene Symbol: MAB21L1
MAB21L1 		mab-21 like 1 0.736 0.192 0.29
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.300 strong 1.000 1 0 2014 2014
Entrez Id: 9969
Gene Symbol: MED13
MED13 		mediator complex subunit 13 0.711 0.538 1.00
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.300 moderate 1.000 1 0 2018 2018