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: 11342
Gene Symbol: RNF13
RNF13 		ring finger protein 13 0.722 0.346 4.0E-04
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype 0.400 moderate 1.000 1 0 2019 2019
Entrez Id: 51227
Gene Symbol: PIGP
PIGP 		phosphatidylinositol glycan anchor biosynthesis class P 0.633 0.462 1.9E-03
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype 0.400 moderate 1.000 1 0 2019 2019
Entrez Id: 2222
Gene Symbol: FDFT1
FDFT1 		farnesyl-diphosphate farnesyltransferase 1 0.621 0.615 4.1E-15
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4 		trafficking protein particle complex 4 0.805 0.308 4.1E-06
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 6844
Gene Symbol: VAMP2
VAMP2 		vesicle associated membrane protein 2 0.650 0.462 0.89
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype 0.300 strong 1.000 1 0 2019 2019