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: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
disease 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
alpha tocopherol transfer protein 0.612 0.577 1.4E-03
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
disease 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 2395
Gene Symbol: FXN
FXN
frataxin 0.510 0.654 0.34
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
disease 0.360 strong 1.000 1 0 1981 2019
Entrez Id: 23064
Gene Symbol: SETX
SETX
senataxin 0.570 0.731 0.95
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
disease 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
disease 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
disease 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
wolframin ER transmembrane glycoprotein 0.528 0.846 1.6E-38
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
disease 0.300 strong 1.000 1 0 2018 2018