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: 1786
Gene Symbol: DNMT1
DNMT1
DNA methyltransferase 1 0.438 0.759 1.00
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.441 0.690 0.99
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
atrophin 1 0.442 0.828 1.00
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 limited 0 0
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
X-ray repair cross complementing 1 0.449 0.828 4.8E-09
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 limited 1 0 2017 2017
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
prion protein 0.474 0.897 7.2E-04
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.479 0.655 1.00
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
glial fibrillary acidic protein 0.484 0.759 1.2E-06
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 51741
Gene Symbol: WWOX
WWOX
WW domain containing oxidoreductase 0.489 0.655 7.0E-16
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
proline rich transmembrane protein 2 0.491 0.793 0.57
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
fragile X mental retardation 1 0.492 0.690 0.69
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
phospholipase A2 group VI 0.494 0.724 2.8E-10
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
paired box 2 0.516 0.690 0.72
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 limited 0 0
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
microsomal triglyceride transfer protein 0.526 0.690 1.4E-05
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1
ubiquitin C-terminal hydrolase L1 0.527 0.759 0.99
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 limited 1 0 2013 2013
Entrez Id: 2395
Gene Symbol: FXN
FXN
frataxin 0.527 0.586 0.33
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.310 strong 1.000 0 0 1981 1981
Entrez Id: 5173
Gene Symbol: PDYN
PDYN
prodynorphin 0.528 0.414 1.3E-04
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.310 strong 1.000 0 0 2006 2006
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.534 0.552 1.00
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2
ataxin 2 0.534 0.621 0.94
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.330 1.000 0 0 2000 2013
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
NPC intracellular cholesterol transporter 1 0.536 0.690 2.8E-05
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
SPG7, paraplegin matrix AAA peptidase subunit 0.542 0.655 3.3E-35
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.310 strong 1.000 1 0 2015 2016
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
wolframin ER transmembrane glycoprotein 0.545 0.655 1.8E-38
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 410
Gene Symbol: ARSA
ARSA
arylsulfatase A 0.547 0.724 1.3E-11
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 5649
Gene Symbol: RELN
RELN
reelin 0.547 0.655 1.00
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 limited 0 0
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
patatin like phospholipase domain containing 6 0.550 0.655 5.9E-13
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0