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: 123606
Gene Symbol: NIPA1
NIPA1
NIPA magnesium transporter 1 0.682 0.462 5.9E-03
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 1.000 2 0 2003 2005
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
patatin like phospholipase domain containing 6 0.533 0.769 1.9E-13
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 moderate 1.000 1 0 2014 2014
Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
neurotrophic receptor tyrosine kinase 1 0.422 0.808 2.0E-06
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.310 strong 1.000 1 0 2017 2019
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
WASH complex subunit 5 0.572 0.615 8.3E-18
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 1.000 1 0 2016 2016
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 strong 1.000 1 0 2010 2010
Entrez Id: 54840
Gene Symbol: APTX
APTX
aprataxin 0.590 0.500 4.0E-10
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 1.000 1 0 2001 2001
Entrez Id: 55775
Gene Symbol: TDP1
TDP1
tyrosyl-DNA phosphodiesterase 1 0.612 0.538 1.3E-17
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 limited 1.000 1 0 2002 2002
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
protein kinase C gamma 0.617 0.500 1.00
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
sodium voltage-gated channel alpha subunit 9 0.543 0.615 4.8E-19
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 strong 1.000 1 0 2015 2015
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
spastin 0.579 0.577 1.00
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
microsomal triglyceride transfer protein 0.505 0.846 1.0E-05
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 1.000 1 0 1985 1985
Entrez Id: 3300
Gene Symbol: DNAJB2
DNAJB2
DnaJ heat shock protein family (Hsp40) member B2 0.743 0.192 5.4E-05
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.320 strong 1.000 1 0 2014 2017
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
twinkle mtDNA helicase 0.516 0.692 3.2E-03
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 moderate 0 0
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
coenzyme Q8A 0.674 0.385 9.3E-11
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 0 0
Entrez Id: 2259
Gene Symbol: FGF14
FGF14
fibroblast growth factor 14 0.619 0.692 0.91
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 0 0
Entrez Id: 64374
Gene Symbol: SIL1
SIL1
SIL1 nucleotide exchange factor 0.584 0.731 1.2E-02
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 0 0
Entrez Id: 6507
Gene Symbol: SLC1A3
SLC1A3
solute carrier family 1 member 3 0.573 0.577 0.99
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 0 0
Entrez Id: 3748
Gene Symbol: KCNC3
KCNC3
potassium voltage-gated channel subfamily C member 3 0.705 0.462 0.21
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 0 0
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 0 0
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
SPG7 matrix AAA peptidase subunit, paraplegin 0.436 0.885 2.0E-36
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 moderate 0 0
Entrez Id: 146057
Gene Symbol: TTBK2
TTBK2
tau tubulin kinase 2 0.682 0.423 1.00
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 0 0
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
alpha tocopherol transfer protein 0.612 0.577 1.4E-03
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 0 0
Entrez Id: 785
Gene Symbol: CACNB4
CACNB4
calcium voltage-gated channel auxiliary subunit beta 4 0.653 0.231 3.1E-02
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 0 0