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: 51324
Gene Symbol: SPG21
SPG21
SPG21 abhydrolase domain containing, maspardin 0.695 0.500 6.6E-04
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 0 0
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
L1 cell adhesion molecule 0.475 0.769 1.00
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 0 0
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
MRE11 homolog, double strand break repair nuclease 0.527 0.808 1.3E-12
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: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
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: 5191
Gene Symbol: PEX7
PEX7
peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 0 0
Entrez Id: 5264
Gene Symbol: PHYH
PHYH
phytanoyl-CoA 2-hydroxylase 0.659 0.577 2.4E-06
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 0 0
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
proteolipid protein 1 0.543 0.769 0.93
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 moderate 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: 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: 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: 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
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: 3736
Gene Symbol: KCNA1
KCNA1
potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 0 0
Entrez Id: 118813
Gene Symbol: ZFYVE27
ZFYVE27
zinc finger FYVE-type containing 27 0.805 0.308 1.1E-09
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 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: 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: 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: 23111
Gene Symbol: SPART
SPART
spartin 0.588 0.654 3.0E-07
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 0 0
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
zinc finger FYVE-type containing 26 0.636 0.615 4.7E-23
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 0 0
Entrez Id: 2395
Gene Symbol: FXN
FXN
frataxin 0.510 0.654 0.34
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 0 0
Entrez Id: 26278
Gene Symbol: SACS
SACS
sacsin molecular chaperone 0.606 0.654 1.1E-23
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 0 0
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
inositol 1,4,5-trisphosphate receptor type 1 0.534 0.846 1.00
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 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