Source: ALL

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: 10280
Gene Symbol: SIGMAR1
SIGMAR1
sigma non-opioid intracellular receptor 1 0.544 0.808 0.17
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype 0.120 None 1.000 2 0 2016 2018
Entrez Id: 23064
Gene Symbol: SETX
SETX
senataxin 0.570 0.731 0.95
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype 0.120 None 1.000 2 0 2002 2009
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
cytochrome P450 family 27 subfamily A member 1 0.538 0.731 5.3E-19
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype 0.110 None 1.000 1 0 2019 2019
Entrez Id: 4001
Gene Symbol: LMNB1
LMNB1
lamin B1 0.564 0.731 0.55
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype 0.110 None 1.000 1 0 2015 2015
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
BSCL2 lipid droplet biogenesis associated, seipin 0.545 0.692 1.1E-09
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype 0.110 None 1.000 1 1 2015 2015
Entrez Id: 57462
Gene Symbol: MYORG
MYORG
myogenesis regulating glycosidase (putative) 0.805 0.269 1.1E-11
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype 0.100 None 0 0
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
coenzyme Q8A 0.674 0.385 9.3E-11
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype 0.100 None 0 0
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
mutL homolog 1 0.399 0.808 3.4E-05
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype 0.100 None 0 0
Entrez Id: 5696
Gene Symbol: PSMB8
PSMB8
proteasome 20S subunit beta 8 0.533 0.808 2.2E-02
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype 0.100 None 0 0
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.537 0.538 1.9E-20
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype 0.100 None 0 0
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype 0.100 None 0 0
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
solute carrier family 12 member 5 0.570 0.654 1.00
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype 0.100 None 0 0
Entrez Id: 6224
Gene Symbol: RPS20
RPS20
ribosomal protein S20 0.610 0.692 2.1E-02
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype 0.100 None 0 0
Entrez Id: 6315
Gene Symbol: ATXN8OS
ATXN8OS
ATXN8 opposite strand lncRNA 0.650 0.423
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype 0.100 None 0 0
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
sodium voltage-gated channel beta subunit 1 0.575 0.538 0.10
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype 0.100 None 0 0
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype 0.100 None 0 0
Entrez Id: 64218
Gene Symbol: SEMA4A
SEMA4A
semaphorin 4A 0.569 0.692 1.8E-05
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype 0.100 None 0 0
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype 0.100 None 0 0
Entrez Id: 5521
Gene Symbol: PPP2R2B
PPP2R2B
protein phosphatase 2 regulatory subunit Bbeta 0.601 0.577 0.98
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype 0.100 None 0 0
Entrez Id: 54832
Gene Symbol: VPS13C
VPS13C
vacuolar protein sorting 13 homolog C 0.653 0.346 7.6E-49
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype 0.100 None 0 0
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
transmembrane protein 106B 0.590 0.462 0.33
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype 0.100 None 0 0
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
mutS homolog 2 0.406 0.808 0.90
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype 0.100 None 0 0
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
alpha-N-acetylgalactosaminidase 0.647 0.538 1.8E-11
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype 0.100 None 0 0
Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2
NADH:ubiquinone oxidoreductase core subunit S2 0.601 0.654 1.4E-03
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype 0.100 None 0 0