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: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
actinin alpha 4 0.508 0.808 1.00
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1
adenylosuccinate synthase 1 0.722 0.385 2.8E-07
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
AFG3 like matrix AAA peptidase subunit 2 0.588 0.462 5.3E-09
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 199857
Gene Symbol: ALG14
ALG14
ALG14 UDP-N-acetylglucosaminyltransferase subunit 0.722 0.308 9.4E-04
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 85365
Gene Symbol: ALG2
ALG2
ALG2 alpha-1,3/1,6-mannosyltransferase 0.670 0.423 8.0E-05
CUI: C1854494
Disease: Slow progression
Slow progression
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: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
aspartyl-tRNA synthetase 2, mitochondrial 0.638 0.577 9.8E-13
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 10159
Gene Symbol: ATP6AP2
ATP6AP2
ATPase H+ transporting accessory protein 2 0.525 0.769 0.87
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 476
Gene Symbol: ATP1A1
ATP1A1
ATPase Na+/K+ transporting subunit alpha 1 0.601 0.808 1.00
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 2583
Gene Symbol: B4GALNT1
B4GALNT1
beta-1,4-N-acetyl-galactosaminyltransferase 1 0.644 0.615 3.9E-05
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
BSCL2 lipid droplet biogenesis associated, seipin 0.545 0.692 1.1E-09
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 8913
Gene Symbol: CACNA1G
CACNA1G
calcium voltage-gated channel subunit alpha1 G 0.590 0.577 1.00
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 126129
Gene Symbol: CPT1C
CPT1C
carnitine palmitoyltransferase 1C 0.691 0.500 2.2E-09
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA
CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5
chloride voltage-gated channel 5 0.593 0.577 0.99
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 1120
Gene Symbol: CHKB
CHKB
choline kinase beta 0.663 0.423 3.8E-07
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
chromosome 19 open reading frame 12 0.641 0.615 0.34
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0