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: 595
Gene Symbol: CCND1
CCND1
cyclin D1 0.344 0.923 0.89
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 1950
Gene Symbol: EGF
EGF
epidermal growth factor 0.357 0.923 8.5E-17
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
superoxide dismutase 1 0.379 0.962 0.18
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 5444
Gene Symbol: PON1
PON1
paraoxonase 1 0.409 0.885 9.8E-11
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
sequestosome 1 0.428 0.885 8.6E-04
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
ATP binding cassette subfamily B member 6 (Langereis blood group) 0.431 0.885 8.6E-19
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
menin 1 0.444 0.808 1.00
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
proline rich transmembrane protein 2 0.448 0.808 0.58
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
PPARG coactivator 1 alpha 0.453 0.885 1.00
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4
erb-b2 receptor tyrosine kinase 4 0.455 0.846 1.00
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 8074
Gene Symbol: FGF23
FGF23
fibroblast growth factor 23 0.460 0.731 3.1E-02
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 7415
Gene Symbol: VCP
VCP
valosin containing protein 0.469 0.923 1.00
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 2521
Gene Symbol: FUS
FUS
FUS RNA binding protein 0.470 0.846 1.00
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
succinate dehydrogenase complex subunit D 0.472 0.885 0.34
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
succinate dehydrogenase complex iron sulfur subunit B 0.474 0.846 2.4E-04
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
phospholipase A2 group VI 0.476 0.846 2.5E-10
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2
ataxin 2 0.482 0.808 0.85
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.110 None 1.000 0 0 2007 2007
Entrez Id: 6616
Gene Symbol: SNAP25
SNAP25
synaptosome associated protein 25 0.489 0.808 0.99
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
tropomyosin 3 0.490 0.808 6.7E-03
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
TAR DNA binding protein 0.493 0.808 0.99
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
solute carrier family 12 member 3 0.493 0.808 3.0E-32
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
C9orf72-SMCR8 complex subunit 0.496 0.769 1.1E-06
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0