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: 4703
Gene Symbol: NEB
NEB
nebulin 0.608 0.692 4.6E-41
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.120 None 1.000 0 0 2013 2014
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: 4534
Gene Symbol: MTM1
MTM1
myotubularin 1 0.573 0.731 1.00
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.110 None 1.000 0 0 2010 2010
Entrez Id: 5630
Gene Symbol: PRPH
PRPH
peripherin 0.623 0.462 4.8E-14
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
selenoprotein N 0.575 0.692 9.8E-10
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
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: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 5903
Gene Symbol: RANBP2
RANBP2
RAN binding protein 2 0.578 0.615 1.00
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
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: 60482
Gene Symbol: SLC5A7
SLC5A7
solute carrier family 5 member 7 0.597 0.654 1.5E-02
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: 6389
Gene Symbol: SDHA
SDHA
succinate dehydrogenase complex flavoprotein subunit A 0.517 0.731 2.6E-10
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: 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: 56203
Gene Symbol: LMOD3
LMOD3
leiomodin 3 0.700 0.423 1.6E-07
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 4750
Gene Symbol: NEK1
NEK1
NIMA related kinase 1 0.575 0.769 1.9E-25
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 486
Gene Symbol: FXYD2
FXYD2
FXYD domain containing ion transport regulator 2 0.780 0.346 0.11
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20
mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 5216
Gene Symbol: PFN1
PFN1
profilin 1 0.565 0.769 0.73
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
plectin 0.523 0.808 8.3E-12
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 54209
Gene Symbol: TREM2
TREM2
triggering receptor expressed on myeloid cells 2 0.519 0.769 3.3E-09
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: 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: 5445
Gene Symbol: PON2
PON2
paraoxonase 2 0.566 0.808 5.4E-05
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 5446
Gene Symbol: PON3
PON3
paraoxonase 3 0.663 0.692 2.1E-07
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0