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: 89
Gene Symbol: ACTN3
ACTN3
actinin alpha 3 (gene/pseudogene) 0.663 0.500
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype 0.100 None 1.000 10 1 2005 2019
Entrez Id: 100288687
Gene Symbol: DUX4
DUX4
double homeobox 4 0.604 0.500
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype 0.020 None 1.000 2 0 2012 2017
Entrez Id: 283120
Gene Symbol: H19
H19
H19 imprinted maternally expressed transcript 0.494 0.923
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype 0.010 None 1.000 1 0 2017 2017
Entrez Id: 406938
Gene Symbol: MIR146A
MIR146A
microRNA 146a 0.398 0.885
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype 0.010 None < 0.001 1 0 2019 2019
Entrez Id: 406989
Gene Symbol: MIR206
MIR206
microRNA 206 0.477 0.846
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype 0.010 None 1.000 1 0 2018 2018
Entrez Id: 407008
Gene Symbol: MIR223
MIR223
microRNA 223 0.433 0.808
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype 0.010 None 1.000 1 0 2012 2012
Entrez Id: 407035
Gene Symbol: MIR31
MIR31
microRNA 31 0.471 0.769
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4184
Gene Symbol: SMCP
SMCP
sperm mitochondria associated cysteine rich protein 0.621 0.692
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype 0.010 None 1.000 1 0 2012 2012
Entrez Id: 442890
Gene Symbol: MIR133B
MIR133B
microRNA 133b 0.555 0.808
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype 0.010 None 1.000 1 0 2018 2018
Entrez Id: 470
Gene Symbol: ATHS
ATHS
atherosclerosis susceptibility (lipoprotein associated) 0.551 0.769
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
neurofilament light 0.488 0.769
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype 0.020 None 1.000 2 0 2017 2017
Entrez Id: 6476
Gene Symbol: SI
SI
sucrase-isomaltase 0.569 0.692 3.9E-60
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype 0.010 None 1.000 1 0 2018 2018
Entrez Id: 26509
Gene Symbol: MYOF
MYOF
myoferlin 0.691 0.538 1.5E-54
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 129446
Gene Symbol: XIRP2
XIRP2
xin actin binding repeat containing 2 0.821 0.308 2.1E-52
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype 0.010 None 1.000 1 0 2013 2013
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype 0.010 None 1.000 1 0 2016 2016
Entrez Id: 8972
Gene Symbol: MGAM
MGAM
maltase-glucoamylase 0.592 0.615 1.0E-35
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype 0.010 None 1.000 1 0 2018 2018
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
dysferlin 0.582 0.692 3.7E-33
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype 0.030 None 1.000 3 0 2018 2019
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype 0.030 None 1.000 3 1 2012 2017
Entrez Id: 824
Gene Symbol: CAPN2
CAPN2
calpain 2 0.590 0.692 3.5E-22
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype 0.010 None 1.000 1 0 2002 2002
Entrez Id: 55226
Gene Symbol: NAT10
NAT10
N-acetyltransferase 10 0.536 0.769 4.1E-22
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 55034
Gene Symbol: MOCOS
MOCOS
molybdenum cofactor sulfurase 0.617 0.654 1.6E-19
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype 0.010 None 1.000 1 0 2012 2012
Entrez Id: 2875
Gene Symbol: GPT
GPT
glutamic--pyruvic transaminase 0.403 0.923 3.6E-19
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype 0.010 None 1.000 1 0 2018 2018
Entrez Id: 124872
Gene Symbol: B4GALNT2
B4GALNT2
beta-1,4-N-acetyl-galactosaminyltransferase 2 0.751 0.385 1.7E-17
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4318
Gene Symbol: MMP9
MMP9
matrix metallopeptidase 9 0.305 0.923 1.9E-17
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype 0.010 None 1.000 1 0 2017 2017