Source: BEFREE

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: 1756
Gene Symbol: DMD
DMD
dystrophin 0.423 0.923 1.00
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.500 None 0.919 36 0 1987 2019
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.440 None 1.000 4 0 1996 2019
Entrez Id: 2992
Gene Symbol: GYG1
GYG1
glycogenin 1 0.722 0.308 4.8E-12
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.410 None 1.000 1 0 2010 2018
Entrez Id: 270
Gene Symbol: AMPD1
AMPD1
adenosine monophosphate deaminase 1 0.573 0.692 1.9E-21
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.410 None 1.000 1 0 2000 2000
Entrez Id: 9499
Gene Symbol: MYOT
MYOT
myotilin 0.695 0.385 3.4E-08
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.310 None 1.000 1 0 2002 2004
Entrez Id: 6606
Gene Symbol: SMN1
SMN1
survival of motor neuron 1, telomeric 0.454 0.769 1.6E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.200 None 0.938 16 0 1996 2019
Entrez Id: 1674
Gene Symbol: DES
DES
desmin 0.460 0.846 8.8E-03
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.190 None 1.000 9 3 2000 2017
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
superoxide dismutase 1 0.379 0.962 0.18
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.170 None 1.000 7 2 1994 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.150 None 1.000 5 3 2004 2018
Entrez Id: 7415
Gene Symbol: VCP
VCP
valosin containing protein 0.469 0.923 1.00
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.150 None 1.000 5 1 2007 2017
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
electron transfer flavoprotein dehydrogenase 0.678 0.462 2.8E-13
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.130 None 1.000 3 0 2015 2019
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
filamin C 0.568 0.615 1.00
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.130 None 1.000 3 0 2012 2018
Entrez Id: 4621
Gene Symbol: MYH3
MYH3
myosin heavy chain 3 0.563 0.654 6.7E-21
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.120 None 1.000 2 0 2007 2008
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
major histocompatibility complex, class II, DR beta 1 0.333 0.923 1.1E-03
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.120 None 1.000 2 0 2010 2012
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.120 None 1.000 2 0 2017 2018
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.120 None 1.000 2 1 2003 2010
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
spectrin repeat containing nuclear envelope protein 1 0.511 0.846 3.2E-52
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.120 None 1.000 2 1 2017 2017
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.120 None 1.000 2 1 2005 2007
Entrez Id: 55863
Gene Symbol: TMEM126B
TMEM126B
transmembrane protein 126B 0.716 0.385 1.9E-04
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.110 None 1.000 1 0 2016 2016
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
acyl-CoA dehydrogenase family member 9 0.722 0.269 4.5E-08
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.110 None 1.000 1 0 2019 2019
Entrez Id: 7276
Gene Symbol: TTR
TTR
transthyretin 0.423 0.885 0.52
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.110 None 1.000 1 2 2005 2005
Entrez Id: 178
Gene Symbol: AGL
AGL
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.644 0.615 2.8E-27
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.110 None 1.000 1 0 2018 2018
Entrez Id: 4982
Gene Symbol: TNFRSF11B
TNFRSF11B
TNF receptor superfamily member 11b 0.422 0.808 0.16
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.110 None 1.000 1 0 2019 2019
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
fukutin 0.511 0.692 8.7E-07
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.110 None 1.000 1 0 2006 2006
Entrez Id: 8074
Gene Symbol: FGF23
FGF23
fibroblast growth factor 23 0.460 0.731 3.1E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.110 None 1.000 1 0 2019 2019