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: 389072
Gene Symbol: PLEKHM3
PLEKHM3
pleckstrin homology domain containing M3 0.861 0.231 1.0E-04
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4569
Gene Symbol: TRNM
TRNM
tRNA 0.931 0.231
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2018 2018
Entrez Id: 56341
Gene Symbol: PRMT8
PRMT8
protein arginine methyltransferase 8 0.743 0.231 0.98
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2018 2018
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: 51347
Gene Symbol: TAOK3
TAOK3
TAO kinase 3 0.792 0.269 1.00
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2017 2017
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: 10494
Gene Symbol: STK25
STK25
serine/threonine kinase 25 0.700 0.346 5.2E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2017 2017
Entrez Id: 26092
Gene Symbol: TOR1AIP1
TOR1AIP1
torsin 1A interacting protein 1 0.729 0.346 1.3E-09
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.110 None 1.000 1 0 2020 2020
Entrez Id: 342035
Gene Symbol: GLDN
GLDN
gliomedin 0.769 0.346 2.6E-13
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2014 2014
Entrez Id: 4626
Gene Symbol: MYH8
MYH8
myosin heavy chain 8 0.682 0.385 2.0E-51
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.020 None 1.000 2 0 2007 2008
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1
adenylosuccinate synthase 1 0.722 0.385 2.8E-07
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2017 2017
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: 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: 9748
Gene Symbol: SLK
SLK
STE20 like kinase 0.729 0.385 0.37
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2017 2017
Entrez Id: 8106
Gene Symbol: PABPN1
PABPN1
poly(A) binding protein nuclear 1 0.674 0.423 0.39
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.030 None 1.000 3 0 2013 2014
Entrez Id: 1120
Gene Symbol: CHKB
CHKB
choline kinase beta 0.663 0.423 3.8E-07
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2016 2016
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
chloride voltage-gated channel 1 0.641 0.423 3.3E-20
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.110 None 1.000 1 0 2012 2012
Entrez Id: 23114
Gene Symbol: NFASC
NFASC
neurofascin 0.682 0.423 1.00
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 23515
Gene Symbol: MORC3
MORC3
MORC family CW-type zinc finger 3 0.743 0.423 1.00
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.110 None 1.000 1 0 2006 2006
Entrez Id: 85365
Gene Symbol: ALG2
ALG2
ALG2 alpha-1,3/1,6-mannosyltransferase 0.670 0.423 8.0E-05
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2014 2014
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: 10345
Gene Symbol: TRDN
TRDN
triadin 0.691 0.462 8.4E-22
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2017 2017
Entrez Id: 10616
Gene Symbol: RBCK1
RBCK1
RANBP2-type and C3HC4-type zinc finger containing 1 0.736 0.462 0.13
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2013 2013
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.010 None 1.000 1 0 2014 2014