Source: CURATED

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: 10599
Gene Symbol: SLCO1B1
SLCO1B1
solute carrier organic anion transporter family member 1B1 0.538 0.731 1.1E-21
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.500 None 0.938 5 1 2004 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.500 None 1.000 1 8 2002 2019
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
carnitine palmitoyltransferase 2 0.542 0.769 4.6E-10
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.440 None 1.000 1 0 1999 2018
Entrez Id: 2673
Gene Symbol: GFPT1
GFPT1
glutamine--fructose-6-phosphate transaminase 1 0.612 0.654 0.90
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.420 None 1.000 1 0 2018 2019
Entrez Id: 5837
Gene Symbol: PYGM
PYGM
glycogen phosphorylase, muscle associated 0.650 0.577 2.0E-13
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.420 None 1.000 1 0 2000 2018
Entrez Id: 79912
Gene Symbol: PYROXD1
PYROXD1
pyridine nucleotide-disulphide oxidoreductase domain 1 0.769 0.269 6.3E-09
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.410 strong 1.000 1 1 2016 2019
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
multiple EGF like domains 10 0.682 0.462 0.39
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.400 None 1.000 1 0 2011 2019
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
receptor associated protein of the synapse 0.593 0.731 1.5E-03
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.400 None 1.000 1 2 1998 1998
Entrez Id: 4549
Gene Symbol: RNR1
RNR1
s-rRNA 0.626 0.769
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.400 None 1.000 1 0 2002 2002
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.370 strong 1.000 1 0 2007 2020
Entrez Id: 3156
Gene Symbol: HMGCR
HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase 0.529 0.692 1.00
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.370 None 1.000 1 0 1995 2019
Entrez Id: 3553
Gene Symbol: IL1B
IL1B
interleukin 1 beta 0.276 0.962 0.13
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.320 None 1.000 1 0 1997 2004
Entrez Id: 270
Gene Symbol: AMPD1
AMPD1
adenosine monophosphate deaminase 1 0.573 0.692 1.9E-21
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.310 None 1.000 2 0 2000 2008
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
SMAD family member 4 0.401 0.808 1.00
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.310 None 1.000 1 0 2011 2017
Entrez Id: 4128
Gene Symbol: MAOA
MAOA
monoamine oxidase A 0.465 0.769 1.00
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.310 None 1.000 1 0 2005 2005
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.310 None 1.000 1 0 2010 2019
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2
troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.310 None 1.000 1 0 2006 2009
Entrez Id: 10367
Gene Symbol: MICU1
MICU1
mitochondrial calcium uptake 1 0.638 0.654 1.9E-13
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.310 None 1.000 1 0 2014 2014
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA
CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.310 None 1.000 1 0 2012 2019
Entrez Id: 1440
Gene Symbol: CSF3
CSF3
colony stimulating factor 3 0.377 0.885 0.38
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.310 None 1.000 1 0 1995 2017
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
peroxisome proliferator activated receptor alpha 0.432 0.885 3.0E-02
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.310 None 1.000 1 0 2010 2010
Entrez Id: 440275
Gene Symbol: EIF2AK4
EIF2AK4
eukaryotic translation initiation factor 2 alpha kinase 4 0.603 0.577 1.2E-15
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.300 None 1.000 1 0 2011 2011
Entrez Id: 383
Gene Symbol: ARG1
ARG1
arginase 1 0.476 0.846 3.6E-04
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.300 None 1.000 1 0 2011 2011
Entrez Id: 3630
Gene Symbol: INS
INS
insulin 0.445 0.923 0.30
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.300 None 1.000 1 0 1979 1979
Entrez Id: 3363
Gene Symbol: HTR7
HTR7
5-hydroxytryptamine receptor 7 0.592 0.500 4.5E-02
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.300 None 1.000 1 0 2007 2007