Source: ALL
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1737
Gene Symbol: DLAT
DLAT 		P10515 dihydrolipoamide S-acetyltransferase 93 0.576 0.731 2.3E-08 0.100 None 0 0
Entrez Id: 1140
Gene Symbol: CHRNB1
CHRNB1 		P11230 cholinergic receptor nicotinic beta 1 subunit Ion channel 54 0.700 0.462 5.0E-08 0.100 None 0 0
Entrez Id: 2248
Gene Symbol: FGF3
FGF3 		P11487 fibroblast growth factor 3 Signaling 200 0.505 0.808 9.3E-05 0.100 None 0 0
Entrez Id: 3035
Gene Symbol: HARS1
HARS1 		P12081 histidyl-tRNA synthetase 1 Enzyme 127 0.569 0.808 2.4E-06 0.100 None 0 0
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1 		P12109 collagen type VI alpha 1 chain Receptor 164 0.587 0.731 1.00 0.100 None 0 2
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		P12883 myosin heavy chain 7 257 0.516 0.692 4.2E-16 0.100 None 0 0
Entrez Id: 7138
Gene Symbol: TNNT1
TNNT1 		P13805 troponin T1, slow skeletal type Cellular structure 60 0.633 0.577 7.0E-14 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		P13942 collagen type XI alpha 2 chain 399 0.435 0.846 0.70 0.100 None 0 0
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		P15735 phosphorylase kinase catalytic subunit gamma 2 Kinase 53 0.674 0.538 3.9E-03 0.100 None 0 0
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		P17405 sphingomyelin phosphodiesterase 1 Enzyme 247 0.499 0.885 3.9E-10 0.100 None 0 0
Entrez Id: 6872
Gene Symbol: TAF1
TAF1 		P21675 TATA-box binding protein associated factor 1 Kinase 139 0.581 0.808 1.00 0.100 None 0 0
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.100 None 0 2
Entrez Id: 4618
Gene Symbol: MYF6
MYF6 		P23409 myogenic factor 6 Transcription factor 46 0.691 0.423 4.1E-03 0.100 None 0 0
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A 		P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 104 0.588 0.577 0.98 0.100 None 0 0
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 202 0.554 0.731 1.3E-02 0.100 None 1.000 2 2 2004 2008
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A 		P38606 ATPase H+ transporting V1 subunit A Transporter 147 0.579 0.615 0.87 0.100 None 0 1
Entrez Id: 8260
Gene Symbol: NAA10
NAA10 		P41227 N-alpha-acetyltransferase 10, NatA catalytic subunit Enzyme 199 0.535 0.692 0.76 0.100 None 0 0
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3 		P42263 glutamate ionotropic receptor AMPA type subunit 3 Ion channel 127 0.566 0.692 1.00 0.100 None 1.000 1 1 2017 2017
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		P42345 mechanistic target of rapamycin kinase Kinase 960 0.343 0.885 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 5256
Gene Symbol: PHKA2
PHKA2 		P46019 phosphorylase kinase regulatory subunit alpha 2 Kinase 47 0.678 0.462 0.38 0.100 None 0 0
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		P49459 ubiquitin conjugating enzyme E2 A 96 0.623 0.692 0.81 0.100 None 0 0
Entrez Id: 3198
Gene Symbol: HOXA1
HOXA1 		P49639 homeobox A1 95 0.575 0.769 0.29 0.100 None 0 0
Entrez Id: 1785
Gene Symbol: DNM2
DNM2 		P50570 dynamin 2 Enzyme modulator 178 0.542 0.769 1.00 0.100 None 0 0
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.100 None 0 3
Entrez Id: 1186
Gene Symbol: CLCN7
CLCN7 		P51798 chloride voltage-gated channel 7 Ion channel 135 0.590 0.731 0.27 0.100 None 0 0