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: 4534
Gene Symbol: MTM1
MTM1 		Q13496 myotubularin 1 Enzyme 125 0.573 0.731 1.00 0.700 None 0.957 47 2 1991 2019
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2 		Q13614 myotubularin related protein 2 Enzyme 50 0.659 0.538 3.0E-07 0.050 None 1.000 5 0 2002 2019
Entrez Id: 1103
Gene Symbol: CHAT
CHAT 		P28329 choline O-acetyltransferase Enzyme 230 0.520 0.808 5.6E-11 0.010 None 1.000 1 0 2012 2012
Entrez Id: 43
Gene Symbol: ACHE
ACHE 		P22303 acetylcholinesterase (Cartwright blood group) Enzyme 418 0.445 0.885 1.00 0.010 None 1.000 1 0 2011 2011
Entrez Id: 54545
Gene Symbol: MTMR12
MTMR12 		Q9C0I1 myotubularin related protein 12 Enzyme 5 0.861 0.115 1.00 0.010 None 1.000 1 0 2013 2013
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1 		O95672 endothelin converting enzyme like 1 Enzyme 60 0.638 0.308 4.8E-13 0.010 None 1.000 1 0 2015 2015
Entrez Id: 1785
Gene Symbol: DNM2
DNM2 		P50570 dynamin 2 Enzyme modulator 178 0.542 0.769 1.00 0.900 limited 0.982 56 9 2005 2019
Entrez Id: 905
Gene Symbol: CCNT2
CCNT2 		O60583 cyclin T2 Enzyme modulator 7 0.931 0.115 0.93 0.010 None 1.000 1 0 2001 2001
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.390 None 1.000 9 0 2007 2019
Entrez Id: 4284
Gene Symbol: MIP
MIP 		P30301 major intrinsic protein of lens fiber Ion channel 181 0.507 0.846 3.1E-02 0.010 None 1.000 1 0 2010 2010
Entrez Id: 84876
Gene Symbol: ORAI1
ORAI1 		Q96D31 ORAI calcium release-activated calcium modulator 1 Ion channel 195 0.520 0.808 1.9E-05 0.300 None 0 0
Entrez Id: 10290
Gene Symbol: SPEG
SPEG 		Q15772 striated muscle enriched protein kinase Kinase 52 0.686 0.385 0.92 0.040 None 1.000 4 0 2014 2020
Entrez Id: 7273
Gene Symbol: TTN
TTN 		Q8WZ42 titin Kinase 366 0.470 0.885 2.6E-96 0.110 None 1.000 3 2 2012 2015
Entrez Id: 1760
Gene Symbol: DMPK
DMPK 		Q09013 DM1 protein kinase Kinase 96 0.603 0.692 3.8E-02 0.010 None 1.000 1 0 2014 2014
Entrez Id: 6517
Gene Symbol: SLC2A4
SLC2A4 		P14672 solute carrier family 2 member 4 Transporter 158 0.528 0.769 4.7E-05 0.010 None 1.000 1 0 2017 2017