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 0.800 definitive 1.000 70 140 1995 2019
Entrez Id: 1785
Gene Symbol: DNM2
DNM2 		P50570 dynamin 2 Enzyme modulator 178 0.542 0.769 1.00 0.350 None 1.000 6 0 2007 2018
Entrez Id: 274
Gene Symbol: BIN1
BIN1 		O00499 bridging integrator 1 163 0.550 0.692 0.78 0.310 None 1.000 2 0 2007 2009
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.300 None 1.000 1 0 2007 2007
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		P12883 myosin heavy chain 7 257 0.516 0.692 4.2E-16 0.300 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		P68133 actin alpha 1, skeletal muscle Cellular structure 217 0.540 0.769 1.1E-06 0.300 None 0 0
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		Q13586 stromal interaction molecule 1 247 0.501 0.808 0.78 0.300 None 0 0
Entrez Id: 64419
Gene Symbol: MTMR14
MTMR14 		Q8NCE2 myotubularin related protein 14 61 0.674 0.615 1.4E-07 0.300 None 0 0
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		Q9NZV5 selenoprotein N 147 0.575 0.692 9.8E-10 0.300 None 0 0
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		P07951 tropomyosin 2 Cellular structure 228 0.530 0.654 2.4E-04 0.300 None 0 0
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		P06753 tropomyosin 3 Cellular structure 297 0.490 0.808 6.7E-03 0.300 None 0 0
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: 124093
Gene Symbol: CCDC78
CCDC78 		A2IDD5 coiled-coil domain containing 78 18 0.760 0.115 3.0E-31 0.300 None 0 0
Entrez Id: 1674
Gene Symbol: DES
DES 		P17661 desmin 330 0.460 0.846 8.8E-03 0.040 None 1.000 4 0 1995 2017
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2 		Q13614 myotubularin related protein 2 Enzyme 50 0.659 0.538 3.0E-07 0.040 None 1.000 4 0 2003 2018
Entrez Id: 113540
Gene Symbol: CMTM1
CMTM1 		Q8IZ96 CKLF like MARVEL transmembrane domain containing 1 14 0.769 0.269 2.2E-03 0.020 None 1.000 2 0 2017 2020
Entrez Id: 8776
Gene Symbol: MTMR1
MTMR1 		Q13613 myotubularin related protein 1 Enzyme 5 0.839 0.115 1.00 0.020 None 1.000 2 0 1998 2018
Entrez Id: 7431
Gene Symbol: VIM
VIM 		P08670 vimentin 644 0.372 0.846 0.71 0.010 None 1.000 1 0 1995 1995
Entrez Id: 5967
Gene Symbol: REG1A
REG1A 		P05451 regenerating family member 1 alpha 264 0.467 0.846 1.3E-05 0.010 None 1.000 1 0 2019 2019
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: 10076
Gene Symbol: PTPRU
PTPRU 		Q92729 protein tyrosine phosphatase receptor type U Enzyme 88 0.581 0.654 0.39 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2556
Gene Symbol: GABRA3
GABRA3 		P34903 gamma-aminobutyric acid type A receptor subunit alpha3 Ion channel 81 0.636 0.577 3.9E-02 0.010 None 1.000 1 0 1996 1996
Entrez Id: 3423
Gene Symbol: IDS
IDS 		P22304 iduronate 2-sulfatase 136 0.559 0.769 0.95 0.010 None 1.000 1 0 1996 1996
Entrez Id: 4154
Gene Symbol: MBNL1
MBNL1 		Q9NR56 muscleblind like splicing regulator 1 Nucleic acid binding 52 0.650 0.615 0.71 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