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: 6261
Gene Symbol: RYR1
RYR1
P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.110 None 1.000 1 0 2014 2014
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
P07510 cholinergic receptor nicotinic gamma subunit Ion channel 124 0.573 0.692 3.3E-19 0.010 None 1.000 1 0 2009 2009
Entrez Id: 177
Gene Symbol: AGER
AGER
Q15109 advanced glycosylation end-product specific receptor Receptor 450 0.420 0.885 6.4E-16 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1305
Gene Symbol: COL13A1
COL13A1
Q5TAT6 collagen type XIII alpha 1 chain 139 0.608 0.654 3.7E-14 0.100 None 0 0
Entrez Id: 8292
Gene Symbol: COLQ
COLQ
Q9Y215 collagen like tail subunit of asymmetric acetylcholinesterase 92 0.628 0.654 7.9E-14 0.100 None 0 0
Entrez Id: 9581
Gene Symbol: PREPL
PREPL
Q4J6C6 prolyl endopeptidase like 58 0.644 0.538 2.2E-13 0.010 None 1.000 1 0 2014 2014
Entrez Id: 33
Gene Symbol: ACADL
ACADL
P28330 acyl-CoA dehydrogenase long chain Enzyme 46 0.736 0.462 1.7E-12 0.100 None 0 0
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
Q15149 plectin Cellular structure 218 0.523 0.808 8.3E-12 0.100 None 0 0
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
P28329 choline O-acetyltransferase Enzyme 230 0.520 0.808 5.6E-11 0.110 None 1.000 1 0 2014 2014
Entrez Id: 1145
Gene Symbol: CHRNE
CHRNE
Q04844 cholinergic receptor nicotinic epsilon subunit Ion channel 97 0.636 0.577 4.7E-09 0.110 None 1.000 1 0 2015 2015
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
P02708 cholinergic receptor nicotinic alpha 1 subunit Ion channel 109 0.615 0.577 2.1E-08 0.100 None 0 0
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
O15146 muscle associated receptor tyrosine kinase Kinase 146 0.570 0.769 4.2E-08 0.010 None 1.000 1 0 2019 2019
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
Q9H845 acyl-CoA dehydrogenase family member 9 Enzyme 49 0.722 0.269 4.5E-08 0.100 None 0 0
Entrez Id: 375790
Gene Symbol: AGRN
AGRN
O00468 agrin 124 0.626 0.538 5.5E-07 0.110 None 1.000 1 0 2014 2014
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
Q9Y5P6 GDP-mannose pyrophosphorylase B 158 0.578 0.538 8.4E-07 0.100 None 0 0
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
O75096 LDL receptor related protein 4 151 0.568 0.692 1.4E-06 0.020 None 1.000 2 0 2014 2017
Entrez Id: 55068
Gene Symbol: ENOX1
ENOX1
Q8TC92 ecto-NOX disulfide-thiol exchanger 1 Enzyme 15 0.760 0.538 2.3E-06 0.010 None 1.000 1 0 2012 2012
Entrez Id: 1798
Gene Symbol: DPAGT1
DPAGT1
Q9H3H5 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 Enzyme 94 0.621 0.538 1.1E-05 0.110 None 1.000 1 0 2014 2014
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
P22607 fibroblast growth factor receptor 3 Kinase 654 0.391 0.846 1.6E-05 0.010 None 1.000 1 0 1979 1979
Entrez Id: 85365
Gene Symbol: ALG2
ALG2
Q9H553 ALG2 alpha-1,3/1,6-mannosyltransferase 70 0.670 0.423 8.0E-05 0.100 None 0 0
Entrez Id: 389072
Gene Symbol: PLEKHM3
PLEKHM3
Q6ZWE6 pleckstrin homology domain containing M3 8 0.861 0.231 1.0E-04 0.010 None 1.000 1 0 2018 2018
Entrez Id: 285489
Gene Symbol: DOK7
DOK7
Q18PE1 docking protein 7 108 0.615 0.615 1.0E-04 0.140 None 1.000 4 0 2008 2014
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
P02533 keratin 14 173 0.530 0.731 2.0E-04 0.100 None 0 0
Entrez Id: 199857
Gene Symbol: ALG14
ALG14
Q96F25 ALG14 UDP-N-acetylglucosaminyltransferase subunit 46 0.722 0.308 9.4E-04 0.100 None 0 0
Entrez Id: 6843
Gene Symbol: VAMP1
VAMP1
P23763 vesicle associated membrane protein 1 124 0.628 0.538 3.9E-03 0.100 None 0 0