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: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.020 None 1.000 2 0 2013 2016
Entrez Id: 162083
Gene Symbol: C16orf82
C16orf82 		Q7Z2V1 chromosome 16 open reading frame 82 18 0.743 0.346 0.010 None 1.000 1 0 2003 2003
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		P07196 neurofilament light 247 0.488 0.769 0.300 moderate 1.000 1 0 2014 2014
Entrez Id: 4892
Gene Symbol: NRAP
NRAP 		Q86VF7 nebulin related anchoring protein 6 0.861 0.115 3.3E-50 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4703
Gene Symbol: NEB
NEB 		P20929 nebulin 148 0.608 0.692 4.6E-41 0.500 strong 1.000 54 22 1998 2019
Entrez Id: 84700
Gene Symbol: MYO18B
MYO18B 		Q8IUG5 myosin XVIIIB 63 0.628 0.615 1.0E-31 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.050 None 1.000 5 1 2003 2012
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 188 0.537 0.538 1.9E-20 0.200 None 1.000 2 0 2013 2016
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-17 0.200 None 0 0
Entrez Id: 3679
Gene Symbol: ITGA7
ITGA7 		Q13683 integrin subunit alpha 7 111 0.588 0.654 4.3E-17 0.200 None 1.000 3 0 1997 2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		P12883 myosin heavy chain 7 257 0.516 0.692 4.2E-16 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7138
Gene Symbol: TNNT1
TNNT1 		P13805 troponin T1, slow skeletal type Cellular structure 60 0.633 0.577 7.0E-14 0.500 strong 1.000 10 1 2002 2019
Entrez Id: 390594
Gene Symbol: KBTBD13
KBTBD13 		C9JR72 kelch repeat and BTB domain containing 13 55 0.729 0.385 2.3E-10 0.040 None 1.000 4 1 2010 2020
Entrez Id: 7352
Gene Symbol: UCP3
UCP3 		P55916 uncoupling protein 3 Transporter 66 0.619 0.577 9.6E-10 0.010 None 1.000 1 0 2003 2003
Entrez Id: 9499
Gene Symbol: MYOT
MYOT 		Q9UBF9 myotilin 82 0.695 0.385 3.4E-08 0.010 None 1.000 1 0 2003 2003
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		Q0VAK6 leiomodin 3 Cellular structure 67 0.700 0.423 1.6E-07 0.050 None 1.000 5 0 2014 2019
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		O95452 gap junction protein beta 6 Cell-cell junction 176 0.528 0.808 1.7E-07 0.010 None 1.000 1 0 2012 2012
Entrez Id: 7140
Gene Symbol: TNNT3
TNNT3 		P45378 troponin T3, fast skeletal type Cellular structure 52 0.653 0.308 2.1E-07 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1120
Gene Symbol: CHKB
CHKB 		Q9Y259 choline kinase beta Kinase 48 0.663 0.423 3.8E-07 0.200 None 1.000 1 0 2006 2006
Entrez Id: 2218
Gene Symbol: FKTN
FKTN 		O75072 fukutin 211 0.511 0.692 8.7E-07 0.200 None 1.000 1 0 2009 2009
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		P68133 actin alpha 1, skeletal muscle Cellular structure 217 0.540 0.769 1.1E-06 0.400 strong 0.976 42 5 1999 2019
Entrez Id: 84665
Gene Symbol: MYPN
MYPN 		Q86TC9 myopalladin 114 0.612 0.615 2.6E-06 0.010 None 1.000 1 0 2017 2017
Entrez Id: 131377
Gene Symbol: KLHL40
KLHL40 		Q2TBA0 kelch like family member 40 43 0.722 0.385 3.5E-06 0.070 None 0.714 7 1 2013 2019
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		Q9H9S5 fukutin related protein 248 0.513 0.731 9.8E-06 0.200 None 1.000 2 0 2010 2016
Entrez Id: 1073
Gene Symbol: CFL2
CFL2 		Q9Y281 cofilin 2 73 0.659 0.500 6.4E-05 0.140 None 1.000 4 1 2008 2015