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: 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: 2660
Gene Symbol: MSTN
MSTN
O14793 myostatin Signaling 159 0.528 0.731 0.51 0.020 None 1.000 2 0 2018 2019
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1
O43505 beta-1,4-glucuronyltransferase 1 84 0.590 0.538 6.9E-03 0.200 None 1.000 1 0 2012 2012
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41
O60662 kelch like family member 41 94 0.682 0.538 1.1E-04 0.340 None 1.000 4 1 2013 2019
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: 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: 9215
Gene Symbol: LARGE1
LARGE1
O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 182 0.526 0.654 0.99 0.200 None 1.000 1 0 2005 2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
P02545 lamin A/C 824 0.384 0.885 1.00 0.200 None 1.000 1 0 2012 2012
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
P06753 tropomyosin 3 Cellular structure 297 0.490 0.808 6.7E-03 0.500 None 0.947 19 3 1999 2013
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: 7169
Gene Symbol: TPM2
TPM2
P07951 tropomyosin 2 Cellular structure 228 0.530 0.654 2.4E-04 0.400 strong 0.941 17 2 2002 2018
Entrez Id: 7168
Gene Symbol: TPM1
TPM1
P09493 tropomyosin 1 Cellular structure 117 0.560 0.615 1.0E-03 0.100 None 0.941 17 2 1999 2013
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
P12814 actinin alpha 1 34 0.695 0.577 1.00 0.010 None 1.000 1 0 2019 2019
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: 1674
Gene Symbol: DES
DES
P17661 desmin 330 0.460 0.846 8.8E-03 0.010 None 1.000 1 0 2000 2000
Entrez Id: 3098
Gene Symbol: HK1
HK1
P19367 hexokinase 1 Kinase 161 0.542 0.731 0.91 0.010 None 1.000 1 0 2003 2003
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: 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: 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 2016 2016
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: 2010
Gene Symbol: EMD
EMD
P50402 emerin 163 0.542 0.731 0.93 0.010 None 1.000 1 0 2002 2002
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: 60
Gene Symbol: ACTB
ACTB
P60709 actin beta Cellular structure 1110 0.325 0.923 0.99 0.100 None 0.967 30 2 1999 2018