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: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
TTN antisense RNA 1 112 0.599 0.577 0.100 None 0 2
Entrez Id: 4576
Gene Symbol: TRNT
TRNT
tRNA 36 0.729 0.538 0.100 None 0 0
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
P07196 neurofilament light 247 0.488 0.769 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN
Q8WZ42 titin Kinase 366 0.470 0.885 2.6E-96 0.100 None 0 2
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
P24043 laminin subunit alpha 2 Enzyme modulator 167 0.553 0.692 2.4E-47 0.100 None 0 0
Entrez Id: 4703
Gene Symbol: NEB
NEB
P20929 nebulin 148 0.608 0.692 4.6E-41 0.100 None 0 0
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
Q96JI7 SPG11 vesicle trafficking associated, spatacsin 139 0.576 0.538 1.6E-39 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
Q92562 FIG4 phosphoinositide 5-phosphatase 223 0.551 0.731 2.3E-34 0.100 None 0 0
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 257 0.507 0.808 5.2E-22 0.100 None 0 0
Entrez Id: 23230
Gene Symbol: VPS13A
VPS13A
Q96RL7 vacuolar protein sorting 13 homolog A 104 0.650 0.577 9.3E-22 0.100 None 0 0
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 0.100 None 0 0
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
P55268 laminin subunit beta 2 Enzyme modulator 116 0.601 0.654 2.5E-19 0.100 None 0 0
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 95 0.610 0.808 3.6E-19 0.100 None 0 0
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
Q15858 sodium voltage-gated channel alpha subunit 9 Ion channel 213 0.543 0.615 4.8E-19 0.100 None 0 0
Entrez Id: 4311
Gene Symbol: MME
MME
P08473 membrane metalloendopeptidase Enzyme 470 0.407 0.808 1.5E-18 0.100 None 0 0
Entrez Id: 2548
Gene Symbol: GAA
GAA
P10253 glucosidase alpha, acid Enzyme 77 0.631 0.577 2.8E-18 0.100 None 1.000 1 1 2015 2015
Entrez Id: 55775
Gene Symbol: TDP1
TDP1
Q9NUW8 tyrosyl-DNA phosphodiesterase 1 Enzyme 70 0.612 0.538 1.3E-17 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-17 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 422 0.457 0.808 2.2E-16 0.100 None 0 0
Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2
P38935 immunoglobulin mu DNA binding protein 2 102 0.636 0.615 3.0E-16 0.100 None 0 2
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
O00623 peroxisomal biogenesis factor 12 Transporter 126 0.601 0.615 9.5E-16 0.100 None 0 0
Entrez Id: 4141
Gene Symbol: MARS1
MARS1
P56192 methionyl-tRNA synthetase 1 66 0.638 0.654 2.1E-15 0.100 None 0 0
Entrez Id: 340075
Gene Symbol: ARSI
ARSI
Q5FYB1 arylsulfatase family member I 55 0.656 0.615 6.0E-15 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
O43933 peroxisomal biogenesis factor 1 235 0.538 0.769 1.1E-14 0.100 None 0 0