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: 4771
Gene Symbol: NF2
NF2
P35240 neurofibromin 2 312 0.468 0.885 1.00 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: 4625
Gene Symbol: MYH7
MYH7
P12883 myosin heavy chain 7 257 0.516 0.692 4.2E-16 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 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
Q13496 myotubularin 1 Enzyme 125 0.573 0.731 1.00 0.100 None 0 0
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
Q13510 N-acylsphingosine amidohydrolase 1 Enzyme 176 0.526 0.808 1.3E-12 0.100 None 0 0
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
Q9UMX1 SUFU negative regulator of hedgehog signaling 272 0.493 0.769 1.00 0.100 None 0 0
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
Q9NZK5 adenosine deaminase 2 Enzyme 165 0.545 0.846 8.1E-08 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
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
Q7Z412 peroxisomal biogenesis factor 26 132 0.584 0.615 0.93 0.100 None 0 0
Entrez Id: 54567
Gene Symbol: DLL4
DLL4
Q9NR61 delta like canonical Notch ligand 4 219 0.494 0.769 1.00 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.100 None 0 0
Entrez Id: 5195
Gene Symbol: PEX14
PEX14
O75381 peroxisomal biogenesis factor 14 Receptor 133 0.592 0.692 0.23 0.100 None 0 0
Entrez Id: 5194
Gene Symbol: PEX13
PEX13
Q92968 peroxisomal biogenesis factor 13 132 0.597 0.654 5.9E-05 0.100 None 0 0
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: 5192
Gene Symbol: PEX10
PEX10
O60683 peroxisomal biogenesis factor 10 141 0.584 0.654 5.4E-04 0.100 None 0 0
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
Q13608 peroxisomal biogenesis factor 6 232 0.547 0.731 6.3E-06 0.100 None 0 0
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.100 None 0 0
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
Q15475 SIX homeobox 1 Transcription factor 200 0.496 0.692 0.65 0.100 None 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
Q93074 mediator complex subunit 12 Transcription factor 340 0.476 0.769 1.00 0.100 None 0 0
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
Q13501 sequestosome 1 470 0.428 0.885 8.6E-04 0.100 None 0 0
Entrez Id: 8799
Gene Symbol: PEX11B
PEX11B
O96011 peroxisomal biogenesis factor 11 beta 120 0.612 0.654 1.3E-04 0.100 None 0 0
Entrez Id: 8600
Gene Symbol: TNFSF11
TNFSF11
O14788 TNF superfamily member 11 Signaling 327 0.453 0.846 4.9E-03 0.100 None 0 0
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: 8504
Gene Symbol: PEX3
PEX3
P56589 peroxisomal biogenesis factor 3 127 0.595 0.731 1.6E-02 0.100 None 0 0