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: 5376
Gene Symbol: PMP22
PMP22
Q01453 peripheral myelin protein 22 Cellular structure 341 0.471 0.885 0.91 0.400 None 1.000 1 0 2002 2002
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
P49638 alpha tocopherol transfer protein Transporter 147 0.612 0.577 1.4E-03 0.400 None 1.000 1 0 2000 2000
Entrez Id: 18
Gene Symbol: ABAT
ABAT
P80404 4-aminobutyrate aminotransferase Enzyme 127 0.628 0.538 6.3E-03 0.300 None 1.000 1 0 1999 1999
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7
O15265 ataxin 7 162 0.581 0.654 0.96 0.300 None 1.000 1 0 2014 2014
Entrez Id: 1141
Gene Symbol: CHRNB2
CHRNB2
P17787 cholinergic receptor nicotinic beta 2 subunit Ion channel 96 0.617 0.308 7.3E-04 0.300 None 1.000 1 0 2013 2013
Entrez Id: 6606
Gene Symbol: SMN1
SMN1
Q16637 survival of motor neuron 1, telomeric Epigenetic regulator 317 0.454 0.769 1.6E-02 0.100 None 1.000 1 2 2013 2013
Entrez Id: 6607
Gene Symbol: SMN2
SMN2
Q16637 survival of motor neuron 2, centromeric 299 0.459 0.769 0.10 0.100 None 1.000 1 2 2013 2013
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: 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: 63895
Gene Symbol: PIEZO2
PIEZO2
Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 224 0.529 0.769 8.1E-07 0.100 None 0 2
Entrez Id: 64419
Gene Symbol: MTMR14
MTMR14
Q8NCE2 myotubularin related protein 14 61 0.674 0.615 1.4E-07 0.100 None 0 0
Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1
P54253 ataxin 1 218 0.534 0.769 0.97 0.100 None 0 0
Entrez Id: 6305
Gene Symbol: SBF1
SBF1
O95248 SET binding factor 1 Enzyme 34 0.700 0.500 1.00 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: 60482
Gene Symbol: SLC5A7
SLC5A7
Q9GZV3 solute carrier family 5 member 7 Transporter 127 0.597 0.654 1.5E-02 0.100 None 0 0
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
Q9H1B7 interferon regulatory factor 2 binding protein like 120 0.631 0.462 0.84 0.100 None 0 1
Entrez Id: 64374
Gene Symbol: SIL1
SIL1
Q9H173 SIL1 nucleotide exchange factor 115 0.584 0.731 1.2E-02 0.100 None 0 0
Entrez Id: 667
Gene Symbol: DST
DST
Q03001 dystonin Cellular structure 147 0.552 0.846 1.00 0.100 None 0 0
Entrez Id: 6663
Gene Symbol: SOX10
SOX10
P56693 SRY-box transcription factor 10 334 0.461 0.808 0.99 0.100 None 0 0
Entrez Id: 6616
Gene Symbol: SNAP25
SNAP25
P60880 synaptosome associated protein 25 Transporter 283 0.489 0.808 0.99 0.100 None 0 0
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
Q12756 kinesin family member 1A Cellular structure 187 0.559 0.692 1.00 0.100 None 0 0
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
P53007 solute carrier family 25 member 1 Transporter 168 0.553 0.731 5.9E-02 0.100 None 0 0
Entrez Id: 6572
Gene Symbol: SLC18A3
SLC18A3
Q16572 solute carrier family 18 member A3 Transporter 117 0.608 0.654 0.45 0.100 None 0 0
Entrez Id: 65125
Gene Symbol: WNK1
WNK1
Q9H4A3 WNK lysine deficient protein kinase 1 Kinase 460 0.416 0.846 1.00 0.100 None 0 0
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
Q9H902 receptor accessory protein 1 Transporter 79 0.653 0.423 0.99 0.100 None 0 0