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: 6335
Gene Symbol: SCN9A
SCN9A
Q15858 sodium voltage-gated channel alpha subunit 9 Ion channel 213 0.543 0.615 4.8E-19 0.300 None 0 0
Entrez Id: 5443
Gene Symbol: POMC
POMC
P01189 proopiomelanocortin 873 0.356 0.846 1.2E-04 0.300 None 1.000 1 0 1984 1984
Entrez Id: 410
Gene Symbol: ARSA
ARSA
P15289 arylsulfatase A Enzyme 376 0.448 0.923 1.1E-11 0.010 None 1.000 1 0 1994 1994
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
P07686 hexosaminidase subunit beta Enzyme 62 0.644 0.654 3.5E-10 0.300 strong 1.000 1 0 1995 1995
Entrez Id: 3925
Gene Symbol: STMN1
STMN1
P16949 stathmin 1 284 0.458 0.885 7.5E-02 0.010 None 1.000 1 0 2002 2002
Entrez Id: 6606
Gene Symbol: SMN1
SMN1
Q16637 survival of motor neuron 1, telomeric Epigenetic regulator 317 0.454 0.769 1.6E-02 0.010 None 1.000 1 0 2002 2002
Entrez Id: 6607
Gene Symbol: SMN2
SMN2
Q16637 survival of motor neuron 2, centromeric 299 0.459 0.769 0.10 0.010 None 1.000 1 0 2002 2002
Entrez Id: 6638
Gene Symbol: SNRPN
SNRPN
P63162 Q9Y675 small nuclear ribonucleoprotein polypeptide N Nucleic acid binding 183 0.538 0.731 4.3E-02 0.010 None 1.000 1 0 2002 2002
Entrez Id: 8926
Gene Symbol: SNURF
SNURF
P63162 Q9Y675 SNRPN upstream reading frame 63 0.623 0.538 0.46 0.010 None 1.000 1 0 2002 2002
Entrez Id: 6949
Gene Symbol: TCOF1
TCOF1
Q13428 treacle ribosome biogenesis factor 1 138 0.550 0.808 0.95 0.010 None 1.000 1 0 2002 2002
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
P54259 atrophin 1 499 0.409 0.885 1.00 0.010 None 1.000 1 0 2004 2004
Entrez Id: 4513
Gene Symbol: COX2
COX2
P00403 cytochrome c oxidase subunit II Enzyme 875 0.352 0.962 0.010 None 1.000 1 0 2005 2005
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
Q9H936 solute carrier family 25 member 22 Transporter 106 0.595 0.577 6.6E-03 0.010 None 1.000 1 0 2005 2005
Entrez Id: 2629
Gene Symbol: GBA
GBA
P04062 glucosylceramidase beta 319 0.500 0.808 1.4E-06 0.010 None 1.000 1 0 2005 2005
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 232 0.518 0.731 1.00 0.010 None 1.000 1 0 2005 2005
Entrez Id: 6046
Gene Symbol: BRD2
BRD2
P25440 bromodomain containing 2 Epigenetic regulator 303 0.450 0.808 1.00 0.010 None 1.000 1 0 2006 2006
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 302 0.510 0.731 1.00 0.010 None 1.000 1 0 2007 2007
Entrez Id: 80258
Gene Symbol: EFHC2
EFHC2
Q5JST6 EF-hand domain containing 2 8 0.792 0.538 1.00 0.010 None 1.000 1 0 2007 2007
Entrez Id: 100528023
Gene Symbol: PPR1
PPR1
Photoparoxysmal response 1 19 0.729 0.423 0.010 None 1.000 1 0 2007 2007
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Q01453 peripheral myelin protein 22 Cellular structure 341 0.471 0.885 0.91 0.300 None 1.000 1 0 2007 2007
Entrez Id: 780910
Gene Symbol: PPR2
PPR2
Photoparoxysmal response 2 2 1.000 0.038 0.010 None 1.000 1 0 2007 2007
Entrez Id: 785
Gene Symbol: CACNB4
CACNB4
O00305 calcium voltage-gated channel auxiliary subunit beta 4 Ion channel 54 0.653 0.231 3.1E-02 0.010 None 1.000 1 0 2008 2008
Entrez Id: 2746
Gene Symbol: GLUD1
GLUD1
P00367 glutamate dehydrogenase 1 Enzyme 86 0.584 0.731 7.0E-03 0.010 None 1.000 1 0 2008 2008
Entrez Id: 170302
Gene Symbol: ARX
ARX
Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.040 None 1.000 4 1 2002 2009
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1
P15328 folate receptor alpha 174 0.522 0.885 0.13 0.010 None 1.000 1 0 2010 2010