Source: ALL
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: 1476
Gene Symbol: CSTB
CSTB 		P04080 cystatin B Enzyme modulator 155 0.530 0.692 6.6E-03 0.080 None 1.000 8 0 1994 2019
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: 6323
Gene Symbol: SCN1A
SCN1A 		P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 287 0.477 0.808 1.00 0.400 None 1.000 19 0 2002 2011
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: 7957
Gene Symbol: EPM2A
EPM2A 		O95278 EPM2A glucan phosphatase, laforin 87 0.608 0.577 8.7E-06 0.020 None 1.000 2 0 2002 2016
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: 4540
Gene Symbol: ND5
ND5 		P03915 NADH dehydrogenase, subunit 5 (complex I) Enzyme 241 0.531 0.769 0.020 None 1.000 2 0 2005 2018
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: 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: 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: 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: 6792
Gene Symbol: CDKL5
CDKL5 		O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.030 None 1.000 3 0 2006 2011
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: 4694
Gene Symbol: NDUFA1
NDUFA1 		O15239 NADH:ubiquinone oxidoreductase subunit A1 74 0.636 0.423 0.55 0.020 None 1.000 2 2 2007 2018
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: 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