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: 5286
Gene Symbol: PIK3C2A
PIK3C2A 		O00443 phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha Kinase 80 0.633 0.692 1.0E-02 0.020 None 1.000 2 0 1979 1989
Entrez Id: 1756
Gene Symbol: DMD
DMD 		P11532 dystrophin 484 0.423 0.923 1.00 0.100 None 0.917 36 0 1987 2019
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		O76090 bestrophin 1 Ion channel 292 0.465 0.885 1.8E-12 0.020 None 1.000 2 0 1987 2018
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		P06276 butyrylcholinesterase 392 0.447 0.923 1.1E-13 0.300 None 1.000 1 0 1990 1990
Entrez Id: 43
Gene Symbol: ACHE
ACHE 		P22303 acetylcholinesterase (Cartwright blood group) Enzyme 418 0.445 0.885 1.00 0.030 None 1.000 3 0 1992 2019
Entrez Id: 367
Gene Symbol: AR
AR 		P10275 androgen receptor Nuclear receptor 854 0.351 0.846 0.99 0.010 None 1.000 1 0 1992 1992
Entrez Id: 6476
Gene Symbol: SI
SI 		P14410 sucrase-isomaltase Enzyme 117 0.569 0.692 3.9E-60 0.050 None 1.000 5 0 1995 2018
Entrez Id: 8972
Gene Symbol: MGAM
MGAM 		O43451 maltase-glucoamylase Enzyme 95 0.592 0.615 1.0E-35 0.050 None 1.000 5 0 1995 2018
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 0.938 16 0 1996 2019
Entrez Id: 6607
Gene Symbol: SMN2
SMN2 		Q16637 survival of motor neuron 2, centromeric 299 0.459 0.769 0.10 0.100 None 0.917 12 1 1996 2019
Entrez Id: 3925
Gene Symbol: STMN1
STMN1 		P16949 stathmin 1 284 0.458 0.885 7.5E-02 0.090 None 1.000 9 0 1996 2019
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 0.090 None 1.000 9 0 1996 2019
Entrez Id: 8926
Gene Symbol: SNURF
SNURF 		P63162 Q9Y675 SNRPN upstream reading frame 63 0.623 0.538 0.46 0.090 None 1.000 9 0 1996 2019
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		Q01453 peripheral myelin protein 22 Cellular structure 341 0.471 0.885 0.91 0.040 None 1.000 4 0 1996 2019
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B 		O60333 kinesin family member 1B Cellular structure 213 0.516 0.808 1.00 0.030 None 1.000 3 0 1997 2018
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		P06865 hexosaminidase subunit alpha Enzyme 79 0.633 0.615 1.3E-11 0.010 None 1.000 1 0 1997 1997
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 1997 1997
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		O95140 mitofusin 2 Enzyme 334 0.471 0.846 0.99 0.010 None 1.000 1 0 1997 1997
Entrez Id: 4233
Gene Symbol: MET
MET 		P08581 MET proto-oncogene, receptor tyrosine kinase Kinase 594 0.380 0.846 0.97 0.010 None 1.000 1 0 1998 1998
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1 		P01909 major histocompatibility complex, class II, DQ alpha 1 Immune response 427 0.416 0.846 2.4E-02 0.010 None 1.000 1 0 1998 1998
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		P00441 superoxide dismutase 1 Enzyme 689 0.379 0.962 0.18 0.080 None 1.000 8 3 1999 2017
Entrez Id: 1674
Gene Symbol: DES
DES 		P17661 desmin 330 0.460 0.846 8.8E-03 0.080 None 1.000 8 3 2000 2013
Entrez Id: 8291
Gene Symbol: DYSF
DYSF 		O75923 dysferlin Transporter 144 0.582 0.692 3.7E-33 0.040 None 1.000 4 1 2000 2014
Entrez Id: 7879
Gene Symbol: RAB7A
RAB7A 		P51149 RAB7A, member RAS oncogene family 95 0.597 0.692 0.97 0.020 None 1.000 2 0 2000 2003
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		P56539 caveolin 3 Enzyme modulator 163 0.564 0.692 5.5E-03 0.020 None 1.000 2 0 2000 2003