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: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		P78357 contactin associated protein 1 166 0.554 0.577 3.4E-05 0.100 None 1.000 1 1 2017 2017
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 123 0.588 0.462 5.3E-09 0.100 None 1.000 1 1 2010 2010
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7 		Q8IXQ5 kelch like family member 7 135 0.581 0.731 4.6E-05 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		Q8NFD5 AT-rich interaction domain 1B 270 0.503 0.846 1.00 0.100 None 0 1
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1 		Q9BQL6 fermitin family member 1 104 0.599 0.577 2.9E-11 0.100 None 0 0
Entrez Id: 54892
Gene Symbol: NCAPG2
NCAPG2 		Q86XI2 non-SMC condensin II complex subunit G2 80 0.603 0.731 0.98 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		Q96Q42 alsin Rho guanine nucleotide exchange factor ALS2 84 0.647 0.423 8.7E-12 0.100 None 0 0
Entrez Id: 57704
Gene Symbol: GBA2
GBA2 		Q9HCG7 glucosylceramidase beta 2 79 0.636 0.654 2.0E-20 0.100 None 0 0
Entrez Id: 54834
Gene Symbol: GDAP2
GDAP2 		Q9NXN4 ganglioside induced differentiation associated protein 2 19 0.839 0.154 1.5E-09 0.100 None 0 0
Entrez Id: 54704
Gene Symbol: PDP1
PDP1 		Q9P0J1 pyruvate dehyrogenase phosphatase catalytic subunit 1 Enzyme 45 0.691 0.462 0.45 0.100 None 0 0
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		Q9UJ55 MAGE family member L2 Cell adhesion 184 0.560 0.654 0.98 0.100 None 0 1
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		P68133 actin alpha 1, skeletal muscle Cellular structure 217 0.540 0.769 1.1E-06 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: 540
Gene Symbol: ATP7B
ATP7B 		P35670 ATPase copper transporting beta Transporter 182 0.529 0.654 4.8E-30 0.100 None 0 0
Entrez Id: 5393
Gene Symbol: EXOSC9
EXOSC9 		Q06265 exosome component 9 Enzyme 55 0.705 0.423 1.8E-11 0.100 None 0 1
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		Q04656 ATPase copper transporting alpha Transporter 348 0.494 0.769 1.00 0.100 None 0 0
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		P60201 proteolipid protein 1 Cellular structure 160 0.543 0.769 0.93 0.100 None 0 0
Entrez Id: 57462
Gene Symbol: MYORG
MYORG 		Q6NSJ0 myogenesis regulating glycosidase (putative) Enzyme 32 0.805 0.269 1.1E-11 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		Q9P2D1 chromodomain helicase DNA binding protein 7 419 0.441 0.846 1.00 0.100 None 0 0
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2 		P36507 mitogen-activated protein kinase kinase 2 Kinase 177 0.534 0.731 0.97 0.100 None 0 0
Entrez Id: 55823
Gene Symbol: VPS11
VPS11 		Q9H270 VPS11 core subunit of CORVET and HOPS complexes Transporter 79 0.633 0.654 1.9E-05 0.100 None 0 1
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		Q0VAK6 leiomodin 3 Cellular structure 67 0.700 0.423 1.6E-07 0.100 None 0 0
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1 		P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 151 0.584 0.731 0.92 0.100 None 0 0
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG 		P05129 protein kinase C gamma Kinase 90 0.617 0.500 1.00 0.100 None 0 0
Entrez Id: 5660
Gene Symbol: PSAP
PSAP 		P07602 prosaposin 189 0.532 0.846 0.99 0.100 None 0 0