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: 7957
Gene Symbol: EPM2A
EPM2A 		O95278 EPM2A glucan phosphatase, laforin 87 0.608 0.577 8.7E-06 0.500 None 1.000 20 2 1998 2016
Entrez Id: 378884
Gene Symbol: NHLRC1
NHLRC1 		Q6VVB1 NHL repeat containing E3 ubiquitin protein ligase 1 56 0.656 0.423 9.4E-02 0.350 None 1.000 6 0 2003 2016
Entrez Id: 54982
Gene Symbol: CLN6
CLN6 		Q9NWW5 CLN6 transmembrane ER protein 59 0.670 0.231 1.0E-04 0.320 None 1.000 3 0 2012 2015
Entrez Id: 1471
Gene Symbol: CST3
CST3 		P01034 cystatin C 370 0.436 0.808 3.9E-03 0.010 None 1.000 1 0 2010 2010
Entrez Id: 26278
Gene Symbol: SACS
SACS 		Q9NZJ4 sacsin molecular chaperone 106 0.606 0.654 1.1E-23 0.300 None 1.000 1 0 2015 2015
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 221 0.545 0.692 1.1E-09 0.010 None 1.000 1 0 2019 2019
Entrez Id: 27115
Gene Symbol: PDE7B
PDE7B 		Q9NP56 phosphodiesterase 7B 34 0.691 0.423 0.55 0.010 None 1.000 1 0 2016 2016
Entrez Id: 2952
Gene Symbol: GSTT1
GSTT1 		P30711 glutathione S-transferase theta 1 541 0.393 0.923 1.5E-04 0.010 None 1.000 1 0 2015 2015
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		P02545 lamin A/C 824 0.384 0.885 1.00 0.010 None 1.000 1 0 2015 2015
Entrez Id: 4061
Gene Symbol: LY6E
LY6E 		Q16553 lymphocyte antigen 6 family member E 115 0.563 0.808 0.32 0.010 None < 0.001 1 0 1996 1996
Entrez Id: 5621
Gene Symbol: PRNP
PRNP 		F7VJQ1 P04156 prion protein 426 0.445 0.923 6.3E-04 0.300 None 1.000 1 0 2015 2015
Entrez Id: 5822
Gene Symbol: PWP2
PWP2 		Q15269 PWP2 small subunit processome component 4 0.861 0.115 7.0E-04 0.010 None 1.000 1 0 1996 1996
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 2016 2016
Entrez Id: 7248
Gene Symbol: TSC1
TSC1 		Q92574 TSC complex subunit 1 391 0.440 0.808 1.00 0.300 None 1.000 1 0 2007 2007
Entrez Id: 79594
Gene Symbol: MUL1
MUL1 		Q969V5 mitochondrial E3 ubiquitin protein ligase 1 241 0.473 0.808 1.9E-06 0.010 None 1.000 1 0 2011 2011
Entrez Id: 84823
Gene Symbol: LMNB2
LMNB2 		Q03252 lamin B2 74 0.636 0.615 1.00 0.310 None 1.000 1 0 2015 2015
Entrez Id: 10715
Gene Symbol: CERS1
CERS1 		P27544 ceramide synthase 1 49 0.638 0.385 9.7E-02 0.300 None 0 0
Entrez Id: 1106
Gene Symbol: CHD2
CHD2 		O14647 chromodomain helicase DNA binding protein 2 99 0.585 0.577 1.00 0.300 None 0 0
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		P54259 atrophin 1 499 0.409 0.885 1.00 0.300 None 0 0
Entrez Id: 56978
Gene Symbol: PRDM8
PRDM8 		Q9NQV8 PR/SET domain 8 39 0.678 0.462 0.78 0.300 None 0 0
Entrez Id: 144165
Gene Symbol: PRICKLE1
PRICKLE1 		Q96MT3 prickle planar cell polarity protein 1 Cellular structure 57 0.647 0.615 1.00 0.020 None 1.000 2 0 2008 2019
Entrez Id: 2012
Gene Symbol: EMP1
EMP1 		P54849 epithelial membrane protein 1 Cellular structure 114 0.560 0.769 0.50 0.010 None 1.000 1 0 1991 1991
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		Q13510 N-acylsphingosine amidohydrolase 1 Enzyme 176 0.526 0.808 1.3E-12 0.060 None 1.000 6 1 2012 2016
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 123 0.588 0.462 5.3E-09 0.300 None 1.000 1 0 2015 2015
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2 		Q8N7E2 Cbl proto-oncogene like 2 Enzyme 235 0.476 0.808 0.010 None 1.000 1 0 2011 2011