Source: CURATED ×
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: 84947
Gene Symbol: SERAC1
SERAC1 		Q96JX3 serine active site containing 1 17 0.686 0.385 3.9E-06 0.620 None 1.000 4 0 2006 2018
Entrez Id: 103
Gene Symbol: ADAR
ADAR 		P55265 adenosine deaminase RNA specific Enzyme 14 0.501 0.808 2.6E-02 0.440 None 1.000 3 0 2006 2016
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A 		P04350 tubulin beta 4A class IVa Cellular structure 5 0.608 0.615 0.11 0.500 None 1.000 3 1 2011 2018
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		O14656 torsin family 1 member A Chaperone 25 0.566 0.731 5.1E-04 0.500 None 0.973 3 1 1991 2019
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		P11166 solute carrier family 2 member 1 Transporter 94 0.388 0.808 0.99 0.450 None 1.000 3 1 2000 2018
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA 		O75569 protein activator of interferon induced protein kinase EIF2AK2 Kinase 34 0.579 0.615 0.42 0.600 None 1.000 3 0 2008 2018
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		Q9NVV9 THAP domain containing 1 20 0.644 0.462 0.80 0.600 None 0.964 2 0 1999 2019
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		P49768 presenilin 1 Enzyme 45 0.469 0.846 0.97 0.410 None 1.000 2 1 2012 2017
Entrez Id: 54209
Gene Symbol: TREM2
TREM2 		Q9NZC2 triggering receptor expressed on myeloid cells 2 19 0.519 0.769 3.3E-09 0.300 None 1.000 2 0 2005 2016
Entrez Id: 170302
Gene Symbol: ARX
ARX 		Q96QS3 aristaless related homeobox 11 0.516 0.654 0.91 0.460 None 1.000 2 0 2002 2015
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		P30793 GTP cyclohydrolase 1 Enzyme 36 0.511 0.846 0.90 0.700 None 0.982 2 2 1991 2019
Entrez Id: 2639
Gene Symbol: GCDH
GCDH 		Q92947 glutaryl-CoA dehydrogenase 2 0.691 0.385 4.9E-03 0.430 None 1.000 2 1 1995 2015
Entrez Id: 5805
Gene Symbol: PTS
PTS 		Q03393 6-pyruvoyltetrahydropterin synthase 3 0.636 0.654 6.5E-06 0.400 None 1.000 2 0 2016 2016
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		P09619 platelet derived growth factor receptor beta Kinase 25 0.416 0.846 0.90 0.400 None 1.000 2 0 2014 2015
Entrez Id: 1644
Gene Symbol: DDC
DDC 		P20711 dopa decarboxylase 30 0.535 0.769 3.8E-08 0.300 None 1.000 2 0 2009 2014
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		P50993 ATPase Na+/K+ transporting subunit alpha 2 Transporter 16 0.597 0.615 1.8E-04 0.400 None 1.000 2 0 2003 2003
Entrez Id: 5860
Gene Symbol: QDPR
QDPR 		P09417 quinoid dihydropteridine reductase Enzyme 6 0.691 0.500 1.5E-04 0.400 None 1.000 2 0 1998 2000
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 5 0.631 0.615 0.87 0.300 None 1.000 2 0 2008 2014
Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B 		Q9UQN3 charged multivesicular body protein 2B 12 0.543 0.731 4.6E-06 0.400 None 1.000 1 0 2008 2008
Entrez Id: 549
Gene Symbol: AUH
AUH 		Q13825 AU RNA binding methylglutaconyl-CoA hydratase Enzyme 3 0.686 0.346 8.0E-06 0.400 None 1.000 1 0 2010 2010
Entrez Id: 54840
Gene Symbol: APTX
APTX 		Q7Z2E3 aprataxin Nucleic acid binding 4 0.590 0.500 4.0E-10 0.410 None 1.000 1 0 2003 2003
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10 		Q6XR72 solute carrier family 30 member 10 Transporter 25 0.578 0.654 0.98 0.450 None 1.000 1 0 2012 2019
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		P60201 proteolipid protein 1 Cellular structure 13 0.543 0.769 0.93 0.400 None 1.000 1 0 2000 2000
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 31 0.544 0.615 1.00 0.500 None 1.000 1 2 1999 2016
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		P60709 actin beta Cellular structure 48 0.325 0.923 0.99 0.320 None 1.000 1 0 2006 2018