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: 2481
Gene Symbol: FRAXE
FRAXE
fragile site, folic acid type, rare, fra(X)(q28) E 50 0.636 0.462 0.010 None 1.000 1 0 2015 2015
Entrez Id: 2973
Gene Symbol: GTS
GTS
Gilles de la Tourette syndrome 32 0.682 0.615 0.010 None 1.000 1 0 1994 1994
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
Q8TCU4 ALMS1 centrosome and basal body associated protein 147 0.559 0.808 4.5E-60 0.100 None 0 0
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
P25391 laminin subunit alpha 1 107 0.582 0.808 3.2E-32 0.100 None 0 1
Entrez Id: 5053
Gene Symbol: PAH
PAH
P00439 phenylalanine hydroxylase 219 0.516 0.769 6.4E-23 0.100 None 0 0
Entrez Id: 2006
Gene Symbol: ELN
ELN
P15502 elastin 545 0.415 0.885 2.1E-14 0.100 None 0 0
Entrez Id: 23552
Gene Symbol: CDK20
CDK20
Q8IZL9 cyclin dependent kinase 20 Kinase 34 0.682 0.462 5.9E-14 0.100 None 0 1
Entrez Id: 114791
Gene Symbol: TUBGCP5
TUBGCP5
Q96RT8 tubulin gamma complex associated protein 5 Cellular structure 13 0.769 0.346 1.2E-12 0.010 None 1.000 1 0 2006 2006
Entrez Id: 3855
Gene Symbol: KRT7
KRT7
P08729 keratin 7 287 0.463 0.808 3.1E-12 0.010 None 1.000 1 0 2007 2007
Entrez Id: 5646
Gene Symbol: PRSS3
PRSS3
P35030 serine protease 3 Enzyme 59 0.617 0.615 3.6E-12 0.010 None 1.000 1 0 2019 2019
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 177 0.513 0.808 2.2E-11 0.100 None 0 0
Entrez Id: 4925
Gene Symbol: NUCB2
NUCB2
P80303 nucleobindin 2 Calcium-binding protein 140 0.540 0.731 2.0E-10 0.010 None 1.000 1 0 2018 2018
Entrez Id: 80347
Gene Symbol: COASY
COASY
Q13057 Coenzyme A synthase Enzyme 125 0.551 0.654 8.1E-10 0.100 None 0 0
Entrez Id: 51540
Gene Symbol: SCLY
SCLY
Q96I15 selenocysteine lyase Enzyme 161 0.530 0.731 2.3E-09 0.010 None 1.000 1 0 2007 2007
Entrez Id: 9723
Gene Symbol: SEMA3E
SEMA3E
O15041 semaphorin 3E Signaling 184 0.515 0.769 8.7E-09 0.100 None 0 0
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
Q6DKK2 tetratricopeptide repeat domain 19 78 0.663 0.385 1.4E-08 0.100 None 0 0
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
Q9BZ23 pantothenate kinase 2 Kinase 171 0.559 0.808 7.4E-07 0.100 None 0 0
Entrez Id: 134728
Gene Symbol: IRAK1BP1
IRAK1BP1
Q5VVH5 interleukin 1 receptor associated kinase 1 binding protein 1 24 0.780 0.346 1.4E-06 0.100 None 0 1
Entrez Id: 27185
Gene Symbol: DISC1
DISC1
Q9NRI5 DISC1 scaffold protein 136 0.548 0.769 1.7E-06 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5982
Gene Symbol: RFC2
RFC2
P35250 replication factor C subunit 2 Enzyme 206 0.520 0.769 2.2E-06 0.100 None 0 0
Entrez Id: 6505
Gene Symbol: SLC1A1
SLC1A1
P43005 solute carrier family 1 member 1 Transporter 122 0.561 0.654 8.7E-06 0.030 None 1.000 3 1 2008 2018
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
P11511 cytochrome P450 family 19 subfamily A member 1 Enzyme 519 0.410 0.885 1.7E-05 0.010 None 1.000 1 0 2011 2011
Entrez Id: 4986
Gene Symbol: OPRK1
OPRK1
P41145 opioid receptor kappa 1 G-protein coupled receptor 156 0.555 0.615 4.1E-05 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5443
Gene Symbol: POMC
POMC
P01189 proopiomelanocortin 873 0.356 0.846 1.2E-04 0.010 None 1.000 1 0 2004 2004
Entrez Id: 9790
Gene Symbol: BMS1
BMS1
Q14692 BMS1 ribosome biogenesis factor 192 0.499 0.846 1.8E-04 0.010 None 1.000 1 0 2017 2017