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: 3073
Gene Symbol: HEXA
HEXA
P06865 hexosaminidase subunit alpha Enzyme 79 0.633 0.615 1.3E-11 0.100 None 1.000 11 1 1986 2011
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
P09619 platelet derived growth factor receptor beta Kinase 492 0.416 0.846 0.90 0.100 None 0 0
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
P11166 solute carrier family 2 member 1 Transporter 687 0.388 0.808 0.99 0.100 None 1.000 21 1 1991 2016
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1
P14867 gamma-aminobutyric acid type A receptor subunit alpha1 Ion channel 123 0.563 0.577 0.91 0.100 None 1.000 11 1 1997 2016
Entrez Id: 2312
Gene Symbol: FLG
FLG
P20930 filaggrin Cellular structure 173 0.525 0.846 2.9E-04 0.100 None 1.000 1 1 2006 2006
Entrez Id: 4763
Gene Symbol: NF1
NF1
P21359 neurofibromin 1 Enzyme modulator 380 0.440 0.885 0.90 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
P21802 fibroblast growth factor receptor 2 Kinase 731 0.380 0.808 1.00 0.100 None 1.000 26 1 1985 2017
Entrez Id: 191
Gene Symbol: AHCY
AHCY
P23526 adenosylhomocysteinase Enzyme 107 0.582 0.692 3.6E-02 0.100 None 1.000 5 1 2006 2016
Entrez Id: 627
Gene Symbol: BDNF
BDNF
P23560 brain derived neurotrophic factor Signaling 992 0.345 0.923 0.66 0.100 None 1.000 6 1 2001 2018
Entrez Id: 894
Gene Symbol: CCND2
CCND2
P30279 cyclin D2 Enzyme modulator 241 0.477 0.808 0.99 0.100 None 1.000 13 1 2004 2018
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
P30518 arginine vasopressin receptor 2 G-protein coupled receptor 134 0.568 0.769 0.56 0.100 None 1.000 9 1 1999 2015
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
P31040 succinate dehydrogenase complex flavoprotein subunit A Enzyme 246 0.517 0.731 2.6E-10 0.100 None 1.000 4 1 2010 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
P35222 catenin beta 1 1368 0.303 0.885 1.00 0.100 None 1.000 22 1 1991 2017
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 287 0.477 0.808 1.00 0.100 None 1.000 19 1 1997 2014
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
P35555 fibrillin 1 Calcium-binding protein 552 0.417 0.846 1.00 0.100 None 1.000 29 2 1986 2016
Entrez Id: 2645
Gene Symbol: GCK
GCK
P35557 glucokinase Kinase 210 0.523 0.808 0.63 0.100 None 1.000 5 1 2004 2016
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
P37287 phosphatidylinositol glycan anchor biosynthesis class A 140 0.575 0.654 0.96 0.100 None 0 0
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
P41229 lysine demethylase 5C 119 0.581 0.538 1.00 0.100 None 1.000 12 1 2005 2016
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1511 0.292 0.923 1.00 0.100 None 1.000 14 3 2006 2018
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 219 0.504 0.769 1.00 0.100 None 1.000 6 1 1997 2017
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 141 0.551 0.769 1.4E-22 0.100 None 1.000 9 1 1996 2013
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
P49459 ubiquitin conjugating enzyme E2 A 96 0.623 0.692 0.81 0.100 None 1.000 8 1 2006 2017
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
P49918 cyclin dependent kinase inhibitor 1C 298 0.456 0.846 0.82 0.100 None 0 0
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
P50148 G protein subunit alpha q Enzyme modulator 219 0.516 0.808 0.98 0.100 None 0 1
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
P50993 ATPase Na+/K+ transporting subunit alpha 2 Transporter 102 0.597 0.615 1.8E-04 0.100 None 1.000 12 1 1992 2017