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: 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: 26137
Gene Symbol: ZBTB20
ZBTB20
Q9HC78 zinc finger and BTB domain containing 20 139 0.566 0.731 0.97 0.100 None 1.000 7 1 2009 2017
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 1.000 7 1 1992 2017
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: 55750
Gene Symbol: AGK
AGK
Q53H12 acylglycerol kinase 60 0.650 0.654 6.0E-09 0.100 None 1.000 6 2 2012 2017
Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
Q99453 paired like homeobox 2B 128 0.565 0.731 0.94 0.100 None 1.000 4 1 2003 2017
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: 7862
Gene Symbol: BRPF1
BRPF1
P55201 bromodomain and PHD finger containing 1 51 0.686 0.385 1.00 0.100 None 1.000 2 1 2017 2017
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
SCN1A and SCN9A antisense RNA 1 58 0.636 0.346 0.100 None 1.000 40 2 1995 2016
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: 6812
Gene Symbol: STXBP1
STXBP1
P61764 syntaxin binding protein 1 Transporter 213 0.532 0.692 1.00 0.100 None 1.000 27 1 1998 2016
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
Q15858 sodium voltage-gated channel alpha subunit 9 Ion channel 213 0.543 0.615 4.8E-19 0.100 None 1.000 21 1 1995 2016
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: 64919
Gene Symbol: BCL11B
BCL11B
Q9C0K0 BAF chromatin remodeling complex subunit BCL11B Transcription factor 123 0.568 0.731 0.99 0.100 None 1.000 19 1 2003 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.100 None 1.000 19 1 1993 2016
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
Q12809 potassium voltage-gated channel subfamily H member 2 Ion channel 189 0.522 0.731 1.00 0.100 None 1.000 14 1 1999 2016
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
Q13635 patched 1 604 0.398 0.885 1.00 0.100 None 1.000 13 2 1996 2016
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: 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: 10381
Gene Symbol: TUBB3
TUBB3
Q13509 tubulin beta 3 class III Cellular structure 259 0.486 0.808 2.6E-10 0.100 None 1.000 10 1 2010 2016
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
Q7Z5J4 retinoic acid induced 1 Transcription factor 205 0.545 0.731 1.00 0.100 None 1.000 9 1 2004 2016
Entrez Id: 3756
Gene Symbol: KCNH1
KCNH1
O95259 potassium voltage-gated channel subfamily H member 1 Ion channel 180 0.542 0.731 0.55 0.100 None 1.000 8 1 1998 2016
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
P51649 aldehyde dehydrogenase 5 family member A1 Enzyme 83 0.619 0.462 3.1E-07 0.100 None 1.000 6 1 1994 2016
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
Q9NPJ1 McKusick-Kaufman syndrome 123 0.566 0.692 2.1E-09 0.100 None 1.000 5 1 1999 2016
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