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: 23512
Gene Symbol: SUZ12
SUZ12 		Q15022 SUZ12 polycomb repressive complex 2 subunit Nucleic acid binding 165 0.529 0.577 1.00 0.300 None 1.000 1 0 2019 2019
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: 1788
Gene Symbol: DNMT3A
DNMT3A 		Q9Y6K1 DNA methyltransferase 3 alpha 350 0.445 0.846 7.4E-39 0.100 None 1.000 36 1 1989 2018
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: 3785
Gene Symbol: KCNQ2
KCNQ2 		O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 175 0.537 0.654 1.00 0.100 None 1.000 29 1 1980 2017
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: 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: 8085
Gene Symbol: KMT2D
KMT2D 		O14686 lysine methyltransferase 2D 320 0.465 0.808 1.00 0.100 None 1.000 25 1 1988 2017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		Q03164 lysine methyltransferase 2A 535 0.410 0.885 1.00 0.100 None 1.000 22 1 1989 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: 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: 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: 79738
Gene Symbol: BBS10
BBS10 		Q8TAM1 Bardet-Biedl syndrome 10 63 0.644 0.538 1.7E-12 0.100 None 1.000 17 4 1999 2013
Entrez Id: 5053
Gene Symbol: PAH
PAH 		P00439 phenylalanine hydroxylase 219 0.516 0.769 6.4E-23 0.100 None 1.000 17 2 1993 2015
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		Q71F56 mediator complex subunit 13L 94 0.617 0.538 1.00 0.100 None 1.000 16 1 1971 2018
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		O00571 DEAD-box helicase 3 X-linked 180 0.537 0.769 1.00 0.100 None 1.000 16 1 1989 2017
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		O75445 usherin Enzyme modulator 119 0.579 0.692 1.6E-94 0.100 None 1.000 15 2 2000 2015
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: 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: 5728
Gene Symbol: PTEN
PTEN 		P60484 phosphatase and tensin homolog Enzyme 1349 0.305 0.923 0.26 0.100 None 1.000 14 3 2001 2015
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: 4647
Gene Symbol: MYO7A
MYO7A 		Q13402 myosin VIIA Cellular structure 104 0.585 0.423 1.6E-38 0.100 None 1.000 13 2 1995 2011