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: 54757
Gene Symbol: FAM20A
FAM20A 		Q96MK3 FAM20A golgi associated secretory pathway pseudokinase 37 0.700 0.346 2.2E-07 0.100 None 0 0
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: 4210
Gene Symbol: MEFV
MEFV 		O15553 MEFV innate immuity regulator, pyrin 410 0.440 0.885 1.0E-14 0.100 None 1.000 12 1 1967 2017
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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
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: 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: 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: 2778
Gene Symbol: GNAS
GNAS 		O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 536 0.420 0.885 0.68 0.100 None 1.000 10 1 1993 2017
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: 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: 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: 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
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		Q14896 myosin binding protein C3 100 0.593 0.385 8.0E-11 0.100 None 1.000 7 1 1995 2013
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