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: 478
Gene Symbol: ATP1A3
ATP1A3 		P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 174 0.544 0.615 1.00 0.100 None 1.000 27 2 1988 2017
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 302 0.510 0.731 1.00 0.100 None 1.000 26 2 1995 2017
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18 		Q99592 zinc finger and BTB domain containing 18 Transcription factor 57 0.666 0.500 1.00 0.100 None 1.000 26 2 1997 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 2 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 9 1988 2017
Entrez Id: 8452
Gene Symbol: CUL3
CUL3 		Q13618 cullin 3 83 0.592 0.654 1.00 0.100 None 1.000 25 2 1986 2016
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		Q05586 glutamate ionotropic receptor NMDA type subunit 1 Ion channel 150 0.561 0.692 0.98 0.100 None 1.000 25 2 1983 2017
Entrez Id: 53335
Gene Symbol: BCL11A
BCL11A 		Q9H165 BAF chromatin remodeling complex subunit BCL11A Transcription factor 154 0.541 0.769 0.97 0.100 None 1.000 25 1 2000 2018
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 422 0.457 0.808 2.2E-16 0.100 None 1.000 24 1 1976 2017
Entrez Id: 1795
Gene Symbol: DOCK3
DOCK3 		Q8IZD9 dedicator of cytokinesis 3 85 0.619 0.692 1.00 0.100 None 1.000 23 1 2000 2018
Entrez Id: 1213
Gene Symbol: CLTC
CLTC 		Q00610 clathrin heavy chain Transporter 141 0.558 0.769 1.00 0.100 None 1.000 23 1 1976 2017
Entrez Id: 51651
Gene Symbol: PTRH2
PTRH2 		Q9Y3E5 peptidyl-tRNA hydrolase 2 70 0.641 0.577 6.4E-04 0.100 None 1.000 23 1 1976 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 4 1991 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 17 1989 2017
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		O95622 adenylate cyclase 5 103 0.617 0.577 1.00 0.100 None 1.000 22 1 1992 2017
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		Q9UBP0 spastin Cellular structure 138 0.579 0.577 1.00 0.100 None 1.000 21 1 1999 2016
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 261 0.485 0.808 1.00 0.100 None 1.000 21 5 2002 2016
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		Q9UPW6 SATB homeobox 2 Transcription factor 233 0.503 0.769 1.00 0.100 None 1.000 21 5 1989 2017
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		P46100 ATRX chromatin remodeler 412 0.452 0.808 1.00 0.100 None 1.000 21 2 1992 2017
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12 		Q14669 thyroid hormone receptor interactor 12 81 0.678 0.462 1.00 0.100 None 1.000 21 1 1998 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: 26278
Gene Symbol: SACS
SACS 		Q9NZJ4 sacsin molecular chaperone 106 0.606 0.654 1.1E-23 0.100 None 1.000 21 3 1993 2016
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		Q01453 peripheral myelin protein 22 Cellular structure 341 0.471 0.885 0.91 0.100 None 1.000 20 1 1992 2015
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		P02452 collagen type I alpha 1 chain 487 0.430 0.808 1.00 0.100 None 1.000 20 1 1957 2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		Q06124 protein tyrosine phosphatase non-receptor type 11 702 0.385 0.923 1.00 0.100 None 1.000 20 7 1968 2016