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: 6419
Gene Symbol: SETMAR
SETMAR
Q53H47 SET domain and mariner transposase fusion gene Epigenetic regulator 61 0.617 0.692 1.0E-04 0.010 None 1.000 1 0 1995 1995
Entrez Id: 4513
Gene Symbol: COX2
COX2
P00403 cytochrome c oxidase subunit II Enzyme 875 0.352 0.962 0.010 None 1.000 1 0 1996 1996
Entrez Id: 4155
Gene Symbol: MBP
MBP
P02686 myelin basic protein 184 0.510 0.885 0.28 0.010 None 1.000 1 0 1996 1996
Entrez Id: 107075310
Gene Symbol: MTCO2P12
MTCO2P12
MT-CO2 pseudogene 12 703 0.368 0.962 0.010 None 1.000 1 0 1996 1996
Entrez Id: 5743
Gene Symbol: PTGS2
PTGS2
P35354 prostaglandin-endoperoxide synthase 2 Enzyme 1234 0.314 0.962 1.00 0.010 None 1.000 1 0 1996 1996
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
P26367 paired box 6 340 0.450 0.769 1.00 0.030 None 1.000 3 0 1997 2014
Entrez Id: 2481
Gene Symbol: FRAXE
FRAXE
fragile site, folic acid type, rare, fra(X)(q28) E 50 0.636 0.462 0.020 None 1.000 2 0 1997 1998
Entrez Id: 7389
Gene Symbol: UROD
UROD
P06132 uroporphyrinogen decarboxylase 166 0.521 0.769 1.3E-08 0.020 None 1.000 2 0 1997 2006
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
Q15672 twist family bHLH transcription factor 1 Transcription factor 559 0.397 0.846 0.34 0.030 None 1.000 3 0 1998 2013
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
P28472 gamma-aminobutyric acid type A receptor subunit beta3 Ion channel 139 0.546 0.615 0.95 0.030 None 1.000 3 0 1998 2018
Entrez Id: 2477
Gene Symbol: FRAXA
FRAXA
fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) 50 0.641 0.462 0.020 None 1.000 2 0 1998 2002
Entrez Id: 9318
Gene Symbol: COPS2
COPS2
P61201 COP9 signalosome subunit 2 10 0.792 0.231 1.00 0.010 None 1.000 1 0 1998 1998
Entrez Id: 4763
Gene Symbol: NF1
NF1
P21359 neurofibromin 1 Enzyme modulator 380 0.440 0.885 0.90 0.010 None 1.000 1 0 1998 1998
Entrez Id: 551
Gene Symbol: AVP
AVP
P01185 arginine vasopressin Signaling 454 0.437 0.846 7.4E-02 0.010 None 1.000 1 0 1998 1998
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.010 None 1.000 1 0 1999 1999
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.190 None 1.000 15 3 2000 2017
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
P11166 solute carrier family 2 member 1 Transporter 687 0.388 0.808 0.99 0.330 strong 1.000 4 0 2000 2019
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1
Q02252 aldehyde dehydrogenase 6 family member A1 Enzyme 41 0.716 0.462 7.6E-10 0.010 None 1.000 1 0 2000 2000
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Q06124 protein tyrosine phosphatase non-receptor type 11 702 0.385 0.923 1.00 0.110 None 1.000 3 1 2001 2018
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
P49917 DNA ligase 4 293 0.478 0.846 4.2E-06 0.020 None 1.000 2 1 2001 2006
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
O43819 synthesis of cytochrome C oxidase 2 Enzyme 294 0.479 0.846 7.5E-07 0.010 None 1.000 1 0 2001 2001
Entrez Id: 760
Gene Symbol: CA2
CA2
P00918 carbonic anhydrase 2 210 0.506 0.808 1.7E-06 0.010 None 1.000 1 0 2001 2001
Entrez Id: 1406
Gene Symbol: CRX
CRX
O43186 cone-rod homeobox Transcription factor 128 0.565 0.692 0.51 0.010 None < 0.001 1 0 2001 2001
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
P60201 proteolipid protein 1 Cellular structure 160 0.543 0.769 0.93 0.040 None 1.000 4 0 2002 2020
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 212 0.533 0.769 1.00 0.030 None 1.000 3 0 2002 2016