Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 1.000 definitive 0.977 815 345 1975 2020
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		cyclin dependent kinase like 5 0.522 0.692 1.00
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 0.500 None 0.962 78 3 2004 2019
Entrez Id: 9568
Gene Symbol: GABBR2
GABBR2 		gamma-aminobutyric acid type B receptor subunit 2 0.650 0.538 1.00
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 0.410 strong 1.000 2 1 2017 2018
Entrez Id: 1959
Gene Symbol: EGR2
EGR2 		early growth response 2 0.547 0.769 0.50
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 0.310 None 1.000 1 0 2009 2009
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1 		forkhead box G1 0.522 0.692 0.94
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 0.300 None 1.000 43 2 2008 2019
Entrez Id: 5770
Gene Symbol: PTPN1
PTPN1 		protein tyrosine phosphatase non-receptor type 1 0.523 0.731 0.81
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 0.100 None 1.000 29 0 1995 2019
Entrez Id: 627
Gene Symbol: BDNF
BDNF 		brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 0.100 None 0.944 18 4 2006 2018
Entrez Id: 30827
Gene Symbol: CXXC1
CXXC1 		CXXC finger protein 1 0.792 0.385 0.90
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 0.100 None 1.000 18 0 2000 2019
Entrez Id: 23221
Gene Symbol: RHOBTB2
RHOBTB2 		Rho related BTB domain containing 2 0.631 0.615 1.3E-02
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 0.100 None 0 1
Entrez Id: 1977
Gene Symbol: EIF4E
EIF4E 		eukaryotic translation initiation factor 4E 0.448 0.846 0.94
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 0.080 None 1.000 8 0 1997 2016
Entrez Id: 57060
Gene Symbol: PCBP4
PCBP4 		poly(rC) binding protein 4 0.523 0.808 2.4E-03
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 0.080 None 1.000 8 0 1997 2016
Entrez Id: 55824
Gene Symbol: PAG1
PAG1 		phosphoprotein membrane anchor with glycosphingolipid microdomains 1 0.505 0.808 1.8E-02
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 0.080 None 1.000 8 0 1997 2016
Entrez Id: 5956
Gene Symbol: OPN1LW
OPN1LW 		opsin 1, long wave sensitive 0.497 0.808 0.98
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 0.080 None 1.000 8 0 1997 2016
Entrez Id: 1749
Gene Symbol: DLX5
DLX5 		distal-less homeobox 5 0.604 0.692 0.22
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 0.060 None 1.000 6 0 2005 2016
Entrez Id: 3479
Gene Symbol: IGF1
IGF1 		insulin like growth factor 1 0.318 0.885 0.27
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 0.050 None 1.000 5 0 2014 2019
Entrez Id: 22854
Gene Symbol: NTNG1
NTNG1 		netrin G1 0.650 0.423 0.92
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 0.040 None 1.000 4 0 2005 2019
Entrez Id: 84628
Gene Symbol: NTNG2
NTNG2 		netrin G2 0.700 0.423 1.00
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 0.040 None 1.000 4 0 2005 2019
Entrez Id: 6853
Gene Symbol: SYN1
SYN1 		synapsin I 0.597 0.462 0.99
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 0.040 None 1.000 4 1 1986 2016
Entrez Id: 1385
Gene Symbol: CREB1
CREB1 		cAMP responsive element binding protein 1 0.463 0.885 1.00
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 0.040 None 0.750 4 0 2003 2017
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5 		solute carrier family 12 member 5 0.570 0.654 1.00
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 0.040 None 1.000 4 0 2013 2019
Entrez Id: 5348
Gene Symbol: FXYD1
FXYD1 		FXYD domain containing ion transport regulator 1 0.682 0.385 0.24
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 0.030 None 1.000 3 0 2007 2018
Entrez Id: 7054
Gene Symbol: TH
TH 		tyrosine hydroxylase 0.462 0.885 1.7E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 0.030 None 1.000 3 0 2001 2007
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 0.030 None 1.000 3 0 2010 2014
Entrez Id: 3553
Gene Symbol: IL1B
IL1B 		interleukin 1 beta 0.276 0.962 0.13
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 0.030 None 1.000 3 0 2010 2018