Source: CURATED

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 50 335 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 1 2 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: 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