Source: CLINVAR

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 0.977 132 316 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 0 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 0 1 2017 2018
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