Source: CLINGEN

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: 5063
Gene Symbol: PAK3
PAK3 		p21 (RAC1) activated kinase 3 0.569 0.731 0.99
CUI: C0796250
Disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME 		disease 0.300 definitive 1.000 12 0 1998 2018
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C0796250
Disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME 		disease 0.300 definitive 1.000 8 0 2007 2017
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3 		glutamate ionotropic receptor AMPA type subunit 3 0.566 0.692 1.00
CUI: C0796250
Disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME 		disease 0.300 limited 1.000 6 0 1999 2014
Entrez Id: 6134
Gene Symbol: RPL10
RPL10 		ribosomal protein L10 0.568 0.731 0.91
CUI: C0796250
Disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME 		disease 0.300 limited 1.000 6 0 2006 2018
Entrez Id: 254065
Gene Symbol: BRWD3
BRWD3 		bromodomain and WD repeat domain containing 3 0.716 0.538 1.00
CUI: C0796250
Disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME 		disease 0.300 definitive 1.000 4 0 2007 2017
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		lysine demethylase 5C 0.581 0.538 1.00
CUI: C0796250
Disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME 		disease 0.300 definitive 1.000 3 0 2005 2016