Source: MGD

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: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1 		platelet activating factor acetylhydrolase 1b regulatory subunit 1 0.504 0.769 1.00
CUI: C0266483
Disease: Pachygyria
Pachygyria 		disease 0.650 None 1.000 3 0 1998 2018
Entrez Id: 1641
Gene Symbol: DCX
DCX 		doublecortin 0.511 0.769 0.30
CUI: C0266483
Disease: Pachygyria
Pachygyria 		disease 0.350 None 1.000 1 0 2006 2019
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A 		tubulin alpha 1a 0.597 0.769 0.97
CUI: C0266483
Disease: Pachygyria
Pachygyria 		disease 0.340 None 1.000 1 0 2007 2013
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B 		tubulin beta 2B class IIb 0.610 0.385 0.99
CUI: C0266483
Disease: Pachygyria
Pachygyria 		disease 0.310 None 1.000 1 0 2012 2013
Entrez Id: 170302
Gene Symbol: ARX
ARX 		aristaless related homeobox 0.516 0.654 0.91
CUI: C0266483
Disease: Pachygyria
Pachygyria 		disease 0.300 None 1.000 2 0 2002 2009
Entrez Id: 1605
Gene Symbol: DAG1
DAG1 		dystroglycan 1 0.498 0.808 0.98
CUI: C0266483
Disease: Pachygyria
Pachygyria 		disease 0.300 None 0 0
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2 		contactin associated protein 2 0.530 0.846 2.9E-09
CUI: C0266483
Disease: Pachygyria
Pachygyria 		disease 0.200 None 1.000 1 0 2011 2011
Entrez Id: 7545
Gene Symbol: ZIC1
ZIC1 		Zic family member 1 0.545 0.731 0.93
CUI: C0266483
Disease: Pachygyria
Pachygyria 		disease 0.200 None 0 0