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: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		disease 0.300 definitive 1.000 15 0 2008 2017
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		disease 0.300 definitive 1.000 12 0 1991 2016
Entrez Id: 24140
Gene Symbol: FTSJ1
FTSJ1 		FtsJ RNA 2'-O-methyltransferase 1 0.659 0.577 0.99
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		disease 0.300 moderate 1.000 7 0 1993 2015
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4 		acyl-CoA synthetase long chain family member 4 0.561 0.769 0.98
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		disease 0.300 moderate 1.000 7 0 2002 2016
Entrez Id: 1741
Gene Symbol: DLG3
DLG3 		discs large MAGUK scaffold protein 3 0.544 0.615 1.00
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		disease 0.300 definitive 1.000 7 0 2004 2016
Entrez Id: 2664
Gene Symbol: GDI1
GDI1 		GDP dissociation inhibitor 1 0.572 0.654 0.99
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		disease 0.300 moderate 1.000 6 0 1997 2012
Entrez Id: 186
Gene Symbol: AGTR2
AGTR2 		angiotensin II receptor type 2 0.496 0.808 8.2E-03
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		disease 0.300 disputed 1.000 5 0 2002 2013
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1 		patched domain containing 1 0.678 0.385 0.98
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		disease 0.300 definitive 1.000 5 0 2010 2016
Entrez Id: 6855
Gene Symbol: SYP
SYP 		synaptophysin 0.481 0.808 0.92
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		disease 0.300 limited 1.000 4 0 2009 2017
Entrez Id: 7552
Gene Symbol: ZNF711
ZNF711 		zinc finger protein 711 0.691 0.423 0.98
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		disease 0.300 limited 1.000 4 0 2009 2017
Entrez Id: 9459
Gene Symbol: ARHGEF6
ARHGEF6 		Rac/Cdc42 guanine nucleotide exchange factor 6 0.678 0.462 1.00
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		disease 0.300 limited 1.000 4 0 2000 2012
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4 		chloride voltage-gated channel 4 0.587 0.654 1.00
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		disease 0.300 definitive 1.000 3 0 2013 2018
Entrez Id: 347344
Gene Symbol: ZNF81
ZNF81 		zinc finger protein 81 0.705 0.385 0.55
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		disease 0.300 disputed 0 0