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: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		SCN1A and SCN9A antisense RNA 1 0.636 0.346
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 1
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8 		ERCC excision repair 8, CSA ubiquitin ligase complex subunit 0.551 0.885 2.8E-15
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 1
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 2
Entrez Id: 134728
Gene Symbol: IRAK1BP1
IRAK1BP1 		interleukin 1 receptor associated kinase 1 binding protein 1 0.780 0.346 1.4E-06
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 4
Entrez Id: 147429
Gene Symbol: AQP4-AS1
AQP4-AS1 		AQP4 antisense RNA 1 0.751 0.577
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 1
Entrez Id: 220296
Gene Symbol: HEPACAM
HEPACAM 		hepatic and glial cell adhesion molecule 0.621 0.500 0.87
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 1
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		zinc finger DHHC-type containing 24 0.722 0.462 4.2E-04
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 1
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 1
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		G protein subunit alpha o1 0.523 0.808 0.99
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 1
Entrez Id: 361
Gene Symbol: AQP4
AQP4 		aquaporin 4 0.456 0.885 2.3E-03
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 1
Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1 		potassium calcium-activated channel subfamily M alpha 1 0.518 0.846 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 1
Entrez Id: 49855
Gene Symbol: SCAPER
SCAPER 		S-phase cyclin A associated protein in the ER 0.653 0.500 8.8E-03
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 1
Entrez Id: 9126
Gene Symbol: SMC3
SMC3 		structural maintenance of chromosomes 3 0.535 0.846 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 1