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: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 2
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		laminin subunit alpha 2 0.553 0.692 2.4E-47
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ 		centromere protein J 0.546 0.846 2.1E-27
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 2
Entrez Id: 5746
Gene Symbol: PTH2R
PTH2R 		parathyroid hormone 2 receptor 0.780 0.308 1.4E-20
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 29911
Gene Symbol: HOOK2
HOOK2 		hook microtubule tethering protein 2 0.659 0.654 4.6E-18
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		phosphomannomutase 2 0.535 0.769 1.4E-17
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 57231
Gene Symbol: SNX14
SNX14 		sorting nexin 14 0.659 0.423 6.1E-17
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 2
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8 		ERCC excision repair 8, CSA ubiquitin ligase complex subunit 0.551 0.885 2.8E-15
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1 		adhesion G protein-coupled receptor G1 0.590 0.654 5.3E-10
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 2
Entrez Id: 1644
Gene Symbol: DDC
DDC 		dopa decarboxylase 0.535 0.769 3.8E-08
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 2
Entrez Id: 22941
Gene Symbol: SHANK2
SHANK2 		SH3 and multiple ankyrin repeat domains 2 0.663 0.385 8.4E-07
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 63979
Gene Symbol: FIGNL1
FIGNL1 		fidgetin like 1 0.805 0.385 1.2E-04
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 81570
Gene Symbol: CLPB
CLPB 		caseinolytic mitochondrial matrix peptidase chaperone subunit B 0.631 0.654 5.0E-04
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 2
Entrez Id: 867
Gene Symbol: CBL
CBL 		Cbl proto-oncogene 0.527 0.769 6.1E-04
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		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: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 1.000 1 3 2017 2017
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C 		myocyte enhancer factor 2C 0.517 0.769 1.7E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 10352
Gene Symbol: WARS2
WARS2 		tryptophanyl tRNA synthetase 2, mitochondrial 0.617 0.577 5.1E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 2
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		CDKN1A interacting zinc finger protein 1 0.617 0.500 6.3E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 2900
Gene Symbol: GRIK4
GRIK4 		glutamate ionotropic receptor kainate type subunit 4 0.678 0.423 0.11
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 2
Entrez Id: 6857
Gene Symbol: SYT1
SYT1 		synaptotagmin 1 0.412 0.846 0.60
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 2257
Gene Symbol: FGF12
FGF12 		fibroblast growth factor 12 0.619 0.615 0.62
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1