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: 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: 9126
Gene Symbol: SMC3
SMC3 		structural maintenance of chromosomes 3 0.535 0.846 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		synaptic Ras GTPase activating protein 1 0.584 0.577 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
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: 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: 80816
Gene Symbol: ASXL3
ASXL3 		ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 2
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2 		SHOC2 leucine rich repeat scaffold protein 0.593 0.769 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 80155
Gene Symbol: NAA15
NAA15 		N-alpha-acetyltransferase 15, NatA auxiliary subunit 0.700 0.423 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		euchromatic histone lysine methyltransferase 1 0.460 0.808 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
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: 6595
Gene Symbol: SMARCA2
SMARCA2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 0.527 0.769 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 2
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: 6326
Gene Symbol: SCN2A
SCN2A 		sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 2
Entrez Id: 9969
Gene Symbol: MED13
MED13 		mediator complex subunit 13 0.711 0.538 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 473
Gene Symbol: RERE
RERE 		arginine-glutamic acid dipeptide repeats 0.526 0.846 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 1759
Gene Symbol: DNM1
DNM1 		dynamin 1 0.595 0.692 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		DEAD-box helicase 3 X-linked 0.537 0.769 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
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: 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: 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: 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: 112939
Gene Symbol: NACC1
NACC1 		nucleus accumbens associated 1 0.610 0.577 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 1106
Gene Symbol: CHD2
CHD2 		chromodomain helicase DNA binding protein 2 0.585 0.577 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1