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: 3786
Gene Symbol: KCNQ3
KCNQ3 		potassium voltage-gated channel subfamily Q member 3 0.604 0.462 0.80
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A 		ATPase H+ transporting V1 subunit A 0.579 0.615 0.87
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1 		forkhead box G1 0.522 0.692 0.94
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2 		BR serine/threonine kinase 2 0.700 0.500 0.95
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 1.000 1 2 2019 2019
Entrez Id: 5898
Gene Symbol: RALA
RALA 		RAS like proto-oncogene A 0.656 0.577 0.97
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8 		histone deacetylase 8 0.511 0.885 0.98
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 7552
Gene Symbol: ZNF711
ZNF711 		zinc finger protein 711 0.691 0.423 0.98
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 1.000 2 1 2009 2017
Entrez Id: 203068
Gene Symbol: TUBB
TUBB 		tubulin beta class I 0.603 0.692 0.98
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 1.000 4 1 2011 2016
Entrez Id: 23299
Gene Symbol: BICD2
BICD2 		BICD cargo adaptor 2 0.615 0.731 0.98
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: 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: 10472
Gene Symbol: ZBTB18
ZBTB18 		zinc finger and BTB domain containing 18 0.666 0.500 1.00
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: 10716
Gene Symbol: TBR1
TBR1 		T-box brain transcription factor 1 0.666 0.385 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: 57178
Gene Symbol: ZMIZ1
ZMIZ1 		zinc finger MIZ-type containing 1 0.588 0.615 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
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: 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: 5530
Gene Symbol: PPP3CA
PPP3CA 		protein phosphatase 3 catalytic subunit alpha 0.568 0.769 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 5528
Gene Symbol: PPP2R5D
PPP2R5D 		protein phosphatase 2 regulatory subunit B'delta 0.722 0.462 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2 		IQ motif and Sec7 domain ArfGEF 2 0.573 0.577 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		SATB homeobox 2 0.503 0.769 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 2
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 1.000 1 1 2017 2017