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: 2904
Gene Symbol: GRIN2B
GRIN2B 		glutamate ionotropic receptor NMDA type subunit 2B 0.510 0.692 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
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: 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: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 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: 3708
Gene Symbol: ITPR1
ITPR1 		inositol 1,4,5-trisphosphate receptor type 1 0.534 0.846 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 1.000 1 1 2018 2018
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: 51111
Gene Symbol: KMT5B
KMT5B 		lysine methyltransferase 5B 0.736 0.423 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
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: 22983
Gene Symbol: MAST1
MAST1 		microtubule associated serine/threonine kinase 1 0.711 0.385 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
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: 23389
Gene Symbol: MED13L
MED13L 		mediator complex subunit 13L 0.617 0.538 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.120 None 1.000 0 2 2015 2019
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: 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: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
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: 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: 26960
Gene Symbol: NBEA
NBEA 		neurobeachin 0.760 0.538 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 1.000 1 2 2018 2018
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: 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: 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: 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: 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: 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