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: 57492
Gene Symbol: ARID1B
ARID1B 		AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 1.000 2 6 2012 2015
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 26960
Gene Symbol: NBEA
NBEA 		neurobeachin 0.760 0.538 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 27245
Gene Symbol: AHDC1
AHDC1 		AT-hook DNA binding motif containing 1 0.700 0.500 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 1.000 1 3 2014 2014
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A 		lysine acetyltransferase 6A 0.560 0.769 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 1.000 1 1 2015 2015
Entrez Id: 1106
Gene Symbol: CHD2
CHD2 		chromodomain helicase DNA binding protein 2 0.585 0.577 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		dynein cytoplasmic 1 heavy chain 1 0.547 0.769 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 2
Entrez Id: 196528
Gene Symbol: ARID2
ARID2 		AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 22907
Gene Symbol: DHX30
DHX30 		DExH-box helicase 30 0.722 0.500 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 2
Entrez Id: 22983
Gene Symbol: MAST1
MAST1 		microtubule associated serine/threonine kinase 1 0.711 0.385 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		mediator complex subunit 13L 0.617 0.538 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2 		cytoplasmic FMR1 interacting protein 2 0.633 0.731 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B 		glutamate ionotropic receptor NMDA type subunit 2B 0.510 0.692 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 2
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11 		ankyrin repeat domain 11 0.556 0.808 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 2
Entrez Id: 3054
Gene Symbol: HCFC1
HCFC1 		host cell factor C1 0.601 0.692 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1 		inositol 1,4,5-trisphosphate receptor type 1 0.534 0.846 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 473
Gene Symbol: RERE
RERE 		arginine-glutamic acid dipeptide repeats 0.526 0.846 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 2
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B 		lysine methyltransferase 5B 0.736 0.423 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 4
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 57479
Gene Symbol: PRR12
PRR12 		proline rich 12 0.716 0.385 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 3
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 2