Source: CURATED

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: 26047
Gene Symbol: CNTNAP2
CNTNAP2 		contactin associated protein 2 0.530 0.846 2.9E-09
CUI: C0023012
Disease: Language Delay
Language Delay 		phenotype 0.300 None 1.000 3 0 2010 2011
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		SH3 and multiple ankyrin repeat domains 3 0.550 0.731 1.00
CUI: C0023012
Disease: Language Delay
Language Delay 		phenotype 0.300 None 1.000 2 0 2006 2007
Entrez Id: 1806
Gene Symbol: DPYD
DPYD 		dihydropyrimidine dehydrogenase 0.493 0.846 3.4E-22
CUI: C0023012
Disease: Language Delay
Language Delay 		phenotype 0.300 None 1.000 1 0 2011 2011
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		neurexin 1 0.581 0.692 1.00
CUI: C0023012
Disease: Language Delay
Language Delay 		phenotype 0.300 None 1.000 1 0 2011 2011
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0023012
Disease: Language Delay
Language Delay 		phenotype 0.300 None 1.000 1 0 1997 1997
Entrez Id: 53335
Gene Symbol: BCL11A
BCL11A 		BAF chromatin remodeling complex subunit BCL11A 0.541 0.769 0.97
CUI: C0023012
Disease: Language Delay
Language Delay 		phenotype 0.300 None 1.000 1 0 2016 2016
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2 		potassium voltage-gated channel subfamily A member 2 0.612 0.577 0.91
CUI: C0023012
Disease: Language Delay
Language Delay 		phenotype 0.300 None 1.000 1 0 2015 2015
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A 		glutamate ionotropic receptor NMDA type subunit 2A 0.522 0.808 1.00
CUI: C0023012
Disease: Language Delay
Language Delay 		phenotype 0.300 None 1.000 1 0 2013 2013
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1 		SET binding protein 1 0.503 0.808 1.00
CUI: C0023012
Disease: Language Delay
Language Delay 		phenotype 0.300 None 1.000 1 0 2014 2014
Entrez Id: 2077
Gene Symbol: ERF
ERF 		ETS2 repressor factor 0.572 0.654 0.99
CUI: C0023012
Disease: Language Delay
Language Delay 		phenotype 0.300 None 1.000 1 0 2013 2013
Entrez Id: 93986
Gene Symbol: FOXP2
FOXP2 		forkhead box P2 0.545 0.808 1.00
CUI: C0023012
Disease: Language Delay
Language Delay 		phenotype 0.300 None 1.000 1 0 2016 2016