Source: INFERRED

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: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 1.000 1 4 2010 2010
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		aconitase 2 0.619 0.654 0.21
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1 		acyl-CoA oxidase 1 0.610 0.731 6.2E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 132
Gene Symbol: ADK
ADK 		adenosine kinase 0.584 0.769 3.1E-04
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 2
Entrez Id: 9255
Gene Symbol: AIMP1
AIMP1 		aminoacyl tRNA synthetase complex interacting multifunctional protein 1 0.566 0.769 3.0E-07
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 56052
Gene Symbol: ALG1
ALG1 		ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase 0.610 0.808 3.6E-19
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 3
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A 		AT-rich interaction domain 1A 0.455 0.846 1.00
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 2
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 9915
Gene Symbol: ARNT2
ARNT2 		aryl hydrocarbon receptor nuclear translocator 2 0.599 0.731 0.99
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 170302
Gene Symbol: ARX
ARX 		aristaless related homeobox 0.516 0.654 0.91
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		ATP synthase F0 subunit 6 0.541 0.731
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 57003
Gene Symbol: CCDC47
CCDC47 		coiled-coil domain containing 47 0.678 0.462 6.1E-08
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2 		contactin associated protein 2 0.530 0.846 2.9E-09
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 84342
Gene Symbol: COG8
COG8 		component of oligomeric golgi complex 8 0.653 0.500 3.0E-09
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 1476
Gene Symbol: CSTB
CSTB 		cystatin B 0.530 0.692 6.6E-03
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 1496
Gene Symbol: CTNNA2
CTNNA2 		catenin alpha 2 0.663 0.500 0.43
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2 		catenin delta 2 0.579 0.731 1.00
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 1528
Gene Symbol: CYB5A
CYB5A 		cytochrome b5 type A 0.601 0.654 1.6E-03
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0