DisGeNET - a database of gene-disease associations

Expressive language delay, C0454641

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Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	100532724
Gene Symbol:	NPHP3-ACAD11

NPHP3-ACAD11

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	1778
Gene Symbol:	DYNC1H1

DYNC1H1

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	104472715
Gene Symbol:	SNHG14

SNHG14

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	7337
Gene Symbol:	UBE3A

UBE3A

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	93986
Gene Symbol:	FOXP2

FOXP2

0.100

Biomarker

phenotype

HPO

Entrez Id:	9772
Gene Symbol:	TMEM94

TMEM94

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	26053
Gene Symbol:	AUTS2

AUTS2

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	201163
Gene Symbol:	FLCN

FLCN

0.100

Biomarker

phenotype

HPO

Entrez Id:	80816
Gene Symbol:	ASXL3

ASXL3

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	100532724
Gene Symbol:	NPHP3-ACAD11

NPHP3-ACAD11

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	10381
Gene Symbol:	TUBB3

TUBB3

0.100

Biomarker

phenotype

HPO

Entrez Id:	6389
Gene Symbol:	SDHA

SDHA

0.100

Biomarker

phenotype

HPO

Entrez Id:	2775
Gene Symbol:	GNAO1

GNAO1

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	79876
Gene Symbol:	UBA5

UBA5

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	10020
Gene Symbol:	GNE

GNE

0.100

Biomarker

phenotype

HPO

Entrez Id:	644096
Gene Symbol:	SDHAF1

SDHAF1

0.100

Biomarker

phenotype

HPO

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	64324
Gene Symbol:	NSD1

NSD1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1859
Gene Symbol:	DYRK1A

DYRK1A

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	22827
Gene Symbol:	PUF60

PUF60

0.100

Biomarker

phenotype

HPO

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

0.100

Biomarker

phenotype

HPO

Entrez Id:	10847
Gene Symbol:	SRCAP

SRCAP

0.100

Biomarker

phenotype

HPO

Entrez Id:	79876
Gene Symbol:	UBA5

UBA5

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	7874
Gene Symbol:	USP7

USP7

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	2782
Gene Symbol:	GNB1

GNB1

0.100

Biomarker

phenotype

HPO