DisGeNET - a database of gene-disease associations

Delayed speech and language development, C0454644

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Source: ALL

Results per page

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:	80208
Gene Symbol:	SPG11

SPG11

0.100

CausalMutation

phenotype

CLINVAR

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.

2009

Entrez Id:	103
Gene Symbol:	ADAR

ADAR

0.100

Biomarker

phenotype

HPO

Entrez Id:	10157
Gene Symbol:	AASS

AASS

0.100

Biomarker

phenotype

HPO

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

0.100

Biomarker

phenotype

HPO

Entrez Id:	10522
Gene Symbol:	DEAF1

DEAF1

0.100

Biomarker

phenotype

HPO

Entrez Id:	6328
Gene Symbol:	SCN3A

SCN3A

0.100

Biomarker

phenotype

HPO

Entrez Id:	64324
Gene Symbol:	NSD1

NSD1

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	79876
Gene Symbol:	UBA5

UBA5

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	6942
Gene Symbol:	TCF20

TCF20

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	54768
Gene Symbol:	HYDIN

HYDIN

0.100

Biomarker

phenotype

HPO

Entrez Id:	2314
Gene Symbol:	FLII

FLII

0.100

Biomarker

phenotype

HPO

Entrez Id:	7430
Gene Symbol:	EZR

EZR

0.100

Biomarker

phenotype

HPO

Entrez Id:	9496
Gene Symbol:	TBX4

TBX4

0.100

Biomarker

phenotype

HPO

Entrez Id:	10978
Gene Symbol:	CLP1

CLP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	6016
Gene Symbol:	RIT1

RIT1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	4983
Gene Symbol:	OPHN1

OPHN1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1748
Gene Symbol:	DLX4

DLX4

0.100

Biomarker

phenotype

HPO

Entrez Id:	56776
Gene Symbol:	FMN2

FMN2

0.100

Biomarker

phenotype

HPO

Entrez Id:	132
Gene Symbol:	ADK

ADK

0.100

Biomarker

phenotype

HPO

Entrez Id:	672
Gene Symbol:	BRCA1

BRCA1

0.100

Biomarker

phenotype

HPO

Entrez Id:	23325
Gene Symbol:	WASHC4

WASHC4

0.100

Biomarker

phenotype

HPO

Entrez Id:	22907
Gene Symbol:	DHX30

DHX30

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	145624
Gene Symbol:	PWAR1

PWAR1

0.100

Biomarker

phenotype

HPO

Entrez Id:	501
Gene Symbol:	ALDH7A1

ALDH7A1

0.100

Biomarker

phenotype

HPO