DisGeNET - a database of gene-disease associations

Moderate global developmental delay, C2237142

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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:	1950
Gene Symbol:	EGF

EGF

0.100

Biomarker

phenotype

HPO

Entrez Id:	3712
Gene Symbol:	IVD

IVD

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	23394
Gene Symbol:	ADNP

ADNP

0.100

Biomarker

phenotype

HPO

Entrez Id:	9354
Gene Symbol:	UBE4A

UBE4A

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

0.100

Biomarker

phenotype

HPO

Entrez Id:	64207
Gene Symbol:	IRF2BPL

IRF2BPL

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	6389
Gene Symbol:	SDHA

SDHA

0.100

Biomarker

phenotype

HPO

Entrez Id:	7174
Gene Symbol:	TPP2

TPP2

0.100

Biomarker

phenotype

HPO

Entrez Id:	3034
Gene Symbol:	HAL

HAL

0.100

Biomarker

phenotype

HPO

Entrez Id:	57492
Gene Symbol:	ARID1B

ARID1B

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	26137
Gene Symbol:	ZBTB20

ZBTB20

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	644096
Gene Symbol:	SDHAF1

SDHAF1

0.100

Biomarker

phenotype

HPO

Entrez Id:	5238
Gene Symbol:	PGM3

PGM3

0.100

Biomarker

phenotype

HPO

Entrez Id:	51322
Gene Symbol:	WAC

WAC

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	54968
Gene Symbol:	TMEM70

TMEM70

0.100

Biomarker

phenotype

HPO

Entrez Id:	523
Gene Symbol:	ATP6V1A

ATP6V1A

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	10716
Gene Symbol:	TBR1

TBR1

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	9496
Gene Symbol:	TBX4

TBX4

0.100

Biomarker

phenotype

HPO

Entrez Id:	26227
Gene Symbol:	PHGDH

PHGDH

0.100

Biomarker

phenotype

HPO

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	9131
Gene Symbol:	AIFM1

AIFM1

0.100

Biomarker

phenotype

HPO

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

0.100

Biomarker

phenotype

HPO

Entrez Id:	6595
Gene Symbol:	SMARCA2

SMARCA2

0.100

GeneticVariation

phenotype

CLINVAR