DisGeNET - a database of gene-disease associations

EBF3, EBF transcription factor 3, 253738

N. diseases: 124; N. variants: 15

Disease: Generalized hypotonia ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1057519389

Entrez Id:	253738
Gene Symbol:	EBF3

EBF3

CUI:	C1858120
Disease:

Generalized hypotonia

0.700

CausalMutation

CLINVAR

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

28017372

2017

dbSNP:

rs1057519389

Entrez Id:	253738
Gene Symbol:	EBF3

EBF3

CUI:	C1858120
Disease:

Generalized hypotonia

0.700

CausalMutation

CLINVAR

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

28017372

2017

dbSNP:

rs1057519437

Entrez Id:	253738
Gene Symbol:	EBF3

EBF3

CUI:	C1858120
Disease:

Generalized hypotonia

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057519521

Entrez Id:	253738
Gene Symbol:	EBF3

EBF3

CUI:	C1858120
Disease:

Generalized hypotonia

0.700

CausalMutation

CLINVAR

dbSNP:

rs797046136

Entrez Id:	253738;105378558
Gene Symbol:	EBF3;LOC105378558

EBF3;LOC105378558

CUI:	C1858120
Disease:

Generalized hypotonia

0.700

CausalMutation

CLINVAR