DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA ×

Gene: NFE2L2 ×

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:

rs1057519922

NFE2L2

CUI:	C4540293
Disease:	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA

IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA

0.800

GeneticVariation

UNIPROT

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder.

29018201

2017

dbSNP:

rs1057519922

NFE2L2

CUI:	C4540293
Disease:	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA

IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA

0.800

CausalMutation

CLINVAR

dbSNP:

rs1553487942

NFE2L2

CUI:	C4540293
Disease:	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA

IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA

0.800

GeneticVariation

UNIPROT

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder.

29018201

2017

dbSNP:

rs1553487942

NFE2L2

CUI:	C4540293
Disease:	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA

IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA

0.800

CausalMutation

CLINVAR

dbSNP:

rs1553487947

NFE2L2

CUI:	C4540293
Disease:	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA

IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA

0.800

GeneticVariation

UNIPROT

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder.

29018201

2017

dbSNP:

rs1553487947

NFE2L2

CUI:	C4540293
Disease:	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA

IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA

0.800

CausalMutation

CLINVAR

dbSNP:

rs1553488015

NFE2L2

CUI:	C4540293
Disease:	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA

IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA

0.800

GeneticVariation

UNIPROT

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder.

29018201

2017

dbSNP:

rs1553488015

NFE2L2

CUI:	C4540293
Disease:	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA

IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA

0.800

CausalMutation

CLINVAR