DisGeNET - a database of gene-disease associations

Source: GWASCAT

Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 ×

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	6775
Gene Symbol:	STAT4

STAT4

CUI:	C4310768
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	84159
Gene Symbol:	ARID5B

ARID5B

CUI:	C4310768
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	10019
Gene Symbol:	SH2B3

SH2B3

CUI:	C4310768
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	9047
Gene Symbol:	SH2D2A

SH2D2A

CUI:	C4310768
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	53347
Gene Symbol:	UBASH3A

UBASH3A

CUI:	C4310768
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	3716
Gene Symbol:	JAK1

JAK1

CUI:	C4310768
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C4310768
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	814
Gene Symbol:	CAMK4

CAMK4

CUI:	C4310768
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	5711
Gene Symbol:	PSMD5

PSMD5

CUI:	C4310768
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	23505
Gene Symbol:	TMEM131

TMEM131

CUI:	C4310768
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	374470
Gene Symbol:	C12orf42

C12orf42

CUI:	C4310768
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	2191
Gene Symbol:	FAP

FAP

CUI:	C4310768
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	4914
Gene Symbol:	NTRK1

NTRK1

CUI:	C4310768
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	3663
Gene Symbol:	IRF5

IRF5

CUI:	C4310768
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	399715
Gene Symbol:	LINC02649

LINC02649

CUI:	C4310768
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	221178
Gene Symbol:	SPATA13

SPATA13

CUI:	C4310768
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	5869
Gene Symbol:	RAB5B

RAB5B

CUI:	C4310768
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	8840
Gene Symbol:	CCN4

CCN4

CUI:	C4310768
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	10301
Gene Symbol:	DLEU1

DLEU1

CUI:	C4310768
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	90134
Gene Symbol:	KCNH7

KCNH7

CUI:	C4310768
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	5771
Gene Symbol:	PTPN2

PTPN2

CUI:	C4310768
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	26191
Gene Symbol:	PTPN22

PTPN22

CUI:	C4310768
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	10154
Gene Symbol:	PLXNC1

PLXNC1

CUI:	C4310768
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	4982
Gene Symbol:	TNFRSF11B

TNFRSF11B

CUI:	C4310768
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	10666
Gene Symbol:	CD226

CD226

CUI:	C4310768
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019