DisGeNET - a database of gene-disease associations

Source: GWASCAT

Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 ×

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	9047
Gene Symbol:	SH2D2A

SH2D2A

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	113
Gene Symbol:	ADCY7

ADCY7

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	151963
Gene Symbol:	MB21D2

MB21D2

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	4026
Gene Symbol:	LPP

LPP

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	10154
Gene Symbol:	PLXNC1

PLXNC1

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	374470
Gene Symbol:	C12orf42

C12orf42

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	101927774
Gene Symbol:	LINC00824

LINC00824

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	7332
Gene Symbol:	UBE2L3

UBE2L3

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	3663
Gene Symbol:	IRF5

IRF5

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	53347
Gene Symbol:	UBASH3A

UBASH3A

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	5771
Gene Symbol:	PTPN2

PTPN2

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	59338
Gene Symbol:	PLEKHA1

PLEKHA1

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	126129
Gene Symbol:	CPT1C

CPT1C

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	8840
Gene Symbol:	CCN4

CCN4

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	100506457
Gene Symbol:	MIR3681HG

MIR3681HG

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	814
Gene Symbol:	CAMK4

CAMK4

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	3559
Gene Symbol:	IL2RA

IL2RA

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	105370177
Gene Symbol:	LINC02341

LINC02341

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	10666
Gene Symbol:	CD226

CD226

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	221178
Gene Symbol:	SPATA13

SPATA13

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	60468
Gene Symbol:	BACH2

BACH2

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	6584
Gene Symbol:	SLC22A5

SLC22A5

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	10301
Gene Symbol:	DLEU1

DLEU1

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	114904
Gene Symbol:	C1QTNF6

C1QTNF6

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	7297
Gene Symbol:	TYK2

TYK2

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019