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:	1605
Gene Symbol:	DAG1

DAG1

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

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

26301688

2015

Entrez Id:	253039
Gene Symbol:	CUTALP

CUTALP

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:	2859
Gene Symbol:	GPR35

GPR35

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

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

26301688

2015

Entrez Id:	105374540
Gene Symbol:	LINC02357

LINC02357

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:	11273
Gene Symbol:	ATXN2L

ATXN2L

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

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

26301688

2015

Entrez Id:	10125
Gene Symbol:	RASGRP1

RASGRP1

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:	4088
Gene Symbol:	SMAD3

SMAD3

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

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

26301688

2015

Entrez Id:	7173
Gene Symbol:	TPO

TPO

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:	9966
Gene Symbol:	TNFSF15

TNFSF15

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

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

26301688

2015

Entrez Id:	6775
Gene Symbol:	STAT4

STAT4

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:	90134
Gene Symbol:	KCNH7

KCNH7

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:	57178
Gene Symbol:	ZMIZ1

ZMIZ1

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

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

26301688

2015

Entrez Id:	57514
Gene Symbol:	ARHGAP31

ARHGAP31

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:	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

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

26301688

2015

Entrez Id:	6821
Gene Symbol:	SUOX

SUOX

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

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

26301688

2015

Entrez Id:	79722
Gene Symbol:	ANKRD55

ANKRD55

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

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

26301688

2015

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:	91074
Gene Symbol:	ANKRD30A

ANKRD30A

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

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.100

GeneticVariation

GWASCAT

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

26301688

2015

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