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:	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:	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:	23266
Gene Symbol:	ADGRL2

ADGRL2

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:	217
Gene Symbol:	ALDH2

ALDH2

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:	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:	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:	84159
Gene Symbol:	ARID5B

ARID5B

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:	55054
Gene Symbol:	ATG16L1

ATG16L1

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:	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:	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:	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:	400757
Gene Symbol:	C1orf141

C1orf141

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:	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:	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:	64170
Gene Symbol:	CARD9

CARD9

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:	283234
Gene Symbol:	CCDC88B

CCDC88B

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:	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:	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:	23418
Gene Symbol:	CRB1

CRB1

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:	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:	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:	9844
Gene Symbol:	ELMO1

ELMO1

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