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:	10451
Gene Symbol:	VAV3

VAV3

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:	399715
Gene Symbol:	LINC02649

LINC02649

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:	23505
Gene Symbol:	TMEM131

TMEM131

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

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:	5711
Gene Symbol:	PSMD5

PSMD5

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:	84461
Gene Symbol:	NEURL4

NEURL4

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:	116028
Gene Symbol:	RMI2

RMI2

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:	26191
Gene Symbol:	PTPN22

PTPN22

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:	7038
Gene Symbol:	TG

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:	2191
Gene Symbol:	FAP

FAP

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:	4914
Gene Symbol:	NTRK1

NTRK1

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:	2322
Gene Symbol:	FLT3

FLT3

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:	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:	10019
Gene Symbol:	SH2B3

SH2B3

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:	5878
Gene Symbol:	RAB5C

RAB5C

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:	4982
Gene Symbol:	TNFRSF11B

TNFRSF11B

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:	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:	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:	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:	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:	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:	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