DisGeNET - a database of gene-disease associations

CTLA4, cytotoxic T-lymphocyte associated protein 4, 1493

N. diseases: 722; N. variants: 24

Disease: CTLA4 Haploinsufficiency ×

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Source: ALL

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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

Disease

Type

Disease Class

Semantic Type

N. genes_d

N. SNPs_d

Score _gda

EL _gda

EI _gda

N. PMIDs

N. SNPs _gda

First Ref.

Last Ref.

CUI:	C4015214
Disease:	CTLA4 Haploinsufficiency

CTLA4 Haploinsufficiency

disease

Immune System Diseases

Disease or Syndrome

6

7

0.750

strong

1.000

6

5

2014

2019