DisGeNET - a database of gene-disease associations

CIITA, class II major histocompatibility complex transactivator, 4261

N. diseases: 149; N. variants: 16

Disease: Bare Lymphocyte Syndrome, Type II, Complementation Group A ×

Source: ALL

Results per page

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C1859534
Disease:	Bare Lymphocyte Syndrome, Type II, Complementation Group A

Bare Lymphocyte Syndrome, Type II, Complementation Group A

0.400

Biomarker

disease

GENOMICS_ENGLAND

Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency.

11862382

2002

CUI:	C1859534
Disease:	Bare Lymphocyte Syndrome, Type II, Complementation Group A

Bare Lymphocyte Syndrome, Type II, Complementation Group A

0.400

CausalMutation

disease

CLINVAR