Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4261
Gene Symbol: CIITA
CIITA
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2 		0.720 GeneticVariation UNIPROT Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency. 11862382

2002
Entrez Id: 4261
Gene Symbol: CIITA
CIITA
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2 		0.720 GeneticVariation UNIPROT Mutation in the class II trans-activator leading to a mild immunodeficiency. 11466404

2001
Entrez Id: 4261
Gene Symbol: CIITA
CIITA
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2 		0.720 GeneticVariation UNIPROT Absence of MHC class II gene expression in a patient with a single amino acid substitution in the class II transactivator protein CIITA. 10501838

1999
Entrez Id: 4261
Gene Symbol: CIITA
CIITA
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2 		0.720 GeneticVariation UNIPROT Activation of class II MHC genes requires both the X box region and the class II transactivator (CIITA). 7749984

1995
Entrez Id: 4261
Gene Symbol: CIITA
CIITA
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2 		0.720 GeneticVariation UNIPROT Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). 8402893

1993