AICDA, activation induced cytidine deaminase, 57379

N. diseases: 265; N. variants: 16
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894320
rs104894320
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Activation induced cytidine deaminase mutant (AID-His130Pro) from Hyper IgM 2 patient retained mutagenic activity on SHM artificial substrate. 27716525 2016
dbSNP: rs104894320
rs104894320
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. 26545377 2016
dbSNP: rs104894321
rs104894321
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. 26545377 2016
dbSNP: rs104894321
rs104894321
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Activation induced cytidine deaminase mutant (AID-His130Pro) from Hyper IgM 2 patient retained mutagenic activity on SHM artificial substrate. 27716525 2016
dbSNP: rs104894322
rs104894322
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Activation induced cytidine deaminase mutant (AID-His130Pro) from Hyper IgM 2 patient retained mutagenic activity on SHM artificial substrate. 27716525 2016
dbSNP: rs104894322
rs104894322
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. 26545377 2016
dbSNP: rs104894324
rs104894324
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. 26545377 2016
dbSNP: rs104894324
rs104894324
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Activation induced cytidine deaminase mutant (AID-His130Pro) from Hyper IgM 2 patient retained mutagenic activity on SHM artificial substrate. 27716525 2016
dbSNP: rs104894327
rs104894327
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. 26545377 2016
dbSNP: rs104894327
rs104894327
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Activation induced cytidine deaminase mutant (AID-His130Pro) from Hyper IgM 2 patient retained mutagenic activity on SHM artificial substrate. 27716525 2016
dbSNP: rs104894320
rs104894320
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.800 GeneticVariation UNIPROT A novel activation-induced cytidine deaminase (AID) mutation in Brazilian patients with hyper-IgM type 2 syndrome. 23803409 2013
dbSNP: rs104894321
rs104894321
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.800 GeneticVariation UNIPROT A novel activation-induced cytidine deaminase (AID) mutation in Brazilian patients with hyper-IgM type 2 syndrome. 23803409 2013
dbSNP: rs104894322
rs104894322
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.800 GeneticVariation UNIPROT A novel activation-induced cytidine deaminase (AID) mutation in Brazilian patients with hyper-IgM type 2 syndrome. 23803409 2013
dbSNP: rs104894324
rs104894324
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.800 GeneticVariation UNIPROT A novel activation-induced cytidine deaminase (AID) mutation in Brazilian patients with hyper-IgM type 2 syndrome. 23803409 2013
dbSNP: rs104894327
rs104894327
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.800 GeneticVariation UNIPROT A novel activation-induced cytidine deaminase (AID) mutation in Brazilian patients with hyper-IgM type 2 syndrome. 23803409 2013
dbSNP: rs104894320
rs104894320
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency. 14962793 2004
dbSNP: rs104894321
rs104894321
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency. 14962793 2004
dbSNP: rs104894322
rs104894322
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency. 14962793 2004
dbSNP: rs104894324
rs104894324
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency. 14962793 2004
dbSNP: rs104894327
rs104894327
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency. 14962793 2004
dbSNP: rs104894320
rs104894320
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). 11007475 2000
dbSNP: rs104894321
rs104894321
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). 11007475 2000
dbSNP: rs104894322
rs104894322
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). 11007475 2000
dbSNP: rs104894324
rs104894324
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). 11007475 2000
dbSNP: rs104894327
rs104894327
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). 11007475 2000