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: rs3794318
rs3794318
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C0002395
Disease:
Alzheimer's Disease 		A 0.700 GeneticVariation GWASCAT Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. 26830138 2016
dbSNP: rs2028373
rs2028373
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C0004096
Disease:
Asthma 		0.010 GeneticVariation BEFREE Neither the IFNG intron 1 CA repeat nor 465C/T of AICDA showed any association with asthma. 14767694 2004
dbSNP: rs104894324
rs104894324
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C0002876
Disease:
Congenital dyserythropoietic anemia 		0.010 GeneticVariation BEFREE Compound heterozygous mutations in SEC23B gene were detected by the use of a gene-targeted next-generation sequencing panel: the already reported missense mutation c.40C>T (p.Arg14Trp), and a new frameshift deletion (c.489_489delG, p.Val164Trpfs*3), confirming the diagnosis of CDA type II. 29846281 2018
dbSNP: rs104894324
rs104894324
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.010 GeneticVariation BEFREE Herein, we describe three Turkish siblings with HIGM syndrome who had a homozygous missense mutation (c.70C>T, p.Arg24Trp) in the activation-induced cytidine deaminase gene which results in autosomal recessive HIGM syndrome. 26551569 2015
dbSNP: rs104894320
rs104894320
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		G 0.800 CausalMutation CLINVAR
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: 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 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: 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 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 		G 0.800 CausalMutation CLINVAR
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: 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: 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 		C 0.800 CausalMutation CLINVAR
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: 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 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 Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. 26545377 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 (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 		A 0.800 CausalMutation CLINVAR
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: 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