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: 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: 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 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 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 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 		G 0.800 CausalMutation CLINVAR
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: rs104894323
rs104894323
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104894325
rs104894325
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057520542
rs1057520542
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs193922703
rs193922703
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs193922704
rs193922704
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs387906328
rs387906328
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs387906329
rs387906329
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		G 0.700 CausalMutation CLINVAR
dbSNP: rs762590894
rs762590894
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.700 GeneticVariation UNIPROT A novel activation-induced cytidine deaminase (AID) mutation in Brazilian patients with hyper-IgM type 2 syndrome. 23803409 2013
dbSNP: rs762590894
rs762590894
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.700 GeneticVariation UNIPROT Activation induced cytidine deaminase mutant (AID-His130Pro) from Hyper IgM 2 patient retained mutagenic activity on SHM artificial substrate. 27716525 2016
dbSNP: rs762590894
rs762590894
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.700 GeneticVariation UNIPROT Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). 11007475 2000
dbSNP: rs762590894
rs762590894
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.700 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: rs762590894
rs762590894
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.700 GeneticVariation UNIPROT Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. 26545377 2016
dbSNP: rs200858797
rs200858797
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C1720956
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.010 GeneticVariation BEFREE Screening of all currently known Finnish patients with an HIGM2 phenotype showed them to be homozygous for p.(Met139Thr). 27142677 2016