ACAA1, acetyl-CoA acyltransferase 1, 30

N. diseases: 15; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853065
rs137853065
Entrez Id: 30;4615
Gene Symbol: ACAA1;MYD88
ACAA1;MYD88
CUI: C2677092
Disease:
MYD88 Deficiency 		0.800 GeneticVariation UNIPROT Functional assessment of the mutational effects of human IRAK4 and MyD88 genes. 24316379 2014
dbSNP: rs137853065
rs137853065
Entrez Id: 30;4615
Gene Symbol: ACAA1;MYD88
ACAA1;MYD88
CUI: C2677092
Disease:
MYD88 Deficiency 		0.800 GeneticVariation UNIPROT Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. 21057262 2010
dbSNP: rs137853065
rs137853065
Entrez Id: 30;4615
Gene Symbol: ACAA1;MYD88
ACAA1;MYD88
CUI: C2677092
Disease:
MYD88 Deficiency 		0.800 GeneticVariation UNIPROT Structural basis for the multiple interactions of the MyD88 TIR domain in TLR4 signaling. 19506249 2009
dbSNP: rs137853065
rs137853065
Entrez Id: 30;4615
Gene Symbol: ACAA1;MYD88
ACAA1;MYD88
CUI: C2677092
Disease:
MYD88 Deficiency 		0.800 GeneticVariation UNIPROT Pyogenic bacterial infections in humans with MyD88 deficiency. 18669862 2008
dbSNP: rs137853065
rs137853065
Entrez Id: 30;4615
Gene Symbol: ACAA1;MYD88
ACAA1;MYD88
CUI: C2677092
Disease:
MYD88 Deficiency 		C 0.800 CausalMutation CLINVAR
dbSNP: rs746651350
rs746651350
Entrez Id: 30;4615
Gene Symbol: ACAA1;MYD88
ACAA1;MYD88
CUI: C2677092
Disease:
MYD88 Deficiency 		C 0.700 CausalMutation CLINVAR
dbSNP: rs878852993
rs878852993
Entrez Id: 30;4615
Gene Symbol: ACAA1;MYD88
ACAA1;MYD88
CUI: C2677092
Disease:
MYD88 Deficiency 		C 0.700 CausalMutation CLINVAR
dbSNP: rs4988453
rs4988453
Entrez Id: 30;4615
Gene Symbol: ACAA1;MYD88
ACAA1;MYD88
CUI: C0041327
Disease:
Tuberculosis, Pulmonary 		0.010 GeneticVariation BEFREE SNPs TLR9 rs352139, TLR2 rs3804099 and MYD88 rs4988453 were associated with PTB in females (OR = 0.49, p = 0.0009; OR = 0.51, p = 0.0008; OR = 0.33, p = 0.027; here and below log-additive model with minor alleles assumed as effect associated alleles), while SNP TLR8 rs3764880 showed a significant association in males (OR = 0.44, p = 0.0087). 30529560 2019
dbSNP: rs1162844242
rs1162844242
Entrez Id: 30;4615
Gene Symbol: ACAA1;MYD88
ACAA1;MYD88
CUI: C0020981
Disease:
Angioimmunoblastic Lymphadenopathy 		0.010 GeneticVariation BEFREE They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström macroglobulinemia, the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified, and the Y640F//D661Y/V/H/I//N647I STAT3 mutations in T-cell large granular lymphocytic leukemia. 24689848 2014
dbSNP: rs1162844242
rs1162844242
Entrez Id: 30;4615
Gene Symbol: ACAA1;MYD88
ACAA1;MYD88
CUI: C0079774
Disease:
Peripheral T-Cell Lymphoma 		0.010 GeneticVariation BEFREE They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström macroglobulinemia, the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified, and the Y640F//D661Y/V/H/I//N647I STAT3 mutations in T-cell large granular lymphocytic leukemia. 24689848 2014
dbSNP: rs4988453
rs4988453
Entrez Id: 30;4615
Gene Symbol: ACAA1;MYD88
ACAA1;MYD88
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum 		0.010 GeneticVariation BEFREE MYD88 rs4988453, a SNP that maps to a promoter region shared with the acetyl coenzyme-A acyl-transferase-1 (ACAA1), was associated with decreased survival of patients with colorectal cancer and altered transcriptional activity of the proximal genes. 24154872 2013
dbSNP: rs4988453
rs4988453
Entrez Id: 30;4615
Gene Symbol: ACAA1;MYD88
ACAA1;MYD88
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.010 GeneticVariation BEFREE MYD88 rs4988453, a SNP that maps to a promoter region shared with the acetyl coenzyme-A acyl-transferase-1 (ACAA1), was associated with decreased survival of patients with colorectal cancer and altered transcriptional activity of the proximal genes. 24154872 2013
dbSNP: rs4988453
rs4988453
Entrez Id: 30;4615
Gene Symbol: ACAA1;MYD88
ACAA1;MYD88
CUI: C0036202
Disease:
Sarcoidosis 		0.010 GeneticVariation BEFREE We analyzed a total of 93 cases with sarcoidosis and of 89 controls for the most common MyD88 SNPs: -938C>A (rs4988453) and 1944C>G (rs4988457). 23666053 2013