|
Blood Platelet Disorders
|
0.310 |
GeneticVariation
|
group |
BEFREE |
Recently, the platelet disorder congenital autosomal-recessive small-platelet thrombocytopenia (CARST) was described; it is caused by mutations in the adhesion and degranulation-promoting adaptor protein (<i>ADAP</i>; synonym: <i>FYB</i>, <i>SLAP130/120</i>) gene, and characterized by microthrombocytopenia and bleeding symptoms.
|
29950291 |
2018 |
|
Thrombocytopenia
|
0.130 |
GeneticVariation
|
phenotype |
BEFREE |
Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopenia.
|
25876182 |
2015 |
|
Thrombocytopenia
|
0.130 |
GeneticVariation
|
phenotype |
BEFREE |
This is the first report linking pathogenic variants in FYB and thrombocytopenia in humans.
|
25516138 |
2014 |
|
Red Blood Cell Count measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Unipolar Depression
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Analysis of 23andMe antidepressant efficacy survey data: implication of circadian rhythm and neuroplasticity in bupropion response.
|
27622933 |
2016 |
|
Mood Disorders
|
0.100 |
GeneticVariation
|
group |
GWASCAT |
Analysis of 23andMe antidepressant efficacy survey data: implication of circadian rhythm and neuroplasticity in bupropion response.
|
27622933 |
2016 |
|
Finding of Mean Corpuscular Hemoglobin
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Major Depressive Disorder
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Analysis of 23andMe antidepressant efficacy survey data: implication of circadian rhythm and neuroplasticity in bupropion response.
|
27622933 |
2016 |
|
Malaria
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
The obtained data suggest that individuals with the FYA/FYB genotype have higher susceptibility to malaria.
|
18093292 |
2007 |
|
Malaria
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
This data provide evidence that individuals with the FYA/FYB genotype have higher susceptibility to malaria and there are significant associations between Duffy blood group variants and susceptibility or resistance to vivax malaria.
|
24507640 |
2014 |
|
Malaria
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
FYB carriage (deduced from DARC G125A) was not associated with the risk of malaria per se but it protected against severe falciparum malaria (P = 0.03), and hospitalization (P = 0.006) due to falciparum malaria.
|
31551092 |
2019 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to perform an association study between seven Fyn-binding protein gene (FYB)-tag single nucleotide polymorphisms (SNPs) and type I diabetes mellitus (T1DM), as well as with disease age of onset.
|
25729932 |
2015 |
|
Hepatitis B
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
However, the emergence of antiviral drug-associated potential vaccine escape mutants (ADAP-VEMs) in treated patients does not necessarily pose a significant, imminent threat to the global hepatitis B immunization programme.
|
20428355 |
2010 |
|
Leukoencephalopathy, Progressive Multifocal
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
By applying subtraction cloning to acute promyelocytic leukemia cells, we identified a retinoic acid-induced gene, PRAM-1 (PML-RARalpha target gene encoding an Adaptor Molecule-1), which encodes a novel adaptor protein sharing structural homologies with the SLAP-130/fyb adaptor.
|
11301322 |
2001 |
|
Malaria, Falciparum
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
FYB carriage (deduced from DARC G125A) was not associated with the risk of malaria per se but it protected against severe falciparum malaria (P = 0.03), and hospitalization (P = 0.006) due to falciparum malaria.
|
31551092 |
2019 |
|
Malaria, Vivax
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
This data provide evidence that individuals with the FYA/FYB genotype have higher susceptibility to malaria and there are significant associations between Duffy blood group variants and susceptibility or resistance to vivax malaria.
|
24507640 |
2014 |
|
Virus Diseases
|
0.010 |
GeneticVariation
|
group |
BEFREE |
It is critical to further explore whether the SNP polymorphisms located in human ADAP gene are associated with disease susceptibility in response to influenza virus infection.
|
25909459 |
2015 |
|
Tumor Cell Invasion
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Individuals with the Duffy-negative phenotype are resistant to P. vivax invasion, and the molecular mechanism that gives rise to the phenotype Fy(a - b - ) in black individuals has been associated with a point mutation - 33TC expressed in homozigosity in the FYB allele [5].
|
17607593 |
2006 |
|
Thrombocytopenia 3
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopenia.
|
25876182 |
2015 |
|
Thrombocytopenia 3
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Blood Platelet Disorders
|
0.310 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopenia.
|
25876182 |
2015 |
|
Dermatitis, Allergic Contact
|
0.300 |
Biomarker
|
disease |
CTD_human |
Gene transcripts as potential diagnostic markers for allergic contact dermatitis.
|
16033404 |
2005 |
|
Thrombocytopenia
|
0.130 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Thrombocytopenia
|
0.130 |
Biomarker
|
phenotype |
BEFREE |
The analysis showed equivalent results as for conventional ADAP knockout mice: impaired thymocyte development in ADAP<sup>fl/fl</sup> Lck-Cre mice, normal NK cell and myeloid cell distribution in ADAP<sup>fl/fl</sup> NKp46-Cre mice and ADAP<sup>fl/fl</sup> LysM-Cre mice, respectively as well as thrombocytopenia in ADAP<sup>fl/fl</sup> PF4-Cre mice.
|
31632410 |
2019 |
|
Epistaxis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|