FYB1, FYN binding protein 1, 2533

N. diseases: 30; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2678311
Disease: Thrombocytopenia 3
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
CUI: C2678311
Disease: Thrombocytopenia 3
Thrombocytopenia 3 		0.600 Biomarker disease CTD_human
CUI: C2678311
Disease: Thrombocytopenia 3
Thrombocytopenia 3 		0.600 CausalMutation disease CLINVAR
CUI: C0005818
Disease: Blood Platelet Disorders
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
CUI: C0005818
Disease: Blood Platelet Disorders
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
CUI: C0162820
Disease: Dermatitis, Allergic Contact
Dermatitis, Allergic Contact 		0.300 Biomarker disease CTD_human Gene transcripts as potential diagnostic markers for allergic contact dermatitis. 16033404 2005
CUI: C0040034
Disease: Thrombocytopenia
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
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.130 GeneticVariation phenotype BEFREE Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopenia. 25876182 2015
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.130 GeneticVariation phenotype BEFREE This is the first report linking pathogenic variants in FYB and thrombocytopenia in humans. 25516138 2014
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.130 Biomarker phenotype HPO
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0041696
Disease: Unipolar Depression
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
CUI: C0525045
Disease: Mood Disorders
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
CUI: C1269683
Disease: Major Depressive Disorder
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
CUI: C0014591
Disease: Epistaxis
Epistaxis 		0.100 Biomarker phenotype HPO
CUI: C1096368
Disease: Decreased mean platelet volume
Decreased mean platelet volume 		0.100 Biomarker phenotype HPO
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		0.100 Biomarker phenotype HPO
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.100 Biomarker disease HPO
CUI: C0024530
Disease: Malaria
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
CUI: C0024530
Disease: Malaria
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
CUI: C0024530
Disease: Malaria
Malaria 		0.030 GeneticVariation disease BEFREE The obtained data suggest that individuals with the FYA/FYB genotype have higher susceptibility to malaria. 18093292 2007
CUI: C0014070
Disease: Encephalomyelitis
Encephalomyelitis 		0.020 Biomarker disease BEFREE To dissect the impact of different ADAP expressing cell populations on the reduced EAE severity, here, we generated lineage-specific conditional knockout mice. 31632410 2019
CUI: C0014070
Disease: Encephalomyelitis
Encephalomyelitis 		0.020 Biomarker disease BEFREE The adhesion- and degranulation-promoting adaptor protein and its role in the modulation of experimental autoimmune encephalomyelitis. 25746044 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 AlteredExpression disease BEFREE Importantly, the overexpression of FYB was correlated with breast cancer metastasis. 30712460 2020