ITGA2B, integrin subunit alpha 2b, 3674

N. diseases: 215; N. variants: 36
Disease: Glanzmann Thrombasthenia, Autosomal Dominant ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
Glanzmann Thrombasthenia, Autosomal Dominant 		0.900 Biomarker disease GENOMICS_ENGLAND Demonstration of novel gain-of-function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype. 24498605 2013
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
Glanzmann Thrombasthenia, Autosomal Dominant 		0.900 GeneticVariation disease UNIPROT Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia. 21454453 2011
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
Glanzmann Thrombasthenia, Autosomal Dominant 		0.900 Biomarker disease MGD Thrombasthenic mice generated by replacement of the integrin alpha(IIb) gene: demonstration that transcriptional activation of this megakaryocytic locus precedes lineage commitment. 10942384 2000
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
Glanzmann Thrombasthenia, Autosomal Dominant 		0.900 GeneticVariation disease UNIPROT R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann's thrombasthenia-like syndrome. 9834222 1998
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
Glanzmann Thrombasthenia, Autosomal Dominant 		0.900 Biomarker disease GENOMICS_ENGLAND R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann's thrombasthenia-like syndrome. 9834222 1998
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
Glanzmann Thrombasthenia, Autosomal Dominant 		0.900 CausalMutation disease CLINVAR
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
Glanzmann Thrombasthenia, Autosomal Dominant 		0.900 Biomarker disease CTD_human