ITGB3, integrin subunit beta 3, 3690

N. diseases: 260; N. variants: 44
Disease: Glanzmann Thrombasthenia, Type A ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3179396
Disease: Glanzmann Thrombasthenia, Type A
Glanzmann Thrombasthenia, Type A 		0.300 Biomarker disease CTD_human A spontaneous mutation of integrin alpha IIb beta 3 (platelet glycoprotein IIb-IIIa) helps define a ligand binding site. 1371279 1992
CUI: C3179396
Disease: Glanzmann Thrombasthenia, Type A
Glanzmann Thrombasthenia, Type A 		0.300 Biomarker disease CTD_human A new variant of Glanzmann's thrombasthenia (Strasbourg I). Platelets with functionally defective glycoprotein IIb-IIIa complexes and a glycoprotein IIIa 214Arg----214Trp mutation. 1602006 1992