Gene: TUBB1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 81027
Gene Symbol: TUBB1
TUBB1 		0.030 GeneticVariation phenotype BEFREE TUBB1 dysfunction in inherited thrombocytopenia causes genome instability. 30854628 2019
Entrez Id: 81027
Gene Symbol: TUBB1
TUBB1 		0.030 GeneticVariation phenotype BEFREE Mean platelet volume was measured in thrombocytopenia with different genetic aetiologies, bilallelic BSS (bBSS) (n = 1), monoallelic BSS (mBSS) (n = 2), MYH9-related disorders (MYH9-RD) (n = 11), GFI1B-related thrombocytopenia (RT) (n = 15), FLI1-RT (n = 2), TUBB1-RT (n = 3), ITGA2B/ITGB3-RT (n = 1), RUNX1-RT (n = 2) and controls (n = 54). bBSS and 82% of MYH9-RD samples had MPD >4 μm which correlated with "IT with giant platelets." 29143464 2018
Entrez Id: 81027
Gene Symbol: TUBB1
TUBB1 		0.030 GeneticVariation phenotype BEFREE In the last 5 years, nine new genes whose mutations are responsible for thrombocytopenia have been identified, and this also led to the recognition of several novel nosographic entities, such as thrombocytopenias deriving from mutations in CYCS, TUBB1, FLNA, ITGA2B/ITGB3, ANKRD26 and ACTN1. 23636669 2013