Condition: Thrombocytopenia


rs863223318 in ANKRD26 gene and Thrombocytopenia PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs121918552 in CYCS gene and Thrombocytopenia PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs724159945 in ETV6 gene and Thrombocytopenia PMID 25581430 2015 Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.

rs104894816 in GATA1 gene and Thrombocytopenia PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs794727505 in GNE;CLTA gene and Thrombocytopenia PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs121908064 in GP1BA;CHRNE gene and Thrombocytopenia PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs5030764 in GP9 gene and Thrombocytopenia PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs1559810905 in IFIH1 gene and Thrombocytopenia PMID 30965144 2020 An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.

rs766503255 in ITGA2B gene and Thrombocytopenia PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs104894419 in LIG4 gene and Thrombocytopenia PMID 11779494 2001 DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.

PMID 24123394 2014 Extreme growth failure is a common presentation of ligase IV deficiency.

rs146249964 in MPL gene and Thrombocytopenia PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs1569008655 in RUNX1 gene and Thrombocytopenia PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs121909752 in SEPT5-GP1BB;GP1BB;SEPTIN5 gene and Thrombocytopenia PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs886043118 in STAT1 gene and Thrombocytopenia PMID 27117246 2018 A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature.

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs132630273 in WAS gene and Thrombocytopenia PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.