Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861194
Disease: Thrombasthenia-Thrombocytopenia, Hereditary
Thrombasthenia-Thrombocytopenia, Hereditary 		0.710 Biomarker disease CLINGEN Gfi1b regulates the level of Wnt/β-catenin signaling in hematopoietic stem cells and megakaryocytes. 30894540 2019
CUI: C1861194
Disease: Thrombasthenia-Thrombocytopenia, Hereditary
Thrombasthenia-Thrombocytopenia, Hereditary 		0.710 Biomarker disease CLINGEN Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder. 31249973 2018
CUI: C1861194
Disease: Thrombasthenia-Thrombocytopenia, Hereditary
Thrombasthenia-Thrombocytopenia, Hereditary 		0.710 Biomarker disease CLINGEN A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia. 28439885 2018
CUI: C1861194
Disease: Thrombasthenia-Thrombocytopenia, Hereditary
Thrombasthenia-Thrombocytopenia, Hereditary 		0.710 Biomarker disease BEFREE The generated iPSCs can be used to study BDPLT17 pathophysiology and basic functions of GFI1B. 29055225 2017
CUI: C1861194
Disease: Thrombasthenia-Thrombocytopenia, Hereditary
Thrombasthenia-Thrombocytopenia, Hereditary 		0.710 Biomarker disease GENOMICS_ENGLAND Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B. 28041820 2017
CUI: C1861194
Disease: Thrombasthenia-Thrombocytopenia, Hereditary
Thrombasthenia-Thrombocytopenia, Hereditary 		0.710 Biomarker disease CLINGEN Thrombocytopenia and CD34 expression is decoupled from α-granule deficiency with mutation of the first growth factor-independent 1B zinc finger. 28880435 2017
CUI: C1861194
Disease: Thrombasthenia-Thrombocytopenia, Hereditary
Thrombasthenia-Thrombocytopenia, Hereditary 		0.710 Biomarker disease CLINGEN Gfi1b controls integrin signaling-dependent cytoskeleton dynamics and organization in megakaryocytes. 28082345 2017
CUI: C1861194
Disease: Thrombasthenia-Thrombocytopenia, Hereditary
Thrombasthenia-Thrombocytopenia, Hereditary 		0.710 Biomarker disease CLINGEN Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37. 28550182 2017
CUI: C1861194
Disease: Thrombasthenia-Thrombocytopenia, Hereditary
Thrombasthenia-Thrombocytopenia, Hereditary 		0.710 Biomarker disease CLINGEN Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B. 28041820 2017
CUI: C1861194
Disease: Thrombasthenia-Thrombocytopenia, Hereditary
Thrombasthenia-Thrombocytopenia, Hereditary 		0.710 Biomarker disease CLINGEN Functional characterization of a novel GFI1B mutation causing congenital macrothrombocytopenia. 27122003 2016
CUI: C1861194
Disease: Thrombasthenia-Thrombocytopenia, Hereditary
Thrombasthenia-Thrombocytopenia, Hereditary 		0.710 Biomarker disease CLINGEN Transcriptional diversity during lineage commitment of human blood progenitors. 25258084 2014
CUI: C1861194
Disease: Thrombasthenia-Thrombocytopenia, Hereditary
Thrombasthenia-Thrombocytopenia, Hereditary 		0.710 Biomarker disease CLINGEN A dominant-negative GFI1B mutation in the gray platelet syndrome. 24325358 2014
CUI: C1861194
Disease: Thrombasthenia-Thrombocytopenia, Hereditary
Thrombasthenia-Thrombocytopenia, Hereditary 		0.710 Biomarker disease GENOMICS_ENGLAND GFI1B mutation causes a bleeding disorder with abnormal platelet function. 23927492 2013
CUI: C1861194
Disease: Thrombasthenia-Thrombocytopenia, Hereditary
Thrombasthenia-Thrombocytopenia, Hereditary 		0.710 Biomarker disease CLINGEN GFI1B mutation causes a bleeding disorder with abnormal platelet function. 23927492 2013
CUI: C1861194
Disease: Thrombasthenia-Thrombocytopenia, Hereditary
Thrombasthenia-Thrombocytopenia, Hereditary 		0.710 Biomarker disease CLINGEN The zinc-finger proto-oncogene Gfi-1b is essential for development of the erythroid and megakaryocytic lineages. 11825872 2002
CUI: C1861194
Disease: Thrombasthenia-Thrombocytopenia, Hereditary
Thrombasthenia-Thrombocytopenia, Hereditary 		0.710 Biomarker disease CTD_human
CUI: C1861194
Disease: Thrombasthenia-Thrombocytopenia, Hereditary
Thrombasthenia-Thrombocytopenia, Hereditary 		0.710 CausalMutation disease CLINVAR
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.410 GeneticVariation disease BEFREE We describe two patients from unrelated families with combined alpha-delta storage pool deficiency due to mutations in GFI1B, a zinc finger protein known to act as a transcriptional repressor of various genes. 28041820 2017
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.410 GermlineCausalMutation disease ORPHANET We describe two patients from unrelated families with combined alpha-delta storage pool deficiency due to mutations in GFI1B, a zinc finger protein known to act as a transcriptional repressor of various genes. 28041820 2017
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.410 CausalMutation disease CLINVAR
CUI: C0272302
Disease: Gray Platelet Syndrome
Gray Platelet Syndrome 		0.310 Biomarker disease BEFREE Our studies show that GFI1B, in addition to being causally related to the gray platelet syndrome, is key to megakaryocyte and platelet development. 24325358 2014
CUI: C0272302
Disease: Gray Platelet Syndrome
Gray Platelet Syndrome 		0.310 GermlineCausalMutation disease ORPHANET Our studies show that GFI1B, in addition to being causally related to the gray platelet syndrome, is key to megakaryocyte and platelet development. 24325358 2014
CUI: C4304021
Disease: Autosomal dominant macrothrombocytopenia
Autosomal dominant macrothrombocytopenia 		0.300 GermlineCausalMutation disease ORPHANET A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia. 28439885 2018
CUI: C2717750
Disease: Platelet alpha-Granule Deficiency
Platelet alpha-Granule Deficiency 		0.300 GermlineCausalMutation disease ORPHANET A dominant-negative GFI1B mutation in the gray platelet syndrome. 24325358 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 GeneticVariation disease UNIPROT