F2R, coagulation factor II thrombin receptor, 2149

N. diseases: 347; N. variants: 10
Disease: Refractory anemias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		0.020 GeneticVariation disease BEFREE The human thrombin receptor gene has been localized to band q13 of chromosome 5, a site that is at or contiguous to the common proximal breakpoint found in the majority of patients with interstitial deletions involving 5q (5q- syndrome; refractory anemia with dysmegakaryocytopoiesis). 9373191 1997
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		0.020 GeneticVariation disease BEFREE The human thrombin receptor (TR) gene has previously been localized to band q13 of chromosome 5, a site that is at or contiguous with the common proximal breakpoint site identified in the majority of patients with the 5q- syndrome (dysmegakaryocytopoiesis and refractory anaemia). 8602997 1996