Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894815
rs104894815
GATA1
CUI: C3550789
Disease: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA 		0.700 GeneticVariation UNIPROT Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation. 11809723

2002
dbSNP: rs104894815
rs104894815
GATA1
CUI: C3550789
Disease: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA 		0.700 GeneticVariation UNIPROT X-linked thrombocytopenia caused by a novel mutation of GATA-1. 11675338

2001
dbSNP: rs104894815
rs104894815
GATA1
CUI: C3550789
Disease: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA 		0.700 GeneticVariation UNIPROT Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. 11418466

2001
dbSNP: rs104894815
rs104894815
GATA1
CUI: C3550789
Disease: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA 		0.700 GeneticVariation UNIPROT Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. 10700180

2000
dbSNP: rs104894815
rs104894815
GATA1
CUI: C1839161
Disease: Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis 		A 0.700 CausalMutation CLINVAR Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. 10700180

2000
dbSNP: rs104894815
rs104894815
GATA1
CUI: C4016507
Disease: THROMBOCYTOPENIA, X-LINKED, WITH DYSERYTHROPOIETIC ANEMIA
THROMBOCYTOPENIA, X-LINKED, WITH DYSERYTHROPOIETIC ANEMIA 		A 0.700 CausalMutation CLINVAR

dbSNP: rs104894815
rs104894815
GATA1
CUI: C0002871
Disease: Anemia
Anemia 		0.020 GeneticVariation BEFREE Substitution mutations in GATA1-Nf, such as GATA1(V205M) that diminish the GATA1-FOG1 association, have been identified in human thrombocytopenia and anemia cases. 22279059

2012
dbSNP: rs104894815
rs104894815
GATA1
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.020 GeneticVariation BEFREE Substitution mutations in GATA1-Nf, such as GATA1(V205M) that diminish the GATA1-FOG1 association, have been identified in human thrombocytopenia and anemia cases. 22279059

2012
dbSNP: rs104894815
rs104894815
GATA1
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.020 GeneticVariation BEFREE Here we describe a family with X-linked dyserythropoietic anaemia and thrombocytopenia due to a substitution of methionine for valine at amino acid 205 of GATA-1. 10700180

2000
dbSNP: rs104894815
rs104894815
GATA1
CUI: C0002871
Disease: Anemia
Anemia 		0.020 GeneticVariation BEFREE Here we describe a family with X-linked dyserythropoietic anaemia and thrombocytopenia due to a substitution of methionine for valine at amino acid 205 of GATA-1. 10700180

2000
dbSNP: rs104894815
rs104894815
GATA1
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.010 GeneticVariation BEFREE Missense mutations in the N-terminal zinc finger (Nf) of GATA1 result in abnormal hematopoiesis, as documented in four families: the mutation V205M leads to both severe macrothrombocytopenia and dyserythropoietic anemia, D218G to macrothrombocytopenia and mild dyserythropoiesis without anemia, G208S to macrothrombocytopenia and R216Q to macrothrombocytopenia with beta-thalassemia. 11809723

2002
dbSNP: rs104894815
rs104894815
GATA1
CUI: C0678199
Disease: Anemia of inadequate production
Anemia of inadequate production 		0.010 GeneticVariation BEFREE Missense mutations in the N-terminal zinc finger (Nf) of GATA1 result in abnormal hematopoiesis, as documented in four families: the mutation V205M leads to both severe macrothrombocytopenia and dyserythropoietic anemia, D218G to macrothrombocytopenia and mild dyserythropoiesis without anemia, G208S to macrothrombocytopenia and R216Q to macrothrombocytopenia with beta-thalassemia. 11809723

2002
dbSNP: rs104894815
rs104894815
GATA1
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		0.010 GeneticVariation BEFREE Missense mutations in the N-terminal zinc finger (Nf) of GATA1 result in abnormal hematopoiesis, as documented in four families: the mutation V205M leads to both severe macrothrombocytopenia and dyserythropoietic anemia, D218G to macrothrombocytopenia and mild dyserythropoiesis without anemia, G208S to macrothrombocytopenia and R216Q to macrothrombocytopenia with beta-thalassemia. 11809723

2002
dbSNP: rs104894815
rs104894815
GATA1
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.010 GeneticVariation BEFREE Missense mutations in the N-terminal zinc finger (Nf) of GATA1 result in abnormal hematopoiesis, as documented in four families: the mutation V205M leads to both severe macrothrombocytopenia and dyserythropoietic anemia, D218G to macrothrombocytopenia and mild dyserythropoiesis without anemia, G208S to macrothrombocytopenia and R216Q to macrothrombocytopenia with beta-thalassemia. 11809723

2002