SF3B1, splicing factor 3b subunit 1, 23451

N. diseases: 200; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.800 Biomarker group CTD_human
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.800 CausalMutation group CGI
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.800 Biomarker group HPO
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.800 Biomarker group GENOMICS_ENGLAND
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.500 CausalMutation disease CGI
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.500 Biomarker disease HPO
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		0.500 Biomarker disease HPO
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris 		0.410 Biomarker disease HPO
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.400 CausalMutation group CGI
CUI: C0346388
Disease: Malignant melanoma of choroid
Malignant melanoma of choroid 		0.400 Biomarker disease HPO
CUI: C2713368
Disease: Hematopoetic Myelodysplasia
Hematopoetic Myelodysplasia 		0.300 Biomarker phenotype CTD_human
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		0.160 Biomarker disease HPO
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		0.150 Biomarker disease HPO
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.110 Biomarker disease HPO
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.110 Biomarker disease HPO
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.110 Biomarker phenotype HPO
CUI: C0001824
Disease: Agranulocytosis
Agranulocytosis 		0.100 Biomarker disease HPO
CUI: C0002884
Disease: Hypochromic anemia
Hypochromic anemia 		0.100 Biomarker disease HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0023518
Disease: Leukocytosis
Leukocytosis 		0.100 Biomarker phenotype HPO
CUI: C0026961
Disease: Mydriasis
Mydriasis 		0.100 Biomarker phenotype HPO
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.100 Biomarker disease HPO
CUI: C0028840
Disease: Ocular Hypertension
Ocular Hypertension 		0.100 Biomarker disease HPO
CUI: C0030232
Disease: Pallor
Pallor 		0.100 Biomarker phenotype HPO
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		0.100 Biomarker disease HPO