SF3B1, splicing factor 3b subunit 1, 23451

N. diseases: 200; N. variants: 11
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1301356
Disease: Refractory cytopenia with multilineage dysplasia and ringed sideroblasts
Refractory cytopenia with multilineage dysplasia and ringed sideroblasts 		disease Hemic and Lymphatic Diseases Neoplastic Process 1 0.020 None 1.000 2 2015 2016
CUI: C4023029
Disease: Abnormal number of granulocyte precursors
Abnormal number of granulocyte precursors 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4023030
Disease: Dysplastic granulopoesis
Dysplastic granulopoesis 		disease Disease or Syndrome 2 0.100 None 0
CUI: C1318550
Disease: Refractory anemia with excess blasts I
Refractory anemia with excess blasts I 		disease Hemic and Lymphatic Diseases Neoplastic Process 3 0.020 None 1.000 2 2012 2012
CUI: C1334688
Disease: Megaloblastic erythroid hyperplasia
Megaloblastic erythroid hyperplasia 		phenotype Finding 3 0.100 None 0
CUI: C4023351
Disease: Hyposegmentation of neutrophil nuclei
Hyposegmentation of neutrophil nuclei 		phenotype Cell or Molecular Dysfunction 4 1 0.100 None 0
CUI: C0751246
Disease: Illusions, Visual
Illusions, Visual 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 5 0.010 None 1.000 1 2017 2017
CUI: C2036842
Disease: Inferior lens subluxation
Inferior lens subluxation 		disease Eye Diseases Disease or Syndrome 5 0.100 None 0
CUI: C4280760
Disease: Abnormal visual accommodation
Abnormal visual accommodation 		phenotype Pathologic Function 5 0.100 None 0
CUI: C2826330
Disease: Refractory anemia with ring sideroblasts associated with marked thrombocytosis
Refractory anemia with ring sideroblasts associated with marked thrombocytosis 		disease Hemic and Lymphatic Diseases Neoplastic Process 6 1 0.040 None 1.000 4 2013 2019
CUI: C0346379
Disease: Malignant melanoma of ciliary body
Malignant melanoma of ciliary body 		disease Neoplasms; Eye Diseases Neoplastic Process 6 0.100 None 0
CUI: C1705500
Disease: Flasher - visual manifestation
Flasher - visual manifestation 		phenotype Sign or Symptom 6 0.100 None 0
CUI: C0231779
Disease: Heel toe gait
Heel toe gait 		phenotype Sign or Symptom 7 0.010 None 1.000 1 2019 2019
CUI: C0334447
Disease: Malignant blue nevus of skin
Malignant blue nevus of skin 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 7 1 0.010 None 1.000 1 2017 2017
CUI: C4025187
Disease: Increased megakaryocyte count
Increased megakaryocyte count 		phenotype Finding 7 0.100 None 0
CUI: C0406191
Disease: Pseudofolliculitis
Pseudofolliculitis 		disease Disease or Syndrome 8 1 0.010 None 1.000 1 2019 2019
CUI: C0221018
Disease: Hereditary sideroblastic anemia
Hereditary sideroblastic anemia 		disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 9 1 0.010 None 1.000 1 2017 2017
CUI: C0235983
Disease: Normochromic anemia
Normochromic anemia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 9 0.100 None 0
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris 		disease Neoplasms; Eye Diseases Neoplastic Process 10 1 0.410 None 1.000 3 2013 2018
CUI: C0151827
Disease: Eye pain
Eye pain 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 10 0.100 None 0
CUI: C0795845
Disease: Chromosome 12, 12p trisomy
Chromosome 12, 12p trisomy 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 11 0.010 None 1.000 1 2014 2014
CUI: C4531138
Disease: Short telomere length
Short telomere length 		phenotype Anatomical Abnormality 12 1 0.010 None 1.000 1 2013 2013
CUI: C0042909
Disease: Vitreous Hemorrhage
Vitreous Hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function 12 0.100 None 0
CUI: C0085577
Disease: Normocytic anemia
Normocytic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 12 0.100 None 0
CUI: C0392678
Disease: Swallowing problem
Swallowing problem 		phenotype Digestive System Diseases Sign or Symptom 13 1 0.010 None 1.000 1 2019 2019