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: C0334070
Disease: Maturation defect
Maturation defect
phenotype Acquired Abnormality 43 2 0.010 None 1.000 1 1 2016 2016
CUI: C4531138
Disease: Short telomere length
Short telomere length
phenotype Anatomical Abnormality 12 1 0.010 None 1.000 1 2013 2013
Abnormal number of granulocyte precursors
phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4025843
Disease: Abnormality of refraction
Abnormality of refraction
disease Anatomical Abnormality 28 31 0.100 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
phenotype Cell or Molecular Dysfunction 151 0.100 None 0
Hyposegmentation of neutrophil nuclei
phenotype Cell or Molecular Dysfunction 4 1 0.100 None 0
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.050 None 1.000 5 2013 2019
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
disease Congenital Abnormality 181 4 0.150 None 1.000 5 2011 2014
CUI: C0026499
Disease: Monosomy
Monosomy
group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.020 None 1.000 2 2013 2019
CUI: C0266537
Disease: Congenital lamellar cataract
Congenital lamellar cataract
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 18 6 0.100 None 0
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.100 None 0.957 23 2017 2020
CUI: C0002893
Disease: Refractory anemias
Refractory anemias
disease Hemic and Lymphatic Diseases Disease or Syndrome 340 11 0.060 None 1.000 6 2012 2019
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 182 9 0.060 None 1.000 6 1 2015 2019
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
disease Hemic and Lymphatic Diseases Disease or Syndrome 93 12 0.160 None 1.000 6 2013 2019
Refractory anemia, without ringed sideroblasts, without excess blasts
disease Hemic and Lymphatic Diseases Disease or Syndrome 38 2 0.060 None 1.000 6 2012 2019
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.040 None 1.000 4 1 2015 2019
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE
disease Disease or Syndrome 33 59 0.030 None 0.667 3 2012 2019
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic
disease Hemic and Lymphatic Diseases Disease or Syndrome 51 2 0.020 None 1.000 2 1 2014 2016
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 316 42 0.020 None 1.000 2 2017 2019
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
disease Hemic and Lymphatic Diseases Disease or Syndrome 220 37 0.020 None 0.500 2 2016 2019
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 373 95 0.020 None 1.000 2 2017 2019
CUI: C0282193
Disease: Iron Overload
Iron Overload
disease Nutritional and Metabolic Diseases Disease or Syndrome 241 53 0.020 None 1.000 2 2015 2016
CUI: C0432408
Disease: Trisomy 12
Trisomy 12
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 76 0.020 None 1.000 2 2019 2019
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
disease Disease or Syndrome 247 76 0.020 None 1.000 2 2018 2019
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42 0.020 None 1.000 2 2019 2020