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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.400 None 1.000 23 2011 2020
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: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 19 2011 2019
Refractory anemia with ringed sideroblasts
disease Hemic and Lymphatic Diseases Neoplastic Process 36 3 0.500 None 1.000 19 2012 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.100 None 1.000 17 2011 2019
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
disease Neoplasms; Eye Diseases Neoplastic Process 376 22 0.600 None 0.929 14 2013 2019
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.100 None 1.000 13 2013 2020
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.090 None 1.000 9 2013 2019
Myelodysplastic-Myeloproliferative Diseases
group Hemic and Lymphatic Diseases Neoplastic Process 38 1 0.070 None 1.000 7 2011 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: C0836924
Disease: Thrombocytosis
Thrombocytosis
disease Hemic and Lymphatic Diseases Disease or Syndrome 93 12 0.160 None 1.000 6 2013 2019
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: C0344315
Disease: Depressed mood
Depressed mood
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.050 None 1.000 5 2017 2019
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: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.050 None 1.000 5 2017 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.050 None 1.000 5 2017 2019
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
disease Congenital Abnormality 181 4 0.150 None 1.000 5 2011 2014
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85 0.050 None 1.000 5 2013 2018
CUI: C0426980
Disease: Motor symptoms
Motor symptoms
phenotype Sign or Symptom 100 15 0.040 None 1.000 4 2017 2020
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 827 60 0.040 None 1.000 4 2014 2020
CUI: C0751772
Disease: REM Sleep Behavior Disorder
REM Sleep Behavior Disorder
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 46 16 0.040 None 1.000 4 2017 2019
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
disease Hemic and Lymphatic Diseases Neoplastic Process 282 29 0.040 None 1.000 4 2012 2018
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
group Hemic and Lymphatic Diseases Neoplastic Process 365 43 0.040 None 1.000 4 2014 2019
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: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
disease Neoplasms Neoplastic Process 1740 140 0.030 None 1.000 3 2012 2019