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: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.800 limited 0.971 70 1 2011 2020
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1447 291 0.500 None 0.974 38 5 2011 2019
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
Refractory anemia with ringed sideroblasts
disease Hemic and Lymphatic Diseases Neoplastic Process 36 3 0.500 None 1.000 19 2012 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 19 2011 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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.500 None 1.000 14 6 2000 2020
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: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome
disease Hemic and Lymphatic Diseases Neoplastic Process 335 20 0.100 None 1.000 11 1 2013 2019
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
disease Hemic and Lymphatic Diseases Neoplastic Process 332 20 0.100 None 1.000 11 1 2013 2019
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
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
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: 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: 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: 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: 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: 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.050 None 1.000 5 1 2015 2018