SETBP1, SET binding protein 1, 26040

N. diseases: 257; N. variants: 28
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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.590 None 1.000 11 1 2010 2018
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 5 8 0.770 strong 0.909 11 8 2010 2018
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 11 1 2008 2017
CUI: C1292772
Disease: Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 32 5 0.590 None 1.000 9 1 2013 2020
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 158 28 0.080 None 1.000 8 2013 2019
CUI: C0023481
Disease: Chronic Neutrophilic Leukemia
Chronic Neutrophilic Leukemia 		disease Hemic and Lymphatic Diseases Neoplastic Process 16 4 0.080 None 1.000 8 2013 2018
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 179 70 0.550 None 1.000 6 1 2013 2017
CUI: C0600327
Disease: Toxic Shock Syndrome
Toxic Shock Syndrome 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 61 0.060 None 1.000 6 1995 2019
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 751 232 0.050 None 1.000 5 1999 2019
CUI: C0013595
Disease: Eczema
Eczema 		disease Skin and Connective Tissue Diseases Disease or Syndrome 863 368 0.050 None 1.000 5 1999 2019
CUI: C3714602
Disease: Staphylococcal toxic shock syndrome
Staphylococcal toxic shock syndrome 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 28 0.050 None 1.000 5 1995 2018
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		disease Disease or Syndrome 1 8 0.400 None 1.000 5 8 2010 2017
CUI: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 2111 144 0.030 None 1.000 3 2017 2018
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		disease Hemic and Lymphatic Diseases Neoplastic Process 282 29 0.020 None 1.000 2 2012 2018
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 160 3 0.300 None 1.000 2 2010 2014
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 1740 865 0.020 None 1.000 2 2016 2018
CUI: C0241210
Disease: Speech Delay
Speech Delay 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 58 11 0.310 None 0.500 2 2011 2014
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.020 None 1.000 2 2011 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.400 None 1.000 2 2 2015 2017
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 148 0.300 None 1.000 2 2010 2014
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		disease Neoplasms Neoplastic Process 1740 140 0.020 None 1.000 2 2017 2017
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome 		disease Hemic and Lymphatic Diseases Neoplastic Process 335 20 0.020 None 1.000 2 2014 2018
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome 		disease Hemic and Lymphatic Diseases Neoplastic Process 332 20 0.020 None 1.000 2 2014 2018
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris 		disease Skin and Connective Tissue Diseases Disease or Syndrome 94 37 0.010 None 1.000 1 2019 2019
CUI: C0002170
Disease: Alopecia
Alopecia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.100 None 1.000 1 1 2017 2017