SET, SET nuclear proto-oncogene, 6418

N. diseases: 183; N. variants: 5
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: C4748195
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58
MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 		disease Disease or Syndrome 1 5 0.600 strong 1.000 3 5 2014 2018
CUI: C0239272
Disease: Elbow stiff
Elbow stiff 		phenotype Sign or Symptom 3 0.010 None 1.000 1 2017 2017
CUI: C1717804
Disease: Emphysema or COPD
Emphysema or COPD 		disease Disease or Syndrome 3 0.010 None 1.000 1 2012 2012
CUI: C1518736
Disease: Ovarian Small Cell Carcinoma, Hypercalcemic Type
Ovarian Small Cell Carcinoma, Hypercalcemic Type 		disease Neoplastic Process 9 0.010 None 1.000 1 2017 2017
CUI: C4288892
Disease: Infant Acute Undifferentiated Leukemia
Infant Acute Undifferentiated Leukemia 		disease Neoplastic Process 14 0.100 None 1.000 10 1992 2010
CUI: C0085423
Disease: Gram-Negative Bacterial Infections
Gram-Negative Bacterial Infections 		group Infections Disease or Syndrome 24 3 0.010 None 1.000 1 2019 2019
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 25 0.010 None 1.000 1 2008 2008
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma 		disease Neoplasms Neoplastic Process 30 0.010 None 1.000 1 2014 2014
CUI: C0279985
Disease: Childhood Alveolar Soft Part Sarcoma
Childhood Alveolar Soft Part Sarcoma 		disease Neoplasms Neoplastic Process 30 0.010 None 1.000 1 2014 2014
CUI: C0031572
Disease: Phobia, Social
Phobia, Social 		disease Mental Disorders Mental or Behavioral Dysfunction 33 8 0.010 None 1.000 1 2017 2017
CUI: C1956097
Disease: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 34 2 0.020 None 1.000 2 1998 2001
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Congenital Abnormality 37 253 0.010 None 1.000 1 2019 2019
CUI: C0333693
Disease: Triploidy syndrome
Triploidy syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 42 0.010 None 1.000 1 1976 1976
CUI: C0221228
Disease: Comedone
Comedone 		disease Skin and Connective Tissue Diseases Disease or Syndrome 53 0.010 None 1.000 1 2012 2012
CUI: C3714534
Disease: dowling-degos disease
dowling-degos disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 53 7 0.010 None 1.000 1 2018 2018
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 56 6 0.010 None 1.000 1 2017 2017
CUI: C0085159
Disease: Seasonal Affective Disorder
Seasonal Affective Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 57 17 0.010 None 1.000 1 2017 2017
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 4 0.100 None 0
CUI: C0027540
Disease: Necrosis
Necrosis 		phenotype Pathological Conditions, Signs and Symptoms Organ or Tissue Function 60 0.300 None 1.000 1 2014 2014
CUI: C0206657
Disease: Alveolar Soft Part Sarcoma
Alveolar Soft Part Sarcoma 		disease Neoplasms Neoplastic Process 61 0.010 None 1.000 1 2014 2014
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 62 78 0.010 None 1.000 1 2020 2020
CUI: C0003175
Disease: Anthrax disease
Anthrax disease 		disease Infections Disease or Syndrome 66 3 0.010 None 1.000 1 2013 2013
CUI: C0279593
Disease: Adult B Acute Lymphoblastic Leukemia
Adult B Acute Lymphoblastic Leukemia 		disease Neoplastic Process 74 0.010 None 1.000 1 2012 2012
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 74 12 0.100 None 0
CUI: C4288891
Disease: Infant T Acute Lymphoblastic Leukemia
Infant T Acute Lymphoblastic Leukemia 		disease Neoplastic Process 75 1 0.010 None 1.000 1 2012 2012