SBF2, SET binding factor 2, 81846

N. diseases: 77; N. variants: 78
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: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
group Nervous System Diseases Disease or Syndrome 549 69 0.030 None 1.000 3 2003 2016
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy
group Nervous System Diseases Disease or Syndrome 351 81 0.020 None 1.000 2 2003 2016
CUI: C3711383
Disease: Early-Onset Glaucoma
Early-Onset Glaucoma
disease Eye Diseases Disease or Syndrome 15 1 0.010 None 1.000 1 2003 2003
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 95 14 0.020 None 1.000 2 2004 2019
Charcot-Marie-Tooth disease, Type 4B1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 5 0.020 None 1.000 2 2005 2013
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease Nervous System Diseases Disease or Syndrome 104 4 0.010 None 1.000 1 2006 2006
Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 3 0.310 None 1.000 3 3 2007 2014
Hereditary Motor and Sensory Neuropathies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 53 11 0.200 None 1.000 2 2007 2008
Hereditary motor and sensory neuropathy, types I-IV
disease Disease or Syndrome 21 0.200 None 1.000 2 2007 2008
Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.200 None 1.000 2 2007 2008
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
disease Disease or Syndrome 21 0.200 None 1.000 2 2007 2008
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 176 45 0.200 None 1.000 2 2007 2008
Peroneal muscular atrophy (axonal type) (hypertrophic type)
disease Disease or Syndrome 21 0.200 None 1.000 2 2007 2008
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 26 5 0.200 None 1.000 2 2007 2008
Corpuscular Hemoglobin Concentration Mean
phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 1 39 2012 2012
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.010 None 1.000 1 2013 2013
Hypopigmentation-immunodeficiency disease
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 14 3 0.010 None 1.000 1 2013 2013
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.110 None 1.000 3 2 2014 2017
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.110 None 1.000 2 3 2014 2016
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 518 138 0.010 None 1.000 1 2014 2014
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
group Nervous System Diseases Disease or Syndrome 171 50 0.010 None 1.000 1 2014 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.110 None 1.000 2 1 2015 2019
Charcot-Marie-Tooth Disease, Type Ib
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 12 51 0.010 None 1.000 1 2015 2015
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 2 2 2016 2019
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
phenotype Laboratory Procedure 138 216 0.100 None 1.000 1 2 2016 2016