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: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease Musculoskeletal Diseases Acquired Abnormality 149 2 0.100 None 0
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 3 2018 2018
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 213 2 0.100 None 0
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		disease Musculoskeletal Diseases Anatomical Abnormality 155 17 0.100 None 0
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		phenotype Musculoskeletal Diseases Anatomical Abnormality 46 11 0.100 None 0
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 2 3 2017 2019
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		phenotype Clinical Attribute 507 1037 0.100 None 1.000 1 1 2017 2017
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 285 44 0.100 None 0
CUI: C0221373
Disease: Claw hand
Claw hand 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 63 3 0.100 None 0
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 151 2 0.100 None 0
CUI: C4025799
Disease: Ulnar claw
Ulnar claw 		disease Musculoskeletal Diseases Congenital Abnormality 9 0.100 None 0
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 1 2 2019 2019
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.300 None 1.000 14 2003 2019
CUI: C1858278
Disease: Charcot-Marie-Tooth disease, Type 4B2
Charcot-Marie-Tooth disease, Type 4B2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 0.740 None 1.000 8 2003 2019
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease Eye Diseases Disease or Syndrome 770 198 0.140 None 0.750 4 1 2003 2019
CUI: C1858279
Disease: Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma
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
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 14 77 0.100 None 1.000 3 8 2003 2014
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: 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
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
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
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: 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
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
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: C1408182
Disease: Hereditary motor and sensory neuropathy, types I-IV
Hereditary motor and sensory neuropathy, types I-IV 		disease Disease or Syndrome 21 0.200 None 1.000 2 2007 2008