SEPTIN9, septin 9, 10801

N. diseases: 150; N. variants: 26
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: C0007862
Disease: Cervico-Brachial Neuralgia
Cervico-Brachial Neuralgia 		disease Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2007 2007
CUI: C0085920
Disease: Brachial Neuralgia
Brachial Neuralgia 		disease Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2007 2007
CUI: C1510479
Disease: Neuralgic Amyotrophy
Neuralgic Amyotrophy 		disease Nervous System Diseases Disease or Syndrome 2 0.610 strong 1.000 3 2007 2017
CUI: C0014571
Disease: Epiphyses, Slipped
Epiphyses, Slipped 		disease Musculoskeletal Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 1 2008 2008
CUI: C0700251
Disease: Brachial Plexus Neuropathies
Brachial Plexus Neuropathies 		group Nervous System Diseases Disease or Syndrome 2 0.100 None 0
CUI: C0221759
Disease: Brachial Plexus Neuritis
Brachial Plexus Neuritis 		disease Nervous System Diseases Disease or Syndrome 3 0.510 None 1.000 2 2007 2017
CUI: C1112275
Disease: Diabetic gastroenteropathy
Diabetic gastroenteropathy 		disease Disease or Syndrome 4 0.010 None 1.000 1 2020 2020
CUI: C1834304
Disease: AMYOTROPHY, HEREDITARY NEURALGIC
AMYOTROPHY, HEREDITARY NEURALGIC 		disease Nervous System Diseases Disease or Syndrome 9 8 0.800 None 0.938 16 6 2005 2019
CUI: C4025830
Disease: Peripheral axonal degeneration
Peripheral axonal degeneration 		phenotype Finding 9 0.100 None 0
CUI: C0334292
Disease: Tubular adenoma
Tubular adenoma 		disease Neoplasms Neoplastic Process 17 0.010 None 1.000 1 2017 2017
CUI: C1318312
Disease: Serum iron measurement
Serum iron measurement 		phenotype Laboratory Procedure 17 25 0.100 None 1.000 1 1 2017 2017
CUI: C1837496
Disease: Axonal degeneration
Axonal degeneration 		phenotype Finding 17 0.100 None 0
CUI: C0206674
Disease: Adenoma, Villous
Adenoma, Villous 		disease Neoplasms Neoplastic Process 20 2 0.010 None 1.000 1 2017 2017
CUI: C0334307
Disease: Tubulovillous adenoma
Tubulovillous adenoma 		disease Neoplasms Neoplastic Process 20 0.010 None 1.000 1 2017 2017
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 25 5 0.100 None 0
CUI: C1277709
Disease: Transferrin saturation measurement
Transferrin saturation measurement 		phenotype Laboratory Procedure 26 36 0.100 None 1.000 1 1 2017 2017
CUI: C0280451
Disease: de novo myelodysplastic syndromes
de novo myelodysplastic syndromes 		disease Hemic and Lymphatic Diseases Neoplastic Process 27 4 0.010 None 1.000 1 2007 2007
CUI: C0279627
Disease: Adult Acute Myelomonocytic Leukemia
Adult Acute Myelomonocytic Leukemia 		disease Neoplasms Neoplastic Process 28 3 0.010 None 1.000 1 2002 2002
CUI: C0279644
Disease: Childhood Acute Myelomonocytic Leukemia
Childhood Acute Myelomonocytic Leukemia 		disease Neoplasms Neoplastic Process 28 3 0.010 None 1.000 1 2002 2002
CUI: C0152438
Disease: Sprengel deformity
Sprengel deformity 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 29 4 0.100 None 0
CUI: C2825306
Disease: Treatment related leukaemia
Treatment related leukaemia 		disease Neoplasms Neoplastic Process 30 0.010 None 1.000 1 1999 1999
CUI: C0206525
Disease: Tuberculosis, Drug-Resistant
Tuberculosis, Drug-Resistant 		disease Infections Disease or Syndrome 37 0.010 None 1.000 1 2019 2019
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 2015 2015
CUI: C0042928
Disease: Vocal Cord Paralysis
Vocal Cord Paralysis 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 42 3 0.010 None 1.000 1 2013 2013
CUI: C0021846
Disease: Intestinal Polyps
Intestinal Polyps 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 48 1 0.010 None 1.000 1 2019 2019