ATN1, atrophin 1, 1822

N. diseases: 499; N. variants: 6
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: C0747733
Disease: Polychondritis
Polychondritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1 0.010 None 1.000 1 2003 2003
CUI: C1333446
Disease: Esophageal Gastrointestinal Stromal Tumor
Esophageal Gastrointestinal Stromal Tumor 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2013 2013
CUI: C1378512
Disease: Blast cell leukemia
Blast cell leukemia 		disease Neoplastic Process 1 0.010 None 1.000 1 2010 2010
CUI: C4310772
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART 		disease Disease or Syndrome 2 11 0.010 None 1.000 1 2018 2018
CUI: C1857788
Disease: Atrophy of the dentate nucleus
Atrophy of the dentate nucleus 		phenotype Finding 2 0.100 None 0
CUI: C0426430
Disease: Drooping nasal tip
Drooping nasal tip 		phenotype Finding 3 1 0.100 None 0
CUI: C4331762
Disease: Wolff-Chaikoff Phenomenon
Wolff-Chaikoff Phenomenon 		disease Endocrine System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C0036093
Disease: Salivary Gland Diseases
Salivary Gland Diseases 		group Stomatognathic Diseases Disease or Syndrome 5 0.010 None 1.000 1 2002 2002
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 5 37 0.010 None 1.000 1 2003 2003
CUI: C1858501
Disease: Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 12 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 1 0.010 None 1.000 1 2015 2015
CUI: C3273225
Disease: Hereditary Neurodegenerative Disorder
Hereditary Neurodegenerative Disorder 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 0.020 None 1.000 2 2001 2009
CUI: C1332655
Disease: Complement component 3 deficiency
Complement component 3 deficiency 		disease Disease or Syndrome 6 1 0.010 None 1.000 1 2007 2007
CUI: C0162679
Disease: Leukemic Infiltration
Leukemic Infiltration 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 7 0.020 None 1.000 2 2006 2011
CUI: C0008439
Disease: Chondritis
Chondritis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 7 2 0.010 None 1.000 1 2003 2003
CUI: C0156372
Disease: Asherman Syndrome
Asherman Syndrome 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 7 0.010 None 1.000 1 2015 2015
CUI: C0155223
Disease: Dacryoadenitis
Dacryoadenitis 		disease Eye Diseases Disease or Syndrome 8 0.010 None 1.000 1 2009 2009
CUI: C4023190
Disease: Thyroid hemiagenesis
Thyroid hemiagenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2018 2018
CUI: C4273988
Disease: Benign adult familial myoclonic epilepsy
Benign adult familial myoclonic epilepsy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 9 0.010 None 1.000 1 1996 1996
CUI: C0032453
Disease: Polychondritis, Relapsing
Polychondritis, Relapsing 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 10 0.010 None 1.000 1 2003 2003
CUI: C3275124
Disease: Biliary System Disorder
Biliary System Disorder 		disease Disease or Syndrome 11 0.020 None 1.000 2 2006 2011
CUI: C0205858
Disease: General Paralysis
General Paralysis 		disease Infections; Nervous System Diseases Disease or Syndrome 12 3 0.010 None 1.000 1 2018 2018
CUI: C1960458
Disease: Differentiation syndrome due to and following chemotherapy co-occurrent with acute promyelocytic leukemia
Differentiation syndrome due to and following chemotherapy co-occurrent with acute promyelocytic leukemia 		disease Neoplasms Disease or Syndrome 12 0.010 None 1.000 1 2004 2004
CUI: C4075851
Disease: Autoimmune cholangitis
Autoimmune cholangitis 		disease Digestive System Diseases; Immune System Diseases Disease or Syndrome 13 0.010 None 1.000 1 2018 2018
CUI: C2242577
Disease: Oromandibular dystonia
Oromandibular dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 0.100 None 0
CUI: C0022790
Disease: Krukenberg Tumor
Krukenberg Tumor 		disease Neoplasms Neoplastic Process 15 0.010 None 1.000 1 2008 2008