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: C0404484
Disease: Chronic pelvic pain of female
Chronic pelvic pain of female 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Sign or Symptom 15 0.010 None 1.000 1 2017 2017
CUI: C1282609
Disease: Granulocytosis
Granulocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 15 1 0.010 None 1.000 1 1998 1998
CUI: C3805083
Disease: Portal fibrosis
Portal fibrosis 		phenotype Digestive System Diseases Disease or Syndrome 15 0.010 None 1.000 1 2019 2019
CUI: C1856691
Disease: Impaired proprioception
Impaired proprioception 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 15 3 0.100 None 0
CUI: C2938912
Disease: Hyperintensity of cerebral white matter on MRI
Hyperintensity of cerebral white matter on MRI 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 15 1 0.100 None 0
CUI: C2955673
Disease: Urate nephropathy
Urate nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 16 0.010 None 1.000 1 2019 2019
CUI: C0025294
Disease: Meningococcal meningitis
Meningococcal meningitis 		disease Infections; Nervous System Diseases Disease or Syndrome 17 3 0.010 None 1.000 1 2013 2013
CUI: C0854706
Disease: Neonatal infection
Neonatal infection 		disease Disease or Syndrome 17 0.010 None 1.000 1 2019 2019
CUI: C1332884
Disease: Central nervous system leukaemia
Central nervous system leukaemia 		disease Neoplasms Neoplastic Process 17 1 0.010 None 1.000 1 2011 2011
CUI: C1853578
Disease: Neuroferritinopathy
Neuroferritinopathy 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 17 5 0.010 None 1.000 1 2006 2006
CUI: C3647143
Disease: Secondary malignant neoplasm of ovary
Secondary malignant neoplasm of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 17 2 0.010 None 1.000 1 2008 2008
CUI: C0751776
Disease: Atypical Inclusion-Body Disease
Atypical Inclusion-Body Disease 		disease Nervous System Diseases Disease or Syndrome 17 0.300 None 0
CUI: C0751777
Disease: Familial Progressive Myoclonic Epilepsy
Familial Progressive Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 17 0.300 None 0
CUI: C0751780
Disease: Biotin-Responsive Encephalopathy
Biotin-Responsive Encephalopathy 		disease Nervous System Diseases Disease or Syndrome 17 0.300 None 0
CUI: C0751782
Disease: May-White Syndrome
May-White Syndrome 		disease Nervous System Diseases Disease or Syndrome 17 0.300 None 0
CUI: C1856119
Disease: Low hanging columella
Low hanging columella 		phenotype Finding 17 1 0.100 None 0
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 18 1 0.010 None 1.000 1 2008 2008
CUI: C2677092
Disease: MYD88 Deficiency
MYD88 Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 19 4 0.010 None 1.000 1 2018 2018
CUI: C0850758
Disease: Pelvic pain female
Pelvic pain female 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 20 0.010 None 1.000 1 2011 2011
CUI: C0936282
Disease: Blastoma
Blastoma 		disease Neoplasms Neoplastic Process 20 0.010 None 1.000 1 2019 2019
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		disease Neoplasms Neoplastic Process 20 133 0.010 None 1.000 1 2019 2019
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		disease Nervous System Diseases Disease or Syndrome 20 20 0.300 None 0
CUI: C3809768
Disease: IMMUNODEFICIENCY 13
IMMUNODEFICIENCY 13 		disease Disease or Syndrome 22 1 0.010 None 1.000 1 2019 2019
CUI: C1836479
Disease: Saccadic smooth pursuit
Saccadic smooth pursuit 		phenotype Finding 22 5 0.100 None 0
CUI: C0030794
Disease: Pelvic Pain
Pelvic Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 23 0.010 None 1.000 1 2011 2011