AAAS, aladin WD repeat nucleoporin, 8086

N. diseases: 92; N. variants: 23
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: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		disease Digestive System Diseases; Endocrine System Diseases Disease or Syndrome 17 20 0.800 None 0.980 50 18 2000 2019
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 6 1 1980 2015
CUI: C0344505
Disease: Alacrima
Alacrima 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 16 1 0.150 None 1.000 5 1 2003 2013
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		phenotype Endocrine System Diseases Disease or Syndrome 90 10 0.140 None 1.000 4 2005 2010
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia 		disease Digestive System Diseases Disease or Syndrome 49 5 0.130 None 1.000 3 1 2005 2009
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction 		disease Endocrine System Diseases Disease or Syndrome 52 5 0.030 None 1.000 3 2005 2010
CUI: C1321756
Disease: Achalasia
Achalasia 		disease Disease or Syndrome 40 5 0.030 None 1.000 3 1 2005 2009
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		disease Nervous System Diseases Disease or Syndrome 148 18 0.120 None 1.000 2 1 2005 2019
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		disease Nervous System Diseases Disease or Syndrome 186 52 0.020 None 1.000 2 1 2010 2019
CUI: C1145628
Disease: Autonomic nervous system disorders
Autonomic nervous system disorders 		group Nervous System Diseases Disease or Syndrome 73 7 0.020 None 1.000 2 1 2005 2019
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 280 35 0.020 None 1.000 2 2019 2019
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.020 None 1.000 2 2019 2019
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 42 24 0.010 None 1.000 1 2008 2008
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		disease Cardiovascular Diseases Disease or Syndrome 586 90 0.010 None 1.000 1 2013 2013
CUI: C3554366
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q 		disease Disease or Syndrome 4 3 0.010 None 1.000 1 2018 2018
CUI: C0151467
Disease: Addisonian crisis
Addisonian crisis 		disease Pathological Conditions, Signs and Symptoms; Endocrine System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2010 2010
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 116 15 0.010 None 1.000 1 2007 2007
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 156 4 0.010 None 1.000 1 2016 2016
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 373 95 0.010 None 1.000 1 2018 2018
CUI: C0262404
Disease: Cerebellar degeneration
Cerebellar degeneration 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 60 0.010 None 1.000 1 2009 2009
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		disease Nervous System Diseases Disease or Syndrome 59 13 0.010 None 1.000 1 1 2008 2008
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2012 2012
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 41 38 0.010 None 1.000 1 2017 2017
CUI: C0859976
Disease: Idiopathic achalasia of esophagus
Idiopathic achalasia of esophagus 		disease Digestive System Diseases Disease or Syndrome 15 2 0.010 None < 0.001 1 2005 2005
CUI: C1833662
Disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 34 6 0.010 None 1.000 1 2017 2017