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: C4012597
Disease: ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE
ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C4021548
Disease: Adrenocorticotropin receptor defect
Adrenocorticotropin receptor defect 		phenotype Finding 1 0.100 None 0
CUI: C4023807
Disease: Abnormality of the hypothenar eminence
Abnormality of the hypothenar eminence 		phenotype Anatomical Abnormality 3 0.100 None 0
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: 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: C0003079
Disease: Anisocoria
Anisocoria 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 7 5 0.100 None 0
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		disease Disease or Syndrome 9 4 0.010 None < 0.001 1 2007 2007
CUI: C4021779
Disease: Abnormality of the calf musculature
Abnormality of the calf musculature 		disease Anatomical Abnormality 9 2 0.100 None 0
CUI: C1856954
Disease: Plantar hyperkeratosis
Plantar hyperkeratosis 		phenotype Finding 11 0.100 None 0
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 12 18 0.010 None 1.000 1 2008 2008
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: 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: C0857899
Disease: Decreased circulating aldosterone level
Decreased circulating aldosterone level 		phenotype Immune System Diseases; Endocrine System Diseases Finding 16 0.100 None 0
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: C4551650
Disease: Esophageal Stricture
Esophageal Stricture 		disease Digestive System Diseases Disease or Syndrome 20 2 0.100 None 0 1
CUI: C1836623
Disease: Decreased circulating cortisol level
Decreased circulating cortisol level 		phenotype Immune System Diseases; Endocrine System Diseases Finding 23 2 0.100 None 0
CUI: C2749625
Disease: Motor axonal neuropathy
Motor axonal neuropathy 		phenotype Finding 27 4 0.100 None 0
CUI: C1849156
Disease: Spastic Ataxia
Spastic Ataxia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 28 3 0.010 None 1.000 1 2018 2018
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
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 39 6 0.100 None 0
CUI: C1321756
Disease: Achalasia
Achalasia 		disease Disease or Syndrome 40 5 0.030 None 1.000 3 1 2005 2009
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: 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: C4024878
Disease: Generalized hyperpigmentation
Generalized hyperpigmentation 		phenotype Skin and Connective Tissue Diseases Finding 42 0.100 None 0
CUI: C4025821
Disease: Anterior hypopituitarism
Anterior hypopituitarism 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 48 0.100 None 0