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: C0549609
Disease: Dysfunction adrenal
Dysfunction adrenal 		disease Endocrine System Diseases Disease or Syndrome 2 0.020 None 1.000 2 1997 2019
CUI: C1845408
Disease: Contiguous Abcd1-Dxs1375e Deletion Syndrome
Contiguous Abcd1-Dxs1375e Deletion Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 2 0.310 None 1.000 2 2002 2013
CUI: C4750847
Disease: Contiguous ABCD1 DXS1357E deletion syndrome
Contiguous ABCD1 DXS1357E deletion syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2013 2013
CUI: C1868690
Disease: Hypoadrenocorticism, familial
Hypoadrenocorticism, familial 		disease Endocrine System Diseases Disease or Syndrome 2 1 0.100 None 0 1
CUI: C0007795
Disease: Diffuse Cerebral Sclerosis of Schilder
Diffuse Cerebral Sclerosis of Schilder 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 4 0.200 None 1.000 5 1997 2004
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 1 0.010 None 1.000 1 2019 2019
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		phenotype Finding 7 7 0.100 None 1.000 1 1 1998 1998
CUI: C4021585
Disease: Impaired distal proprioception
Impaired distal proprioception 		phenotype Finding 7 1 0.100 None 1.000 1 1 1998 1998
CUI: C4684865
Disease: Cerebral Adrenoleukodystrophy
Cerebral Adrenoleukodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 9 0.080 None 1.000 8 2010 2019
CUI: C1854372
Disease: Impaired vibration sensation at ankles
Impaired vibration sensation at ankles 		phenotype Finding 9 0.100 None 0
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 11 26 0.010 None 1.000 1 2018 2018
CUI: C0405581
Disease: Testicular dysfunction
Testicular dysfunction 		disease Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 13 0.010 None 1.000 1 2016 2016
CUI: C0240914
Disease: Romberg's sign positive
Romberg's sign positive 		phenotype Finding 15 6 0.100 None 1.000 1 1 1998 1998
CUI: C3279397
Disease: Very long chain fatty acid accumulation
Very long chain fatty acid accumulation 		phenotype Finding 15 1 0.100 None 1.000 1 1 1998 1998
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 18 2 0.010 None 1.000 1 1984 1984
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 19 5 0.100 None 1.000 1 1 1998 1998
CUI: C0338455
Disease: Dementia of frontal lobe type
Dementia of frontal lobe type 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 20 0.010 None 1.000 1 2007 2007
CUI: C0749379
Disease: Thoracolumbar scoliosis
Thoracolumbar scoliosis 		disease Musculoskeletal Diseases Disease or Syndrome 20 17 0.100 None 1.000 1 1 1998 1998
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 25 1 0.050 None 0.800 5 1999 2019
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder) 		disease Skin and Connective Tissue Diseases Anatomical Abnormality 27 7 0.100 None 0 1
CUI: C1843663
Disease: Urinary bladder sphincter dysfunction
Urinary bladder sphincter dysfunction 		phenotype Finding 28 1 0.100 None 0
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 31 28 0.010 None 1.000 1 2004 2004
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 31 7 0.100 None 1.000 1 1 1998 1998
CUI: C0221166
Disease: Paraparesis
Paraparesis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 31 5 0.100 None 0
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		phenotype Finding 32 5 0.100 None 1.000 1 1 1998 1998