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: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 294 116 1.000 definitive 0.977 266 89 1981 2020
CUI: C1527231
Disease: Adrenomyeloneuropathy
Adrenomyeloneuropathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 38 2 0.600 definitive 0.974 38 1 1984 2019
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 75 37 0.310 strong 1.000 3 2005 2013
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 123 41 0.310 strong 1.000 3 2007 2015
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		phenotype Endocrine System Diseases Disease or Syndrome 90 10 0.310 strong 1.000 3 2007 2013
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: 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: C0497327
Disease: Dementia
Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.120 None 1.000 2 2007 2013
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.110 None 1.000 2 1 1994 1998
CUI: C0014038
Disease: Encephalitis
Encephalitis 		disease Nervous System Diseases Disease or Syndrome 324 18 0.110 None 1.000 1 1 2012 2012
CUI: C0001403
Disease: Addison Disease
Addison Disease 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 111 13 0.110 None 1.000 1 2004 2004
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.100 None 1.000 17 1996 2019
CUI: C0085606
Disease: Urgency of micturition
Urgency of micturition 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Sign or Symptom 40 1 0.100 None 1.000 1 1 1998 1998
CUI: C1849134
Disease: Impaired vibration sensation in the lower limbs
Impaired vibration sensation in the lower limbs 		phenotype Finding 39 4 0.100 None 1.000 1 1 1998 1998
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype Finding 218 11 0.100 None 1.000 1 1 1998 1998
CUI: C0042025
Disease: Urinary Stress Incontinence
Urinary Stress Incontinence 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 79 5 0.100 None 1.000 1 1 1998 1998
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation 		phenotype Finding 41 4 0.100 None 1.000 1 1 1998 1998
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 23 0.100 None 1.000 1 1 1998 1998
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype Finding 129 21 0.100 None 1.000 1 1 1998 1998
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 38 6 0.100 None 1.000 1 1 1998 1998
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 1.000 1 1 1998 1998
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: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 1 0.100 None 1.000 1 1 1998 1998
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		phenotype Finding 32 5 0.100 None 1.000 1 1 1998 1998
CUI: C0240914
Disease: Romberg's sign positive
Romberg's sign positive 		phenotype Finding 15 6 0.100 None 1.000 1 1 1998 1998