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: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 185 8 0.800 limited 0.972 72 1992 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.410 None 1.000 1 2009 2009
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 94 135 0.300 None 0.971 35 1994 2017
CUI: C0265222
Disease: Royer Syndrome
Royer Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 12 0.300 None 0
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy
disease Nervous System Diseases Disease or Syndrome 320 33 0.100 None 0.985 464 1 1995 2020
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
group Nervous System Diseases Disease or Syndrome 171 50 0.100 None 1.000 31 1998 2019
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease
disease Nervous System Diseases Disease or Syndrome 186 52 0.100 None 1.000 21 1997 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.100 None 1.000 20 2000 2020
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.100 None 1.000 18 1996 2018
HMN (Hereditary Motor Neuropathy) Proximal Type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 34 8 0.100 None 0.909 11 1996 2018
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 125 2 0.100 None 1.000 10 2005 2018
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests
phenotype Diagnostic Procedure 67 108 0.100 None 1.000 1 1 2007 2007
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding)
phenotype Finding 41 259 0.100 None 1.000 1 1 2007 2007
CUI: C0231921
Disease: Pulmonary function
Pulmonary function
phenotype Organ or Tissue Function 41 259 0.100 None 1.000 1 1 2007 2007
CUI: C2697788
Disease: Interleukin 8 Measurement
Interleukin 8 Measurement
phenotype Laboratory Procedure 5 5 0.100 None 1.000 1 1 2017 2017
CUI: C0575802
Disease: Small hand
Small hand
phenotype Finding 108 31 0.100 None 0
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity
disease Musculoskeletal Diseases Anatomical Abnormality 117 5 0.100 None 0
CUI: C0576226
Disease: Short foot
Short foot
phenotype Finding 116 0.100 None 0
CUI: C0877243
Disease: Increased serum serotonin
Increased serum serotonin
phenotype Finding 8 0.100 None 0
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype Finding 129 21 0.100 None 0
CUI: C1386091
Disease: Acromicria
Acromicria
disease Congenital Abnormality 13 0.100 None 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease Male Urogenital Diseases Congenital Abnormality 217 11 0.100 None 0
CUI: C0566620
Disease: Nasal voice
Nasal voice
phenotype Finding 93 3 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0