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.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
disease Mental or Behavioral Dysfunction 1 21 0.700 strong 1.000 9 21 2010 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
disease Disease or Syndrome 1 12 0.700 strong 1.000 4 12 2014 2017
CUI: C1504541
Disease: Cerebellitis
Cerebellitis
disease Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C3850153
Disease: Ovarian Reserve
Ovarian Reserve
phenotype Organ or Tissue Function 2 4 0.100 None 1.000 1 1 2012 2012
CUI: C0853946
Disease: Pain worsened
Pain worsened
phenotype Sign or Symptom 3 0.010 None 1.000 1 2017 2017
CUI: C0521686
Disease: Glaucomatous retinal degeneration
Glaucomatous retinal degeneration
disease Eye Diseases Disease or Syndrome 4 0.010 None 1.000 1 2013 2013
CUI: C0423673
Disease: Pain in spine
Pain in spine
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 12 0.010 None 1.000 1 2016 2016
CUI: C0559469
Disease: Allergy to eggs
Allergy to eggs
phenotype Immune System Diseases Disease or Syndrome 13 3 0.200 None 1.000 1 2009 2009
CUI: C0007398
Disease: Catatonia
Catatonia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 14 2 0.010 None 1.000 1 2019 2019
CUI: C0037316
Disease: Sleep Deprivation
Sleep Deprivation
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Finding 14 0.200 None 1.000 1 2010 2010
CUI: C0158026
Disease: Monoarthritis
Monoarthritis
disease Musculoskeletal Diseases Disease or Syndrome 14 1 0.010 None 1.000 1 2017 2017
CUI: C1656427
Disease: Early onset schizophrenia
Early onset schizophrenia
disease Mental or Behavioral Dysfunction 15 3 0.010 None 1.000 1 2019 2019
CUI: C0393702
Disease: Myoclonic Astatic Epilepsy
Myoclonic Astatic Epilepsy
disease Nervous System Diseases Disease or Syndrome 16 0.010 None 1.000 1 2017 2017
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Anatomical Abnormality 16 2 0.100 None 0
CUI: C0025221
Disease: Meleda Disease
Meleda Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 18 15 0.010 None 1.000 1 2004 2004
CUI: C0085625
Disease: Hypoalgesia
Hypoalgesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Sign or Symptom 23 7 0.010 None 1.000 1 2017 2017
CUI: C0563243
Disease: Poor coordination
Poor coordination
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 26 8 0.100 None 0 1
CUI: C0234252
Disease: Mechanical pain
Mechanical pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 30 4 0.010 None 1.000 1 2017 2017
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased
phenotype Finding 30 46 0.100 None 0 1
CUI: C3888788
Disease: Minimal hepatic encephalopathy
Minimal hepatic encephalopathy
disease Disease or Syndrome 31 0.010 None 1.000 1 2017 2017
Central Nervous System Sensitization
disease Disease or Syndrome 32 1 0.020 None 1.000 2 2018 2018
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 32 21 0.200 None 1.000 1 2002 2002
CUI: C1858091
Disease: Long fingers
Long fingers
phenotype Finding 32 6 0.100 None 0 1
Neuropsychiatric Systemic Lupus Erythematosus
disease Infections; Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 33 3 0.020 None 1.000 2 2017 2018
CUI: C0920296
Disease: Developmental reading disorder
Developmental reading disorder
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 33 32 0.010 None 1.000 1 2015 2015