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: C3808667
Disease: EPISODIC PAIN SYNDROME, FAMILIAL, 1
EPISODIC PAIN SYNDROME, FAMILIAL, 1
disease Disease or Syndrome 1 1 0.600 None 1.000 3 1 2010 2018
CUI: C0178422
Disease: Cramp in foot
Cramp in foot
phenotype Sign or Symptom 1 0.010 None 1.000 1 2017 2017
CUI: C0751381
Disease: Foley-Denny-Brown Syndrome
Foley-Denny-Brown Syndrome
disease Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C1096717
Disease: Pain during injection
Pain during injection
phenotype Sign or Symptom 3 0.010 None 1.000 1 2010 2010
CUI: C0549386
Disease: Sensation of warmth
Sensation of warmth
phenotype Sign or Symptom 4 0.010 None 1.000 1 2018 2018
CUI: C0268849
Disease: Overactive Detrusor
Overactive Detrusor
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 5 0.300 None 1.000 2 2011 2013
CUI: C0748035
Disease: pruritus chronic
pruritus chronic
disease Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C0152027
Disease: Sensory Disorders
Sensory Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2008 2008
CUI: C0017567
Disease: Gingival Hypertrophy
Gingival Hypertrophy
disease Stomatognathic Diseases Disease or Syndrome 7 0.010 None 1.000 1 2017 2017
CUI: C0036280
Disease: Burn scar
Burn scar
disease Pathological Conditions, Signs and Symptoms; Wounds and Injuries Acquired Abnormality 11 0.010 None 1.000 1 2015 2015
CUI: C0262385
Disease: Autonomic nervous system imbalance
Autonomic nervous system imbalance
disease Nervous System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2017 2017
CUI: C0948249
Disease: Femoral artery occlusion
Femoral artery occlusion
disease Cardiovascular Diseases Disease or Syndrome 12 0.020 None 1.000 2 2017 2017
CUI: C3489856
Disease: Cold Hypersensitivity
Cold Hypersensitivity
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 12 0.200 None 1.000 1 2010 2010
CUI: C0002768
Disease: Congenital Pain Insensitivity
Congenital Pain Insensitivity
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 14 0.010 None 1.000 1 2014 2014
CUI: C0010201
Disease: Chronic cough
Chronic cough
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 14 1 0.010 None 1.000 1 2019 2019
CUI: C0730321
Disease: Punctate inner choroidopathy
Punctate inner choroidopathy
disease Eye Diseases Disease or Syndrome 14 0.010 None 1.000 1 2019 2019
CUI: C0037383
Disease: Sneezing
Sneezing
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 21 2 0.300 None 1.000 1 2017 2017
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 1 2016 2016
Indifference to Pain, Congenital, Autosomal Recessive
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 23 11 0.010 None 1.000 1 2014 2014
CUI: C0085423
Disease: Gram-Negative Bacterial Infections
Gram-Negative Bacterial Infections
group Infections Disease or Syndrome 24 3 0.010 None 1.000 1 2018 2018
CUI: C3178766
Disease: Nociceptive Pain
Nociceptive Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 25 0.010 None 1.000 1 2017 2017
CUI: C0043395
Disease: Yellow Fever
Yellow Fever
disease Infections Disease or Syndrome 28 0.010 None 1.000 1 2018 2018
CUI: C0085624
Disease: Burning sensation
Burning sensation
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 30 0.010 None 1.000 1 2019 2019
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 30 96 0.010 None 1.000 1 2017 2017
CUI: C3276706
Disease: Small Fiber Neuropathy
Small Fiber Neuropathy
disease Nervous System Diseases Disease or Syndrome 35 8 0.010 None 1.000 1 2014 2014