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: C0020074
Disease: HSAN Type IV
HSAN Type IV
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 10 23 1.000 0.972 51 23 1978 2018
Hereditary Sensory Autonomic Neuropathy, Type 5
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 1 0.720 1.000 2 2001 2002
Familial medullary thyroid carcinoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Neoplasms Neoplastic Process 35 41 0.560 1.000 6 2 1995 2015
Hereditary Sensory Autonomic Neuropathy, Type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 16 7 0.500 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.410 strong 1.000 5 1996 2000
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
group Neoplasms Neoplastic Process 1698 288 0.400 1.000 40 1 1993 2015
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
disease Endocrine System Diseases; Neoplasms Neoplastic Process 570 74 0.400 0.947 19 1990 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.340 1.000 5 1999 2011
CUI: C0002768
Disease: Congenital Pain Insensitivity
Congenital Pain Insensitivity
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 10 0.340 1.000 4 2006 2018
CUI: C0017638
Disease: Glioma
Glioma
disease Neoplasms Neoplastic Process 2210 180 0.310 2 2007 2014
CUI: C0699739
Disease: Sensory Neuropathy, Hereditary
Sensory Neuropathy, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 10 1 0.310 1.000 1 2006 2006
Hereditary Sensory and Autonomic Neuropathies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 15 4 0.310 1 2006 2006
CUI: C0391976
Disease: Pain Disorder
Pain Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 29 1 0.300 strong 3 1996 2008
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality; Disease or Syndrome 45 10 0.300 strong 2 2015 2016
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma
disease Neoplastic Process 96 54 0.300 1 1 2007 2007
CUI: C0273115
Disease: Lung Injury
Lung Injury
disease Respiratory Tract Diseases; Wounds and Injuries Injury or Poisoning 20 0.300 1 2010 2010
CUI: C0423711
Disease: Neuralgia, Perineal
Neuralgia, Perineal
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 15 0.300 1 2009 2009
CUI: C2350344
Disease: Chronic Lung Injury
Chronic Lung Injury
disease Respiratory Tract Diseases; Wounds and Injuries Disease or Syndrome 26 0.300 1 2010 2010
CUI: C0042656
Disease: Neuralgia, Vidian
Neuralgia, Vidian
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 15 0.300 1 2009 2009
CUI: C0338831
Disease: Manic
Manic
disease Mental Disorders Mental or Behavioral Dysfunction 92 6 0.300 1 2005 2005
CUI: C0038870
Disease: Neuralgia, Supraorbital
Neuralgia, Supraorbital
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 15 0.300 1 2009 2009
CUI: C0036337
Disease: Schizoaffective Disorder
Schizoaffective Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 108 86 0.300 1 2005 2005
CUI: C0423712
Disease: Neuralgia, Iliohypogastric Nerve
Neuralgia, Iliohypogastric Nerve
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 15 0.300 1 2009 2009
CUI: C0036358
Disease: Schizophreniform Disorders
Schizophreniform Disorders
group Mental Disorders Mental or Behavioral Dysfunction 25 38 0.300 1 2005 2005
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders
group Mental Disorders Mental or Behavioral Dysfunction 316 113 0.300 1 2005 2005