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: C0795910
Disease: COWCHOCK SYNDROME
COWCHOCK SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 1 0.750 None 1.000 10 1 1985 2019
CUI: C3151753
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 		disease Disease or Syndrome 1 3 0.700 None 1.000 8 3 1985 2016
CUI: C1845095
Disease: DEAFNESS, X-LINKED 5 (disorder)
DEAFNESS, X-LINKED 5 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 17 0.700 definitive 1.000 6 17 2010 2017
CUI: C4304400
Disease: X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked hereditary sensory and autonomic neuropathy with deafness 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.300 definitive 1.000 6 2010 2017
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.040 None 1.000 4 1996 2018
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 48 144 0.040 None 1.000 4 1997 1999
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease Nutritional and Metabolic Diseases Disease or Syndrome 40 31 0.200 None 1.000 4 2002 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.030 None 1.000 3 2006 2019
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.320 None 1.000 3 2003 2012
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V 		disease Nervous System Diseases Disease or Syndrome 12 16 0.030 None 1.000 3 2007 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.020 None 1.000 2 2012 2013
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 3097 353 0.020 None 1.000 2 2009 2016
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.020 None 1.000 2 2001 2017
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		disease Eye Diseases Disease or Syndrome 148 10 0.500 None 1.000 2 2001 2008
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 53 11 0.020 None 1.000 2 2012 2018
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.020 None 1.000 2 2016 2018
CUI: C0393907
Disease: Axonal sensorimotor neuropathy
Axonal sensorimotor neuropathy 		disease Disease or Syndrome 9 2 0.020 None 1.000 2 2016 2018
CUI: C0752308
Disease: Hypoxia-Ischemia, Brain
Hypoxia-Ischemia, Brain 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 81 0.200 None 1.000 2 2003 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.020 None 1.000 2 2012 2018
CUI: C2732267
Disease: Auditory neuropathy spectrum disorder
Auditory neuropathy spectrum disorder 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 28 17 0.020 None 1.000 2 2 2006 2015
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.020 None 1.000 2 2019 2019
CUI: C0002152
Disease: Alloxan Diabetes
Alloxan Diabetes 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 112 0.300 None 1.000 1 2013 2013
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.010 None 1.000 1 2020 2020
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.010 None 1.000 1 2016 2016
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		disease Neoplasms Neoplastic Process 985 59 0.010 None 1.000 1 2000 2000