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: C4748839
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 		disease Disease or Syndrome 2 4 0.600 None 1.000 2 4 2016 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2014 2014
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1718 245 0.010 None 1.000 1 2007 2007
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		disease Infections; Nervous System Diseases Disease or Syndrome 25 16 0.010 None 1.000 1 2017 2017
CUI: C0243026
Disease: Sepsis
Sepsis 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.200 None 1.000 1 2012 2012
CUI: C0274861
Disease: Arsenic Poisoning, Inorganic
Arsenic Poisoning, Inorganic 		disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 62 0.300 None 1.000 1 2006 2006
CUI: C0274862
Disease: Nervous System, Organic Arsenic Poisoning
Nervous System, Organic Arsenic Poisoning 		disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 62 0.300 None 1.000 1 2006 2006
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1881 283 0.010 None 1.000 1 2007 2007
CUI: C0311375
Disease: Arsenic Poisoning
Arsenic Poisoning 		disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 64 0.300 None 1.000 1 2006 2006
CUI: C0342776
Disease: Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 		disease Disease or Syndrome 51 4 0.010 None 1.000 1 2018 2018
CUI: C0751851
Disease: Arsenic Encephalopathy
Arsenic Encephalopathy 		disease Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome 62 0.300 None 1.000 1 2006 2006
CUI: C0751852
Disease: Arsenic Induced Polyneuropathy
Arsenic Induced Polyneuropathy 		disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 62 0.300 None 1.000 1 2006 2006
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease Nutritional and Metabolic Diseases Disease or Syndrome 40 31 0.310 moderate 1.000 1 2018 2018
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Injury or Poisoning 185 3 0.200 None 1.000 1 2012 2012
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 1553 320 0.010 None < 0.001 1 2020 2020
CUI: C4048328
Disease: cervical cancer
cervical cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1817 268 0.010 None 1.000 1 2007 2007
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.100 None 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 560 635 0.100 None 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 316 42 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.100 None 0
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 92 27 0.100 None 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 190 27 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.100 None 0