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: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 166 36 0.900 0.937 342 15 1993 2018
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
disease Disease or Syndrome 64 42 0.700 0.949 345 20 1987 2018
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 22 31 0.600 0.960 26 5 1996 2010
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 571 436 0.410 1.000 3 1 2009 2018
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 83 22 0.400 0.954 407 10 1987 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 1981 1062 0.400 0.958 26 3 2001 2016
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
disease Digestive System Diseases; Virus Diseases Disease or Syndrome 782 89 0.400 0.958 25 4 1998 2014
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
phenotype Finding 1 1 0.400 12 1 1996 2008
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 1063 636 0.400 0.778 10 3 2002 2017
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group Hemic and Lymphatic Diseases Neoplastic Process 682 53 0.360 0.833 6 2 2003 2016
CUI: C0085762
Disease: Alcohol abuse
Alcohol abuse
disease Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 106 106 0.320 1.000 3 1 2003 2016
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
disease Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 361 102 0.310 1.000 3 2004 2014
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group Cardiovascular Diseases Disease or Syndrome 418 387 0.310 strong 1 2006 2006
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset
disease Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 84 2 0.300 2 2004 2006
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 187 62 0.300 2 2004 2006
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 115 55 0.300 2 2004 2006
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
disease Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 252 110 0.300 2 2004 2006
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia
disease Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 84 2 0.300 2 2004 2006
CUI: C2713368
Disease: Hematopoetic Myelodysplasia
Hematopoetic Myelodysplasia
disease Hemic and Lymphatic Diseases Pathologic Function 36 0.300 1 2007 2007
CUI: C0023176
Disease: Lead Poisoning
Lead Poisoning
disease Substance-Related Disorders Injury or Poisoning 6 0.300 1 2010 2010
CUI: C0005612
Disease: Birth Weight
Birth Weight
phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 43 80 0.300 1 2010 2010
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 153 1189 0.300 limited 1 2013 2013
Idiopathic hypogonadotropic hypogonadism
disease Endocrine System Diseases Disease or Syndrome 62 42 0.300 strong 0
CUI: C0008370
Disease: Cholestasis
Cholestasis
disease Digestive System Diseases Disease or Syndrome 314 5 0.300 strong 0
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease Disease or Syndrome 91 2 0.300 limited 0