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: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Finding 42 1 0.100 None 0
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 232 72 0.100 None 0
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 766 118 0.020 None 1.000 2 2017 2017
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1169 66 0.010 None 1.000 1 2012 2012
CUI: C1879312
Disease: Agyria
Agyria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 20 0.300 None 0
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
disease Cardiovascular Diseases Disease or Syndrome 278 19 0.100 None 0
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency
disease Cardiovascular Diseases Disease or Syndrome 377 8 0.100 None 0
CUI: C0004106
Disease: Astigmatism
Astigmatism
disease Eye Diseases Disease or Syndrome 148 45 0.010 None 1.000 1 2019 2019
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency
phenotype Hemic and Lymphatic Diseases Pathologic Function 71 14 0.100 None 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2018 2018
CUI: C0233705
Disease: Cancerophobia
Cancerophobia
disease Mental Disorders Mental or Behavioral Dysfunction 17 0.010 None 1.000 1 2018 2018
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1171 66 0.010 None 1.000 1 2012 2012
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 23 0.330 moderate 1.000 3 2016 2020
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.020 None 1.000 2 2018 2019
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk
phenotype Finding 77 0.100 None 0
CUI: C0011334
Disease: Dental caries
Dental caries
disease Stomatognathic Diseases Disease or Syndrome 330 126 0.010 None 1.000 1 2017 2017
CUI: C0011649
Disease: Dermoid Cyst
Dermoid Cyst
disease Neoplasms Neoplastic Process 33 0.010 None 1.000 1 2020 2020
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
phenotype Finding 427 32 0.100 None 0
CUI: C0013238
Disease: Dry Eye Syndromes
Dry Eye Syndromes
disease Eye Diseases Disease or Syndrome 156 1 0.010 None 1.000 1 2018 2018
CUI: C0314719
Disease: Dryness of eye
Dryness of eye
phenotype Eye Diseases Sign or Symptom 149 1 0.010 None 1.000 1 2018 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.020 None 1.000 2 2017 2018
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
disease Digestive System Diseases Disease or Syndrome 446 52 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.020 None 1.000 2 2018 2019