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.
Total anomalous pulmonary venous return
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 16 0.010 None < 0.001 1 2018 2018
CUI: C0339682
Disease: Regular astigmatism - corneal
Regular astigmatism - corneal
disease Eye Diseases Disease or Syndrome 34 28 0.100 None 1.000 1 1 2018 2018
CUI: C0376705
Disease: Viral Load result
Viral Load result
phenotype Finding 65 91 0.100 None 1.000 1 1 2019 2019
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
phenotype Laboratory Procedure 131 224 0.100 None 1.000 1 1 2016 2016
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
phenotype Laboratory Procedure 138 216 0.100 None 1.000 1 1 2016 2016
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO
phenotype Finding 147 526 0.100 None 1.000 1 1 2019 2019
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
phenotype Finding 147 526 0.100 None 1.000 1 1 2019 2019
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO
phenotype Finding 147 526 0.100 None 1.000 1 1 2019 2019
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
disease Finding 149 527 0.100 None 1.000 1 1 2019 2019
CUI: C0178664
Disease: Glomerulosclerosis (disorder)
Glomerulosclerosis (disorder)
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 221 3 0.010 None 1.000 1 2017 2017
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 246 45 0.010 None 1.000 1 2017 2017
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 281 46 0.010 None 1.000 1 2017 2017
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder
disease Eye Diseases Disease or Syndrome 304 56 0.010 None 1.000 1 2010 2010
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 308 454 0.100 None 1.000 1 1 2009 2009
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
disease Eye Diseases Disease or Syndrome 383 222 0.010 None 1.000 1 1 2010 2010
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.020 None 1.000 2 2017 2017
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.020 None 1.000 2 2017 2017
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
disease Neoplasms Neoplastic Process 615 39 0.010 None 1.000 1 2005 2005
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy
disease Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 645 213 0.010 None 1.000 1 2019 2019
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease Eye Diseases Disease or Syndrome 770 198 0.010 None 1.000 1 2010 2010
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
disease Neoplasms Neoplastic Process 985 59 0.010 None 1.000 1 2005 2005
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1348 204 0.010 None 1.000 1 2017 2017
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.110 None 1.000 1 1 2010 2010
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2019 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2019 2019