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.
MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 2 0.510 moderate 1.000 2 2015 2016
CUI: C0003534
Disease: Aphakia
Aphakia
disease Eye Diseases Anatomical Abnormality 5 3 0.010 None 1.000 1 2018 2018
CUI: C0018803
Disease: Heart Function Tests
Heart Function Tests
phenotype Diagnostic Procedure 17 27 0.100 None 1.000 1 1 2010 2010
CUI: C0429097
Disease: QRS complex feature
QRS complex feature
phenotype Finding 41 69 0.100 None 1.000 1 1 2016 2016
CUI: C0034888
Disease: Rectal Prolapse
Rectal Prolapse
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 46 1 0.010 None 1.000 1 2019 2019
CUI: C1867441
Disease: Pterygium Of Conjunctiva And Cornea
Pterygium Of Conjunctiva And Cornea
disease Eye Diseases Disease or Syndrome 169 4 0.010 None 1.000 1 1 2019 2019
CUI: C4520843
Disease: Pterygium of eye
Pterygium of eye
disease Eye Diseases Disease or Syndrome 169 4 0.010 None 1.000 1 1 2019 2019
CUI: C0033999
Disease: Pterygium
Pterygium
disease Eye Diseases Disease or Syndrome 216 5 0.010 None 1.000 1 1 2019 2019
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.010 None 1.000 1 2018 2018
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.010 None 1.000 1 2016 2016
CUI: C0042834
Disease: Vital capacity
Vital capacity
phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2018 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2018 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.010 None 1.000 1 2017 2017
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 4 6 2014 2019
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.110 None 1.000 1 2 2013 2013
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.010 None 1.000 1 2019 2019
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.010 None 1.000 1 2015 2015
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.010 None 1.000 1 2015 2015
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.020 None 0.500 2 2015 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2015 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2015 2015