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.
BLEEDING DISORDER, PLATELET-TYPE, 19
disease Disease or Syndrome 1 1 0.700 strong 1.000 1 1 2014 2014
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 34 31 0.130 None 1.000 3 1 2014 2015
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.100 None 0
CUI: C1697453
Disease: Spontaneous hematomas
Spontaneous hematomas
disease Disease or Syndrome 33 0.100 None 0
CUI: C0025323
Disease: Menorrhagia
Menorrhagia
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Pathologic Function 34 6 0.100 None 0
CUI: C0014591
Disease: Epistaxis
Epistaxis
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Pathologic Function 82 4 0.100 None 0
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.040 None 1.000 4 2015 2018
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.030 None 1.000 3 2017 2018
CUI: C4289580
Disease: Epithelioid glioblastoma
Epithelioid glioblastoma
disease Neoplastic Process 24 3 0.020 None 1.000 2 2014 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2011 2018
CUI: C0679427
Disease: myeloblastosis
myeloblastosis
disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 72 0.020 None 0.500 2 2018 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.020 None 1.000 2 2018 2019
CUI: C0005818
Disease: Blood Platelet Disorders
Blood Platelet Disorders
group Hemic and Lymphatic Diseases Disease or Syndrome 59 5 0.020 None 1.000 2 2014 2015
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.020 None 1.000 2 2018 2020
CUI: C0679395
Disease: vascular ischemia
vascular ischemia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 12 0.010 None 1.000 1 2011 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2015 2015
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2104 309 0.010 None 1.000 1 2012 2012
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.010 None 1.000 1 2018 2018
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
Pleomorphic Xanthoastrocytoma
disease Neoplasms Neoplastic Process 42 8 0.010 None 1.000 1 2014 2014
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.010 None 1.000 1 2019 2019
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2012 2012
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2018 2018
EAR, PATELLA, SHORT STATURE SYNDROME
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 78 12 0.010 None 1.000 1 2013 2013
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis
phenotype Disease or Syndrome 328 0.010 None 1.000 1 2019 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2017 2017