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: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 6 1 2006 2017
CUI: C0013371
Disease: Shigella Infections
Shigella Infections
group Digestive System Diseases; Infections Disease or Syndrome 121 0.050 None 1.000 5 1995 2017
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.040 None 1.000 4 2007 2016
CUI: C3888194
Disease: MIXED LINEAGE LEUKEMIA
MIXED LINEAGE LEUKEMIA
disease Neoplastic Process 240 2 0.030 None 1.000 3 2016 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.030 None 1.000 3 2006 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2014 2020
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
disease Digestive System Diseases; Infections Disease or Syndrome 1449 519 0.020 None 1.000 2 2016 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.020 None 1.000 2 2016 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.020 None 1.000 2 2016 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2019 2019
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 2111 144 0.020 None 1.000 2 2004 2010
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.020 None 1.000 2 2016 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.020 None 1.000 2 2018 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.020 None 1.000 2 2018 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 2006 2018
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 827 60 0.020 None 1.000 2 2017 2019
CUI: C0700636
Disease: Focal nodular hyperplasia of liver
Focal nodular hyperplasia of liver
disease Digestive System Diseases Disease or Syndrome 39 0.010 None 1.000 1 2017 2017
CUI: C0596321
Disease: Chemical Carcinogenesis
Chemical Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 71 2 0.010 None 1.000 1 2018 2018
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.010 None 1.000 1 2014 2014
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 1 1 2016 2016
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 1224 129 0.010 None 1.000 1 2016 2016
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 2019 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2019 2019
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 473 21 0.010 None 1.000 1 2019 2019
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.010 None 1.000 1 2014 2014