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: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.110 None 1.000 3 1 2014 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.100 None 1.000 2 3 2015 2017
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 2 2019 2019
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 1 1 2019 2019
CUI: C0018498
Disease: Hair Color
Hair Color
phenotype Organism Attribute 130 312 0.100 None 1.000 1 2 2018 2018
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 2 2019 2019
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 670 283 0.100 None 1.000 1 1 2017 2017
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 507 248 0.100 None 1.000 1 1 2015 2015
Malignant melanoma of skin of upper limb
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 32 42 0.100 None 1.000 1 1 2015 2015
Malignant melanoma of skin of lower limb
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 32 42 0.100 None 1.000 1 1 2015 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.050 None 1.000 5 2016 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.050 None 1.000 5 2017 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.050 None 1.000 5 2017 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.030 None 0.667 3 2017 2019
CUI: C0342257
Disease: Complications of Diabetes Mellitus
Complications of Diabetes Mellitus
group Endocrine System Diseases Disease or Syndrome 240 35 0.010 None 1.000 1 2019 2019
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 2016 2016
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85 0.010 None 1.000 1 2019 2019
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2016 2016
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
group Mental Disorders Mental or Behavioral Dysfunction 328 49 0.010 None 1.000 1 2018 2018
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 1286 214 0.010 None 1.000 1 2019 2019
Clear-cell metastatic renal cell carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 260 11 0.010 None 1.000 1 2019 2019
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.010 None 1.000 1 2019 2019
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx
disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 456 65 0.010 None 1.000 1 2019 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.010 None 1.000 1 2018 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.010 None 1.000 1 2018 2018