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.
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
Secondary malignant neoplasm of colon and/or rectum 		disease Digestive System Diseases; Neoplasms Neoplastic Process 397 68 0.040 None 1.000 4 2014 2018
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.020 None 1.000 2 2017 2017
CUI: C0280856
Disease: Squamous cell carcinoma of vulva
Squamous cell carcinoma of vulva 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 57 2 0.020 None 1.000 2 2018 2020
CUI: C0861727
Disease: Pancreatic adenocarcinoma metastatic
Pancreatic adenocarcinoma metastatic 		disease Neoplastic Process 32 2 0.020 None 1.000 2 2018 2019
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.020 None 1.000 2 2019 2019
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 2017 2018
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1235 197 0.020 None 1.000 2 2019 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 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 2020 2020
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1598 96 0.010 None 1.000 1 2019 2019
CUI: C1261473
Disease: Sarcoma
Sarcoma 		group Neoplasms Neoplastic Process 853 42 0.010 None 1.000 1 2019 2019
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1159 704 0.010 None 1.000 1 2019 2019
CUI: C0518989
Disease: Acute diverticulitis
Acute diverticulitis 		disease Digestive System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C0341106
Disease: Eosinophilic esophagitis
Eosinophilic esophagitis 		disease Digestive System Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 183 40 0.010 None 1.000 1 2018 2018
CUI: C1851841
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 129 5 0.010 None 1.000 1 2019 2019
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 15 10 0.010 None 1.000 1 2019 2019
CUI: C4551687
Disease: Sarcoma of soft tissue
Sarcoma of soft tissue 		group Neoplasms Neoplastic Process 258 6 0.010 None 1.000 1 2019 2019
CUI: C4551538
Disease: refractory multiple myeloma
refractory multiple myeloma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 50 1 0.010 None 1.000 1 2020 2020
CUI: C4288754
Disease: Metastatic urothelial carcinoma
Metastatic urothelial carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 28 0.010 None 1.000 1 2018 2018
CUI: C4048328
Disease: cervical cancer
cervical cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1817 268 0.010 None 1.000 1 2019 2019
CUI: C3898127
Disease: Non-Metastatic Childhood Soft Tissue Sarcoma
Non-Metastatic Childhood Soft Tissue Sarcoma 		disease Neoplastic Process 160 3 0.010 None 1.000 1 2019 2019
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1674 99 0.010 None 1.000 1 2019 2019
CUI: C2717836
Disease: Steroid Sulfatase Deficiency Disease
Steroid Sulfatase Deficiency Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 181 5 0.010 None 1.000 1 2019 2019
CUI: C2004493
Disease: Leukemia, B-Cell
Leukemia, B-Cell 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 239 2 0.010 None 1.000 1 2019 2019