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: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		disease Finding 149 527 0.100 None 1.000 1 1 2019 2019
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		phenotype Finding 147 526 0.100 None 1.000 1 1 2019 2019
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		phenotype Finding 147 526 0.100 None 1.000 1 1 2019 2019
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		phenotype Finding 147 526 0.100 None 1.000 1 1 2019 2019
CUI: C0376705
Disease: Viral Load result
Viral Load result 		phenotype Finding 65 91 0.100 None 1.000 1 1 2019 2019
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 1 2018 2018
CUI: C4479577
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		disease Disease or Syndrome 2 5 0.100 None 0 3
CUI: C0032269
Disease: Pneumococcal Infections
Pneumococcal Infections 		group Infections Disease or Syndrome 85 1 0.030 None 1.000 3 2017 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.030 None 1.000 3 2012 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 2017 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.020 None 1.000 2 2012 2019
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 3097 353 0.020 None 1.000 2 2012 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 2012 2017
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 2017 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 2012 2017
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 2018 2018
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.010 None 1.000 1 2016 2016
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2018 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.010 None 1.000 1 2016 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 2018 2018
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.010 None 1.000 1 2019 2019
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 1740 865 0.010 None 1.000 1 2013 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2012 2012
CUI: C0153690
Disease: Secondary malignant neoplasm of bone
Secondary malignant neoplasm of bone 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Musculoskeletal Diseases Neoplastic Process 647 18 0.010 None 1.000 1 2017 2017