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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.350 None 0.714 7 2 2009 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.110 None 1.000 1 1 2009 2009
CUI: C1629609
Disease: Age at menopause
Age at menopause
phenotype Finding 129 209 0.100 None 1.000 1 1 2019 2019
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 88 6387 0.100 None 0 1
Hereditary Breast and Ovarian Cancer Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases Neoplastic Process 74 2117 0.100 None 0 1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.050 None 0.600 5 1 2009 2019
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 299 90 0.010 None 1.000 1 2019 2019
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue
group Neoplasms Neoplastic Process 699 32 0.010 None 1.000 1 2020 2020
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1171 66 0.010 None 1.000 1 2020 2020
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1169 66 0.010 None 1.000 1 2020 2020
CUI: C1261473
Disease: Sarcoma
Sarcoma
group Neoplasms Neoplastic Process 853 42 0.010 None 1.000 1 2020 2020
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 2014 2014
CUI: C0024299
Disease: Lymphoma
Lymphoma
group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1548 91 0.010 None 1.000 1 2020 2020
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 183 91 0.010 None 1.000 1 2009 2009
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 333 115 0.010 None 1.000 1 1 2019 2019
Extracavitary Primary Effusion Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 2 0.010 None 1.000 1 2020 2020