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: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 2025 244 0.760 definitive 1.000 17 2 2001 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.700 0.977 45 4 2001 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.700 0.971 34 3 2004 2017
FANCONI ANEMIA, COMPLEMENTATION GROUP J
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 3 64 0.660 1.000 41 64 2005 2018
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 153 705 0.650 limited 1.000 41 67 2001 2017
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 289 91 0.600 0.944 38 2005 2016
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 937 83 0.600 21 28 2005 2018
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
disease Neoplastic Process 2202 316 0.470 1.000 7 4 2006 2016
Hereditary Breast and Ovarian Cancer Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 51 1572 0.420 1.000 10 9 2005 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 strong 0
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.350 1.000 5 2004 2009
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial
disease Male Urogenital Diseases; Neoplasms Neoplastic Process 52 21 0.310 limited 1.000 2 2010 2016
CUI: C0158995
Disease: Congenital anemia
Congenital anemia
disease Disease or Syndrome 208 0.300 strong 4 2004 2005
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype Pathologic Function 206 0.300 strong 4 2004 2005
CUI: C4025414
Disease: Radial club hand
Radial club hand
disease Congenital Abnormality 58 0.300 strong 4 2004 2005
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 556 37 0.300 strong 2 2017 2017
CUI: C1861906
Disease: Breast Cancer, Familial Male
Breast Cancer, Familial Male
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 12 111 0.300 2 1 2001 2004
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 209 368 0.300 strong 2 2005 2005
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 475 0.300 0
Neoplasm of uncertain or unknown behavior of ovary
disease Neoplastic Process 34 0.300 0
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease Congenital Abnormality 115 9 0.300 strong 0
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm
disease Neoplasms Neoplastic Process 469 41 0.300 strong 0
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma
disease Neoplastic Process 167 7 0.300 0
Neoplasm of uncertain or unknown behavior of breast
disease Neoplastic Process 43 0.300 0
Esophageal atresia with or without tracheoesophageal fistula
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 27 8 0.300 0