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: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 299 48 0.800 definitive 0.926 144 48 1964 2018
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Neoplastic Process 2377 364 0.700 0.941 169 2 1994 2018
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 2397 341 0.700 0.947 117 4 1997 2018
CUI: C0206692
Disease: Carcinoma, Lobular
Carcinoma, Lobular
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 57 1 0.700 1.000 16 1996 2013
CUI: C1861536
Disease: Blepharo-cheilo-dontic syndrome
Blepharo-cheilo-dontic syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 2 1 0.610 1.000 1 1 2018 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.600 0.962 58 8 1997 2017
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular
disease Neoplastic Process 21 1 0.600 definitive 1.000 36 1 1991 2016
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 834 23 0.600 1.000 32 1998 2017
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1216 142 0.600 1.000 13 2000 2016
Malignant neoplasm of urinary bladder
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1143 157 0.580 0.875 10 2001 2016
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 0.550 1.000 6 1994 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.500 0.969 68 6 1992 2017
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.500 0.931 29 3 1997 2018
GASTRIC CANCER, FAMILIAL DIFFUSE, AND CLEFT LIP WITH OR WITHOUT CLEFT PALATE
disease Neoplastic Process 1 1 0.500 definitive 14 1 1991 2016
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 839 145 0.500 0.909 12 1994 2016
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 3919 129 0.400 0.969 80 1993 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2931 539 0.400 0.964 28 3 1999 2018
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 1875 224 0.400 0.909 27 2001 2017
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Male Urogenital Diseases; Neoplasms Neoplastic Process 1553 25 0.400 < 0.001 23 1997 2018
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.400 0.800 20 2002 2016
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1072 226 0.400 1.000 19 1999 2010
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Male Urogenital Diseases; Neoplasms Neoplastic Process 3238 563 0.400 0.867 18 1 1997 2018
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
disease Digestive System Diseases Disease or Syndrome 914 696 0.400 0.900 10 1997 2016
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 217 2 0.370 1.000 9 1996 2016
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
disease Neoplastic Process 2202 316 0.370 1.000 8 1 1994 2016