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: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 28 19 1.000 definitive 0.985 104 17 1982 2018
CUI: C3854181
Disease: Nevus sebaceous
Nevus sebaceous
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 11 9 0.720 1.000 2 1 2012 2018
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
disease Neoplastic Process 1161 165 0.700 1.000 36 3 1983 2016
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 2453 389 0.700 1.000 17 2 1984 2015
Malignant neoplasm of urinary bladder
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1143 157 0.700 1.000 16 2 1983 2015
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 1875 224 0.600 0.969 34 1 1986 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.600 0.964 32 1986 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.600 0.958 28 1986 2011
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1216 142 0.600 0.950 23 1 1983 2015
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 10 0.600 definitive 20 10 2005 2017
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
group Neoplasms Neoplastic Process 1698 288 0.600 1.000 13 1988 2015
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
disease Endocrine System Diseases; Neoplasms Neoplastic Process 720 81 0.540 1.000 5 1 1988 2013
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
disease Neoplasms Neoplastic Process 398 6 0.530 1.000 4 1988 1991
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 4 4 0.510 1.000 1 2 2012 2012
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.500 0.875 16 7 1989 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3592 419 0.500 0.900 15 6 1987 2016
CUI: C0030354
Disease: Papilloma
Papilloma
disease Neoplasms Neoplastic Process 203 5 0.500 0.833 13 1 1992 2006
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 1702 215 0.490 0.714 10 8 1988 2016
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
disease Endocrine System Diseases; Neoplasms Neoplastic Process 475 35 0.440 0.500 11 6 1990 2016
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 0.420 strong 1.000 2 1983 2016
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 396 11 0.420 1.000 2 2006 2007
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 300 203 0.410 1.000 2 7 2013 2016
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
disease Neoplasms Disease or Syndrome 11 12 0.410 1.000 1 3 2014 2014
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 2448 409 0.400 1.000 15 1986 2005
CUI: C1261473
Disease: Sarcoma
Sarcoma
group Neoplasms Neoplastic Process 657 20 0.400 1.000 10 1 1983 2016