Source: CLINVAR ×
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: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 25 129 1.000 None 0.983 56 31 1986 2020
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Congenital Abnormality 4 70 1.000 definitive 0.972 43 44 2003 2019
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 4 4 0.900 None 0.968 0 1 2003 2020
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 12 153 0.770 moderate 1.000 24 18 2003 2019
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 11 28 0.700 None 1.000 14 11 2002 2019
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease Neoplasms Neoplastic Process 37 211 0.700 None 1.000 3 14 2002 2019
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 6 25 0.700 None 0.990 1 3 2003 2020
CUI: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7 		disease Disease or Syndrome 1 8 0.700 None 1.000 1 8 2006 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 43 100 0.700 None 0.976 0 5 2002 2020
CUI: C3150971
Disease: LEOPARD SYNDROME 3
LEOPARD SYNDROME 3 		disease Disease or Syndrome 1 5 0.700 None 1.000 0 5 2006 2013
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 3 17 0.650 limited 1.000 0 2 2009 2017
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 31 216 0.500 None 0.978 33 10 2002 2019
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 13 82 0.500 None 1.000 26 15 2002 2020
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 39 436 0.500 None 0.958 9 3 2002 2019
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group Digestive System Diseases; Neoplasms Neoplastic Process 7 124 0.500 None 1.000 6 1 2002 2019
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 13 118 0.500 None 1.000 3 3 2010 2019
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 15 76 0.500 None 0.944 1 11 2003 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 38 153 0.500 None 0.979 1 12 2003 2020
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		disease Neoplasms Neoplastic Process 4 6 0.500 strong 0.892 0 1 2003 2019
CUI: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 2 2 0.490 limited 1.000 3 1 1995 2018
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 11 51 0.470 None 0.900 3 6 2007 2019
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 5 26 0.430 None 1.000 2 1 2011 2015
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 16 96 0.430 None 0.750 1 6 2006 2016
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 7 34 0.420 None 1.000 1 2 2009 2016
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 15 33 0.420 None 1.000 0 3 2003 2017