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: C4722327
Disease: PROSTATE CANCER, HEREDITARY, 1
PROSTATE CANCER, HEREDITARY, 1
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 62 2 0.300 None 1.000 1 2018 2018
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.300 None 0
Noonan-Like Syndrome With Loose Anagen Hair
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 22 4 0.300 0
Neoplasm of uncertain or unknown behavior of ovary
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 29 0.300 None 0
Noonan syndrome-like disorder with loose anagen hair
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 19 3 0.300 0
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 539 19 0.300 None 0
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.200 None 0.927 41 8 1996 2019
CUI: C0023904
Disease: Liver Neoplasms, Experimental
Liver Neoplasms, Experimental
phenotype Digestive System Diseases; Neoplasms Neoplastic Process; Experimental Model of Disease 152 0.200 None 1.000 1 2004 2004
CUI: C0029531
Disease: Other cataract
Other cataract
disease Eye Diseases Disease or Syndrome 32 0.200 None 1.000 1 2001 2001
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
disease Disease or Syndrome 14 0.200 None 0
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2084 288 0.150 None 1.000 6 1 2006 2017
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.130 None 1.000 4 1 2002 2018
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.120 None 1.000 3 4 2005 2016
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 560 635 0.120 None 1.000 2 1 2012 2019
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 462 79 0.110 None 1.000 2 2 2016 2018
Squamous cell carcinoma of the head and neck
disease Neoplasms Neoplastic Process 1543 348 0.110 None 1.000 2 2 2016 2019
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.110 None 1.000 1 2017 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.110 None 1.000 1 2005 2005
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.110 None 1.000 1 2017 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.100 None 0.960 25 1 2002 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.100 None 0.938 16 2008 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.100 None 0.938 16 2008 2020
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
Histiocytosis, Langerhans-Cell
disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Neoplastic Process 104 12 0.100 None 1.000 13 2014 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 12 2 2002 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.100 None 1.000 11 2003 2020