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: 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 0.700 0.955 101 33 1995 2018
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
disease Disease or Syndrome 248 57 0.700 0.951 100 42 1993 2018
Estren-Dameshek Variant of Fanconi Anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1 17 0.500 10 17 1998 2008
Estren-Dameshek Variant of Fanconi Pancytopenia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1 17 0.500 10 17 1998 2008
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 556 37 0.400 strong 1 2017 2017
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 1940 76 0.400 0
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 moderate 0
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 1702 215 0.330 1.000 3 2003 2004
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1216 142 0.310 1.000 2 2009 2014
Malignant neoplasm of urinary bladder
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1143 157 0.310 1.000 2 2009 2014
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 1996 1998
CUI: C0036095
Disease: Salivary Gland Neoplasms
Salivary Gland Neoplasms
group Neoplasms; Stomatognathic Diseases Neoplastic Process 81 3 0.300 1 2007 2007
CUI: C1257965
Disease: Compensatory Hyperinsulinemia
Compensatory Hyperinsulinemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 19 1 0.300 1 2014 2014
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
disease Nutritional and Metabolic Diseases Disease or Syndrome 376 33 0.300 1 2014 2014
CUI: C1257963
Disease: Endogenous Hyperinsulinism
Endogenous Hyperinsulinism
disease Nutritional and Metabolic Diseases Disease or Syndrome 18 0.300 1 2014 2014
Malignant neoplasm of salivary gland
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 68 0.300 1 2007 2007
CUI: C4025414
Disease: Radial club hand
Radial club hand
disease Congenital Abnormality 58 0.300 strong 1 1996 1996
CUI: C0158995
Disease: Congenital anemia
Congenital anemia
disease Disease or Syndrome 208 0.300 strong 1 1996 1996
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma
disease Neoplasms Neoplastic Process 207 29 0.300 1 2007 2007
CUI: C1257964
Disease: Exogenous Hyperinsulinism
Exogenous Hyperinsulinism
disease Nutritional and Metabolic Diseases Disease or Syndrome 18 0.300 1 2014 2014
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype Pathologic Function 206 0.300 strong 1 1996 1996
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
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease Congenital Abnormality 115 9 0.300 strong 0
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
disease Neoplastic Process 215 96 0.300 0
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm
disease Neoplasms Neoplastic Process 469 41 0.300 strong 0