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: C0406810
Disease: Carney Complex
Carney Complex
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Disease or Syndrome 82 27 1.000 definitive 0.961 128 25 2000 2020
CUI: C2607929
Disease: Carney Complex, Type 1
Carney Complex, Type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Disease or Syndrome 1 19 0.900 definitive 1.000 18 19 2000 2016
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (disorder)
disease Endocrine System Diseases Disease or Syndrome 1 3 0.800 strong 1.000 2 3 2000 2002
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 31 6 0.700 strong 1.000 16 1 2011 2019
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 6 0.700 strong 1.000 8 6 2011 2016
CUI: C2931787
Disease: Intracardiac myxoma
Intracardiac myxoma
disease Neoplasms; Cardiovascular Diseases Neoplastic Process 1 2 0.600 strong 0 2
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
disease Neoplasms Neoplastic Process 651 21 0.520 None 1.000 2 2007 2010
CUI: C1854540
Disease: Carney Complex, Type 2
Carney Complex, Type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Disease or Syndrome 1 0.500 None 1.000 4 2004 2016
CUI: C1850635
Disease: Atrial myxoma, familial
Atrial myxoma, familial
disease Neoplasms; Cardiovascular Diseases Neoplastic Process 1 0.500 None 1.000 1 2000 2000
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.460 None 1.000 7 2006 2019
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 0.450 None 1.000 5 2002 2019
Primary pigmented nodular adrenocortical disease
disease Disease or Syndrome 22 1 0.400 None 1.000 30 1 2002 2016
CUI: C0010481
Disease: Cushing Syndrome
Cushing Syndrome
disease Endocrine System Diseases Disease or Syndrome 126 9 0.400 None 0.895 19 2002 2018
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 87 36 0.400 None 1.000 1 2004 2004
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
disease Neoplasms; Endocrine System Diseases Neoplastic Process 949 103 0.350 None 1.000 5 2002 2019
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1164 135 0.350 None 1.000 5 2002 2019
CUI: C0027149
Disease: Myxoma
Myxoma
disease Neoplasms Neoplastic Process 51 0.340 None 1.000 4 2003 2019
Malignant neoplasm of adrenal cortex
disease Neoplasms; Endocrine System Diseases Neoplastic Process 60 1 0.330 None 1.000 3 2005 2012
CUI: C1855520
Disease: Hyperglycemia, Postprandial
Hyperglycemia, Postprandial
phenotype Nutritional and Metabolic Diseases Finding 37 0.300 None 1.000 1 2018 2018
CUI: C0263477
Disease: Female pattern alopecia (disorder)
Female pattern alopecia (disorder)
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 15 0.300 None 1.000 1 2018 2018
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 10 0.300 None 1.000 1 2016 2016
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.300 None 1.000 1 2018 2018
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 23 15 0.300 None 1.000 1 2004 2004
CUI: C0270948
Disease: Neurogenic Muscular Atrophy
Neurogenic Muscular Atrophy
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 15 0.300 None 1.000 1 2018 2018
CUI: C4721502
Disease: Peripheral dysostosis
Peripheral dysostosis
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 0.300 None 1.000 1 2016 2016