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: C0740651
Disease: Abdominal symptom
Abdominal symptom
phenotype Sign or Symptom 17 3 0.100 None 0
CUI: C0001430
Disease: Adenoma
Adenoma
group Neoplasms Neoplastic Process 1183 103 0.030 None 1.000 3 3 2002 2004
CUI: C1305409
Disease: Atypical adenoma
Atypical adenoma
disease Neoplasms Neoplastic Process 5 1 0.010 None 1.000 1 1 2017 2017
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 17 9 0.010 None 1.000 1 2015 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2018 2018
Calcium pyrophosphate deposition disease
disease Musculoskeletal Diseases Disease or Syndrome 34 5 0.100 None 0
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.040 None 1.000 4 1 2002 2017
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification
phenotype Nutritional and Metabolic Diseases; Nervous System Diseases Finding 103 8 0.100 None 0
Congenital absence of parathyroid gland
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 4 0.400 None 1.000 1 2001 2001
CUI: C0392485
Disease: Congenital diverticulum of pharynx
Congenital diverticulum of pharynx
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 10 0.010 None < 0.001 1 2019 2019
CUI: C1455734
Disease: Congenital hypoparathyroidism
Congenital hypoparathyroidism
disease Endocrine System Diseases Congenital Abnormality 5 1 0.110 None 1.000 1 2012 2012
Decreased circulating parathyroid hormone level
phenotype Finding 4 0.100 None 0
Elevated circulating parathyroid hormone level
phenotype Finding 18 1 0.100 None 0
Familial Isolated Hyperparathyroidism
disease Endocrine System Diseases Disease or Syndrome 10 4 0.340 None 1.000 4 2016 2020
CUI: C4551680
Disease: Generalized osteoporosis
Generalized osteoporosis
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 13 0.100 None 0
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 157 9 0.110 None 1.000 1 2019 2019
CUI: C0475732
Disease: Hypercalcemia, Infantile
Hypercalcemia, Infantile
phenotype Nutritional and Metabolic Diseases Finding 5 0.100 None 0
CUI: C0020438
Disease: Hypercalciuria
Hypercalciuria
phenotype Pathological Conditions, Signs and Symptoms Finding 60 5 0.100 None 0
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism
disease Endocrine System Diseases Disease or Syndrome 111 14 0.020 None 1.000 2 1 2004 2017
CUI: C4479229
Disease: HYPERPARATHYROIDISM 4
HYPERPARATHYROIDISM 4
disease Disease or Syndrome 1 4 0.600 moderate 1.000 2 4 2016 2017
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
disease Endocrine System Diseases Disease or Syndrome 115 39 0.150 None 0.600 5 1 2002 2019
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder)
disease Nutritional and Metabolic Diseases Disease or Syndrome 65 1 0.100 None 0
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 94 13 0.110 None 1.000 1 2004 2004
CUI: C1855841
Disease: Hypocalcemic seizures
Hypocalcemic seizures
disease Nutritional and Metabolic Diseases Disease or Syndrome 11 0.100 None 0