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: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis
disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 118 20 0.100 None 0
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.100 None 0
Calcium pyrophosphate deposition disease
disease Musculoskeletal Diseases Disease or Syndrome 34 5 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0 1
CUI: C0039621
Disease: Tetany
Tetany
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases Finding 24 1 0.100 None 0
CUI: C0475732
Disease: Hypercalcemia, Infantile
Hypercalcemia, Infantile
phenotype Nutritional and Metabolic Diseases Finding 5 0.100 None 0
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder)
disease Nutritional and Metabolic Diseases Disease or Syndrome 65 1 0.100 None 0
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 69 5 0.100 None 0
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0151723
Disease: Hypomagnesemia
Hypomagnesemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 58 11 0.100 None 0
CUI: C0282201
Disease: Phosphate Diabetes
Phosphate Diabetes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 51 0.100 None 0
Decreased circulating parathyroid hormone level
phenotype Finding 4 0.100 None 0
CUI: C0740651
Disease: Abdominal symptom
Abdominal symptom
phenotype Sign or Symptom 17 3 0.100 None 0
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.100 None 0
CUI: C0020438
Disease: Hypercalciuria
Hypercalciuria
phenotype Pathological Conditions, Signs and Symptoms Finding 60 5 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
CUI: C1855841
Disease: Hypocalcemic seizures
Hypocalcemic seizures
disease Nutritional and Metabolic Diseases Disease or Syndrome 11 0.100 None 0
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.100 None 0
CUI: C4552839
Disease: Hypomagnesemia, CTCAE
Hypomagnesemia, CTCAE
phenotype Finding 21 0.100 None 0
CUI: C4551680
Disease: Generalized osteoporosis
Generalized osteoporosis
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 13 0.100 None 0
Elevated circulating parathyroid hormone level
phenotype Finding 18 1 0.100 None 0
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism
disease Endocrine System Diseases Disease or Syndrome 92 15 0.400 None 1.000 13 4 2000 2017
CUI: C0342344
Disease: Hypoparathyroidism - X-linked
Hypoparathyroidism - X-linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2001 2001
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: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
disease Endocrine System Diseases Disease or Syndrome 115 39 0.150 None 0.600 5 1 2002 2019