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: C4479229
Disease: HYPERPARATHYROIDISM 4
HYPERPARATHYROIDISM 4 		disease Disease or Syndrome 1 4 0.600 moderate 1.000 2 4 2016 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
CUI: C1840334
Disease: Hypoparathyroidism, Autosomal Recessive
Hypoparathyroidism, Autosomal Recessive 		disease Endocrine System Diseases Disease or Syndrome 3 0.020 None 1.000 2 2010 2017
CUI: C1321907
Disease: Congenital absence of parathyroid gland
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: C0729198
Disease: Decreased circulating parathyroid hormone level
Decreased circulating parathyroid hormone level 		phenotype Finding 4 0.100 None 0
CUI: C1305409
Disease: Atypical adenoma
Atypical adenoma 		disease Neoplasms Neoplastic Process 5 1 0.010 None 1.000 1 1 2017 2017
CUI: C1455734
Disease: Congenital hypoparathyroidism
Congenital hypoparathyroidism 		disease Endocrine System Diseases Congenital Abnormality 5 1 0.110 None 1.000 1 2012 2012
CUI: C0475732
Disease: Hypercalcemia, Infantile
Hypercalcemia, Infantile 		phenotype Nutritional and Metabolic Diseases Finding 5 0.100 None 0
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		disease Endocrine System Diseases Disease or Syndrome 8 8 0.720 None 0.857 7 6 2005 2017
CUI: C4551961
Disease: Familial Isolated Hyperparathyroidism
Familial Isolated Hyperparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 10 4 0.340 None 1.000 4 2016 2020
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: C1855841
Disease: Hypocalcemic seizures
Hypocalcemic seizures 		disease Nutritional and Metabolic Diseases Disease or Syndrome 11 0.100 None 0
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
Hypoparathyroidism - autosomal dominant 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 12 44 0.030 None 0.333 3 1 2009 2014
CUI: C4551680
Disease: Generalized osteoporosis
Generalized osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 13 0.100 None 0
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: C0740651
Disease: Abdominal symptom
Abdominal symptom 		phenotype Sign or Symptom 17 3 0.100 None 0
CUI: C0857973
Disease: Elevated circulating parathyroid hormone level
Elevated circulating parathyroid hormone level 		phenotype Finding 18 1 0.100 None 0
CUI: C4552839
Disease: Hypomagnesemia, CTCAE
Hypomagnesemia, CTCAE 		phenotype Finding 21 0.100 None 0
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: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases 		group Endocrine System Diseases Disease or Syndrome 26 4 0.010 None 1.000 1 2018 2018
CUI: C0553730
Disease: Calcium pyrophosphate deposition disease
Calcium pyrophosphate deposition disease 		disease Musculoskeletal Diseases Disease or Syndrome 34 5 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
CUI: C0151723
Disease: Hypomagnesemia
Hypomagnesemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 58 11 0.100 None 0
CUI: C0020438
Disease: Hypercalciuria
Hypercalciuria 		phenotype Pathological Conditions, Signs and Symptoms Finding 60 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