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: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
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: 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: C1455734
Disease: Congenital hypoparathyroidism
Congenital hypoparathyroidism 		disease Endocrine System Diseases Congenital Abnormality 5 1 0.110 None 1.000 1 2012 2012
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 92 15 0.400 None 1.000 13 4 2000 2017
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: 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: 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: 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: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 111 14 0.020 None 1.000 2 1 2004 2017
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: C4479229
Disease: HYPERPARATHYROIDISM 4
HYPERPARATHYROIDISM 4 		disease Disease or Syndrome 1 4 0.600 moderate 1.000 2 4 2016 2017
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 157 9 0.110 None 1.000 1 2019 2019
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 94 13 0.110 None 1.000 1 2004 2004
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: C0041948
Disease: Uremia
Uremia 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 110 2 0.010 None 1.000 1 2002 2002
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: 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: C0021364
Disease: Male infertility
Male infertility 		phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.100 None 0
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
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: 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