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: C4025604
Disease: Parathormone-independent increased renal tubular calcium reabsorption
Parathormone-independent increased renal tubular calcium reabsorption 		phenotype Finding 2 0.100 None 0
CUI: C1833372
Disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III 		disease Nutritional and Metabolic Diseases Disease or Syndrome 5 2 0.700 None 1.000 4 2 2013 2016
CUI: C3875492
Disease: Hypocalciuric hypercalcemia
Hypocalciuric hypercalcemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C0271846
Disease: Familial hyperparathyroidism
Familial hyperparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 7 1 0.020 None 1.000 2 2014 2017
CUI: C1522135
Disease: Hypermagnesemia result
Hypermagnesemia result 		phenotype Finding 7 1 0.100 None 0
CUI: C4554647
Disease: Hypermagnesemia, CTCAE
Hypermagnesemia, CTCAE 		phenotype Finding 7 0.100 None 0
CUI: C0151714
Disease: Hypermagnesemia
Hypermagnesemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 10 0.100 None 0
CUI: C0745106
Disease: hyperparathyroid
hyperparathyroid 		disease Disease or Syndrome 14 0.010 None 1.000 1 2017 2017
CUI: C0020599
Disease: Hypocalciuria
Hypocalciuria 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 16 4 0.110 None 1.000 1 2013 2013
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis 		disease Digestive System Diseases Disease or Syndrome 18 7 0.010 None 1.000 1 2019 2019
CUI: C1809471
Disease: Familial benign hypercalcemia
Familial benign hypercalcemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 24 35 0.080 None 0.875 8 2013 2017
CUI: C4048195
Disease: Autosomal dominant hypocalcemia
Autosomal dominant hypocalcemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 29 9 0.010 None 1.000 1 2014 2014
CUI: C0553730
Disease: Calcium pyrophosphate deposition disease
Calcium pyrophosphate deposition disease 		disease Musculoskeletal Diseases Disease or Syndrome 34 5 0.100 None 0
CUI: C0745730
Disease: Multiple lipomata
Multiple lipomata 		disease Neoplasms Neoplastic Process 38 0.100 None 0
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		disease Nutritional and Metabolic Diseases Disease or Syndrome 46 58 0.400 strong 0.909 11 1 2013 2017
CUI: C3887650
Disease: Adult Rickets
Adult Rickets 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 47 0.100 None 0
CUI: C1963077
Disease: Bone Pain, CTCAE 3.0
Bone Pain, CTCAE 3.0 		phenotype Finding 67 0.100 None 0
CUI: C4554063
Disease: Bone Pain, CTCAE 5.0
Bone Pain, CTCAE 5.0 		phenotype Finding 67 0.100 None 0
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 69 5 0.100 None 0
CUI: C0004930
Disease: Behavior Disorders
Behavior Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 77 4 0.010 None 1.000 1 2017 2017
CUI: C1332347
Disease: Atypical Ductal Breast Hyperplasia
Atypical Ductal Breast Hyperplasia 		disease Neoplasms Neoplastic Process 80 17 0.010 None 1.000 1 2014 2014
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 92 15 0.010 None 1.000 1 2014 2014
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 103 5 0.010 None 1.000 1 2017 2017
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 111 14 0.020 None 1.000 2 2015 2017
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		disease Endocrine System Diseases Disease or Syndrome 115 39 0.120 None 1.000 2 2014 2017