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.
Hypoparathyroidism familial isolated
disease Endocrine System Diseases Disease or Syndrome 8 8 0.610 < 0.001 6 5 2005 2017
CUI: C4479229
Disease: HYPERPARATHYROIDISM 4
HYPERPARATHYROIDISM 4
disease Disease or Syndrome 1 4 0.500 1 4 2017 2017
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism
disease Endocrine System Diseases Disease or Syndrome 44 2 0.400 1.000 12 1 2000 2013
Congenital absence of parathyroid gland
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 4 0.400 0
Hypoparathyroidism - autosomal dominant
disease Endocrine System Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 13 33 0.340 0.500 7 4 2005 2015
Hypoparathyroidism, Autosomal Recessive
disease Endocrine System Diseases Disease or Syndrome 2 6 0.320 1.000 6 4 2005 2017
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
HYPERPARATHYROIDISM 1
disease Endocrine System Diseases Disease or Syndrome 11 8 0.310 1.000 1 2018 2018
CUI: C0342344
Disease: Hypoparathyroidism - X-linked
Hypoparathyroidism - X-linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 1 0.300 0
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 55 14 0.300 limited 0
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
disease Endocrine System Diseases Disease or Syndrome 52 17 0.150 1.000 5 1 2002 2015
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma
disease Endocrine System Diseases; Neoplasms Neoplastic Process 76 8 0.130 0.667 3 2002 2011
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 51 7 0.110 1.000 1 2005 2005
CUI: C1455734
Disease: Congenital hypoparathyroidism
Congenital hypoparathyroidism
disease Congenital Abnormality 3 0.110 1.000 1 2013 2013
Urine phosphorous concentration above normal
phenotype Laboratory or Test Result 31 0.100 0
CUI: C4280679
Disease: Increased calcium level in kidney
Increased calcium level in kidney
phenotype Finding 36 0.100 0
CUI: C1855841
Disease: Hypocalcemic seizures
Hypocalcemic seizures
disease Disease or Syndrome 6 0.100 0
CUI: C1510497
Disease: Lens Opacities
Lens Opacities
phenotype Eye Diseases Finding 338 0.100 0
CUI: C0475732
Disease: Hypercalcemia, Infantile
Hypercalcemia, Infantile
phenotype Nutritional and Metabolic Diseases Finding 5 1 0.100 0
CUI: C0553706
Disease: High blood phosphate levels
High blood phosphate levels
phenotype Finding 16 0.100 0
Calcium pyrophosphate deposition disease
disease Musculoskeletal Diseases Disease or Syndrome 26 4 0.100 0
Generalized osteoporosis with pathologic fractures
disease Disease or Syndrome 9 0.100 0
Elevated circulating parathyroid hormone level
phenotype Finding 17 0.100 0
CUI: C0747078
Disease: Generalized osteopenia
Generalized osteopenia
disease Disease or Syndrome 144 3 0.100 0
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification
phenotype Finding 59 1 0.100 0
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.100 0