CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
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: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		disease Nutritional and Metabolic Diseases Disease or Syndrome 46 58 1.000 None 0.993 145 44 1976 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.100 None 0.976 125 3 2003 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.990 103 4 1997 2020
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 0.700 None 0.989 88 34 1991 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.100 None 0.986 73 3 2003 2020
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 157 9 0.500 None 0.955 67 6 1976 2020
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		phenotype Neoplasms Neoplastic Process 1145 24 0.100 None 1.000 54 2002 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 0.190 None 0.981 53 43 1991 2016
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 0.700 None 1.000 51 5 1995 2019
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 827 60 0.100 None 0.977 43 2002 2020
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		disease Endocrine System Diseases Disease or Syndrome 115 39 0.200 None 0.941 34 5 2001 2019
CUI: C1332347
Disease: Atypical Ductal Breast Hyperplasia
Atypical Ductal Breast Hyperplasia 		disease Neoplasms Neoplastic Process 80 17 0.100 None 1.000 33 7 1996 2019
CUI: C0948245
Disease: Cytokine Release Syndrome
Cytokine Release Syndrome 		disease Pathological Conditions, Signs and Symptoms; Chemically-Induced Disorders Disease or Syndrome 29 0.100 None 1.000 32 2016 2020
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 111 14 0.700 None 0.966 29 6 1996 2019
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 92 15 0.500 None 0.917 24 3 1995 2019
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 94 13 0.500 None 1.000 24 4 1994 2019
CUI: C0020503
Disease: Hyperparathyroidism, Secondary
Hyperparathyroidism, Secondary 		disease Endocrine System Diseases Disease or Syndrome 68 4 0.100 None 0.952 21 2 2000 2020
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 190 71 0.200 None 0.952 21 8 2000 2019
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 242 99 0.200 None 0.952 21 7 2000 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.100 None 0.950 20 1 1996 2019
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.100 None 1.000 18 2016 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.100 None 0.882 17 3 2000 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.100 None 0.882 17 3 2000 2019
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 488 90 0.100 None 1.000 16 2018 2019
CUI: C1292769
Disease: Precursor B-cell lymphoblastic leukemia
Precursor B-cell lymphoblastic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 478 23 0.100 None 1.000 16 2010 2019