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: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
disease Disease or Syndrome 5 22 0.920 strong 1.000 27 22 1994 2019
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.100 None 0.929 14 1 1996 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.100 None 1.000 12 1998 2017
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.060 None 1.000 6 2018 2019
CUI: C0201925
Disease: Calcium measurement
Calcium measurement
phenotype Laboratory Procedure 23 71 0.100 None 1.000 5 12 2010 2018
CUI: C0279068
Disease: Childhood Solid Neoplasm
Childhood Solid Neoplasm
phenotype Neoplastic Process 169 3 0.050 None 1.000 5 2017 2018
CUI: C0280099
Disease: Adult Solid Neoplasm
Adult Solid Neoplasm
group Neoplastic Process 163 3 0.050 None 1.000 5 2017 2018
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME
disease Disease or Syndrome 5 0.500 None 1.000 4 1999 2012
CUI: C0428302
Disease: Calcium level result
Calcium level result
phenotype Laboratory or Test Result 14 51 0.100 None 1.000 3 10 2010 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 3 2 2010 2017
Refractory Acute Lymphoblastic Leukemia
disease Neoplastic Process 14 0.030 None 1.000 3 2017 2019
CUI: C0391957
Disease: idiopathic epilepsy
idiopathic epilepsy
disease Disease or Syndrome 30 3 0.020 None 1.000 2 2008 2010
CUI: C0745106
Disease: hyperparathyroid
hyperparathyroid
disease Disease or Syndrome 14 0.020 None 1.000 2 2006 2017
CUI: C1658953
Disease: tumor vasculature
tumor vasculature
phenotype Neoplastic Process 200 0.020 None 1.000 2 2010 2019
CUI: C4048329
Disease: Immunosuppression
Immunosuppression
disease Disease or Syndrome 632 9 0.020 None 1.000 2 2014 2017
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
disease Neoplastic Process 573 14 0.010 None 1.000 1 2018 2018
Squamous cell carcinoma of the hypopharynx
disease Neoplastic Process 103 3 0.010 None 1.000 1 2018 2018
CUI: C0332853
Disease: Anastomosis
Anastomosis
disease Acquired Abnormality 155 2 0.010 None 1.000 1 2017 2017
CUI: C0345288
Disease: Liver hyperplasia
Liver hyperplasia
disease Congenital Abnormality 10 0.010 None 1.000 1 2013 2013
Secondary malignant neoplasm of peritoneum
disease Neoplastic Process 58 2 0.010 None 1.000 1 2016 2016
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2017 2017
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease
phenotype Neoplastic Process 384 40 0.010 None 1.000 1 2017 2017
CUI: C0851887
Disease: Adenoviral infections
Adenoviral infections
group Disease or Syndrome 78 1 0.010 None 1.000 1 2016 2016
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease Disease or Syndrome 55 28 0.010 None 1.000 1 2013 2013
CUI: C0853277
Disease: Pseudo-Bartter syndrome
Pseudo-Bartter syndrome
disease Disease or Syndrome 2 2 0.010 None 1.000 1 2017 2017