Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.400 Biomarker phenotype CTD_human Hypercalcemia, hypercalciuria, and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: effects of ketoconazole therapy. 22337913 2012
Entrez Id: 6569
Gene Symbol: SLC34A1
SLC34A1 		0.400 Biomarker phenotype CTD_human Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities. 9560283 1998
Entrez Id: 6569
Gene Symbol: SLC34A1
SLC34A1 		0.400 Biomarker phenotype HPO
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.400 Biomarker phenotype HPO
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.310 Biomarker phenotype RGD Effect of silencing VDR gene in kidney on renal epithelial calcium transporter proteins and urinary calcium excretion in genetic hypercalciuric stone-forming rats. 22137721 2011
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.310 GeneticVariation phenotype LHGDN R990G polymorphism of calcium-sensing receptor does produce a gain-of-function and predispose to primary hypercalciuria. 17332735 2007
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.310 Biomarker phenotype HPO
Entrez Id: 5741
Gene Symbol: PTH
PTH 		0.300 Biomarker phenotype CTD_human Elevations in serum and urinary calcium with parathyroid hormone (1-84) with and without alendronate for osteoporosis. 17164314 2007
Entrez Id: 5443
Gene Symbol: POMC
POMC 		0.300 Biomarker phenotype CTD_human Thiazide therapy for ACTH-induced hypercalciuria and nephrolithiasis. 1324751 1992
Entrez Id: 5443
Gene Symbol: POMC
POMC 		0.300 Biomarker phenotype CTD_human Disturbed calcium and phosphate homeostasis during treatment with ACTH of infantile spasms. 3017235 1986
Entrez Id: 7421
Gene Symbol: VDR
VDR 		0.200 Biomarker phenotype RGD Elevated vitamin D receptor levels in genetic hypercalciuric stone-forming rats are associated with downregulation of Snail. 19929616 2010
Entrez Id: 142680
Gene Symbol: SLC34A3
SLC34A3 		0.110 GeneticVariation phenotype LHGDN A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc. 18480181 2008
Entrez Id: 10686
Gene Symbol: CLDN16
CLDN16 		0.110 GeneticVariation phenotype LHGDN CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis. 18003771 2008
Entrez Id: 10686
Gene Symbol: CLDN16
CLDN16 		0.110 CausalMutation phenotype CLINVAR
Entrez Id: 10686
Gene Symbol: CLDN16
CLDN16 		0.110 Biomarker phenotype HPO
Entrez Id: 142680
Gene Symbol: SLC34A3
SLC34A3 		0.110 Biomarker phenotype HPO
Entrez Id: 84617
Gene Symbol: TUBB6
TUBB6 		0.100 CausalMutation phenotype CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		0.100 CausalMutation phenotype CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Entrez Id: 4513
Gene Symbol: COX2
COX2 		0.100 Biomarker phenotype HPO
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		0.100 Biomarker phenotype HPO
Entrez Id: 4952
Gene Symbol: OCRL
OCRL 		0.100 Biomarker phenotype HPO
Entrez Id: 4572
Gene Symbol: TRNQ
TRNQ 		0.100 Biomarker phenotype HPO
Entrez Id: 9247
Gene Symbol: GCM2
GCM2 		0.100 Biomarker phenotype HPO
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		0.100 Biomarker phenotype HPO
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		0.100 Biomarker phenotype HPO