Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 476
Gene Symbol: ATP1A1
ATP1A1 		0.420 Biomarker phenotype HPO
Entrez Id: 10686
Gene Symbol: CLDN16
CLDN16 		0.200 CausalMutation phenotype CLINVAR
Entrez Id: 10686
Gene Symbol: CLDN16
CLDN16 		0.200 Biomarker phenotype HPO
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3 		0.200 Biomarker phenotype HPO
Entrez Id: 140803
Gene Symbol: TRPM6
TRPM6 		0.180 Biomarker phenotype HPO
Entrez Id: 149461
Gene Symbol: CLDN19
CLDN19 		0.170 CausalMutation phenotype CLINVAR
Entrez Id: 486
Gene Symbol: FXYD2
FXYD2 		0.170 Biomarker phenotype HPO
Entrez Id: 149461
Gene Symbol: CLDN19
CLDN19 		0.170 Biomarker phenotype HPO
Entrez Id: 1950
Gene Symbol: EGF
EGF 		0.140 Biomarker phenotype HPO
Entrez Id: 54805
Gene Symbol: CNNM2
CNNM2 		0.140 Biomarker phenotype HPO
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.120 Biomarker phenotype HPO
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB 		0.110 Biomarker phenotype HPO
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		0.110 Biomarker phenotype HPO
Entrez Id: 100134444
Gene Symbol: KCNJ18
KCNJ18 		0.100 Biomarker phenotype HPO
Entrez Id: 9247
Gene Symbol: GCM2
GCM2 		0.100 Biomarker phenotype HPO
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S 		0.100 Biomarker phenotype HPO
Entrez Id: 54938
Gene Symbol: SARS2
SARS2 		0.100 Biomarker phenotype HPO
Entrez Id: 6905
Gene Symbol: TBCE
TBCE 		0.100 Biomarker phenotype HPO
Entrez Id: 83483
Gene Symbol: PLVAP
PLVAP 		0.100 Biomarker phenotype HPO
Entrez Id: 2556
Gene Symbol: GABRA3
GABRA3 		0.100 Biomarker phenotype HPO
Entrez Id: 6557
Gene Symbol: SLC12A1
SLC12A1 		0.100 Biomarker phenotype HPO
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3 		0.100 Biomarker phenotype HPO
Entrez Id: 2767
Gene Symbol: GNA11
GNA11 		0.100 Biomarker phenotype HPO
Entrez Id: 5741
Gene Symbol: PTH
PTH 		0.060 Biomarker phenotype BEFREE We think that this patient demonstrates that hypomagnesemia can mask the laboratory presentation of pseudohypoparathyroidism by suppressing secretion of parathormone and further demonstrates that in pseudohypoparathyroidism the parathyroid gland retains its physiologic response to hypomagnesemia. 3223496 1988
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3 		0.200 GeneticVariation phenotype BEFREE Finally, mutations of the thiazide-sensitive sodium-chloride cotransporter (NCCT) are associated with Gitelman's syndrome, in which hypocalciuria and hypomagnesaemia are notable features. 9690036 1998