Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796205
Disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1
SPINOCEREBELLAR ATAXIA, X-LINKED 1 		0.700 Biomarker disease GENOMICS_ENGLAND Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. 22912398 2012
CUI: C0796205
Disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1
SPINOCEREBELLAR ATAXIA, X-LINKED 1 		0.700 GeneticVariation disease UNIPROT Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. 22912398 2012
CUI: C0796205
Disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1
SPINOCEREBELLAR ATAXIA, X-LINKED 1 		0.700 Biomarker disease GENOMICS_ENGLAND Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. 22912398 2012
CUI: C0796205
Disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1
SPINOCEREBELLAR ATAXIA, X-LINKED 1 		0.700 Biomarker disease CTD_human
CUI: C0796205
Disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1
SPINOCEREBELLAR ATAXIA, X-LINKED 1 		0.700 CausalMutation disease CLINVAR
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.310 GeneticVariation group BEFREE Genomewide association studies have linked ATP2B1, the gene for the plasma membrane calcium ATPase 1 (PMCA1), to blood pressure (BP) and hypertension. 28795531 2017
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism 		0.310 GeneticVariation disease BEFREE Here, we identified a novel somatic deletion mutation in ATP2B3, which results in the amino acid sequences increasing intracellular calcium concentrations as reported previously, leading to increased aldosterone synthase (CYP11B2) expression and following excess aldosterone production in the APA cells. 26481629 2015
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome 		0.310 GeneticVariation disease BEFREE Recently, the molecular basis of primary aldosteronism has begun to be unraveled, with the discovery of mutations in potassium channel (KCNJ5), ATPases (ATP1A1, ATP2B3), and calcium channel (CACNA1D), and aberrant Wnt/β-catenin signaling. 26125435 2015
CUI: C0001430
Disease: Adenoma
Adenoma 		0.310 GeneticVariation group BEFREE Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. 23416519 2013
CUI: C0001430
Disease: Adenoma
Adenoma 		0.310 Biomarker group CTD_human Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. 23416519 2013
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism 		0.310 Biomarker disease CTD_human Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. 23416519 2013
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.310 Biomarker group CTD_human Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. 23416519 2013
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome 		0.310 Biomarker disease CTD_human Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. 23416519 2013
CUI: C0205646
Disease: Adenoma, Basal Cell
Adenoma, Basal Cell 		0.300 Biomarker disease CTD_human Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. 23416519 2013
CUI: C0205647
Disease: Follicular adenoma
Follicular adenoma 		0.300 Biomarker disease CTD_human Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. 23416519 2013
CUI: C0205648
Disease: Adenoma, Microcystic
Adenoma, Microcystic 		0.300 Biomarker disease CTD_human Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. 23416519 2013
CUI: C0205649
Disease: Adenoma, Monomorphic
Adenoma, Monomorphic 		0.300 Biomarker disease CTD_human Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. 23416519 2013
CUI: C0205650
Disease: Papillary adenoma
Papillary adenoma 		0.300 Biomarker disease CTD_human Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. 23416519 2013
CUI: C0205651
Disease: Adenoma, Trabecular
Adenoma, Trabecular 		0.300 Biomarker disease CTD_human Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. 23416519 2013
CUI: C4707849
Disease: X-linked non progressive cerebellar ataxia
X-linked non progressive cerebellar ataxia 		0.300 GermlineCausalMutation disease ORPHANET
CUI: C0040822
Disease: Tremor
Tremor 		0.200 Biomarker phenotype RGD Spontaneous shaker rat mutant - a new model for X-linked tremor/ataxia. 27013529 2016
CUI: C0004134
Disease: Ataxia
Ataxia 		0.120 GeneticVariation phenotype BEFREE Because Atp2b3 mutation leads to congenital ataxia in humans, the identified Atp2b3 missense change in the shaker rat presents a good candidate for the shaker rat phenotype based on genetic criteria, but cannot yet be considered a definite pathogenic variant owing to lack of functional changes. 27013529 2016
CUI: C0004134
Disease: Ataxia
Ataxia 		0.120 GeneticVariation phenotype BEFREE A cerebellar X-linked human ataxia has recently been found to be caused by a mutation in the calmodulin-binding domain of PMCA3. 23413890 2013
CUI: C0004134
Disease: Ataxia
Ataxia 		0.120 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.110 GeneticVariation disease BEFREE Here we report a novel PMCA3 mutation (G733R substitution) in the catalytic P-domain of the pump in a patient affected by non-progressive ataxia, muscular hypotonia, dysmetria and nystagmus. 28807751 2017