Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832394
Disease: Deafness, Autosomal Recessive 12
Deafness, Autosomal Recessive 12 		0.500 Biomarker disease CTD_human
CUI: C4021806
Disease: Prelingual sensorineural hearing impairment
Prelingual sensorineural hearing impairment 		0.100 Biomarker disease HPO
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 Biomarker phenotype HPO
CUI: C1809471
Disease: Familial benign hypercalcemia
Familial benign hypercalcemia 		0.010 AlteredExpression disease BEFREE It has been suggested that the parathyroid glands and the kidneys are insensitive to the high extracellular calcium levels found in familial benign hypercalcaemia (FBH) (familial hypocalciuric hypercalcaemia) and that there may be a general disorder of the plasma membrane 'calcium pump'. 3160102 1985
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.010 GeneticVariation group BEFREE The PMCA2 gene is contained within this region and deletion of this gene may cause congenital heart defects. 7951234 1994
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.020 GeneticVariation disease BEFREE We have isolated and ordered yeast artificial chromosomes (YACs) and cosmids surrounding the von Hippel-Lindau (VHL) tumor suppressor and plasma membrane Ca(2+)-transporting ATPase isoform 2 (PMCA-2) genes on chromosome 3p25-26. 8162598 1994
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE We have isolated and ordered yeast artificial chromosomes (YACs) and cosmids surrounding the von Hippel-Lindau (VHL) tumor suppressor and plasma membrane Ca(2+)-transporting ATPase isoform 2 (PMCA-2) genes on chromosome 3p25-26. 8162598 1994
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.020 Biomarker disease BEFREE These results have (i) established the position of the VHL disease gene with respect to D3S601, (ii) refined the localisation of the VHL disease gene to a small region (approximately 50 kb) of chromosome 3p25-p26 and (iii) excluded the plasma membrane Ca(+)+-transporting ATPase isoform 2 (PMCA-2) gene as a candidate gene for VHL disease. 8364570 1993
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.020 GeneticVariation disease BEFREE Investigation of the Met-267 Arg exchange in isoform 1 of the human plasma membrane calcium pump in patients with essential hypertension by the amplification-created restriction site technique. 9020386 1997
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.020 Biomarker disease BEFREE Combined SSCP and heteroduplex analysis of the human plasma membrane Ca(2+)-ATPase isoform 1 in patients with essential hypertension. 10425217 1999
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.020 AlteredExpression group BEFREE Moreover, expression of PMCA (1b and 4b), SERCA3a, and rSERCA3b/3c was modulated in rat hypertension. 10642281 2000
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.070 AlteredExpression disease BEFREE Our results also indicate that breast cancer cell lines can express mRNAs for a variety PMCA isoforms. 12359307 2002
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.050 AlteredExpression disease BEFREE Our results also indicate that breast cancer cell lines can express mRNAs for a variety PMCA isoforms. 12359307 2002
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 AlteredExpression phenotype BEFREE To determine if PMCA expression is altered in tumorigenesis, we compared relative levels of PMCA1 mRNA. 12359307 2002
CUI: C0014070
Disease: Encephalomyelitis
Encephalomyelitis 		0.020 AlteredExpression disease LHGDN Temporal pattern of plasma membrane calcium ATPase 2 expression in the spinal cord correlates with the course of clinical symptoms in two rodent models of autoimmune encephalomyelitis. 15926914 2005
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.020 AlteredExpression group LHGDN Plasma membrane calcium-ATPase 2 and 4 in human breast cancer cell lines. 16216224 2005
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.010 Biomarker disease BEFREE Although other genes in this region remain candidates, we conclude that haploinsufficiency of ATP2B2 is the most likely cause of SNHL in 3p-- syndrome. 17208398 2007
CUI: C4706503
Disease: Distal monosomy 3p syndrome
Distal monosomy 3p syndrome 		0.010 Biomarker disease BEFREE Although other genes in this region remain candidates, we conclude that haploinsufficiency of ATP2B2 is the most likely cause of SNHL in 3p-- syndrome. 17208398 2007
CUI: C1832394
Disease: Deafness, Autosomal Recessive 12
Deafness, Autosomal Recessive 12 		0.500 Biomarker disease GENOMICS_ENGLAND A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness. 17234811 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.070 Biomarker disease BEFREE Recent studies associate alterations in calcium transporter expression with tumourigenesis, such as changes in specific isoforms of the plasma membrane calcium ATPase (PMCA) in breast cancer cell lines. 17321497 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.050 Biomarker disease BEFREE Recent studies associate alterations in calcium transporter expression with tumourigenesis, such as changes in specific isoforms of the plasma membrane calcium ATPase (PMCA) in breast cancer cell lines. 17321497 2007
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.020 GeneticVariation phenotype BEFREE We can also conclude that deletion of the gene ATP2B2 alone is not enough to cause hearing impairment, which is frequently found in patients with 3p deletion. 17696125 2007
CUI: C0086543
Disease: Cataract
Cataract 		0.010 AlteredExpression disease BEFREE Elevated PMCA2 expression in cataractous lenses might be a compensatory mechanism to overcome higher intracellular calcium levels in cataract. 18223301 2008
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.010 Biomarker disease BEFREE DNA analysis to examine single-nucleotide polymorphisms in 2 candidate modifier genes (ATP2B2 and Wolfram syndrome 1 [WFS1]) is summarized in this report. 18667942 2008
CUI: C0202174
Disease: blood phenylalanine measurement by Guthrie microbiologic assay
blood phenylalanine measurement by Guthrie microbiologic assay 		0.100 GeneticVariation phenotype GWASCAT Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum. 19043545 2008