Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3160814
Disease: Cannabis use
Cannabis use
0.100 GeneticVariation disease GWASCAT Genome-wide association meta-analysis of age at first cannabis use. 30003630 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.100 GeneticVariation disease GWASCAT Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease. 23144326 2012
CUI: C3536958
Disease: Surfactant protein D measurement
Surfactant protein D measurement
0.100 GeneticVariation phenotype GWASCAT Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease. 23144326 2012
Attention deficit hyperactivity disorder
0.100 GeneticVariation disease GWASDB Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. 18839057 2008
Attention deficit hyperactivity disorder
0.100 GeneticVariation disease GWASCAT Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. 18839057 2008
CUI: C0023015
Disease: Language Disorders
Language Disorders
0.040 GeneticVariation group BEFREE There were associations with LI risk gene ATP2C2 and dyslexia risk gene MRPL19. 25448322 2015
CUI: C0023015
Disease: Language Disorders
Language Disorders
0.040 Biomarker group BEFREE For example, rare protein-coding mutations of the FOXP2 transcription factor cause severe problems with sequencing of speech sounds, while common genetic risk variants of small effect size in genes like CNTNAP2, ATP2C2 and CMIP are associated with typical forms of language impairment. 23228431 2013
CUI: C0023015
Disease: Language Disorders
Language Disorders
0.040 GeneticVariation group BEFREE We have analyzed common risk variants within RD (MRPL19/C2ORF3, KIAA0319, and DCDC2) and language impairment (CMIP and ATP2C2) candidate loci in the Avon Longitudinal Study of Parents and Children cohort (n = 3725), representing children born in southwest England in the early 1990s. 21457949 2011
CUI: C0023015
Disease: Language Disorders
Language Disorders
0.040 GeneticVariation group BEFREE We therefore propose that variants in CMIP and ATP2C2 act to modulate phonological short-term memory primarily in the context of language impairment. 19646677 2009
CUI: C0454651
Disease: Specific language impairment
Specific language impairment
0.020 Biomarker disease BEFREE ATP2C2 is a known candidate gene for specific language impairment and is postulated to have neurobiological significance in memory-related circuits. 25296922 2015
CUI: C0476254
Disease: Dyslexia
Dyslexia
0.020 GeneticVariation disease BEFREE There were associations with LI risk gene ATP2C2 and dyslexia risk gene MRPL19. 25448322 2015
CUI: C0476254
Disease: Dyslexia
Dyslexia
0.020 Biomarker disease BEFREE In this study we investigate the role of variants in these genes (namely MRPL19/C20RF3, ROBO1, DCDC2, KIAA0319, DYX1C1, CNTNAP2, ATP2C2 and CMIP) in the aetiology of SLI and dyslexia. 21165691 2011
CUI: C0454651
Disease: Specific language impairment
Specific language impairment
0.020 Biomarker disease BEFREE This work therefore implicates CMIP and ATP2C2 in the etiology of SLI and provides molecular evidence for the importance of phonological short-term memory in language acquisition. 19646677 2009
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 Biomarker phenotype BEFREE Based on these findings, we propose that SPCA2 functions as a key regulator of EMT and may be a potential therapeutic target for treatment of metastatic cancer. 31076498 2019
CUI: C0346957
Disease: Disseminated Malignant Neoplasm
Disseminated Malignant Neoplasm
0.010 Biomarker phenotype BEFREE Based on these findings, we propose that SPCA2 functions as a key regulator of EMT and may be a potential therapeutic target for treatment of metastatic cancer. 31076498 2019
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.010 Biomarker group BEFREE We show that E-cadherin is tightly coexpressed with the secretory pathway Ca<sup>2+</sup>-ATPase isoform 2, SPCA2 (<i>ATP2C2</i>), in breast tumors. 31076498 2019
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
0.010 Biomarker group BEFREE Based on these findings, we propose that SPCA2 functions as a key regulator of EMT and may be a potential therapeutic target for treatment of metastatic cancer. 31076498 2019
CUI: C0038586
Disease: Substance Use Disorders
Substance Use Disorders
0.010 Biomarker group BEFREE The significant association between age of initiation and ATP2C2 is consistent with the role of calcium signalling mechanisms in substance use disorders. 30003630 2018
CUI: C0600427
Disease: Cocaine Dependence
Cocaine Dependence
0.010 Biomarker disease BEFREE Although the five SNPs and ATP2C2 did not replicate, ATP2C2 has been associated with cocaine dependence in a previous study. 30003630 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 Biomarker disease BEFREE Dysregulation of the Golgi/Secretory Pathway Ca<sup>2+</sup> transport ATPase SPCA2 is implicated in breast cancer. 27692665 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 Biomarker disease BEFREE Dysregulation of the Golgi/Secretory Pathway Ca<sup>2+</sup> transport ATPase SPCA2 is implicated in breast cancer. 27692665 2017
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.010 AlteredExpression disease BEFREE RNA analysis indicates that the decreased Atp2c2c expression observed early in experimental pancreatitis reflects a global molecular response of acinar cells to reduce cytosolic Ca(2+) levels. 27017909 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 Biomarker phenotype BEFREE Our findings reveal a signaling pathway in which the Orai1-SPCA2 complex elicits constitutive store-independent Ca(2+) signaling that promotes tumorigenesis. 20887894 2010