CALR3, calreticulin 3, 125972

N. diseases: 6; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.300 Biomarker disease CLINGEN Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. 17655857 2007
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.100 CausalMutation disease CLINVAR
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.010 Biomarker disease BEFREE CRT 2 months post-treatment was higher among subjects who developed vitiligo (<i>p</i>-value = 0.02). 31577462 2019
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		0.010 Biomarker disease BEFREE CRT 2 months post-treatment was higher among subjects who developed vitiligo (<i>p</i>-value = 0.02). 31577462 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 GeneticVariation group BEFREE In our national cardiomyopathy cohort (n = 6154), we identified 17 unique, rare heterozygous CALR3 variants in 48 probands. 29988065 2018
CUI: C0086543
Disease: Cataract
Cataract 		0.010 Biomarker disease BEFREE Here, we identified a second creatine transporter (CRT2) known as monocarboxylate transporter 12 (MCT12), encoded by the cataract and glucosuria associated gene SLC16A12. 23578822 2013