Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.100 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C4316899
Disease: Cystinosis
Cystinosis
0.020 Biomarker disease BEFREE Finally, PQLC2 transports a lysine-like mixed disulfide that serves as a chemical intermediate in cysteamine therapy of cystinosis, and PQLC2 gene silencing trapped this intermediate in cystinotic cells. 23169667 2012
CUI: C4316899
Disease: Cystinosis
Cystinosis
0.020 AlteredExpression disease BEFREE In mutants of ctns-1 (C. elegans homolog of CTNS), LAAT-1 was required to reduce lysosomal cystine levels and suppress lysosome enlargement by cysteamine, a drug that alleviates cystinosis by converting cystine to a lysine analog. 22822152 2012
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 AlteredExpression disease BEFREE Both PQLC2 mRNA and protein were overexpressed in GC tissues, especially of the diffuse type. 30729615 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 Biomarker group BEFREE Conversely, PQLC2 knockdown caused growth arrest and cell death of cancer cells and suppressed tumor growth in a mouse xenograft model. 30729615 2019
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 AlteredExpression disease BEFREE Both PQLC2 mRNA and protein were overexpressed in GC tissues, especially of the diffuse type. 30729615 2019
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.010 Biomarker disease BEFREE We have showed that three traditional internal reference genes, β-actin, GAPDH and α-tubulin, are not suitable for studying gene transcription in colon cancer cells treated with aspirin, and we have identified and validated TMEM208 and PQLC2 as the ideal internal reference genes for detecting the molecular targets of aspirin in colon cancer in vitro and in vivo. 28184026 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 AlteredExpression disease BEFREE Identification of TMEM208 and PQLC2 as reference genes for normalizing mRNA expression in colorectal cancer treated with aspirin. 28184026 2017
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 Biomarker disease BEFREE We have showed that three traditional internal reference genes, β-actin, GAPDH and α-tubulin, are not suitable for studying gene transcription in colon cancer cells treated with aspirin, and we have identified and validated TMEM208 and PQLC2 as the ideal internal reference genes for detecting the molecular targets of aspirin in colon cancer in vitro and in vivo. 28184026 2017
Malignant neoplasm of colon and/or rectum
0.010 AlteredExpression disease BEFREE Identification of TMEM208 and PQLC2 as reference genes for normalizing mRNA expression in colorectal cancer treated with aspirin. 28184026 2017
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases
0.010 Biomarker group BEFREE Thus, LAAT-1 is the lysosomal lysine/arginine transporter, which suggests a molecular explanation for how cysteamine alleviates a lysosomal storage disease. 22822152 2012