POPDC3, popeye domain containing 3, 64208

N. diseases: 15; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0877015
Disease: Pelvic Organ Prolapse
Pelvic Organ Prolapse 		0.020 GeneticVariation disease BEFREE This included 16 females with POP II, 24 females with POP III-IV (according to the POP-Q system) and 20 females with CIN II-III as the control group. 30250520 2018
CUI: C0877015
Disease: Pelvic Organ Prolapse
Pelvic Organ Prolapse 		0.020 GeneticVariation disease BEFREE Women with symptomatic POP (≥III stage according to POP Quantification System) with or without stress urinary incontinence (SUI) underwent VNTR. 28224269 2017
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.020 AlteredExpression disease BEFREE The method of immunohistochemistry was used to investigate the expression of Popdc3 in 306 cases of human gastric cancer and 84 noncancerous gastric tissues. 22654436 2012
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.020 AlteredExpression disease BEFREE The method of immunohistochemistry was used to investigate the expression of Popdc3 in 306 cases of human gastric cancer and 84 noncancerous gastric tissues. 22654436 2012
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 AlteredExpression phenotype BEFREE Low expression of Popdc3 correlated with depth of invasion (P < 0.0001), regional lymph nodes (P < 0.0001) and distant metastasis (P = 0.02), and tumor, nodes, metastasis (TNM) stages (P < 0.0001). 22654436 2012
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.020 PosttranslationalModification disease BEFREE Frequent silencing of popeye domain-containing genes, BVES and POPDC3, is associated with promoter hypermethylation in gastric cancer. 20627872 2010
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.020 PosttranslationalModification disease BEFREE Frequent silencing of popeye domain-containing genes, BVES and POPDC3, is associated with promoter hypermethylation in gastric cancer. 20627872 2010
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 AlteredExpression phenotype BEFREE We knocked down POPDC3 expression with short hairpin RNAs and examined the consequences on cell migration and invasion. 20627872 2010
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.010 GeneticVariation group BEFREE Our findings point to an important role of POPDC3 for skeletal muscle function and suggest that pathogenic variants in POPDC3 are responsible for a novel type of autosomal recessive limb girdle muscular dystrophy.ANN NEUROL 2019;86:832-843. 31610034 2019
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.010 Biomarker disease BEFREE Together these studies suggest that POPDC3 may serve as a potential predictive biomarker for prognosis and radioresistance of patients with HNSCC as well as clinical diagnosis and treatment of patients. 31612055 2019
CUI: C0349459
Disease: Cervical intraepithelial neoplasia grade 2
Cervical intraepithelial neoplasia grade 2 		0.010 GeneticVariation disease BEFREE This included 16 females with POP II, 24 females with POP III-IV (according to the POP-Q system) and 20 females with CIN II-III as the control group. 30250520 2018
CUI: C0042025
Disease: Urinary Stress Incontinence
Urinary Stress Incontinence 		0.010 GeneticVariation disease BEFREE Women with symptomatic POP (≥III stage according to POP Quantification System) with or without stress urinary incontinence (SUI) underwent VNTR. 28224269 2017
CUI: C0023290
Disease: Leishmaniasis, Visceral
Leishmaniasis, Visceral 		0.010 Biomarker disease BEFREE This may have resulted in a strong association of POP3 and Lutzomyia cruzi, which is the main VL vector in Corumbá, and a dispersion of this population in this region that was shaped by human interference. 22606248 2012
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 AlteredExpression phenotype BEFREE Low expression of Popdc3 correlated with depth of invasion (P < 0.0001), regional lymph nodes (P < 0.0001) and distant metastasis (P = 0.02), and tumor, nodes, metastasis (TNM) stages (P < 0.0001). 22654436 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 AlteredExpression group BEFREE The Kaplan-Meier plot showed that low Popdc3 expression had a much more significant effect on the survival of those patients with early-stage tumors (χ² = 104.741, P < 0.0001), with a > 51.9% reduction in the three-year survival compared with high Popdc3 expression. 22654436 2012
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		0.010 GeneticVariation disease BEFREE The association between rs1190286 (POPDC3) and reduced risk of ARDS from pulmonary injury was validated in Stage II (p<0.003). 23048207 2012
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 AlteredExpression phenotype BEFREE Reduced expression of Popdc3 may play a significant role in the carcinogenesis and progression of gastric cancer. 22654436 2012
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 GeneticVariation disease BEFREE Levels of 27 transcripts were investigated as potential novel markers for prostate cancer, including genes encoding plasma membrane proteins (ADAM2, ELOVL5, MARCKSL1, RAMP1, TMEM30A, and TMEM66); secreted proteins (SPON2, TMEM30A, TMEM66, and truncated TMEFF2 (called POP4)); intracellular proteins (CAMK2N1, DHCR24, GLO1, NGFRAP1, PGK1, PSMA7, SBDS, and YWHAQ); and noncoding transcripts (POP1 (100 kb) from mRNA AK000023), POP2 (4 kb from mRNA AL832227), POP3 (50 kb from EST CFI40309), POP5 (intron of NCAM2, accession DO668384), POP6 (intron of FHIT), POP7 (intron of TNFAIP8), POP8 (intron of EFNA5), POP9 (intron of DSTN), POP10 (intron of ADAM2, accession DO668396), POP11 (87kb from EST BG194644), and POP12 (intron of EST BQ226050)). 19893039 2009
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 GeneticVariation disease BEFREE Levels of 27 transcripts were investigated as potential novel markers for prostate cancer, including genes encoding plasma membrane proteins (ADAM2, ELOVL5, MARCKSL1, RAMP1, TMEM30A, and TMEM66); secreted proteins (SPON2, TMEM30A, TMEM66, and truncated TMEFF2 (called POP4)); intracellular proteins (CAMK2N1, DHCR24, GLO1, NGFRAP1, PGK1, PSMA7, SBDS, and YWHAQ); and noncoding transcripts (POP1 (100 kb) from mRNA AK000023), POP2 (4 kb from mRNA AL832227), POP3 (50 kb from EST CFI40309), POP5 (intron of NCAM2, accession DO668384), POP6 (intron of FHIT), POP7 (intron of TNFAIP8), POP8 (intron of EFNA5), POP9 (intron of DSTN), POP10 (intron of ADAM2, accession DO668396), POP11 (87kb from EST BG194644), and POP12 (intron of EST BQ226050)). 19893039 2009