Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3493
Gene Symbol: IGHA1
IGHA1
0.010 Biomarker disease BEFREE IgA1 mRNA-expressing cells were predominant both in granulomas and cysts (mean = 75.3 +/- 11.2%, 64.8 +/- 21.3%, respectively), and the IgA1 proportion was higher in granulomas than in cysts, although no significant difference was seen between the two lesions (p = 0.132). 9587322 1997
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.400 Biomarker disease CTD_human A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation. 21685914 2011
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
0.330 GeneticVariation disease BEFREE A rare mutation of the folliculin gene was detected in the patient and members with pulmonary cysts or pneumothorax, but no skin or renal lesions were found. 24346394 2014
Entrez Id: 10640
Gene Symbol: EXOC5
EXOC5
0.020 Biomarker disease BEFREE Adding hepatocyte growth factor to induce tubulogenesis, we observed that EXOC5-OE cell cysts form tubules more efficiently than control MDCK cell cysts, EXOC5CTS-m MDCK cell cysts form significantly fewer tubules than control cell cysts, and Exoc5-KD cysts did not undergo tubulogenesis. 30824539 2019
Entrez Id: 2875
Gene Symbol: GPT
GPT
0.010 AlteredExpression disease BEFREE After 30 days of daily treatment, total number and weight of cysts and size of the largest cyst as well as blood serum bilirubin and liver enzymes were compared between the mice of different groups.The total number and weight of cysts and size of the largest cyst were significantly lower in treated groups <i>A. sativum</i> 10 mL/L + Albendazole 50 and Albendazole 100 in comparison to those of the control group (<i>p</i> < 0.05).The activity of alanine aminotransferase (ALT) enzyme and bilirubin concentration were significantly lower in the mice treated with <i>A. sativum</i> 10 mL/L and <i>A. sativum</i> 10 mL/L + Albendazole 50, when compared to the control group. 29693456 2019
Entrez Id: 410
Gene Symbol: ARSA
ARSA
0.010 Biomarker disease BEFREE All samples of FLA were cloned and identified as belonging to the genus Acanthamoeba by the morphology of cysts and trophozoites and by PCR using genus-specific primers that amplify the ASA.S1 region of 18S rDNA gene. 21882008 2011
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.400 GeneticVariation disease BEFREE All subjects over the age of 30 years carrying a mutation at the PKD1 locus showed renal ultrasonographic cysts, but 40% of carriers of the PKD1 mutation younger than 30 years did not have renal cysts. 1583643 1992
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
0.010 Biomarker disease BEFREE All subjects with GPR56-related BFPP showed a characteristic morphological pattern, including abnormalities of the cerebellar cortex with cerebellar cysts located at the periphery, a mildly thick corpus callosum, and a flat pons. 23274687 2013
Entrez Id: 4312
Gene Symbol: MMP1
MMP1
0.010 AlteredExpression disease BEFREE Although MMP-1 was not detected, MMP-9 and MMP-2 were expressed in all of the cysts. 16213873 2005
Entrez Id: 4318
Gene Symbol: MMP9
MMP9
0.030 AlteredExpression disease BEFREE Although MMP-1 was not detected, MMP-9 and MMP-2 were expressed in all of the cysts. 16213873 2005
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
0.020 AlteredExpression disease BEFREE Although MMP-1 was not detected, MMP-9 and MMP-2 were expressed in all of the cysts. 16213873 2005
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.400 GeneticVariation disease BEFREE An affected son, but not the mother, in the Italian family had the nonsense mutation PKD1: p.R4228X, which appeared de novo in the son, with simple cysts probably explaining the mother's phenotype. 23760289 2014
Entrez Id: 174
Gene Symbol: AFP
AFP
0.010 AlteredExpression disease BEFREE An elevated maternal serum α-fetoprotein level, slightly elevated human chorionic gonadotropin level, normal karyotype, multicystic lesions on ultrasound, and varying degrees of flow within cysts using color Doppler (stained-glass appearance) are helpful in making the diagnosis. 31670834 2019
Entrez Id: 285
Gene Symbol: ANGPT2
ANGPT2
0.020 Biomarker disease BEFREE Angiotensin-converting enzyme, ANG II type 1 receptor, and ANG II peptide are also present within cysts and in many tubules; and some cyst fluids contain high ANG II concentrations. 15187005 2004
Entrez Id: 738
Gene Symbol: VPS51
VPS51
0.010 Biomarker disease BEFREE Angiotensin-converting enzyme, ANG II type 1 receptor, and ANG II peptide are also present within cysts and in many tubules; and some cyst fluids contain high ANG II concentrations. 15187005 2004
Entrez Id: 10857
Gene Symbol: PGRMC1
PGRMC1
0.010 Biomarker disease BEFREE As with our previous report of Pgrmc1d/d mice, Pgrmc2d/d and Pgrmc1/2d/d mice developed endometrial cysts consistent with accelerated aging of this tissue. 28005395 2017
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
0.100 GeneticVariation disease BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is a very common inherited disease caused by mutations in PKD1 or PKD2 genes characterized by progressive enlargement of fluid-filled cysts and loss of renal function [1]. 12411744 2003
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.400 GeneticVariation disease BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is an inherited monogenic renal disease characterised by the accumulation of clusters of fluid-filled cysts in the kidneys and is caused by mutations in PKD1 or PKD2 genes. 30858458 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
0.100 GeneticVariation disease BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is an inherited monogenic renal disease characterised by the accumulation of clusters of fluid-filled cysts in the kidneys and is caused by mutations in PKD1 or PKD2 genes. 30858458 2019
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.400 GeneticVariation disease BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is primarily caused by mutations in polycystin 1, transient receptor potential channel interacting (PKD1) and PKD2, and characterized by numerous cysts in various organs, primarily the kidneys and liver. 30651829 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
0.100 Biomarker disease BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is primarily caused by mutations in polycystin 1, transient receptor potential channel interacting (PKD1) and PKD2, and characterized by numerous cysts in various organs, primarily the kidneys and liver. 30651829 2019
Entrez Id: 4236
Gene Symbol: MFAP1
MFAP1
0.010 Biomarker disease BEFREE AVP elevates cyclic AMP in vulnerable tubule cells to stimulate mitogenesis and fluid secretion, thereby causing cysts to form and enlarge indefinitely. 25022529 2015
Entrez Id: 353
Gene Symbol: APRT
APRT
0.010 Biomarker disease BEFREE AVP elevates cyclic AMP in vulnerable tubule cells to stimulate mitogenesis and fluid secretion, thereby causing cysts to form and enlarge indefinitely. 25022529 2015
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.010 GeneticVariation disease BEFREE By 12 months of age approximately 18% of Cav1-/- females developed single or multiple dilated endometrial cysts lined by a flattened, simple low epithelium. 21467199 2011
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13
0.010 Biomarker disease BEFREE By chemical labeling coupled with proteomic approach, we have identified a putative surface protein (SPD1, Broad Institute gene accession number PNEG_01848) derived from single suspended P. murina cysts. 28012778 2017