PRSS8, serine protease 8, 5652

N. diseases: 54; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus 		0.200 Biomarker disease MGD
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		0.200 Biomarker disease MGD
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.020 Biomarker disease LHGDN Prostasin, a membrane-anchored serine peptidase, regulates sodium currents in JME/CF15 cells, a cystic fibrosis airway epithelial cell line. 15246975 2004
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.020 AlteredExpression disease LHGDN Prostasin expression is regulated by airway surface liquid volume and is increased in cystic fibrosis. 18310226 2008
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.020 GeneticVariation group LHGDN Genetic variation of the prostasin gene may be implicated in the development of hypertension in youths.. 18583984 2008
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 Biomarker disease LHGDN Gene expression profiling separates chromophobe renal cell carcinoma from oncocytoma and identifies vesicular transport and cell junction proteins as differentially expressed genes. 17145811 2006
CUI: C1510502
Disease: Oxyphilic Adenoma
Oxyphilic Adenoma 		0.010 Biomarker disease LHGDN Gene expression profiling separates chromophobe renal cell carcinoma from oncocytoma and identifies vesicular transport and cell junction proteins as differentially expressed genes. 17145811 2006
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.310 Biomarker disease CTD_human Androgen regulation of prostasin gene expression is mediated by sterol-regulatory element-binding proteins and SLUG. 16541421 2006
CUI: C0011999
Disease: Diastematomyelia
Diastematomyelia 		0.300 Therapeutic disease CTD_human Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea. 24722141 2014
CUI: C0013949
Disease: Embryopathies
Embryopathies 		0.300 Biomarker disease CTD_human Mutations of the serine protease CAP1/Prss8 lead to reduced embryonic viability, skin defects, and decreased ENaC activity. 22705055 2012
CUI: C0015929
Disease: Fetal Diseases
Fetal Diseases 		0.300 Biomarker group CTD_human Mutations of the serine protease CAP1/Prss8 lead to reduced embryonic viability, skin defects, and decreased ENaC activity. 22705055 2012
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.300 Therapeutic group CTD_human Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea. 24722141 2014
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst 		0.300 Therapeutic disease CTD_human Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea. 24722141 2014
CUI: C0032045
Disease: Placenta Disorders
Placenta Disorders 		0.300 Therapeutic group CTD_human Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea. 24722141 2014
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.300 Biomarker group CTD_human Androgen regulation of prostasin gene expression is mediated by sterol-regulatory element-binding proteins and SLUG. 16541421 2006
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		0.300 Biomarker group CTD_human Mutations of the serine protease CAP1/Prss8 lead to reduced embryonic viability, skin defects, and decreased ENaC activity. 22705055 2012
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		0.300 Therapeutic disease CTD_human Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea. 24722141 2014
CUI: C0152234
Disease: Iniencephaly
Iniencephaly 		0.300 Therapeutic disease CTD_human Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea. 24722141 2014
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis 		0.300 Therapeutic disease CTD_human Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea. 24722141 2014
CUI: C0266453
Disease: Exencephaly
Exencephaly 		0.300 Therapeutic disease CTD_human Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea. 24722141 2014
CUI: C0344479
Disease: Spinal Cord Myelodysplasia
Spinal Cord Myelodysplasia 		0.300 Therapeutic disease CTD_human Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea. 24722141 2014
CUI: C0702169
Disease: Acrania
Acrania 		0.300 Therapeutic disease CTD_human Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea. 24722141 2014
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.310 PosttranslationalModification disease BEFREE Genomic Southern blot analysis using methylation sensitive restriction endonucleases was employed to examine the prostasin gene promoter region in prostate cancer cell lines. 14991861 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.080 Biomarker group BEFREE Mechanistic study showed that tumor inhibition of PRSS8 may be associated with proliferation- and epithelial mesenchymal transition - related proteins in ESCC cells. 27081034 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.080 Biomarker group BEFREE Previous studies have shown that a specific 9-mer amino acid epitope (designated CAP-1) of the human "self" tumor-associated carcinoembryonic antigen can be used to stimulate CD8+ T cells from peripheral blood mononuclear cells of carcinoma patients vaccinated with pox vector-based carcinoembryonic antigen vaccines. 12738714 2003