ST14, suppression of tumorigenicity 14, 6768

N. diseases: 170; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.400 Biomarker disease BEFREE The results together indicate that HAI-2 is a cognate inhibitor of matriptase, and KD1 of HAI-2 plays a major role in the inhibition of cellular matritptase activation as well as human prostate cancer invasion. 29118397 2017
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
Ichthyosis linearis circumflexa 		0.300 Biomarker disease CTD_human Here we show that the membrane protease matriptase initiates Netherton syndrome in a LEKTI-deficient mouse model by premature activation of a pro-kallikrein cascade. 20657595 2010
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		0.210 Biomarker disease MGD
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		0.210 GeneticVariation disease BEFREE Matriptase deletion initiates a Sjögren's syndrome-like disease in mice. 24551030 2014
CUI: C0086981
Disease: Sicca Syndrome
Sicca Syndrome 		0.200 Biomarker disease MGD
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.170 GeneticVariation disease BEFREE Two missense mutations in ST14 were recently described in patients with a phenotype of ichthyosis and hypotrichosis, indicating diverse activities of matriptase in the epidermis and hair follicles. 18843291 2009
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.170 GeneticVariation disease LHGDN Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. 17273967 2007
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.170 Biomarker disease BEFREE Thus, ST14 hypomorphic mice developed hyperproliferative and retention ichthyosis with impaired desquamation, hypotrichosis with brittle, thin, uneven, and sparse hair, and tooth defects. 17940283 2007
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.170 GeneticVariation disease BEFREE A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome. 29208051 2017
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.170 GeneticVariation disease LHGDN [Recessive autosomal ichthyosis with hypotrichosis with mutation in the ST14 gene]. 17978729 2007
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.170 Biomarker disease BEFREE These collective data suggest that, unlike mouse matriptase, human matriptase may be involved in the regulation of keratinocyte growth and early differentiation, rather than terminal differentiation, providing mechanistic insights into the pathology of the two congenital ichthyoses: ARIH and IFAH. 23900022 2014
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.170 GeneticVariation disease LHGDN Mutation G827R in matriptase causing autosomal recessive ichthyosis with hypotrichosis yields an inactive protease. 18263585 2008
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.170 Biomarker disease HPO
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.160 GeneticVariation disease LHGDN [Recessive autosomal ichthyosis with hypotrichosis with mutation in the ST14 gene]. 17978729 2007
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.160 AlteredExpression disease BEFREE Autosomal ichthyosis with hypotrichosis syndrome displays low matriptase proteolytic activity and is phenocopied in ST14 hypomorphic mice. 17940283 2007
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.160 GeneticVariation disease LHGDN Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. 17273967 2007
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.160 GeneticVariation disease LHGDN Mutation G827R in matriptase causing autosomal recessive ichthyosis with hypotrichosis yields an inactive protease. 18263585 2008
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.160 Biomarker disease HPO
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.160 GeneticVariation disease BEFREE A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome. 29208051 2017
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.160 Biomarker disease BEFREE Two missense mutations in ST14 were recently described in patients with a phenotype of ichthyosis and hypotrichosis, indicating diverse activities of matriptase in the epidermis and hair follicles. 18843291 2009
CUI: C0005741
Disease: Blepharitis
Blepharitis 		0.100 Biomarker disease HPO
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 AlteredExpression disease BEFREE The epithelial-selective expression of matriptase and HAI-1 was further confirmed in human breast cancers by immunohistochemistry and in situ hybridization, where the expression of the protease and the inhibitor were found in the carcinoma cells and in surrounding normal breast epithelia. 11290548 2001
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 AlteredExpression disease BEFREE We examined HGF, the HGF receptor (c-Met), HGFA, matriptase, and the activation inhibitors (HAI-1 and HAI-2), tissues from patients with breast cancer. 14734471 2004
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 Biomarker disease BEFREE Activated matriptase as a target to treat breast cancer with a drug conjugate. 29899836 2018