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: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 GeneticVariation disease BEFREE Taken together, the data strongly advocate this ST14 variant as the underlying genetic cause of ARIH syndrome in this first reported affected family from Pakistan. 29611532 2018
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 GeneticVariation disease BEFREE Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a mutation in the ST14 gene, which encodes serine protease matriptase. 18445049 2008
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 GeneticVariation disease BEFREE Mutation G827R in matriptase causing autosomal recessive ichthyosis with hypotrichosis yields an inactive protease. 18263585 2008
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 GeneticVariation disease BEFREE Genetic defects in matriptase are linked to two congenital ichthyoses: autosomal recessive ichthyosis with hypotrichosis (ARIH, OMIM 610765) and ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis (IFAH, OMIM 602400). 23900022 2014
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 GeneticVariation disease UNIPROT Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing. 18843291 2009
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 GeneticVariation disease UNIPROT Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. 17273967 2007
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: 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 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 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 GeneticVariation disease LHGDN [Recessive autosomal ichthyosis with hypotrichosis with mutation in the ST14 gene]. 17978729 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 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 GeneticVariation disease BEFREE The ST14 variant rs704624 and protein expression of matriptase have prognostic significance in breast cancer. 20716618 2010
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		0.100 GeneticVariation disease BEFREE Her father had no clinical or biochemical signs of haemophilia A. RFLP-analysis using DX13 and St14 probes each elicited one allele (5.8 and 3.4 kb, respectively) segregating along with the affected F VIII gene from the hemizygous grandfather to both his daughters and further to the haemophilic female child. 2564325 1989
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		0.100 GeneticVariation disease BEFREE Carrier detection and prenatal diagnosis of hemophilia A in a Korean population by PCR-based analysis of the BclI/intron 18 and St14 VNTR polymorphisms. 10944851 2000
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		0.100 GeneticVariation disease BEFREE Sixty-five individuals belonging to 16 argentinian families of hemophilia A were studied using the St 14 probe (DXS52 locus). 1973342 1990
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		0.100 GeneticVariation disease BEFREE Postulating that the combined use of all the available intragenic and extragenic markers can render such diagnoses more frequently feasible and more reliable, we carried out ten first-trimester prenatal diagnoses in male fetuses at risk for hemophilia A by DNA analysis of chorionic villus employing in combination the intragenic Bcl I polymorphism and the St 14 (DXS 52) or DX 13 (DXS 15) extragenic probes. 3127923 1987
CUI: C0376705
Disease: Viral Load result
Viral Load result 		0.100 GeneticVariation phenotype GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.100 GeneticVariation phenotype GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 GeneticVariation disease BEFREE The ST14 variant rs704624 and protein expression of matriptase have prognostic significance in breast cancer. 20716618 2010
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		0.100 GeneticVariation disease GWASCAT Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records. 30420678 2019