ST14, suppression of tumorigenicity 14, 6768

N. diseases: 170; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852931
rs137852931
Entrez Id: 6768
Gene Symbol: ST14
ST14
CUI: C1835851
Disease:
Ichthyosis with hypotrichosis, autosomal recessive 		0.820 GeneticVariation UNIPROT Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing. 18843291 2009
dbSNP: rs137852931
rs137852931
Entrez Id: 6768
Gene Symbol: ST14
ST14
CUI: C1835851
Disease:
Ichthyosis with hypotrichosis, autosomal recessive 		0.820 GeneticVariation BEFREE Our study, thus, provides direct evidence that the G827R mutation in patients with autosomal recessive ichthyosis with hypotrichosis leads to the expression of an inactive protease. 18263585 2008
dbSNP: rs137852931
rs137852931
Entrez Id: 6768
Gene Symbol: ST14
ST14
CUI: C1835851
Disease:
Ichthyosis with hypotrichosis, autosomal recessive 		0.820 GeneticVariation UNIPROT Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. 17273967 2007
dbSNP: rs137852931
rs137852931
Entrez Id: 6768
Gene Symbol: ST14
ST14
CUI: C1835851
Disease:
Ichthyosis with hypotrichosis, autosomal recessive 		0.820 GeneticVariation BEFREE Human autosomal recessive ichthyosis with hypotrichosis (ARIH) is an inherited disorder recently linked to homozygosity for a point mutation in the ST14 gene that causes a G827R mutation in the matriptase serine protease domain (G216 in chymotrypsin numbering). 17940283 2007
dbSNP: rs137852931
rs137852931
Entrez Id: 6768
Gene Symbol: ST14
ST14
CUI: C1835851
Disease:
Ichthyosis with hypotrichosis, autosomal recessive 		A 0.820 CausalMutation CLINVAR
dbSNP: rs7126904
rs7126904
Entrez Id: 6768
Gene Symbol: ST14
ST14
CUI: C0376705
Disease:
Viral Load result 		A 0.700 GeneticVariation 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
dbSNP: rs7126904
rs7126904
Entrez Id: 6768
Gene Symbol: ST14
ST14
CUI: C1836230
Disease:
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		A 0.700 GeneticVariation 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
dbSNP: rs7126904
rs7126904
Entrez Id: 6768
Gene Symbol: ST14
ST14
CUI: C1836233
Disease:
AIDS, PROGRESSION TO 		A 0.700 GeneticVariation 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
dbSNP: rs7126904
rs7126904
Entrez Id: 6768
Gene Symbol: ST14
ST14
CUI: C1836232
Disease:
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		A 0.700 GeneticVariation 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
dbSNP: rs7126904
rs7126904
Entrez Id: 6768
Gene Symbol: ST14
ST14
CUI: C1836231
Disease:
HIV-1, RESISTANCE TO 		A 0.700 GeneticVariation 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
dbSNP: rs78147979
rs78147979
Entrez Id: 6768
Gene Symbol: ST14
ST14
CUI: C0869220
Disease:
Adverse effects, not elsewhere classified 		A 0.700 GeneticVariation GWASCAT Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records. 30420678 2019
dbSNP: rs577740
rs577740
Entrez Id: 6768
Gene Symbol: ST14
ST14
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs137852932
rs137852932
Entrez Id: 6768
Gene Symbol: ST14
ST14
CUI: C1835851
Disease:
Ichthyosis with hypotrichosis, autosomal recessive 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587777262
rs587777262
Entrez Id: 6768
Gene Symbol: ST14
ST14
CUI: C1835851
Disease:
Ichthyosis with hypotrichosis, autosomal recessive 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587777263
rs587777263
Entrez Id: 6768
Gene Symbol: ST14
ST14
CUI: C1835851
Disease:
Ichthyosis with hypotrichosis, autosomal recessive 		T 0.700 CausalMutation CLINVAR
dbSNP: rs748204991
rs748204991
Entrez Id: 6768
Gene Symbol: ST14
ST14
CUI: C2711227
Disease:
Steatohepatitis 		0.010 GeneticVariation BEFREE The only significant associations were found between LDL receptors exon8 c.1171G>A and METAVIR score or steatosis (P < 0.001). 26494968 2015
dbSNP: rs704624
rs704624
Entrez Id: 6768
Gene Symbol: ST14
ST14
CUI: C0678222
Disease:
Breast Carcinoma 		0.010 GeneticVariation BEFREE The ST14 variant rs704624 and protein expression of matriptase have prognostic significance in breast cancer. 20716618 2010
dbSNP: rs704624
rs704624
Entrez Id: 6768
Gene Symbol: ST14
ST14
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE The ST14 variant rs704624 and protein expression of matriptase have prognostic significance in breast cancer. 20716618 2010