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: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.100 GeneticVariation disease 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: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		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: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		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: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		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: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.030 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: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.030 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: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.030 GeneticVariation disease BEFREE One hundred sixteen CHC patients were evaluated for HAI, fibrosis and steatosis grades, body mass index, HCV genotypes, HCV RNA levels, homocysteinemia, and the MTHFR C677T polymorphism. 15834927 2005
CUI: C4721530
Disease: Congenital hypotrichia
Congenital hypotrichia 		0.030 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: C0008533
Disease: Hemophilia B
Hemophilia B 		0.020 GeneticVariation disease BEFREE The approach for hemophilia A carrier detection includes tests for BclI, XbaI, and TaqI polymorphic sites for introns 18 and 22 and the extragenic locus St 14, respectively, whereas for hemophilia B, tests include detection of TaqI, DdeI, and HhaI polymorphic sites for introns 4 and 1, and the 3' flanking region of the factor IX gene, respectively. 9092680 1997
CUI: C0019189
Disease: Hepatitis, Chronic
Hepatitis, Chronic 		0.020 GeneticVariation disease BEFREE The patients with moderate to high HBV DNA of the patients with wild type CHB, 78.4% (76 patients) had minimal to mild chronic hepatitis (HAI-NI 0-8) and 21.6% (21) had moderate to severe chronic hepatitis (HAI-NI 9-18). 17897910 2007
CUI: C0019189
Disease: Hepatitis, Chronic
Hepatitis, Chronic 		0.020 GeneticVariation disease BEFREE Cirrhotic patients showed significantly lower levels of viremia than those with chronic hepatitis with a similar HAI. 11508667 2001
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.020 GeneticVariation disease BEFREE According to multivariate analysis, steatosis was independently associated with hyperhomocysteinemia (OR = 7.1), HAI (OR = 3.8), liver fibrosis (OR = 4.0), and HCV genotype 3 (OR = 4.6). 15834927 2005
CUI: C0472801
Disease: Hemophilia A carrier
Hemophilia A carrier 		0.020 GeneticVariation disease BEFREE The approach for hemophilia A carrier detection includes tests for BclI, XbaI, and TaqI polymorphic sites for introns 18 and 22 and the extragenic locus St 14, respectively, whereas for hemophilia B, tests include detection of TaqI, DdeI, and HhaI polymorphic sites for introns 4 and 1, and the 3' flanking region of the factor IX gene, respectively. 9092680 1997
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 GeneticVariation disease BEFREE A novel serine protease SNC19 associated with human colorectal cancer. 11780337 2001
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 GeneticVariation disease BEFREE The patients with moderate to high HBV DNA of the patients with wild type CHB, 78.4% (76 patients) had minimal to mild chronic hepatitis (HAI-NI 0-8) and 21.6% (21) had moderate to severe chronic hepatitis (HAI-NI 9-18). 17897910 2007
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.010 GeneticVariation disease BEFREE The main clinical features are summarised by the acronym.Kenwrick et al. reported a separate family with X-linked recessive spastic paraplegia and mental retardation and demonstrated close linkage to DXS15 and DXS52 (DX13 and St14) at Xq28. 2737668 1989
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.010 GeneticVariation disease BEFREE The main clinical features are summarised by the acronym.Kenwrick et al. reported a separate family with X-linked recessive spastic paraplegia and mental retardation and demonstrated close linkage to DXS15 and DXS52 (DX13 and St14) at Xq28. 2737668 1989
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		0.010 GeneticVariation disease BEFREE In five families with X-linked nephrogenic diabetes insipidus (NDI), linkage studies with the DNA marker DXS52, defined by probe St14, have shown no recombination with a maximum combined lod score of 6.40. 3226453 1988
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		0.010 GeneticVariation disease BEFREE A lod score of 4.26 with polymorphic marker DXS52 (St14) confirms the linkage of HSAS to Xq28. 8474107 1993
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.010 GeneticVariation disease BEFREE No recombination was observed between the locus for dyskeratosis congenita (DKC) and the RFLPs identified by DXS52 (St14-1) (Zmax = 3.33 at theta max = 0 with 95% confidence limits of 0 to 14cM). 3009302 1986
CUI: C0456103
Disease: Sepsis of the newborn
Sepsis of the newborn 		0.010 GeneticVariation disease BEFREE Predominance of Klebsiella pneumoniae ST14 carrying CTX-M-15 causing neonatal sepsis in Tanzania. 24099282 2013
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		0.010 GeneticVariation disease BEFREE According to multivariate analysis, steatosis was independently associated with hyperhomocysteinemia (OR = 7.1), HAI (OR = 3.8), liver fibrosis (OR = 4.0), and HCV genotype 3 (OR = 4.6). 15834927 2005
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.010 GeneticVariation disease BEFREE There is a suggestion of linkage between EDMD and the loci DXS52 and DXS15, defined by probes St14 and DX13 respectively, located at Xq28.Z for DXS15 = 1.14 at theta = 0.15. 3466853 1986
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
Nephrogenic Diabetes Insipidus, Type I 		0.010 GeneticVariation disease BEFREE In five families with X-linked nephrogenic diabetes insipidus (NDI), linkage studies with the DNA marker DXS52, defined by probe St14, have shown no recombination with a maximum combined lod score of 6.40. 3226453 1988
CUI: C3495426
Disease: Homocysteinemia
Homocysteinemia 		0.010 GeneticVariation disease BEFREE On univariate analysis, fibrosis was associated with age, steatosis, MTHFR, homocysteinemia and HAI; however, on multivariate analysis, liver fibrosis was independently associated with age (P = .03), HAI (P = .0001), and steatosis (P = .007). 15834927 2005