STATH, statherin, 6779

N. diseases: 57; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.010 Biomarker disease BEFREE Genetic linkage studies have provided significant evidence that a major gene defect, AD3, for familial early-onset Alzheimer's disease (EOAD) is located at chromosome 14q24.3, between the short tandem repeat (STR) markers D14S52 and D14S53 defining a genetic size of 22.7 cM for the AD3 candidate region. 7581374 1995
CUI: C1834304
Disease: AMYOTROPHY, HEREDITARY NEURALGIC
AMYOTROPHY, HEREDITARY NEURALGIC 		0.020 GeneticVariation disease BEFREE Significant linkage was obtained with chromosome 17q24-q25 short tandem repeat (STR) markers in three HNA families and suggestive linkage was found in the other two HNA families. 10602368 1999
CUI: C1834304
Disease: AMYOTROPHY, HEREDITARY NEURALGIC
AMYOTROPHY, HEREDITARY NEURALGIC 		0.020 GeneticVariation disease BEFREE Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant recurrent neuropathy mapped to a 4-cM interval on chromosome 17q25 between the short tandem repeat (STR) markers D17S1603 and D17S802. 10610718 1999
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		0.010 Biomarker disease BEFREE To explore genetic contributions to AN, we measured psychiatric, personality and temperament phenotypes of individuals diagnosed with eating disorders from 196 multiplex families, all accessed through an AN proband, as well as genotyping a battery of 387 short tandem repeat (STR) markers distributed across the genome. 11912184 2002
CUI: C1860042
Disease: Antley-Bixler Syndrome with Disordered Steroidogenesis
Antley-Bixler Syndrome with Disordered Steroidogenesis 		0.010 GeneticVariation disease BEFREE Furthermore, STR markers linked to the POR gene were included to support the diagnosis of P450 oxidoreductase (POR) deficiency. 19621255 2009
CUI: C0004096
Disease: Asthma
Asthma 		0.010 Biomarker disease BEFREE We previously reported an association between genetic differences of pediatric asthma subtypes and a short tandem repeat (STR) marker, D9S286. 18414509 2008
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.010 GeneticVariation disease BEFREE The aims of this study were to examine the association between the ADRA2C (GT)n repeat polymorphism (STR marker adra2c1) and ADHD in a Korean sample. 18835330 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker disease CTD_human Phosphorylation level of four specific salivary phospho-peptides, namely statherin, histatin 1 (both, p < 0.0001) and acidic proline-rich proteins (both entire and truncated isoforms) (p < 0.005) was found significantly lower in autistic patients, with hypo-phosphorylation of at least one peptide observed in 18 ASD subjects (66%). 19367726 2008
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		0.010 Biomarker disease BEFREE Microsatellite (STR) markers tightly linked to genes known to be responsible for adRP were selected for linkage analysis. 23834559 2015
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		0.010 GeneticVariation disease BEFREE We have developed 20 polymorphic STR markers suitable for linkage analysis of ARPKD. 20490649 2010
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 AlteredExpression disease BEFREE In this study, 75 lung cancer tissue samples were examined to evaluate the reliability of various STR markers. 29154002 2018
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.010 Biomarker disease BEFREE We have previously hypothesized that CHARGE syndrome could be caused by unidentified genomic microdeletion, but no such deletion was detected using short tandem repeat (STR) markers spaced an average of 5 cM apart. 15710038 2005
CUI: C0008487
Disease: Chordoma
Chordoma 		0.010 Biomarker disease BEFREE Previously, we performed linkage analysis using microsatellite (STR) markers on 3 unrelated chordoma kindreds (16 patients with chordoma) and reported significant evidence for linkage to chromosome 7q33 (Z(max) = 4.78) with a minimal disease gene region of 11 cM. 15818627 2005
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 GeneticVariation disease BEFREE Polymorphisms of TCR-gamma microsatellite (short tandem repeats, STR) marker has been associated with early-onset colorectal cancer. 17094402 2006
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.010 Biomarker disease BEFREE The aims of this study were to demonstrate sensitivity of DNA diagnosis of Down syndrome using polymerase chain reaction (PCR) and short tandem repeat (STR) markers, and to determine the parental origin of the nondisjoined chromosome. 20722466 2010
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.010 Biomarker disease BEFREE Loss of heterozygosity (LOH) was evaluated in all CS ERMS by microarray and/or short tandem repeat (STR) markers spanning the entire chromosome 11. 27589201 2016
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.010 GeneticVariation disease BEFREE Considering the negative screening for rare genetic variants in ADIPOQ and STATH genes, it may be concluded that these genes are not associated with phenotypic modulation of CF in our population. 31606405 2019
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 Biomarker disease BEFREE These two STR markers were able to detect 86.7% cases of trisomy 21. 20722466 2010
CUI: C0476254
Disease: Dyslexia
Dyslexia 		0.010 GeneticVariation disease BEFREE We observed suggestive evidence for linkage at STR-marker D15S143; this was the strongest implicated marker in the previous linkage studies on dyslexia. 18496212 2008
CUI: C0206656
Disease: Embryonal Rhabdomyosarcoma
Embryonal Rhabdomyosarcoma 		0.010 Biomarker disease BEFREE Loss of heterozygosity (LOH) was evaluated in all CS ERMS by microarray and/or short tandem repeat (STR) markers spanning the entire chromosome 11. 27589201 2016
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy 		0.010 Biomarker disease BEFREE Exclusion analyses of the known late-onset FCD loci were completed with closely spaced STR markers, whereas genes associated with early- and late-onset FCD were investigated by bidirectional sequencing. 20811064 2010
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.010 GeneticVariation disease BEFREE We performed preimplantation genetic diagnosis (PGD) on 595 blastomeres biopsied from 442 cleavage stage embryos at risk for FXS using short tandem repeat (STR) markers. 25953684 2015
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		0.020 GeneticVariation disease BEFREE The heterozygosities observed for RFLP markers was higher (>70%) than the STR markers (50%) in the affected families with haemophilia A. Inversion mutation was detected in 37% of severely affected patients. 12373312 2002
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		0.020 GeneticVariation disease BEFREE Thus, carrier screening and prenatal diagnosis of hemophilia A often depends on haplotype analysis using restriction fragment length polymorphisms (RFLP) and short tandem repeat (STR) markers to track the defective factor VIII gene within a family. 12768323 2003
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		0.010 GeneticVariation disease BEFREE A model of heterogeneity with linkage of the disease gene to the STR markers in 70% of the families (with a 95% confidence interval of 26%-96%) produced a maximum LOD score of 8.11, with the most likely position of EXT between D8S85 and D8S199. 8317501 1993