All Snps(Total Genotypes:21) |
|---|
| snpId |
pubmedId |
geneId |
geneSymbol |
diseaseId |
sourceId |
sentence |
score |
Year |
geneSymbol_dbSNP |
CHROMOSOME |
POS |
REF |
ALT |
| rs113488022 | 24838325 | 673 | BRAF | umls:C0032002 | BeFree | VE1 antibody immunoreactivity in normal anterior pituitary and adrenal cortex without detectable BRAF V600E mutations. | 0.000271442 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs121912438 | 22621959 | 6647 | SOD1 | umls:C0032002 | BeFree | Specifically, we observe aberrant endogenous pulsatile GH secretion, reduced pituitary GH content, and decreased circulating levels of IGF-I, indicating global GH deficiency in hSOD1(G93A) mice. | 0.000542884 | 2012 | SOD1 | 21 | 31667299 | G | C |
| rs121912438 | 22621959 | 3479 | IGF1 | umls:C0032002 | BeFree | Specifically, we observe aberrant endogenous pulsatile GH secretion, reduced pituitary GH content, and decreased circulating levels of IGF-I, indicating global GH deficiency in hSOD1(G93A) mice. | 0.008143256 | 2012 | SOD1 | 21 | 31667299 | G | C |
| rs121917839 | 14614227 | 5626 | PROP1 | umls:C0032002 | BeFree | PROP-1 gene mutation (R120C) causing combined pituitary hormone deficiencies with variable clinical course in eight siblings of one Jewish Moroccan family. | 0.015200745 | 2003 | PROP1 | 5 | 177993032 | G | A |
| rs121918697 | 21871106 | 7068 | THRB | umls:C0032002 | BeFree | An intronic SNP in the thyroid hormone receptor β gene is associated with pituitary cell-specific over-expression of a mutant thyroid hormone receptor β2 (R338W) in the index case of pituitary-selective resistance to thyroid hormone. | 0.002442977 | 2011 | THRB | 3 | 24127631 | G | A |
| rs121918709 | 10022392 | 7068 | THRB | umls:C0032002 | BeFree | A 29-yr-old woman with pituitary resistance to thyroid hormones (PRTH) was found to harbor a novel point mutation (T337A) on exon 9 of the thyroid hormone receptor beta (TRbeta) gene. | 0.002442977 | 1999 | THRB | 3 | 24127634 | T | C |
| rs12720062 | 17933751 | 3623 | INHA | umls:C0032002 | BeFree | Mouse LbetaT2 pituitary gonadotrope, human granulosa (COV434) and human embryonic kidney (HEK293) cells were co-transfected with an activin-responsive reporter and increasing amounts of wild-type or variant A257T inhibin alpha subunit, and the degree of inhibin antagonism of activin signalling determined. | 0.000271442 | 2007 | INHA | 2 | 219575194 | G | A |
| rs132630301 | 14714754 | 84295 | PHF6 | umls:C0032002 | BeFree | We describe two brothers with Borjeson-Forssman-Lehmann syndrome and the 22A-->T (Lys8X) PHF6 mutation, who presented with the symptoms and signs of multiple pituitary hormone deficiency. | 0.000542884 | 2003 | PHF6 | X | 134377639 | A | T |
| rs146462069 | 25527509 | 2688 | GH1 | umls:C0032002 | BeFree | Immunohistochemistry showed increased IGSF1 staining in the GH-producing tumor from the patient with the IGSF1 p.N604T variant compared with a GH-producing adenoma from a patient negative for any IGSF1 variants and with normal control pituitary tissue. | 0.038001862 | 2015 | IGSF1 | X | 131278706 | T | C,G |
| rs1799971 | 21507151 | 4988 | OPRM1 | umls:C0032002 | BeFree | Mu-opioid receptor A118G polymorphism in healthy volunteers affects hypothalamic-pituitary-adrenal axis adrenocorticotropic hormone stress response to metyrapone. | 0.000271442 | 2013 | OPRM1 | 6 | 154039662 | A | G |
| rs2596623 | 21871106 | 10383 | TUBB4B | umls:C0032002 | BeFree | Reporter gene assay experiments in GH3 pituitary-derived cells indicate that rs2596623T generates an increased pituitary cell-specific activity of the TR β2 promoter suggesting that rs2596623T leads to pituitary over-expression of the mutant allele. | 0.000542884 | 2011 | THRB;LOC101927854 | 3 | 24163493 | C | T |
| rs2596623 | 21871106 | 4760 | NEUROD1 | umls:C0032002 | BeFree | Reporter gene assay experiments in GH3 pituitary-derived cells indicate that rs2596623T generates an increased pituitary cell-specific activity of the TR β2 promoter suggesting that rs2596623T leads to pituitary over-expression of the mutant allele. | 0.001357209 | 2011 | THRB;LOC101927854 | 3 | 24163493 | C | T |
| rs28933408 | 16099238 | 7068 | THRB | umls:C0032002 | BeFree | We studied pituitary and peripheral tissue responses to graded doses of liothyronine (L-T3) in 5 affected members (2 children and 3 adults) of a family with RTH due to the common TRbeta mutation P453T. | 0.002442977 | 2005 | THRB | 3 | 24122913 | G | T,C |
| rs28933408 | 23240983 | 7068 | THRB | umls:C0032002 | BeFree | A 44-year-old Japanese woman with RTH, which was confirmed by the presence of a P453A mutation in the thyroid hormone receptor β (TRβ) gene, showed a slight elevation of the basal levels of thyroid hormones, which indicated that her pituitary RTH was mild. | 0.002442977 | 2014 | THRB | 3 | 24122913 | G | T,C |
| rs351855 | 22174695 | 2264 | FGFR4 | umls:C0032002 | BeFree | The FGFR4-G388R polymorphism promotes mitochondrial STAT3 serine phosphorylation to facilitate pituitary growth hormone cell tumorigenesis. | 0.000814326 | 2011 | FGFR4 | 5 | 177093242 | G | A |
| rs351855 | 22174695 | 6774 | STAT3 | umls:C0032002 | BeFree | The FGFR4-G388R polymorphism promotes mitochondrial STAT3 serine phosphorylation to facilitate pituitary growth hormone cell tumorigenesis. | 0.000814326 | 2011 | FGFR4 | 5 | 177093242 | G | A |
| rs386602280 | 15037867 | 3356 | HTR2A | umls:C0032002 | BeFree | Intracellular 5-HT-induced Ca(2+) release by platelets and fenfluramine-induced prolactin release by pituitary were evaluated in 27 psychiatrically interviewed subjects (including both impulsive patients and controls) stratified by His452Tyr genotype and also genotyped for a second 5-HT(2A) polymorphism, 102T>C. Subjects with increased measures of impulsivity showed decreased postreceptor 5-HT function, as indicated by reduced 5-HT-induced Ca(2+) release, but no alteration in net 5-HT function, as measured by fenfluramine response. | 0.000271442 | 2004 | NA | NA | NA | NA | NA |
| rs386602280 | 15037867 | 5617 | PRL | umls:C0032002 | BeFree | Intracellular 5-HT-induced Ca(2+) release by platelets and fenfluramine-induced prolactin release by pituitary were evaluated in 27 psychiatrically interviewed subjects (including both impulsive patients and controls) stratified by His452Tyr genotype and also genotyped for a second 5-HT(2A) polymorphism, 102T>C. Subjects with increased measures of impulsivity showed decreased postreceptor 5-HT function, as indicated by reduced 5-HT-induced Ca(2+) release, but no alteration in net 5-HT function, as measured by fenfluramine response. | 0.03773042 | 2004 | NA | NA | NA | NA | NA |
| rs6318 | 25457638 | 3358 | HTR2C | umls:C0032002 | BeFree | Previously we have shown that a functional nonsynonymous single nucleotide polymorphism (SNP), rs6318 on the HTR2C gene located on the X-chromosome, is associated with hypothalamic-pituitary-adrenal axis response to a laboratory stress recall task. | 0.000542884 | 2014 | HTR2C;LOC105373313 | X | 114731326 | C | G |
| rs6318 | 24386118 | 3358 | HTR2C | umls:C0032002 | BeFree | Previously we have shown that a functional nonsynonymous single nucleotide polymorphism (rs6318) of the 5HTR2C gene located on the X-chromosome is associated with hypothalamic-pituitary-adrenal axis response to a stress recall task, and with endophenotypes associated with cardiovascular disease (CVD). | 0.000542884 | 2013 | HTR2C;LOC105373313 | X | 114731326 | C | G |
| rs9939609 | 24307561 | 79068 | FTO | umls:C0032002 | BeFree | We also found an association between the FTO rs9939609 and thyrotropin, suggesting the possible influence of FTO in the hypothalamic-pituitary-thyroid axis as a potential mechanism of the increased adiposity. | 0.000542884 | 2013 | FTO | 16 | 53786615 | T | A |
