Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 780915
Gene Symbol: CHNG3
CHNG3
0.010 Biomarker disease BEFREE Resistance to thyrotropin (TSH) (RTSH; defined by elevated TSH and a normal or hypoplastic thyroid gland) can be caused by mutations in genes encoding the TSH receptor and PAX8, and it has been linked to a locus on chromosome 15. 27821020 2017
Entrez Id: 29118
Gene Symbol: DDX25
DDX25
0.010 Biomarker disease BEFREE Furthermore, when several clinical parameters of THR were compared in several affected members from two kindreds with GRTH, we found that two cases in one kindred exhibited a high mutant-to-normal hTR beta ratio and had considerably more bone resistance during their development. 8486789 1993
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
0.010 GeneticVariation disease BEFREE DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype. 27821020 2017
Entrez Id: 2688
Gene Symbol: GH1
GH1
0.010 Biomarker disease BEFREE Follow-up examinations revealed resistance to thyroid-stimulating hormone and a bioinactive growth hormone. 27425121 2017
Entrez Id: 2691
Gene Symbol: GHRH
GHRH
0.010 Biomarker disease BEFREE Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib. 17595244 2007
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.020 GeneticVariation disease BEFREE In vitro effects of the mutations on cAMP production and TSH binding were investigated in COS7 cells. cAMP production was evaluated by transfecting a cAMP response element (CRE)-luciferase reporter with pSVL-TSHR and pSVK3-GNAS vectors. 21186955 2011
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.020 GeneticVariation disease BEFREE A genetic and functional GNAS study was undertaken in a boy with morbid obesity (body mass index Z-score of 5 at the age of 3 yr, with a body fat fraction of 40%, which is more than twice normal), TSH resistance, pseudohypoparathyroidism, and a prothrombotic state. 18796523 2008
Entrez Id: 8648
Gene Symbol: NCOA1
NCOA1
0.200 Biomarker disease MGD Mice deficient in the steroid receptor co-activator 1 (SRC-1) are resistant to thyroid hormone. 10202153 1999
Entrez Id: 8648
Gene Symbol: NCOA1
NCOA1
0.200 Biomarker disease MGD Thyroid hormone receptor-specific interactions with steroid receptor coactivator-1 in the pituitary. 12576486 2003
Entrez Id: 8648
Gene Symbol: NCOA1
NCOA1
0.200 Biomarker disease MGD Partial hormone resistance in mice with disruption of the steroid receptor coactivator-1 (SRC-1) gene. 9506940 1998
Entrez Id: 8648
Gene Symbol: NCOA1
NCOA1
0.200 Biomarker disease MGD SRC-1 null mice exhibit moderate motor dysfunction and delayed development of cerebellar Purkinje cells. 12514218 2003
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
0.010 Biomarker disease BEFREE Mutation of a gene for thyroid transcription factor-1 (TITF1) in a patient with clinical features of resistance to thyrotropin. 18506088 2008
Entrez Id: 7849
Gene Symbol: PAX8
PAX8
0.010 GeneticVariation disease BEFREE Resistance to thyrotropin (TSH) (RTSH; defined by elevated TSH and a normal or hypoplastic thyroid gland) can be caused by mutations in genes encoding the TSH receptor and PAX8, and it has been linked to a locus on chromosome 15. 27821020 2017
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.100 Biomarker disease BEFREE In contrast, pseudohypoparathyroidism type Ib (PHP1B) is characterized mostly by resistance to PTH and often mild TSH resistance, usually without AHO features. 28711660 2017
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.100 Biomarker disease BEFREE Heterozygous mice that inherited the disruption maternally (-m/+) exhibited PTH and TSH resistance, whereas those with paternal inheritance (+/-p) had normal hormone responsiveness. 16099856 2005
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.100 Biomarker disease BEFREE In conclusion, we report that in addition to PTH and TSH resistance, patients with PHP Ia display variable degrees of GHRH resistance, consistent with Gs alpha imprinting in human pituitary. 12970263 2003
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.100 Biomarker disease BEFREE We sought to identify the molecular defect in four unrelated patients who were thought to have PHP-Ia because of PTH and TSH resistance and mild AHO features. 17405843 2007
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.100 Biomarker disease BEFREE Alternatively, PHPIb patients predominantly have PTH and sometimes TSH resistance but do not present with AHO features. 22300135 2012
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.100 GeneticVariation disease BEFREE This mutation was also found in the mother of this patient who was also noted to have short stature, obesity, brachydactyly and non progressive osteoma cutis, but no hormone resistance.We report a novel heterozygous mutation causing PHP1A with PTH and TSH resistance and AHO which has not been described previously. 21274302 2009
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.100 Biomarker disease BEFREE Finally, besides PTH deficiency, hypocalcemia can be due to PTH resistance in pseudohypoparathyroidism; when hormone resistance is generalized, patients can suffer from hypothyroidism due to TSH resistance. 28648505 2017
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.100 Biomarker disease BEFREE PHP type Ib (PHP-Ib), usually defined by isolated renal resistance to PTH and sometimes mild TSH resistance, is due to a maternal loss of GNAS exon A/B methylation, leading to decreased Galphas expression in specific tissues. 18182455 2008
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.100 Biomarker disease BEFREE Laboratory evaluation revealed PTH and TSH resistance. 21274345 2010
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.100 Biomarker disease BEFREE One patient has mild brachydactyly but no endocrinopathy, whereas the other manifests brachydactyly, obesity, and target tissue resistance to thyrotropin and parathyroid hormone (PTH). 11092390 2000
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
0.010 Biomarker disease BEFREE This study was undertaken to test the usefulness of SHBG determinations to define the thyroid status in two hyperthyroxinemic states: thyroid hormone resistance (THR) and familial dysalbuminemic hyperthyroxinemia (FDH). 3084540 1986
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
0.030 GeneticVariation disease BEFREE Thus, mutations in MCT8 represent a novel mechanism for the pathogenesis of thyroid hormone resistance. 18174701 2007