Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 Biomarker disease BEFREE Laboratory evaluation revealed PTH and TSH resistance. 21274345 2010
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 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 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 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 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