Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		0.720 Biomarker disease GENOMICS_ENGLAND Abstracts of the 2017 International Workshop on Musculoskeletal and Neuronal Interactions. 29199197 2017
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		0.720 GeneticVariation disease BEFREE Familial isolated hypoparathyroidism (FIH) is a genetically heterogeneous disorder due to mutations of the calcium-sensing receptor (CASR), glial cells missing-2 (GCM2), guanine nucleotide binding protein α11 (GNA11), or parathyroid hormone (PTH) genes. 28938448 2017
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		0.720 GeneticVariation disease UNIPROT A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism. 23155703 2012
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		0.720 CausalMutation disease CLINVAR A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism. 23155703 2012
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		0.720 GeneticVariation disease UNIPROT A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism. 20463099 2010
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		0.720 GeneticVariation disease UNIPROT Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism. 20190276 2010
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		0.720 Biomarker disease GENOMICS_ENGLAND Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism. 20190276 2010
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		0.720 GeneticVariation disease UNIPROT Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism. 15863676 2005
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		0.720 GeneticVariation disease UNIPROT GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone. 15728199 2005
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		0.720 GeneticVariation disease BEFREE GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone. 15728199 2005
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		0.720 Biomarker disease CTD_human
CUI: C4479229
Disease: HYPERPARATHYROIDISM 4
HYPERPARATHYROIDISM 4 		0.600 Biomarker disease GENOMICS_ENGLAND Abstracts of the 2017 International Workshop on Musculoskeletal and Neuronal Interactions. 29199197 2017
CUI: C4479229
Disease: HYPERPARATHYROIDISM 4
HYPERPARATHYROIDISM 4 		0.600 GeneticVariation disease UNIPROT GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism. 27745835 2016
CUI: C4479229
Disease: HYPERPARATHYROIDISM 4
HYPERPARATHYROIDISM 4 		0.600 Biomarker disease CTD_human
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.400 Biomarker disease BEFREE He had normal hemoglobin, electroencephalogram, and skeletal survey, with negative autoantibodies to alpha and omega interferons and negative genetic testing for Glial Cell Missing 2 (GCM2) and calcium-sensing receptors (CaSRs) excluding known causes of hypoparathyroidism. 28422826 2017
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.400 Biomarker disease BEFREE Gcm2 protein was not detected after transfection, suggesting that complete lack of Gcm2 action accounts for severe hypoparathyroidism. 23155703 2012
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.400 AlteredExpression disease BEFREE GCMB is a parathyroid-specific transcription factor, which causes hypoparathyroidism when inactivated on both parental alleles or when a dominant-negative, heterozygous mutation is present. 21642377 2011
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.400 GeneticVariation disease BEFREE Thus, our results, which expand the spectrum of hypoparathyroidism-associated GCMB mutations, help elucidate the molecular mechanisms underlying DNA-binding and transactivation that are required for this parathyroid-specific transcription factor. 20190276 2010
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.400 GeneticVariation disease BEFREE Presence and significance of a R110W mutation in the DNA-binding domain of GCM2 gene in patients with isolated hypoparathyroidism and their family members. 19940031 2010
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.400 GeneticVariation disease BEFREE We describe the GCM2 mutations in two families with hypoparathyroidism, one inherited in an autosomal recessive fashion and the other in an autosomal dominant manner. 18712808 2009
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.400 GeneticVariation disease LHGDN Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism. 18583467 2008
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.400 GeneticVariation disease BEFREE Analysis of the GCM2 gene in isolated hypoparathyroidism: a molecular and biochemical study. 18182452 2008
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.400 GeneticVariation disease LHGDN Analysis of the GCM2 gene in isolated hypoparathyroidism: a molecular and biochemical study. 18182452 2008
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.400 GeneticVariation disease BEFREE Two mutations (R47L, G63S) in the DNA binding domain of the parathyroid-specific transcription factor GCMB have been reported to be linked to hypoparathyroidism. 16697534 2006
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.400 GeneticVariation disease BEFREE We report a second family with isolated hypoparathyroidism and a GCMB mutation. 15728199 2005