Disease: Hypoparathyroidism familial isolated ×
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