GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Disease: Pseudopseudohypoparathyroidism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		1.000 CausalMutation disease CLINVAR A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation. 9727013 1998
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		1.000 Biomarker disease CTD_human An inherited mutation associated with functional deficiency of the alpha-subunit of the guanine nucleotide-binding protein Gs in pseudo- and pseudopseudohypoparathyroidism. 9506752 1998
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		1.000 GeneticVariation disease BEFREE GNAS1 mutations were not detected in any of the PPHP only families. 9876352 1998
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		1.000 GermlineCausalMutation disease ORPHANET
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		1.000 GeneticVariation disease CLINVAR