Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Acth-Independent Macronodular Adrenal Hyperplasia
0.700 SomaticCausalMutation disease ORPHANET Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. 12727968 2003
Acth-Independent Macronodular Adrenal Hyperplasia
0.700 GeneticVariation disease UNIPROT Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. 12727968 2003
Acth-Independent Macronodular Adrenal Hyperplasia
0.700 Biomarker disease GENOMICS_ENGLAND A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism. 9328353 1997
Acth-Independent Macronodular Adrenal Hyperplasia
0.700 Biomarker disease CTD_human
Acth-Independent Macronodular Adrenal Hyperplasia
0.700 CausalMutation disease CLINVAR