Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.040 Biomarker disease BEFREE We also assessed whether immunohistochemical staining for AIP (AIP-IHC) in somatotropinomas was associated with somatostatin analogs (SSA) response. 30822274 2019
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.040 Biomarker disease BEFREE In earlier work, we described defects in mitochondrial functions in cultured skin fibroblasts from patients with acute intermittent porphyria [AIP]. 31153822 2019
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.040 GeneticVariation disease BEFREE Clinical evidence of AIP attacks was found in 10% of child AIP gene carriers; in all cases the first attack occurred before the age of 15 y. 12839285 2003
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.040 GeneticVariation disease BEFREE Carriers and noncarriers of the AIP gene can be distinguished by linkage analysis using three intragenic RFLPs in AIP families. 2303246 1990