MED7, mediator complex subunit 7, 9443

N. diseases: 8; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.100 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 AlteredExpression disease BEFREE Higher MED7 protein expression was associated with improved BC-specific survival within the whole cohort and ER+/luminal subgroup. 29588513 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 AlteredExpression group BEFREE High MED7 mRNA and protein expression was associated with good prognostic factors: low grade, smaller tumour size, good NPI, positive hormone receptor status (p < 0.001), and negative LVI (p = 0.04) status. 29588513 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 AlteredExpression disease BEFREE Higher MED7 protein expression was associated with improved BC-specific survival within the whole cohort and ER+/luminal subgroup. 29588513 2018
CUI: C3469605
Disease: PSEUDOHYPOALDOSTERONISM, TYPE IID
PSEUDOHYPOALDOSTERONISM, TYPE IID 		0.010 Biomarker disease BEFREE The majority of these are derived from in vitro data, but recently the Kurz group (Schumacher FR, Siew K, Zhang J, Johnson C, Wood N, Cleary SE, Al Maskari RS, Ferryman JT, Hardege I, Figg NL, Enchev R, Knebel A, O'Shaughnessy KM, Kurz T. EMBO Mol Med 7: 1285-1306, 2015) described the first mouse model of CUL3-∆9-mediated FHHt. 29361671 2018
CUI: C4288936
Disease: Hyperkalemic Mineralocorticoid Resistance
Hyperkalemic Mineralocorticoid Resistance 		0.010 Biomarker disease BEFREE The majority of these are derived from in vitro data, but recently the Kurz group (Schumacher FR, Siew K, Zhang J, Johnson C, Wood N, Cleary SE, Al Maskari RS, Ferryman JT, Hardege I, Figg NL, Enchev R, Knebel A, O'Shaughnessy KM, Kurz T. EMBO Mol Med 7: 1285-1306, 2015) described the first mouse model of CUL3-∆9-mediated FHHt. 29361671 2018
CUI: C0001430
Disease: Adenoma
Adenoma 		0.010 AlteredExpression group BEFREE Data obtained by gene array and semi-quantitative RT-PCR showed an increase in the expression of Sp3 and CRSP9 (co-regulator of Sp1 transcription factor, subunit 9) in the adrenal adenomas or bilateral macronodular hyperplasias of patients with GIP-dependent Cushing's syndrome; they were, however, also increased in some patients with non-GIP-dependent cortisol-secreting adenomas or with ACTH-dependent Cushing's disease. 16087722 2005
CUI: C0221406
Disease: Pituitary-dependent Cushing's disease
Pituitary-dependent Cushing's disease 		0.010 AlteredExpression disease BEFREE Data obtained by gene array and semi-quantitative RT-PCR showed an increase in the expression of Sp3 and CRSP9 (co-regulator of Sp1 transcription factor, subunit 9) in the adrenal adenomas or bilateral macronodular hyperplasias of patients with GIP-dependent Cushing's syndrome; they were, however, also increased in some patients with non-GIP-dependent cortisol-secreting adenomas or with ACTH-dependent Cushing's disease. 16087722 2005