MED18, mediator complex subunit 18, 54797

N. diseases: 24; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		0.020 GeneticVariation disease BEFREE To address this, we propose an updated set of criteria that accurately captures the multisystemic nature of the dermatosparaxis type of EDS.Genet Med 18 9, 882-891. 26765342 2016
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		0.020 GeneticVariation disease BEFREE These data may be of value in guiding future clinical pathways for genetic diagnosis in EDS.Genet Med 18 11, 1119-1127. 27011056 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE Transient knockdown of MED18 in SNHG3-deficient cells completely rescued the tumor suppressive phenotypes in GC cells. 31534128 2019
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.010 Biomarker disease BEFREE Testing NOTCH1 for an early diagnosis in LS-CHD/RS-CHD/CTD/TAA is warranted.Genet Med 18 9, 914-923. 26820064 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 GeneticVariation disease BEFREE A Web application can be used to obtain BC risks in clinical practice (http://ccge.medschl.cam.ac.uk/boadicea/).Genet Med 18 12, 1190-1198. 27464310 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE This unusual pattern of cancer occurrence may help understanding carcinogenesis in the general population.Genet Med 18 11, 1151-1157. 27031084 2016
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.010 Biomarker disease BEFREE We propose that CF be more thoroughly investigated on the continent to ensure that the public health needs of African CF patients-both those in Africa and those of African descent living elsewhere-are met.Genet Med 18 7, 653-662. 26656651 2016
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.010 GeneticVariation disease BEFREE We suggest that UPD(20)mat can be regarded as a new imprinting disorder and its identification requires specialized molecular testing, which should be performed in patients with early-onset idiopathic isolated growth failure.Genet Med 18 4, 309-315. 26248010 2016
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.010 GeneticVariation disease BEFREE The tetradecaplex marker assay can be performed directly on single cells or after whole-genome amplification, thus supporting its use in FXS PGD either as a standalone linkage-based assay or as a complement to FMR1 mutation detection.Genet Med 18 9, 869-875. 26741412 2016
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		0.010 GeneticVariation disease BEFREE These results show that next-generation sequencing, in combination with the detection of biochemical and clinical hallmarks, provides an accurate, high-throughput means of making genetic diagnoses of GSD and related diseases.Genet Med 18 10, 1037-1043. 26913919 2016
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.010 Biomarker disease BEFREE RIT1 is one of the major genes for NS.The RIT1-associated phenotype differs gradually from other NS subtypes, with a high prevalence of cardiovascular manifestations, especially hypertrophic cardiomyopathy, and lymphatic problems.Genet Med 18 12, 1226-1234. 27101134 2016
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.010 GeneticVariation disease BEFREE With the limitation that the fracture data were self-reported in this cohort, these results suggest that CD should be performed only for other maternal or fetal indications, not for the sole purpose of fracture prevention in OI.Genet Med 18 6, 570-576. 26426884 2016
CUI: C0029438
Disease: Massive Osteolyses
Massive Osteolyses 		0.010 GeneticVariation disease BEFREE These results show that next-generation sequencing, in combination with the detection of biochemical and clinical hallmarks, provides an accurate, high-throughput means of making genetic diagnoses of GSD and related diseases.Genet Med 18 10, 1037-1043. 26913919 2016
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 Biomarker disease BEFREE Our findings indicate that mutations in JMJD1C contribute to the development of Rett syndrome and intellectual disability.Genet Med 18 1, 378-385. 26181491 2016
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.010 Biomarker phenotype BEFREE It seems to be more common than other rare metabolic diseases, and early identification may allow specific treatment of hyperammonemia and ultimately prevent neurologic sequelae.Genet Med 18 10, 991-1000. 26913920 2016
CUI: C0279068
Disease: Childhood Solid Neoplasm
Childhood Solid Neoplasm 		0.010 GeneticVariation phenotype BEFREE This section deals specifically with the standards and guidelines applicable to lymph node and solid tumor chromosome analysis.Genet Med 18 6, 643-648. 27124786 2016
CUI: C0280099
Disease: Adult Solid Neoplasm
Adult Solid Neoplasm 		0.010 GeneticVariation group BEFREE This section deals specifically with the standards and guidelines applicable to lymph node and solid tumor chromosome analysis.Genet Med 18 6, 643-648. 27124786 2016
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		0.010 GeneticVariation phenotype BEFREE This section deals specifically with the standards and guidelines applicable to lymph node and solid tumor chromosome analysis.Genet Med 18 6, 643-648. 27124786 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 GeneticVariation phenotype BEFREE This unusual pattern of cancer occurrence may help understanding carcinogenesis in the general population.Genet Med 18 11, 1151-1157. 27031084 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 GeneticVariation disease BEFREE A Web application can be used to obtain BC risks in clinical practice (http://ccge.medschl.cam.ac.uk/boadicea/).Genet Med 18 12, 1190-1198. 27464310 2016
CUI: C0878787
Disease: Growth failure
Growth failure 		0.010 GeneticVariation phenotype BEFREE We suggest that UPD(20)mat can be regarded as a new imprinting disorder and its identification requires specialized molecular testing, which should be performed in patients with early-onset idiopathic isolated growth failure.Genet Med 18 4, 309-315. 26248010 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 Biomarker group BEFREE This unusual pattern of cancer occurrence may help understanding carcinogenesis in the general population.Genet Med 18 11, 1151-1157. 27031084 2016
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm 		0.010 GeneticVariation disease BEFREE The high frequency of positive results in a wide range of cancer genes, including those of high penetrance and with clinical care guidelines, underscores both the genetic heterogeneity of hereditary cancer and the usefulness of multigene panels over genetic tests of one or two genes.Genet Med 18 8, 823-832. 26681312 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 GeneticVariation group BEFREE Our findings indicate that mutations in JMJD1C contribute to the development of Rett syndrome and intellectual disability.Genet Med 18 1, 378-385. 26181491 2016
CUI: C4275029
Disease: Maternal uniparental disomy of chromosome 20
Maternal uniparental disomy of chromosome 20 		0.010 Biomarker disease BEFREE We suggest that UPD(20)mat can be regarded as a new imprinting disorder and its identification requires specialized molecular testing, which should be performed in patients with early-onset idiopathic isolated growth failure.Genet Med 18 4, 309-315. 26248010 2016