Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. | 29159987 | 2018 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | UniProt: the universal protein knowledgebase. | 27899622 | 2017 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes. | 28588821 | 2017 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. | 28371282 | 2017 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. | 28645799 | 2017 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | Redefining the MED13L syndrome. | 25758992 | 2015 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | Further confirmation of the MED13L haploinsufficiency syndrome. | 24781760 | 2015 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. | 25712080 | 2015 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | De novo mutations in moderate or severe intellectual disability. | 25356899 | 2014 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency. | 25137640 | 2014 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | Genome sequencing identifies major causes of severe intellectual disability. | 24896178 | 2014 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. | 25167861 | 2014 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. | 24267886 | 2013 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. | 23403903 | 2013 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). | 14638541 | 2003 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis]. | 5167861 | 1971 |