Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555247853
rs1555247853
MED13L
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		TGTTCGAG 0.700 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987

2018
dbSNP: rs1555247853
rs1555247853
MED13L
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		TGTTCGAG 0.700 CausalMutation CLINVAR UniProt: the universal protein knowledgebase. 27899622

2017
dbSNP: rs1555247853
rs1555247853
MED13L
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		TGTTCGAG 0.700 CausalMutation CLINVAR MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. 28371282

2017
dbSNP: rs1555247853
rs1555247853
MED13L
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		TGTTCGAG 0.700 CausalMutation CLINVAR Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. 28645799

2017
dbSNP: rs1555247853
rs1555247853
MED13L
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		TGTTCGAG 0.700 CausalMutation CLINVAR Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes. 28588821

2017
dbSNP: rs1555247853
rs1555247853
MED13L
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		TGTTCGAG 0.700 CausalMutation CLINVAR Redefining the MED13L syndrome. 25758992

2015
dbSNP: rs1555247853
rs1555247853
MED13L
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		TGTTCGAG 0.700 CausalMutation CLINVAR Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. 25712080

2015
dbSNP: rs1555247853
rs1555247853
MED13L
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		TGTTCGAG 0.700 CausalMutation CLINVAR Further confirmation of the MED13L haploinsufficiency syndrome. 24781760

2015
dbSNP: rs1555247853
rs1555247853
MED13L
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		TGTTCGAG 0.700 CausalMutation CLINVAR Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency. 25137640

2014
dbSNP: rs1555247853
rs1555247853
MED13L
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		TGTTCGAG 0.700 CausalMutation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014
dbSNP: rs1555247853
rs1555247853
MED13L
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		TGTTCGAG 0.700 CausalMutation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899

2014
dbSNP: rs1555247853
rs1555247853
MED13L
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		TGTTCGAG 0.700 CausalMutation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861

2014
dbSNP: rs1555247853
rs1555247853
MED13L
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		TGTTCGAG 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1555247853
rs1555247853
MED13L
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		TGTTCGAG 0.700 CausalMutation CLINVAR Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. 23403903

2013
dbSNP: rs1555247853
rs1555247853
MED13L
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		TGTTCGAG 0.700 CausalMutation 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
dbSNP: rs1555247853
rs1555247853
MED13L
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		TGTTCGAG 0.700 CausalMutation CLINVAR [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis]. 5167861

1971