Gene: TRIP12 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553704696
rs1553704696
TRIP12
G 0.700 CausalMutation CLINVAR Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. 28251352

2017
dbSNP: rs1553704696
rs1553704696
TRIP12
G 0.700 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017
dbSNP: rs1553704696
rs1553704696
TRIP12
G 0.700 CausalMutation CLINVAR Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. 27848077

2017
dbSNP: rs1553704696
rs1553704696
TRIP12
G 0.700 CausalMutation CLINVAR Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. 27479843

2016
dbSNP: rs1553704696
rs1553704696
TRIP12
G 0.700 CausalMutation CLINVAR Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications. 26777411

2016
dbSNP: rs1553704696
rs1553704696
TRIP12
G 0.700 CausalMutation CLINVAR The chromatin remodeller CHD8 is required for E2F-dependent transcription activation of S-phase genes. 24265227

2014
dbSNP: rs1553704696
rs1553704696
TRIP12
G 0.700 CausalMutation CLINVAR Recurrent de novo mutations implicate novel genes underlying simplex autism risk. 25418537

2014
dbSNP: rs1553704696
rs1553704696
TRIP12
G 0.700 CausalMutation CLINVAR Response to comment on: Draznin et al. Pathways to quality inpatient management of hyperglycemia and diabetes: a call to action. Diabetes Care 2013;36:1807-1814. 24265389

2013
dbSNP: rs1553704696
rs1553704696
TRIP12
G 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1553704696
rs1553704696
TRIP12
G 0.700 CausalMutation CLINVAR De novo gene disruptions in children on the autistic spectrum. 22542183

2012
dbSNP: rs1553704696
rs1553704696
TRIP12
G 0.700 CausalMutation CLINVAR Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. 22511880

2012
dbSNP: rs1553704696
rs1553704696
TRIP12
G 0.700 CausalMutation CLINVAR TRIP12 and UBR5 suppress spreading of chromatin ubiquitylation at damaged chromosomes. 22884692

2012
dbSNP: rs1553704696
rs1553704696
TRIP12
G 0.700 CausalMutation CLINVAR FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. 21784246

2011
dbSNP: rs1553704696
rs1553704696
TRIP12
G 0.700 CausalMutation CLINVAR The E3 ubiquitin ligase activity of Trip12 is essential for mouse embryogenesis. 22028794

2011
dbSNP: rs1553704696
rs1553704696
TRIP12
G 0.700 CausalMutation CLINVAR Transcription-independent ARF regulation in oncogenic stress-mediated p53 responses. 20208519

2010
dbSNP: rs1553704696
rs1553704696
TRIP12
G 0.700 CausalMutation CLINVAR MutationTaster evaluates disease-causing potential of sequence alterations. 20676075

2010
dbSNP: rs1553704696
rs1553704696
TRIP12
G 0.700 CausalMutation CLINVAR The HECT domain of TRIP12 ubiquitinates substrates of the ubiquitin fusion degradation pathway. 19028681

2009
dbSNP: rs1553704696
rs1553704696
TRIP12
G 0.700 CausalMutation CLINVAR Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation. 18822396

2009
dbSNP: rs1553704696
rs1553704696
TRIP12
G 0.700 CausalMutation CLINVAR The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. 17940072

2008
dbSNP: rs1553704696
rs1553704696
TRIP12
G 0.700 CausalMutation CLINVAR Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. 18252223

2008
dbSNP: rs1553704696
rs1553704696
TRIP12
G 0.700 CausalMutation CLINVAR The ubiquitin system. 9759494

1998