Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. 27848077

2017
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. 27479843

2016
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications. 26777411

2016
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR The chromatin remodeller CHD8 is required for E2F-dependent transcription activation of S-phase genes. 24265227

2014
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Recurrent de novo mutations implicate novel genes underlying simplex autism risk. 25418537

2014
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR TRIP12 and UBR5 suppress spreading of chromatin ubiquitylation at damaged chromosomes. 22884692

2012
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR De novo gene disruptions in children on the autistic spectrum. 22542183

2012
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. 22511880

2012
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. 21784246

2011
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR The E3 ubiquitin ligase activity of Trip12 is essential for mouse embryogenesis. 22028794

2011
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Transcription-independent ARF regulation in oncogenic stress-mediated p53 responses. 20208519

2010
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR MutationTaster evaluates disease-causing potential of sequence alterations. 20676075

2010
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation. 18822396

2009
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR The HECT domain of TRIP12 ubiquitinates substrates of the ubiquitin fusion degradation pathway. 19028681

2009
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. 17940072

2008
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. 18252223

2008
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR The ubiquitin system. 9759494

1998