DisGeNET - a database of gene-disease associations

TRIP12, thyroid hormone receptor interactor 12, 9320

N. diseases: 81; N. variants: 18

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1553602821

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C4540324
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 49

0.800

GeneticVariation

UNIPROT

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.

27848077

2017

dbSNP:

rs1553602821

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C4540324
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 49

0.800

GeneticVariation

UNIPROT

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:

rs1553602821

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C4540324
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 49

0.800

CausalMutation

CLINVAR

dbSNP:

rs17324331

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C0205682
Disease:

Waist-Hip Ratio

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

30239722

2019

dbSNP:

rs517261

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C0042834
Disease:

Vital capacity

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs6720868

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C1305855
Disease:

Body mass index

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

30239722

2019

dbSNP:

rs7592697

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C0017654
Disease:

Glomerular Filtration Rate

0.700

GeneticVariation

GWASCAT

A catalog of genetic loci associated with kidney function from analyses of a million individuals.

31152163

2019

dbSNP:

rs1044822

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

30224653

2018

dbSNP:

rs1300458163

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C4540324
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 49

0.700

GeneticVariation

UNIPROT

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.

27848077

2017

dbSNP:

rs1300458163

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C4540324
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 49

0.700

GeneticVariation

UNIPROT

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

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C0432072
Disease:

Dysmorphic features

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

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Prevalence and architecture of de novo mutations in developmental disorders.

28135719

2017

dbSNP:

rs1553704696

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C0026827
Disease:

Muscle hypotonia

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

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Prevalence and architecture of de novo mutations in developmental disorders.

28135719

2017

dbSNP:

rs1553704696

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C0026827
Disease:

Muscle hypotonia

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

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C0432072
Disease:

Dysmorphic features

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:

rs373429636

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C4540324
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 49

0.700

GeneticVariation

UNIPROT

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.

27848077

2017

dbSNP:

rs373429636

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C4540324
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 49

0.700

GeneticVariation

UNIPROT

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:

rs866079762

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C4540324
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 49

0.700

GeneticVariation

UNIPROT

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.

27848077

2017

dbSNP:

rs866079762

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C4540324
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 49

0.700

GeneticVariation

UNIPROT

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

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications.

26777411

2016

dbSNP:

rs1553704696

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

27479843

2016

dbSNP:

rs1553704696

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

27479843

2016

dbSNP:

rs1553704696

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications.

26777411

2016

dbSNP:

rs1553704696

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Recurrent de novo mutations implicate novel genes underlying simplex autism risk.

25418537

2014