DisGeNET - a database of gene-disease associations

Dysmorphic features, C0432072

Variant: rs1555925903 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1555925903

TCF20

0.700

CausalMutation

CLINVAR

Prevalence and architecture of de novo mutations in developmental disorders.

28135719

2017

dbSNP:

rs1555925903

TCF20

0.700

CausalMutation

CLINVAR

De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.

27436265

2016

dbSNP:

rs1555925903

TCF20

0.700

CausalMutation

CLINVAR

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

27479843

2016

dbSNP:

rs1555925903

TCF20

0.700

CausalMutation

CLINVAR

Large-scale discovery of novel genetic causes of developmental disorders.

25533962

2015

dbSNP:

rs1555925903

TCF20

0.700

CausalMutation

CLINVAR

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

25228304

2014

dbSNP:

rs1555925903

TCF20

0.700

CausalMutation

CLINVAR

Discovery of transcription factors and other candidate regulators of neural crest development.

18351660

2008

dbSNP:

rs1555925903

TCF20

0.700

CausalMutation

CLINVAR

Genome-wide atlas of gene expression in the adult mouse brain.

17151600

2007