DisGeNET - a database of gene-disease associations

TRPS1, transcriptional repressor GATA binding 1, 7227

N. diseases: 248; N. variants: 82

Disease: Trichorhinophalangeal dysplasia type I ×

Variant: rs28939070 ×

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:

rs28939070

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

CUI:	C0432233
Disease:

Trichorhinophalangeal dysplasia type I

0.800

CausalMutation

CLINVAR

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

25792522

2015

dbSNP:

rs28939070

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

CUI:	C0432233
Disease:

Trichorhinophalangeal dysplasia type I

0.800

GeneticVariation

UNIPROT

Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal.

14560312

2004

dbSNP:

rs28939070

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

CUI:	C0432233
Disease:

Trichorhinophalangeal dysplasia type I

0.800

GeneticVariation

CLINVAR