DisGeNET - a database of gene-disease associations

TRPS1, transcriptional repressor GATA binding 1, 7227

N. diseases: 248; N. variants: 82

Disease: Trichorhinophalangeal Syndrome, Type III ×

Variant: rs1057518972 ×

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:

rs1057518972

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

CUI:	C1860823
Disease:

Trichorhinophalangeal Syndrome, Type III

0.800

CausalMutation

CLINVAR

A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report.

28468609

2017

dbSNP:

rs1057518972

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

CUI:	C1860823
Disease:

Trichorhinophalangeal Syndrome, Type III

0.800

CausalMutation

CLINVAR

Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation.

24502542

2014

dbSNP:

rs1057518972

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

CUI:	C1860823
Disease:

Trichorhinophalangeal Syndrome, Type III

0.800

CausalMutation

CLINVAR

Tricho-rhino-phalangeal syndrome with supernumerary teeth.

18946009

2008

dbSNP:

rs1057518972

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

CUI:	C1860823
Disease:

Trichorhinophalangeal Syndrome, Type III

0.800

GeneticVariation

UNIPROT