Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.940 CausalMutation CLINVAR Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing. 28170084

2017
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.940 CausalMutation CLINVAR A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report. 28468609

2017
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.940 CausalMutation CLINVAR Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype. 28050602

2017
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.940 CausalMutation CLINVAR Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization. 27826100

2017
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.940 CausalMutation CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986

2015
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.940 CausalMutation CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522

2015
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.940 CausalMutation CLINVAR Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation. 24502542

2014
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.940 CausalMutation CLINVAR Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells. 23451857

2013
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.940 CausalMutation CLINVAR Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency. 22964620

2012
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.940 CausalMutation CLINVAR Tricho-rhino-phalangeal syndrome with supernumerary teeth. 18946009

2008
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.940 CausalMutation CLINVAR Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. 11112658

2001
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.940 GeneticVariation CLINVAR