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

Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		0.700 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: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		0.700 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: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		0.700 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: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		0.700 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: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		0.700 CausalMutation CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522

2015
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		0.700 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: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		0.700 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: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		0.700 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: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		0.700 CausalMutation CLINVAR Tricho-rhino-phalangeal syndrome with supernumerary teeth. 18946009

2008
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		0.700 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: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		0.700 GeneticVariation CLINVAR

Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome 		0.690 CausalMutation CLINVAR

Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.130 GeneticVariation CLINVAR