Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Trichorhinophalangeal dysplasia type I
0.940 CausalMutation disease CLINVAR Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing. 28170084 2017
Trichorhinophalangeal dysplasia type I
0.940 CausalMutation disease CLINVAR A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report. 28468609 2017
Trichorhinophalangeal dysplasia type I
0.940 CausalMutation disease CLINVAR Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype. 28050602 2017
Trichorhinophalangeal dysplasia type I
0.940 CausalMutation disease CLINVAR Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization. 27826100 2017
Trichorhinophalangeal dysplasia type I
0.940 CausalMutation disease CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986 2015
Trichorhinophalangeal dysplasia type I
0.940 CausalMutation disease CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522 2015
Trichorhinophalangeal dysplasia type I
0.940 CausalMutation disease CLINVAR Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation. 24502542 2014
Trichorhinophalangeal dysplasia type I
0.940 GeneticVariation disease BEFREE Trichorhinophalangeal syndrome type I (TRPS I) is a rare autosomal dominant syndrome caused by haploinsufficiency of TRPS1 due to point mutations or deletions. 23835950 2013
Trichorhinophalangeal dysplasia type I
0.940 GeneticVariation disease BEFREE Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I. 23510776 2013
Trichorhinophalangeal dysplasia type I
0.940 CausalMutation disease CLINVAR Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells. 23451857 2013
Trichorhinophalangeal dysplasia type I
0.940 CausalMutation disease CLINVAR Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency. 22964620 2012
Trichorhinophalangeal dysplasia type I
0.940 GeneticVariation disease BEFREE Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients. 20394624 2010
Trichorhinophalangeal dysplasia type I
0.940 CausalMutation disease CLINVAR Tricho-rhino-phalangeal syndrome with supernumerary teeth. 18946009 2008
Trichorhinophalangeal dysplasia type I
0.940 GeneticVariation disease UNIPROT Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal. 14560312 2004
Trichorhinophalangeal dysplasia type I
0.940 Biomarker disease MGD Deletion of the GATA domain of TRPS1 causes an absence of facial hair and provides new insights into the bone disorder in inherited tricho-rhino-phalangeal syndromes. 12446778 2002
Trichorhinophalangeal dysplasia type I
0.940 CausalMutation disease CLINVAR Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. 11112658 2001
Trichorhinophalangeal dysplasia type I
0.940 Biomarker disease GENOMICS_ENGLAND Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. 10615131 2000
Trichorhinophalangeal dysplasia type I
0.940 GeneticVariation disease BEFREE Using these clones we identified a novel submicroscopic deletion in a TRPS I patient and refined the proximal border of the minimal TRPS1 gene region by precisely mapping the inversion breakpoint of another patient. 10647898 1999
Trichorhinophalangeal dysplasia type I
0.940 Biomarker disease GENOMICS_ENGLAND
Trichorhinophalangeal dysplasia type I
0.940 Biomarker disease CTD_human
Trichorhinophalangeal dysplasia type I
0.940 GeneticVariation disease CLINVAR