Gene: TULP1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7287
Gene Symbol: TULP1
TULP1 		0.660 GeneticVariation disease BEFREE Mutations in the gene TULP1 have been associated with two forms of IRDs, early-onset retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA). 26987071 2016
Entrez Id: 7287
Gene Symbol: TULP1
TULP1 		0.660 GermlineCausalMutation disease ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757 2015
Entrez Id: 7287
Gene Symbol: TULP1
TULP1 		0.660 GeneticVariation disease BEFREE Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis. 24547928 2015
Entrez Id: 7287
Gene Symbol: TULP1
TULP1 		0.660 GeneticVariation disease BEFREE This expands the disease spectrum of TULP1 mutations from Leber congenital amaurosis and early-onset retinitis pigmentosa to cone-dominated disease. 23499059 2013
Entrez Id: 7287
Gene Symbol: TULP1
TULP1 		0.660 GeneticVariation disease BEFREE To date, 22 distinct pathogenic mutations of TULP1 have been reported in patients with early-onset RP or Leber congenital amaurosis. 18432314 2008
Entrez Id: 7287
Gene Symbol: TULP1
TULP1 		0.660 GermlineCausalMutation disease ORPHANET Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration. 17962469 2007
Entrez Id: 7287
Gene Symbol: TULP1
TULP1 		0.660 GeneticVariation disease BEFREE Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration. 17962469 2007
Entrez Id: 7287
Gene Symbol: TULP1
TULP1 		0.660 Biomarker disease BEFREE No putative pathogenic sequence changes in TULP1 were observed in North American patients with comparably severe retinal phenotypes, mainly in the diagnostic category of Leber congenital amaurosis. 10440267 1999
Entrez Id: 7287
Gene Symbol: TULP1
TULP1 		0.660 GeneticVariation disease CLINVAR
Entrez Id: 7287
Gene Symbol: TULP1
TULP1 		0.660 Biomarker disease GENOMICS_ENGLAND