TULP1, TUB like protein 1, 7287

N. diseases: 80; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838603
Disease: Retinitis Pigmentosa 14
Retinitis Pigmentosa 14 		0.910 GeneticVariation disease UNIPROT Identification of tubby and tubby-like protein 1 as eat-me signals by phage display. 19837063 2010
CUI: C1838603
Disease: Retinitis Pigmentosa 14
Retinitis Pigmentosa 14 		0.910 GeneticVariation disease UNIPROT Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. 17620573 2007
CUI: C1838603
Disease: Retinitis Pigmentosa 14
Retinitis Pigmentosa 14 		0.910 GeneticVariation disease UNIPROT A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. 15557452 2004
CUI: C1838603
Disease: Retinitis Pigmentosa 14
Retinitis Pigmentosa 14 		0.910 Biomarker disease MGD A role for the Tubby-like protein 1 in rhodopsin transport. 11481257 2001
CUI: C1838603
Disease: Retinitis Pigmentosa 14
Retinitis Pigmentosa 14 		0.910 Biomarker disease MGD Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene. 10607826 2000
CUI: C1838603
Disease: Retinitis Pigmentosa 14
Retinitis Pigmentosa 14 		0.910 GeneticVariation disease UNIPROT Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. 9462750 1998
CUI: C1838603
Disease: Retinitis Pigmentosa 14
Retinitis Pigmentosa 14 		0.910 GeneticVariation disease UNIPROT Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa. 9660588 1998
CUI: C1838603
Disease: Retinitis Pigmentosa 14
Retinitis Pigmentosa 14 		0.910 Biomarker disease BEFREE TULP1 and TULP2 map within the minimal intervals identified for retinitis pigmentosa 14 on chromosome 6p21.3 and cone-rod dystrophy on chromosome 19q13.1. 9096357 1997
CUI: C1838603
Disease: Retinitis Pigmentosa 14
Retinitis Pigmentosa 14 		0.910 CausalMutation disease CLINVAR
CUI: C1838603
Disease: Retinitis Pigmentosa 14
Retinitis Pigmentosa 14 		0.910 Biomarker disease GENOMICS_ENGLAND
CUI: C1838603
Disease: Retinitis Pigmentosa 14
Retinitis Pigmentosa 14 		0.910 Biomarker disease CTD_human
CUI: C1838603
Disease: Retinitis Pigmentosa 14
Retinitis Pigmentosa 14 		0.910 Biomarker disease GENOMICS_ENGLAND
CUI: C1838603
Disease: Retinitis Pigmentosa 14
Retinitis Pigmentosa 14 		0.910 Biomarker disease GENOMICS_ENGLAND
CUI: C3151206
Disease: LEBER CONGENITAL AMAUROSIS 15
LEBER CONGENITAL AMAUROSIS 15 		0.700 GeneticVariation disease UNIPROT Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration. 17962469 2007
CUI: C3151206
Disease: LEBER CONGENITAL AMAUROSIS 15
LEBER CONGENITAL AMAUROSIS 15 		0.700 GeneticVariation disease UNIPROT Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. 15024725 2004
CUI: C3151206
Disease: LEBER CONGENITAL AMAUROSIS 15
LEBER CONGENITAL AMAUROSIS 15 		0.700 Biomarker disease CTD_human
CUI: C3151206
Disease: LEBER CONGENITAL AMAUROSIS 15
LEBER CONGENITAL AMAUROSIS 15 		0.700 CausalMutation disease CLINVAR
CUI: C3151206
Disease: LEBER CONGENITAL AMAUROSIS 15
LEBER CONGENITAL AMAUROSIS 15 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3151206
Disease: LEBER CONGENITAL AMAUROSIS 15
LEBER CONGENITAL AMAUROSIS 15 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3151206
Disease: LEBER CONGENITAL AMAUROSIS 15
LEBER CONGENITAL AMAUROSIS 15 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		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
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.660 GermlineCausalMutation disease ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757 2015
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		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
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		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
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		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