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TULP1 and retinitis pigmentosa are reported together in 3 articles.
Gene
TULP1
- HGNC
- HGNC:12423
6articles
6mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Retinitis pigmentosa
88articles
88mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
3 records shown · first 60Persistent Bilateral Optic Disc Swelling in Non-Syndromic Retinitis Pigmentosa: A Case Report.
PMID 41980014 | PMCID PMC13094384 | DOI 10.12659/AJCR.951708 · The American journal of case reports · 2026 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TULP1 | “We present a case with unusual findings of bilateral disc swelling in non-syndromic RP caused by TULP1 mutation.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinitis pigmentosa | “Persistent Bilateral Optic Disc Swelling in Non-Syndromic Retinitis Pigmentosa: A Case Report.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | hypertension | “Magnetic resonance imaging and arteriography/venography showed bilateral optic nerve head swelling without enhancement or radiographic signs of intracranial hypertension.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.1256G>A | “Whole-exome sequencing revealed a homozygous c.1256G>A p.(Arg419GIn) variant in the tubby-line protein 1 gene (TULP1).” | 0.95 | hgvs_regex_v1 |
Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa.
PMID 33441055 | DOI 10.1080/13816810.2020.1867754 · Ophthalmic genetics · 2021 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TULP1 | “Six mutations, including three novel mutations, were found in CRB1, CNGB1, RPGR, and TULP1.Conclusions: Coats-like features in arRP range from retinal telangiectasis to VPTs with extensive ERD and occur predominantly in the inferotemporal retinal periphery.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinitis pigmentosa | “Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | CRB1 | “Six mutations, including three novel mutations, were found in CRB1, CNGB1, RPGR, and TULP1.Conclusions: Coats-like features in arRP range from retinal telangiectasis to VPTs with extensive ERD and occur predominantly in the inferotemporal retinal periphery.” | 0.98 | hgnc_dict_v1 |
| gene | CNGB1 | “Six mutations, including three novel mutations, were found in CRB1, CNGB1, RPGR, and TULP1.Conclusions: Coats-like features in arRP range from retinal telangiectasis to VPTs with extensive ERD and occur predominantly in the inferotemporal retinal periphery.” | 0.98 | hgnc_dict_v1 |
Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.
PMID 24547928 | DOI 10.3109/13816810.2014.886269 · Ophthalmic genetics · 2015 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TULP1 | “Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinitis pigmentosa | “Analysis of variants in the exome sequence data revealed a novel homozygous nonsense mutation (c.1081C > T, p.Arg361*) in TULP1, a gene with roles in photoreceptor function where mutations were previously shown to cause LCA and retinitis pigmentosa.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | Leber congenital amaurosis | “Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | retinal dystrophy | “BACKGROUND: Leber congenital amaurosis (LCA) is a severe form of retinal dystrophy with marked underlying genetic heterogeneity.” | 0.98 | phenotype_alias_lexicon_v2 |