TULP1, TUB like protein 1, 7287

N. diseases: 80; N. variants: 20
Disease: Retinal Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.130 GeneticVariation group BEFREE The analysis of nuclear candidate genes revealed mutations in NDUF8 (patient with nystagmus), TULP1 (patient with optic neuropathy, nystagmus and retinopathy) and RP2 (patient with retinopathy) genes. 26448634 2016
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.130 GeneticVariation group BEFREE Structure-function relationships in residual foveal cone islands were made in TULP1-RD patients and in other retinopathies considered ciliopathies. 25074776 2014
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.130 GeneticVariation group BEFREE This study provides the first description of FAF and quantitative reflectivity profiles in TULP1-related retinopathy. 17962469 2007
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.130 Biomarker group HPO