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: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
0.120 GeneticVariation disease BEFREE A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula. 25342276 2015
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
0.120 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: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
0.120 Biomarker disease HPO