TBL1X, transducin beta like 1 X-linked, 6907

N. diseases: 34; N. variants: 1
Disease: Albinism, Ocular ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		0.020 Biomarker disease BEFREE However, our study cannot claim a causative relationship and more convincing evidence is needed before the hypothesis can be accepted that TBL1X could be involved in late-onset sensorineural hearing loss and that ocular albinism with late-onset sensorineural hearing loss can present itself as a contiguous gene deletion/microdeletion syndrome. 30160833 2018
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		0.020 GeneticVariation disease BEFREE This deletion encompasses a gene known to cause ocular albinism (GPR143), as well as partial deletion of two other genes, TBL1X and SHROOM2. 24478262 2014