AGBL5, ATP/GTP binding protein like 5, 60509

N. diseases: 35; N. variants: 3
Disease: RETINITIS PIGMENTOSA 75 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310759
Disease: RETINITIS PIGMENTOSA 75
RETINITIS PIGMENTOSA 75 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa. 27842159 2016
CUI: C4310759
Disease: RETINITIS PIGMENTOSA 75
RETINITIS PIGMENTOSA 75 		0.700 GeneticVariation disease UNIPROT Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa. 27842159 2016
CUI: C4310759
Disease: RETINITIS PIGMENTOSA 75
RETINITIS PIGMENTOSA 75 		0.700 GeneticVariation disease UNIPROT Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. 26355662 2016
CUI: C4310759
Disease: RETINITIS PIGMENTOSA 75
RETINITIS PIGMENTOSA 75 		0.700 GeneticVariation disease UNIPROT Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing. 27764769 2016
CUI: C4310759
Disease: RETINITIS PIGMENTOSA 75
RETINITIS PIGMENTOSA 75 		0.700 GeneticVariation disease UNIPROT Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families. 26720455 2015
CUI: C4310759
Disease: RETINITIS PIGMENTOSA 75
RETINITIS PIGMENTOSA 75 		0.700 Biomarker disease CTD_human
CUI: C4310759
Disease: RETINITIS PIGMENTOSA 75
RETINITIS PIGMENTOSA 75 		0.700 CausalMutation disease CLINVAR