AGBL5, ATP/GTP binding protein like 5, 60509

N. diseases: 35; N. variants: 3
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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.330 GeneticVariation disease BEFREE WES identified a homozygous frameshift mutation (c.1787_1788del, p.His596Argfs*47) in AGBL5, associated with nonsyndromic RP. 30925032 2019
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.330 Biomarker disease BEFREE Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing. 27764769 2016
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.330 GermlineCausalMutation disease ORPHANET In one family, exome analyses of two affected individuals revealed a homozygous missense mutation (c.883G>A; p.Asp295Asn) in the AGBL5 (Agbl5; CCP5) gene, previously not reported to be associated with RP. 26720455 2015
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.330 GeneticVariation disease BEFREE In one family, exome analyses of two affected individuals revealed a homozygous missense mutation (c.883G>A; p.Asp295Asn) in the AGBL5 (Agbl5; CCP5) gene, previously not reported to be associated with RP. 26720455 2015
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 Biomarker disease HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.100 Biomarker disease HPO
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.100 Biomarker disease HPO
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.100 Biomarker disease HPO
CUI: C0022578
Disease: Keratoconus
Keratoconus 		0.100 Biomarker disease HPO
CUI: C0027092
Disease: Myopia
Myopia 		0.100 Biomarker disease HPO
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease HPO
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.100 Biomarker phenotype HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker disease HPO
CUI: C0030232
Disease: Pallor
Pallor 		0.100 Biomarker phenotype HPO