OSBPL2, oxysterol binding protein like 2, 9885

N. diseases: 7; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.320 GeneticVariation disease BEFREE Based on this study, OSBPL2 was identified as an excellent novel candidate gene for autosomal dominant nonsyndromic hearing loss; this study is the first to implicate OSBPL2 mutations in autosomal dominant nonsyndromic hearing loss. 25077649 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.320 GeneticVariation disease BEFREE Oxysterol-binding protein like 2 (OSBPL2) was identified as a novel causal gene for autosomal dominant nonsyndromic hearing loss. 31427568 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.100 GeneticVariation phenotype GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
0.010 GeneticVariation group BEFREE The dual phenotypes of progressive HL and hypercholesterolaemia resembled in OSBPL2-disrupted pigs confirmed the implication of OSBPL2 mutation in nonsydromic hearing loss (NSHL) and contributed to the potential linkage between auditory dysfunction and dyslipidaemia/hypercholesterolaemia. 31451425 2019
CUI: C4084712
Disease: DEAFNESS, AUTOSOMAL DOMINANT 67
DEAFNESS, AUTOSOMAL DOMINANT 67
0.600 Biomarker disease GENOMICS_ENGLAND Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. 9872452 1998
CUI: C4084712
Disease: DEAFNESS, AUTOSOMAL DOMINANT 67
DEAFNESS, AUTOSOMAL DOMINANT 67
0.600 Biomarker disease CTD_human
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.320 Biomarker disease CLINGEN Based on this study, OSBPL2 was identified as an excellent novel candidate gene for autosomal dominant nonsyndromic hearing loss; this study is the first to implicate OSBPL2 mutations in autosomal dominant nonsyndromic hearing loss. 25077649 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.320 Biomarker disease CLINGEN OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). 25759012 2015
Sensorineural Hearing Loss (disorder)
0.100 Biomarker disease HPO
CUI: C0040264
Disease: Tinnitus
Tinnitus
0.100 Biomarker phenotype HPO
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.010 Biomarker disease BEFREE The dual phenotypes of progressive HL and hypercholesterolaemia resembled in OSBPL2-disrupted pigs confirmed the implication of OSBPL2 mutation in nonsydromic hearing loss (NSHL) and contributed to the potential linkage between auditory dysfunction and dyslipidaemia/hypercholesterolaemia. 31451425 2019
CUI: C4084712
Disease: DEAFNESS, AUTOSOMAL DOMINANT 67
DEAFNESS, AUTOSOMAL DOMINANT 67
0.600 CausalMutation disease CLINVAR