C1QTNF5, C1q and TNF related 5, 114902

N. diseases: 45; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.370 Biomarker disease BEFREE Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration. 12944416 2003
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.370 GeneticVariation disease BEFREE The macular degeneration-linked C1QTNF5 (S163) mutation causes higher-order structural rearrangements. 24531000 2014
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.370 GeneticVariation disease BEFREE All individuals with either LAZ and/or macular degeneration carry the same CTRP5 S163R mutation, which is transmitted in autosomal dominant manner. 16123441 2005
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.370 Biomarker disease BEFREE Crystal structure of the globular domain of C1QTNF5: Implications for late-onset retinal macular degeneration. 22892318 2012
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C4024790
Disease: Adult-onset night blindness
Adult-onset night blindness
0.100 Biomarker disease HPO
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
0.100 Biomarker disease HPO
CUI: C0028754
Disease: Obesity
Obesity
0.060 AlteredExpression disease BEFREE Overweight/obese individuals (BMI ≥ 25 kg/m<sup>2</sup>) showed a lower serum CTRP5 level than lean subjects (BMI < 25 kg/m<sup>2</sup>) in the study population (124.1 (99.12-147.37) vs. 103.9 (79.15-124.25) <i>μ</i>g/L; <i>P</i> < 0.01). 30595692 2018
CUI: C0028754
Disease: Obesity
Obesity
0.060 AlteredExpression disease BEFREE We hypothesized that adipocyte C1QTNF5 expression in subcutaneous (sc) adipose tissue (AT) would correlate with the degree of obesity, systemic CTRP5 serum levels, and early AT and metabolic dysfunction in children. 28239164 2017
CUI: C0028754
Disease: Obesity
Obesity
0.060 AlteredExpression disease BEFREE Adipose expression of CTRP5 was markedly upregulated in obese and diabetic humans and in genetic and dietary models of obesity in rodents. 27143553 2016
CUI: C0028754
Disease: Obesity
Obesity
0.060 Biomarker disease BEFREE Our findings indicated that CTRP5 is a novel promising therapeutic target for obesity and other metabolic diseases. 30717975 2019
CUI: C0028754
Disease: Obesity
Obesity
0.060 Biomarker disease BEFREE As a member of the tumor necrosis factor-α-related protein family, complement-1q tumor necrosis factor-α-related protein isoform 5 (CTRP5) has been found to be associated with obesity and insulin resistance (IR). 31070007 2020
CUI: C0028754
Disease: Obesity
Obesity
0.060 Biomarker disease BEFREE Circulating Serum Myonectin Levels in Obesity and Type 2 Diabetes Mellitus. 31340393 2019
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
0.050 Biomarker disease BEFREE Crystal structure of the globular domain of C1QTNF5: Implications for late-onset retinal macular degeneration. 22892318 2012
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
0.050 GeneticVariation disease BEFREE Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration. 22110650 2011
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
0.050 GeneticVariation disease BEFREE Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5. 16600989 2006
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
0.050 GeneticVariation disease BEFREE All individuals with either LAZ and/or macular degeneration carry the same CTRP5 S163R mutation, which is transmitted in autosomal dominant manner. 16123441 2005
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
0.050 GeneticVariation disease BEFREE The macular degeneration-linked C1QTNF5 (S163) mutation causes higher-order structural rearrangements. 24531000 2014
CUI: C0011847
Disease: Diabetes
Diabetes
0.030 Biomarker disease BEFREE We assessed whether plasma concentrations of three known myokines [myonectin, myostatin, and fibroblast-derived growth factor 21 (FGF-21)] would be associated with direct and indirect indicators of insulin resistance (IR) in individuals who did not have a diagnosis of diabetes. 29445355 2018
CUI: C0011847
Disease: Diabetes
Diabetes
0.030 Biomarker disease BEFREE CTRP5 is likely a marker for type 2 diabetes in humans. 31070007 2020
CUI: C0011847
Disease: Diabetes
Diabetes
0.030 Biomarker disease BEFREE Inhibition of CTRP5 action may result in the alleviation of insulin resistance associated with obesity and diabetes. 27143553 2016
Diabetes Mellitus, Non-Insulin-Dependent
0.030 AlteredExpression disease BEFREE Serum CTRP3 and CTRP5 levels were markedly decreased in patients with T2DM compared to controls (p<0.05) and inversely associated with T2DM. 28632765 2017
Diabetes Mellitus, Non-Insulin-Dependent
0.030 AlteredExpression disease BEFREE Moreover, serum myonectin levels were correlated with metabolic markers of T2DM. 31340393 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.030 Biomarker disease BEFREE nT2DM and IGT subjects had higher circulating myonectin concentrations than normal subjects (82.3 ± 47.6 and 68.9 ± 46.6 vs. 45.2 ± 23.5 µg/L, P < 0.05 or P < 0.01). 29161407 2018
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.030 Biomarker disease BEFREE CTRP-5 was detected in adipose tissue of mice and plays a role in the context of the metabolic syndrome. 23430573 2013