Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.660 | Biomarker | disease | BEFREE | Bardet-Biedl syndrome obesity: BBS4 regulates cellular ER stress in early adipogenesis. | 30902542 | 2019 | ||||
|
0.660 | GeneticVariation | disease | BEFREE | Sequencing of candidate genes for epilepsy and obesity showed that the proband was hemizygous for paternal A-at risk allele of BBS4 rs7178130 and NPTN rs7171755 predisposing to obesity, epilepsy and intellectual deficits. | 29549028 | 2018 | ||||
|
0.660 | GeneticVariation | disease | BEFREE | Some manifestations of the proband including atypical retinitis pigmentosa, choroidal sclerosis, high myopia, and early onset of obesity might be associated with this mutation in BBS4 gene. | 25533820 | 2014 | ||||
|
0.660 | GeneticVariation | disease | BEFREE | Variants in BBS2, BBS4, and BBS6 showed evidence of association with common obesity in an age-dependent manner, the BBS2 single nucleotide polymorphism (SNP) being associated with common adult obesity (P = 0.0005) and the BBS4 and BBS6 SNPs being associated with common early-onset childhood obesity (P = 0.0003) and common adult morbid obesity (0.0003 < P < 0.007). | 17003356 | 2006 | ||||
|
0.660 | Biomarker | disease | BEFREE | In this study, we show that mice lacking the Bbs4 protein have major components of the human phenotype, including obesity and retinal degeneration. | 15173597 | 2004 | ||||
|
0.660 | Biomarker | disease | MGD | Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. | 15322545 | 2004 | ||||
|
0.660 | GeneticVariation | disease | BEFREE | Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. | 11381270 | 2001 | ||||
|
0.660 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.660 | Biomarker | disease | HPO |