BBS7, Bardet-Biedl syndrome 7, 55212

N. diseases: 47; N. variants: 29
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		0.700 GeneticVariation disease CLINVAR
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		0.700 GeneticVariation disease UNIPROT BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540 2011
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		0.700 GeneticVariation disease UNIPROT Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 12677556 2003
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		0.700 GeneticVariation disease UNIPROT Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 12567324 2003
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		0.700 GeneticVariation disease UNIPROT Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 15770229 2005
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.200 GeneticVariation disease BEFREE A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family. 19093007 2008
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.200 GeneticVariation disease BEFREE Both MKS and BBS can be caused by mutations in the MKKS or BBS6 gene on chromosome 20p12 and BBS is also associated with mutations in other genes (BBS1, BBS2, BBS4, and BBS7). 15266619 2004
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.200 GeneticVariation disease BEFREE This mutation has not yet been described in any reported literature, and this is the first report on BBS7 mutation in Chinese Miao families with BBS phenotypes. 30839500 2019
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.200 GeneticVariation disease CLINVAR In the present study, we demonstrate that BBS2L1 mutations cause BBS, thereby defining a novel locus for this syndrome, BBS7, whereas BBS2L2 has been shown independently to be BBS1. 12567324 2003
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.200 GeneticVariation disease BEFREE BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. 19402160 2009
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.200 GeneticVariation disease BEFREE Bardet-Biedl syndrome (BBS) is a heterogeneous disease; to date seven loci have been mapped and five identified (BBS1, BBS2, BBS4, BBS6, and BBS7). 12872256 2003
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.200 GeneticVariation disease LHGDN Linkage analysis was conducted for all known BBS loci, and mutation screening of BBS7 gene and BBS12 gene was performed. 19093007 2008
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.200 GeneticVariation disease BEFREE Thus, monkeys homozygous for the BBS7 c.160delG variant closely mirrored several key features of the human BBS syndrome. 31589838 2019
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.200 GeneticVariation disease BEFREE Bardet-Biedl syndrome is a genetically and clinically heterogeneous disorder caused by mutations in at least seven loci (BBS1-7), five of which are cloned (BBS1, BBS2, BBS4, BBS6, and BBS7). 12677556 2003
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.200 GeneticVariation disease BEFREE BBS7 and RIN2 variants cause Bardet Biedl syndrome and RIN2 syndrome respectively. 31521835 2020
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.100 GeneticVariation group CLINVAR
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.100 GeneticVariation phenotype GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.010 GeneticVariation group BEFREE Three full- or half-sibling monkeys homozygous for the BBS7 c.160delG variant, at ages 3.5, 4 and 6 years old, displayed a combination of severe photoreceptor degeneration and progressive kidney disease. 31589838 2019
CUI: C0266453
Disease: Exencephaly
Exencephaly 		0.010 GeneticVariation disease BEFREE Knockout of Bbs7 combined with a hypomorphic Ift88 allele (orpk as a model for Shh dysfuction) results in embryonic lethality with e12.5 embryos having exencephaly, pericardial edema, cleft palate and abnormal limb development, phenotypes not observed in Bbs7(-/-) mice. 22228099 2012
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		0.010 GeneticVariation disease BEFREE Thus, monkeys homozygous for the BBS7 c.160delG variant closely mirrored several key features of the human BBS syndrome. 31589838 2019
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		0.700 Biomarker disease CTD_human
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		0.700 Biomarker disease GENOMICS_ENGLAND Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 12567324 2003