|
rs113624356
|
BBS1;ZDHHC24
|
Bardet-Biedl syndrome 1 (disorder)
|
|
0.810 |
GeneticVariation |
BEFREE |
We screened these six Newfoundland families for mutations in BBS1 and found that affected individuals in five of them were homozygous for the same M390R mutation.
|
15517396 |
2005 |
|
rs113624356
|
BBS1;ZDHHC24
|
Bardet-Biedl syndrome 1 (disorder)
|
|
0.810 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs113624356
|
BBS1;ZDHHC24
|
Bardet-Biedl Syndrome
|
|
0.750 |
GeneticVariation |
BEFREE |
As exemplified in this study by the identification of a homozygous p.M390R variant in a control individual and in unaffected parents of BBS patients in other studies, cis - or trans -acting modifiers may influence the disease phenotype.
|
23143442 |
2012 |
|
rs113624356
|
BBS1;ZDHHC24
|
Bardet-Biedl Syndrome
|
|
0.750 |
GeneticVariation |
BEFREE |
Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.
|
22940089 |
2012 |
|
rs113624356
|
BBS1;ZDHHC24
|
Bardet-Biedl Syndrome
|
|
0.750 |
GeneticVariation |
BEFREE |
Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C.
|
30142598 |
2018 |
|
rs113624356
|
BBS1;ZDHHC24
|
Bardet-Biedl Syndrome
|
|
0.750 |
GeneticVariation |
BEFREE |
Furthermore, we show that BBS1 with the M390R mutation, responsible for 30% of all reported BBS disease cases, fails to interact with ARL6-GTP, thus providing a molecular rationale for patient pathologies.
|
25402481 |
2014 |
|
rs113624356
|
BBS1;ZDHHC24
|
Bardet-Biedl Syndrome
|
|
0.750 |
GeneticVariation |
BEFREE |
We document a female affected with BBS carrying the most common BBS1 mutation (BBS1: Met390Arg) on the maternal allele and an insertion of a ~1.7-kb retrotransposon in exon 13 on the paternal allele.
|
30484961 |
2019 |
|
rs121917778
|
BBS1;ZDHHC24
|
Bardet-Biedl syndrome 1 (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
|
12524598 |
2003 |
|
rs121917778
|
BBS1;ZDHHC24
|
Bardet-Biedl syndrome 1 (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
|
12677556 |
2003 |
|
rs121917778
|
BBS1;ZDHHC24
|
Bardet-Biedl syndrome 1 (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Further support for digenic inheritance in Bardet-Biedl syndrome.
|
12920096 |
2003 |
|
rs121917778
|
BBS1;ZDHHC24
|
Bardet-Biedl syndrome 1 (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
|
12567324 |
2003 |
|
rs121917778
|
BBS1;ZDHHC24
|
Bardet-Biedl syndrome 1 (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
|
15770229 |
2005 |
|
rs121917778
|
BBS1;ZDHHC24
|
Bardet-Biedl syndrome 1 (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
|
12118255 |
2002 |
|
rs121917778
|
BBS1;ZDHHC24
|
Bardet-Biedl syndrome 1 (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
|
21344540 |
2011 |
|
rs121917778
|
BBS1;ZDHHC24
|
Bardet-Biedl syndrome 1 (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
|
21052717 |
2011 |
|
rs778225393
|
BBS1;ZDHHC24
|
Bardet-Biedl syndrome 1 (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
|
12677556 |
2003 |
|
rs778225393
|
BBS1;ZDHHC24
|
Bardet-Biedl syndrome 1 (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
|
12524598 |
2003 |
|
rs778225393
|
BBS1;ZDHHC24
|
Bardet-Biedl syndrome 1 (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
|
12567324 |
2003 |
|
rs778225393
|
BBS1;ZDHHC24
|
Bardet-Biedl syndrome 1 (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
|
15770229 |
2005 |
|
rs778225393
|
BBS1;ZDHHC24
|
Bardet-Biedl syndrome 1 (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
|
12118255 |
2002 |
|
rs778225393
|
BBS1;ZDHHC24
|
Bardet-Biedl syndrome 1 (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
|
21052717 |
2011 |
|
rs778225393
|
BBS1;ZDHHC24
|
Bardet-Biedl syndrome 1 (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
|
21344540 |
2011 |
|
rs778225393
|
BBS1;ZDHHC24
|
Bardet-Biedl syndrome 1 (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Further support for digenic inheritance in Bardet-Biedl syndrome.
|
12920096 |
2003 |
|
rs8432
|
BBS1;ZDHHC24
|
Finding of Mean Corpuscular Hemoglobin
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
rs942862410
|
BBS1;ZDHHC24
|
Bardet-Biedl syndrome 1 (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|