|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.
|
28753627 |
2017 |
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
|
28761321 |
2017 |
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.
|
26900326 |
2016 |
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation
|
UNIPROT |
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
|
21344540 |
2011 |
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation
|
UNIPROT |
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
|
22152675 |
2011 |
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation
|
UNIPROT |
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
|
20080638 |
2010 |
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation
|
UNIPROT |
MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.
|
18094050 |
2008 |
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation
|
UNIPROT |
MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis.
|
15731008 |
2005 |
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
|
15666242 |
2005 |
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
|
15770229 |
2005 |
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Further support for digenic inheritance in Bardet-Biedl syndrome.
|
12920096 |
2003 |
|
BARDET-BIEDL SYNDROME 6
|
|
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 |
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.
|
12107442 |
2002 |
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.
|
11179009 |
2001 |
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
|
11567139 |
2001 |
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in MKKS cause Bardet-Biedl syndrome.
|
10973238 |
2000 |
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.
|
10973251 |
2000 |
|
BARDET-BIEDL SYNDROME 2/6, DIGENIC
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|