rs74315396
×
Entrez Id:
8195
Gene Symbol:
MKKS
MKKS
BARDET-BIEDL SYNDROME 6
0.800
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
rs74315396
×
Entrez Id:
8195
Gene Symbol:
MKKS
MKKS
BARDET-BIEDL SYNDROME 6
0.800
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
rs74315396
×
Entrez Id:
8195
Gene Symbol:
MKKS
MKKS
BARDET-BIEDL SYNDROME 6
0.800
GeneticVariation
UNIPROT
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
28761321
2017
rs74315396
×
Entrez Id:
8195
Gene Symbol:
MKKS
MKKS
BARDET-BIEDL SYNDROME 6
0.800
GeneticVariation
UNIPROT
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.
10973251
2000
rs74315396
×
Entrez Id:
8195
Gene Symbol:
MKKS
MKKS
BARDET-BIEDL SYNDROME 6
0.800
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
rs74315396
×
Entrez Id:
8195
Gene Symbol:
MKKS
MKKS
BARDET-BIEDL SYNDROME 6
0.800
GeneticVariation
UNIPROT
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
15666242
2005
rs74315396
×
Entrez Id:
8195
Gene Symbol:
MKKS
MKKS
BARDET-BIEDL SYNDROME 6
0.800
GeneticVariation
UNIPROT
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.
28753627
2017
rs74315396
×
Entrez Id:
8195
Gene Symbol:
MKKS
MKKS
Kaufman-McKusick syndrome
0.800
GeneticVariation
UNIPROT
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.
28753627
2017
rs74315396
×
Entrez Id:
8195
Gene Symbol:
MKKS
MKKS
BARDET-BIEDL SYNDROME 6
0.800
GeneticVariation
UNIPROT
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
21344540
2011
rs74315396
×
Entrez Id:
8195
Gene Symbol:
MKKS
MKKS
BARDET-BIEDL SYNDROME 6
0.800
GeneticVariation
UNIPROT
Mutations in MKKS cause Bardet-Biedl syndrome.
10973238
2000
rs74315396
×
Entrez Id:
8195
Gene Symbol:
MKKS
MKKS
BARDET-BIEDL SYNDROME 6
0.800
GeneticVariation
UNIPROT
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
11567139
2001
rs74315396
×
Entrez Id:
8195
Gene Symbol:
MKKS
MKKS
BARDET-BIEDL SYNDROME 6
0.800
GeneticVariation
UNIPROT
Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.
12107442
2002
rs74315396
×
Entrez Id:
8195
Gene Symbol:
MKKS
MKKS
BARDET-BIEDL SYNDROME 6
0.800
GeneticVariation
UNIPROT
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
12677556
2003
rs74315396
×
Entrez Id:
8195
Gene Symbol:
MKKS
MKKS
BARDET-BIEDL SYNDROME 6
0.800
GeneticVariation
UNIPROT
MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.
18094050
2008
rs74315396
×
Entrez Id:
8195
Gene Symbol:
MKKS
MKKS
BARDET-BIEDL SYNDROME 6
0.800
GeneticVariation
UNIPROT
Further support for digenic inheritance in Bardet-Biedl syndrome.
12920096
2003
rs74315396
×
Entrez Id:
8195
Gene Symbol:
MKKS
MKKS
BARDET-BIEDL SYNDROME 6
0.800
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
rs74315396
×
Entrez Id:
8195
Gene Symbol:
MKKS
MKKS
BARDET-BIEDL SYNDROME 6
0.800
GeneticVariation
UNIPROT
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
20080638
2010
rs74315396
×
Entrez Id:
8195
Gene Symbol:
MKKS
MKKS
BARDET-BIEDL SYNDROME 6
0.800
GeneticVariation
UNIPROT
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
15770229
2005
rs74315396
×
Entrez Id:
8195
Gene Symbol:
MKKS
MKKS
Kaufman-McKusick syndrome
0.800
GeneticVariation
UNIPROT
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.
10802661
2000
rs74315398
×
Entrez Id:
8195
Gene Symbol:
MKKS
MKKS
BARDET-BIEDL SYNDROME 6
0.800
GeneticVariation
UNIPROT
Mutations in MKKS cause Bardet-Biedl syndrome.
10973238
2000
rs74315398
×
Entrez Id:
8195
Gene Symbol:
MKKS
MKKS
BARDET-BIEDL SYNDROME 6
0.800
GeneticVariation
UNIPROT
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
15666242
2005
rs74315398
×
Entrez Id:
8195
Gene Symbol:
MKKS
MKKS
BARDET-BIEDL SYNDROME 6
0.800
GeneticVariation
UNIPROT
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.
28753627
2017
rs74315398
×
Entrez Id:
8195
Gene Symbol:
MKKS
MKKS
BARDET-BIEDL SYNDROME 6
0.800
GeneticVariation
UNIPROT
Further support for digenic inheritance in Bardet-Biedl syndrome.
12920096
2003
rs74315398
×
Entrez Id:
8195
Gene Symbol:
MKKS
MKKS
BARDET-BIEDL SYNDROME 6
0.800
GeneticVariation
UNIPROT
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
21344540
2011
rs74315398
×
Entrez Id:
8195
Gene Symbol:
MKKS
MKKS
BARDET-BIEDL SYNDROME 6
0.800
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