Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315396
rs74315396
MKKS
0.800 GeneticVariation UNIPROT Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. 28761321

2017
dbSNP: rs74315396
rs74315396
MKKS
0.800 GeneticVariation UNIPROT Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. 28753627

2017
dbSNP: rs74315396
rs74315396
MKKS
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
dbSNP: rs74315396
rs74315396
MKKS
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
dbSNP: rs74315396
rs74315396
MKKS
0.800 GeneticVariation UNIPROT BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540

2011
dbSNP: rs74315396
rs74315396
MKKS
0.800 GeneticVariation UNIPROT BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. 20080638

2010
dbSNP: rs74315396
rs74315396
MKKS
0.800 GeneticVariation UNIPROT MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination. 18094050

2008
dbSNP: rs74315396
rs74315396
MKKS
0.800 GeneticVariation UNIPROT Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. 15666242

2005
dbSNP: rs74315396
rs74315396
MKKS
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
dbSNP: rs74315396
rs74315396
MKKS
0.800 GeneticVariation UNIPROT Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 15770229

2005
dbSNP: rs74315396
rs74315396
MKKS
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
dbSNP: rs74315396
rs74315396
MKKS
0.800 GeneticVariation UNIPROT Further support for digenic inheritance in Bardet-Biedl syndrome. 12920096

2003
dbSNP: rs74315396
rs74315396
MKKS
0.800 GeneticVariation UNIPROT Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. 12107442

2002
dbSNP: rs74315396
rs74315396
MKKS
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
dbSNP: rs74315396
rs74315396
MKKS
0.800 GeneticVariation UNIPROT Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. 11567139

2001
dbSNP: rs74315396
rs74315396
MKKS
0.800 GeneticVariation UNIPROT Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. 10973251

2000
dbSNP: rs74315396
rs74315396
MKKS
0.800 GeneticVariation UNIPROT Mutations in MKKS cause Bardet-Biedl syndrome. 10973238

2000
dbSNP: rs74315396
rs74315396
MKKS
C 0.800 CausalMutation CLINVAR