MKKS, McKusick-Kaufman syndrome, 8195

N. diseases: 123; N. variants: 37
Disease: BARDET-BIEDL SYNDROME 6 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		0.910 GeneticVariation disease UNIPROT Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. 28761321 2017
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		0.910 GeneticVariation disease UNIPROT Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. 28753627 2017
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		0.910 GeneticVariation disease 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
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		0.910 GeneticVariation disease UNIPROT BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540 2011
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		0.910 GeneticVariation disease 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
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		0.910 GeneticVariation disease UNIPROT BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. 20080638 2010
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		0.910 GeneticVariation disease UNIPROT MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination. 18094050 2008
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		0.910 GeneticVariation disease UNIPROT Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 15770229 2005
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		0.910 GeneticVariation disease 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
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		0.910 Biomarker disease MGD Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. 15772095 2005
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		0.910 GeneticVariation disease UNIPROT Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. 15666242 2005
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		0.910 GeneticVariation disease BEFREE We describe an Amish family with MKS, where three children were affected with homozygous MKKS (BBS6) mutations (H84Y and A242S on both alleles), their father was a carrier, and their mother was homozygous for the same MKKS mutations, but she was non-penetrant. 16104012 2005
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		0.910 GeneticVariation disease UNIPROT Further support for digenic inheritance in Bardet-Biedl syndrome. 12920096 2003
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		0.910 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: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		0.910 GeneticVariation disease UNIPROT Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. 12107442 2002
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		0.910 GeneticVariation disease 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
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		0.910 GeneticVariation disease UNIPROT Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. 11567139 2001
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		0.910 GeneticVariation disease UNIPROT Mutations in MKKS cause Bardet-Biedl syndrome. 10973238 2000
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		0.910 GeneticVariation disease UNIPROT Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. 10973251 2000
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		0.910 Biomarker disease GENOMICS_ENGLAND Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. 10802661 2000
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		0.910 CausalMutation disease CLINVAR
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		0.910 Biomarker disease GENOMICS_ENGLAND
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		0.910 Biomarker disease CTD_human
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		0.910 Biomarker disease GENOMICS_ENGLAND