MKKS, McKusick-Kaufman syndrome, 8195

N. diseases: 123; N. variants: 37
Disease: Kaufman-McKusick syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		0.790 GeneticVariation disease BEFREE Therefore, the McKusick-Kaufman syndrome allele may highlight cellular functions of BBS6 distinct from the presently understood functions in the cilia. 28753627 2017
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		0.790 GeneticVariation disease UNIPROT Our work identifies a new function for BBS6 in nuclear-cytoplasmic transport, and provides insight into the disease mechanism underlying the congenital heart defects in McKusick-Kaufman syndrome patients. 28753627 2017
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		0.790 Biomarker disease BEFREE The MKKS gene generates two types of transcripts: a canonical long transcript that encodes both uORFs and MKKS, and a short transcript that encodes only uORFs by using alternative polyadenylation sites at the 5'-UTR. 23671934 2013
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		0.790 GeneticVariation disease BEFREE Genotype overlap also exists, as mutations in the MKKS-BBS6 gene are found in both syndromes. 21044901 2011
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		0.790 CausalMutation disease CLINVAR Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. 20498079 2010
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		0.790 CausalMutation disease CLINVAR MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination. 18094050 2008
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		0.790 GeneticVariation disease BEFREE The phenotypic triad of anomalies most closely resembled McKusick-Kaufman syndrome (MKS; OMIM 236700), a rare multiple congenital anomaly syndrome comprised of hydrometrocolpos (HMC), PAP, and congenital heart malformation that is inherited in an autosomal recessive pattern. 15266619 2004
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		0.790 GeneticVariation disease BEFREE Mutation of one of these genes, BBS6, also causes McKusick-Kaufman syndrome. 15155861 2004
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		0.790 GeneticVariation disease BEFREE Cases of BBS mapping ro BBS6 are caused by mutations in MKKS; mutations in this gene also cause McKusick-Kaufman syndrome (hydrometrocolpos, post-axial polydactyly and congenital heart defects). 12118255 2002
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		0.790 GeneticVariation disease BEFREE We hypothesized that an analysis of patients with atypical Bardet-Biedl syndrome and McKusick-Kaufman syndrome (Group I; 15 probands) and patients with Bardet-Biedl syndrome who had linkage results inconsistent with linkage to the other loci (Group II; 12 probands) could increase the MKKS mutation yield. 12107442 2002
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		0.790 Biomarker disease GENOMICS_ENGLAND Mutations in MKKS cause Bardet-Biedl syndrome. 10973238 2000
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		0.790 GeneticVariation disease UNIPROT McKusick-Kaufman syndrome (MKKS, MIM 236700) is a human developmental anomaly syndrome comprising hydrometrocolpos (HMC), postaxial polydactyly (PAP) and congenital heart disease (CHD). 10802661 2000
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		0.790 Biomarker disease GENOMICS_ENGLAND Mutations in MKKS cause Bardet-Biedl syndrome. 10973238 2000
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		0.790 Biomarker disease GENOMICS_ENGLAND Mutations in this gene were recently reported to be associated with McKusick-Kaufman syndrome (MKKS; ref.8). 10973251 2000
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		0.790 GeneticVariation disease BEFREE Mutations in this gene were recently reported to be associated with McKusick-Kaufman syndrome (MKKS; ref.8). 10973251 2000
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		0.790 GeneticVariation disease BEFREE McKusick-Kaufman syndrome (MKKS, MIM 236700) is a human developmental anomaly syndrome comprising hydrometrocolpos (HMC), postaxial polydactyly (PAP) and congenital heart disease (CHD). 10802661 2000
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		0.790 CausalMutation disease CLINVAR McKusick-Kaufman syndrome (MKKS, MIM 236700) is a human developmental anomaly syndrome comprising hydrometrocolpos (HMC), postaxial polydactyly (PAP) and congenital heart disease (CHD). 10802661 2000
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		0.790 Biomarker disease GENOMICS_ENGLAND McKusick-Kaufman syndrome (MKKS, MIM 236700) is a human developmental anomaly syndrome comprising hydrometrocolpos (HMC), postaxial polydactyly (PAP) and congenital heart disease (CHD). 10802661 2000
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		0.790 Biomarker disease CTD_human
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		0.790 Biomarker disease GENOMICS_ENGLAND