DisGeNET - a database of gene-disease associations

MKKS, McKusick-Kaufman syndrome, 8195

N. diseases: 123; N. variants: 37

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs74315396

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

CUI:	C1858054
Disease:

BARDET-BIEDL SYNDROME 6

0.800

GeneticVariation

UNIPROT

Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.

28761321

2017

dbSNP:

rs74315396

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

CUI:	C1858054
Disease:

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

dbSNP:

rs74315396

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

CUI:	C0948368
Disease:

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

dbSNP:

rs74315398

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

CUI:	C1858054
Disease:

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

dbSNP:

rs74315398

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

CUI:	C1858054
Disease:

BARDET-BIEDL SYNDROME 6

0.800

GeneticVariation

UNIPROT

Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.

28761321

2017

dbSNP:

rs74315399

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

CUI:	C1858054
Disease:

BARDET-BIEDL SYNDROME 6

0.800

GeneticVariation

UNIPROT

Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.

28761321

2017

dbSNP:

rs74315399

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

CUI:	C1858054
Disease:

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

dbSNP:

rs74315396

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

CUI:	C1858054
Disease:

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

dbSNP:

rs74315398

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

CUI:	C1858054
Disease:

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

dbSNP:

rs74315399

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

CUI:	C1858054
Disease:

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

dbSNP:

rs74315396

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

CUI:	C1858054
Disease:

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

dbSNP:

rs74315396

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

CUI:	C1858054
Disease:

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

dbSNP:

rs74315398

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

CUI:	C1858054
Disease:

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

dbSNP:

rs74315398

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

CUI:	C1858054
Disease:

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

dbSNP:

rs74315399

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

CUI:	C1858054
Disease:

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

dbSNP:

rs74315399

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

CUI:	C1858054
Disease:

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

dbSNP:

rs74315396

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

CUI:	C0948368
Disease:

Kaufman-McKusick syndrome

0.800

CausalMutation

CLINVAR

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

20498079

2010

dbSNP:

rs74315396

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

CUI:	C1858054
Disease:

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

dbSNP:

rs74315398

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

CUI:	C1858054
Disease:

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

dbSNP:

rs74315399

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

CUI:	C1858054
Disease:

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

dbSNP:

rs74315396

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

CUI:	C1858054
Disease:

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

dbSNP:

rs74315396

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

CUI:	C0948368
Disease:

Kaufman-McKusick syndrome

0.800

CausalMutation

CLINVAR

MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.

18094050

2008

dbSNP:

rs74315398

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

CUI:	C1858054
Disease:

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

dbSNP:

rs74315399

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

CUI:	C1858054
Disease:

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

dbSNP:

rs74315396

Entrez Id:	8195
Gene Symbol:	MKKS

MKKS

CUI:	C1858054
Disease:

BARDET-BIEDL SYNDROME 6

0.800

GeneticVariation

UNIPROT

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

15666242

2005