rs281797258
|
Entrez Id: |
8195 |
Gene Symbol: |
MKKS |
MKKS
|
Kaufman-McKusick syndrome
|
|
0.700 |
GeneticVariation |
UNIPROT |
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.
|
28753627 |
2017 |
rs281797259
|
Entrez Id: |
8195 |
Gene Symbol: |
MKKS |
MKKS
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation |
UNIPROT |
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.
|
28753627 |
2017 |
rs281797259
|
Entrez Id: |
8195 |
Gene Symbol: |
MKKS |
MKKS
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation |
UNIPROT |
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
|
28761321 |
2017 |
rs753338844
|
Entrez Id: |
8195 |
Gene Symbol: |
MKKS |
MKKS
|
Bardet-Biedl syndrome 1 (disorder)
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
|
28761321 |
2017 |
rs756083063
|
Entrez Id: |
8195 |
Gene Symbol: |
MKKS |
MKKS
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation |
UNIPROT |
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
|
28761321 |
2017 |
rs756083063
|
Entrez Id: |
8195 |
Gene Symbol: |
MKKS |
MKKS
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation |
UNIPROT |
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.
|
28753627 |
2017 |
rs766132697
|
Entrez Id: |
8195 |
Gene Symbol: |
MKKS |
MKKS
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation |
UNIPROT |
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.
|
28753627 |
2017 |
rs766132697
|
Entrez Id: |
8195 |
Gene Symbol: |
MKKS |
MKKS
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation |
UNIPROT |
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
|
28761321 |
2017 |
rs779116830
|
Entrez Id: |
8195 |
Gene Symbol: |
MKKS |
MKKS
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation |
UNIPROT |
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
|
28761321 |
2017 |
rs779116830
|
Entrez Id: |
8195 |
Gene Symbol: |
MKKS |
MKKS
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation |
UNIPROT |
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.
|
28753627 |
2017 |
rs1297985227
|
Entrez Id: |
8195 |
Gene Symbol: |
MKKS |
MKKS
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
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 |
rs142327258
|
Entrez Id: |
8195 |
Gene Symbol: |
MKKS |
MKKS
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
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 |
rs1555801973
|
Entrez Id: |
8195 |
Gene Symbol: |
MKKS |
MKKS
|
Overgrowth
|
CT |
0.700 |
CausalMutation |
CLINVAR |
Genetics of human Bardet-Biedl syndrome, an updates.
|
26762677 |
2016 |
rs281797259
|
Entrez Id: |
8195 |
Gene Symbol: |
MKKS |
MKKS
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
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 |
rs756083063
|
Entrez Id: |
8195 |
Gene Symbol: |
MKKS |
MKKS
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
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 |
rs766132697
|
Entrez Id: |
8195 |
Gene Symbol: |
MKKS |
MKKS
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
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 |
rs779116830
|
Entrez Id: |
8195 |
Gene Symbol: |
MKKS |
MKKS
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
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 |
rs1555801973
|
Entrez Id: |
8195 |
Gene Symbol: |
MKKS |
MKKS
|
Overgrowth
|
CT |
0.700 |
CausalMutation |
CLINVAR |
Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.
|
24608809 |
2014 |
rs1297985227
|
Entrez Id: |
8195 |
Gene Symbol: |
MKKS |
MKKS
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
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 |
rs1297985227
|
Entrez Id: |
8195 |
Gene Symbol: |
MKKS |
MKKS
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation |
UNIPROT |
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
|
21344540 |
2011 |
rs142327258
|
Entrez Id: |
8195 |
Gene Symbol: |
MKKS |
MKKS
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation |
UNIPROT |
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
|
21344540 |
2011 |
rs142327258
|
Entrez Id: |
8195 |
Gene Symbol: |
MKKS |
MKKS
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
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 |
rs1555801973
|
Entrez Id: |
8195 |
Gene Symbol: |
MKKS |
MKKS
|
Overgrowth
|
CT |
0.700 |
CausalMutation |
CLINVAR |
McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family.
|
22090721 |
2011 |
rs281797259
|
Entrez Id: |
8195 |
Gene Symbol: |
MKKS |
MKKS
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
GeneticVariation |
UNIPROT |
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
|
21344540 |
2011 |
rs281797259
|
Entrez Id: |
8195 |
Gene Symbol: |
MKKS |
MKKS
|
BARDET-BIEDL SYNDROME 6
|
|
0.700 |
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 |