POLYDACTYLY, POSTAXIAL, TYPE A6
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A.
|
23160277 |
2013 |
POLYDACTYLY, POSTAXIAL, TYPE A6
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A.
|
23160277 |
2013 |
POLYDACTYLY, POSTAXIAL, TYPE A6
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A.
|
23160277 |
2013 |
POLYDACTYLY, POSTAXIAL, TYPE A6
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Postaxial polydactyly type A
|
0.310 |
GermlineCausalMutation
|
disease |
ORPHANET |
Nosology and classification of genetic skeletal disorders: 2015 revision.
|
26394607 |
2015 |
Postaxial polydactyly type A
|
0.310 |
GermlineCausalMutation
|
disease |
ORPHANET |
Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A.
|
23160277 |
2013 |
Postaxial polydactyly type A
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A.
|
23160277 |
2013 |
Polydactyly
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A.
|
23160277 |
2013 |
Ulnar polydactyly of fingers
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Broad phalanges of the 5th finger
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Huntington Disease
|
0.060 |
Biomarker
|
disease |
BEFREE |
Allelic frequencies of RFLPs at loci closely linked to the HD gene, D4S95, D4S91, D4S141, and D4S90, were determined in 13 Huntington's disease (HD) patients from nine Chinese families and 129 normal subjects.
|
7760321 |
1995 |
Huntington Disease
|
0.060 |
Biomarker
|
disease |
BEFREE |
To explain these results, it was suggested that the HD locus (HD) lies close to the telomere and that a recombination event took place between HD and the most telomeric marker examined, D4S90.
|
1350884 |
1992 |
Huntington Disease
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Twelve Italian families with Huntington disease were tested with 10 probes known to be linked to the disease locus and able to detect polymorphisms at the following loci on chromosome 4: D4S10, D4S127, D4S95, D4S43, D4S115, D4S111, D4S90.
|
1829583 |
1991 |
Huntington Disease
|
0.060 |
Biomarker
|
disease |
BEFREE |
D4S95 is a most useful DNA marker for predictive testing programs, while D4S90 will serve as a useful starting point for identifying DNA fragments closer to the gene for HD.
|
2521771 |
1989 |
Huntington Disease
|
0.060 |
Biomarker
|
disease |
BEFREE |
A new DNA marker (D4S90) is located terminally on the short arm of chromosome 4, close to the Huntington disease gene.
|
2574148 |
1989 |
Huntington Disease
|
0.060 |
Biomarker
|
disease |
BEFREE |
These data suggest that it may be possible to construct high and low risk haplotypes, which may be helpful in DNA analysis and genetic counselling for HD, and represent independent evidence that the gene for HD is centromeric to more distally located DNA markers such as D4S90.
|
2531224 |
1989 |
POLYDACTYLY, POSTAXIAL
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
This study revealed involvement of a zinc finger gene ZNF141 in causing autosomal recessive PAP type A, which may open up interesting perspectives into the function of this protein in limb development.
|
23160277 |
2013 |
Wolf-Hirschhorn Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
ZNF141 mapped to the distal end of the 2.2 Mb smallest region of deletion overlap of WHS, 300 kb from the 4p telomere on cosmid CD1 defining the anonymous locus D4S90.
|
8268908 |
1993 |