|
Achondrogenesis, type IB (disorder)
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.
|
18925670 |
2008 |
|
Achondrogenesis, type IB (disorder)
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Achondrogenesis, type IB (disorder)
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
|
8528239 |
1996 |
|
Achondrogenesis, type IB (disorder)
|
0.790 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Achondrogenesis, type IB (disorder)
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Solute Carrier Family 26 Member a2 (slc26a2) Regulates Otic Development and Hair Cell Survival in Zebrafish.
|
26375458 |
2015 |
|
Achondrogenesis, type IB (disorder)
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
|
21922596 |
2012 |
|
Achondrogenesis, type IB (disorder)
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
|
15294877 |
2004 |
|
Achondrogenesis, type IB (disorder)
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation.
|
15316973 |
2004 |
|
Achondrogenesis, type IB (disorder)
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
|
21155763 |
2011 |
|
Achondrogenesis, type IB (disorder)
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene.
|
21077204 |
2010 |
|
Achondrogenesis, type IB (disorder)
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
|
12966518 |
2003 |
|
Achondrogenesis, type IB (disorder)
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene.
|
21077204 |
2010 |
|
Achondrogenesis, type IB (disorder)
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).
|
10482955 |
1999 |
|
Achondrogenesis, type IB (disorder)
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.
|
11448940 |
2001 |
|
Achondrogenesis, type IB (disorder)
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
|
8571951 |
1996 |
|
Achondrogenesis, type IB (disorder)
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.
|
8931695 |
1996 |
|
Achondrogenesis, type IB (disorder)
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.
|
11241838 |
2001 |
|
Achondrogenesis, type IB (disorder)
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
|
12966518 |
2003 |
|
Achondrogenesis, type IB (disorder)
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2.
|
9342225 |
1997 |
|
Achondrogenesis, type IB (disorder)
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.
|
16642506 |
2006 |
|
Achondrogenesis, type IB (disorder)
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
|
8528239 |
1996 |
|
Achondrogenesis, type IB (disorder)
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
|
8571951 |
1996 |
|
Achondrogenesis, type IB (disorder)
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
|
21077202 |
2010 |
|
Achondrogenesis, type IB (disorder)
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Regulated transport of sulfate and oxalate by SLC26A2/DTDST.
|
20219950 |
2010 |
|
Achondrogenesis, type IB (disorder)
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
|
15294877 |
2004 |