|
| Entrez Id: |
6023 |
| Gene Symbol: |
RMRP |
RMRP
|
Cartilage-hair hypoplasia
|
0.700 |
CausalMutation |
CLINVAR |
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
|
16244706 |
2005 |
|
| Entrez Id: |
6023 |
| Gene Symbol: |
RMRP |
RMRP
|
Cartilage-hair hypoplasia
|
0.700 |
CausalMutation |
CLINVAR |
Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation.
|
20375313 |
2010 |
|
| Entrez Id: |
6023 |
| Gene Symbol: |
RMRP |
RMRP
|
Cartilage-hair hypoplasia
|
0.700 |
CausalMutation |
CLINVAR |
Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia.
|
19626344 |
2009 |
|
| Entrez Id: |
6023 |
| Gene Symbol: |
RMRP |
RMRP
|
Cartilage-hair hypoplasia
|
0.700 |
GeneticVariation |
CLINVAR |
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
|
16244706 |
2005 |
|
| Entrez Id: |
6023 |
| Gene Symbol: |
RMRP |
RMRP
|
Cartilage-hair hypoplasia
|
0.700 |
GeneticVariation |
CLINVAR |
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.
|
17701897 |
2007 |
|
| Entrez Id: |
6023 |
| Gene Symbol: |
RMRP |
RMRP
|
Cartilage-hair hypoplasia
|
0.700 |
GeneticVariation |
CLINVAR |
Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability.
|
17937437 |
2007 |
|
| Entrez Id: |
6023 |
| Gene Symbol: |
RMRP |
RMRP
|
Cartilage-hair hypoplasia
|
0.700 |
GeneticVariation |
CLINVAR |
RNAsnp: efficient detection of local RNA secondary structure changes induced by SNPs.
|
23315997 |
2013 |
|
| Entrez Id: |
6023 |
| Gene Symbol: |
RMRP |
RMRP
|
Cartilage-hair hypoplasia
|
0.700 |
GeneticVariation |
CLINVAR |
CHIPS for genetic testing to improve a regional clinical genetic service.
|
25046119 |
2015 |
|
| Entrez Id: |
6023 |
| Gene Symbol: |
RMRP |
RMRP
|
Cartilage-hair hypoplasia
|
0.700 |
GeneticVariation |
CLINVAR |
Cartilage-hair hypoplasia (CHH), or metaphyseal dysplasia, McKusick type, is an autosomal recessive disease with diverse clinical manifestations.
|
16832578 |
2006 |
|
| Entrez Id: |
6023 |
| Gene Symbol: |
RMRP |
RMRP
|
Cartilage-hair hypoplasia
|
0.700 |
GeneticVariation |
CLINVAR |
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.
|
27569544 |
2016 |
|
| Entrez Id: |
6023 |
| Gene Symbol: |
RMRP |
RMRP
|
Cartilage-hair hypoplasia
|
0.700 |
GeneticVariation |
CLINVAR |
RNase MRP and disease.
|
21956908 |
2012 |
|
| Entrez Id: |
6023 |
| Gene Symbol: |
RMRP |
RMRP
|
Cartilage-hair hypoplasia
|
0.700 |
CausalMutation |
CLINVAR |
RMRP mutations in Japanese patients with cartilage-hair hypoplasia.
|
14608646 |
2003 |
|
| Entrez Id: |
6023 |
| Gene Symbol: |
RMRP |
RMRP
|
Cartilage-hair hypoplasia
|
0.700 |
CausalMutation |
CLINVAR |
Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability.
|
17937437 |
2007 |
|
| Entrez Id: |
6023 |
| Gene Symbol: |
RMRP |
RMRP
|
Cartilage-hair hypoplasia
|
0.700 |
GeneticVariation |
CLINVAR |
RMRP mutations in Japanese patients with cartilage-hair hypoplasia.
|
14608646 |
2003 |
|
| Entrez Id: |
6023 |
| Gene Symbol: |
RMRP |
RMRP
|
Cartilage-hair hypoplasia
|
0.700 |
GeneticVariation |
CLINVAR |
We conclude that mutations in RMRP cause CHH by disrupting a function of RNase MRP RNA that affects multiple organ systems.
|
11207361 |
2001 |
|
| Entrez Id: |
6023 |
| Gene Symbol: |
RMRP |
RMRP
|
Cartilage-hair hypoplasia
|
0.700 |
GeneticVariation |
CLINVAR |
RMRP mutations in cartilage-hair hypoplasia.
|
16838329 |
2006 |
|
| Entrez Id: |
6023 |
| Gene Symbol: |
RMRP |
RMRP
|
Cartilage-hair hypoplasia
|
0.700 |
GeneticVariation |
CLINVAR |
Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.
|
12107819 |
2002 |
|
| Entrez Id: |
6023 |
| Gene Symbol: |
RMRP |
RMRP
|
Cartilage-hair hypoplasia
|
0.700 |
CausalMutation |
CLINVAR |
Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations.
|
18804272 |
2008 |
|
| Entrez Id: |
6023 |
| Gene Symbol: |
RMRP |
RMRP
|
Cartilage-hair hypoplasia
|
0.700 |
GeneticVariation |
CLINVAR |
The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum.
|
21396580 |
2011 |
|
| Entrez Id: |
6023 |
| Gene Symbol: |
RMRP |
RMRP
|
Cartilage-hair hypoplasia
|
0.700 |
CausalMutation |
CLINVAR |
Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.
|
12107819 |
2002 |
|
| Entrez Id: |
6023 |
| Gene Symbol: |
RMRP |
RMRP
|
Cartilage-hair hypoplasia
|
0.700 |
CausalMutation |
CLINVAR |
Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.
|
25663137 |
2015 |
|
| Entrez Id: |
6023 |
| Gene Symbol: |
RMRP |
RMRP
|
Cartilage-hair hypoplasia
|
0.700 |
CausalMutation |
CLINVAR |
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.
|
17701897 |
2007 |
|
| Entrez Id: |
6023 |
| Gene Symbol: |
RMRP |
RMRP
|
Cartilage-hair hypoplasia
|
0.700 |
GeneticVariation |
CLINVAR |
Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.
|
25663137 |
2015 |
|
| Entrez Id: |
6023 |
| Gene Symbol: |
RMRP |
RMRP
|
Cartilage-hair hypoplasia
|
0.700 |
GeneticVariation |
CLINVAR |
Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.
|
16254002 |
2005 |
|
| Entrez Id: |
6023 |
| Gene Symbol: |
RMRP |
RMRP
|
Cartilage-hair hypoplasia
|
0.700 |
CausalMutation |
CLINVAR |
RMRP mutations in cartilage-hair hypoplasia.
|
16838329 |
2006 |