×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
0.450
GeneticVariation
disease
CLINVAR
Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.
25663137
2015
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
0.450
GeneticVariation
disease
BEFREE
Anauxetic dysplasia (AAD, OMIM 607095) is a rare skeletal dysplasia inherited as an autosomal recessive trait, which is caused by mutations in RMRP and allelic to a more common disorder, cartilage hair hypoplasia (CHH).
27380734
2016
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
0.450
GeneticVariation
disease
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
0.450
CausalMutation
disease
CLINVAR
The natural history of severe anemia in cartilage-hair hypoplasia.
16097009
2005
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
0.450
Biomarker
disease
CTD_human
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
0.450
CausalMutation
disease
CLINVAR
Ribonuclease P: a ribonucleoprotein enzyme.
11006544
2000
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
0.450
CausalMutation
disease
CLINVAR
The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases.
12888988
2003
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
0.450
CausalMutation
disease
CLINVAR
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.
11207361
2001
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
0.450
CausalMutation
disease
CLINVAR
An effective case of growth hormone treatment on cartilage-hair hypoplasia.
15780958
2005
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
0.450
Biomarker
disease
BEFREE
Our studies identified two novel compound heterozygous loss-of-function mutations in POP1, which encodes a core component of the RNase mitochondrial RNA processing (RNase MRP) complex that directly interacts with the RMRP RNA domains that are affected in anauxetic dysplasia .
21455487
2011
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
0.450
GeneticVariation
disease
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
0.450
CausalMutation
disease
CLINVAR
Identification of adenosine functional groups involved in substrate binding by the ribonuclease P ribozyme.
10026268
1999
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
0.450
GeneticVariation
disease
CLINVAR
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.
11940090
2002
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
0.450
CausalMutation
disease
CLINVAR
RMRP mutations in Japanese patients with cartilage-hair hypoplasia.
14608646
2003
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
0.450
CausalMutation
disease
CLINVAR
Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.
16832578
2006
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
0.450
CausalMutation
disease
CLINVAR
Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability.
17937437
2007
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
0.450
GeneticVariation
disease
BEFREE
The molecular basis of the cartilage-hair hypoplasia -anauxetic dysplasia spectrum.
21396580
2011
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
0.450
GeneticVariation
disease
CLINVAR
RMRP mutations in cartilage-hair hypoplasia.
16838329
2006
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
0.450
GeneticVariation
disease
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
0.450
GeneticVariation
disease
CLINVAR
Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.
21570718
2011
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
0.450
GeneticVariation
disease
CLINVAR
RNase MRP RNA and human genetic diseases.
17189938
2007
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
0.450
CausalMutation
disease
CLINVAR
Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene.
14569125
2003
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
0.450
CausalMutation
disease
CLINVAR
RMRP mutations in cartilage-hair hypoplasia.
16838329
2006
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
0.450
CausalMutation
disease
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
0.450
GeneticVariation
disease
CLINVAR
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
16244706
2005