×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
Anauxetic dysplasia
0.450
GeneticVariation
CLINVAR
Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.
25663137
2015
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
Anauxetic dysplasia
0.450
GeneticVariation
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
Anauxetic dysplasia
0.450
CausalMutation
CLINVAR
The natural history of severe anemia in cartilage-hair hypoplasia.
16097009
2005
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
Anauxetic dysplasia
0.450
CausalMutation
CLINVAR
Ribonuclease P: a ribonucleoprotein enzyme.
11006544
2000
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
Anauxetic dysplasia
0.450
CausalMutation
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
Anauxetic dysplasia
0.450
CausalMutation
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
Anauxetic dysplasia
0.450
CausalMutation
CLINVAR
An effective case of growth hormone treatment on cartilage-hair hypoplasia.
15780958
2005
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
Anauxetic dysplasia
0.450
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
Anauxetic dysplasia
0.450
CausalMutation
CLINVAR
Identification of adenosine functional groups involved in substrate binding by the ribonuclease P ribozyme.
10026268
1999
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
Anauxetic dysplasia
0.450
GeneticVariation
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
Anauxetic dysplasia
0.450
CausalMutation
CLINVAR
RMRP mutations in Japanese patients with cartilage-hair hypoplasia.
14608646
2003
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
Anauxetic dysplasia
0.450
CausalMutation
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
Anauxetic dysplasia
0.450
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
Anauxetic dysplasia
0.450
GeneticVariation
CLINVAR
RMRP mutations in cartilage-hair hypoplasia.
16838329
2006
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
Anauxetic dysplasia
0.450
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
Anauxetic dysplasia
0.450
GeneticVariation
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
Anauxetic dysplasia
0.450
GeneticVariation
CLINVAR
RNase MRP RNA and human genetic diseases.
17189938
2007
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
Anauxetic dysplasia
0.450
CausalMutation
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
Anauxetic dysplasia
0.450
CausalMutation
CLINVAR
RMRP mutations in cartilage-hair hypoplasia.
16838329
2006
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
Anauxetic dysplasia
0.450
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
Anauxetic dysplasia
0.450
GeneticVariation
CLINVAR
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
16244706
2005
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
Anauxetic dysplasia
0.450
CausalMutation
CLINVAR
High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families.
8034306
1994
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
Anauxetic dysplasia
0.450
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
Anauxetic dysplasia
0.450
GeneticVariation
CLINVAR
Astrobiology. Putting a lid on life on Europa.
11701897
2001
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
Anauxetic dysplasia
0.450
GeneticVariation
CLINVAR
Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.
16254002
2005