DisGeNET - a database of gene-disease associations

RMRP, RNA component of mitochondrial RNA processing endoribonuclease, 6023

N. diseases: 239; N. variants: 77

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1554651489

Entrez Id:	6023;203260
Gene Symbol:	RMRP;CCDC107

RMRP;CCDC107

CUI:	C1846796
Disease:

Anauxetic dysplasia

AGCTTCACAGAGTAG

0.700

GeneticVariation

CLINVAR

Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype.

28094436

2017

dbSNP:

rs751921616

Entrez Id:	6023;203260
Gene Symbol:	RMRP;CCDC107

RMRP;CCDC107

CUI:	C0220748
Disease:

Cartilage-hair hypoplasia

CAGCTTCACAGAGT

0.700

GeneticVariation

CLINVAR

Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation.

28743979

2017

dbSNP:

rs551450545

Entrez Id:	6023;203260
Gene Symbol:	RMRP;CCDC107

RMRP;CCDC107

CUI:	C0220748
Disease:

Cartilage-hair hypoplasia

0.700

GeneticVariation

CLINVAR

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.

27569544

2016

dbSNP:

rs1554651153

Entrez Id:	6023;203260
Gene Symbol:	RMRP;CCDC107

RMRP;CCDC107

CUI:	C0220748
Disease:

Cartilage-hair hypoplasia

0.700

GeneticVariation

CLINVAR

CHIPS for genetic testing to improve a regional clinical genetic service.

25046119

2015

dbSNP:

rs551450545

Entrez Id:	6023;203260
Gene Symbol:	RMRP;CCDC107

RMRP;CCDC107

CUI:	C0220748
Disease:

Cartilage-hair hypoplasia

0.700

GeneticVariation

CLINVAR

Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.

25663137

2015

dbSNP:

rs551450545

Entrez Id:	6023;203260
Gene Symbol:	RMRP;CCDC107

RMRP;CCDC107

CUI:	C1846796
Disease:

Anauxetic dysplasia

0.700

GeneticVariation

CLINVAR

Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.

25663137

2015

dbSNP:

rs727502776

Entrez Id:	6023;203260
Gene Symbol:	RMRP;CCDC107

RMRP;CCDC107

CUI:	C0220748
Disease:

Cartilage-hair hypoplasia

AGCTTCACAGAGTAGT

0.700

GeneticVariation

CLINVAR

[Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases].

25616543

2015

dbSNP:

rs727502776

Entrez Id:	6023;203260
Gene Symbol:	RMRP;CCDC107

RMRP;CCDC107

CUI:	C1846796
Disease:

Anauxetic dysplasia

AGCTTCACAGAGTAGT

0.700

GeneticVariation

CLINVAR

[Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases].

25616543

2015

dbSNP:

rs727502776

Entrez Id:	6023;203260
Gene Symbol:	RMRP;CCDC107

RMRP;CCDC107

CUI:	C0220748
Disease:

Cartilage-hair hypoplasia

AGCTTCACAGAGTAGT

0.700

GeneticVariation

CLINVAR

Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.

25663137

2015

dbSNP:

rs772443941

Entrez Id:	6023;203260
Gene Symbol:	RMRP;CCDC107

RMRP;CCDC107

CUI:	C0220748
Disease:

Cartilage-hair hypoplasia

0.700

CausalMutation

CLINVAR

Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.

25663137

2015

dbSNP:

rs1554651508

Entrez Id:	6023;203260
Gene Symbol:	RMRP;CCDC107

RMRP;CCDC107

CUI:	C1846796
Disease:

Anauxetic dysplasia

TTCACAGAGTAGTA

0.700

GeneticVariation

CLINVAR

Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature.

24217815

2014

dbSNP:

rs1554651153

Entrez Id:	6023;203260
Gene Symbol:	RMRP;CCDC107

RMRP;CCDC107

CUI:	C0220748
Disease:

Cartilage-hair hypoplasia

0.700

GeneticVariation

CLINVAR

RNAsnp: efficient detection of local RNA secondary structure changes induced by SNPs.

23315997

2013

dbSNP:

rs551450545

Entrez Id:	6023;203260
Gene Symbol:	RMRP;CCDC107

RMRP;CCDC107

CUI:	C0220748
Disease:

Cartilage-hair hypoplasia

0.700

GeneticVariation

CLINVAR

RNase MRP and disease.

21956908

2012

dbSNP:

rs1554651404

Entrez Id:	6023;203260
Gene Symbol:	RMRP;CCDC107

RMRP;CCDC107

CUI:	C1846796
Disease:

Anauxetic dysplasia

ACGTCCTCAGCTTCACAGAG

0.700

GeneticVariation

CLINVAR

Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.

21570718

2011

dbSNP:

rs1554651413

Entrez Id:	6023;203260
Gene Symbol:	RMRP;CCDC107

RMRP;CCDC107

CUI:	C1846796
Disease:

Anauxetic dysplasia

CGTCCTCAGCTTCACAGAGTAGTA

0.700

GeneticVariation

CLINVAR

Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.

21570718

2011

dbSNP:

rs1554651508

Entrez Id:	6023;203260
Gene Symbol:	RMRP;CCDC107

RMRP;CCDC107

CUI:	C1846796
Disease:

Anauxetic dysplasia

TTCACAGAGTAGTA

0.700

GeneticVariation

CLINVAR

Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.

21570718

2011

dbSNP:

rs1554651508

Entrez Id:	6023;203260
Gene Symbol:	RMRP;CCDC107

RMRP;CCDC107

CUI:	C1846796
Disease:

Anauxetic dysplasia

TTCACAGAGTAGTA

0.700

GeneticVariation

CLINVAR

The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum.

21396580

2011

dbSNP:

rs1563907686

Entrez Id:	6023;203260
Gene Symbol:	RMRP;CCDC107

RMRP;CCDC107

CUI:	C1846796
Disease:

Anauxetic dysplasia

AACCACGTCCTCAGCTTCACAGAGTAGTATTTTATAG

0.700

GeneticVariation

CLINVAR

Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.

21570718

2011

dbSNP:

rs551450545

Entrez Id:	6023;203260
Gene Symbol:	RMRP;CCDC107

RMRP;CCDC107

CUI:	C0220748
Disease:

Cartilage-hair hypoplasia

0.700

GeneticVariation

CLINVAR

The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum.

21396580

2011

dbSNP:

rs727502777

Entrez Id:	6023;203260
Gene Symbol:	RMRP;CCDC107

RMRP;CCDC107

CUI:	C0220748
Disease:

Cartilage-hair hypoplasia

CCTCAGCTTCACAGAGTA

0.700

GeneticVariation

CLINVAR

Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.

21570718

2011

dbSNP:

rs920074067

Entrez Id:	6023;203260
Gene Symbol:	RMRP;CCDC107

RMRP;CCDC107

CUI:	C0220748
Disease:

Cartilage-hair hypoplasia

CTCAGCTTCACAGAGTAG

0.700

GeneticVariation

CLINVAR

Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.

21570718

2011

dbSNP:

rs1156413585

Entrez Id:	6023;203260
Gene Symbol:	RMRP;CCDC107

RMRP;CCDC107

CUI:	C0220748
Disease:

Cartilage-hair hypoplasia

0.700

GeneticVariation

CLINVAR

Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation.

20375313

2010

dbSNP:

rs1554651499

Entrez Id:	6023;203260
Gene Symbol:	RMRP;CCDC107

RMRP;CCDC107

CUI:	C0220748
Disease:

Cartilage-hair hypoplasia

CTTCACAGAGTAGTA

0.700

GeneticVariation

CLINVAR

Novel mutation in boy with cartilage-hair hypoplasia.

21146796

2010

dbSNP:

rs1554651543

Entrez Id:	6023;203260
Gene Symbol:	RMRP;CCDC107

RMRP;CCDC107

CUI:	C1846796
Disease:

Anauxetic dysplasia

AGAGTAGT

0.700

GeneticVariation

CLINVAR

An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency.

21063072

2010

dbSNP:

rs1554651543

Entrez Id:	6023;203260
Gene Symbol:	RMRP;CCDC107

RMRP;CCDC107

CUI:	C0220748
Disease:

Cartilage-hair hypoplasia

AGAGTAGT

0.700

CausalMutation

CLINVAR

An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency.

21063072

2010