DisGeNET - a database of gene-disease associations

RMRP, RNA component of mitochondrial RNA processing endoribonuclease, 6023

N. diseases: 239; N. variants: 77

Disease: Cartilage-hair hypoplasia ×

Variant: rs1554651393 ×

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:

rs1554651393

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

RMRP;CCDC107

CUI:	C0220748
Disease:

Cartilage-hair hypoplasia

ACGTCCTCAGC

0.700

GeneticVariation

CLINVAR

Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability.

17937437

2007

dbSNP:

rs1554651393

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

RMRP;CCDC107

CUI:	C0220748
Disease:

Cartilage-hair hypoplasia

ACGTCCTCAGC

0.700

GeneticVariation

CLINVAR

Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.

16254002

2005

dbSNP:

rs1554651393

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

RMRP;CCDC107

CUI:	C0220748
Disease:

Cartilage-hair hypoplasia

ACGTCCTCAGC

0.700

GeneticVariation

CLINVAR

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.

11207361

2001