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: rs199476103 ×

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:

rs199476103

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

RMRP;CCDC107

CUI:	C0220748
Disease:

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

dbSNP:

rs199476103

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

RMRP;CCDC107

CUI:	C0220748
Disease:

Cartilage-hair hypoplasia

0.700

CausalMutation

CLINVAR

RMRP mutations in cartilage-hair hypoplasia.

16838329

2006

dbSNP:

rs199476103

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

RMRP;CCDC107

CUI:	C0220748
Disease:

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