DisGeNET - a database of gene-disease associations

CLPP, caseinolytic mitochondrial matrix peptidase proteolytic subunit, 8192

N. diseases: 17; N. variants: 4

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:

rs398123033

Entrez Id:	8192
Gene Symbol:	CLPP

CLPP

CUI:	C3808414
Disease:

PERRAULT SYNDROME 3

0.700

CausalMutation

CLINVAR

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.

23541340

2013

dbSNP:

rs398123034

Entrez Id:	8192
Gene Symbol:	CLPP

CLPP

CUI:	C3808414
Disease:

PERRAULT SYNDROME 3

0.700

CausalMutation

CLINVAR

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.

23541340

2013

dbSNP:

rs1555719766

Entrez Id:	8192
Gene Symbol:	CLPP

CLPP

CUI:	C3808414
Disease:

PERRAULT SYNDROME 3

0.700

CausalMutation

CLINVAR

dbSNP:

rs398123035

Entrez Id:	8192;125981
Gene Symbol:	CLPP;ACER1

CLPP;ACER1

CUI:	C3808414
Disease:

PERRAULT SYNDROME 3

0.700

CausalMutation

CLINVAR