DisGeNET - a database of gene-disease associations

CLP1, cleavage factor polyribonucleotide kinase subunit 1, 10978

N. diseases: 58; N. variants: 2

Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 ×

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:

rs587777616

Entrez Id:	10978
Gene Symbol:	CLP1

CLP1

CUI:	C4014347
Disease:

PONTOCEREBELLAR HYPOPLASIA, TYPE 10

0.800

CausalMutation

CLINVAR

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.

24766810

2014

dbSNP:

rs587777616

Entrez Id:	10978
Gene Symbol:	CLP1

CLP1

CUI:	C4014347
Disease:

PONTOCEREBELLAR HYPOPLASIA, TYPE 10

0.800

GeneticVariation

UNIPROT

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.

24766810

2014

dbSNP:

rs587777616

Entrez Id:	10978
Gene Symbol:	CLP1

CLP1

CUI:	C4014347
Disease:

PONTOCEREBELLAR HYPOPLASIA, TYPE 10

0.800

GeneticVariation

UNIPROT

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.

24766809

2014

dbSNP:

rs587777616

Entrez Id:	10978
Gene Symbol:	CLP1

CLP1

CUI:	C4014347
Disease:

PONTOCEREBELLAR HYPOPLASIA, TYPE 10

0.800

CausalMutation

CLINVAR

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.

24766809

2014

dbSNP:

rs587777616

Entrez Id:	10978
Gene Symbol:	CLP1

CLP1

CUI:	C4014347
Disease:

PONTOCEREBELLAR HYPOPLASIA, TYPE 10

0.800

GeneticVariation

CLINVAR