DisGeNET - a database of gene-disease associations

POP1, POP1 homolog, ribonuclease P/MRP subunit, 10940

N. diseases: 30; N. variants: 6

Disease: ANAUXETIC DYSPLASIA 2 ×

Variant: rs1060505025 ×

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:

rs1060505025

Entrez Id:	10940
Gene Symbol:	POP1

POP1

CUI:	C4479357
Disease:

ANAUXETIC DYSPLASIA 2

0.800

GeneticVariation

UNIPROT

Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.

28067412

2017

dbSNP:

rs1060505025

Entrez Id:	10940
Gene Symbol:	POP1

POP1

CUI:	C4479357
Disease:

ANAUXETIC DYSPLASIA 2

0.800

GeneticVariation

UNIPROT

Further evidence of POP1 mutations as the cause of anauxetic dysplasia.

27380734

2016

dbSNP:

rs1060505025

Entrez Id:	10940
Gene Symbol:	POP1

POP1

CUI:	C4479357
Disease:

ANAUXETIC DYSPLASIA 2

0.800

GeneticVariation

UNIPROT

Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia.

21455487

2011

dbSNP:

rs1060505025

Entrez Id:	10940
Gene Symbol:	POP1

POP1

CUI:	C4479357
Disease:

ANAUXETIC DYSPLASIA 2

0.800

CausalMutation

CLINVAR