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: rs769183311 ×

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:

rs769183311

rs769183311

Entrez Id:	10940
Gene Symbol:	POP1

POP1

CUI:	C4479357
Disease:

ANAUXETIC DYSPLASIA 2

T

0.700

CausalMutation

CLINVAR