DisGeNET - a database of gene-disease associations

Gene: RPL27 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	6155
Gene Symbol:	RPL27

RPL27

CUI:	C1260899
Disease:	Anemia, Diamond-Blackfan

Anemia, Diamond-Blackfan

0.510

GeneticVariation

ORPHANET

Here, we identified a de novo splicing error mutation in RPL27 and frameshift deletion in RPS27 in sporadic patients with Diamond-Blackfan anaemia.

2015