DisGeNET - a database of gene-disease associations

Gene: RPL11 ×

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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:	6135
Gene Symbol:	RPL11

RPL11

CUI:	C4228778
Disease:	Abnormality of radial ray

Abnormality of radial ray

0.300

Biomarker

GENOMICS_ENGLAND

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.

2008