DisGeNET - a database of gene-disease associations

RPL27, ribosomal protein L27, 6155

N. diseases: 23; N. variants: 0

Disease: DIAMOND-BLACKFAN ANEMIA 16 ×

Source: ALL

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C4479424
Disease:	DIAMOND-BLACKFAN ANEMIA 16

DIAMOND-BLACKFAN ANEMIA 16

0.500

Biomarker

disease

GENOMICS_ENGLAND

Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.

25424902

2015

CUI:	C4479424
Disease:	DIAMOND-BLACKFAN ANEMIA 16

DIAMOND-BLACKFAN ANEMIA 16

0.500

Biomarker

disease

GENOMICS_ENGLAND

Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.

25424902

2015

CUI:	C4479424
Disease:	DIAMOND-BLACKFAN ANEMIA 16

DIAMOND-BLACKFAN ANEMIA 16

0.500

Biomarker

disease

CTD_human