DisGeNET - a database of gene-disease associations

RPS29, ribosomal protein S29, 6235

N. diseases: 32; N. variants: 2

Disease: DIAMOND-BLACKFAN ANEMIA 13 ×

Source: ALL

Results per page

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:	C4014641
Disease:	DIAMOND-BLACKFAN ANEMIA 13

DIAMOND-BLACKFAN ANEMIA 13

0.700

Biomarker

disease

GENOMICS_ENGLAND

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.

24829207

2014

CUI:	C4014641
Disease:	DIAMOND-BLACKFAN ANEMIA 13

DIAMOND-BLACKFAN ANEMIA 13

0.700

Biomarker

disease

GENOMICS_ENGLAND

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.

24829207

2014

CUI:	C4014641
Disease:	DIAMOND-BLACKFAN ANEMIA 13

DIAMOND-BLACKFAN ANEMIA 13

0.700

GeneticVariation

disease

UNIPROT

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.

24829207

2014

CUI:	C4014641
Disease:	DIAMOND-BLACKFAN ANEMIA 13

DIAMOND-BLACKFAN ANEMIA 13

0.700

CausalMutation

disease

CLINVAR

CUI:	C4014641
Disease:	DIAMOND-BLACKFAN ANEMIA 13

DIAMOND-BLACKFAN ANEMIA 13

0.700

Biomarker

disease

CTD_human