DisGeNET - a database of gene-disease associations

DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, C4225411

Gene: RPS28 ×

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

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	6234
Gene Symbol:	RPS28

RPS28

0.600

Biomarker

disease

GENOMICS_ENGLAND

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.

2014

Entrez Id:	6234
Gene Symbol:	RPS28

RPS28

0.600

Biomarker

disease

CTD_human

Entrez Id:	6234
Gene Symbol:	RPS28

RPS28

0.600

CausalMutation

disease

CLINVAR