DisGeNET - a database of gene-disease associations

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY, C4479431

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

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	6228
Gene Symbol:	RPS23

RPS23

0.700

Biomarker

disease

GENOMICS_ENGLAND

A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism.

2017

Entrez Id:	6228
Gene Symbol:	RPS23

RPS23

0.700

GeneticVariation

disease

UNIPROT

A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism.

2017

Entrez Id:	6228
Gene Symbol:	RPS23

RPS23

0.700

CausalMutation

disease

CLINVAR

Entrez Id:	6228
Gene Symbol:	RPS23

RPS23

0.700

Biomarker

disease

CTD_human

Entrez Id:	83734
Gene Symbol:	ATG10

ATG10

0.100

CausalMutation

disease

CLINVAR