DisGeNET - a database of gene-disease associations

Progeroid Syndrome, Congenital, Petty Type, C2676780

Variant: rs1553253990 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1553253990

rs1553253990

SLC25A24

0.800

GeneticVariation

UNIPROT

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

2017

dbSNP:

rs1553253990

rs1553253990

SLC25A24

A

0.800

CausalMutation

CLINVAR