DisGeNET - a database of gene-disease associations

Congenital amegakaryocytic thrombocytopenia, C1327915

Variant: rs1181555052 ×

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:

rs1181555052

rs1181555052

THPO

0.010

GeneticVariation

BEFREE

We identified a family with three children affected with CAMT caused by a homozygous mutation (p.R119C) of the <i>THPO</i> gene.

2018