Gene: SLPI ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6590
Gene Symbol: SLPI
SLPI 		0.100 GeneticVariation disease BEFREE Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations. 23124896 2013
Entrez Id: 6590
Gene Symbol: SLPI
SLPI 		0.100 AlteredExpression disease BEFREE These findings indicate that the mutation causes truncation of the ALK-1 protein at the post-transcriptional level; the plasma thrombomodulin may provide an easy diagnostic indicator in HHT patients. 16861286 2006
Entrez Id: 6590
Gene Symbol: SLPI
SLPI 		0.100 GeneticVariation disease BEFREE To our knowledge, this is the first report on whole ALK1 gene deletions in HHT patients. 18312453 2008
Entrez Id: 6590
Gene Symbol: SLPI
SLPI 		0.100 GeneticVariation disease BEFREE We report three mutations in the coding sequence of the ALK1 gene in those families which show linkage of the ORW phenotype to chromosome 12. 8640225 1996