SERPIND1, serpin family D member 1, 3053

N. diseases: 60; N. variants: 5
Disease: Heparin cofactor II deficiency (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398626
Disease: Heparin cofactor II deficiency (disorder)
Heparin cofactor II deficiency (disorder) 		0.700 GeneticVariation disease UNIPROT Homozygous deficiency of heparin cofactor II: relevance of P17 glutamate residue in serpins, relationship with conformational diseases, and role in thrombosis. 15337701 2004
CUI: C0398626
Disease: Heparin cofactor II deficiency (disorder)
Heparin cofactor II deficiency (disorder) 		0.700 GeneticVariation disease UNIPROT Molecular mechanism of type I congenital heparin cofactor (HC) II deficiency caused by a missense mutation at reactive P2 site: HC II Tokushima. 11204559 2001
CUI: C0398626
Disease: Heparin cofactor II deficiency (disorder)
Heparin cofactor II deficiency (disorder) 		0.700 GeneticVariation disease UNIPROT Characterization of single-nucleotide polymorphisms in coding regions of human genes. 10391209 1999
CUI: C0398626
Disease: Heparin cofactor II deficiency (disorder)
Heparin cofactor II deficiency (disorder) 		0.700 GeneticVariation disease UNIPROT Heparin cofactor IIOslo. Mutation of Arg-189 to His decreases the affinity for dermatan sulfate. 2647747 1989
CUI: C0398626
Disease: Heparin cofactor II deficiency (disorder)
Heparin cofactor II deficiency (disorder) 		0.700 Biomarker disease CTD_human
CUI: C0398626
Disease: Heparin cofactor II deficiency (disorder)
Heparin cofactor II deficiency (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0398626
Disease: Heparin cofactor II deficiency (disorder)
Heparin cofactor II deficiency (disorder) 		0.700 CausalMutation disease CLINVAR