TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: Protein C Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.010 GeneticVariation disease BEFREE A CGA----TGA transition in the protein C gene, resulting in an Arg306----Term substitution, was detected in a Swedish kindred with thrombotic disease whose members exhibit plasma protein C activity/antigen levels consistent with type I protein C deficiency. 1348046 1992