SH2B2, SH2B adaptor protein 2, 10603

N. diseases: 59; N. variants: 1
Disease: Catastrophic antiphospholipid syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3662487
Disease: Catastrophic antiphospholipid syndrome
Catastrophic antiphospholipid syndrome 		0.020 GeneticVariation disease BEFREE Catastrophic antiphospholipid syndrome (CAPS) is a rare variant that accounts for 1% of patients with APS. 28488841 2017
CUI: C3662487
Disease: Catastrophic antiphospholipid syndrome
Catastrophic antiphospholipid syndrome 		0.020 GeneticVariation disease BEFREE Catastrophic antiphospholipid syndrome (CAPS) is a severe variant of APS, characterised by clinical evidence of multiple organ involvement developing over a very short period of time, histopathological evidence of multiple small vessel occlusions and laboratory confirmation of the presence of aPL (lupus anticoagulant and/or anticardiolipin antibodies and/or anti-Beta2-glcyoprotein I antibodies). 28516871 2017