Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0263859
Disease: Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome
Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome 		0.310 Biomarker disease CTD_human In SAPHO syndrome, the activation of the PSTPIP2 inflammasome has been suggested to play a role in inducing the dysfunction of the innate immune system. 27106250 2016
CUI: C0263859
Disease: Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome
Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome 		0.310 GeneticVariation disease BEFREE We analyzed the PSTPIP2 gene in patients with SAPHO syndrome. 20032092 2010
CUI: C0410422
Disease: Chronic multifocal osteomyelitis
Chronic multifocal osteomyelitis 		0.040 GeneticVariation disease BEFREE Chronic recurrent multifocal osteomyelitis (CRMO) in humans can be modeled in <i>Pstpip2<sup>cmo</sup></i> mice, which carry a missense mutation in the proline-serine-threonine phosphatase-interacting protein 2 (<i>Pstpip2</i>) gene. 31719149 2020
CUI: C0410422
Disease: Chronic multifocal osteomyelitis
Chronic multifocal osteomyelitis 		0.040 Biomarker disease BEFREE New discoveries in CRMO: IL-1β, the neutrophil, and the microbiome implicated in disease pathogenesis in Pstpip2-deficient mice. 25894861 2015
CUI: C0410422
Disease: Chronic multifocal osteomyelitis
Chronic multifocal osteomyelitis 		0.040 GeneticVariation disease BEFREE The genes responsible for Majeed syndrome (LPIN2), murine chronic multifocal osteomyelitis (pstpip2), and cherubism (SH3BP2 and possibly PTPN11) have been identified. 17762617 2007
CUI: C0410422
Disease: Chronic multifocal osteomyelitis
Chronic multifocal osteomyelitis 		0.040 Biomarker disease BEFREE The roles played by LPIN2 and the human homolog of pstpip2, PSTPIP2, in the etiology of chronic recurrent multifocal osteomyelitis are uncertain but are currently being investigated. 17496555 2007
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis 		0.020 Biomarker disease BEFREE Past discoveries identified several single gene defects (LPIN2, Pstpip2 and IL1RN) that cause IL-1-mediated sterile multifocal osteomyelitis.Recently Lorden et al. 29912021 2018
CUI: C1290884
Disease: Inflammatory disorder
Inflammatory disorder 		0.020 Biomarker group BEFREE Proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2) is an adaptor protein, which is associated with auto-inflammatory disease. 30564127 2018
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis 		0.020 Biomarker disease BEFREE This addendum reviews the current literature on the Pstpip2<sup>cmo</sup> murine disease model and the clinical significance of the role of PSTPIP2 in regulating autoinflammatory osteomyelitis, which is mediated by innate components of immune cells. 27148834 2016
CUI: C1290884
Disease: Inflammatory disorder
Inflammatory disorder 		0.020 Biomarker group BEFREE Thus, our data uncover a previously unappreciated antagonism between different F-BAR domain assemblies that determines the threshold of actin polymerization for the formation of functional podosomes and may explain how the absence of PSTPIP2 causes auto-inflammatory disorder. 23525018 2013
CUI: C1864997
Disease: Majeed syndrome
Majeed syndrome 		0.020 Biomarker disease BEFREE In a cohort of 38 patients with SAPHO we analyzed PSTPIP2 and 2 other candidate genes, NOD2/CARD15 (Crohn's disease occurs in about 10% of SAPHO patients), and LPIN2 (clinical similarities of SAPHO with Majeed syndrome). 20032092 2010
CUI: C1864997
Disease: Majeed syndrome
Majeed syndrome 		0.020 GeneticVariation disease BEFREE The genes responsible for Majeed syndrome (LPIN2), murine chronic multifocal osteomyelitis (pstpip2), and cherubism (SH3BP2 and possibly PTPN11) have been identified. 17762617 2007
CUI: C0003864
Disease: Arthritis
Arthritis 		0.010 Biomarker disease BEFREE We showed that administration of AAV-PSTPIP2 before arthritis onset significantly reduces the severity of AIA. 31325437 2019
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 AlteredExpression disease BEFREE AIA rats were found to have decreased PSTPIP2 expression and AIA-associated bone loss and inflammatory infiltration. 31325437 2019
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 Biomarker disease BEFREE We further investigated the function of PSTPIP2 in HF by hepatic-adeno-associated virus (AAV9)-PSTPIP2 overexpression. 29993036 2018
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 Biomarker disease BEFREE The present study indicated that APH1B, JAM3, FBLN2, CSAD and PSTPIP2 may have important roles in the progression of atherosclerosis in females and may be potential biomarkers for early diagnosis and prognosis as well as treatment targets for this disease. 27573188 2016
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 Biomarker disease BEFREE The present study indicated that APH1B, JAM3, FBLN2, CSAD and PSTPIP2 may have important roles in the progression of atherosclerosis in females and may be potential biomarkers for early diagnosis and prognosis as well as treatment targets for this disease. 27573188 2016
CUI: C3267073
Disease: Autoinflammatory disease
Autoinflammatory disease 		0.010 Biomarker disease BEFREE A leucine-to-proline missense mutation at residue 98 in the proline-serine-threonine phosphatase interacting protein 2 (Pstpip2) gene leads to autoinflammatory disease that is characterized by splenomegaly, necrosis, and spontaneous development of osteomyelitis in mice (Pstpip2<sup>cmo</sup>). 27148834 2016
CUI: C0008029
Disease: Cherubism
Cherubism 		0.010 Biomarker disease BEFREE The genes responsible for Majeed syndrome (LPIN2), murine chronic multifocal osteomyelitis (pstpip2), and cherubism (SH3BP2 and possibly PTPN11) have been identified. 17762617 2007