SEMA3A, semaphorin 3A, 10371

N. diseases: 202; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.030 AlteredExpression disease BEFREE Here, we report that Sema3A and its receptor neuropilin-1 (Nrp1) are synchronously upregulated in cartilage chondrocytes of knee OA patients. 29111592 2018
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.030 AlteredExpression disease BEFREE Immunohistochemistry revealed the protein expression of Sema3A in synovial lining cells was decreased in RA tissues compared with OA samples. qPCR analysis demonstrated a significant reduction of Sema3A mRNA levels in RA synovial tissue samples than in OA and a significant correlation of the ratio of Sema3A/VEGF-A mRNA expression levels with DAS28-CRP (R = -0.449, p = 0.013). 23343469 2013
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.030 GeneticVariation disease BEFREE We have previously shown that the mutations p.R116W and p.C299S, associated with MED and SEMD, respectively, cause retention of matrilin-3 within the endoplasmic reticulum of primary chondrocytes, while the mutation associated with osteoarthritis, p.T298M, does not hinder secretion. 20077500 2010