Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.060 GeneticVariation BEFREE Compared to patients with Intracranial hypertension, the following CSF proteins: Extracellular Superoxide dismutase (ECSOD) at Cys195, α1-antitrypsin (A1AT) at Cys232, Phospholipid transfer protein (PLTP) at Cys318, Alpha-2-HS-glycoprotein at Cys340, Ectonucleotide pyrophosphate (ENPP-2) at Cys773, Gelsolin at Cys304, Interleukin-18 (IL-18) at Cys38 and Ig heavy chain V III region POM at Cys22 were found to be glutathionylated in patients with multiple sclerosis during a relapse. 30367882

2019

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.060 AlteredExpression BEFREE We detected 49 samples with discordant AAT levels; 44 had the MM and five the MS phenotype. 27877030

2016

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.060 AlteredExpression BEFREE We report two cases of AAT panniculitis with MS phenotype and normal AAT levels. 15389208

2004

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.060 GeneticVariation BEFREE Other genetic abnormalities have previously been found in AAT associated with multiple sclerosis, but not PiMS. 7639071

1995

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.060 Biomarker BEFREE Microheterogeneity of the glycoprotein alpha 1-antitrypsin has been investigated sequentially by high resolution isoelectric focusing in a child with the proteinase inhibitor MS phenotype after near-drowning. 2226554

1990

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.060 AlteredExpression BEFREE Since MZ heterozygotes are almost always, and MS phenotypes sometimes, associated with decreased serum alpha 1-AT levels, and since Z and MZ phenotypes are associated with increased hepatic fibrosis or cirrhosis, these variants may be relevant to problems of spontaneous fibrosis or methotrexate-induced hepatotoxicity in psoriasis. alpha 1-AT deficiency may also contribute to guttate flares with infection and to increased O-2 . production by psoriatic sera-stimulated polymorphonuclear leukocytes (PMNs). 6333440

1984