Marfan syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
MARFAN SYNDROME
154700C0024796MESH:D008382MONDO:0007947
FBN1 Causal
15235604 17657824 18178469 18212506 19430350 21909107 22772368 8428751 1631074 8504310 7611299 21594993 7762551 18412115 15032979 15287423 1301946 8040326 8430317 8101042 9101298 8406497 11175294 10766875 17492313 21594992 173665
CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO
LTBP2 Causal — Disgenet
TGFB2 Causal — CTD, Disgenet
TGFBR1 Causal — CTD, Disgenet
TGFBR2 Causal
15235604
CTD, Disgenet
All43 Causal5 Unknown41
Related Diseases Diseases that share the most curated genes with Marfan syndrome.
5 View disease cluster →
Thoracic aortic aneurysm and aortic dissection 28 shared genesFBN1, NOTCH1, JAG1, COL5A1, FBN2, PRKG1, SLC2A10, TGFB2, THSD4, FLNA, BGN, SMAD3 +16 more Related via 28 shared genes including FBN1, NOTCH1, JAG1. Congenital contractural arachnodactyly 18 shared genesFBN1, LTBP3, FBN2, SLC2A10, TGFB2, THSD4, BGN, SMAD3, COL3A1, TGFBR1, TGFBR2, LOX +6 more Related via 18 shared genes including FBN1, LTBP3, FBN2. Loeys-dietz syndrome 14 shared genesFBN1, COL5A1, FBN2, TGFB2, SMAD3, COL3A1, MYH11, TGFBR1, TGFBR2, MYLK, TGFB3, SMAD2 +2 more Related via 14 shared genes including FBN1, COL5A1, FBN2. familial thoracic aortic aneurysm and aortic dissection 11 shared genesFBN1, PRKG1, TGFB2, FLNA, BGN, MYH11, LOX, MYLK, MFAP5, TGFB3, MAT2A Related via 11 shared genes including FBN1, PRKG1, TGFB2. Aortic aneurysm 20 shared genesFBN1, ARIH1, FBN2, PRKG1, SLC2A10, TGFB2, THSD4, SOD2, FLNA, SMAD3, ACTA2, MMP9 +8 more Related via 20 shared genes including FBN1, ARIH1, FBN2.