Disease Clusters?

Groups of diseases that share a large number of curated genes with each other, computed via label propagation over the shared-gene similarity graph. See also Shared-Gene Disease Pairs for pairwise comparisons.

← Back to all clusters

Cluster 50

16 diseases · 36 shared-gene connections
16 Diseases
271 Unique genes
0.173 Avg. similarity score
Marfan syndrome Most-connected disease (9 links)
Log in to save this analysis

Save This Analysis

Disease Pinned (dragged)
Node size = connections within this cluster · edge thickness = similarity strength · hover an edge for its details · click a node to select it and show its pairs below (double-click or Ctrl/⌘-click opens the disease page) · drag a node to pin it in place · scroll/pinch to zoom.

Member diseases (most connected first ‐ the cluster's core)

Disease ⇵ Connections in cluster ⇵ Significant partners ⇵ Curated genes ⇵
Marfan syndrome 9 9 43
Congenital contractural arachnodactyly 8 8 29
Thoracic aortic aneurysm and aortic dissection 8 8 41
Aortic aneurysm 7 7 62
Ehlers-danlos syndrome 7 7 44
Loeys-dietz syndrome 7 7 16
familial thoracic aortic aneurysm and aortic dissection 5 5 12
Congenital aneurysm of ascending aorta 4 4 12
Aneurysm 3 3 27
Keratoconus 3 3 111
Boudin-mortier syndrome 2 2 1
Mitral valve prolapse 2 2 47
Vitreous body disease 2 2 2
loeys-dietz syndrome 6 2 2 1
neonatal/infantile epilepsy syndrome 2 2 1
ehlers-danlos syndrome, musculocontractural type 2 1 1 1

Top shared genes (genes linked to 2+ member diseases)

Gene ⇵ Member diseases ⇵ Linked diseases
FBN1 10 / 16 Aneurysm, Aortic aneurysm, Congenital aneurysm of ascending aorta, Congenital contractural arachnodactyly and 6 more
SMAD3 9 / 16 Aneurysm, Aortic aneurysm, Congenital aneurysm of ascending aorta, Congenital contractural arachnodactyly and 5 more
LOX 8 / 16 Aortic aneurysm, Congenital aneurysm of ascending aorta, Congenital contractural arachnodactyly, Ehlers-danlos syndrome and 4 more
COL3A1 7 / 16 Aortic aneurysm, Congenital aneurysm of ascending aorta, Congenital contractural arachnodactyly, Ehlers-danlos syndrome and 3 more
MYH11 7 / 16 Aortic aneurysm, Congenital aneurysm of ascending aorta, Ehlers-danlos syndrome, familial thoracic aortic aneurysm and aortic dissection and 3 more
TGFB2 7 / 16 Aortic aneurysm, Congenital contractural arachnodactyly, Ehlers-danlos syndrome, familial thoracic aortic aneurysm and aortic dissection and 3 more
TGFBR2 7 / 16 Aortic aneurysm, Congenital aneurysm of ascending aorta, Congenital contractural arachnodactyly, Ehlers-danlos syndrome and 3 more
COL5A1 6 / 16 Ehlers-danlos syndrome, Keratoconus, Loeys-dietz syndrome, Marfan syndrome and 2 more
FBN2 6 / 16 Aortic aneurysm, Congenital contractural arachnodactyly, Ehlers-danlos syndrome, Loeys-dietz syndrome and 2 more
FLNA 6 / 16 Aortic aneurysm, Ehlers-danlos syndrome, familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome and 2 more
MYLK 6 / 16 Aortic aneurysm, Congenital aneurysm of ascending aorta, familial thoracic aortic aneurysm and aortic dissection, Loeys-dietz syndrome and 2 more
TGFBR1 6 / 16 Aortic aneurysm, Congenital contractural arachnodactyly, Ehlers-danlos syndrome, Loeys-dietz syndrome and 2 more
COL5A2 5 / 16 Ehlers-danlos syndrome, Keratoconus, Loeys-dietz syndrome, Marfan syndrome and 1 more
MFAP5 5 / 16 Aortic aneurysm, Congenital contractural arachnodactyly, familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome and 1 more
PLOD1 5 / 16 Congenital contractural arachnodactyly, Ehlers-danlos syndrome, Keratoconus, Mitral valve prolapse and 1 more
SLC2A10 5 / 16 Aortic aneurysm, Congenital contractural arachnodactyly, Ehlers-danlos syndrome, Marfan syndrome and 1 more
SMAD2 5 / 16 Congenital contractural arachnodactyly, Loeys-dietz syndrome, loeys-dietz syndrome 6, Marfan syndrome and 1 more
TGFB3 5 / 16 Congenital contractural arachnodactyly, familial thoracic aortic aneurysm and aortic dissection, Loeys-dietz syndrome, Marfan syndrome and 1 more
ACTA2 4 / 16 Aneurysm, Aortic aneurysm, Marfan syndrome, Thoracic aortic aneurysm and aortic dissection
BGN 4 / 16 Congenital contractural arachnodactyly, familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Thoracic aortic aneurysm and aortic dissection
COL1A1 4 / 16 Ehlers-danlos syndrome, Keratoconus, Marfan syndrome, Thoracic aortic aneurysm and aortic dissection
FOXE3 4 / 16 Aortic aneurysm, Congenital aneurysm of ascending aorta, familial thoracic aortic aneurysm and aortic dissection, Thoracic aortic aneurysm and aortic dissection
PRKG1 4 / 16 Aortic aneurysm, familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Thoracic aortic aneurysm and aortic dissection
THSD4 4 / 16 Aortic aneurysm, Congenital contractural arachnodactyly, Marfan syndrome, Thoracic aortic aneurysm and aortic dissection
DAB2IP 3 / 16 Aneurysm, Aortic aneurysm, Keratoconus
EFEMP2 3 / 16 Aortic aneurysm, Congenital contractural arachnodactyly, Thoracic aortic aneurysm and aortic dissection
IPO8 3 / 16 Congenital contractural arachnodactyly, Loeys-dietz syndrome, Marfan syndrome
KCNH5 3 / 16 Aneurysm, Aortic aneurysm, neonatal/infantile epilepsy syndrome
LTBP3 3 / 16 Congenital contractural arachnodactyly, Marfan syndrome, Mitral valve prolapse
MAT2A 3 / 16 familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Thoracic aortic aneurysm and aortic dissection
NCKAP5 3 / 16 Aneurysm, Aortic aneurysm, Vitreous body disease
NDE1 3 / 16 Aortic aneurysm, Congenital aneurysm of ascending aorta, Thoracic aortic aneurysm and aortic dissection
NOTCH1 3 / 16 Ehlers-danlos syndrome, Marfan syndrome, Thoracic aortic aneurysm and aortic dissection
NPR3 3 / 16 Boudin-mortier syndrome, Congenital contractural arachnodactyly, Marfan syndrome
SKI 3 / 16 Aortic aneurysm, Congenital contractural arachnodactyly, Thoracic aortic aneurysm and aortic dissection
SRFBP1 3 / 16 Aortic aneurysm, Congenital aneurysm of ascending aorta, Thoracic aortic aneurysm and aortic dissection
ADAMTS8 2 / 16 Aneurysm, Aortic aneurysm
AEBP1 2 / 16 Congenital contractural arachnodactyly, Ehlers-danlos syndrome
AGT 2 / 16 Aortic aneurysm, Mitral valve prolapse
APOE 2 / 16 Aneurysm, Aortic aneurysm
ARIH1 2 / 16 Aortic aneurysm, Marfan syndrome
CAST 2 / 16 Aneurysm, Aortic aneurysm
CBS 2 / 16 Congenital contractural arachnodactyly, Thoracic aortic aneurysm and aortic dissection
CDKN1A 2 / 16 Aneurysm, Aortic aneurysm
CELSR2 2 / 16 Aneurysm, Aortic aneurysm
COL12A1 2 / 16 Ehlers-danlos syndrome, Keratoconus
COL2A1 2 / 16 Congenital aneurysm of ascending aorta, Marfan syndrome
CSMD1 2 / 16 Aneurysm, Aortic aneurysm
DOT1L 2 / 16 Aneurysm, Aortic aneurysm
DSE 2 / 16 Ehlers-danlos syndrome, ehlers-danlos syndrome, musculocontractural type 2
ELN 2 / 16 Aortic aneurysm, Thoracic aortic aneurysm and aortic dissection
FKBP14 2 / 16 Congenital contractural arachnodactyly, Ehlers-danlos syndrome
GDF7 2 / 16 Aneurysm, Aortic aneurysm
HCN4 2 / 16 Marfan syndrome, Thoracic aortic aneurysm and aortic dissection
HEY2 2 / 16 Marfan syndrome, Thoracic aortic aneurysm and aortic dissection
JAG1 2 / 16 Marfan syndrome, Thoracic aortic aneurysm and aortic dissection
LPA 2 / 16 Aneurysm, Aortic aneurysm
LRP1 2 / 16 Aneurysm, Aortic aneurysm
LTBP2 2 / 16 Marfan syndrome, Mitral valve prolapse
MED12 2 / 16 Ehlers-danlos syndrome, Thoracic aortic aneurysm and aortic dissection
MMP13 2 / 16 Aneurysm, Aortic aneurysm
MMP2 2 / 16 Aortic aneurysm, Marfan syndrome
MMP9 2 / 16 Aortic aneurysm, Marfan syndrome
MRC2 2 / 16 Aneurysm, Aortic aneurysm
PLCE1 2 / 16 Aneurysm, Aortic aneurysm
PMEPA1 2 / 16 Congenital contractural arachnodactyly, Marfan syndrome
PSRC1 2 / 16 Aneurysm, Aortic aneurysm
ROBO4 2 / 16 Aortic aneurysm, Thoracic aortic aneurysm and aortic dissection
SLC39A13 2 / 16 Ehlers-danlos syndrome, Mitral valve prolapse
SMAD4 2 / 16 Marfan syndrome, Thoracic aortic aneurysm and aortic dissection
SOD2 2 / 16 Aortic aneurysm, Marfan syndrome
SPSB1 2 / 16 Aneurysm, Aortic aneurysm
THSD1 2 / 16 Aneurysm, Aortic aneurysm
ZNF335 2 / 16 Aneurysm, Aortic aneurysm
ZNF469 2 / 16 Ehlers-danlos syndrome, Keratoconus
ZPR1 2 / 16 Aneurysm, Aortic aneurysm
What do these columns mean?
Connections in cluster
How many other members this disease has a shared-gene link to (the node size in the network above). The most-connected diseases are the cluster's core.
Significant partners
How many of those links are statistically significant (FDR q < 0.05).
Curated genes
Distinct curated genes linked to that disease in GeDiPNet.
Member diseases (Top shared genes)
How many of this cluster's diseases are linked to the gene, out of the cluster's total. Genes shared by many members are the most direct explanation of why they group together.
Overlap genes (x / y)
x = genes shared between this cluster and the pathway/GO term; y = that pathway/GO term's total gene count. A higher x relative to y (and to the cluster's own size) means a tighter biological match.
Cluster gene count
Total distinct genes across every disease in this cluster -- the "n" used in the significance test below.
Fold enrichment
Observed overlap divided by the overlap expected by chance, given the cluster's gene count, the pathway/term's size and the gene universe tested. 5× means five times more shared genes than random. Tells strong hits apart when q-values are all vanishingly small.
P-value / FDR q-value
Is this pathway/GO term's overlap with the cluster more than chance? Upper-tail hypergeometric test, Benjamini-Hochberg corrected across every tested pathway/term (prefer the q-value -- it accounts for testing many at once).
Shared genes (Pairs within this cluster)
Number of curated genes the two diseases in that row have in common.
Similarity score (Pairs within this cluster)
Jaccard-based gene overlap between the two specific diseases in that row -- same metric as the main Shared-Gene Disease Pairs page.

Enriched Pathways (why this cluster is grouped, biologically)

Pathway ⇵ Source ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
Collagen degradation
MMP1, MMP13, COL3A1, MMP9, MMP14, MMP2, COL1A1, COL5A1, COL5A2, COL1A2, COL2A1, COL12A1
 Reactome 17 / 52 14.5× 6.68e-16 2.66e-13 ✓ sig.
AGE-RAGE signaling pathway in diabetic complications
IL6, PLCE1, SMAD3, AGT, COL3A1, TGFB2, TGFBR1, TGFBR2, AGTR1, MMP2, COL1A1, COL1A2
 KEGG 20 / 101 8.8× 7.57e-14 1.97e-11 ✓ sig.
Assembly of collagen fibrils and other multimeric structures
MMP13, COL3A1, MMP9, COL1A1, COL5A1, COL5A2, COL1A2, COL2A1, COL12A1, COL4A1, COL4A3, COL5A3
 Reactome 14 / 51 12.2× 3.89e-12 7.54e-10 ✓ sig.
Extracellular matrix organization
COL3A1, COL1A1, COL5A1, COL5A2, COL1A2, COL2A1, COL4A1, COL4A3, COL5A3
 Reactome 9 / 15 26.6× 5.91e-12 1.11e-9 ✓ sig.
Collagen biosynthesis and modifying enzymes
COL3A1, COL1A1, COL5A1, COL5A2, COL1A2, COL2A1, PLOD1, ADAMTS2, COL12A1, COL4A1, COL4A3, COL5A3
 Reactome 15 / 67 9.9× 1.65e-11 2.80e-9 ✓ sig.
Collagen chain trimerization
COL3A1, COL1A1, COL5A1, COL5A2, COL1A2, COL2A1, COL12A1, COL4A1, COL4A3, COL5A3, COL6A1, COL8A2
 Reactome 12 / 44 12.1× 1.52e-10 2.11e-8 ✓ sig.
Molecules associated with elastic fibres
FBN1, EFEMP2, ELN, TGFB2, FBN2, MFAP5, EFEMP1, EMILIN1, LTBP3, TGFB3, LTBP2
 Reactome 11 / 38 12.8× 4.42e-10 5.45e-8 ✓ sig.
Pathways in cancer
CDKN1A, IL6, MMP1, SMAD3, AGT, IL13RA1, IL6R, MMP9, TGFB2, TGFBR1, TGFBR2, AGTR1
 KEGG 37 / 533 3.1× 9.33e-10 1.05e-7 ✓ sig.
Non-integrin membrane-ECM interactions
COL3A1, COL1A1, COL5A1, COL5A2, COL1A2, COL2A1, COL4A1, COL4A3, COL5A3
 Reactome 9 / 24 16.6× 1.29e-9 1.39e-7 ✓ sig.
NCAM1 interactions
COL3A1, COL5A1, COL5A2, COL2A1, COL4A1, COL4A3, COL5A3, COL6A1
 Reactome 8 / 21 16.9× 9.57e-9 8.39e-7 ✓ sig.
MET activates PTK2 signaling
COL3A1, COL1A1, COL5A1, COL5A2, COL1A2, COL2A1, COL5A3, HGF, LAMC1
 Reactome 9 / 30 13.3× 1.26e-8 1.06e-6 ✓ sig.
TGF-beta signaling pathway
FBN1, GDF7, SMAD3, SKI, TGFB2, TGFBR1, TGFBR2, THSD4, SMAD2, TGFB3, SMAD4, FST
 KEGG 15 / 108 6.2× 1.82e-8 1.48e-6 ✓ sig.
Interleukin-4 and Interleukin-13 signaling
CDKN1A, IL6, MMP1, IL13RA1, IL6R, MMP9, PTGS2, MMP2, COL1A2, FOXO1, HGF, IL1A
 Reactome 15 / 108 6.2× 1.82e-8 1.48e-6 ✓ sig.
Signaling by PDGF
COL3A1, COL5A1, COL5A2, COL2A1, THBS2, COL4A1, COL4A3, COL5A3, COL6A1
 Reactome 9 / 33 12.1× 3.19e-8 2.42e-6 ✓ sig.
Protein digestion and absorption
COL3A1, ELN, ACE2, COL1A1, COL5A1, COL5A2, COL1A2, COL2A1, COL12A1, COL4A1, COL4A3, COL5A3
 KEGG 14 / 103 6.0× 7.25e-8 4.94e-6 ✓ sig.

Enriched GO Terms (Biological Process, a second line of biological evidence)

GO term ⇵ GO ID ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
collagen fibril organization
COL3A1, TGFB2, TGFBR1, LOX, COL1A1, COL5A1, COL5A2, TNXB, COL1A2, COL2A1, PLOD1, ADAMTS2
 GO:0030199 18 / 65 19.1× 1.24e-18 1.63e-15 ✓ sig.
heart development
CDKN1A, FBN1, COL3A1, TGFB2, TGFBR1, TGFBR2, SOD2, LOX, PRKG1, MMP2, PKD1, SMAD2
 GO:0007507 27 / 273 6.8× 3.85e-15 2.73e-12 ✓ sig.
elastic fiber assembly
COL3A1, EFEMP2, MYH11, LOX, THSD4, TNXB, EMILIN1, ATP7A
 GO:0048251 8 / 11 50.1× 2.80e-13 1.44e-10 ✓ sig.
positive regulation of epithelial to mesenchymal transition
IL6, SMAD3, AGT, TGFB2, TGFBR1, TGFBR2, COL1A1, TNXB, SMAD2, TGFB3, NOTCH1, SMAD4
 GO:0010718 13 / 59 15.2× 2.10e-12 8.99e-10 ✓ sig.
blood vessel development
COL3A1, TGFB2, TGFBR2, LOX, COL1A1, COL5A1, COL1A2, PKD1, NPR2, ATP7A, HEY2, FOXO1
 GO:0001568 13 / 70 12.8× 2.14e-11 7.22e-9 ✓ sig.
extracellular matrix organization
ADAMTS8, MMP1, MMP13, COL3A1, ELN, MMP9, TGFB2, MMP14, MMP2, TNXB, EMILIN1, ADAMTS2
 GO:0030198 17 / 145 8.1× 3.75e-11 1.19e-8 ✓ sig.
transforming growth factor beta receptor signaling pathway
SMAD3, COL3A1, SKI, TGFB2, TGFBR1, TGFBR2, PARP1, COL1A2, LTBP3, SMAD2, TGFB3, MAP3K7
 GO:0007179 15 / 112 9.2× 8.01e-11 2.34e-8 ✓ sig.
regulation of cell population proliferation
AGT, TGFB2, TGFBR2, ACE2, AGTR1, PTGS2, ABL1, EMILIN1, TGFB3, NOTCH1, JAG1, SMAD4
 GO:0042127 19 / 201 6.5× 1.16e-10 3.28e-8 ✓ sig.
skin development
COL3A1, SLC2A10, COL1A1, COL5A1, COL5A2, PKD1, ADAMTS2, ATP7A, COL5A3, COL6A1, NGFR
 GO:0043588 11 / 55 13.8× 3.31e-10 8.37e-8 ✓ sig.
blood vessel remodeling
AGT, TGFB2, NPR3, BGN, CBS, NPR2, ATP7A, JAG1, ACE, BMPR2
 GO:0001974 10 / 42 16.4× 3.41e-10 8.57e-8 ✓ sig.
positive regulation of SMAD protein signal transduction
GDF7, SMAD3, TGFB2, TGFBR1, TGFBR2, PARP1, TGFB3, SMAD4, TGFBR3, BMPR2
 GO:0060391 10 / 42 16.4× 3.41e-10 8.57e-8 ✓ sig.
skeletal system development
FBN1, SMAD3, MMP9, TGFB2, TGFBR1, MMP14, NPR3, COL1A1, COL5A2, COL1A2, COL2A1, LTBP3
 GO:0001501 16 / 151 7.3× 6.55e-10 1.55e-7 ✓ sig.
aortic valve morphogenesis
ELN, TGFBR2, EMILIN1, SMAD2, NOTCH1, GATA5, HEY2, JAG1, SMAD6
 GO:0003180 9 / 37 16.8× 2.17e-9 4.43e-7 ✓ sig.
ventricular septum morphogenesis
TGFB2, TGFBR1, TGFBR2, NOTCH1, HEY2, SMAD4, TGFBR3, FZD2, BMPR2
 GO:0060412 9 / 41 15.1× 5.80e-9 1.07e-6 ✓ sig.
regulation of extracellular matrix organization
LRP1, TGFB2, SLC2A10, ABL1, PRDM5, ZNF469
 GO:1903053 6 / 12 34.5× 7.56e-9 1.34e-6 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Marfan syndrome Thoracic aortic aneurysm and aortic dissection 0.491 28 4.65e-67 3.41e-65 ✓ sig.
Aneurysm Aortic aneurysm 0.364 24 5.64e-57 3.46e-55 ✓ sig.
Aortic aneurysm Thoracic aortic aneurysm and aortic dissection 0.284 23 1.48e-46 7.60e-45 ✓ sig.
Congenital contractural arachnodactyly Thoracic aortic aneurysm and aortic dissection 0.340 18 1.88e-41 8.63e-40 ✓ sig.
Congenital contractural arachnodactyly Marfan syndrome 0.327 18 5.65e-41 2.57e-39 ✓ sig.
Aortic aneurysm Marfan syndrome 0.233 20 3.65e-38 1.54e-36 ✓ sig.
Loeys-dietz syndrome Marfan syndrome 0.304 14 1.95e-35 7.53e-34 ✓ sig.
Ehlers-danlos syndrome Thoracic aortic aneurysm and aortic dissection 0.246 17 2.33e-34 8.70e-33 ✓ sig.
familial thoracic aortic aneurysm and aortic dissection Thoracic aortic aneurysm and aortic dissection 0.286 12 2.14e-32 7.49e-31 ✓ sig.
Loeys-dietz syndrome Thoracic aortic aneurysm and aortic dissection 0.289 13 2.25e-32 7.86e-31 ✓ sig.
Ehlers-danlos syndrome Marfan syndrome 0.205 15 6.73e-29 2.09e-27 ✓ sig.
familial thoracic aortic aneurysm and aortic dissection Marfan syndrome 0.244 11 2.39e-28 7.28e-27 ✓ sig.
Congenital aneurysm of ascending aorta Thoracic aortic aneurysm and aortic dissection 0.227 10 3.58e-25 9.32e-24 ✓ sig.
Congenital contractural arachnodactyly Loeys-dietz syndrome 0.278 10 7.74e-25 1.98e-23 ✓ sig.
Aortic aneurysm Congenital contractural arachnodactyly 0.165 13 1.23e-24 3.10e-23 ✓ sig.
Congenital contractural arachnodactyly Ehlers-danlos syndrome 0.194 12 2.87e-24 7.09e-23 ✓ sig.
Aortic aneurysm Congenital aneurysm of ascending aorta 0.154 10 3.43e-23 8.01e-22 ✓ sig.
Ehlers-danlos syndrome Loeys-dietz syndrome 0.196 10 9.54e-23 2.16e-21 ✓ sig.
Congenital aneurysm of ascending aorta Loeys-dietz syndrome 0.261 6 3.99e-16 6.50e-15 ✓ sig.
Congenital contractural arachnodactyly familial thoracic aortic aneurysm and aortic dissection 0.167 6 2.36e-14 3.39e-13 ✓ sig.
Congenital aneurysm of ascending aorta familial thoracic aortic aneurysm and aortic dissection 0.250 5 8.68e-14 1.19e-12 ✓ sig.
familial thoracic aortic aneurysm and aortic dissection Loeys-dietz syndrome 0.208 5 4.78e-13 6.29e-12 ✓ sig.
Ehlers-danlos syndrome Keratoconus 0.054 8 8.07e-10 7.79e-9 ✓ sig.
Marfan syndrome Mitral valve prolapse 0.058 5 1.88e-7 1.32e-6 ✓ sig.
Ehlers-danlos syndrome Mitral valve prolapse 0.057 5 2.11e-7 1.48e-6 ✓ sig.
Keratoconus Thoracic aortic aneurysm and aortic dissection 0.041 6 4.48e-7 2.97e-6 ✓ sig.
Keratoconus Marfan syndrome 0.033 5 1.38e-5 7.05e-5 ✓ sig.
Loeys-dietz syndrome loeys-dietz syndrome 6 0.059 1 1.04e-3 1.72e-3 ✓ sig.
Aneurysm neonatal/infantile epilepsy syndrome 0.036 1 1.75e-3 2.59e-3 ✓ sig.
Boudin-mortier syndrome Congenital contractural arachnodactyly 0.033 1 1.88e-3 2.75e-3 ✓ sig.
Congenital contractural arachnodactyly loeys-dietz syndrome 6 0.033 1 1.88e-3 2.75e-3 ✓ sig.
Boudin-mortier syndrome Marfan syndrome 0.023 1 2.79e-3 3.74e-3 ✓ sig.
Ehlers-danlos syndrome ehlers-danlos syndrome, musculocontractural type 2 0.022 1 2.86e-3 3.80e-3 ✓ sig.
Aneurysm Vitreous body disease 0.034 1 3.50e-3 4.51e-3 ✓ sig.
Aortic aneurysm neonatal/infantile epilepsy syndrome 0.016 1 4.03e-3 5.08e-3 ✓ sig.
Aortic aneurysm Vitreous body disease 0.016 1 8.04e-3 9.34e-3 ✓ sig.