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.

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Cluster 7

34 diseases · 62 shared-gene connections
34 Diseases
542 Unique genes
0.129 Avg. similarity score
Marfan syndrome Most-connected disease (12 links)
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Disease Searched: Neonatal/infantile epilepsy syndrome 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 12 12 44
Myopia 11 11 135
Thoracic aortic aneurysm and aortic dissection 11 11 41
Congenital contractural arachnodactyly 9 9 29
Ehlers-danlos syndrome 9 9 44
Aortic aneurysm 7 7 62
Loeys-dietz syndrome 7 7 17
Connective tissue disease 5 5 117
Emphysema 5 5 41
Familial thoracic aortic aneurysm and aortic dissection 5 5 13
Thoracic aortic aneurysm 5 5 28
Congenital aneurysm of ascending aorta 4 4 12
Keratoconus 4 4 112
Aneurysm 3 3 27
Urethral obstruction 3 3 26
Ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 2 2 1
Mitral valve prolapse 2 2 47
Mixed connective tissue disease 2 2 24
Neonatal/infantile epilepsy syndrome 2 2 1
Nil-deshwar neurodevelopmental syndrome 2 2 1
Aminoaciduria 1 1 1
Bone marrow failure and diabetes mellitus syndrome 1 1 1
Cardiomyopathy, dilated, 2j 1 1 1
Cerebrocostomandibular syndrome 1 1 1
Ehlers-danlos syndrome, musculocontractural type 2 1 1 1
Myopia 21, autosomal dominant 1 1 1
Myopia 22, autosomal dominant 1 1 1
Myopia 23, autosomal recessive 1 1 1
Myopia 24, autosomal dominant 1 1 1
Myopia 26, x-linked, female-limited 1 1 1
Myopia 27, autosomal dominant 1 1 1
Neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism 1 1 2
Neurodevelopmental disorder with or without seizures and gait abnormalities 1 1 1
Schneckenbecken dysplasia 1 1 1

Top shared genes (genes linked to 2+ member diseases ‐ top 100 shown, download for all)

Gene ⇵ Member diseases ⇵ Linked diseases
FBN1 14 / 34 Aneurysm, Aortic aneurysm, Congenital aneurysm of ascending aorta, Congenital contractural arachnodactyly and 10 more
SMAD3 12 / 34 Aneurysm, Aortic aneurysm, Congenital aneurysm of ascending aorta, Congenital contractural arachnodactyly and 8 more
LOX 10 / 34 Aortic aneurysm, Congenital aneurysm of ascending aorta, Congenital contractural arachnodactyly, Connective tissue disease and 6 more
MYH11 10 / 34 Aortic aneurysm, Congenital aneurysm of ascending aorta, Connective tissue disease, Ehlers-danlos syndrome and 6 more
COL3A1 9 / 34 Aortic aneurysm, Congenital aneurysm of ascending aorta, Congenital contractural arachnodactyly, Connective tissue disease and 5 more
TGFB2 9 / 34 Aortic aneurysm, Congenital contractural arachnodactyly, Ehlers-danlos syndrome, Emphysema and 5 more
TGFBR2 9 / 34 Aortic aneurysm, Congenital aneurysm of ascending aorta, Congenital contractural arachnodactyly, Connective tissue disease and 5 more
FBN2 8 / 34 Aortic aneurysm, Congenital contractural arachnodactyly, Connective tissue disease, Ehlers-danlos syndrome and 4 more
FLNA 8 / 34 Aortic aneurysm, Connective tissue disease, Ehlers-danlos syndrome, Familial thoracic aortic aneurysm and aortic dissection and 4 more
MYLK 8 / 34 Aortic aneurysm, Congenital aneurysm of ascending aorta, Connective tissue disease, Familial thoracic aortic aneurysm and aortic dissection and 4 more
ACTA2 7 / 34 Aneurysm, Aortic aneurysm, Connective tissue disease, Marfan syndrome and 3 more
COL5A1 7 / 34 Connective tissue disease, Ehlers-danlos syndrome, Keratoconus, Loeys-dietz syndrome and 3 more
MFAP5 7 / 34 Aortic aneurysm, Congenital contractural arachnodactyly, Connective tissue disease, Familial thoracic aortic aneurysm and aortic dissection and 3 more
TGFBR1 7 / 34 Aortic aneurysm, Congenital contractural arachnodactyly, Ehlers-danlos syndrome, Emphysema and 3 more
COL5A2 6 / 34 Connective tissue disease, Ehlers-danlos syndrome, Keratoconus, Loeys-dietz syndrome and 2 more
PRKG1 6 / 34 Aortic aneurysm, Connective tissue disease, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome and 2 more
TGFB3 6 / 34 Congenital contractural arachnodactyly, Emphysema, Familial thoracic aortic aneurysm and aortic dissection, Loeys-dietz syndrome and 2 more
THSD4 6 / 34 Aortic aneurysm, Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome and 2 more
COL1A1 5 / 34 Connective tissue disease, Ehlers-danlos syndrome, Keratoconus, Marfan syndrome and 1 more
NDE1 5 / 34 Aortic aneurysm, Congenital aneurysm of ascending aorta, Connective tissue disease, Myopia and 1 more
PLOD1 5 / 34 Congenital contractural arachnodactyly, Ehlers-danlos syndrome, Keratoconus, Mitral valve prolapse and 1 more
SLC2A10 5 / 34 Aortic aneurysm, Congenital contractural arachnodactyly, Ehlers-danlos syndrome, Marfan syndrome and 1 more
BGN 4 / 34 Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Thoracic aortic aneurysm and aortic dissection
CBS 4 / 34 Congenital contractural arachnodactyly, Connective tissue disease, Marfan syndrome, Thoracic aortic aneurysm and aortic dissection
COL2A1 4 / 34 Congenital aneurysm of ascending aorta, Connective tissue disease, Marfan syndrome, Myopia
EFEMP2 4 / 34 Aortic aneurysm, Congenital contractural arachnodactyly, Thoracic aortic aneurysm, Thoracic aortic aneurysm and aortic dissection
FOXE3 4 / 34 Aortic aneurysm, Congenital aneurysm of ascending aorta, Familial thoracic aortic aneurysm and aortic dissection, Thoracic aortic aneurysm and aortic dissection
IPO8 4 / 34 Congenital contractural arachnodactyly, Loeys-dietz syndrome, Marfan syndrome, Thoracic aortic aneurysm
NOTCH1 4 / 34 Connective tissue disease, Ehlers-danlos syndrome, Marfan syndrome, Thoracic aortic aneurysm and aortic dissection
PMEPA1 4 / 34 Congenital contractural arachnodactyly, Loeys-dietz syndrome, Marfan syndrome, Thoracic aortic aneurysm
SLC39A13 4 / 34 Connective tissue disease, Ehlers-danlos syndrome, Mitral valve prolapse, Myopia
SMAD2 4 / 34 Congenital contractural arachnodactyly, Loeys-dietz syndrome, Marfan syndrome, Thoracic aortic aneurysm and aortic dissection
SRFBP1 4 / 34 Aortic aneurysm, Congenital aneurysm of ascending aorta, Connective tissue disease, Thoracic aortic aneurysm and aortic dissection
ZNF469 4 / 34 Connective tissue disease, Ehlers-danlos syndrome, Keratoconus, Myopia
AEBP1 3 / 34 Congenital contractural arachnodactyly, Ehlers-danlos syndrome, Myopia
AGT 3 / 34 Aortic aneurysm, Mitral valve prolapse, Urethral obstruction
APOE 3 / 34 Aneurysm, Aortic aneurysm, Emphysema
CSMD1 3 / 34 Aneurysm, Aortic aneurysm, Emphysema
DAB2IP 3 / 34 Aneurysm, Aortic aneurysm, Keratoconus
DOT1L 3 / 34 Aneurysm, Aortic aneurysm, Nil-deshwar neurodevelopmental syndrome
EFEMP1 3 / 34 Congenital contractural arachnodactyly, Connective tissue disease, Myopia
FKBP14 3 / 34 Congenital contractural arachnodactyly, Ehlers-danlos syndrome, Ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
HEY2 3 / 34 Marfan syndrome, Thoracic aortic aneurysm and aortic dissection, Urethral obstruction
KCNH5 3 / 34 Aneurysm, Aortic aneurysm, Neonatal/infantile epilepsy syndrome
LTBP3 3 / 34 Congenital contractural arachnodactyly, Marfan syndrome, Mitral valve prolapse
MAT2A 3 / 34 Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Thoracic aortic aneurysm and aortic dissection
MMP2 3 / 34 Aortic aneurysm, Marfan syndrome, Myopia
NOS2 3 / 34 Emphysema, Marfan syndrome, Urethral obstruction
SKI 3 / 34 Aortic aneurysm, Congenital contractural arachnodactyly, Thoracic aortic aneurysm and aortic dissection
ABCA3 2 / 34 Emphysema, Loeys-dietz syndrome
ABL1 2 / 34 Congenital contractural arachnodactyly, Connective tissue disease
ADAMTS8 2 / 34 Aneurysm, Aortic aneurysm
ARIH1 2 / 34 Aortic aneurysm, Marfan syndrome
ARR3 2 / 34 Myopia, Myopia 26, x-linked, female-limited
BASP1 2 / 34 Connective tissue disease, Mixed connective tissue disease
CAST 2 / 34 Aneurysm, Aortic aneurysm
CDH4 2 / 34 Connective tissue disease, Mixed connective tissue disease
CDKN1A 2 / 34 Aneurysm, Aortic aneurysm
CDYL 2 / 34 Connective tissue disease, Mixed connective tissue disease
CELSR2 2 / 34 Aneurysm, Aortic aneurysm
CLTRN 2 / 34 Aminoaciduria, Urethral obstruction
COL11A1 2 / 34 Connective tissue disease, Myopia
COL12A1 2 / 34 Ehlers-danlos syndrome, Keratoconus
COL1A2 2 / 34 Connective tissue disease, Ehlers-danlos syndrome
COL9A1 2 / 34 Connective tissue disease, Myopia
CPSF1 2 / 34 Myopia, Myopia 27, autosomal dominant
DSE 2 / 34 Ehlers-danlos syndrome, Ehlers-danlos syndrome, musculocontractural type 2
DUT 2 / 34 Bone marrow failure and diabetes mellitus syndrome, Myopia
EIF3A 2 / 34 Keratoconus, Neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism
ELN 2 / 34 Aortic aneurysm, Thoracic aortic aneurysm and aortic dissection
EML6 2 / 34 Keratoconus, Myopia
FLII 2 / 34 Cardiomyopathy, dilated, 2j, Myopia
GDF7 2 / 34 Aneurysm, Aortic aneurysm
GRIA4 2 / 34 Myopia, Neurodevelopmental disorder with or without seizures and gait abnormalities
HCN4 2 / 34 Marfan syndrome, Thoracic aortic aneurysm and aortic dissection
HDAC4 2 / 34 Connective tissue disease, Mixed connective tissue disease
HGF 2 / 34 Keratoconus, Myopia
HHEX 2 / 34 Connective tissue disease, Mixed connective tissue disease
HLA-B 2 / 34 Connective tissue disease, Mitral valve prolapse
JAG1 2 / 34 Marfan syndrome, Thoracic aortic aneurysm and aortic dissection
KCNMB2 2 / 34 Connective tissue disease, Mixed connective tissue disease
LPA 2 / 34 Aneurysm, Aortic aneurysm
LPAR3 2 / 34 Connective tissue disease, Mixed connective tissue disease
LRP1 2 / 34 Aneurysm, Aortic aneurysm
LRP11 2 / 34 Connective tissue disease, Mixed connective tissue disease
LRP1B 2 / 34 Keratoconus, Myopia
LRP6 2 / 34 Keratoconus, Myopia
LRPAP1 2 / 34 Myopia, Myopia 23, autosomal recessive
LTBP2 2 / 34 Marfan syndrome, Mitral valve prolapse
MED12 2 / 34 Ehlers-danlos syndrome, Thoracic aortic aneurysm and aortic dissection
MMP13 2 / 34 Aneurysm, Aortic aneurysm
MMP9 2 / 34 Aortic aneurysm, Marfan syndrome
MRC2 2 / 34 Aneurysm, Aortic aneurysm
MYRIP 2 / 34 Connective tissue disease, Mixed connective tissue disease
NCKAP5 2 / 34 Aneurysm, Aortic aneurysm
NPR3 2 / 34 Congenital contractural arachnodactyly, Marfan syndrome
NSDHL 2 / 34 Connective tissue disease, Mitral valve prolapse
PBLD 2 / 34 Connective tissue disease, Mixed connective tissue disease
PCLO 2 / 34 Connective tissue disease, Mixed connective tissue disease
PFKP 2 / 34 Connective tissue disease, Mixed connective tissue disease
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 biosynthesis and modifying enzymes
COL3A1, COL1A1, COL5A1, COL5A2, COL1A2, COL2A1, PLOD1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3
 Reactome 27 / 67 8.9× 1.88e-19 1.29e-16 ✓ sig.
Assembly of collagen fibrils and other multimeric structures
MMP13, COL3A1, MMP9, COL1A1, COL5A1, COL5A2, COL1A2, COL2A1, COL11A1, COL11A2, COL9A1, COL9A2
 Reactome 23 / 51 10.0× 4.31e-18 2.38e-15 ✓ sig.
Collagen chain trimerization
COL3A1, COL1A1, COL5A1, COL5A2, COL1A2, COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, COL12A1
 Reactome 21 / 44 10.6× 2.89e-17 1.37e-14 ✓ sig.
Collagen degradation
MMP1, MMP13, COL3A1, MMP9, MMP14, MMP2, COL1A1, COL5A1, COL5A2, COL1A2, COL2A1, COL11A1
 Reactome 22 / 52 9.4× 1.26e-16 5.13e-14 ✓ sig.
AGE-RAGE signaling pathway in diabetic complications
IL6, PLCE1, SMAD3, AGT, COL3A1, TGFB2, TGFBR1, TGFBR2, AGTR1, MMP2, COL1A1, COL1A2
 KEGG 29 / 101 6.4× 3.80e-16 1.45e-13 ✓ sig.
Non-integrin membrane-ECM interactions
COL3A1, COL1A1, COL5A1, COL5A2, COL1A2, COL2A1, COL11A1, COL11A2, DDR2, HSPG2, COL4A1, COL4A3
 Reactome 15 / 24 13.8× 4.87e-15 1.48e-12 ✓ sig.
ECM proteoglycans
COL3A1, COL1A1, COL5A1, COL5A2, TNXB, COL1A2, COL2A1, BGN, COL9A1, COL9A2, COL9A3, COMP
 Reactome 20 / 51 8.7× 1.83e-14 4.93e-12 ✓ sig.
Integrin cell surface interactions
FBN1, COL3A1, COL1A1, COL5A1, COL5A2, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, HSPG2
 Reactome 24 / 81 6.6× 6.40e-14 1.56e-11 ✓ sig.
Molecules associated with elastic fibres
FBN1, EFEMP2, ELN, TGFB2, FBN2, MFAP5, EFEMP1, EMILIN1, LTBP3, TGFB3, BMP7, FBLN2
 Reactome 17 / 38 9.9× 1.24e-13 2.85e-11 ✓ sig.
Pathways in cancer
CDKN1A, IL6, MMP1, SMAD3, AGT, IL13RA1, IL6R, MMP9, TGFB2, TGFBR1, TGFBR2, AGTR1
 KEGG 63 / 533 2.6× 1.39e-12 2.56e-10 ✓ sig.
Extracellular matrix organization
COL3A1, COL1A1, COL5A1, COL5A2, COL1A2, COL2A1, COL4A1, COL4A3, COL5A3, COL4A4, FN1
 Reactome 11 / 15 16.2× 1.66e-12 3.00e-10 ✓ sig.
MET activates PTK2 signaling
COL3A1, COL1A1, COL5A1, COL5A2, COL1A2, COL2A1, COL11A1, COL11A2, COL5A3, HGF, LAMC1, LAMA2
 Reactome 14 / 30 10.3× 9.20e-12 1.41e-9 ✓ sig.
NCAM1 interactions
COL3A1, COL5A1, COL5A2, COL2A1, COL9A1, COL9A2, COL9A3, COL4A1, COL4A3, COL5A3, COL6A1, COL4A4
 Reactome 12 / 21 12.7× 1.28e-11 1.90e-9 ✓ sig.
Protein digestion and absorption
COL3A1, ELN, ACE2, COL1A1, COL5A1, COL5A2, COL1A2, COL2A1, COL11A1, COL11A2, COL9A1, COL9A2
 KEGG 24 / 103 5.2× 1.95e-11 2.77e-9 ✓ sig.
Human papillomavirus infection
CDKN1A, PTGS2, COL1A1, TNXB, COL1A2, COL2A1, HLA-B, COL9A1, COL9A2, COL9A3, COMP, NOTCH1
 KEGG 44 / 333 2.9× 1.16e-10 1.33e-8 ✓ 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 ⇵
skeletal system development
FBN1, SMAD3, MMP9, TGFB2, TGFBR1, MMP14, COL1A1, COL5A2, COL1A2, COL2A1, LTBP3, NPR3
 GO:0001501 39 / 151 8.9× 3.00e-26 1.12e-22 ✓ sig.
collagen fibril organization
COL3A1, TGFB2, TGFBR1, LOX, COL1A1, COL5A1, COL5A2, TNXB, COL1A2, COL2A1, PLOD1, COL11A1
 GO:0030199 24 / 65 12.7× 9.98e-21 1.79e-17 ✓ sig.
heart development
CDKN1A, FBN1, COL3A1, TGFB2, TGFBR1, TGFBR2, SOD2, LOX, PRKG1, MMP2, PKD1, SMAD2
 GO:0007507 39 / 273 4.9× 1.54e-16 1.45e-13 ✓ sig.
positive regulation of epithelial to mesenchymal transition
IL6, SMAD3, AGT, TGFB2, TGFBR1, TGFBR2, COL1A1, TNXB, SMAD2, TGFB3, BMP7, NOTCH1
 GO:0010718 19 / 59 11.1× 2.13e-15 1.65e-12 ✓ sig.
blood vessel remodeling
AGT, TGFB2, BGN, CBS, NPR2, NPR3, ATP7A, JAG1, ACE, BMPR2, CHD7, IGF1
 GO:0001974 16 / 42 13.1× 1.67e-14 1.10e-11 ✓ sig.
aortic valve morphogenesis
ELN, TGFBR2, EMILIN1, SMAD2, NOTCH1, SOX9, SNAI1, GATA5, HEY2, JAG1, SMAD6, HEY1
 GO:0003180 15 / 37 14.0× 3.71e-14 2.31e-11 ✓ sig.
elastic fiber assembly
COL3A1, EFEMP2, MYH11, LOX, THSD4, TNXB, EMILIN1, ATP7A, FBLN5
 GO:0048251 9 / 11 28.2× 7.11e-13 3.45e-10 ✓ sig.
lung development
FBN1, COL3A1, TGFBR2, MMP14, LOX, SMAD2, NOTCH1, ADAMTS2, ABCA3, CEBPA, GLI3, COL6A1
 GO:0030324 21 / 108 6.7× 4.13e-12 1.72e-9 ✓ sig.
cartilage development
COL3A1, TGFBR2, COL2A1, PKD1, NPR2, BMP7, COL11A1, COL11A2, COMP, FGFR3, IFT80, MATN3
 GO:0051216 19 / 89 7.4× 7.71e-12 3.00e-9 ✓ sig.
extracellular matrix organization
ADAMTS8, MMP1, MMP13, COL3A1, ELN, MMP9, TGFB2, MMP14, MMP2, TNXB, EMILIN1, MATN3
 GO:0030198 23 / 145 5.5× 3.20e-11 1.09e-8 ✓ sig.
regulation of cell population proliferation
AGT, TGFB2, TGFBR2, ACE2, AGTR1, PTGS2, ABL1, EMILIN1, TGFB3, NOTCH1, SOX9, CEBPA
 GO:0042127 27 / 201 4.6× 3.34e-11 1.13e-8 ✓ sig.
positive regulation of SMAD protein signal transduction
GDF7, SMAD3, TGFB2, TGFBR1, TGFBR2, PARP1, TGFB3, BMP7, TGFBR3, SMAD4, BMPR2, BMP2
 GO:0060391 13 / 42 10.7× 1.05e-10 3.22e-8 ✓ sig.
positive regulation of gene expression
GDF7, IL6, ZPR1, ACTA2, SMAD3, TGFB2, TGFBR1, SLC2A10, EMILIN1, SMAD2, BMP7, RIMS1
 GO:0010628 43 / 504 2.9× 2.73e-10 7.51e-8 ✓ sig.
response to hypoxia
SMAD3, TGFB2, MMP14, SOD2, MMP2, PLOD1, TGFB3, HSPG2, TGFBR3, TRPV4, MAP3K7, NOS2
 GO:0001666 24 / 176 4.7× 3.05e-10 8.29e-8 ✓ sig.
transforming growth factor beta receptor signaling pathway
SMAD3, COL3A1, SKI, TGFB2, TGFBR1, TGFBR2, PARP1, COL1A2, LTBP3, SMAD2, TGFB3, TGFBR3
 GO:0007179 19 / 112 5.8× 5.14e-10 1.32e-7 ✓ 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 0.509 29 5.04e-70 1.65e-68 ✓ sig.
Aneurysm Aortic aneurysm 0.364 24 4.90e-57 1.42e-55 ✓ sig.
Aortic aneurysm Thoracic aortic aneurysm and aortic dissection 0.284 23 1.29e-46 3.33e-45 ✓ sig.
Connective tissue disease Mixed connective tissue disease 0.183 22 7.03e-46 1.79e-44 ✓ sig.
Congenital contractural arachnodactyly Marfan syndrome 0.345 19 8.39e-44 2.08e-42 ✓ sig.
Congenital contractural arachnodactyly Thoracic aortic aneurysm and aortic dissection 0.340 18 1.69e-41 4.07e-40 ✓ sig.
Loeys-dietz syndrome Marfan syndrome 0.319 15 5.80e-38 1.32e-36 ✓ sig.
Aortic aneurysm Marfan syndrome 0.230 20 5.95e-38 1.35e-36 ✓ sig.
Familial thoracic aortic aneurysm and aortic dissection Thoracic aortic aneurysm and aortic dissection 0.310 13 3.74e-35 8.12e-34 ✓ sig.
Ehlers-danlos syndrome Thoracic aortic aneurysm and aortic dissection 0.246 17 2.11e-34 4.54e-33 ✓ sig.
Connective tissue disease Thoracic aortic aneurysm and aortic dissection 0.144 20 1.57e-32 3.26e-31 ✓ sig.
Loeys-dietz syndrome Thoracic aortic aneurysm and aortic dissection 0.283 13 8.83e-32 1.80e-30 ✓ sig.
Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome 0.261 12 6.91e-31 1.38e-29 ✓ sig.
Ehlers-danlos syndrome Marfan syndrome 0.203 15 9.34e-29 1.78e-27 ✓ sig.
Congenital contractural arachnodactyly Loeys-dietz syndrome 0.306 11 1.39e-27 2.57e-26 ✓ sig.
Connective tissue disease Marfan syndrome 0.125 18 1.44e-27 2.66e-26 ✓ sig.
Congenital aneurysm of ascending aorta Thoracic aortic aneurysm and aortic dissection 0.227 10 3.38e-25 5.82e-24 ✓ sig.
Aortic aneurysm Congenital contractural arachnodactyly 0.165 13 1.14e-24 1.94e-23 ✓ sig.
Congenital contractural arachnodactyly Ehlers-danlos syndrome 0.194 12 2.68e-24 4.47e-23 ✓ sig.
Aortic aneurysm Congenital aneurysm of ascending aorta 0.154 10 3.23e-23 5.23e-22 ✓ sig.
Ehlers-danlos syndrome Loeys-dietz syndrome 0.192 10 2.18e-22 3.44e-21 ✓ sig.
Marfan syndrome Thoracic aortic aneurysm 0.159 10 1.44e-19 2.07e-18 ✓ sig.
Thoracic aortic aneurysm Thoracic aortic aneurysm and aortic dissection 0.148 9 1.66e-17 2.22e-16 ✓ sig.
Familial thoracic aortic aneurysm and aortic dissection Thoracic aortic aneurysm 0.200 7 4.76e-17 6.27e-16 ✓ sig.
Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection 0.194 7 6.28e-17 8.21e-16 ✓ sig.
Congenital aneurysm of ascending aorta Loeys-dietz syndrome 0.250 6 5.95e-16 7.48e-15 ✓ sig.
Congenital contractural arachnodactyly Thoracic aortic aneurysm 0.137 7 4.25e-14 4.91e-13 ✓ sig.
Congenital aneurysm of ascending aorta Familial thoracic aortic aneurysm and aortic dissection 0.238 5 1.37e-13 1.54e-12 ✓ sig.
Loeys-dietz syndrome Thoracic aortic aneurysm 0.150 6 2.40e-13 2.68e-12 ✓ sig.
Emphysema Loeys-dietz syndrome 0.115 6 2.43e-12 2.54e-11 ✓ sig.
Marfan syndrome Urethral obstruction 0.092 6 8.14e-11 7.67e-10 ✓ sig.
Connective tissue disease Myopia 0.050 12 4.13e-10 3.68e-9 ✓ sig.
Ehlers-danlos syndrome Keratoconus 0.054 8 8.29e-10 7.21e-9 ✓ sig.
Emphysema Marfan syndrome 0.076 6 1.32e-9 1.13e-8 ✓ sig.
Congenital contractural arachnodactyly Emphysema 0.077 5 1.01e-8 7.92e-8 ✓ sig.
Emphysema Thoracic aortic aneurysm and aortic dissection 0.065 5 6.21e-8 4.47e-7 ✓ sig.
Ehlers-danlos syndrome Myopia 0.040 7 9.58e-8 6.70e-7 ✓ sig.
Ehlers-danlos syndrome Mitral valve prolapse 0.057 5 2.05e-7 1.38e-6 ✓ sig.
Marfan syndrome Mitral valve prolapse 0.057 5 2.05e-7 1.38e-6 ✓ sig.
Keratoconus Thoracic aortic aneurysm and aortic dissection 0.041 6 4.57e-7 2.93e-6 ✓ sig.
Emphysema Urethral obstruction 0.063 4 5.47e-7 3.46e-6 ✓ sig.
Keratoconus Marfan syndrome 0.033 5 1.57e-5 8.31e-5 ✓ sig.
Cerebrocostomandibular syndrome Mixed connective tissue disease 0.040 1 1.55e-3 2.19e-3 ✓ sig.
Aminoaciduria Urethral obstruction 0.037 1 1.68e-3 2.34e-3 ✓ sig.
Aneurysm Neonatal/infantile epilepsy syndrome 0.036 1 1.74e-3 2.42e-3 ✓ sig.
Aneurysm Nil-deshwar neurodevelopmental syndrome 0.036 1 1.74e-3 2.42e-3 ✓ sig.
Congenital contractural arachnodactyly Ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 0.033 1 1.87e-3 2.57e-3 ✓ sig.
Ehlers-danlos syndrome Ehlers-danlos syndrome, musculocontractural type 2 0.022 1 2.84e-3 3.63e-3 ✓ sig.
Ehlers-danlos syndrome Ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 0.022 1 2.84e-3 3.63e-3 ✓ sig.
Aortic aneurysm Neonatal/infantile epilepsy syndrome 0.016 1 4.00e-3 4.91e-3 ✓ sig.
Aortic aneurysm Nil-deshwar neurodevelopmental syndrome 0.016 1 4.00e-3 4.91e-3 ✓ sig.
Connective tissue disease Schneckenbecken dysplasia 0.008 1 7.55e-3 8.71e-3 ✓ sig.
Myopia Myopia 21, autosomal dominant 0.007 1 8.72e-3 9.86e-3 ✓ sig.
Cardiomyopathy, dilated, 2j Myopia 0.007 1 8.72e-3 9.86e-3 ✓ sig.
Bone marrow failure and diabetes mellitus syndrome Myopia 0.007 1 8.72e-3 9.86e-3 ✓ sig.
Myopia Neurodevelopmental disorder with or without seizures and gait abnormalities 0.007 1 8.72e-3 9.86e-3 ✓ sig.
Myopia Myopia 27, autosomal dominant 0.007 1 8.72e-3 9.86e-3 ✓ sig.
Myopia Myopia 26, x-linked, female-limited 0.007 1 8.72e-3 9.86e-3 ✓ sig.
Myopia Myopia 24, autosomal dominant 0.007 1 8.72e-3 9.86e-3 ✓ sig.
Myopia Myopia 23, autosomal recessive 0.007 1 8.72e-3 9.86e-3 ✓ sig.
Myopia Myopia 22, autosomal dominant 0.007 1 8.72e-3 9.86e-3 ✓ sig.
Keratoconus Neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism 0.009 1 1.44e-2 1.58e-2 ✓ sig.