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 66

13 diseases · 23 shared-gene connections
13 Diseases
714 Unique genes
0.133 Avg. similarity score
Bone fragility with contractures, arterial rupture, and deafness Most-connected disease (7 links)
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Disease Searched: Bone fragility with contractures, arterial rupture, and deafness 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 ⇵
Bone fragility with contractures, arterial rupture, and deafness 7 7 49
Osteoporosis-pseudoglioma syndrome 7 7 49
Larsen syndrome 5 5 17
Desbuquois syndrome 4 4 567
Osteogenesis imperfecta 4 4 39
Skeletal dysplasia 4 4 23
Cole-carpenter syndrome 3 3 3
Osteoporosis 3 3 146
ehlers-danlos syndrome, spondylodysplastic type, 1 3 3 1
immunoskeletal dysplasia with neurodevelopmental abnormalities 2 2 1
skeletal dysplasia, mild, with joint laxity and advanced bone age 2 2 1
Craniotubular dysplasia 1 1 1
neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
COL1A1 6 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteogenesis imperfecta, Osteoporosis and 2 more
COL1A2 6 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteogenesis imperfecta, Osteoporosis and 2 more
P4HB 6 / 13 Bone fragility with contractures, arterial rupture, and deafness, Cole-carpenter syndrome, Desbuquois syndrome, Osteogenesis imperfecta and 2 more
B4GALT7 5 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, ehlers-danlos syndrome, spondylodysplastic type, 1, Larsen syndrome and 1 more
CHST3 5 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Larsen syndrome, Osteoporosis-pseudoglioma syndrome and 1 more
CRTAP 5 / 13 Bone fragility with contractures, arterial rupture, and deafness, Cole-carpenter syndrome, Desbuquois syndrome, Osteogenesis imperfecta and 1 more
GORAB 5 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Larsen syndrome, Osteoporosis and 1 more
IFITM5 5 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteogenesis imperfecta, Osteoporosis and 1 more
LRP5 5 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteogenesis imperfecta, Osteoporosis and 1 more
PLS3 5 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteogenesis imperfecta, Osteoporosis and 1 more
SEC24D 5 / 13 Bone fragility with contractures, arterial rupture, and deafness, Cole-carpenter syndrome, Desbuquois syndrome, Osteogenesis imperfecta and 1 more
SERPINF1 5 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteogenesis imperfecta, Osteoporosis and 1 more
SP7 5 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteogenesis imperfecta, Osteoporosis and 1 more
WNT1 5 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteogenesis imperfecta, Osteoporosis and 1 more
XYLT2 5 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Larsen syndrome, Osteogenesis imperfecta and 1 more
ALPL 4 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome
B3GALT6 4 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Larsen syndrome, Osteoporosis-pseudoglioma syndrome
B3GAT3 4 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Larsen syndrome, Osteoporosis-pseudoglioma syndrome
BMP1 4 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome
CCDC134 4 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome
CREB3L1 4 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome
CSGALNACT1 4 / 13 Desbuquois syndrome, Larsen syndrome, Skeletal dysplasia, skeletal dysplasia, mild, with joint laxity and advanced bone age
FKBP10 4 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome
KDELR2 4 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome
MBTPS2 4 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome
MESD 4 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome
P3H1 4 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome
PLOD2 4 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome
PPIB 4 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome
SERPINH1 4 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome
SPARC 4 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome
TENT5A 4 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome
TMEM38B 4 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome
XYLT1 4 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Larsen syndrome, Osteoporosis-pseudoglioma syndrome
COPB2 3 / 13 Bone fragility with contractures, arterial rupture, and deafness, Osteoporosis, Osteoporosis-pseudoglioma syndrome
EXTL3 3 / 13 Desbuquois syndrome, immunoskeletal dysplasia with neurodevelopmental abnormalities, Skeletal dysplasia
FGFR3 3 / 13 Desbuquois syndrome, Larsen syndrome, Skeletal dysplasia
LIFR 3 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteoporosis-pseudoglioma syndrome
NBAS 3 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteoporosis-pseudoglioma syndrome
P4HA1 3 / 13 Bone fragility with contractures, arterial rupture, and deafness, Larsen syndrome, Osteoporosis-pseudoglioma syndrome
PHLDB1 3 / 13 Bone fragility with contractures, arterial rupture, and deafness, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome
PLOD3 3 / 13 Bone fragility with contractures, arterial rupture, and deafness, Larsen syndrome, Osteoporosis-pseudoglioma syndrome
SGMS2 3 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteoporosis-pseudoglioma syndrome
SLC10A7 3 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteoporosis-pseudoglioma syndrome
TAPT1 3 / 13 Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Osteoporosis-pseudoglioma syndrome
AMBN 2 / 13 Bone fragility with contractures, arterial rupture, and deafness, Osteoporosis-pseudoglioma syndrome
ANKH 2 / 13 Desbuquois syndrome, Skeletal dysplasia
ANO5 2 / 13 Desbuquois syndrome, Osteogenesis imperfecta
ANTXR2 2 / 13 Desbuquois syndrome, Osteoporosis
BMP2 2 / 13 Desbuquois syndrome, Osteoporosis
CA2 2 / 13 Desbuquois syndrome, Osteoporosis
CANT1 2 / 13 Desbuquois syndrome, Larsen syndrome
COL11A1 2 / 13 Desbuquois syndrome, Osteogenesis imperfecta
CTSK 2 / 13 Desbuquois syndrome, Skeletal dysplasia
DSPP 2 / 13 Bone fragility with contractures, arterial rupture, and deafness, Osteoporosis-pseudoglioma syndrome
DYNC2H1 2 / 13 Desbuquois syndrome, Skeletal dysplasia
EMILIN1 2 / 13 Bone fragility with contractures, arterial rupture, and deafness, Osteoporosis-pseudoglioma syndrome
FLNB 2 / 13 Desbuquois syndrome, Larsen syndrome
GALNS 2 / 13 Desbuquois syndrome, Skeletal dysplasia
GALNT3 2 / 13 Desbuquois syndrome, Osteoporosis
GPC6 2 / 13 Desbuquois syndrome, Osteoporosis
GZF1 2 / 13 Desbuquois syndrome, Larsen syndrome
IDH2 2 / 13 Desbuquois syndrome, Osteoporosis
IGF1R 2 / 13 Desbuquois syndrome, Osteoporosis
IL1RN 2 / 13 Desbuquois syndrome, Osteoporosis
KIF22 2 / 13 Desbuquois syndrome, Larsen syndrome
KIF5B 2 / 13 Bone fragility with contractures, arterial rupture, and deafness, Osteoporosis-pseudoglioma syndrome
KL 2 / 13 Desbuquois syndrome, Osteoporosis
MECOM 2 / 13 Desbuquois syndrome, Osteoporosis
MIA3 2 / 13 Bone fragility with contractures, arterial rupture, and deafness, Osteoporosis-pseudoglioma syndrome
OFD1 2 / 13 Desbuquois syndrome, Osteoporosis
PGGHG 2 / 13 Osteogenesis imperfecta, Osteoporosis
PIEZO2 2 / 13 Larsen syndrome, Osteoporosis
PPP1R21 2 / 13 Desbuquois syndrome, neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
SEC16B 2 / 13 Bone fragility with contractures, arterial rupture, and deafness, Osteoporosis-pseudoglioma syndrome
SEMA3A 2 / 13 Desbuquois syndrome, Skeletal dysplasia
SFRP4 2 / 13 Desbuquois syndrome, Osteoporosis
SKI 2 / 13 Desbuquois syndrome, Larsen syndrome
SLC26A2 2 / 13 Desbuquois syndrome, Skeletal dysplasia
TGFB1 2 / 13 Desbuquois syndrome, Osteoporosis
TMEM53 2 / 13 Craniotubular dysplasia, Skeletal dysplasia
TNFRSF11A 2 / 13 Desbuquois syndrome, Osteoporosis
TNFRSF11B 2 / 13 Desbuquois syndrome, Osteoporosis
TNFSF11 2 / 13 Desbuquois syndrome, Osteoporosis
TP63 2 / 13 Desbuquois syndrome, Skeletal dysplasia
TRPV4 2 / 13 Desbuquois syndrome, Skeletal dysplasia
WNT11 2 / 13 Bone fragility with contractures, arterial rupture, and deafness, Osteoporosis-pseudoglioma syndrome
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 ⇵
Proteoglycans in cancer
COL1A1, COL1A2, WNT1, WNT11, ACTB, BRAF, CBL, CDC42, FGFR1, FLNA, FN1, FZD2
 KEGG 55 / 204 4.5× 3.35e-22 3.44e-19 ✓ sig.
Pathways in cancer
LRP5, WNT1, WNT11, APC2, BMP2, BRAF, CBL, CDC42, CREBBP, CSF1R, DLL3, DLL4
 KEGG 91 / 533 2.9× 1.21e-20 9.62e-18 ✓ sig.
Signaling pathways regulating pluripotency of stem cells
LIFR, WNT1, WNT11, ACVR1, APC2, BMPR1B, DLX5, DVL1, DVL3, FGFR1, FGFR2, FGFR3
 KEGG 41 / 144 4.8× 9.00e-18 4.71e-15 ✓ sig.
Breast cancer
LRP5, WNT1, WNT11, APC2, BRAF, DLL3, DLL4, DVL1, DVL3, FGF10, FGF23, FGF8
 KEGG 41 / 148 4.7× 2.67e-17 1.28e-14 ✓ sig.
Hepatocellular carcinoma
LRP5, WNT1, WNT11, ACTB, APC2, ARID1B, BRAF, DVL1, DVL3, FZD2, HRAS, IGF1R
 KEGG 44 / 170 4.4× 3.02e-17 1.42e-14 ✓ sig.
Parathyroid hormone synthesis, secretion and action
CREB3L1, LRP5, BRAF, CASR, CYP27B1, FGF23, FGFR1, GCM2, GNAI3, GNAS, KL, MAFB
 KEGG 36 / 115 5.3× 3.16e-17 1.47e-14 ✓ sig.
Gastric cancer
LRP5, WNT1, WNT11, APC2, BRAF, DVL1, DVL3, FGF10, FGF23, FGF8, FGF9, FGFR2
 KEGG 41 / 150 4.6× 4.52e-17 2.02e-14 ✓ sig.
Hedgehog 'off' state
DYNC2H1, FUZ, GLI2, GLI3, GNAS, GPR161, IFT122, IFT140, IFT172, IFT52, INTU, KIF7
 Reactome 24 / 56 7.2× 1.86e-15 5.99e-13 ✓ sig.
Melanogenesis
CREB3L1, WNT1, WNT11, CREBBP, DVL1, DVL3, EDN1, EP300, FZD2, GNAI3, GNAS, HRAS
 KEGG 31 / 101 5.2× 9.57e-15 2.73e-12 ✓ sig.
Signaling by high-kinase activity BRAF mutants
ACTB, BRAF, FN1, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1, NRAS, RAF1, ACTG1, FGA
 Reactome 17 / 36 7.9× 3.56e-12 6.46e-10 ✓ sig.
Chronic myeloid leukemia
BRAF, CBL, HRAS, IKBKB, IKBKG, KRAS, MAP2K1, MAP2K2, MAPK1, MECOM, NRAS, PIK3R1
 KEGG 24 / 77 5.2× 7.09e-12 1.23e-9 ✓ sig.
Endocrine resistance
BRAF, DLL3, DLL4, GNAS, HRAS, IGF1, IGF1R, KRAS, MAP2K1, MAP2K2, MAPK1, MMP2
 KEGG 27 / 99 4.6× 1.17e-11 1.93e-9 ✓ sig.
Collagen biosynthesis and modifying enzymes
BMP1, COL1A1, COL1A2, CRTAP, P3H1, P4HA1, P4HB, PLOD2, PLOD3, PPIB, SERPINH1, COL10A1
 Reactome 22 / 67 5.5× 1.67e-11 2.67e-9 ✓ sig.
AGE-RAGE signaling pathway in diabetic complications
COL1A1, COL1A2, CDC42, EDN1, FN1, HRAS, KRAS, MAPK1, MMP2, NRAS, PIK3R1, PLCB3
 KEGG 27 / 101 4.5× 1.95e-11 3.04e-9 ✓ sig.
MAP2K and MAPK activation
ACTB, BRAF, FN1, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1, NRAS, RAF1, ACTG1, FGA
 Reactome 17 / 40 7.1× 2.93e-11 4.46e-9 ✓ 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
ALPL, BMP1, COL1A1, COL1A2, IFITM5, ACAN, ALX4, ANKH, ARSL, BMP2, BPNT2, CDKN1C
 GO:0001501 72 / 151 12.5× 2.36e-61 9.25e-57 ✓ sig.
ossification
BMP1, COL1A1, MESD, TAPT1, TMEM38B, BMP2, CASR, COL2A1, COMP, DDR2, DLX5, DMP1
 GO:0001503 43 / 110 10.2× 2.03e-32 1.41e-28 ✓ sig.
embryonic limb morphogenesis
ALX1, CHST11, CYP26B1, DLX5, DLX6, DYNC2H1, FBN2, FBXW4, FGF9, FGFR1, GDF5, GLI3
 GO:0030326 33 / 59 14.6× 1.22e-31 7.57e-28 ✓ sig.
embryonic digit morphogenesis
LRP5, ALX4, BPNT2, CHST11, CREBBP, GLI3, HOXA11, HOXD13, IFT140, IFT52, IHH, INTU
 GO:0042733 31 / 57 14.2× 2.82e-29 1.44e-25 ✓ sig.
cartilage development
BMP1, TAPT1, BMP2, BMPR1B, CHST11, CHSY1, COL11A1, COL11A2, COL2A1, COMP, CSGALNACT1, DDRGK1
 GO:0051216 35 / 89 10.3× 1.04e-26 4.36e-23 ✓ sig.
bone development
LRP5, P3H1, PLS3, PPIB, SLC10A7, TMEM38B, WNT1, AMER1, BGN, BMP2, BMPR1B, COL2A1
 GO:0060348 32 / 76 11.0× 1.19e-25 4.46e-22 ✓ sig.
bone mineralization
ALPL, COL1A2, IFITM5, TMEM38B, WNT11, ANKH, BMP2, COMP, CYP27B1, EIF2AK3, ENPP1, FGFR2
 GO:0030282 28 / 56 13.1× 3.31e-25 1.16e-21 ✓ sig.
positive regulation of gene expression
EMILIN1, SEC16B, BMP2, BMPR1B, BRAF, CASR, CDH3, CYP26B1, DDRGK1, DLL4, DLX5, EIF2AK3
 GO:0010628 75 / 504 3.9× 1.81e-24 5.66e-21 ✓ sig.
embryonic hindlimb morphogenesis
AFF3, ALX3, ALX4, FGF8, GPC3, MSX2, NOTCH1, PITX1, PITX2, RPGRIP1L, RSPO2, SHH
 GO:0035116 20 / 29 18.0× 2.46e-22 5.59e-19 ✓ sig.
positive regulation of transcription by RNA polymerase II
CREB3L1, LRP5, MBTPS2, SP7, WNT1, ACVR1, ALX1, ALX4, BMP2, BMPR1B, CDC73, CREBBP
 GO:0045944 115 / 1,208 2.5× 3.53e-20 5.84e-17 ✓ sig.
chondrocyte differentiation
BMP2, BMPR1B, COL2A1, EXT1, EXT2, FGF9, FGFR1, FGFR3, GDF5, GLI3, HMGA2, HOXA11
 GO:0002062 25 / 61 10.7× 5.70e-20 9.05e-17 ✓ sig.
osteoblast differentiation
ALPL, COL1A1, CREB3L1, SP7, WNT11, ACVR1, BMP2, BMPR1B, DLX5, FGF9, GLI2, GLI3
 GO:0001649 35 / 137 6.7× 1.34e-19 2.03e-16 ✓ sig.
bone morphogenesis
IFITM5, LRP5, ACP5, CHSY1, COMP, CYP26B1, DLX5, EXT1, FGFR2, FGFR3, IFT80, LTBP3
 GO:0060349 19 / 32 15.5× 1.98e-19 2.92e-16 ✓ sig.
cilium assembly
CC2D2A, CEP290, CFAP410, CILK1, CPLANE1, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, FLNA, FUZ
 GO:0060271 45 / 237 5.0× 2.89e-19 4.10e-16 ✓ sig.
collagen fibril organization
BMP1, COL1A1, COL1A2, CRTAP, FKBP10, P3H1, P4HA1, PLOD2, PLOD3, SERPINH1, ANTXR2, COL11A1
 GO:0030199 25 / 65 10.1× 3.65e-19 5.07e-16 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Bone fragility with contractures, arterial rupture, and deafness Osteoporosis-pseudoglioma syndrome 0.980 49 4.28e-143 7.49e-141 ✓ sig.
Bone fragility with contractures, arterial rupture, and deafness Osteogenesis imperfecta 0.459 28 1.14e-65 7.71e-64 ✓ sig.
Osteogenesis imperfecta Osteoporosis-pseudoglioma syndrome 0.459 28 1.14e-65 7.71e-64 ✓ sig.
Bone fragility with contractures, arterial rupture, and deafness Desbuquois syndrome 0.066 38 1.92e-45 9.16e-44 ✓ sig.
Desbuquois syndrome Osteoporosis-pseudoglioma syndrome 0.066 38 1.92e-45 9.16e-44 ✓ sig.
Bone fragility with contractures, arterial rupture, and deafness Larsen syndrome 0.155 9 3.66e-19 6.64e-18 ✓ sig.
Larsen syndrome Osteoporosis-pseudoglioma syndrome 0.155 9 3.66e-19 6.64e-18 ✓ sig.
Osteoporosis Osteoporosis-pseudoglioma syndrome 0.059 11 8.14e-13 9.90e-12 ✓ sig.
Bone fragility with contractures, arterial rupture, and deafness Osteoporosis 0.059 11 8.14e-13 9.90e-12 ✓ sig.
Osteogenesis imperfecta Osteoporosis 0.057 10 2.16e-12 2.49e-11 ✓ sig.
Cole-carpenter syndrome Osteogenesis imperfecta 0.075 3 1.50e-8 1.19e-7 ✓ sig.
Bone fragility with contractures, arterial rupture, and deafness Cole-carpenter syndrome 0.060 3 3.03e-8 2.30e-7 ✓ sig.
Cole-carpenter syndrome Osteoporosis-pseudoglioma syndrome 0.060 3 3.03e-8 2.30e-7 ✓ sig.
Larsen syndrome Skeletal dysplasia 0.079 3 1.95e-6 1.09e-5 ✓ sig.
ehlers-danlos syndrome, spondylodysplastic type, 1 Larsen syndrome 0.056 1 1.10e-3 1.83e-3 ✓ sig.
Larsen syndrome skeletal dysplasia, mild, with joint laxity and advanced bone age 0.056 1 1.10e-3 1.83e-3 ✓ sig.
Skeletal dysplasia skeletal dysplasia, mild, with joint laxity and advanced bone age 0.042 1 1.49e-3 2.31e-3 ✓ sig.
immunoskeletal dysplasia with neurodevelopmental abnormalities Skeletal dysplasia 0.042 1 1.49e-3 2.31e-3 ✓ sig.
Craniotubular dysplasia Skeletal dysplasia 0.042 1 1.49e-3 2.31e-3 ✓ sig.
ehlers-danlos syndrome, spondylodysplastic type, 1 Osteoporosis-pseudoglioma syndrome 0.020 1 3.18e-3 4.17e-3 ✓ sig.
Bone fragility with contractures, arterial rupture, and deafness ehlers-danlos syndrome, spondylodysplastic type, 1 0.020 1 3.18e-3 4.17e-3 ✓ sig.
Desbuquois syndrome neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities 0.002 1 3.68e-2 3.87e-2 ✓ sig.
Desbuquois syndrome immunoskeletal dysplasia with neurodevelopmental abnormalities 0.002 1 3.68e-2 3.87e-2 ✓ sig.