Bone fragility with contractures, arterial rupture, and deafness

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
C2676285MESH:C567320MONDO:0012892
PLOD3 Causal
15377789 16467571 18834968 30237576 30463024 31129566
CTD, ClinVar, Disgenet
All49 Causal1 Unknown48
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Osteoporosis-pseudoglioma syndrome 49 shared genesALPL, BMP1, CCDC134, GORAB, NBAS, SERPINF1, TENT5A, XYLT1, AMBN, SEC16B, COL1A1, SLC10A7 +37 more Related via 49 shared genes including ALPL, BMP1, CCDC134. Osteogenesis imperfecta 28 shared genesALPL, BMP1, CCDC134, SERPINF1, TENT5A, COL1A1, PLOD2, FKBP10, COL1A2, CRTAP, KDELR2, WNT1 +16 more Related via 28 shared genes including ALPL, BMP1, CCDC134. Larsen syndrome 9 shared genesGORAB, XYLT1, P4HA1, CHST3, XYLT2, B3GALT6, B3GAT3, B4GALT7, PLOD3 Related via 9 shared genes including GORAB, XYLT1, P4HA1. Desbuquois syndrome 38 shared genesALPL, BMP1, CCDC134, GORAB, NBAS, SERPINF1, TENT5A, XYLT1, COL1A1, SLC10A7, PLOD2, FKBP10 +26 more Related via 38 shared genes including ALPL, BMP1, CCDC134. Dentinogenesis imperfecta 4 shared genesAMBN, COL1A1, COL1A2, DSPP Related via 4 shared genes including AMBN, COL1A1, COL1A2.