Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C1850087
Disease: Narrow sacroiliac notch
Narrow sacroiliac notch 		7 0 4 0.17 0 0
CUI: C3552526
Disease: Metaphyseal sclerosis
Metaphyseal sclerosis 		7 0 4 0.17 0 0
CUI: C1850083
Disease: Irregular ossification at anterior rib ends
Irregular ossification at anterior rib ends 		3 0 3 0.15 0 0
CUI: C1855171
Disease: Metaphyseal cupping of metacarpals
Metaphyseal cupping of metacarpals 		3 0 3 0.15 0 0
CUI: C1859148
Disease: Chondrodysplasia, blomstrand type
Chondrodysplasia, blomstrand type 		3 0 3 0.15 0 0
CUI: C1837082
Disease: Metaphyseal cupping
Metaphyseal cupping 		13 0 4 0.14 0 0
CUI: C0265295
Disease: Jansen type metaphyseal chondrodysplasia
Jansen type metaphyseal chondrodysplasia 		5 4 3 0.14 1 0.17
CUI: C1836320
Disease: Proximal femoral metaphyseal irregularity
Proximal femoral metaphyseal irregularity 		7 0 3 0.12 0 0
CUI: C1857180
Disease: Enlargement of the costochondral junction
Enlargement of the costochondral junction 		8 0 3 0.12 0 0
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		57 0 8 0.12 0 0
CUI: C0239941
Disease: Persistence of hemoglobin F
Persistence of hemoglobin F 		9 0 3 0.12 0 0
CUI: C1846154
Disease: Anterior rib cupping
Anterior rib cupping 		10 0 3 0.11 0 0
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis 		22 0 4 0.11 0 0
CUI: C0265289
Disease: Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Schmid type 		12 16 3 0.10 1 5.6E-02
CUI: C1850171
Disease: Neonatal short-limb short stature
Neonatal short-limb short stature 		12 0 3 0.10 0 0
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity 		34 0 5 0.10 0 0
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		46 0 6 1.0E-01 0 0
CUI: C1266018
Disease: Hepatocellular carcinoma, scirrhous
Hepatocellular carcinoma, scirrhous 		2 0 2 1.0E-01 0 0
CUI: C1834980
Disease: Metaphyseal cupping of proximal phalanges
Metaphyseal cupping of proximal phalanges 		2 0 2 1.0E-01 0 0
CUI: C1864100
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB
PSEUDOHYPOPARATHYROIDISM, TYPE IB 		13 0 3 1.0E-01 0 0
CUI: C1855665
Disease: Ovoid vertebral bodies
Ovoid vertebral bodies 		25 0 4 9.8E-02 0 0
CUI: C0745106
Disease: hyperparathyroid
hyperparathyroid 		14 0 3 9.7E-02 0 0
CUI: C1835473
Disease: Diaphyseal thickening
Diaphyseal thickening 		14 0 3 9.7E-02 0 0
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		37 0 5 9.6E-02 0 0
CUI: C0242699
Disease: Bone Demineralization, Pathologic
Bone Demineralization, Pathologic 		3 0 2 9.5E-02 0 0