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: C4024669
Disease: Asymmetry of spinal facet joints
Asymmetry of spinal facet joints 		5 0 5 0.33 0 0
CUI: C0300948
Disease: Caudal Regression Syndrome
Caudal Regression Syndrome 		12 0 6 0.29 0 0
CUI: C1960883
Disease: Spina bifida aperta of cervical spine
Spina bifida aperta of cervical spine 		6 0 4 0.24 0 0
CUI: C4024660
Disease: Aplasia/Hypoplasia of the sacrum
Aplasia/Hypoplasia of the sacrum 		4 0 3 0.19 0 0
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		11 0 4 0.18 0 0
CUI: C1735591
Disease: VACTERL Association
VACTERL Association 		15 0 4 0.15 0 0
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		41 0 7 0.14 0 0
CUI: C0431415
Disease: Lumbosacral agenesis
Lumbosacral agenesis 		2 0 2 0.13 0 0
CUI: C1838568
Disease: Sacral defect and anterior sacral meningocele
Sacral defect and anterior sacral meningocele 		2 0 2 0.13 0 0
CUI: C1838569
Disease: Caudal Dysgenesis Syndrome
Caudal Dysgenesis Syndrome 		2 0 2 0.13 0 0
CUI: C1867774
Disease: Sacral Agenesis Syndrome
Sacral Agenesis Syndrome 		2 0 2 0.13 0 0
CUI: C1867776
Disease: Anterior sacral meningocele
Anterior sacral meningocele 		2 0 2 0.13 0 0
CUI: C2609260
Disease: Caudal dysplasia syndrome
Caudal dysplasia syndrome 		2 0 2 0.13 0 0
CUI: C2677632
Disease: Hemisacrum
Hemisacrum 		2 0 2 0.13 0 0
CUI: C2931228
Disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS 		2 0 2 0.13 0 0
CUI: C4023156
Disease: Abnormality of the wing of the ilium
Abnormality of the wing of the ilium 		2 0 2 0.13 0 0
CUI: C4733128
Disease: familial chordoma
familial chordoma 		2 0 2 0.13 0 0
CUI: C0011999
Disease: Diastematomyelia
Diastematomyelia 		28 0 5 0.13 0 0
CUI: C0152234
Disease: Iniencephaly
Iniencephaly 		28 0 5 0.13 0 0
CUI: C0344479
Disease: Spinal Cord Myelodysplasia
Spinal Cord Myelodysplasia 		28 0 5 0.13 0 0
CUI: C4025167
Disease: Abnormal vertebral segmentation and fusion
Abnormal vertebral segmentation and fusion 		11 0 3 0.13 0 0
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst 		29 0 5 0.13 0 0
CUI: C0702169
Disease: Acrania
Acrania 		31 0 5 0.12 0 0
CUI: C0221215
Disease: Common atrioventricular canal
Common atrioventricular canal 		4 0 2 0.12 0 0
CUI: C0078982
Disease: Arhinencephaly
Arhinencephaly 		35 0 5 0.11 0 0