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: C0011999
Disease: Diastematomyelia
Diastematomyelia 		28 0 28 0.68 0 0
CUI: C0152234
Disease: Iniencephaly
Iniencephaly 		28 0 28 0.68 0 0
CUI: C0344479
Disease: Spinal Cord Myelodysplasia
Spinal Cord Myelodysplasia 		28 0 28 0.68 0 0
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst 		29 0 28 0.67 0 0
CUI: C0702169
Disease: Acrania
Acrania 		31 0 28 0.64 0 0
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis 		38 0 28 0.55 0 0
CUI: C0266453
Disease: Exencephaly
Exencephaly 		47 0 28 0.47 0 0
CUI: C1960883
Disease: Spina bifida aperta of cervical spine
Spina bifida aperta of cervical spine 		6 0 6 0.15 0 0
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis 		15 0 7 0.14 0 0
CUI: C4024669
Disease: Asymmetry of spinal facet joints
Asymmetry of spinal facet joints 		5 0 5 0.12 0 0
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		89 0 13 0.11 0 0
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		11 0 5 0.11 0 0
CUI: C0266508
Disease: Rachischisis
Rachischisis 		15 0 5 9.8E-02 0 0
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta 		76 0 10 9.3E-02 0 0
CUI: C1866558
Disease: Neural tube defect, folate-sensitive
Neural tube defect, folate-sensitive 		8 0 4 8.9E-02 0 0
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		304 0 28 8.8E-02 0 0
CUI: C0002902
Disease: Anencephaly
Anencephaly 		59 0 8 8.7E-02 0 0
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		179 61 17 8.4E-02 1 1.6E-02
CUI: C0038219
Disease: Status Dysraphicus
Status Dysraphicus 		12 0 4 8.2E-02 0 0
CUI: C0300948
Disease: Caudal Regression Syndrome
Caudal Regression Syndrome 		12 0 4 8.2E-02 0 0
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		69 0 8 7.8E-02 0 0
CUI: C1969176
Disease: Hypoplastic pubic rami
Hypoplastic pubic rami 		3 0 3 7.3E-02 0 0
CUI: C4024660
Disease: Aplasia/Hypoplasia of the sacrum
Aplasia/Hypoplasia of the sacrum 		4 0 3 7.1E-02 0 0
CUI: C0039144
Disease: Syringomyelia
Syringomyelia 		35 0 5 7.0E-02 0 0
CUI: C1845027
Disease: Spina Bifida, X-Linked
Spina Bifida, X-Linked 		5 0 3 7.0E-02 0 0