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: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		304 122 47 0.14 5 3.5E-02
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis 		38 0 15 0.13 0 0
CUI: C0011999
Disease: Diastematomyelia
Diastematomyelia 		28 0 13 0.12 0 0
CUI: C0152234
Disease: Iniencephaly
Iniencephaly 		28 0 13 0.12 0 0
CUI: C0344479
Disease: Spinal Cord Myelodysplasia
Spinal Cord Myelodysplasia 		28 0 13 0.12 0 0
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst 		29 0 13 0.12 0 0
CUI: C0702169
Disease: Acrania
Acrania 		31 0 13 0.12 0 0
CUI: C0266453
Disease: Exencephaly
Exencephaly 		47 0 14 0.11 0 0
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		179 61 27 0.11 4 4.8E-02
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		41 0 13 0.11 0 0
CUI: C0002902
Disease: Anencephaly
Anencephaly 		59 10 14 0.10 2 5.7E-02
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		11 30 9 9.9E-02 4 7.5E-02
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta 		76 6 11 7.1E-02 2 6.5E-02
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		85 13 11 6.7E-02 2 5.3E-02
CUI: C1960883
Disease: Spina bifida aperta of cervical spine
Spina bifida aperta of cervical spine 		6 0 6 6.7E-02 0 0
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency 		70 8 9 6.0E-02 1 2.9E-02
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 10 5.8E-02 0 0
CUI: C1301700
Disease: Cardiovascular morbidity
Cardiovascular morbidity 		75 0 9 5.8E-02 0 0
CUI: C4551722
Disease: Encephalocele
Encephalocele 		23 0 6 5.7E-02 0 0
CUI: C0086664
Disease: Myelocele
Myelocele 		5 1 5 5.6E-02 1 3.7E-02
CUI: C4024669
Disease: Asymmetry of spinal facet joints
Asymmetry of spinal facet joints 		5 0 5 5.6E-02 0 0
CUI: C0020492
Disease: Hyperostosis
Hyperostosis 		50 0 7 5.3E-02 0 0
CUI: C1096293
Disease: Macroangiopathy
Macroangiopathy 		31 6 6 5.3E-02 1 3.1E-02
CUI: C0038219
Disease: Status Dysraphicus
Status Dysraphicus 		12 0 5 5.2E-02 0 0
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		53 0 7 5.2E-02 0 0