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 0.90 0 0
CUI: C0152234
Disease: Iniencephaly
Iniencephaly 		28 0 28 0.90 0 0
CUI: C0344479
Disease: Spinal Cord Myelodysplasia
Spinal Cord Myelodysplasia 		28 0 28 0.90 0 0
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst 		29 0 28 0.88 0 0
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis 		38 0 28 0.68 0 0
CUI: C0266453
Disease: Exencephaly
Exencephaly 		47 0 31 0.66 0 0
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		41 0 28 0.64 0 0
CUI: C1960883
Disease: Spina bifida aperta of cervical spine
Spina bifida aperta of cervical spine 		6 0 6 0.19 0 0
CUI: C4024669
Disease: Asymmetry of spinal facet joints
Asymmetry of spinal facet joints 		5 0 5 0.16 0 0
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		11 0 5 0.14 0 0
CUI: C0266508
Disease: Rachischisis
Rachischisis 		15 0 5 0.12 0 0
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis 		15 0 5 0.12 0 0
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		89 0 13 0.12 0 0
CUI: C1866558
Disease: Neural tube defect, folate-sensitive
Neural tube defect, folate-sensitive 		8 0 4 0.11 0 0
CUI: C0037917
Disease: Spina Bifida Cystica
Spina Bifida Cystica 		21 0 5 0.11 0 0
CUI: C0038219
Disease: Status Dysraphicus
Status Dysraphicus 		12 0 4 0.10 0 0
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		304 0 31 0.10 0 0
CUI: C0002902
Disease: Anencephaly
Anencephaly 		59 0 8 9.8E-02 0 0
CUI: C1845027
Disease: Spina Bifida, X-Linked
Spina Bifida, X-Linked 		5 0 3 9.1E-02 0 0
CUI: C1866559
Disease: Spina Bifida, Folate-Sensitive
Spina Bifida, Folate-Sensitive 		5 0 3 9.1E-02 0 0
CUI: C1845026
Disease: Neural tube defects X-linked
Neural tube defects X-linked 		6 0 3 8.8E-02 0 0
CUI: C2751584
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration Due To Cerebral Folate Transport Deficiency 		8 0 3 8.3E-02 0 0
CUI: C4551722
Disease: Encephalocele
Encephalocele 		23 0 4 8.0E-02 0 0
CUI: C0745730
Disease: Multiple lipomata
Multiple lipomata 		38 0 5 7.8E-02 0 0
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		179 0 15 7.7E-02 0 0