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: C1853296
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3 		6 0 2 9.1E-02 0 0
CUI: C1856786
Disease: Hypoplastic fingernail
Hypoplastic fingernail 		30 0 4 9.1E-02 0 0
CUI: C1960883
Disease: Spina bifida aperta of cervical spine
Spina bifida aperta of cervical spine 		6 0 2 9.1E-02 0 0
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		7 0 2 8.7E-02 0 0
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		7 0 2 8.7E-02 0 0
CUI: C1855052
Disease: MICROPHTHALMIA, ISOLATED 1
MICROPHTHALMIA, ISOLATED 1 		8 0 2 8.3E-02 0 0
CUI: C4020966
Disease: Abnormally ossified vertebrae
Abnormally ossified vertebrae 		8 0 2 8.3E-02 0 0
CUI: C4024159
Disease: Aplasia/Hypoplasia involving the nose
Aplasia/Hypoplasia involving the nose 		8 0 2 8.3E-02 0 0
CUI: C4024597
Disease: Aplasia/Hypoplasia involving the pelvis
Aplasia/Hypoplasia involving the pelvis 		8 0 2 8.3E-02 0 0
CUI: C4551977
Disease: Microphthalmos, Autosomal Recessive
Microphthalmos, Autosomal Recessive 		8 0 2 8.3E-02 0 0
CUI: C1853638
Disease: Broad neck
Broad neck 		22 10 3 8.1E-02 1 1.0E-01
CUI: C1861443
Disease: Facial hemangioma
Facial hemangioma 		9 0 2 8.0E-02 0 0
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		10 0 2 7.7E-02 0 0
CUI: C2748518
Disease: Lumbar scoliosis
Lumbar scoliosis 		10 0 2 7.7E-02 0 0
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		25 0 3 7.5E-02 0 0
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		40 0 4 7.4E-02 0 0
CUI: C1863353
Disease: Hypoplastic vertebral bodies
Hypoplastic vertebral bodies 		11 0 2 7.4E-02 0 0
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		11 0 2 7.4E-02 0 0
CUI: C4021777
Disease: Abnormality of the larynx
Abnormality of the larynx 		11 0 2 7.4E-02 0 0
CUI: C0300948
Disease: Caudal Regression Syndrome
Caudal Regression Syndrome 		12 0 2 7.1E-02 0 0
CUI: C0011999
Disease: Diastematomyelia
Diastematomyelia 		28 0 3 7.0E-02 0 0
CUI: C0152234
Disease: Iniencephaly
Iniencephaly 		28 0 3 7.0E-02 0 0
CUI: C0344479
Disease: Spinal Cord Myelodysplasia
Spinal Cord Myelodysplasia 		28 0 3 7.0E-02 0 0
CUI: C1384670
Disease: Single umbilical artery
Single umbilical artery 		28 0 3 7.0E-02 0 0
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst 		29 0 3 6.8E-02 0 0