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: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		40 0 1 8.6E-04 0 0
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		40 0 1 8.6E-04 0 0
CUI: C4024780
Disease: Almond-shaped palpebral fissure
Almond-shaped palpebral fissure 		40 0 1 8.6E-04 0 0
CUI: C0454455
Disease: Mirror movements disorder
Mirror movements disorder 		39 0 1 8.6E-04 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 1 8.6E-04 0 0
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		39 0 1 8.6E-04 0 0
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum 		38 0 1 8.6E-04 0 0
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		38 0 1 8.6E-04 0 0
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		38 0 1 8.6E-04 0 0
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		37 0 1 8.6E-04 0 0
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		37 0 1 8.6E-04 0 0
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		36 0 1 8.6E-04 0 0
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		36 0 1 8.6E-04 0 0
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis 		35 0 1 8.6E-04 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 1 8.6E-04 0 0
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		35 0 1 8.6E-04 0 0
CUI: C0020580
Disease: Hypesthesia
Hypesthesia 		33 0 1 8.6E-04 0 0
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		33 0 1 8.6E-04 0 0
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		32 0 1 8.7E-04 0 0
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes 		31 0 1 8.7E-04 0 0
CUI: C4087347
Disease: Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia 		31 0 1 8.7E-04 0 0
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		30 0 1 8.7E-04 0 0
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		30 0 1 8.7E-04 0 0
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		30 0 1 8.7E-04 0 0
CUI: C1849295
Disease: Hypoplastic labia minora
Hypoplastic labia minora 		30 0 1 8.7E-04 0 0