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: C4310699
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 		2 3 2 0.14 1 9.1E-02
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		2 13 2 0.14 2 1.0E-01
CUI: C1456852
Disease: Ventouse delivery (finding)
Ventouse delivery (finding) 		3 3 2 0.13 1 9.1E-02
CUI: C1850056
Disease: Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome 		3 0 2 0.13 0 0
CUI: C4021227
Disease: Underdeveloped nasolabial fold
Underdeveloped nasolabial fold 		3 2 2 0.13 2 0.22
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
D-2-HYDROXYGLUTARIC ACIDURIA 1 		4 0 2 0.12 0 0
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
Abnormality of the cerebral ventricles 		4 5 2 0.12 2 0.17
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		7 5 2 0.11 2 0.17
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		7 0 2 0.11 0 0
CUI: C0268594
Disease: Glutaric aciduria
Glutaric aciduria 		8 0 2 1.0E-01 0 0
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 122 6 9.8E-02 1 7.7E-03
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
Abnormal subcutaneous fat tissue distribution 		9 2 2 9.5E-02 2 0.22
CUI: C1846868
Disease: Parkinsonism with favorable response to dopaminergic medication
Parkinsonism with favorable response to dopaminergic medication 		21 2 3 9.4E-02 1 1.0E-01
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination 		21 4 3 9.4E-02 2 0.18
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		10 7 2 9.1E-02 2 0.14
CUI: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery 		10 10 2 9.1E-02 1 5.6E-02
CUI: C0438414
Disease: Myoclonic Encephalopathy
Myoclonic Encephalopathy 		11 0 2 8.7E-02 0 0
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin 		11 4 2 8.7E-02 2 0.18
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		11 0 2 8.7E-02 0 0
CUI: C0752323
Disease: Focal Clonic Seizures
Focal Clonic Seizures 		12 0 2 8.3E-02 0 0
CUI: C4023511
Disease: Obtundation status
Obtundation status 		12 0 2 8.3E-02 0 0
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		14 7 2 7.7E-02 1 6.7E-02
CUI: C1846131
Disease: Photosensitive tonic-clonic seizures
Photosensitive tonic-clonic seizures 		14 0 2 7.7E-02 0 0
CUI: C4023484
Disease: Uni- and bilateral multifocal epileptiform discharges
Uni- and bilateral multifocal epileptiform discharges 		14 0 2 7.7E-02 0 0
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail 		15 0 2 7.4E-02 0 0