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 2 0.25
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		2 13 2 0.14 2 0.11
CUI: C1456852
Disease: Ventouse delivery (finding)
Ventouse delivery (finding) 		3 3 2 0.13 2 0.25
CUI: C4021227
Disease: Underdeveloped nasolabial fold
Underdeveloped nasolabial fold 		3 2 2 0.13 1 0.12
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
Abnormality of the cerebral ventricles 		4 5 2 0.12 1 9.1E-02
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		7 5 2 0.11 1 9.1E-02
CUI: C4021217
Disease: EEG with generalized slow activity
EEG with generalized slow activity 		8 6 2 1.0E-01 2 0.18
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
Abnormal subcutaneous fat tissue distribution 		9 2 2 9.5E-02 1 0.12
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination 		21 4 3 9.4E-02 1 1.0E-01
CUI: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery 		10 10 2 9.1E-02 2 0.13
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin 		11 4 2 8.7E-02 1 1.0E-01
CUI: C4022810
Disease: Abnormality of nervous system morphology
Abnormality of nervous system morphology 		13 0 2 8.0E-02 0 0
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		27 6 3 7.9E-02 3 0.30
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder) 		27 7 3 7.9E-02 2 0.17
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		14 9 2 7.7E-02 1 6.7E-02
CUI: C1859606
Disease: Decreased number of large peripheral myelinated nerve fibers
Decreased number of large peripheral myelinated nerve fibers 		14 0 2 7.7E-02 0 0
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		30 25 3 7.3E-02 3 0.10
CUI: C0472792
Disease: Hemolytic anemia due to hexokinase deficiency
Hemolytic anemia due to hexokinase deficiency 		1 0 1 7.1E-02 0 0
CUI: C1834692
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA 		1 0 1 7.1E-02 0 0
CUI: C1854449
Disease: Neuropathy, hereditary motor and sensory, Russe type
Neuropathy, hereditary motor and sensory, Russe type 		1 0 1 7.1E-02 0 0
CUI: C3150343
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY 		1 0 1 7.1E-02 0 0
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		1 29 1 7.1E-02 1 2.9E-02
CUI: C4023074
Disease: EEG with parietal focal spikes
EEG with parietal focal spikes 		1 0 1 7.1E-02 0 0
CUI: C4225200
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 		1 0 1 7.1E-02 0 0
CUI: C4225667
Disease: CHROMOSOME 16p13.2 DELETION SYNDROME
CHROMOSOME 16p13.2 DELETION SYNDROME 		1 0 1 7.1E-02 0 0