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: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		91 0 16 9.2E-02 0 0
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		39 0 10 7.9E-02 0 0
CUI: C0752323
Disease: Focal Clonic Seizures
Focal Clonic Seizures 		12 0 8 7.8E-02 0 0
CUI: C4023511
Disease: Obtundation status
Obtundation status 		12 0 8 7.8E-02 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 0 14 7.4E-02 0 0
CUI: C0033922
Disease: Psychomotor Disorders
Psychomotor Disorders 		7 0 7 7.1E-02 0 0
CUI: C0751456
Disease: Developmental Psychomotor Disorders
Developmental Psychomotor Disorders 		7 0 7 7.1E-02 0 0
CUI: C0877017
Disease: Generalized tonic-clonic seizures with focal onset
Generalized tonic-clonic seizures with focal onset 		23 0 8 7.1E-02 0 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		191 0 19 7.0E-02 0 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		271 13 24 7.0E-02 2 0.11
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		41 0 9 6.9E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 68 6.9E-02 4 2.4E-02
CUI: C1968564
Disease: Defective DNA repair after ultraviolet radiation damage
Defective DNA repair after ultraviolet radiation damage 		12 0 7 6.8E-02 0 0
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular 		62 0 10 6.7E-02 0 0
CUI: C1854699
Disease: Diffuse cerebellar atrophy
Diffuse cerebellar atrophy 		17 0 7 6.5E-02 0 0
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration 		20 0 7 6.3E-02 0 0
CUI: C0423820
Disease: Ridged nails
Ridged nails 		22 0 7 6.2E-02 0 0
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		57 0 9 6.2E-02 0 0
CUI: C4022736
Disease: Impaired social reciprocity
Impaired social reciprocity 		6 0 6 6.1E-02 0 0
CUI: C4023792
Disease: Paraplegia/paraparesis
Paraplegia/paraparesis 		6 0 6 6.1E-02 0 0
CUI: C4024892
Disease: Congenital exfoliative erythroderma
Congenital exfoliative erythroderma 		6 0 6 6.1E-02 0 0
CUI: C4732857
Disease: Hypoplasia of mandible relative to maxilla
Hypoplasia of mandible relative to maxilla 		6 0 6 6.1E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 61 6.1E-02 3 5.1E-03
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		42 0 8 6.1E-02 0 0
CUI: C4073178
Disease: Tiger tail banding
Tiger tail banding 		7 0 6 6.1E-02 0 0