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: C1291560
Disease: Deficiency of glutamate decarboxylase
Deficiency of glutamate decarboxylase 		2 0 1 0.50 0 0
CUI: C2931835
Disease: Hyperprolinemia type 2
Hyperprolinemia type 2 		3 0 1 0.33 0 0
CUI: C0342686
Disease: Aromatic amino acid decarboxylase deficiency
Aromatic amino acid decarboxylase deficiency 		5 0 1 0.20 0 0
CUI: C1291312
Disease: Deficiency of oxidase
Deficiency of oxidase 		7 0 1 0.14 0 0
CUI: C1291564
Disease: Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of aromatic-L-amino-acid decarboxylase 		7 0 1 0.14 0 0
CUI: C1849508
Disease: EPILEPSY, PYRIDOXINE-DEPENDENT
EPILEPSY, PYRIDOXINE-DEPENDENT 		25 0 1 4.0E-02 0 0
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		27 0 1 3.7E-02 0 0
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy 		32 0 1 3.1E-02 0 0
CUI: C0009024
Disease: Clonus
Clonus 		60 0 1 1.7E-02 0 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		62 0 1 1.6E-02 0 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		171 0 1 5.8E-03 0 0
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		183 0 1 5.5E-03 0 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		197 0 1 5.1E-03 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 1 4.8E-03 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 1 4.4E-03 0 0
CUI: C0003578
Disease: Apnea
Apnea 		262 0 1 3.8E-03 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 1 3.8E-03 0 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		271 0 1 3.7E-03 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 1 3.2E-03 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 0 1 2.8E-03 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 1 2.4E-03 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 1 2.3E-03 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 0 1 1.9E-03 0 0
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		533 0 1 1.9E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 1 1.4E-03 0 0