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: C1837639
Disease: Intermittent hypothermia
Intermittent hypothermia 		3 0 2 0.67 0 0
CUI: C1291564
Disease: Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of aromatic-L-amino-acid decarboxylase 		7 16 2 0.29 1 6.2E-02
CUI: C4280803
Disease: Decreased CSF homovanillic acid
Decreased CSF homovanillic acid 		7 2 2 0.29 1 0.50
CUI: C0342686
Disease: Aromatic amino acid decarboxylase deficiency
Aromatic amino acid decarboxylase deficiency 		5 0 1 0.17 0 0
CUI: C0027429
Disease: Nasal obstruction present finding
Nasal obstruction present finding 		7 0 1 0.12 0 0
CUI: C0085637
Disease: Oculogyric crisis
Oculogyric crisis 		9 0 1 1.0E-01 0 0
CUI: C0936215
Disease: Vitamin B 6 Deficiency
Vitamin B 6 Deficiency 		11 0 1 8.3E-02 0 0
CUI: C1820737
Disease: Temperature instability
Temperature instability 		12 0 1 7.7E-02 0 0
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		30 17 2 6.7E-02 1 5.9E-02
CUI: C3668948
Disease: Circling behavior
Circling behavior 		14 0 1 6.7E-02 0 0
CUI: C0234366
Disease: Ataxic
Ataxic 		15 0 1 6.2E-02 0 0
CUI: C1847515
Disease: Paroxysmal involuntary eye movements
Paroxysmal involuntary eye movements 		39 0 2 5.1E-02 0 0
CUI: C0026205
Disease: Miosis disorder
Miosis disorder 		20 0 1 4.8E-02 0 0
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		43 0 2 4.7E-02 0 0
CUI: C0086439
Disease: Hypokinesia
Hypokinesia 		47 2 2 4.3E-02 1 0.50
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		25 0 1 3.8E-02 0 0
CUI: C4046029
Disease: Mental Disorders, Severe
Mental Disorders, Severe 		26 0 1 3.7E-02 0 0
CUI: C0242423
Disease: Ramsay Hunt Paralysis Syndrome
Ramsay Hunt Paralysis Syndrome 		28 0 1 3.4E-02 0 0
CUI: C0752097
Disease: Autosomal Dominant Juvenile Parkinson Disease
Autosomal Dominant Juvenile Parkinson Disease 		28 0 1 3.4E-02 0 0
CUI: C0752101
Disease: Parkinsonism, Experimental
Parkinsonism, Experimental 		28 0 1 3.4E-02 0 0
CUI: C0752104
Disease: Familial Juvenile Parkinsonism
Familial Juvenile Parkinsonism 		28 0 1 3.4E-02 0 0
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		28 0 1 3.4E-02 0 0
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		31 0 1 3.1E-02 0 0
CUI: C4722306
Disease: Metastatic Neuroblastoma
Metastatic Neuroblastoma 		31 0 1 3.1E-02 0 0
CUI: C0013386
Disease: Dyskinesia, Drug-Induced
Dyskinesia, Drug-Induced 		32 0 1 3.0E-02 0 0