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: C0751436
Disease: Hyperphenylalaninemia, Non-Phenylketonuric
Hyperphenylalaninemia, Non-Phenylketonuric 		9 0 3 0.20 0 0
CUI: C0268467
Disease: Hyperphenylalaninemia, BH4-Deficient, B
Hyperphenylalaninemia, BH4-Deficient, B 		4 0 2 0.18 0 0
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		4 0 2 0.18 0 0
CUI: C0342686
Disease: Aromatic amino acid decarboxylase deficiency
Aromatic amino acid decarboxylase deficiency 		5 0 2 0.17 0 0
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		5 0 2 0.17 0 0
CUI: C1820737
Disease: Temperature instability
Temperature instability 		12 0 3 0.17 0 0
CUI: C0242423
Disease: Ramsay Hunt Paralysis Syndrome
Ramsay Hunt Paralysis Syndrome 		28 0 5 0.16 0 0
CUI: C0752097
Disease: Autosomal Dominant Juvenile Parkinson Disease
Autosomal Dominant Juvenile Parkinson Disease 		28 0 5 0.16 0 0
CUI: C0752101
Disease: Parkinsonism, Experimental
Parkinsonism, Experimental 		28 0 5 0.16 0 0
CUI: C0752104
Disease: Familial Juvenile Parkinsonism
Familial Juvenile Parkinsonism 		28 0 5 0.16 0 0
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		28 0 5 0.16 0 0
CUI: C0268464
Disease: Transient hyperphenylalaninemia
Transient hyperphenylalaninemia 		6 0 2 0.15 0 0
CUI: C0268465
Disease: Phenylketonuria II
Phenylketonuria II 		6 0 2 0.15 0 0
CUI: C4476759
Disease: Stooped posture
Stooped posture 		6 0 2 0.15 0 0
CUI: C3668948
Disease: Circling behavior
Circling behavior 		14 0 3 0.15 0 0
CUI: C0813217
Disease: Expressionless face
Expressionless face 		31 0 5 0.14 0 0
CUI: C1291564
Disease: Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of aromatic-L-amino-acid decarboxylase 		7 0 2 0.14 0 0
CUI: C1850100
Disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder)
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder) 		7 0 2 0.14 0 0
CUI: C4280803
Disease: Decreased CSF homovanillic acid
Decreased CSF homovanillic acid 		7 0 2 0.14 0 0
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		33 0 5 0.14 0 0
CUI: C0752098
Disease: Autosomal Dominant Parkinsonism
Autosomal Dominant Parkinsonism 		34 0 5 0.13 0 0
CUI: C0008043
Disease: Chiari-Frommel Syndrome
Chiari-Frommel Syndrome 		9 0 2 0.12 0 0
CUI: C0011251
Disease: Delusional disorder
Delusional disorder 		9 0 2 0.12 0 0
CUI: C0268468
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency 		10 0 2 0.12 0 0
CUI: C0752105
Disease: Parkinsonism, Juvenile
Parkinsonism, Juvenile 		40 0 5 0.11 0 0