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: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		4 0 3 0.50 0 0
CUI: C0751436
Disease: Hyperphenylalaninemia, Non-Phenylketonuric
Hyperphenylalaninemia, Non-Phenylketonuric 		9 2 4 0.40 2 5.3E-02
CUI: C4524082
Disease: Segawa syndrome
Segawa syndrome 		2 0 2 0.40 0 0
CUI: C0268464
Disease: Transient hyperphenylalaninemia
Transient hyperphenylalaninemia 		6 1 3 0.38 1 2.6E-02
CUI: C0268465
Disease: Phenylketonuria II
Phenylketonuria II 		6 0 3 0.38 0 0
CUI: C0268467
Disease: Hyperphenylalaninemia, BH4-Deficient, B
Hyperphenylalaninemia, BH4-Deficient, B 		4 0 2 0.29 0 0
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		6 0 2 0.22 0 0
CUI: C0034040
Disease: Puerperal Disorders
Puerperal Disorders 		1 0 1 0.20 0 0
CUI: C0152183
Disease: Explosive personality disorder
Explosive personality disorder 		1 0 1 0.20 0 0
CUI: C0221727
Disease: Pain in esophagus (finding)
Pain in esophagus (finding) 		1 0 1 0.20 0 0
CUI: C0268461
Disease: Disorder of phenylalanine metabolism
Disorder of phenylalanine metabolism 		1 0 1 0.20 0 0
CUI: C0271552
Disease: Idiopathic hyperprolactinemia
Idiopathic hyperprolactinemia 		1 0 1 0.20 0 0
CUI: C0342358
Disease: Drug-induced hyperprolactinemia
Drug-induced hyperprolactinemia 		1 0 1 0.20 0 0
CUI: C0741709
Disease: breast fullness
breast fullness 		1 0 1 0.20 0 0
CUI: C1449721
Disease: Infant Gynecomastia
Infant Gynecomastia 		1 0 1 0.20 0 0
CUI: C1829648
Disease: Amino acidemias
Amino acidemias 		1 0 1 0.20 0 0
CUI: C1849926
Disease: Phenylpyruvic acidemia
Phenylpyruvic acidemia 		1 0 1 0.20 0 0
CUI: C2678416
Disease: Hyperphenylalaninemia, Non-Pku Mild
Hyperphenylalaninemia, Non-Pku Mild 		1 0 1 0.20 0 0
CUI: C3897980
Disease: Pathological Gynecomastia
Pathological Gynecomastia 		1 0 1 0.20 0 0
CUI: C4017280
Disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY 		1 3 1 0.20 2 5.1E-02
CUI: C4022014
Disease: Maternal hyperphenylalaninemia
Maternal hyperphenylalaninemia 		1 0 1 0.20 0 0
CUI: C4025094
Disease: Reduced phenylalanine hydroxylase activity
Reduced phenylalanine hydroxylase activity 		1 0 1 0.20 0 0
CUI: C4025273
Disease: Atypical hyperphenylalaninemia
Atypical hyperphenylalaninemia 		1 0 1 0.20 0 0
CUI: C4280803
Disease: Decreased CSF homovanillic acid
Decreased CSF homovanillic acid 		7 0 2 0.20 0 0
CUI: C4302197
Disease: Macroprolactinemia
Macroprolactinemia 		1 0 1 0.20 0 0