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: C0268464
Disease: Transient hyperphenylalaninemia
Transient hyperphenylalaninemia 		6 0 4 0.50 0 0
CUI: C0751436
Disease: Hyperphenylalaninemia, Non-Phenylketonuric
Hyperphenylalaninemia, Non-Phenylketonuric 		9 0 5 0.50 0 0
CUI: C0268467
Disease: Hyperphenylalaninemia, BH4-Deficient, B
Hyperphenylalaninemia, BH4-Deficient, B 		4 0 3 0.43 0 0
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		5 0 3 0.38 0 0
CUI: C0268468
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency 		10 0 3 0.23 0 0
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		30 0 6 0.20 0 0
CUI: C0221727
Disease: Pain in esophagus (finding)
Pain in esophagus (finding) 		1 0 1 0.17 0 0
CUI: C0268461
Disease: Disorder of phenylalanine metabolism
Disorder of phenylalanine metabolism 		1 0 1 0.17 0 0
CUI: C1829648
Disease: Amino acidemias
Amino acidemias 		1 0 1 0.17 0 0
CUI: C1849926
Disease: Phenylpyruvic acidemia
Phenylpyruvic acidemia 		1 0 1 0.17 0 0
CUI: C2678416
Disease: Hyperphenylalaninemia, Non-Pku Mild
Hyperphenylalaninemia, Non-Pku Mild 		1 0 1 0.17 0 0
CUI: C4017280
Disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY 		1 0 1 0.17 0 0
CUI: C4022014
Disease: Maternal hyperphenylalaninemia
Maternal hyperphenylalaninemia 		1 0 1 0.17 0 0
CUI: C4025094
Disease: Reduced phenylalanine hydroxylase activity
Reduced phenylalanine hydroxylase activity 		1 0 1 0.17 0 0
CUI: C4025273
Disease: Atypical hyperphenylalaninemia
Atypical hyperphenylalaninemia 		1 0 1 0.17 0 0
CUI: C0085637
Disease: Oculogyric crisis
Oculogyric crisis 		9 0 2 0.15 0 0
CUI: C0152455
Disease: Keratomalacia
Keratomalacia 		2 0 1 0.14 0 0
CUI: C3697982
Disease: Pulmonary arterial hypertension associated with connective tissue disease
Pulmonary arterial hypertension associated with connective tissue disease 		2 0 1 0.14 0 0
CUI: C4524082
Disease: Segawa syndrome
Segawa syndrome 		2 0 1 0.14 0 0
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		28 0 4 0.13 0 0
CUI: C0026858
Disease: Musculoskeletal Pain
Musculoskeletal Pain 		3 0 1 0.12 0 0
CUI: C0242684
Disease: Hypodynamia
Hypodynamia 		3 0 1 0.12 0 0
CUI: C0751701
Disease: Hypokinesia, Antiorthostatic
Hypokinesia, Antiorthostatic 		3 0 1 0.12 0 0
CUI: C1504405
Disease: Pyramidal Tract Dysfunction
Pyramidal Tract Dysfunction 		3 0 1 0.12 0 0
CUI: C1860162
Disease: Bifid distal phalanx of the thumb
Bifid distal phalanx of the thumb 		3 0 1 0.12 0 0