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: C4524082
Disease: Segawa syndrome
Segawa syndrome 		2 0 2 0.50 0 0
CUI: C0268465
Disease: Phenylketonuria II
Phenylketonuria II 		6 0 3 0.43 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 56 2 0.33 3 4.5E-02
CUI: C0751436
Disease: Hyperphenylalaninemia, Non-Phenylketonuric
Hyperphenylalaninemia, Non-Phenylketonuric 		9 0 3 0.30 0 0
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		5 0 2 0.29 0 0
CUI: C0221727
Disease: Pain in esophagus (finding)
Pain in esophagus (finding) 		1 0 1 0.25 0 0
CUI: C0268464
Disease: Transient hyperphenylalaninemia
Transient hyperphenylalaninemia 		6 0 2 0.25 0 0
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		6 0 2 0.25 0 0
CUI: C4280803
Disease: Decreased CSF homovanillic acid
Decreased CSF homovanillic acid 		7 0 2 0.22 0 0
CUI: C3827733
Disease: Umbilical cord occlusion
Umbilical cord occlusion 		2 0 1 0.20 0 0
CUI: C0085637
Disease: Oculogyric crisis
Oculogyric crisis 		9 0 2 0.18 0 0
CUI: C0026858
Disease: Musculoskeletal Pain
Musculoskeletal Pain 		3 0 1 0.17 0 0
CUI: C0242684
Disease: Hypodynamia
Hypodynamia 		3 0 1 0.17 0 0
CUI: C0268468
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency 		10 0 2 0.17 0 0
CUI: C0549150
Disease: Pseudofolliculitis barbae (disorder)
Pseudofolliculitis barbae (disorder) 		3 0 1 0.17 0 0
CUI: C0751701
Disease: Hypokinesia, Antiorthostatic
Hypokinesia, Antiorthostatic 		3 0 1 0.17 0 0
CUI: C1504405
Disease: Pyramidal Tract Dysfunction
Pyramidal Tract Dysfunction 		3 0 1 0.17 0 0
CUI: C4022403
Disease: Abnormality of the substantia nigra
Abnormality of the substantia nigra 		3 0 1 0.17 0 0
CUI: C1848954
Disease: Generalized dystonia
Generalized dystonia 		11 0 2 0.15 0 0
CUI: C1263855
Disease: Lumbar radiculopathy
Lumbar radiculopathy 		4 0 1 0.14 0 0
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		4 0 1 0.14 0 0
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		28 33 4 0.14 10 0.28
CUI: C4025696
Disease: Paresis of extensor muscles of the big toe
Paresis of extensor muscles of the big toe 		4 0 1 0.14 0 0
CUI: C3888090
Disease: Early onset torsion dystonia
Early onset torsion dystonia 		22 0 3 0.13 0 0
CUI: C0231519
Disease: Gegenhalten
Gegenhalten 		5 0 1 0.12 0 0