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: C0221727
Disease: Pain in esophagus (finding)
Pain in esophagus (finding) 		1 0 1 0.50 0 0
CUI: C0268467
Disease: Hyperphenylalaninemia, BH4-Deficient, B
Hyperphenylalaninemia, BH4-Deficient, B 		4 0 2 0.50 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 0.50 1 1.8E-02
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		5 0 2 0.40 0 0
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		6 0 2 0.33 0 0
CUI: C3827733
Disease: Umbilical cord occlusion
Umbilical cord occlusion 		2 0 1 0.33 0 0
CUI: C4280803
Disease: Decreased CSF homovanillic acid
Decreased CSF homovanillic acid 		7 0 2 0.29 0 0
CUI: C0026858
Disease: Musculoskeletal Pain
Musculoskeletal Pain 		3 0 1 0.25 0 0
CUI: C0242684
Disease: Hypodynamia
Hypodynamia 		3 0 1 0.25 0 0
CUI: C0549150
Disease: Pseudofolliculitis barbae (disorder)
Pseudofolliculitis barbae (disorder) 		3 0 1 0.25 0 0
CUI: C0751701
Disease: Hypokinesia, Antiorthostatic
Hypokinesia, Antiorthostatic 		3 0 1 0.25 0 0
CUI: C1504405
Disease: Pyramidal Tract Dysfunction
Pyramidal Tract Dysfunction 		3 0 1 0.25 0 0
CUI: C4022403
Disease: Abnormality of the substantia nigra
Abnormality of the substantia nigra 		3 0 1 0.25 0 0
CUI: C0751436
Disease: Hyperphenylalaninemia, Non-Phenylketonuric
Hyperphenylalaninemia, Non-Phenylketonuric 		9 0 2 0.22 0 0
CUI: C1263855
Disease: Lumbar radiculopathy
Lumbar radiculopathy 		4 0 1 0.20 0 0
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		4 0 1 0.20 0 0
CUI: C4025696
Disease: Paresis of extensor muscles of the big toe
Paresis of extensor muscles of the big toe 		4 0 1 0.20 0 0
CUI: C1848954
Disease: Generalized dystonia
Generalized dystonia 		11 0 2 0.18 0 0
CUI: C0231519
Disease: Gegenhalten
Gegenhalten 		5 0 1 0.17 0 0
CUI: C0233608
Disease: Catatonic Rigidity
Catatonic Rigidity 		5 0 1 0.17 0 0
CUI: C0239325
Disease: Extensor Rigidity
Extensor Rigidity 		5 0 1 0.17 0 0
CUI: C0277821
Disease: Extrapyramidal Rigidity
Extrapyramidal Rigidity 		5 0 1 0.17 0 0
CUI: C0342687
Disease: dopamine beta hydroxylase deficiency
dopamine beta hydroxylase deficiency 		5 0 1 0.17 0 0
CUI: C1851945
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		5 0 1 0.17 0 0
CUI: C2717866
Disease: Vestibulodynia
Vestibulodynia 		5 0 1 0.17 0 0