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: C0455938
Disease: Large adenoids
Large adenoids
1 1 1 1.00 1 1.00
Mildly elevated creatine phosphokinase
1 0 1 1.00 0 0
CUI: C4310633
Disease: DYSTONIA 28, CHILDHOOD-ONSET
DYSTONIA 28, CHILDHOOD-ONSET
1 17 1 1.00 1 5.9E-02
CUI: C1860216
Disease: Progressive choreoathetosis
Progressive choreoathetosis
2 0 1 0.50 0 0
CUI: C1861239
Disease: Plantar flexion contractures
Plantar flexion contractures
2 2 1 0.50 1 0.50
CUI: C4531037
Disease: Bronchial isomerism
Bronchial isomerism
2 0 1 0.50 0 0
High nonceruloplasmin-bound serum copper
3 0 1 0.33 0 0
CUI: C3279904
Disease: Lactate Dehydrogenase B Deficiency
Lactate Dehydrogenase B Deficiency
3 0 1 0.33 0 0
CUI: C3874374
Disease: Oncovirus infection
Oncovirus infection
3 0 1 0.33 0 0
CUI: C3887667
Disease: Retrocollis
Retrocollis
3 0 1 0.33 0 0
Iron accumulation in substantia nigra
3 0 1 0.33 0 0
Iron accumulation in globus pallidus
3 0 1 0.33 0 0
CUI: C0154856
Disease: Retinal lattice degeneration
Retinal lattice degeneration
4 0 1 0.25 0 0
CUI: C1883694
Disease: Intraocular Medulloepithelioma
Intraocular Medulloepithelioma
4 0 1 0.25 0 0
CUI: C1859979
Disease: Precocious puberty in males
Precocious puberty in males
5 3 1 0.20 1 0.33
Undifferentiated spindle cell sarcoma
5 0 1 0.20 0 0
CUI: C1834664
Disease: Nasal, dysarthic speech
Nasal, dysarthic speech
6 0 1 0.17 0 0
Adult-Onset Idiopathic Focal Dystonias
7 0 1 0.14 0 0
Adult-Onset Idiopathic Torsion Dystonias
7 0 1 0.14 0 0
Autosomal Dominant Familial Dystonia
7 0 1 0.14 0 0
Autosomal Recessive Familial Dystonia
7 0 1 0.14 0 0
CUI: C0752206
Disease: Dystonias, Sporadic
Dystonias, Sporadic
7 0 1 0.14 0 0
CUI: C0752208
Disease: Pseudodystonia
Pseudodystonia
7 0 1 0.14 0 0
CUI: C4551676
Disease: Laryngismus stridulus
Laryngismus stridulus
7 0 1 0.14 0 0
CUI: C0393598
Disease: Idiopathic familial dystonia
Idiopathic familial dystonia
9 0 1 0.11 0 0