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: C3554447
Disease: DYSTONIA 25
DYSTONIA 25
2 0 2 0.50 0 0
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder)
4 0 2 0.33 0 0
CUI: C0234174
Disease: Sucking reflex
Sucking reflex
1 0 1 0.25 0 0
CUI: C0234966
Disease: Astasia
Astasia
1 0 1 0.25 0 0
CUI: C4020941
Disease: Sclerosis of finger phalanx
Sclerosis of finger phalanx
1 0 1 0.25 0 0
Fatigable weakness of speech muscles
1 0 1 0.25 0 0
CUI: C4073157
Disease: Decreased CSF biopterin level
Decreased CSF biopterin level
1 0 1 0.25 0 0
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
1 0 1 0.25 0 0
CUI: C4476790
Disease: Decreased CSF protein
Decreased CSF protein
1 0 1 0.25 0 0
CUI: C4476891
Disease: Decreased CSF/serum albumin ratio
Decreased CSF/serum albumin ratio
1 0 1 0.25 0 0
Reduced brain glutamine level by MRS
1 0 1 0.25 0 0
CUI: C4476932
Disease: Tarsal sclerosis
Tarsal sclerosis
1 0 1 0.25 0 0
CUI: C4477005
Disease: Impaired oral bolus formation
Impaired oral bolus formation
1 0 1 0.25 0 0
Adult-Onset Idiopathic Focal Dystonias
7 0 2 0.22 0 0
Adult-Onset Idiopathic Torsion Dystonias
7 0 2 0.22 0 0
Autosomal Dominant Familial Dystonia
7 0 2 0.22 0 0
Autosomal Recessive Familial Dystonia
7 0 2 0.22 0 0
CUI: C0752206
Disease: Dystonias, Sporadic
Dystonias, Sporadic
7 0 2 0.22 0 0
CUI: C0752208
Disease: Pseudodystonia
Pseudodystonia
7 0 2 0.22 0 0
CUI: C0025183
Disease: Meige Syndrome
Meige Syndrome
2 0 1 0.20 0 0
CUI: C0393604
Disease: Isolated blepharospasm
Isolated blepharospasm
2 0 1 0.20 0 0
CUI: C4022763
Disease: Elevated brain choline level by MRS
Elevated brain choline level by MRS
2 0 1 0.20 0 0
Decreased CSF 5-hydroxyindolacetic acid
2 0 1 0.20 0 0
CUI: C4476792
Disease: High myoinositol in brain by MRS
High myoinositol in brain by MRS
2 0 1 0.20 0 0
CUI: C0393598
Disease: Idiopathic familial dystonia
Idiopathic familial dystonia
9 0 2 0.18 0 0