Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Drug Metabolism, Poor, CYP2D6-Related
1 0 1 5.0E-02 0 0
CUI: C1842382
Disease: Epilepsy, Benign Neonatal, 3
Epilepsy, Benign Neonatal, 3
1 0 1 5.0E-02 0 0
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
1 0 1 5.0E-02 0 0
CUI: C1865818
Disease: DYSTONIA 7, TORSION (disorder)
DYSTONIA 7, TORSION (disorder)
1 0 1 5.0E-02 0 0
CUI: C1865819
Disease: CERVICAL DYSTONIA, PRIMARY
CERVICAL DYSTONIA, PRIMARY
1 0 1 5.0E-02 0 0
CUI: C1960046
Disease: Mild persistent asthma
Mild persistent asthma
1 0 1 5.0E-02 0 0
CUI: C1969052
Disease: MECKEL SYNDROME, TYPE 5
MECKEL SYNDROME, TYPE 5
1 0 1 5.0E-02 0 0
CUI: C1969053
Disease: JOUBERT SYNDROME 7
JOUBERT SYNDROME 7
1 0 1 5.0E-02 0 0
CUI: C2675336
Disease: Duplication 15q11-q13 Syndrome
Duplication 15q11-q13 Syndrome
1 0 1 5.0E-02 0 0
CUI: C2750220
Disease: Karak Syndrome
Karak Syndrome
1 0 1 5.0E-02 0 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
1 65 1 5.0E-02 1 1.5E-02
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
1 0 1 5.0E-02 0 0
Early infantile epileptic encephalopathy, refractory
1 0 1 5.0E-02 0 0
CUI: C3538999
Disease: DYSTONIA 23
DYSTONIA 23
1 0 1 5.0E-02 0 0
PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT
1 0 1 5.0E-02 0 0
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
1 14 1 5.0E-02 1 6.2E-02
THYROTROPIN-RELEASING HORMONE DEFICIENCY
1 0 1 5.0E-02 0 0
CUI: C3888911
Disease: CYP2C19 poor metaboliser status
CYP2C19 poor metaboliser status
1 0 1 5.0E-02 0 0
CUI: C4022593
Disease: Tremor by anatomical site
Tremor by anatomical site
1 0 1 5.0E-02 0 0
CUI: C4022690
Disease: Neck muscle hypertrophy
Neck muscle hypertrophy
1 0 1 5.0E-02 0 0
CUI: C4022743
Disease: T2 hypointense basal ganglia
T2 hypointense basal ganglia
1 0 1 5.0E-02 0 0
CUI: C4022768
Disease: Cerebellar gliosis
Cerebellar gliosis
1 0 1 5.0E-02 0 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35
1 0 1 5.0E-02 0 0
CUI: C4476780
Disease: Reduced amygdala volume
Reduced amygdala volume
1 0 1 5.0E-02 0 0
Autosomal recessive spastic paraplegia type 67
1 0 1 5.0E-02 0 0