Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Generalized tonic-clonic seizures with focal onset
23 0 1 3.2E-04 0 0
CUI: C1846347
Disease: Renal salt wasting
Renal salt wasting
22 0 1 3.2E-04 0 0
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome
21 0 1 3.2E-04 0 0
CUI: C0237849
Disease: Peeling of skin
Peeling of skin
21 0 1 3.2E-04 0 0
CUI: C1838114
Disease: Generalized limb muscle atrophy
Generalized limb muscle atrophy
21 0 1 3.2E-04 0 0
Parkinsonism with favorable response to dopaminergic medication
21 0 1 3.2E-04 0 0
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
20 0 1 3.2E-04 0 0
CUI: C0241700
Disease: Voice Fatigue
Voice Fatigue
20 0 1 3.2E-04 0 0
CUI: C4551520
Disease: Intention tremor
Intention tremor
20 0 1 3.2E-04 0 0
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes
19 0 1 3.2E-04 0 0
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity
19 0 1 3.2E-04 0 0
CUI: C1969156
Disease: EEG with burst suppression
EEG with burst suppression
19 0 1 3.2E-04 0 0
CUI: C4023916
Disease: Aplasia/Hypoplasia of the tongue
Aplasia/Hypoplasia of the tongue
19 0 1 3.2E-04 0 0
Dehydroepiandrosterone sulfate measurement (procedure)
18 0 1 3.2E-04 0 0
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal
18 0 1 3.2E-04 0 0
CUI: C0431565
Disease: Hamartoma of tongue
Hamartoma of tongue
18 0 1 3.2E-04 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality
18 0 1 3.2E-04 0 0
CUI: C4023499
Disease: Generalized clonic seizures
Generalized clonic seizures
18 0 1 3.2E-04 0 0
CUI: C0023067
Disease: Laryngitis
Laryngitis
17 0 1 3.2E-04 0 0
CUI: C0595948
Disease: Atypical absence seizure
Atypical absence seizure
17 0 1 3.2E-04 0 0
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I
17 0 1 3.2E-04 0 0
Placental Steroid Sulfatase Deficiency
17 0 1 3.2E-04 0 0
CUI: C3671887
Disease: Hypernatriuria
Hypernatriuria
17 0 1 3.2E-04 0 0
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability
16 0 1 3.2E-04 0 0
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy
16 0 1 3.2E-04 0 0