Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
19 0 7 0.33 0 0
Spastic paraplegia type 5A, recessive
13 0 5 0.29 0 0
CUI: C1142448
Disease: Apraxia of eyelid
Apraxia of eyelid
5 0 3 0.27 0 0
Spondyloepiphyseal dysplasia, Omani type
3 0 2 0.20 0 0
Spastic paraplegia 15, autosomal recessive
3 0 2 0.20 0 0
CUI: C4021076
Disease: Iron accumulation in brain
Iron accumulation in brain
3 0 2 0.20 0 0
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy
17 0 4 0.18 0 0
Neurodegeneration with brain iron accumulation (NBIA)
40 0 7 0.17 0 0
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder)
6 0 2 0.15 0 0
Complicated hereditary spastic paraplegia
16 0 3 0.14 0 0
CUI: C1853578
Disease: Neuroferritinopathy
Neuroferritinopathy
17 0 3 0.13 0 0
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome
9 0 2 0.12 0 0
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
9 0 2 0.12 0 0
Progressive extrapyramidal movement disorder
9 0 2 0.12 0 0
CUI: C0752205
Disease: Dystonia, Secondary
Dystonia, Secondary
10 0 2 0.12 0 0
CUI: C0752105
Disease: Parkinsonism, Juvenile
Parkinsonism, Juvenile
40 0 5 0.11 0 0
CUI: C0239957
Disease: Hip stiff
Hip stiff
1 0 1 0.11 0 0
CUI: C0393577
Disease: Pallidal degeneration
Pallidal degeneration
1 0 1 0.11 0 0
CUI: C1608971
Disease: Optic nerve pallor
Optic nerve pallor
1 0 1 0.11 0 0
CUI: C1843632
Disease: LEPROSY, SUSCEPTIBILITY TO, 2
LEPROSY, SUSCEPTIBILITY TO, 2
1 0 1 0.11 0 0
Parkinsonism with favorable response to dopaminergic medication
21 0 3 0.11 0 0
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME
11 0 2 0.11 0 0
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
1 0 1 0.11 0 0
CUI: C1865864
Disease: AMYOTROPHIC LATERAL SCLEROSIS 5
AMYOTROPHIC LATERAL SCLEROSIS 5
1 8 1 0.11 8 6.0E-02
CUI: C1868596
Disease: Atypical Parkinson Disease
Atypical Parkinson Disease
11 0 2 0.11 0 0