Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Charcot-Marie-Tooth disease, Type 2A
7 0 2 0.12 0 0
CUI: C4721916
Disease: HMSN Type V
HMSN Type V
7 0 2 0.12 0 0
Distal Hereditary Motor Neuropathy, Type II
8 0 2 0.11 0 0
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb
29 0 4 0.11 0 0
Congenital Generalized Lipodystrophy Type 2
9 30 2 0.11 2 4.5E-02
CUI: C1850386
Disease: GIANT AXONAL NEUROPATHY 1
GIANT AXONAL NEUROPATHY 1
9 0 2 0.11 0 0
CUI: C4021523
Disease: Upper limb amyotrophy
Upper limb amyotrophy
9 0 2 0.11 0 0
Partial Paralysis (Paresis) Vocal Cords
10 0 2 1.0E-01 0 0
CUI: C1389118
Disease: Peroneal muscle atrophy
Peroneal muscle atrophy
10 0 2 1.0E-01 0 0
Familial Partial Lipodystrophy, Type 3
10 0 2 1.0E-01 0 0
Congenital hypomyelinating neuropathy
11 0 2 9.5E-02 0 0
CUI: C0750403
Disease: Proximal weakness
Proximal weakness
11 0 2 9.5E-02 0 0
Hereditary liability to pressure palsies
23 0 3 9.4E-02 0 0
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy
59 0 6 9.2E-02 0 0
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
49 15 5 8.9E-02 2 6.9E-02
CUI: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness
49 0 5 8.9E-02 0 0
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet
26 0 3 8.6E-02 0 0
CUI: C0239831
Disease: Hand muscle weakness
Hand muscle weakness
14 0 2 8.3E-02 0 0
Hereditary Autosomal Dominant Spastic Paraplegia
27 0 3 8.3E-02 0 0
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
1 0 1 8.3E-02 0 0
CUI: C1845095
Disease: DEAFNESS, X-LINKED 5 (disorder)
DEAFNESS, X-LINKED 5 (disorder)
1 0 1 8.3E-02 0 0
Charcot-Marie-Tooth Disease, Axonal, Type 2a1
1 0 1 8.3E-02 0 0
Leukoencephalopathy With Metaphyseal Chondrodysplasia
1 0 1 8.3E-02 0 0
CUI: C1970887
Disease: Abnormal middle ear reflexes
Abnormal middle ear reflexes
1 0 1 8.3E-02 0 0
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
1 0 1 8.3E-02 0 0