Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
1 0 1 0.50 0 0
Distal muscle atrophy due to neurologic disease
1 0 1 0.50 0 0
Normal serum phytanic and pristanic acid
1 0 1 0.50 0 0
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
1 0 1 0.50 0 0
CUI: C0342704
Disease: Deficiency of Cobalamin G
Deficiency of Cobalamin G
3 0 1 0.25 0 0
CUI: C0041782
Disease: Deficiency anemias
Deficiency anemias
5 0 1 0.17 0 0
CUI: C1848556
Disease: Decreased adenosylcobalamin
Decreased adenosylcobalamin
7 0 1 0.12 0 0
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex
10 0 1 9.1E-02 0 0
CUI: C1955603
Disease: Deaf-Blind Disorders
Deaf-Blind Disorders
11 0 1 8.3E-02 0 0
CUI: C3806347
Disease: Hyperhomocystinemia
Hyperhomocystinemia
11 0 1 8.3E-02 0 0
CUI: C0231471
Disease: Abnormal posture
Abnormal posture
13 0 1 7.1E-02 0 0
CUI: C1568248
Disease: Usher Syndrome, Type III
Usher Syndrome, Type III
13 0 1 7.1E-02 0 0
CUI: C1842138
Disease: Progressive hearing impairment
Progressive hearing impairment
14 0 1 6.7E-02 0 0
CUI: C0302254
Disease: Juvenile cataract
Juvenile cataract
16 0 1 5.9E-02 0 0
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract
17 0 1 5.6E-02 0 0
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus
19 0 1 5.0E-02 0 0
CUI: C4551520
Disease: Intention tremor
Intention tremor
20 0 1 4.8E-02 0 0
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency
29 0 1 3.3E-02 0 0
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy
29 0 1 3.3E-02 0 0
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles
32 0 1 3.0E-02 0 0
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria
33 0 1 2.9E-02 0 0
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
35 0 1 2.8E-02 0 0
CUI: C1527231
Disease: Adrenomyeloneuropathy
Adrenomyeloneuropathy
38 0 1 2.6E-02 0 0
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
39 0 1 2.5E-02 0 0
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement
42 0 1 2.3E-02 0 0