Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Hemolytic anemia due to hexokinase deficiency
1 0 1 0.14 0 0
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
1 24 1 0.14 1 2.4E-02
Neuropathy, hereditary motor and sensory, Russe type
1 0 1 0.14 0 0
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
1 0 1 0.14 0 0
CUI: C3277187
Disease: Type 2 muscle fiber predominance
Type 2 muscle fiber predominance
1 0 1 0.14 0 0
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
1 7 1 0.14 1 4.0E-02
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
1 3 1 0.14 1 4.8E-02
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
1 0 1 0.14 0 0
CUI: C4022667
Disease: Small toe
Small toe
1 0 1 0.14 0 0
CUI: C4225205
Disease: SPINOCEREBELLAR ATAXIA 42
SPINOCEREBELLAR ATAXIA 42
1 0 1 0.14 0 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
1 12 1 0.14 1 3.3E-02
CUI: C4324277
Disease: Myokymia of eyelid
Myokymia of eyelid
1 0 1 0.14 0 0
CUI: C4479526
Disease: RETINITIS PIGMENTOSA 79
RETINITIS PIGMENTOSA 79
1 0 1 0.14 0 0
SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS
1 0 1 0.14 0 0
CUI: C0265646
Disease: Talipes Calcaneovarus
Talipes Calcaneovarus
2 0 1 0.12 0 0
CUI: C0398563
Disease: Deficiency of hexokinase (disorder)
Deficiency of hexokinase (disorder)
2 0 1 0.12 0 0
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
2 9 1 0.12 1 3.7E-02
CUI: C4024170
Disease: Localized hirsutism
Localized hirsutism
2 0 1 0.12 0 0
CUI: C1837407
Disease: Ankle contracture
Ankle contracture
3 3 1 0.11 1 4.8E-02
CUI: C4023375
Disease: Tibialis atrophy
Tibialis atrophy
3 1 1 0.11 1 5.3E-02
CUI: C2932678
Disease: Inherited Peripheral Neuropathy
Inherited Peripheral Neuropathy
14 0 2 0.11 0 0
CUI: C0850705
Disease: Adult Acquired Toxoplasmosis
Adult Acquired Toxoplasmosis
4 0 1 1.0E-01 0 0
CUI: C1845250
Disease: Small forehead
Small forehead
4 0 1 1.0E-01 0 0
Muscular atrophy, spinal, infantile chronic form
4 0 1 1.0E-01 0 0
CUI: C0558844
Disease: Knee reflex absent
Knee reflex absent
5 2 1 9.1E-02 1 5.0E-02