Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0233480
Disease: Hyperirritability
Hyperirritability
1 0 1 0.11 0 0
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
1 0 1 0.11 0 0
URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
1 0 1 0.11 0 0
CUI: C1853701
Disease: Muscle hyperirritability
Muscle hyperirritability
1 0 1 0.11 0 0
Spastic Paraplegia 42, Autosomal Dominant
1 0 1 0.11 0 0
Myopathy, Reducing Body, X-Linked, Childhood-Onset
1 0 1 0.11 0 0
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe
1 0 1 0.11 0 0
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
1 0 1 0.11 0 0
Emery-Dreifuss Muscular Dystrophy 6, X-Linked
1 0 1 0.11 0 0
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
1 0 1 0.11 0 0
RIPPLING MUSCLE DISEASE 2, AUTOSOMAL RECESSIVE
1 0 1 0.11 0 0
Abnormal lower-limb motor evoked potentials
1 0 1 0.11 0 0
REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET
1 0 1 0.11 0 0
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3
1 0 1 0.11 0 0
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
1 0 1 0.11 0 0
SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT
1 0 1 0.11 0 0
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET
1 0 1 0.11 0 0
CUI: C4310658
Disease: MYOCLONUS, INTRACTABLE, NEONATAL
MYOCLONUS, INTRACTABLE, NEONATAL
1 0 1 0.11 0 0
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
1 0 1 0.11 0 0
CUI: C4551776
Disease: RITSCHER-SCHINZEL SYNDROME 1
RITSCHER-SCHINZEL SYNDROME 1
1 0 1 0.11 0 0
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25
1 0 1 0.11 0 0
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
1 0 1 0.11 0 0
CUI: C4732774
Disease: Spastic paraparetic gait
Spastic paraparetic gait
1 0 1 0.11 0 0
Rippling muscle disease with myasthenia gravis
1 0 1 0.11 0 0
Isolated asymptomatic elevation of creatine phosphokinase
1 0 1 0.11 0 0