Source: ALL
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: C3277187
Disease: Type 2 muscle fiber predominance
Type 2 muscle fiber predominance 		1 0 1 1.00 0 0
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		1 20 1 1.00 2 8.0E-02
CUI: C4022667
Disease: Small toe
Small toe 		1 0 1 1.00 0 0
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 		2 9 1 0.50 4 0.33
CUI: C4024170
Disease: Localized hirsutism
Localized hirsutism 		2 0 1 0.50 0 0
CUI: C1837407
Disease: Ankle contracture
Ankle contracture 		3 3 1 0.33 1 0.11
CUI: C4023375
Disease: Tibialis atrophy
Tibialis atrophy 		3 1 1 0.33 1 0.14
CUI: C0850705
Disease: Adult Acquired Toxoplasmosis
Adult Acquired Toxoplasmosis 		4 0 1 0.25 0 0
CUI: C2931358
Disease: Muscular atrophy, spinal, infantile chronic form
Muscular atrophy, spinal, infantile chronic form 		4 0 1 0.25 0 0
CUI: C0558844
Disease: Knee reflex absent
Knee reflex absent 		5 2 1 0.20 1 0.12
CUI: C0795825
Disease: Chromosome 8, trisomy 8p
Chromosome 8, trisomy 8p 		5 0 1 0.20 0 0
CUI: C0019555
Disease: Hip Dislocation, Congenital
Hip Dislocation, Congenital 		6 0 1 0.17 0 0
CUI: C0393538
Disease: Muscular Atrophy, Spinal, Type II
Muscular Atrophy, Spinal, Type II 		6 0 1 0.17 0 0
CUI: C0700595
Disease: Spinal Muscular Atrophies of Childhood
Spinal Muscular Atrophies of Childhood 		6 0 1 0.17 0 0
CUI: C4750288
Disease: Spinal muscular atrophy with lower extremity predominance
Spinal muscular atrophy with lower extremity predominance 		6 0 1 0.17 0 0
CUI: C0521659
Disease: Motor Neuron Disease, Upper
Motor Neuron Disease, Upper 		7 0 1 0.14 0 0
CUI: C4022737
Disease: Neurodevelopmental abnormality
Neurodevelopmental abnormality 		7 19 1 0.14 1 4.0E-02
CUI: C3277184
Disease: Decreased patellar reflex
Decreased patellar reflex 		8 0 1 0.12 0 0
CUI: C1841984
Disease: GLOMUVENOUS MALFORMATIONS
GLOMUVENOUS MALFORMATIONS 		13 0 1 7.7E-02 0 0
CUI: C0152109
Disease: Juvenile Spinal Muscular Atrophy
Juvenile Spinal Muscular Atrophy 		14 0 1 7.1E-02 0 0
CUI: C1836609
Disease: Progressive distal muscle weakness
Progressive distal muscle weakness 		14 4 1 7.1E-02 1 1.0E-01
CUI: C2932678
Disease: Inherited Peripheral Neuropathy
Inherited Peripheral Neuropathy 		14 0 1 7.1E-02 0 0
CUI: C1836767
Disease: Proximal lower limb amyotrophy
Proximal lower limb amyotrophy 		15 0 1 6.7E-02 0 0
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
Distal Spinal Muscular Atrophy 		16 0 1 6.2E-02 0 0
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		19 0 1 5.3E-02 0 0