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: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		1 0 1 0.50 0 0
CUI: C3809272
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5
LETHAL CONGENITAL CONTRACTURE SYNDROME 5 		1 0 1 0.50 0 0
CUI: C4025214
Disease: Sleepy facial expression
Sleepy facial expression 		3 0 1 0.25 0 0
CUI: C1854454
Disease: Axonal regeneration
Axonal regeneration 		5 0 1 0.17 0 0
CUI: C0410204
Disease: Myopathy, Centronuclear, Autosomal Recessive
Myopathy, Centronuclear, Autosomal Recessive 		6 0 1 0.14 0 0
CUI: C0579144
Disease: Cavovarus deformity of foot
Cavovarus deformity of foot 		6 0 1 0.14 0 0
CUI: C1833219
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) 		6 0 1 0.14 0 0
CUI: C0231531
Disease: Muscle fibrillation
Muscle fibrillation 		8 0 1 0.11 0 0
CUI: C4025785
Disease: Abnormality of the foot musculature
Abnormality of the foot musculature 		8 0 1 0.11 0 0
CUI: C4025830
Disease: Peripheral axonal degeneration
Peripheral axonal degeneration 		9 0 1 1.0E-01 0 0
CUI: C1836599
Disease: Macrocephaly at birth
Macrocephaly at birth 		12 0 1 7.7E-02 0 0
CUI: C3661489
Disease: Autosomal Dominant Myotubular Myopathy
Autosomal Dominant Myotubular Myopathy 		13 0 1 7.1E-02 0 0
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		13 0 1 7.1E-02 0 0
CUI: C2932678
Disease: Inherited Peripheral Neuropathy
Inherited Peripheral Neuropathy 		14 0 1 6.7E-02 0 0
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		16 0 1 5.9E-02 0 0
CUI: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Centronuclear, Autosomal Dominant 		16 0 1 5.9E-02 0 0
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		16 0 1 5.9E-02 0 0
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		16 0 1 5.9E-02 0 0
CUI: C1837496
Disease: Axonal degeneration
Axonal degeneration 		17 0 1 5.6E-02 0 0
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy 		18 0 1 5.3E-02 0 0
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		19 0 1 5.0E-02 0 0
CUI: C0271682
Disease: Mixed sensory-motor polyneuropathy
Mixed sensory-motor polyneuropathy 		20 0 1 4.8E-02 0 0
CUI: C1843077
Disease: Segmental peripheral demyelination/remyelination
Segmental peripheral demyelination/remyelination 		21 0 1 4.5E-02 0 0
CUI: C1866012
Disease: Proximal muscle weakness in upper limbs
Proximal muscle weakness in upper limbs 		22 0 1 4.3E-02 0 0
CUI: C1856694
Disease: Areflexia of lower limbs
Areflexia of lower limbs 		24 0 1 4.0E-02 0 0