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: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		19 0 1 5.3E-02 0 0
CUI: C4025773
Disease: Aplasia/Hypoplasia involving the skeletal musculature
Aplasia/Hypoplasia involving the skeletal musculature 		19 0 1 5.3E-02 0 0
CUI: C4073168
Disease: Abnormal lactate dehydrogenase activity
Abnormal lactate dehydrogenase activity 		19 0 1 5.3E-02 0 0
CUI: C1879312
Disease: Agyria
Agyria 		20 0 1 5.0E-02 0 0
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		21 0 1 4.8E-02 0 0
CUI: C4024809
Disease: Chorioretinal dysplasia
Chorioretinal dysplasia 		21 0 1 4.8E-02 0 0
CUI: C0556280
Disease: Gross motor impairment
Gross motor impairment 		22 0 1 4.5E-02 0 0
CUI: C4082144
Disease: Metatarsal Valgus
Metatarsal Valgus 		22 0 1 4.5E-02 0 0
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		23 0 1 4.3E-02 0 0
CUI: C0521694
Disease: Atrophic retina
Atrophic retina 		24 0 1 4.2E-02 0 0
CUI: C1277709
Disease: Transferrin saturation measurement
Transferrin saturation measurement 		26 0 1 3.8E-02 0 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 1 3.6E-02 0 0
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons 		30 0 1 3.3E-02 0 0
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		31 0 1 3.2E-02 0 0
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles 		32 0 1 3.1E-02 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		33 0 1 3.0E-02 0 0
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		33 0 1 3.0E-02 0 0
CUI: C1261470
Disease: Congenital meningocele
Congenital meningocele 		33 0 1 3.0E-02 0 0
CUI: C0035313
Disease: Retinal Dysplasia
Retinal Dysplasia 		34 0 1 2.9E-02 0 0
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		35 0 1 2.9E-02 0 0
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		35 0 1 2.9E-02 0 0
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		37 0 1 2.7E-02 0 0
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		38 0 1 2.6E-02 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 1 2.4E-02 0 0
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		44 0 1 2.3E-02 0 0