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: C1450051
Disease: Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 		5 2 5 0.50 1 1.3E-02
CUI: C4022628
Disease: Absent muscle fiber emerin
Absent muscle fiber emerin 		6 0 5 0.45 0 0
CUI: C0232216
Disease: Ventricular escape rhythm
Ventricular escape rhythm 		7 0 5 0.42 0 0
CUI: C1839653
Disease: Decreased cervical spine flexion due to contractures of posterior cervical muscles
Decreased cervical spine flexion due to contractures of posterior cervical muscles 		7 0 5 0.42 0 0
CUI: C0428975
Disease: Supraventricular Arrhythmia by ECG Finding
Supraventricular Arrhythmia by ECG Finding 		11 0 6 0.40 0 0
CUI: C1866013
Disease: Proximal upper limb amyotrophy
Proximal upper limb amyotrophy 		9 0 5 0.36 0 0
CUI: C0428974
Disease: Supraventricular arrhythmia
Supraventricular arrhythmia 		19 0 6 0.26 0 0
CUI: C1836767
Disease: Proximal lower limb amyotrophy
Proximal lower limb amyotrophy 		15 0 5 0.25 0 0
CUI: C4023180
Disease: Type 1 muscle fiber atrophy
Type 1 muscle fiber atrophy 		16 0 5 0.24 0 0
CUI: C0027125
Disease: Myotonia
Myotonia 		19 0 5 0.21 0 0
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		20 0 5 0.20 0 0
CUI: C1866012
Disease: Proximal muscle weakness in upper limbs
Proximal muscle weakness in upper limbs 		22 0 5 0.19 0 0
CUI: C1834653
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder) 		3 6 2 0.18 6 8.1E-02
CUI: C0549399
Disease: Low density lipoprotein increased
Low density lipoprotein increased 		23 0 5 0.18 0 0
CUI: C3148763
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E 		4 0 2 0.17 0 0
CUI: C4551514
Disease: Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytic Lymphohistiocytosis, Familial, 1 		5 0 2 0.15 0 0
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy 		28 0 5 0.15 0 0
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		44 18 7 0.15 11 0.14
CUI: C0152438
Disease: Sprengel deformity
Sprengel deformity 		29 0 5 0.15 0 0
CUI: C1866010
Disease: Proximal muscle weakness in lower limbs
Proximal muscle weakness in lower limbs 		30 0 5 0.14 0 0
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles 		32 0 5 0.14 0 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 7 0.12 0 0
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		9 0 2 0.12 0 0
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		29 0 4 0.11 0 0
CUI: C0264789
Disease: Familial cardiomyopathy
Familial cardiomyopathy 		10 0 2 0.11 0 0