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: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		20 33 10 0.19 1 2.0E-02
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		10 74 7 0.15 11 0.14
CUI: C4022628
Disease: Absent muscle fiber emerin
Absent muscle fiber emerin 		6 0 6 0.14 0 0
CUI: C1836767
Disease: Proximal lower limb amyotrophy
Proximal lower limb amyotrophy 		15 0 7 0.13 0 0
CUI: C0232216
Disease: Ventricular escape rhythm
Ventricular escape rhythm 		7 0 6 0.13 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 6 0.13 0 0
CUI: C1866013
Disease: Proximal upper limb amyotrophy
Proximal upper limb amyotrophy 		9 0 6 0.13 0 0
CUI: C0428975
Disease: Supraventricular Arrhythmia by ECG Finding
Supraventricular Arrhythmia by ECG Finding 		11 0 6 0.12 0 0
CUI: C1866010
Disease: Proximal muscle weakness in lower limbs
Proximal muscle weakness in lower limbs 		30 0 8 0.12 0 0
CUI: C1866012
Disease: Proximal muscle weakness in upper limbs
Proximal muscle weakness in upper limbs 		22 0 7 0.12 0 0
CUI: C1450051
Disease: Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 		5 2 5 0.11 2 0.11
CUI: C4023180
Disease: Type 1 muscle fiber atrophy
Type 1 muscle fiber atrophy 		16 0 6 0.11 0 0
CUI: C0027125
Disease: Myotonia
Myotonia 		19 0 6 0.11 0 0
CUI: C0428974
Disease: Supraventricular arrhythmia
Supraventricular arrhythmia 		19 0 6 0.11 0 0
CUI: C0549399
Disease: Low density lipoprotein increased
Low density lipoprotein increased 		23 0 6 9.8E-02 0 0
CUI: C0155016
Disease: Color Blindness, Red-Green
Color Blindness, Red-Green 		24 0 6 9.7E-02 0 0
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy 		28 0 6 9.1E-02 0 0
CUI: C0152438
Disease: Sprengel deformity
Sprengel deformity 		29 0 6 9.0E-02 0 0
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		17 16 5 8.9E-02 2 6.2E-02
CUI: C1719497
Disease: Localized chronic periodontitis
Localized chronic periodontitis 		6 0 4 8.7E-02 0 0
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles 		32 0 6 8.6E-02 0 0
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 0 9 8.3E-02 0 0
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		50 0 7 8.0E-02 0 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 7 7.6E-02 0 0
CUI: C0042928
Disease: Vocal Cord Paralysis
Vocal Cord Paralysis 		42 0 6 7.5E-02 0 0