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: C1846010
Disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME 		1 0 1 1.00 0 0
CUI: C2678015
Disease: Myopathy, Reducing Body, X-Linked, Childhood-Onset
Myopathy, Reducing Body, X-Linked, Childhood-Onset 		1 0 1 1.00 0 0
CUI: C2678027
Disease: Myopathy, Reducing Body, X-Linked, Early-Onset, Severe
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe 		1 0 1 1.00 0 0
CUI: C2749106
Disease: Emery-Dreifuss Muscular Dystrophy 6, X-Linked
Emery-Dreifuss Muscular Dystrophy 6, X-Linked 		1 2 1 1.00 1 8.3E-02
CUI: C4225159
Disease: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET
REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET 		1 0 1 1.00 0 0
CUI: C4225423
Disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET 		1 0 1 1.00 0 0
CUI: C1846011
Disease: Pugilistic facies
Pugilistic facies 		2 0 1 0.50 0 0
CUI: C1842161
Disease: Scapuloperoneal weakness
Scapuloperoneal weakness 		3 0 1 0.33 0 0
CUI: C2931268
Disease: Scapuloperoneal myopathy
Scapuloperoneal myopathy 		3 0 1 0.33 0 0
CUI: C0265910
Disease: Congenital hypoplasia of pulmonary artery
Congenital hypoplasia of pulmonary artery 		4 0 1 0.25 0 0
CUI: C1846013
Disease: Marked muscular hypertrophy
Marked muscular hypertrophy 		4 0 1 0.25 0 0
CUI: C0270970
Disease: Reducing-body myopathy
Reducing-body myopathy 		5 0 1 0.20 0 0
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency 		5 0 1 0.20 0 0
CUI: C4551514
Disease: Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytic Lymphohistiocytosis, Familial, 1 		5 0 1 0.20 0 0
CUI: C4022628
Disease: Absent muscle fiber emerin
Absent muscle fiber emerin 		6 0 1 0.17 0 0
CUI: C0232216
Disease: Ventricular escape rhythm
Ventricular escape rhythm 		7 0 1 0.14 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 1 0.14 0 0
CUI: C1843112
Disease: Broad nail
Broad nail 		9 0 1 0.11 0 0
CUI: C1846017
Disease: Progressive pes cavus
Progressive pes cavus 		9 0 1 0.11 0 0
CUI: C1857484
Disease: Brachyturricephaly
Brachyturricephaly 		9 0 1 0.11 0 0
CUI: C1866013
Disease: Proximal upper limb amyotrophy
Proximal upper limb amyotrophy 		9 0 1 0.11 0 0
CUI: C4021774
Disease: Camptodactyly of toe
Camptodactyly of toe 		9 0 1 0.11 0 0
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		10 0 1 1.0E-01 0 0
CUI: C0428975
Disease: Supraventricular Arrhythmia by ECG Finding
Supraventricular Arrhythmia by ECG Finding 		11 0 1 9.1E-02 0 0
CUI: C1849955
Disease: Limited elbow movement
Limited elbow movement 		13 0 1 7.7E-02 0 0