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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 9 1.9E-02 2 3.0E-03
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		512 509 17 3.1E-02 1 1.8E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 4 1.4E-02 2 5.1E-03
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		2 265 2 4.3E-02 16 5.5E-02
CUI: C0026848
Disease: Myopathy
Myopathy 		634 166 33 5.1E-02 1 4.8E-03
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		44 110 13 0.17 1 6.6E-03
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 87 26 4.7E-02 4 3.2E-02
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		360 56 4 9.9E-03 1 1.0E-02
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		60 52 2 1.9E-02 1 1.1E-02
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		171 50 18 9.0E-02 1 1.1E-02
CUI: C0030552
Disease: Paresis
Paresis 		216 49 16 6.5E-02 4 4.6E-02
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		33 49 15 0.23 2 2.2E-02
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		2 48 2 4.3E-02 1 1.1E-02
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		4 30 1 2.0E-02 1 1.4E-02
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		51 22 1 1.0E-02 1 1.6E-02
CUI: C3809209
Disease: NEMALINE MYOPATHY 8
NEMALINE MYOPATHY 8 		1 14 1 2.1E-02 1 1.8E-02
CUI: C0020625
Disease: Hyponatremia
Hyponatremia 		109 11 2 1.3E-02 1 1.9E-02
CUI: C0220662
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1
ARTHROGRYPOSIS, DISTAL, TYPE 1 		9 10 2 3.7E-02 1 2.0E-02
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 10 23 0.26 1 2.0E-02
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		1 10 1 2.1E-02 2 4.0E-02
CUI: C1836447
Disease: Nemaline myopathy 4
Nemaline myopathy 4 		1 9 1 2.1E-02 2 4.1E-02
CUI: C3810384
Disease: NEMALINE MYOPATHY 9
NEMALINE MYOPATHY 9 		1 7 1 2.1E-02 1 2.1E-02
CUI: C1836472
Disease: Nemaline myopathy 6
Nemaline myopathy 6 		1 5 1 2.1E-02 1 2.2E-02
CUI: C1854380
Disease: NEMALINE MYOPATHY 5
NEMALINE MYOPATHY 5 		2 4 2 4.3E-02 1 2.2E-02
CUI: C3710589
Disease: Cap Myopathy
Cap Myopathy 		9 4 7 0.14 2 4.5E-02