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: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		73 0 8 7.3E-02 0 0
CUI: C0267926
Disease: Postoperative biliary stricture
Postoperative biliary stricture 		3 0 3 6.8E-02 0 0
CUI: C1835384
Disease: Loss of truncal subcutaneous adipose tissue
Loss of truncal subcutaneous adipose tissue 		3 0 3 6.8E-02 0 0
CUI: C0346169
Disease: Ovarian Cystadenoma
Ovarian Cystadenoma 		4 0 3 6.7E-02 0 0
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		118 0 10 6.6E-02 0 0
CUI: C4551514
Disease: Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytic Lymphohistiocytosis, Familial, 1 		5 0 3 6.5E-02 0 0
CUI: C0595939
Disease: Stillbirth
Stillbirth 		23 0 4 6.3E-02 0 0
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		59 0 6 6.2E-02 0 0
CUI: C1719498
Disease: Generalized chronic periodontitis
Generalized chronic periodontitis 		25 0 4 6.2E-02 0 0
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		61 0 6 6.1E-02 0 0
CUI: C0004245
Disease: Atrioventricular Block
Atrioventricular Block 		63 0 6 5.9E-02 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 0 6 5.9E-02 0 0
CUI: C0033300
Disease: Progeria
Progeria 		118 41 9 5.9E-02 6 0.11
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		28 16 4 5.9E-02 4 0.13
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		10 0 3 5.9E-02 0 0
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		29 0 4 5.8E-02 0 0
CUI: C0423808
Disease: Brachyonychia
Brachyonychia 		11 0 3 5.8E-02 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 7 5.7E-02 0 0
CUI: C0701818
Disease: Choledocholithiasis
Choledocholithiasis 		12 0 3 5.7E-02 0 0
CUI: C3826394
Disease: Epilepsy in children
Epilepsy in children 		12 0 3 5.7E-02 0 0
CUI: C4275079
Disease: Posterior cortical atrophy syndrome
Posterior cortical atrophy syndrome 		12 0 3 5.7E-02 0 0
CUI: C0004604
Disease: Back Pain
Back Pain 		110 0 8 5.5E-02 0 0
CUI: C1833325
Disease: Thin bony cortex
Thin bony cortex 		14 0 3 5.5E-02 0 0
CUI: C1857710
Disease: Progeroid facial appearance
Progeroid facial appearance 		14 0 3 5.5E-02 0 0
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy 		14 11 3 5.5E-02 2 7.4E-02