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: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		12 76 10 0.34 15 0.17
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		9 57 9 0.33 13 0.18
CUI: C1848200
Disease: SUBCORTICAL BAND HETEROTOPIA, X-LINKED
SUBCORTICAL BAND HETEROTOPIA, X-LINKED 		10 0 8 0.28 0 0
CUI: C4021028
Disease: Pseudo-fractures
Pseudo-fractures 		10 0 8 0.28 0 0
CUI: C0205823
Disease: Pleomorphic Lipoma
Pleomorphic Lipoma 		13 0 8 0.25 0 0
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS 		24 0 10 0.24 0 0
CUI: C0520739
Disease: Hereditary pyropoikilocytosis
Hereditary pyropoikilocytosis 		47 23 13 0.21 6 0.13
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		30 0 8 0.16 0 0
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis 		35 0 8 0.15 0 0
CUI: C1864723
Disease: Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		5 0 4 0.14 0 0
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		46 0 9 0.14 0 0
CUI: C0270733
Disease: Striatonigral Degeneration
Striatonigral Degeneration 		7 0 4 0.13 0 0
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		16 0 5 0.13 0 0
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		43 0 8 0.13 0 0
CUI: C1839264
Disease: SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		8 0 4 0.13 0 0
CUI: C0151798
Disease: Hepatic necrosis
Hepatic necrosis 		44 0 8 0.13 0 0
CUI: C0751604
Disease: Hereditary X-Linked Recessive Spastic Paraplegia
Hereditary X-Linked Recessive Spastic Paraplegia 		10 0 4 0.12 0 0
CUI: C4274084
Disease: Pelizaeus Merzbacher like disease
Pelizaeus Merzbacher like disease 		10 0 4 0.12 0 0
CUI: C0443306
Disease: Spastic
Spastic 		13 0 4 0.11 0 0
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated 		54 0 8 0.11 0 0
CUI: C0151846
Disease: Periosteal Disorder
Periosteal Disorder 		80 0 10 0.10 0 0
CUI: C0276623
Disease: Chronic viral hepatitis
Chronic viral hepatitis 		59 0 8 0.10 0 0
CUI: C0451641
Disease: Urolithiasis
Urolithiasis 		72 0 9 1.0E-01 0 0
CUI: C0234119
Disease: Neuromuscular inhibition
Neuromuscular inhibition 		72 0 8 8.8E-02 0 0
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		86 0 9 8.7E-02 0 0