Source: BEFREE ×
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: C1848200
Disease: SUBCORTICAL BAND HETEROTOPIA, X-LINKED
SUBCORTICAL BAND HETEROTOPIA, X-LINKED 		9 0 9 0.39 0 0
CUI: C4021028
Disease: Pseudo-fractures
Pseudo-fractures 		8 0 8 0.35 0 0
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		9 0 8 0.33 0 0
CUI: C0205823
Disease: Pleomorphic Lipoma
Pleomorphic Lipoma 		11 0 8 0.31 0 0
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		12 0 8 0.30 0 0
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		14 0 8 0.28 0 0
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS 		24 0 9 0.24 0 0
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis 		19 0 8 0.24 0 0
CUI: C0005398
Disease: Cholestasis, Extrahepatic
Cholestasis, Extrahepatic 		26 0 8 0.20 0 0
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		26 0 8 0.20 0 0
CUI: C0151798
Disease: Hepatic necrosis
Hepatic necrosis 		40 0 9 0.17 0 0
CUI: C1281373
Disease: Intercritical gout
Intercritical gout 		6 0 4 0.16 0 0
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		36 0 8 0.16 0 0
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		51 0 9 0.14 0 0
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		46 0 8 0.13 0 0
CUI: C0520739
Disease: Hereditary pyropoikilocytosis
Hereditary pyropoikilocytosis 		47 0 8 0.13 0 0
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		12 0 4 0.13 0 0
CUI: C0521175
Disease: Neuropil Threads
Neuropil Threads 		13 0 4 0.12 0 0
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated 		51 0 8 0.12 0 0
CUI: C1321546
Disease: Anaplastic large B-cell lymphoma
Anaplastic large B-cell lymphoma 		17 0 4 0.11 0 0
CUI: C0276623
Disease: Chronic viral hepatitis
Chronic viral hepatitis 		59 0 8 0.11 0 0
CUI: C0451641
Disease: Urolithiasis
Urolithiasis 		59 0 8 0.11 0 0
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		72 0 9 0.10 0 0
CUI: C0151825
Disease: Bone pain
Bone pain 		75 0 9 0.10 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		56 0 7 9.7E-02 0 0