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: C4021539
Disease: Posterior helix pit
Posterior helix pit 		9 0 8 0.35 0 0
CUI: C1851720
Disease: Adrenocortical cytomegaly
Adrenocortical cytomegaly 		6 0 6 0.27 0 0
CUI: C1851722
Disease: Overgrowth of external genitalia
Overgrowth of external genitalia 		6 0 6 0.27 0 0
CUI: C1851733
Disease: Pancreatic hyperplasia
Pancreatic hyperplasia 		6 0 6 0.27 0 0
CUI: C1969144
Disease: Renal cortical cysts
Renal cortical cysts 		14 0 6 0.20 0 0
CUI: C0542518
Disease: Enlarged kidney
Enlarged kidney 		27 0 8 0.20 0 0
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		23 0 6 0.15 0 0
CUI: C3152182
Disease: Anterior chamber anomalies
Anterior chamber anomalies 		18 0 5 0.14 0 0
CUI: C2986703
Disease: Overgrowth Syndrome
Overgrowth Syndrome 		36 0 7 0.14 0 0
CUI: C4303860
Disease: Craniofacial ulnar renal syndrome
Craniofacial ulnar renal syndrome 		3 0 3 0.14 0 0
CUI: C0796032
Disease: Malpuech facial clefting syndrome
Malpuech facial clefting syndrome 		4 0 3 0.13 0 0
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		39 2 7 0.13 1 0.50
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		24 0 5 0.12 0 0
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma 		34 0 6 0.12 0 0
CUI: C3277117
Disease: Caudal appendage
Caudal appendage 		6 0 3 0.12 0 0
CUI: C4022490
Disease: Prominent coccyx
Prominent coccyx 		6 0 3 0.12 0 0
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		64 0 9 0.12 0 0
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		55 0 8 0.12 0 0
CUI: C1861331
Disease: Limited pronation/supination of forearm
Limited pronation/supination of forearm 		7 0 3 0.12 0 0
CUI: C3536797
Disease: Ichthyosis Congenita II
Ichthyosis Congenita II 		7 0 3 0.12 0 0
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		85 0 11 0.11 0 0
CUI: C0266011
Disease: Accessory nipple
Accessory nipple 		38 0 6 0.11 0 0
CUI: C1303003
Disease: Epicanthus inversus
Epicanthus inversus 		9 0 3 0.11 0 0
CUI: C1866241
Disease: Broad foot
Broad foot 		30 0 5 0.11 0 0
CUI: C4551838
Disease: Talipes transversoplanus
Talipes transversoplanus 		30 0 5 0.11 0 0