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: C4303860
Disease: Craniofacial ulnar renal syndrome
Craniofacial ulnar renal syndrome 		3 0 3 0.17 0 0
CUI: C0796032
Disease: Malpuech facial clefting syndrome
Malpuech facial clefting syndrome 		4 0 3 0.16 0 0
CUI: C0344539
Disease: Hypoplasia of iris
Hypoplasia of iris 		19 0 5 0.16 0 0
CUI: C4023327
Disease: Central opacification of the cornea
Central opacification of the cornea 		5 0 3 0.15 0 0
CUI: C4477011
Disease: Thinning of Descemet membrane
Thinning of Descemet membrane 		5 0 3 0.15 0 0
CUI: C3495489
Disease: Rieger eye malformation sequence
Rieger eye malformation sequence 		13 0 4 0.15 0 0
CUI: C0036305
Disease: Schamberg Disease
Schamberg Disease 		6 0 3 0.14 0 0
CUI: C0221766
Disease: Diastasis recti
Diastasis recti 		22 0 5 0.14 0 0
CUI: C0311237
Disease: Goniodysgenesis
Goniodysgenesis 		6 0 3 0.14 0 0
CUI: C3277117
Disease: Caudal appendage
Caudal appendage 		6 0 3 0.14 0 0
CUI: C4022490
Disease: Prominent coccyx
Prominent coccyx 		6 0 3 0.14 0 0
CUI: C3711383
Disease: Early-Onset Glaucoma
Early-Onset Glaucoma 		15 0 4 0.14 0 0
CUI: C0152252
Disease: Anterior synechiae
Anterior synechiae 		7 0 3 0.14 0 0
CUI: C0266548
Disease: Axenfeld anomaly (disorder)
Axenfeld anomaly (disorder) 		7 0 3 0.14 0 0
CUI: C1860344
Disease: Hypoplastic iris stroma
Hypoplastic iris stroma 		7 0 3 0.14 0 0
CUI: C1861331
Disease: Limited pronation/supination of forearm
Limited pronation/supination of forearm 		7 0 3 0.14 0 0
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		7 0 3 0.14 0 0
CUI: C4085595
Disease: AL-RAQAD SYNDROME
AL-RAQAD SYNDROME 		17 0 4 0.13 0 0
CUI: C1303003
Disease: Epicanthus inversus
Epicanthus inversus 		9 0 3 0.12 0 0
CUI: C4048228
Disease: Congenital anomaly of anterior segment of eye
Congenital anomaly of anterior segment of eye 		9 0 3 0.12 0 0
CUI: C0796059
Disease: Oculopalatoskeletal syndrome
Oculopalatoskeletal syndrome 		2 0 2 0.11 0 0
CUI: C3275963
Disease: Abnormal iris vasculature
Abnormal iris vasculature 		2 0 2 0.11 0 0
CUI: C0265341
Disease: Rieger syndrome
Rieger syndrome 		23 0 4 0.11 0 0
CUI: C3808403
Disease: Large fleshy ears
Large fleshy ears 		13 0 3 0.11 0 0
CUI: C0311251
Disease: Simple buphthalmos
Simple buphthalmos 		3 0 2 0.11 0 0