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: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		1 48 1 0.33 12 0.16
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11 		1 6 1 0.33 4 9.8E-02
CUI: C4017203
Disease: BARDET-BIEDL SYNDROME 14, MODIFIER OF
BARDET-BIEDL SYNDROME 14, MODIFIER OF 		1 0 1 0.33 0 0
CUI: C1854260
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder)
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		2 0 1 0.25 0 0
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 13 		2 0 1 0.25 0 0
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder) 		2 17 1 0.25 4 7.7E-02
CUI: C2713583
Disease: Congenital Tracheobronchomegaly
Congenital Tracheobronchomegaly 		2 0 1 0.25 0 0
CUI: C4025708
Disease: Cerebellar malformation
Cerebellar malformation 		2 3 1 0.25 2 5.0E-02
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		2 0 1 0.25 0 0
CUI: C0018987
Disease: Hemimelia
Hemimelia 		3 0 1 0.20 0 0
CUI: C1865794
Disease: RHYNS syndrome
RHYNS syndrome 		3 0 1 0.20 0 0
CUI: C3280766
Disease: JOUBERT SYNDROME 14
JOUBERT SYNDROME 14 		3 0 1 0.20 0 0
CUI: C0566693
Disease: Large placenta
Large placenta 		4 0 1 0.17 0 0
CUI: C0687149
Disease: Pure gonadal dysgenesis
Pure gonadal dysgenesis 		4 0 1 0.17 0 0
CUI: C1839860
Disease: Elevated amniotic fluid alpha-fetoprotein
Elevated amniotic fluid alpha-fetoprotein 		4 0 1 0.17 0 0
CUI: C1855335
Disease: Hypoplasia of the bladder
Hypoplasia of the bladder 		4 0 1 0.17 0 0
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		4 38 1 0.17 8 0.12
CUI: C1968618
Disease: Tubular basement membrane disintegration
Tubular basement membrane disintegration 		4 0 1 0.17 0 0
CUI: C2242796
Disease: Sickle cell-thalassemia disease
Sickle cell-thalassemia disease 		4 0 1 0.17 0 0
CUI: C2673885
Disease: Renal hepatic pancreatic dysplasia Dandy Walker cyst
Renal hepatic pancreatic dysplasia Dandy Walker cyst 		4 0 1 0.17 0 0
CUI: C4020922
Disease: Enlarged fossa interpeduncularis
Enlarged fossa interpeduncularis 		4 0 1 0.17 0 0
CUI: C4021756
Disease: Thickened superior cerebellar peduncle
Thickened superior cerebellar peduncle 		4 0 1 0.17 0 0
CUI: C4040907
Disease: Mosaic Turner syndrome
Mosaic Turner syndrome 		4 0 1 0.17 0 0
CUI: C1408258
Disease: Kidney damage
Kidney damage 		5 6 1 0.14 2 4.7E-02
CUI: C4274118
Disease: Joubert syndrome with ocular defect
Joubert syndrome with ocular defect 		5 0 1 0.14 0 0