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: C0406726
Disease: Orofaciodigital syndrome 3
Orofaciodigital syndrome 3 		1 0 1 0.33 0 0
CUI: C3554235
Disease: JOUBERT SYNDROME 20
JOUBERT SYNDROME 20 		1 0 1 0.33 0 0
CUI: C3809352
Disease: MECKEL SYNDROME, TYPE 11
MECKEL SYNDROME, TYPE 11 		1 0 1 0.33 0 0
CUI: C4022882
Disease: Suprasellar arachnoid cyst
Suprasellar arachnoid cyst 		1 0 1 0.33 0 0
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		11 0 3 0.27 0 0
CUI: C0344243
Disease: See-Saw Nystagmus
See-Saw Nystagmus 		2 0 1 0.25 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: C2713583
Disease: Congenital Tracheobronchomegaly
Congenital Tracheobronchomegaly 		2 0 1 0.25 0 0
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		2 0 1 0.25 0 0
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		3 0 1 0.20 0 0
CUI: C1846790
Disease: JOUBERT SYNDROME 4 (disorder)
JOUBERT SYNDROME 4 (disorder) 		3 0 1 0.20 0 0
CUI: C4551850
Disease: Eyelid myoclonias
Eyelid myoclonias 		3 0 1 0.20 0 0
CUI: C0566693
Disease: Large placenta
Large placenta 		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: C1260922
Disease: Abnormal breathing
Abnormal breathing 		5 0 1 0.14 0 0
CUI: C3554721
Disease: Morning glory anomaly
Morning glory anomaly 		5 0 1 0.14 0 0
CUI: C4274118
Disease: Joubert syndrome with ocular defect
Joubert syndrome with ocular defect 		5 0 1 0.14 0 0
CUI: C0431564
Disease: Lobulated tongue
Lobulated tongue 		14 0 2 0.13 0 0
CUI: C1856765
Disease: Irregular dentition
Irregular dentition 		6 0 1 0.12 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		26 0 3 0.12 0 0
CUI: C0269209
Disease: Hydrometrocolpos
Hydrometrocolpos 		7 0 1 0.11 0 0
CUI: C1855331
Disease: Olfactory lobe agenesis
Olfactory lobe agenesis 		7 0 1 0.11 0 0
CUI: C4023916
Disease: Aplasia/Hypoplasia of the tongue
Aplasia/Hypoplasia of the tongue 		19 0 2 1.0E-01 0 0