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: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder) 		1 24 1 1.00 11 0.17
CUI: C3280898
Disease: JOUBERT SYNDROME 9/15, DIGENIC
JOUBERT SYNDROME 9/15, DIGENIC 		2 2 1 0.50 1 2.0E-02
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		4 38 1 0.25 7 8.6E-02
CUI: C4024644
Disease: Multiple small medullary renal cysts
Multiple small medullary renal cysts 		6 0 1 0.17 0 0
CUI: C0175692
Disease: Johanson-Blizzard syndrome
Johanson-Blizzard syndrome 		7 0 1 0.14 0 0
CUI: C1855284
Disease: Intrahepatic biliary atresia
Intrahepatic biliary atresia 		9 0 1 0.11 0 0
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		11 0 1 9.1E-02 0 0
CUI: C4020869
Disease: Abnormality of abdomen morphology
Abnormality of abdomen morphology 		17 0 1 5.9E-02 0 0
CUI: C4023916
Disease: Aplasia/Hypoplasia of the tongue
Aplasia/Hypoplasia of the tongue 		19 0 1 5.3E-02 0 0
CUI: C4551631
Disease: Cystic liver disease
Cystic liver disease 		19 0 1 5.3E-02 0 0
CUI: C0302129
Disease: Achromatopsia 1
Achromatopsia 1 		20 0 1 5.0E-02 0 0
CUI: C1610065
Disease: Urethral atresia
Urethral atresia 		23 0 1 4.3E-02 0 0
CUI: C4551722
Disease: Encephalocele
Encephalocele 		23 7 1 4.3E-02 1 1.8E-02
CUI: C2936476
Disease: Chronic Liver Failure
Chronic Liver Failure 		25 0 1 4.0E-02 0 0
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		26 0 1 3.8E-02 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		26 105 1 3.8E-02 9 6.2E-02
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		26 0 1 3.8E-02 0 0
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder) 		27 0 1 3.7E-02 0 0
CUI: C0795841
Disease: Jacobsen Distal 11q Deletion Syndrome
Jacobsen Distal 11q Deletion Syndrome 		28 0 1 3.6E-02 0 0
CUI: C1853444
Disease: Heterotaxy, Visceral, 3, Autosomal
Heterotaxy, Visceral, 3, Autosomal 		29 0 1 3.4E-02 0 0
CUI: C3151057
Disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL
HETEROTAXY, VISCERAL, 4, AUTOSOMAL 		29 0 1 3.4E-02 0 0
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		30 0 1 3.3E-02 0 0
CUI: C0267818
Disease: Bile duct proliferation
Bile duct proliferation 		30 0 1 3.3E-02 0 0
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		30 0 1 3.3E-02 0 0
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		30 0 1 3.3E-02 0 0