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: C1969052
Disease: MECKEL SYNDROME, TYPE 5
MECKEL SYNDROME, TYPE 5 		1 3 1 1.00 2 8.3E-02
CUI: C1846790
Disease: JOUBERT SYNDROME 4 (disorder)
JOUBERT SYNDROME 4 (disorder) 		3 0 1 0.33 0 0
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		4 38 1 0.25 4 7.0E-02
CUI: C1855677
Disease: Brainstem dysplasia
Brainstem dysplasia 		5 0 1 0.20 0 0
CUI: C3806216
Disease: Neonatal breathing dysregulation
Neonatal breathing dysregulation 		5 0 1 0.20 0 0
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: C0235081
Disease: Tremor, Limb
Tremor, Limb 		20 0 1 5.0E-02 0 0
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		20 0 1 5.0E-02 0 0
CUI: C0239882
Disease: Head tremor
Head tremor 		21 0 1 4.8E-02 0 0
CUI: C1610065
Disease: Urethral atresia
Urethral atresia 		23 0 1 4.3E-02 0 0
CUI: C2936476
Disease: Chronic Liver Failure
Chronic Liver Failure 		25 0 1 4.0E-02 0 0
CUI: C0040963
Disease: Tricuspid Valve Stenosis
Tricuspid Valve Stenosis 		26 0 1 3.8E-02 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		26 105 1 3.8E-02 3 2.4E-02
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: 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: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		30 0 1 3.3E-02 0 0
CUI: C0311245
Disease: Congenital cystic kidney disease
Congenital cystic kidney disease 		31 0 1 3.2E-02 0 0