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: C4551631
Disease: Cystic liver disease
Cystic liver disease 		19 0 7 0.17 0 0
CUI: C4023916
Disease: Aplasia/Hypoplasia of the tongue
Aplasia/Hypoplasia of the tongue 		19 0 6 0.14 0 0
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		11 0 5 0.14 0 0
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		38 0 8 0.13 0 0
CUI: C0311245
Disease: Congenital cystic kidney disease
Congenital cystic kidney disease 		31 0 7 0.13 0 0
CUI: C1610065
Disease: Urethral atresia
Urethral atresia 		23 0 6 0.13 0 0
CUI: C0266631
Disease: Accessory spleen
Accessory spleen 		41 0 8 0.13 0 0
CUI: C3805083
Disease: Portal fibrosis
Portal fibrosis 		15 0 5 0.12 0 0
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
Hepatic Fibrosis, Congenital 		63 0 10 0.12 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		26 0 6 0.12 0 0
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder) 		27 0 6 0.12 0 0
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		53 0 8 0.11 0 0
CUI: C0221365
Disease: Double ureter
Double ureter 		34 0 6 0.10 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 6 0.10 0 0
CUI: C0040412
Disease: Fissured tongue
Fissured tongue 		36 0 6 1.0E-01 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 6 1.0E-01 0 0
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		37 0 6 9.8E-02 0 0
CUI: C0030283
Disease: Pancreatic Cyst
Pancreatic Cyst 		60 0 8 9.8E-02 0 0
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1 		49 0 7 9.7E-02 0 0
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		4 0 3 9.7E-02 0 0
CUI: C4021756
Disease: Thickened superior cerebellar peduncle
Thickened superior cerebellar peduncle 		4 0 3 9.7E-02 0 0
CUI: C3806216
Disease: Neonatal breathing dysregulation
Neonatal breathing dysregulation 		5 0 3 9.4E-02 0 0
CUI: C1853235
Disease: Sclerocornea
Sclerocornea 		42 0 6 9.1E-02 0 0
CUI: C4024644
Disease: Multiple small medullary renal cysts
Multiple small medullary renal cysts 		6 0 3 9.1E-02 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 5 8.9E-02 0 0