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: C4023916
Disease: Aplasia/Hypoplasia of the tongue
Aplasia/Hypoplasia of the tongue 		19 0 15 0.50 0 0
CUI: C4551631
Disease: Cystic liver disease
Cystic liver disease 		19 0 15 0.50 0 0
CUI: C1610065
Disease: Urethral atresia
Urethral atresia 		23 0 15 0.44 0 0
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder) 		27 0 15 0.39 0 0
CUI: C0221365
Disease: Double ureter
Double ureter 		34 0 15 0.33 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 15 0.33 0 0
CUI: C0040412
Disease: Fissured tongue
Fissured tongue 		36 0 15 0.32 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 15 0.32 0 0
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		37 0 15 0.31 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		33 9 14 0.31 6 5.6E-02
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		38 0 15 0.31 0 0
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		53 38 18 0.30 6 4.4E-02
CUI: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly 		45 0 16 0.29 0 0
CUI: C0266631
Disease: Accessory spleen
Accessory spleen 		41 0 15 0.29 0 0
CUI: C1853235
Disease: Sclerocornea
Sclerocornea 		42 0 15 0.28 0 0
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		11 0 8 0.28 0 0
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1 		49 0 15 0.25 0 0
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		50 0 15 0.25 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 11 0.24 0 0
CUI: C4024748
Disease: Aplasia/Hypoplasia of the iris
Aplasia/Hypoplasia of the iris 		52 0 15 0.24 0 0
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		26 31 10 0.24 3 2.3E-02
CUI: C0002902
Disease: Anencephaly
Anencephaly 		59 0 16 0.23 0 0
CUI: C0030283
Disease: Pancreatic Cyst
Pancreatic Cyst 		60 0 15 0.21 0 0
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
Hepatic Fibrosis, Congenital 		63 0 15 0.20 0 0
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		63 0 15 0.20 0 0