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: C4274118
Disease: Joubert syndrome with ocular defect
Joubert syndrome with ocular defect 		5 0 5 0.17 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 15 0.13 0 0
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		26 0 6 0.12 0 0
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology 		28 0 6 0.12 0 0
CUI: C1167664
Disease: Situs ambiguous
Situs ambiguous 		9 0 4 0.11 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 6 0.11 0 0
CUI: C0027443
Disease: Natal Teeth
Natal Teeth 		22 2 5 0.11 1 0.14
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 6 0.10 0 0
CUI: C0566693
Disease: Large placenta
Large placenta 		4 0 3 9.7E-02 0 0
CUI: C1846438
Disease: Hypoplastic facial bones
Hypoplastic facial bones 		6 0 3 9.1E-02 0 0
CUI: C3810214
Disease: Elongated superior cerebellar peduncle
Elongated superior cerebellar peduncle 		7 0 3 8.8E-02 0 0
CUI: C0344760
Disease: Congenital atresia of mitral valve
Congenital atresia of mitral valve 		8 0 3 8.6E-02 0 0
CUI: C1837761
Disease: Narrow nasal ridge
Narrow nasal ridge 		11 0 3 7.9E-02 0 0
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		39 0 5 7.8E-02 0 0
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		55 0 6 7.6E-02 0 0
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		55 0 6 7.6E-02 0 0
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		57 0 6 7.4E-02 0 0
CUI: C0235357
Disease: Hypoplasia of teeth
Hypoplasia of teeth 		14 0 3 7.3E-02 0 0
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		58 0 6 7.3E-02 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 8 7.2E-02 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 7 7.1E-02 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 6 7.1E-02 0 0
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		61 0 6 7.1E-02 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 6 7.1E-02 0 0
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		16 0 3 7.0E-02 0 0