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: C0584837
Disease: Choanal stenosis
Choanal stenosis 		14 0 4 9.1E-02 0 0
CUI: C4023440
Disease: Cleft earlobe
Cleft earlobe 		3 0 3 8.8E-02 0 0
CUI: C4024888
Disease: Asymmetric, linear skin defects
Asymmetric, linear skin defects 		3 0 3 8.8E-02 0 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		79 0 9 8.7E-02 0 0
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		67 0 8 8.6E-02 0 0
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised 		55 0 7 8.5E-02 0 0
CUI: C0265886
Disease: Overriding aorta
Overriding aorta 		17 0 4 8.5E-02 0 0
CUI: C0014588
Disease: Epispadias
Epispadias 		30 0 5 8.5E-02 0 0
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum 		30 0 5 8.5E-02 0 0
CUI: C0235812
Disease: Vitritis
Vitritis 		5 0 3 8.3E-02 0 0
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		57 0 7 8.3E-02 0 0
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		58 0 7 8.2E-02 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 9 13 8.1E-02 1 7.7E-02
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		73 0 8 8.1E-02 0 0
CUI: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple 		33 0 5 8.1E-02 0 0
CUI: C0239479
Disease: Round face
Round face 		88 0 9 8.0E-02 0 0
CUI: C4551490
Disease: Ovotestis
Ovotestis 		8 0 3 7.7E-02 0 0
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		67 0 7 7.4E-02 0 0
CUI: C4025360
Disease: Functional motor deficit
Functional motor deficit 		10 0 3 7.3E-02 0 0
CUI: C4025750
Disease: Abnormality of the nasopharynx
Abnormality of the nasopharynx 		10 0 3 7.3E-02 0 0
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		69 0 7 7.3E-02 0 0
CUI: C0395837
Disease: Stenosis of external auditory canal
Stenosis of external auditory canal 		25 0 4 7.3E-02 0 0
CUI: C0426807
Disease: Short clavicle
Short clavicle 		26 0 4 7.1E-02 0 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		71 0 7 7.1E-02 0 0
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		87 0 8 7.1E-02 0 0