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: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		53 0 13 6.2E-02 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 31 6.1E-02 0 0
CUI: C0001403
Disease: Addison Disease
Addison Disease 		111 0 16 6.0E-02 0 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		95 0 15 6.0E-02 0 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		151 0 18 5.9E-02 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 66 5.9E-02 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 58 5.9E-02 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 33 5.9E-02 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 28 5.9E-02 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 0 33 5.9E-02 0 0
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		121 0 16 5.8E-02 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 20 5.8E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 15 5.8E-02 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 32 5.8E-02 0 0
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		253 0 23 5.7E-02 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 19 5.7E-02 0 0
CUI: C1862265
Disease: Increased circulating gonadotropin level
Increased circulating gonadotropin level 		34 0 11 5.7E-02 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 32 5.6E-02 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 0 37 5.6E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 40 5.6E-02 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 34 5.5E-02 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 31 5.5E-02 0 0
CUI: C0085605
Disease: Liver Failure
Liver Failure 		293 0 24 5.5E-02 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 67 5.4E-02 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 0 19 5.4E-02 0 0