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: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		109 0 30 0.11 0 0
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		60 0 25 0.11 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 50 0.11 0 0
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		64 0 25 0.11 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 86 0.10 2 2.0E-02
CUI: C1849089
Disease: Broad forehead
Broad forehead 		133 0 31 0.10 0 0
CUI: C1384606
Disease: Dyspareunia
Dyspareunia 		37 0 22 0.10 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 58 0.10 0 0
CUI: C4025821
Disease: Anterior hypopituitarism
Anterior hypopituitarism 		48 0 23 0.10 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 55 0.10 0 0
CUI: C0266013
Disease: Congenital hypoplasia of breast
Congenital hypoplasia of breast 		38 0 22 0.10 0 0
CUI: C0454455
Disease: Mirror movements disorder
Mirror movements disorder 		39 0 22 0.10 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 97 0.10 4 2.8E-02
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		95 0 27 0.10 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 89 0.10 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 89 0.10 0 0
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		406 0 55 0.10 0 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 43 35 1.0E-01 1 1.8E-02
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 39 9.8E-02 0 0
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		148 0 31 9.8E-02 0 0
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		137 0 30 9.8E-02 0 0
CUI: C0030486
Disease: Paraplegia
Paraplegia 		59 0 23 9.8E-02 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 40 9.8E-02 0 0
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		175 0 33 9.7E-02 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 55 9.7E-02 2 2.0E-02