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: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		175 0 31 0.10 0 0
CUI: C3714745
Disease: Malabsorption
Malabsorption 		175 0 31 0.10 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 53 0.10 0 0
CUI: C1857656
Disease: Prematurely aged appearance
Prematurely aged appearance 		40 0 18 0.10 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 60 0.10 3 4.5E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 54 0.10 0 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 36 0.10 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 54 0.10 1 2.9E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 60 0.10 2 2.7E-02
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 35 0.10 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 42 0.10 1 3.7E-02
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 18 0.10 0 0
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		69 11 20 1.0E-01 1 6.2E-02
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 35 9.9E-02 0 0
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		105 0 23 9.8E-02 0 0
CUI: C0745730
Disease: Multiple lipomata
Multiple lipomata 		38 0 17 9.8E-02 0 0
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		106 0 23 9.8E-02 0 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 0 24 9.6E-02 0 0
CUI: C4025773
Disease: Aplasia/Hypoplasia involving the skeletal musculature
Aplasia/Hypoplasia involving the skeletal musculature 		19 0 15 9.6E-02 0 0
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		111 0 23 9.6E-02 0 0
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		55 0 18 9.5E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 64 9.5E-02 1 1.7E-02
CUI: C0035313
Disease: Retinal Dysplasia
Retinal Dysplasia 		34 0 16 9.4E-02 0 0
CUI: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus 		46 0 17 9.4E-02 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 28 9.3E-02 0 0