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: C4025732
Disease: Tubulointerstitial abnormality
Tubulointerstitial abnormality 		23 0 14 0.11 0 0
CUI: C0234428
Disease: Disturbance of consciousness
Disturbance of consciousness 		35 0 15 0.11 0 0
CUI: C1857287
Disease: Stroke-like episode
Stroke-like episode 		27 0 14 0.11 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 40 0.11 0 0
CUI: C0745730
Disease: Multiple lipomata
Multiple lipomata 		38 0 15 0.11 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 29 0.11 0 0
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		80 0 19 0.11 0 0
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		30 0 14 0.11 0 0
CUI: C0338614
Disease: Psychotic episodes
Psychotic episodes 		31 0 14 0.11 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 26 0.11 0 0
CUI: C1697453
Disease: Spontaneous hematomas
Spontaneous hematomas 		33 0 14 0.11 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 31 0.10 0 0
CUI: C4022012
Disease: Death in early adulthood
Death in early adulthood 		46 0 15 0.10 0 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		123 0 22 0.10 0 0
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		48 0 15 0.10 0 0
CUI: C0009024
Disease: Clonus
Clonus 		60 0 16 0.10 0 0
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia 		29 0 13 0.10 0 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		117 0 21 0.10 0 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		86 0 18 9.9E-02 0 0
CUI: C0424448
Disease: Mask-like facies
Mask-like facies 		64 0 16 9.9E-02 0 0
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		121 0 21 9.9E-02 0 0
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		43 0 14 9.9E-02 0 0
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		100 0 19 9.8E-02 0 0
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		103 0 19 9.6E-02 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 27 9.6E-02 0 0