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: C0220787
Disease: Endotracheal aspiration
Endotracheal aspiration 		13 0 13 0.72 0 0
CUI: C0700198
Disease: Pulmonary aspiration
Pulmonary aspiration 		13 0 13 0.72 0 0
CUI: C1963221
Disease: Aspiration, CTCAE
Aspiration, CTCAE 		13 0 13 0.72 0 0
CUI: C2827071
Disease: Unintentional Material Aspiration
Unintentional Material Aspiration 		13 0 13 0.72 0 0
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response 		18 0 4 0.12 0 0
CUI: C0234853
Disease: Facial grimacing
Facial grimacing 		10 0 3 0.12 0 0
CUI: C0343239
Disease: Benign congenital hypotonia
Benign congenital hypotonia 		11 0 3 0.12 0 0
CUI: C0396064
Disease: Bowing of vocal cord
Bowing of vocal cord 		2 0 2 0.11 0 0
CUI: C0748605
Disease: nocturnal seizures
nocturnal seizures 		2 0 2 0.11 0 0
CUI: C1848920
Disease: GM2-ganglioside accumulation
GM2-ganglioside accumulation 		2 0 2 0.11 0 0
CUI: C0393719
Disease: Nocturnal epilepsy
Nocturnal epilepsy 		4 0 2 1.0E-01 0 0
CUI: C0268275
Disease: Tay-Sachs Disease, AB Variant
Tay-Sachs Disease, AB Variant 		5 0 2 9.5E-02 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		6 0 2 9.1E-02 0 0
CUI: C1835614
Disease: Hereditary Hyperexplexia
Hereditary Hyperexplexia 		7 0 2 8.7E-02 0 0
CUI: C4021217
Disease: EEG with generalized slow activity
EEG with generalized slow activity 		8 6 2 8.3E-02 2 0.17
CUI: C1853486
Disease: Widow's peak
Widow's peak 		9 0 2 8.0E-02 0 0
CUI: C2216370
Disease: Cherry red spot of the macula
Cherry red spot of the macula 		9 0 2 8.0E-02 0 0
CUI: C4025750
Disease: Abnormality of the nasopharynx
Abnormality of the nasopharynx 		10 0 2 7.7E-02 0 0
CUI: C0266054
Disease: Premature tooth eruption
Premature tooth eruption 		12 0 2 7.1E-02 0 0
CUI: C1820737
Disease: Temperature instability
Temperature instability 		12 8 2 7.1E-02 4 0.33
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		27 0 3 7.1E-02 0 0
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
Nasogastric tube feeding in infancy 		12 9 2 7.1E-02 2 0.13
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		13 0 2 6.9E-02 0 0
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		13 0 2 6.9E-02 0 0
CUI: C1836842
Disease: Psychomotor deterioration
Psychomotor deterioration 		13 0 2 6.9E-02 0 0