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: C0231255
Disease: Decreased body mass index
Decreased body mass index 		3 3 2 0.14 3 0.15
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		20 3 4 0.14 2 9.5E-02
CUI: C0426440
Disease: Large nostrils
Large nostrils 		4 2 2 0.13 2 1.0E-01
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		6 0 2 0.12 0 0
CUI: C4021168
Disease: Slender toe
Slender toe 		6 2 2 0.12 1 4.8E-02
CUI: C0424304
Disease: Inappropriate laughter
Inappropriate laughter 		7 0 2 0.11 0 0
CUI: C4024167
Disease: Abnormality of the antitragus
Abnormality of the antitragus 		7 0 2 0.11 0 0
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		18 11 3 0.11 4 0.15
CUI: C4021637
Disease: Abnormality of the nares
Abnormality of the nares 		8 2 2 0.11 2 1.0E-01
CUI: C4021770
Disease: Clinodactyly of toe
Clinodactyly of toe 		8 2 2 0.11 2 1.0E-01
CUI: C4021798
Disease: Impaired use of nonverbal behaviors
Impaired use of nonverbal behaviors 		8 5 2 0.11 1 4.2E-02
CUI: C4023014
Disease: Stereotypical hand wringing
Stereotypical hand wringing 		8 0 2 0.11 0 0
CUI: C1303003
Disease: Epicanthus inversus
Epicanthus inversus 		9 0 2 1.0E-01 0 0
CUI: C1867114
Disease: Craniofacial disproportion
Craniofacial disproportion 		9 5 2 1.0E-01 3 0.14
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		9 0 2 1.0E-01 0 0
CUI: C4023338
Disease: Profound sensorineural hearing impairment
Profound sensorineural hearing impairment 		10 2 2 9.5E-02 2 1.0E-01
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 3 9.4E-02 4 9.3E-02
CUI: C0343239
Disease: Benign congenital hypotonia
Benign congenital hypotonia 		11 0 2 9.1E-02 0 0
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		11 0 2 9.1E-02 0 0
CUI: C3808046
Disease: Breathing dysregulation
Breathing dysregulation 		12 8 2 8.7E-02 2 7.7E-02
CUI: C0020039
Disease: Hostility
Hostility 		1 0 1 7.7E-02 0 0
CUI: C0021355
Disease: Infective otitis externa
Infective otitis externa 		1 0 1 7.7E-02 0 0
CUI: C0021712
Disease: Myoclonus, Intention
Myoclonus, Intention 		1 0 1 7.7E-02 0 0
CUI: C0026210
Disease: Mirror Writing
Mirror Writing 		1 0 1 7.7E-02 0 0
CUI: C0030214
Disease: Myoclonus, Palatal
Myoclonus, Palatal 		1 0 1 7.7E-02 0 0