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: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		0 16 0 0 1 1.7E-02
CUI: C1444844
Disease: Juvenile idiopathic arthritis, enthesitis related arthritis
Juvenile idiopathic arthritis, enthesitis related arthritis 		0 1 0 0 1 2.3E-02
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 0 1 1.9E-03 0 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 1 2.0E-03 0 0
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		131 0 1 2.0E-03 0 0
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		127 0 1 2.0E-03 0 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 0 1 2.0E-03 0 0
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		109 0 1 2.1E-03 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 2.1E-03 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 1 2.1E-03 0 0
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		89 0 1 2.2E-03 0 0
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		89 0 1 2.2E-03 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 1 2.2E-03 0 0
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		87 0 1 2.2E-03 0 0
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		87 0 1 2.2E-03 0 0
CUI: C0231835
Disease: Tachypnea
Tachypnea 		82 0 1 2.2E-03 0 0
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		82 0 1 2.2E-03 0 0
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		80 0 1 2.2E-03 0 0
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		80 0 1 2.2E-03 0 0
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia 		80 0 1 2.2E-03 0 0
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		78 0 1 2.2E-03 0 0
CUI: C0202202
Disease: Protein measurement
Protein measurement 		75 0 1 2.2E-03 0 0
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		75 0 1 2.2E-03 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 0 1 2.2E-03 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 1 2.3E-03 0 0