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: C0233565
Disease: Bradykinesia
Bradykinesia 		133 0 1 3.0E-03 0 0
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		131 0 1 3.0E-03 0 0
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		131 0 1 3.0E-03 0 0
CUI: C0021359
Disease: Infertility
Infertility 		130 0 1 3.0E-03 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 1 3.0E-03 0 0
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		129 0 1 3.0E-03 0 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		129 0 1 3.0E-03 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 1 3.0E-03 0 0
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		127 0 1 3.1E-03 0 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 0 1 3.1E-03 0 0
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		121 0 1 3.1E-03 0 0
CUI: C0162701
Disease: Polysomnography
Polysomnography 		119 0 1 3.1E-03 0 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		118 0 1 3.2E-03 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 1 3.2E-03 0 0
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		117 0 1 3.2E-03 0 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		117 0 1 3.2E-03 0 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		117 0 1 3.2E-03 0 0
CUI: C0576226
Disease: Short foot
Short foot 		116 0 1 3.2E-03 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 1 3.2E-03 0 0
CUI: C0575802
Disease: Small hand
Small hand 		108 0 1 3.3E-03 0 0
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		106 0 1 3.3E-03 0 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		106 0 1 3.3E-03 0 0
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		104 0 1 3.3E-03 0 0
CUI: C0600260
Disease: Lung Diseases, Obstructive
Lung Diseases, Obstructive 		104 0 1 3.3E-03 0 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 0 1 3.3E-03 0 0