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: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 1 1.1E-02 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		45 0 1 2.2E-02 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 1 1.4E-02 0 0
CUI: C0278874
Disease: Adult Ependymoma
Adult Ependymoma 		144 0 1 6.9E-03 0 0
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		685 0 1 1.5E-03 0 0
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		112 0 1 8.9E-03 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 1 2.5E-03 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 1 9.3E-03 0 0
CUI: C0003578
Disease: Apnea
Apnea 		262 0 1 3.8E-03 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 1 1.2E-03 0 0
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		1758 0 1 5.7E-04 0 0
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		502 0 1 2.0E-03 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 1 1.7E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 1 1.7E-03 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 1 1.0E-02 0 0
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		1658 0 1 6.0E-04 0 0
CUI: C1851584
Disease: Childhood Ependymoma
Childhood Ependymoma 		147 0 1 6.8E-03 0 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 1 4.1E-03 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 1 6.5E-03 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 1 1.1E-02 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 1 6.8E-03 0 0
CUI: C0009806
Disease: Constipation
Constipation 		424 0 1 2.4E-03 0 0
CUI: C1531773
Disease: Currarino triad
Currarino triad 		7 0 1 0.14 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 1 1.8E-03 0 0
CUI: C0344315
Disease: Depressed mood
Depressed mood 		1461 0 1 6.8E-04 0 0