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: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		271 0 1 1.8E-03 0 0
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		234 0 1 1.9E-03 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 1 2.0E-03 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 0 1 2.1E-03 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 1 2.2E-03 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 0 1 2.2E-03 0 0
CUI: C0005938
Disease: Bone Density
Bone Density 		138 0 1 2.3E-03 0 0
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		137 0 1 2.3E-03 0 0
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		136 0 1 2.3E-03 0 0
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		133 0 1 2.3E-03 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 1 2.3E-03 0 0
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		127 0 1 2.4E-03 0 0
CUI: C0030232
Disease: Pallor
Pallor 		124 0 1 2.4E-03 0 0
CUI: C0013222
Disease: Drug Use Disorders
Drug Use Disorders 		121 0 1 2.4E-03 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 1 2.4E-03 0 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 1 2.4E-03 0 0
CUI: C0029231
Disease: Organic Mental Disorders, Substance-Induced
Organic Mental Disorders, Substance-Induced 		115 0 1 2.4E-03 0 0
CUI: C4316881
Disease: Prescription Drug Abuse
Prescription Drug Abuse 		115 0 1 2.4E-03 0 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 1 2.5E-03 0 0
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		112 0 1 2.5E-03 0 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		106 0 1 2.5E-03 0 0
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		105 0 1 2.5E-03 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 0 1 2.5E-03 0 0
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 0 1 2.5E-03 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 1 2.5E-03 0 0