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: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 1 2.2E-03 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 0 1 2.2E-03 0 0
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		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: C0265529
Disease: Plagiocephaly
Plagiocephaly 		74 0 1 2.2E-03 0 0
CUI: C1301937
Disease: Talipes
Talipes 		74 0 1 2.2E-03 0 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		73 0 1 2.2E-03 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 1 2.2E-03 0 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		71 0 1 2.2E-03 0 0
CUI: C0426415
Disease: Large nose
Large nose 		70 0 1 2.2E-03 0 0
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis 		69 0 1 2.2E-03 0 0
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		69 0 1 2.2E-03 0 0
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		68 0 1 2.2E-03 0 0
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		68 0 1 2.2E-03 0 0
CUI: C0562350
Disease: Hip circumference
Hip circumference 		68 0 1 2.2E-03 0 0
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		67 0 1 2.3E-03 0 0
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		67 0 1 2.3E-03 0 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		67 0 1 2.3E-03 0 0
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		66 0 1 2.3E-03 0 0
CUI: C0376705
Disease: Viral Load result
Viral Load result 		65 0 1 2.3E-03 0 0
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 0 1 2.3E-03 0 0
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		63 0 1 2.3E-03 0 0
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris 		63 0 1 2.3E-03 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 0 1 2.3E-03 0 0
CUI: C0231687
Disease: Spastic gait
Spastic gait 		62 0 1 2.3E-03 0 0