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: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 1 1.5E-03 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 1 1.6E-03 0 0
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		129 0 1 1.6E-03 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 0 1 1.6E-03 0 0
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		123 0 1 1.6E-03 0 0
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		120 0 1 1.6E-03 0 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 1 1.7E-03 0 0
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		104 0 1 1.7E-03 0 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 0 1 1.7E-03 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 1 1.7E-03 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 1 1.7E-03 0 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		97 0 1 1.7E-03 0 0
CUI: C0009398
Disease: Color vision defect
Color vision defect 		94 0 1 1.7E-03 0 0
CUI: C1837463
Disease: Narrow face
Narrow face 		87 0 1 1.7E-03 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 1 1.7E-03 0 0
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		83 0 1 1.8E-03 0 0
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 1 1.8E-03 0 0
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		82 0 1 1.8E-03 0 0
CUI: C0015310
Disease: Exotropia
Exotropia 		78 0 1 1.8E-03 0 0
CUI: C0221217
Disease: Neck webbing
Neck webbing 		78 0 1 1.8E-03 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 0 1 1.8E-03 0 0
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		75 0 1 1.8E-03 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 0 1 1.8E-03 0 0
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		74 0 1 1.8E-03 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 1 1.8E-03 0 0