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: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		129 0 10 4.5E-02 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 22 4.5E-02 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 7 4.5E-02 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 23 4.4E-02 2 2.7E-03
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 0 18 4.4E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 45 4.4E-02 2 2.8E-03
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 9 4.3E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 34 4.3E-02 4 1.9E-02
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		89 0 8 4.3E-02 0 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 6 4.3E-02 1 5.4E-03
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		67 0 7 4.3E-02 0 0
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		92 14 8 4.3E-02 1 6.9E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 0 19 4.3E-02 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 13 4.2E-02 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 13 4.2E-02 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 13 4.1E-02 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 0 9 4.1E-02 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 0 13 4.1E-02 0 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 0 9 4.1E-02 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 13 4.1E-02 1 6.4E-03
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 0 11 4.0E-02 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 19 4.0E-02 1 5.6E-03
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 0 17 4.0E-02 0 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		79 0 7 4.0E-02 0 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		106 0 8 4.0E-02 0 0