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: C4023478
Disease: EEG with focal sharp waves
EEG with focal sharp waves 		3 0 2 0.11 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		6 0 2 9.5E-02 0 0
CUI: C4023476
Disease: EEG with generalized epileptiform discharges
EEG with generalized epileptiform discharges 		6 4 2 9.5E-02 1 9.1E-02
CUI: C1302995
Disease: Congenital Fibrosis of the Extraocular Muscles
Congenital Fibrosis of the Extraocular Muscles 		13 0 2 7.1E-02 0 0
CUI: C1848980
Disease: Developmental stagnation
Developmental stagnation 		14 0 2 6.9E-02 0 0
CUI: C2938912
Disease: Hyperintensity of cerebral white matter on MRI
Hyperintensity of cerebral white matter on MRI 		15 0 2 6.7E-02 0 0
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		51 0 4 6.2E-02 0 0
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response 		18 4 2 6.1E-02 1 9.1E-02
CUI: C0152091
Disease: Osteochondropathy
Osteochondropathy 		1 0 1 5.9E-02 0 0
CUI: C0234175
Disease: Palmar reflex
Palmar reflex 		1 0 1 5.9E-02 0 0
CUI: C0234435
Disease: Syncope, Tussive
Syncope, Tussive 		1 0 1 5.9E-02 0 0
CUI: C0234516
Disease: Speech dysfunction
Speech dysfunction 		1 0 1 5.9E-02 0 0
CUI: C0271616
Disease: Precocious female puberty
Precocious female puberty 		1 0 1 5.9E-02 0 0
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		19 0 2 5.9E-02 0 0
CUI: C0432125
Disease: Bicoronal craniosynostosis
Bicoronal craniosynostosis 		1 0 1 5.9E-02 0 0
CUI: C1300256
Disease: Thanatophoric dysplasia, type 1
Thanatophoric dysplasia, type 1 		1 0 1 5.9E-02 0 0
CUI: C1840365
Disease: King Denborough syndrome
King Denborough syndrome 		1 0 1 5.9E-02 0 0
CUI: C1851087
Disease: Agenesis of the anterior commissure
Agenesis of the anterior commissure 		1 0 1 5.9E-02 0 0
CUI: C1851152
Disease: SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS
SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS 		1 0 1 5.9E-02 0 0
CUI: C1861213
Disease: Wide-cupped costochondral junctions
Wide-cupped costochondral junctions 		1 0 1 5.9E-02 0 0
CUI: C1861753
Disease: Multiminicore Disease, Moderate, with Hand Involvement
Multiminicore Disease, Moderate, with Hand Involvement 		1 0 1 5.9E-02 0 0
CUI: C1863423
Disease: Lumbar kyphosis in infancy
Lumbar kyphosis in infancy 		1 0 1 5.9E-02 0 0
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		1 10 1 5.9E-02 1 5.9E-02
CUI: C1864854
Disease: Broad femoral metaphyses
Broad femoral metaphyses 		1 0 1 5.9E-02 0 0
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		1 0 1 5.9E-02 0 0