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: C0426961
Disease: Dystonic posture
Dystonic posture
2 1 2 0.20 1 0.17
CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION
2 2 2 0.20 1 0.14
CUI: C1968949
Disease: Cakut
Cakut
4 5 2 0.17 1 1.0E-01
CUI: C1835570
Disease: Hypoplastic cervical vertebrae
Hypoplastic cervical vertebrae
5 1 2 0.15 1 0.17
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna
18 0 3 0.12 0 0
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex
10 13 2 0.11 1 5.6E-02
CUI: C1850630
Disease: Broad distal phalanx of finger
Broad distal phalanx of finger
10 0 2 0.11 0 0
CUI: C0023075
Disease: Laryngostenosis
Laryngostenosis
11 0 2 0.11 0 0
CUI: C0240701
Disease: Small penis
Small penis
11 0 2 0.11 0 0
CUI: C0241210
Disease: Speech Delay
Speech Delay
11 8 2 0.11 1 7.7E-02
CUI: C1842155
Disease: Flat capital femoral epiphysis
Flat capital femoral epiphysis
11 0 2 0.11 0 0
CUI: C0025467
Disease: Mesenteric Cyst
Mesenteric Cyst
1 2 1 1.0E-01 2 0.33
CUI: C0175778
Disease: Larsen syndrome
Larsen syndrome
1 0 1 1.0E-01 0 0
CUI: C0206619
Disease: Lymphatic Vessel Tumors
Lymphatic Vessel Tumors
1 2 1 1.0E-01 2 0.33
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome
1 0 1 1.0E-01 0 0
CUI: C0265669
Disease: Congenital dislocation of knee
Congenital dislocation of knee
1 0 1 1.0E-01 0 0
CUI: C0432201
Disease: Boomerang dysplasia
Boomerang dysplasia
1 0 1 1.0E-01 0 0
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
1 6 1 1.0E-01 1 9.1E-02
Disorganization of the anterior cerebellar vermis
1 0 1 1.0E-01 0 0
CUI: C1849079
Disease: Lumbar interpedicular narrowing
Lumbar interpedicular narrowing
1 0 1 1.0E-01 0 0
CUI: C1851095
Disease: Lumbosacral hirsutism
Lumbosacral hirsutism
1 0 1 1.0E-01 0 0
CUI: C1862415
Disease: Cervical segmentation defect
Cervical segmentation defect
1 0 1 1.0E-01 0 0
CUI: C1862420
Disease: Tombstone-shaped proximal phalanges
Tombstone-shaped proximal phalanges
1 0 1 1.0E-01 0 0
CUI: C1862421
Disease: Widened distal phalanges
Widened distal phalanges
1 0 1 1.0E-01 0 0
CUI: C1862428
Disease: Thoracic platyspondyly
Thoracic platyspondyly
1 0 1 1.0E-01 0 0