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: C3150736
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj 		1 6 1 1.00 1 0.17
CUI: C4021156
Disease: Enlarged semicircular canal
Enlarged semicircular canal 		1 1 1 1.00 1 1.00
CUI: C4022933
Disease: Abnormal protein O-linked glycosylation
Abnormal protein O-linked glycosylation 		2 0 1 0.50 0 0
CUI: C4023387
Disease: Dilated vestibule of the inner ear
Dilated vestibule of the inner ear 		2 1 1 0.50 1 1.00
CUI: C4025311
Disease: Irregularity of vertebral bodies
Irregularity of vertebral bodies 		2 0 1 0.50 0 0
CUI: C0426430
Disease: Drooping nasal tip
Drooping nasal tip 		3 0 1 0.33 0 0
CUI: C3888417
Disease: CATARACT 5, MULTIPLE TYPES
CATARACT 5, MULTIPLE TYPES 		3 9 1 0.33 1 0.11
CUI: C4025017
Disease: Fatal liver failure in infancy
Fatal liver failure in infancy 		3 0 1 0.33 0 0
CUI: C1836264
Disease: Congenital bilateral ptosis
Congenital bilateral ptosis 		4 1 1 0.25 1 1.00
CUI: C1842836
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii 		6 0 1 0.17 0 0
CUI: C1844925
Disease: Cervical spinal canal stenosis
Cervical spinal canal stenosis 		6 2 1 0.17 1 0.50
CUI: C1856542
Disease: Prominent scalp veins
Prominent scalp veins 		6 1 1 0.17 1 1.00
CUI: C1862152
Disease: Aplasia/Hypoplasia of the middle phalanges of the hand
Aplasia/Hypoplasia of the middle phalanges of the hand 		7 1 1 0.14 1 1.00
CUI: C2676973
Disease: Dilatated internal auditory canal
Dilatated internal auditory canal 		7 2 1 0.14 1 0.50
CUI: C4021094
Disease: Type II transferrin isoform profile
Type II transferrin isoform profile 		7 0 1 0.14 0 0
CUI: C1837785
Disease: Prominent superficial veins
Prominent superficial veins 		8 0 1 0.12 0 0
CUI: C1845667
Disease: RETINITIS PIGMENTOSA 3
RETINITIS PIGMENTOSA 3 		8 0 1 0.12 0 0
CUI: C1855843
Disease: Severe intrauterine growth retardation
Severe intrauterine growth retardation 		9 3 1 0.11 1 0.33
CUI: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery 		10 10 1 1.0E-01 1 1.0E-01
CUI: C4021584
Disease: Frontotemporal cerebral atrophy
Frontotemporal cerebral atrophy 		14 0 1 7.1E-02 0 0
CUI: C1837835
Disease: Bilateral talipes equinovarus
Bilateral talipes equinovarus 		16 6 1 6.2E-02 1 0.17
CUI: C1854495
Disease: Recurrent infection of the gastrointestinal tract
Recurrent infection of the gastrointestinal tract 		16 0 1 6.2E-02 0 0
CUI: C4025858
Disease: Abnormal cochlea morphology
Abnormal cochlea morphology 		16 1 1 6.2E-02 1 1.00
CUI: C4073184
Disease: Thick hair
Thick hair 		16 0 1 6.2E-02 0 0
CUI: C0239181
Disease: Intermittent diarrhea
Intermittent diarrhea 		17 0 1 5.9E-02 0 0