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: C0231712
Disease: Waddling gait
Waddling gait 		113 0 1 2.5E-03 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 1 2.5E-03 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 1 2.5E-03 0 0
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		110 0 1 2.5E-03 0 0
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		105 0 1 2.6E-03 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 0 1 2.6E-03 0 0
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		104 0 1 2.6E-03 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 2.6E-03 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 1 2.6E-03 0 0
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		102 0 1 2.6E-03 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 1 2.6E-03 0 0
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		100 0 1 2.6E-03 0 0
CUI: C0424230
Disease: Motor retardation
Motor retardation 		98 0 1 2.6E-03 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 1 2.6E-03 0 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		97 0 1 2.6E-03 0 0
CUI: C0013132
Disease: Drooling
Drooling 		95 0 1 2.6E-03 0 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		95 0 1 2.6E-03 0 0
CUI: C0009398
Disease: Color vision defect
Color vision defect 		94 0 1 2.6E-03 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 1 2.6E-03 0 0
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		91 0 1 2.6E-03 0 0
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		88 0 1 2.7E-03 0 0
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		88 0 1 2.7E-03 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 1 2.7E-03 0 0
CUI: C1837463
Disease: Narrow face
Narrow face 		87 0 1 2.7E-03 0 0
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		86 0 1 2.7E-03 0 0