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: C1852085
Disease: Digitotalar Dysmorphism
Digitotalar Dysmorphism 		6 0 5 0.33 0 0
CUI: C0220662
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1
ARTHROGRYPOSIS, DISTAL, TYPE 1 		9 0 5 0.28 0 0
CUI: C4021959
Disease: Round ear
Round ear 		10 0 5 0.26 0 0
CUI: C0231679
Disease: Ulnar deviation of the fingers
Ulnar deviation of the fingers 		31 0 8 0.22 0 0
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		22 15 6 0.20 2 9.1E-02
CUI: C0265654
Disease: Tarsal Coalition
Tarsal Coalition 		22 0 6 0.20 0 0
CUI: C4048199
Disease: Ulnar deviation of the hand or of fingers of the hand
Ulnar deviation of the hand or of fingers of the hand 		11 0 4 0.19 0 0
CUI: C1834523
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B
ARTHROGRYPOSIS, DISTAL, TYPE 2B 		25 6 5 0.15 1 7.1E-02
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		26 0 5 0.14 0 0
CUI: C1854783
Disease: Grayish enamel
Grayish enamel 		2 0 2 0.14 0 0
CUI: C1854785
Disease: Constricted iliac wings
Constricted iliac wings 		2 0 2 0.14 0 0
CUI: C1854786
Disease: Epiphyseal deformities of tubular bones
Epiphyseal deformities of tubular bones 		2 0 2 0.14 0 0
CUI: C1854787
Disease: Pointed proximal second through fifth metacarpals
Pointed proximal second through fifth metacarpals 		2 0 2 0.14 0 0
CUI: C1446712
Disease: Overlapping fingers
Overlapping fingers 		27 0 5 0.14 0 0
CUI: C1846798
Disease: Cervical subluxation
Cervical subluxation 		3 0 2 0.13 0 0
CUI: C3179194
Disease: GALNS Deficiency
GALNS Deficiency 		3 0 2 0.13 0 0
CUI: C4023060
Disease: Keratan sulfate excretion in urine
Keratan sulfate excretion in urine 		3 0 2 0.13 0 0
CUI: C4225398
Disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 		3 0 2 0.13 0 0
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		4 0 2 0.12 0 0
CUI: C0270969
Disease: Zebra body myopathy
Zebra body myopathy 		4 0 2 0.12 0 0
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		40 0 6 0.12 0 0
CUI: C1848850
Disease: Nevus flammeus of the forehead
Nevus flammeus of the forehead 		4 0 2 0.12 0 0
CUI: C1854780
Disease: Flaring of rib cage
Flaring of rib cage 		4 0 2 0.12 0 0
CUI: C1856599
Disease: Beaking of vertebral bodies
Beaking of vertebral bodies 		13 0 3 0.12 0 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		40 0 6 0.12 0 0