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: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia 		17 0 3 8.1E-02 0 0
CUI: C0151940
Disease: Hypocalcemic tetany
Hypocalcemic tetany 		4 0 2 8.0E-02 0 0
CUI: C0266786
Disease: Short cord
Short cord 		4 0 2 8.0E-02 0 0
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		4 0 2 8.0E-02 0 0
CUI: C0566693
Disease: Large placenta
Large placenta 		4 0 2 8.0E-02 0 0
CUI: C1839276
Disease: Broad secondary alveolar ridge
Broad secondary alveolar ridge 		4 0 2 8.0E-02 0 0
CUI: C1848769
Disease: Overtubulated long bones
Overtubulated long bones 		4 0 2 8.0E-02 0 0
CUI: C1848771
Disease: Prominent superficial blood vessels
Prominent superficial blood vessels 		4 0 2 8.0E-02 0 0
CUI: C1849547
Disease: Osteolytic defects of the distal phalanges of the hand
Osteolytic defects of the distal phalanges of the hand 		4 0 2 8.0E-02 0 0
CUI: C1851808
Disease: Premature delivery because of cervical insufficiency or membrane fragility
Premature delivery because of cervical insufficiency or membrane fragility 		4 0 2 8.0E-02 0 0
CUI: C4022964
Disease: Abnormality of the occipital bone
Abnormality of the occipital bone 		4 0 2 8.0E-02 0 0
CUI: C4023402
Disease: Regional abnormality of skin
Regional abnormality of skin 		4 0 2 8.0E-02 0 0
CUI: C4025078
Disease: Tapering pointed ends of distal finger phalanges
Tapering pointed ends of distal finger phalanges 		4 0 2 8.0E-02 0 0
CUI: C4025133
Disease: Cortical thickening of long bone diaphyses
Cortical thickening of long bone diaphyses 		4 0 2 8.0E-02 0 0
CUI: C4073132
Disease: Abnormal pelvis bone morphology
Abnormal pelvis bone morphology 		4 0 2 8.0E-02 0 0
CUI: C4476724
Disease: Abnormal cellular phenotype
Abnormal cellular phenotype 		4 0 2 8.0E-02 0 0
CUI: C0264172
Disease: Barrel chest
Barrel chest 		18 0 3 7.9E-02 0 0
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		60 0 6 7.8E-02 0 0
CUI: C0426811
Disease: Pseudoarthrosis of clavicle
Pseudoarthrosis of clavicle 		5 0 2 7.7E-02 0 0
CUI: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple 		33 0 4 7.7E-02 0 0
CUI: C0566694
Disease: Small placenta
Small placenta 		5 0 2 7.7E-02 0 0
CUI: C0860439
Disease: Mottled pigmentation
Mottled pigmentation 		5 0 2 7.7E-02 0 0
CUI: C1455734
Disease: Congenital hypoparathyroidism
Congenital hypoparathyroidism 		5 0 2 7.7E-02 0 0
CUI: C1837792
Disease: Insulin-resistant diabetes mellitus at puberty
Insulin-resistant diabetes mellitus at puberty 		5 0 2 7.7E-02 0 0
CUI: C1838610
Disease: Aplasia of the 1st metacarpal
Aplasia of the 1st metacarpal 		5 0 2 7.7E-02 0 0