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: C0025990
Disease: Micrognathism
Micrognathism 		586 53 3 5.1E-03 1 1.9E-02
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		18 11 1 4.5E-02 1 9.1E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		192 50 1 5.1E-03 1 2.0E-02
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		137 13 1 7.1E-03 1 7.7E-02
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		73 11 1 1.3E-02 1 9.1E-02
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		74 32 1 1.3E-02 1 3.1E-02
CUI: C0231255
Disease: Decreased body mass index
Decreased body mass index 		3 3 1 0.14 1 0.33
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 121 2 2.2E-03 1 8.3E-03
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull 		4 11 1 0.12 1 9.1E-02
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 34 2 1.1E-02 1 2.9E-02
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		36 2 1 2.5E-02 1 0.50
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		129 11 3 2.3E-02 1 9.1E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 4 3.5E-03 1 3.4E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 1 3.6E-03 1 9.4E-03
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		13 20 1 5.9E-02 1 5.0E-02
CUI: C0432040
Disease: Simple syndactyly of toes, first web space
Simple syndactyly of toes, first web space 		5 3 1 0.11 1 0.33
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		30 25 1 2.9E-02 1 4.0E-02
CUI: C0454642
Disease: Receptive language delay
Receptive language delay 		9 5 1 7.7E-02 1 0.20
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 2 3.6E-03 1 5.2E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 2 1.1E-03 1 1.8E-03
CUI: C0575802
Disease: Small hand
Small hand 		108 31 1 8.9E-03 1 3.2E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 1 2.2E-02 1 1.8E-02
CUI: C1835884
Disease: Triangular face
Triangular face 		111 16 2 1.8E-02 1 6.2E-02
CUI: C1837142
Disease: Poor suck
Poor suck 		103 31 2 1.9E-02 1 3.2E-02
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 25 1 6.1E-03 1 4.0E-02