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: C4022010
Disease: Maternal seizures
Maternal seizures 		3 3 3 4.2E-02 3 0.30
CUI: C0457756
Disease: Tooth absent
Tooth absent 		5 6 3 4.1E-02 3 0.23
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		13 7 3 3.7E-02 3 0.21
CUI: C0234518
Disease: Slurred speech
Slurred speech 		39 10 4 3.8E-02 3 0.18
CUI: C0266039
Disease: Taurodontism
Taurodontism 		40 10 10 9.9E-02 3 0.18
CUI: C4023116
Disease: Hypoplastic fifth toenail
Hypoplastic fifth toenail 		12 4 2 2.5E-02 2 0.17
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis 		35 13 5 5.0E-02 3 0.15
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		140 16 10 5.0E-02 3 0.13
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		89 11 7 4.6E-02 2 0.11
CUI: C0266324
Disease: Congenital dilatation of ureter
Congenital dilatation of ureter 		3 1 1 1.4E-02 1 1.0E-01
CUI: C1850325
Disease: Labial hypoplasia
Labial hypoplasia 		7 1 1 1.3E-02 1 1.0E-01
CUI: C1856963
Disease: Fragile nails
Fragile nails 		27 1 3 3.2E-02 1 1.0E-01
CUI: C1859442
Disease: Minimal subcutaneous fat
Minimal subcutaneous fat 		4 1 1 1.4E-02 1 1.0E-01
CUI: C3554343
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 17
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 		1 1 1 1.4E-02 1 1.0E-01
CUI: C4021338
Disease: Broad proximal phalanx of the hallux
Broad proximal phalanx of the hallux 		1 1 1 1.4E-02 1 1.0E-01
CUI: C4024780
Disease: Almond-shaped palpebral fissure
Almond-shaped palpebral fissure 		40 1 2 1.8E-02 1 1.0E-01
CUI: C4520847
Disease: Immunoglobulin G subclass deficiency (finding)
Immunoglobulin G subclass deficiency (finding) 		1 1 1 1.4E-02 1 1.0E-01
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 25 7 3.2E-02 3 9.4E-02
CUI: C0013132
Disease: Drooling
Drooling 		95 14 11 7.1E-02 2 9.1E-02
CUI: C0020517
Disease: Hypersensitivity
Hypersensitivity 		90 2 1 6.3E-03 1 9.1E-02
CUI: C0277960
Disease: Dry hair
Dry hair 		12 2 1 1.2E-02 1 9.1E-02
CUI: C1844562
Disease: Medial flaring of the eyebrow
Medial flaring of the eyebrow 		28 2 3 3.1E-02 1 9.1E-02
CUI: C1856202
Disease: U-Shaped upper lip vermilion
U-Shaped upper lip vermilion 		6 2 3 4.1E-02 1 9.1E-02
CUI: C1858539
Disease: Shawl scrotum
Shawl scrotum 		19 2 3 3.4E-02 1 9.1E-02
CUI: C1861443
Disease: Facial hemangioma
Facial hemangioma 		9 2 1 1.3E-02 1 9.1E-02