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: C0010278
Disease: Craniosynostosis
Craniosynostosis 		488 90 5 1.0E-02 1 1.1E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 6 1.0E-02 2 2.6E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 7 1.4E-02 1 1.4E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 5 1.0E-02 1 1.5E-02
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		820 55 2 2.4E-03 1 1.8E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 7 1.2E-02 1 1.9E-02
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		15 52 2 9.1E-02 2 3.8E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 6 1.5E-02 2 4.1E-02
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 37 3 6.3E-03 1 2.6E-02
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		8 36 2 0.13 1 2.7E-02
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		30 33 3 8.3E-02 1 2.9E-02
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		5 33 1 7.7E-02 1 2.9E-02
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		14 29 2 9.5E-02 1 3.3E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 29 4 1.4E-02 1 3.3E-02
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		20 24 2 7.4E-02 2 8.3E-02
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		3 20 2 0.20 2 1.0E-01
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		106 20 1 8.8E-03 1 4.8E-02
CUI: C0239676
Disease: High forehead
High forehead 		211 17 4 1.9E-02 1 5.6E-02
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		2 16 2 0.22 1 5.9E-02
CUI: C1867131
Disease: Broad hallux
Broad hallux 		48 14 2 3.6E-02 1 6.7E-02
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 13 2 1.7E-02 2 0.15
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome, Autosomal Dominant 		9 13 1 5.9E-02 1 7.1E-02
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 12 5 2.2E-02 1 7.7E-02
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		67 11 2 2.7E-02 1 8.3E-02
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		3 10 1 9.1E-02 1 9.1E-02