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: C1969176
Disease: Hypoplastic pubic rami
Hypoplastic pubic rami 		3 0 3 0.12 0 0
CUI: C1860247
Disease: Prominent glabella
Prominent glabella 		14 0 4 0.11 0 0
CUI: C1855698
Disease: Aplasia cutis congenita of scalp
Aplasia cutis congenita of scalp 		7 0 3 0.10 0 0
CUI: C1860244
Disease: Malrotation of small bowel
Malrotation of small bowel 		7 0 3 0.10 0 0
CUI: C0266249
Disease: Gallbladder anomaly congenital
Gallbladder anomaly congenital 		8 0 3 1.0E-01 0 0
CUI: C0266054
Disease: Premature tooth eruption
Premature tooth eruption 		12 0 3 8.8E-02 0 0
CUI: C1968999
Disease: Rib segmentation abnormalities
Rib segmentation abnormalities 		12 0 3 8.8E-02 0 0
CUI: C4281771
Disease: Thin eyebrow
Thin eyebrow 		12 0 3 8.8E-02 0 0
CUI: C4524104
Disease: Trisomy 4p
Trisomy 4p 		2 0 2 8.0E-02 0 0
CUI: C0026825
Disease: Flaccid Muscle Tone
Flaccid Muscle Tone 		16 0 3 7.9E-02 0 0
CUI: C3150086
Disease: Aplasia/Hypoplasia of the nipples
Aplasia/Hypoplasia of the nipples 		16 0 3 7.9E-02 0 0
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		30 0 4 7.8E-02 0 0
CUI: C1840380
Disease: Persistent cavum septum pellucidum
Persistent cavum septum pellucidum 		17 0 3 7.7E-02 0 0
CUI: C1856186
Disease: Deafness enamel hypoplasia nail defects
Deafness enamel hypoplasia nail defects 		3 0 2 7.7E-02 0 0
CUI: C0401149
Disease: Chronic constipation
Chronic constipation 		47 16 5 7.5E-02 1 5.6E-02
CUI: C1857280
Disease: Infra-orbital crease
Infra-orbital crease 		4 0 2 7.4E-02 0 0
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases 		19 0 3 7.3E-02 0 0
CUI: C0239154
Disease: High pitched cry
High pitched cry 		5 0 2 7.1E-02 0 0
CUI: C0266298
Disease: Accessory kidney
Accessory kidney 		20 0 3 7.1E-02 0 0
CUI: C1853618
Disease: Perivascular spaces
Perivascular spaces 		5 0 2 7.1E-02 0 0
CUI: C1860243
Disease: Abnormal sternal ossification
Abnormal sternal ossification 		6 0 2 6.9E-02 0 0
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder 		6 0 2 6.9E-02 0 0
CUI: C4025787
Disease: Calvarial skull defect
Calvarial skull defect 		22 0 3 6.8E-02 0 0
CUI: C0559459
Disease: Sacrococcygeal teratoma
Sacrococcygeal teratoma 		7 0 2 6.7E-02 0 0
CUI: C1865313
Disease: Speech articulation difficulties
Speech articulation difficulties 		23 0 3 6.7E-02 0 0