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: C4025667
Disease: Partial absence of cerebellar vermis
Partial absence of cerebellar vermis 		2 0 1 0.50 0 0
CUI: C4476625
Disease: Abnormal temper tantrums
Abnormal temper tantrums 		4 0 1 0.25 0 0
CUI: C4024166
Disease: Crumpled ear
Crumpled ear 		6 5 1 0.17 1 0.20
CUI: C0270820
Disease: Gelastic Epilepsy
Gelastic Epilepsy 		7 0 1 0.14 0 0
CUI: C3665983
Disease: Oral aversion
Oral aversion 		7 0 1 0.14 0 0
CUI: C0011998
Disease: Diastema of Teeth
Diastema of Teeth 		9 0 1 0.11 0 0
CUI: C1861443
Disease: Facial hemangioma
Facial hemangioma 		9 2 1 0.11 1 0.50
CUI: C1837512
Disease: Decreased serum complement C3
Decreased serum complement C3 		12 0 1 8.3E-02 0 0
CUI: C1840380
Disease: Persistent cavum septum pellucidum
Persistent cavum septum pellucidum 		17 0 1 5.9E-02 0 0
CUI: C0576225
Disease: Long foot
Long foot 		19 0 1 5.3E-02 0 0
CUI: C1857482
Disease: Slender finger
Slender finger 		20 0 1 5.0E-02 0 0
CUI: C1384670
Disease: Single umbilical artery
Single umbilical artery 		28 0 1 3.6E-02 0 0
CUI: C0264611
Disease: Apraxia of Phonation
Apraxia of Phonation 		30 0 1 3.3E-02 0 0
CUI: C0426870
Disease: Large hand
Large hand 		35 0 1 2.9E-02 0 0
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology 		35 0 1 2.9E-02 0 0
CUI: C0236773
Disease: Depressed bipolar I disorder
Depressed bipolar I disorder 		37 0 1 2.7E-02 0 0
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		39 15 1 2.6E-02 1 6.7E-02
CUI: C0042961
Disease: Intestinal Volvulus
Intestinal Volvulus 		42 0 1 2.4E-02 0 0
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		50 0 1 2.0E-02 0 0
CUI: C0221353
Disease: Horseshoe Kidney
Horseshoe Kidney 		51 3 1 2.0E-02 1 0.33
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		67 0 1 1.5E-02 0 0
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		69 11 1 1.4E-02 1 9.1E-02
CUI: C0426415
Disease: Large nose
Large nose 		70 7 1 1.4E-02 1 0.14
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		71 0 1 1.4E-02 0 0
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		71 10 1 1.4E-02 1 1.0E-01