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: C4023383
Disease: Narrow internal auditory canal
Narrow internal auditory canal 		14 0 4 0.12 0 0
CUI: C1864795
Disease: Superior pectus carinatum
Superior pectus carinatum 		5 0 3 0.12 0 0
CUI: C1864796
Disease: Pectus excavatum of inferior sternum
Pectus excavatum of inferior sternum 		5 0 3 0.12 0 0
CUI: C4024692
Disease: Reduced factor XIII activity
Reduced factor XIII activity 		5 0 3 0.12 0 0
CUI: C4023205
Disease: Neoplasm of the anterior pituitary
Neoplasm of the anterior pituitary 		6 0 3 0.11 0 0
CUI: C4023457
Disease: Short face
Short face 		6 0 3 0.11 0 0
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		6 0 3 0.11 0 0
CUI: C0398639
Disease: Amegakaryocytic thrombocytopenia
Amegakaryocytic thrombocytopenia 		7 0 3 0.11 0 0
CUI: C4021242
Disease: Hypoplasia of the zygomatic bone
Hypoplasia of the zygomatic bone 		29 0 5 0.10 0 0
CUI: C0342422
Disease: Pituitary gland enlarged
Pituitary gland enlarged 		8 0 3 0.10 0 0
CUI: C0546968
Disease: Fistula of branchial cleft
Fistula of branchial cleft 		8 0 3 0.10 0 0
CUI: C0221184
Disease: Bitemporal Hemianopia
Bitemporal Hemianopia 		9 0 3 1.0E-01 0 0
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes 		21 0 4 9.8E-02 0 0
CUI: C4021794
Disease: Abnormality of the adrenal glands
Abnormality of the adrenal glands 		10 0 3 9.7E-02 0 0
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis 		22 0 4 9.5E-02 0 0
CUI: C1854111
Disease: Broad philtrum
Broad philtrum 		22 0 4 9.5E-02 0 0
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		22 0 4 9.5E-02 0 0
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male 		11 0 3 9.4E-02 0 0
CUI: C1527404
Disease: Female Pseudo-Turner Syndrome
Female Pseudo-Turner Syndrome 		11 0 3 9.4E-02 0 0
CUI: C1834124
Disease: Shield chest
Shield chest 		12 0 3 9.1E-02 0 0
CUI: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine 		12 4 3 9.1E-02 3 0.50
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		13 0 3 8.8E-02 0 0
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		14 0 3 8.6E-02 0 0
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		14 0 3 8.6E-02 0 0
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid 		28 0 4 8.3E-02 0 0