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: C4310830
Disease: Xq25 TRIPLICATION SYNDROME
Xq25 TRIPLICATION SYNDROME 		1 0 1 1.00 0 0
CUI: C4024750
Disease: Abnormality of the palpebral fissures
Abnormality of the palpebral fissures 		2 0 1 0.50 0 0
CUI: C0863029
Disease: Localized Ewing Sarcoma
Localized Ewing Sarcoma 		4 0 1 0.25 0 0
CUI: C4021817
Disease: Abnormality of head or neck
Abnormality of head or neck 		6 0 1 0.17 0 0
CUI: C0542571
Disease: Facial edema
Facial edema 		9 0 1 0.11 0 0
CUI: C1860789
Disease: Leukemia, Megakaryoblastic, of Down Syndrome
Leukemia, Megakaryoblastic, of Down Syndrome 		9 0 1 0.11 0 0
CUI: C1844662
Disease: Unexplained fevers
Unexplained fevers 		14 0 1 7.1E-02 0 0
CUI: C0154017
Disease: Benign neoplasm of bladder
Benign neoplasm of bladder 		15 0 1 6.7E-02 0 0
CUI: C0496930
Disease: Neoplasm of uncertain or unknown behavior of bladder
Neoplasm of uncertain or unknown behavior of bladder 		15 0 1 6.7E-02 0 0
CUI: C2673670
Disease: Curly eyelashes
Curly eyelashes 		15 0 1 6.7E-02 0 0
CUI: C0154091
Disease: Carcinoma in situ of bladder
Carcinoma in situ of bladder 		16 0 1 6.2E-02 0 0
CUI: C4324477
Disease: Transformation to acute myeloid leukaemia
Transformation to acute myeloid leukaemia 		16 0 1 6.2E-02 0 0
CUI: C1854885
Disease: Cerebral dysmyelination
Cerebral dysmyelination 		17 0 1 5.9E-02 0 0
CUI: C0023466
Disease: Leukemia, Monocytic, Chronic
Leukemia, Monocytic, Chronic 		18 0 1 5.6E-02 0 0
CUI: C1865313
Disease: Speech articulation difficulties
Speech articulation difficulties 		23 0 1 4.3E-02 0 0
CUI: C3276036
Disease: High anterior hairline
High anterior hairline 		25 0 1 4.0E-02 0 0
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		31 0 1 3.2E-02 0 0
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia 		33 0 1 3.0E-02 0 0
CUI: C2713368
Disease: Hematopoetic Myelodysplasia
Hematopoetic Myelodysplasia 		38 0 1 2.6E-02 0 0
CUI: C0266610
Disease: Preauricular dimple
Preauricular dimple 		40 0 1 2.5E-02 0 0
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		48 0 1 2.1E-02 0 0
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		49 0 1 2.0E-02 0 0
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		53 0 1 1.9E-02 0 0
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		57 0 1 1.8E-02 0 0
CUI: C0426415
Disease: Large nose
Large nose 		70 0 1 1.4E-02 0 0