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: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		36 0 21 0.28 0 0
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		16 0 15 0.25 0 0
CUI: C4021821
Disease: Abnormality of the urinary system
Abnormality of the urinary system 		50 0 21 0.24 0 0
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		51 0 21 0.23 0 0
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		86 0 21 0.17 0 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		117 0 25 0.16 0 0
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		34 0 13 0.16 0 0
CUI: C0030232
Disease: Pallor
Pallor 		124 0 21 0.13 0 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 23 0.13 0 0
CUI: C0018566
Disease: Congenital Hand Deformities
Congenital Hand Deformities 		15 0 8 0.12 0 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		196 0 26 0.11 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 26 8.7E-02 0 0
CUI: C0858867
Disease: Reticulocytopenia
Reticulocytopenia 		17 0 6 8.5E-02 0 0
CUI: C0795907
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME 		18 0 6 8.3E-02 0 0
CUI: C4021592
Disease: Unilateral primary pulmonary dysgenesis
Unilateral primary pulmonary dysgenesis 		5 0 5 8.3E-02 0 0
CUI: C4025695
Disease: Right aortic arch with mirror image branching
Right aortic arch with mirror image branching 		7 0 5 8.1E-02 0 0
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1 		12 0 5 7.5E-02 0 0
CUI: C0042454
Disease: Velopharyngeal Insufficiency
Velopharyngeal Insufficiency 		27 0 6 7.4E-02 0 0
CUI: C0542035
Disease: Erythroid hypoplasia
Erythroid hypoplasia 		14 0 5 7.2E-02 0 0
CUI: C1860475
Disease: Retinal vascular tortuosity
Retinal vascular tortuosity 		20 0 5 6.7E-02 0 0
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		39 0 6 6.5E-02 0 0
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		46 0 6 6.0E-02 0 0
CUI: C0016506
Disease: Foot Deformities
Foot Deformities 		66 5 7 5.9E-02 2 0.40
CUI: C0302845
Disease: MCV - raised
MCV - raised 		12 0 4 5.9E-02 0 0
CUI: C1859606
Disease: Decreased number of large peripheral myelinated nerve fibers
Decreased number of large peripheral myelinated nerve fibers 		14 0 4 5.7E-02 0 0