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: C0302142
Disease: Deformity
Deformity 		350 26 349 0.32 26 0.36
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		80 16 68 6.1E-02 7 8.5E-02
CUI: C0220810
Disease: Congenital defects
Congenital defects 		126 6 126 0.11 6 8.2E-02
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		669 77 158 9.8E-02 11 7.9E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		766 80 178 0.11 11 7.7E-02
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		246 45 75 5.9E-02 8 7.3E-02
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		51 45 31 2.8E-02 8 7.3E-02
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency 		70 8 32 2.8E-02 5 6.6E-02
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		304 122 110 8.5E-02 12 6.6E-02
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		406 58 166 0.12 8 6.5E-02
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency 		29 11 6 5.4E-03 5 6.3E-02
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 6 5 4.5E-03 4 5.3E-02
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		85 13 41 3.6E-02 4 4.9E-02
CUI: C0025281
Disease: Meniere Disease
Meniere Disease 		69 36 17 1.5E-02 5 4.8E-02
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		688 40 141 8.6E-02 5 4.6E-02
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		162 21 56 4.7E-02 4 4.4E-02
CUI: C0565599
Disease: Maternal hypertension
Maternal hypertension 		52 22 13 1.1E-02 4 4.4E-02
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma 		184 46 62 5.1E-02 5 4.4E-02
CUI: C0028960
Disease: Oligospermia
Oligospermia 		217 72 49 3.9E-02 6 4.3E-02
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		99 50 49 4.3E-02 5 4.2E-02
CUI: C0349459
Disease: Cervical intraepithelial neoplasia grade 2
Cervical intraepithelial neoplasia grade 2 		77 3 30 2.6E-02 3 4.1E-02
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		267 80 105 8.3E-02 6 4.1E-02
CUI: C0024620
Disease: Primary Malignant Liver Neoplasm
Primary Malignant Liver Neoplasm 		60 4 19 1.7E-02 3 4.1E-02
CUI: C0079748
Disease: Precursor cell lymphoblastic lymphoma
Precursor cell lymphoblastic lymphoma 		88 4 19 1.6E-02 3 4.1E-02
CUI: C0278721
Disease: Adult Lymphoblastic Lymphoma
Adult Lymphoblastic Lymphoma 		85 4 19 1.6E-02 3 4.1E-02