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: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		20 35 1 5.0E-02 7 0.13
CUI: C1860896
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6 		1 4 1 1.00 2 7.1E-02
CUI: C2931058
Disease: Marfan Syndrome type 2
Marfan Syndrome type 2 		2 1 1 0.50 1 3.8E-02
CUI: C0002940
Disease: Aneurysm
Aneurysm 		22 36 1 4.5E-02 2 3.3E-02
CUI: C1837835
Disease: Bilateral talipes equinovarus
Bilateral talipes equinovarus 		16 6 1 6.2E-02 1 3.2E-02
CUI: C0239815
Disease: Hand clenching
Hand clenching 		26 9 1 3.8E-02 1 2.9E-02
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		5 10 1 0.20 1 2.9E-02
CUI: C0542514
Disease: Blue sclera
Blue sclera 		70 13 1 1.4E-02 1 2.6E-02
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		39 15 1 2.6E-02 1 2.5E-02
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		16 19 1 6.2E-02 1 2.3E-02
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		59 442 1 1.7E-02 10 2.2E-02
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 21 1 4.4E-03 1 2.2E-02
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		188 24 1 5.3E-03 1 2.0E-02
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		190 75 1 5.3E-03 2 2.0E-02
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0 28 0 0 1 1.9E-02
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		295 70 1 3.4E-03 1 1.1E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 1 1.7E-03 1 9.8E-03
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 158 1 1.6E-03 1 5.5E-03
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		1286 214 1 7.8E-04 1 4.2E-03
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		1756 711 1 5.7E-04 1 1.4E-03
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		130 1012 1 7.7E-03 1 9.6E-04
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 1 3.3E-03 0 0
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 0 1 9.1E-04 0 0
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		2235 0 1 4.5E-04 0 0
CUI: C0001430
Disease: Adenoma
Adenoma 		1183 0 1 8.5E-04 0 0