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: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma 		414 16 161 0.22 6 0.26
CUI: C0677861
Disease: Bilateral Malignant Neoplasm
Bilateral Malignant Neoplasm 		1 1 1 2.1E-03 1 7.7E-02
CUI: C1332549
Disease: Bilateral Carcinoma
Bilateral Carcinoma 		2 1 1 2.1E-03 1 7.7E-02
CUI: C1334206
Disease: Intermediate Grade Ductal Breast Carcinoma In Situ
Intermediate Grade Ductal Breast Carcinoma In Situ 		4 1 4 8.2E-03 1 7.7E-02
CUI: C1387925
Disease: Abnormality of limbs
Abnormality of limbs 		8 1 1 2.0E-03 1 7.7E-02
CUI: C1969879
Disease: Limb joint contracture
Limb joint contracture 		10 1 1 2.0E-03 1 7.7E-02
CUI: C4551489
Disease: Ureter duplex
Ureter duplex 		1 1 1 2.1E-03 1 7.7E-02
CUI: C0542518
Disease: Enlarged kidney
Enlarged kidney 		27 2 5 9.8E-03 1 7.1E-02
CUI: C3544321
Disease: Treatment-resistant schizophrenia
Treatment-resistant schizophrenia 		23 2 3 5.9E-03 1 7.1E-02
CUI: C0266190
Disease: Congenital atresia of colon
Congenital atresia of colon 		2 3 1 2.1E-03 1 6.7E-02
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		77 3 6 1.1E-02 1 6.7E-02
CUI: C1883018
Disease: Severe Aplastic Anemia
Severe Aplastic Anemia 		70 4 8 1.5E-02 1 6.2E-02
CUI: C4016951
Disease: BREAST CANCER, EARLY-ONSET
BREAST CANCER, EARLY-ONSET 		1 4 1 2.1E-03 1 6.2E-02
CUI: C0154084
Disease: Stage 0 Breast Carcinoma
Stage 0 Breast Carcinoma 		33 8 16 3.2E-02 1 5.0E-02
CUI: C4520821
Disease: Stage 0 Breast Cancer AJCC v6 and v7
Stage 0 Breast Cancer AJCC v6 and v7 		41 8 20 3.9E-02 1 5.0E-02
CUI: C4733093
Disease: progesterone receptor-negative breast cancer
progesterone receptor-negative breast cancer 		24 11 10 2.0E-02 1 4.3E-02
CUI: C1861028
Disease: Esophageal atresia with or without tracheoesophageal fistula
Esophageal atresia with or without tracheoesophageal fistula 		19 12 4 8.0E-03 1 4.2E-02
CUI: C1835817
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N
FANCONI ANEMIA, COMPLEMENTATION GROUP N 		4 13 3 6.2E-03 1 4.0E-02
CUI: C1859461
Disease: Femoral bowing
Femoral bowing 		38 13 8 1.6E-02 1 4.0E-02
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		31 24 4 7.8E-03 1 2.8E-02
CUI: C0039075
Disease: Syndactyly
Syndactyly 		127 26 16 2.7E-02 1 2.6E-02
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 28 12 1.8E-02 1 2.5E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 19 2.6E-02 1 2.1E-02
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		1 37 1 2.1E-03 1 2.0E-02
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast 		87 38 37 6.9E-02 1 2.0E-02