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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		88 6387 2 1.8E-02 1 1.6E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 3417 15 2.2E-03 1 2.9E-04
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		74 2117 1 1.0E-02 1 4.7E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 7 9.2E-03 1 3.0E-03
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 131 1 7.7E-03 1 7.6E-03
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		127 83 2 1.3E-02 1 1.2E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 13 1.8E-02 1 1.2E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 8 1.3E-02 1 1.3E-02
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		190 75 4 1.9E-02 1 1.3E-02
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		276 54 8 2.7E-02 1 1.8E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 9 1.5E-02 1 1.9E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 4 9.7E-03 1 2.0E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 6 2.0E-02 1 2.5E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 4 1.4E-02 1 2.7E-02
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 28 7 3.1E-02 1 3.4E-02
CUI: C0039075
Disease: Syndactyly
Syndactyly 		127 26 5 3.4E-02 1 3.7E-02
CUI: C0018916
Disease: Hemangioma
Hemangioma 		256 24 4 1.4E-02 1 4.0E-02
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		31 24 1 1.8E-02 1 4.0E-02
CUI: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
Noninfiltrating Intraductal Carcinoma 		486 13 5 9.8E-03 1 7.1E-02
CUI: C1835817
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N
FANCONI ANEMIA, COMPLEMENTATION GROUP N 		4 13 1 3.3E-02 1 7.1E-02
CUI: C1859461
Disease: Femoral bowing
Femoral bowing 		38 13 3 4.8E-02 1 7.1E-02
CUI: C0266190
Disease: Congenital atresia of colon
Congenital atresia of colon 		2 3 1 3.6E-02 1 0.25
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		77 3 8 8.3E-02 1 0.25
CUI: C0677861
Disease: Bilateral Malignant Neoplasm
Bilateral Malignant Neoplasm 		1 1 1 3.7E-02 1 0.50
CUI: C1332549
Disease: Bilateral Carcinoma
Bilateral Carcinoma 		2 1 1 3.6E-02 1 0.50