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: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		393 14 373 0.59 10 0.20
CUI: C1834870
Disease: MIRROR MOVEMENTS 1
MIRROR MOVEMENTS 1 		2 11 1 1.6E-03 8 0.17
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 3417 427 6.0E-02 5 1.4E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 1641 470 5.4E-02 5 3.0E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 261 0.12 5 8.4E-03
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		6243 355 419 6.5E-02 5 1.3E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		6776 2793 425 6.1E-02 5 1.8E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 1374 466 5.6E-02 5 3.5E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 40 5.1E-02 5 1.1E-02
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 37 121 0.13 4 5.1E-02
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		1172 115 164 0.10 4 2.6E-02
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 26 42 6.2E-02 4 6.0E-02
CUI: C1969029
Disease: Lissencephaly 3
Lissencephaly 3 		1 40 1 1.6E-03 4 4.9E-02
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		2509 386 291 0.10 3 7.0E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 285 0.11 3 5.0E-03
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		996 25 144 9.8E-02 3 4.5E-02
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		2419 231 277 0.10 3 1.1E-02
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		2420 231 277 0.10 3 1.1E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		3397 1843 283 7.6E-02 2 1.1E-03
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 153 0.13 2 1.6E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 111 0.10 2 1.7E-02
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		613 283 100 8.9E-02 2 6.1E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 147 0.10 2 3.2E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 1644 520 5.1E-02 2 1.2E-03
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		2283 178 248 9.4E-02 2 9.0E-03