Disease |
PMID |
Source |
Medulloblastoma |
21979893 |
CNVD |
Breast cancer |
17603634 |
CNVD |
Ewing''s sarcoma |
21437220 |
CNVD |
Glioblastoma multiforme |
21080181 |
CNVD |
Ependymoma |
16718352 |
CNVD |
Prostate cancer |
18632612 |
CNVD |
Thoracic aortic aneurysm |
21092924 |
CNVD |
Intellectual disability |
22102821 |
CNVD |
Cancer |
20164919 |
CNVD |
Autism |
17483303 |
CNVD |
Autism |
22495311 |
CNVD |
Autism |
18522746 |
CNVD |
Neurodevelopmental disorder |
22521361 |
CNVD |
Melanoma |
18172304 |
CNVD |
Cancer |
16751803 |
CNVD |
T-cell prolymphocytic leukemia |
19278963 |
CNVD |
Acute lymphoblastic leukemia |
20067559 |
CNVD |
Acute lymphoblastic leukemia |
21980252 |
CNVD |
Non-syndromic sensorineural hearing loss |
15273396 |
CNVD |
Seminomas |
18059402 |
CNVD |
Testicular germ cell tumor |
18059402 |
CNVD |
Myxofibrosarcoma |
16751306 |
CNVD |
Breast cancer |
16272173 |
CNVD |
Ovarian cancer |
21781307 |
CNVD |
Lung cancer |
18438408 |
CNVD |
Mowat-Wilson syndrome |
21572526 |
CNVD |
Disorders of sex development |
21048976 |
CNVD |
epilepsy |
18472482 |
CNVD |
Ewing''s sarcoma |
17952124 |
CNVD |
Hepatocellular carcinoma |
16750200 |
CNVD |
Cancer |
21637783 |
CNVD |
Non-syndromic sensorineural hearing loss |
18471307 |
CNVD |
Esophageal squamous carcinoma |
21637470 |
CNVD |
Liposarcoma |
21253554 |
CNVD |
Endometrial cancer |
22040021 |
CNVD |
Breast cancer |
21264507 |
CNVD |
Embryonal rhabdomyosarcoma |
16790082 |
CNVD |
Autism |
16446308 |
CNVD |
Autism |
19401682 |
CNVD |
lymphocytic leukemia |
21291569 |
CNVD |
Malignant peripheral nerve sheath tumor |
18522746 |
CNVD |
Splenic marginal zone lymphoma |
21957467 |
CNVD |
Basal cell lymphoma |
16317097 |
CNVD |
Diffuse large b-cell lymphoma |
16317097 |
CNVD |
Colorectal cancer |
16272173 |
CNVD |
Chronic lymphocytic leukemia |
21546498 |
CNVD |
myoclonus epilepsy |
18472482 |
CNVD |
Benign familial neonatal-infantile seizures |
18472482 |
CNVD |
Diffuse large b-cell lymphoma |
18287131 |
CNVD |
Astrocytoma |
22246337 |
CNVD |
Myelofibrosis |
22110671 |
CNVD |
Ocular motor apraxia |
21572526 |
CNVD |
Acute lymphoblastic leukemia |
21390130 |
CNVD |
Congenital abnormalities |
21549014 |
CNVD |
Developmental delay |
21549014 |
CNVD |
Idiopathic chronic pancreatitis |
21549014 |
CNVD |
Mental retardation |
21549014 |
CNVD |
Maculopathy |
20981449 |
CNVD |
Nephronophthisis |
22470819 |
CNVD |
Colorectal cancer |
16912164 |
CNVD |
Ischaemic stroke |
16980335 |
CNVD |
Acute myeloid leukemia |
18000384 |
CNVD |
Nephronophthisis |
17901113 |
CNVD |
small cell lung cancer |
20016488 |
CNVD |
Schizophrenia |
23813976 |
CNVD |
Developmental delay |
21147756 |
CNVD |
Non-syndromic sensorineural hearing loss |
17122850 |
CNVD |
Non-syndromic sensorineural hearing loss |
17289997 |
CNVD |