Disease |
PMID |
Source |
HDAC8 |
0 |
CNVD |
NIPBL |
0 |
CNVD |
RAD21 |
0 |
CNVD |
SMC1A |
0 |
CNVD |
SMC3 |
0 |
CNVD |
Ewing''s sarcoma |
21437220 |
CNVD |
Schizophrenia |
19415332 |
CNVD |
Breast cancer |
22522925 |
CNVD |
Autism |
22495311 |
CNVD |
Wilms tumour |
21544195 |
CNVD |
Prader-willi syndrome |
21504564 |
CNVD |
The inv dup or idic syndrome |
19019226 |
CNVD |
Prader-willi syndrome |
21233802 |
CNVD |
Angelman syndrome |
16617304 |
CNVD |
Angelman syndrome |
20970697 |
CNVD |
Autism |
22958593 |
CNVD |
Prader-willi syndrome |
16617304 |
CNVD |
Prader-willi syndrome |
18923514 |
CNVD |
Prader-willi syndrome |
20970697 |
CNVD |
Angelman syndrome |
16183798 |
CNVD |
Angelman syndrome |
18923514 |
CNVD |
Prader-willi syndrome |
22241247 |
CNVD |
Epilepsy |
20970697 |
CNVD |
Autism |
20970697 |
CNVD |
Autism |
19935738 |
CNVD |
Autism |
22930557 |
CNVD |
Autism |
19966786 |
CNVD |
Autism |
18923514 |
CNVD |
Autism |
18925931 |
CNVD |
Autism |
18835857 |
CNVD |
Prader-willi syndrome |
18835857 |
CNVD |
Prader-willi syndrome |
22152151 |
CNVD |
Autism |
22241247 |
CNVD |
15q-syndrome |
21725066 |
CNVD |
Prader-willi syndrome |
21503198 |
CNVD |
Autism |
21956041 |
CNVD |
Prader-willi syndrome |
16760730 |
CNVD |
Prader-willi syndrome |
22470819 |
CNVD |
prenatal diagnosis |
20453657 |
CNVD |
Prader-willi syndrome |
17867985 |
CNVD |
Angelman syndrome |
21072004 |
CNVD |
Acute lymphoblastic leukemia |
20067559 |
CNVD |
Testicular germ cell tumor |
18059402 |
CNVD |
cataract |
16735990 |
CNVD |
Cancer |
21637783 |
CNVD |
Colorectal cancer |
20709793 |
CNVD |
Medulloblastoma |
21979893 |
CNVD |
spastic paraplegia with thinning of corpus callosum |
19105190 |
CNVD |
Schizophrenia |
21324950 |
CNVD |
Astrocytoma |
17387387 |
CNVD |
Esophageal squamous carcinoma |
21637470 |
CNVD |
Endometrial cancer |
22040021 |
CNVD |
Breast cancer |
21264507 |
CNVD |
Disease |
21824424 |
CNVD |
Hodgkin''s lymphoma |
18641027 |
CNVD |
Prader-willi syndrome |
18781185 |
CNVD |
Melanoma |
18172304 |
CNVD |
Autism |
17322880 |
CNVD |
Prader-willi syndrome |
19329560 |
CNVD |
Autism |
17999366 |
CNVD |
Autism |
17901113 |
CNVD |
Neurodevelopmental disorder |
17015230 |
CNVD |
Autism |
18414403 |
CNVD |
Neurocytoma |
17123091 |
CNVD |
Mental retardation |
18923513 |
CNVD |
Colorectal cancer |
16774939 |
CNVD |
Gastric cancer |
17167181 |
CNVD |
Neuroblastoma |
19435921 |
CNVD |
Colorectal cancer |
19359472 |
CNVD |
Monoclonal gammopathy of undetermined significance |
17077331 |
CNVD |
Multiple myeloma |
17077331 |
CNVD |
Colorectal cancer |
16272173 |
CNVD |
Gastrointestinal stromal cancer |
20470368 |
CNVD |
Multiple myeloma |
17550852 |
CNVD |
Gastrointestinal stromal cancer |
20818650 |
CNVD |
Intellectual disability |
22102821 |
CNVD |
Hodgkin''s lymphoma |
17606441 |
CNVD |
T-cell prolymphocytic leukemia |
19278963 |
CNVD |
Breast cancer |
21509527 |
CNVD |
Acute myeloid leukemia |
20729466 |
CNVD |
Oral squamous cell carcinoma |
17134496 |
CNVD |
Breast cancer |
17133270 |
CNVD |
Prostate cancer |
16573809 |
CNVD |
Basal cell lymphoma |
16317097 |
CNVD |
Diffuse large b-cell lymphoma |
16317097 |
CNVD |
Multiple myeloma |
20724749 |
CNVD |
Lung cancer |
18438408 |
CNVD |
Breast cancer |
21858162 |
CNVD |
Chronic lymphocytic leukemia |
21546498 |
CNVD |
Breast cancer |
21785460 |
CNVD |
Prostate cancer |
18632612 |
CNVD |
Angelman syndrome |
18787571 |
CNVD |
Non-syndromic sensorineural hearing loss |
15273396 |
CNVD |
Abnormal corpus callosum |
21572526 |
CNVD |
Neuropsychiatric disorder |
20506139 |
CNVD |
Austim spectrum disorder |
21302340 |
CNVD |
Gastrointestinal stromal cancer |
16982739 |
CNVD |
Autism |
19204725 |
CNVD |
Schizophrenia |
19204725 |
CNVD |
Schizophrenia |
19149910 |
CNVD |
Epilepsy |
22499536 |
CNVD |
Schizophrenia |
22499536 |
CNVD |
Schizophrenia |
18923514 |
CNVD |
Bipolar disorder |
19114987 |
CNVD |
Schizophrenia |
20587603 |
CNVD |
Schizophrenia |
22958593 |
CNVD |
Schizophrenia |
21285140 |
CNVD |
Schizophrenia |
20553308 |
CNVD |
Schizophrenia |
21956041 |
CNVD |
Schizophrenia |
20970697 |
CNVD |
Mental retardation |
19951919 |
CNVD |
Mental retardation |
21956041 |
CNVD |
Myelofibrosis |
22110671 |
CNVD |
Mental retardation |
21062444 |
CNVD |
Autism |
21269290 |
CNVD |
Intellectual disability |
21269290 |
CNVD |
Schizophrenia |
21269290 |
CNVD |
Colorectal cancer |
21128281 |
CNVD |
Epilepsy |
19289393 |
CNVD |
Epilepsy |
20643615 |
CNVD |
Mental retardation |
19289393 |
CNVD |
Mental retardation |
20152051 |
CNVD |
Schizophrenia |
19289393 |
CNVD |
dysmorphic features |
19289393 |
CNVD |
idiopathic epilepsies |
19341504 |
CNVD |
idiopathic generalized epilepsy |
19592580 |
CNVD |
idiopathic generalized epilepsy |
19136953 |
CNVD |
Autism |
22094647 |
CNVD |
Developmental delay |
19898479 |
CNVD |
Mental retardation |
18278044 |
CNVD |
Mental retardation |
19898479 |
CNVD |
Prader-willi syndrome |
18854863 |
CNVD |
Schizophrenia |
19855392 |
CNVD |
Ovarian cancer |
22174824 |
CNVD |
Epilepsy |
20502679 |
CNVD |
small cell lung cancer |
20016488 |
CNVD |
Autism |
19521722 |
CNVD |
Epilepsy |
19521722 |
CNVD |
Mental retardation |
19521722 |
CNVD |
Schizophrenia |
19521646 |
CNVD |
Autism |
19050728 |
CNVD |
Schizophrenia |
19348701 |
CNVD |
Schizophrenia |
18668039 |
CNVD |
Schizophrenia |
18990708 |
CNVD |
Schizophrenia |
19571808 |
CNVD |
Velocardiofacial syndrome |
19329560 |
CNVD |
Schizophrenia |
19443537 |
CNVD |
Epilepsy |
20923578 |
CNVD |
Autism |
19955444 |
CNVD |
Autism |
20964600 |
CNVD |
Schizophrenia |
19955444 |
CNVD |
Olfactory neuroblastoma |
18408657 |
CNVD |