rsid large_stringlengths 5 12 ⌀ | module large_stringclasses 9
values | gene large_stringlengths 0 18 ⌀ | phenotype large_stringlengths 0 1.02k ⌀ | category large_stringclasses 13
values |
|---|---|---|---|---|
null | cancer | MUTYH | Familial adenomatous polyposis 2 | |
null | cancer | MUTYH | Familial adenomatous polyposis 2 | |
rs587780088 | cancer | MUTYH | not provided|Familial adenomatous polyposis 2|Gastric cancer|Pilomatrixoma|Neoplasm of stomach|Hereditary cancer-predisposing syndrome|Carcinoma of colon | |
rs1570467133 | cancer | MUTYH | Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 2 | |
null | cancer | MUTYH | Hereditary cancer-predisposing syndrome | |
rs1383826978 | cancer | MUTYH | Familial adenomatous polyposis 2 | |
rs2524697578 | cancer | MUTYH | Gastric cancer | |
rs1553136984 | cancer | MUTYH | Familial adenomatous polyposis 2 | |
rs767402084 | cancer | MUTYH | Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 2 | |
null | cancer | MUTYH | Familial adenomatous polyposis 2 | |
rs1064795596 | cancer | MUTYH | not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 2 | |
rs2524698721 | cancer | MUTYH | Familial adenomatous polyposis 2 | |
null | cancer | MUTYH | not provided | |
rs121908688 | cancer | RAD54L | Colon adenocarcinoma | |
null | cancer | RAD54L | Lymphoma, non-Hodgkin, familial | |
rs121908690 | cancer | RAD54L | Breast ductal adenocarcinoma | |
rs797044888 | cancer | RAD54L | Inborn genetic diseases | |
rs776226854 | cancer | RAD54L | Familial cancer of breast | |
rs121908689 | cancer | RAD54L | Non-Hodgkin lymphoma | |
rs374567435 | cancer | RAD54L | Polymorphous low grade neuroepithelial tumor of the young|Inborn genetic diseases | |
rs1660658865 | cancer | RAD54L | Premature ovarian failure | |
rs368491231 | cancer | RAD54L | Premature ovarian failure | |
rs746646631 | cancer | CDKN2C | Multiple myeloma | |
rs2524557470 | cancer | JUN | Breast neoplasm | |
rs1655079234 | cancer | JAK1 | Acute megakaryoblastic leukemia in down syndrome | |
rs1655173102 | cancer | JAK1 | Autoinflammation, immune dysregulation, and eosinophilia | |
rs869312953 | cancer | JAK1 | Autoinflammation, immune dysregulation, and eosinophilia|Inborn genetic diseases | |
rs2524099521 | cancer | JAK1 | Autoinflammation, immune dysregulation, and eosinophilia | |
null | cancer | MSH4 | Premature ovarian failure 20|Spermatogenic failure 2 | |
rs2100513927 | cancer | MSH4 | Spermatogenic failure 2 | |
rs777079867 | cancer | MSH4 | Genetic non-acquired premature ovarian failure | |
rs116141807 | cancer | MSH4 | Genetic non-acquired premature ovarian failure | |
rs1651856824 | cancer | MSH4 | Non-obstructive azoospermia | |
rs2100570734 | cancer | MSH4 | Spermatogenic failure 2 | |
rs751781089 | cancer | MSH4 | Non-obstructive azoospermia | |
rs1430228393 | cancer | MSH4 | Genetic non-acquired premature ovarian failure | |
rs149910287 | cancer | MSH4 | Spermatogenic failure 2 | |
rs2100581757 | cancer | MSH4 | Spermatogenic failure 2 | |
rs149042353 | cancer | MSH4 | Spermatogenic failure 2|Premature ovarian failure 20|Non-obstructive azoospermia | |
rs1386320504 | cancer | MSH4 | Genetic non-acquired premature ovarian failure|Spermatogenic failure 2 | |
rs377712900 | cancer | MSH4 | Spermatogenic failure 2|Premature ovarian failure 20|Oligospermia|Non-obstructive azoospermia|Premature ovarian insufficiency | |
rs774501542 | cancer | MSH4 | Premature ovarian failure 20 | |
rs557796016 | cancer | MSH4 | Genetic non-acquired premature ovarian failure | |
null | cancer | MSH4 | Premature ovarian failure 20|Spermatogenic failure 2 | |
rs771456188 | cancer | MSH4 | Genetic non-acquired premature ovarian failure | |
rs2101738598 | cancer | NRAS | Noonan syndrome 6 | |
rs2526451293 | cancer | NRAS | Noonan syndrome | |
rs2526451323 | cancer | NRAS | Pyogenic granuloma | |
rs11554290 | cancer | NRAS | Vascular malformation|Colorectal cancer|Large congenital melanocytic nevus|Neurocutaneous melanocytosis|not provided|Linear nevus sebaceous syndrome|Epidermal nevus|Noonan syndrome 6|Non-small cell lung carcinoma|Thyroid cancer, nonmedullary, 2 | |
rs267606920 | cancer | NRAS | NRAS-related disorder|Cardiovascular phenotype|not provided|RASopathy|Noonan syndrome 6|Noonan syndrome 1 | |
rs1557982817 | cancer | NRAS | not provided | |
rs1570874751 | cancer | NRAS | Anemia|Noonan syndrome | |
rs730880965 | cancer | NRAS | Cardiovascular phenotype|not provided|Noonan syndrome 6 | |
rs2101742052 | cancer | NRAS | not provided|RASopathy|Colorectal cancer|Noonan syndrome|Noonan syndrome 1|Noonan syndrome and Noonan-related syndrome | |
rs267606921 | cancer | NRAS | not provided|RASopathy|Noonan syndrome|Noonan syndrome 1|Noonan syndrome 6 | |
null | cancer | NRAS | RASopathy | |
rs730880967 | cancer | NRAS | RASopathy | |
rs2101743991 | cancer | NRAS | Noonan syndrome 6 | |
rs397514553 | cancer | NRAS | Epidermal nevus|Noonan syndrome 1 | |
rs869025573 | cancer | NRAS | not provided|RASopathy|Noonan syndrome 1 | |
rs121434596 | cancer | NRAS | Cardiovascular phenotype|Noonan syndrome 6 | |
rs121434595 | cancer | NRAS | Large congenital melanocytic nevus|not provided|Linear nevus sebaceous syndrome|Acute myeloid leukemia|Noonan syndrome 6|Carcinoma of colon | |
rs121913237 | cancer | NRAS | Colorectal cancer|not provided|RASopathy|Noonan syndrome|Autoimmune lymphoproliferative syndrome type 4 | |
rs2101744255 | cancer | NRAS | NRAS-related disorder | |
rs121913250 | cancer | NRAS | not provided|Chronic myeloid leukemia | |
rs1325403451 | cancer | NOTCH2 | Paediatric disorders|not provided|Hajdu-Cheney syndrome|Alagille syndrome due to a NOTCH2 point mutation | |
rs387906749 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs1557801639 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs2101141863 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs1649037695 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs2526103665 | cancer | NOTCH2 | NOTCH2-related disorder | |
rs1553193485 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
null | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs2101142159 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs2526104121 | cancer | NOTCH2 | not provided | |
null | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs387906747 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs1570654979 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs2101142622 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs771237928 | cancer | NOTCH2 | not provided|Hajdu-Cheney syndrome|Monoclonal B-Cell Lymphocytosis | |
rs387906748 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs1649047546 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs1553193507 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs2101142928 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs886041862 | cancer | NOTCH2 | not provided|Hajdu-Cheney syndrome | |
null | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs1553193524 | cancer | NOTCH2 | not provided | |
rs2526105966 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs886041979 | cancer | NOTCH2 | not provided | |
null | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
null | cancer | NOTCH2 | Alagille syndrome due to a NOTCH2 point mutation|Hajdu-Cheney syndrome | |
rs387906746 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs2101143618 | cancer | NOTCH2 | Alagille syndrome due to a NOTCH2 point mutation|Hajdu-Cheney syndrome | |
rs1557802165 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs1570655570 | cancer | NOTCH2 | Alagille syndrome due to a NOTCH2 point mutation | |
rs2101144082 | cancer | NOTCH2 | Alagille syndrome due to a NOTCH2 point mutation|Hajdu-Cheney syndrome|See cases | |
rs1553193574 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs1649066485 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs1649067817 | cancer | NOTCH2 | NOTCH2-related disorder|not provided|Hajdu-Cheney syndrome | |
rs2526107620 | cancer | NOTCH2 | Hajdu-Cheney syndrome |
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