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 |
|---|---|---|---|---|
rs2526107938 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs1557802353 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs2101144806 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs2526108695 | cancer | NOTCH2 | Alagille syndrome due to a NOTCH2 point mutation|Hajdu-Cheney syndrome | |
rs1649084282 | cancer | NOTCH2 | Alagille syndrome due to a NOTCH2 point mutation | |
rs1649088431 | cancer | NOTCH2 | Alagille syndrome due to a NOTCH2 point mutation | |
rs312262801 | cancer | NOTCH2 | Inborn genetic diseases|not provided|Hajdu-Cheney syndrome | |
rs2526112692 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs1649134213 | cancer | NOTCH2 | NOTCH2-related disorder|not provided|Hajdu-Cheney syndrome | |
rs312262798 | cancer | NOTCH2 | Alagille syndrome due to a NOTCH2 point mutation | |
rs2526112913 | cancer | NOTCH2 | Alagille syndrome due to a NOTCH2 point mutation | |
rs1557803353 | cancer | NOTCH2 | not provided | |
null | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs1382733866 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs927740391 | cancer | NOTCH2 | not provided|Hajdu-Cheney syndrome | |
rs1570658378 | cancer | NOTCH2 | Alagille syndrome due to a NOTCH2 point mutation | |
rs1557804111 | cancer | NOTCH2 | Alagille syndrome due to a NOTCH2 point mutation | |
rs2101151409 | cancer | NOTCH2 | not provided | |
rs1435723160 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs1553193977 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs1553194093 | cancer | NOTCH2 | not provided | |
rs1649314295 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
null | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
null | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs2526140861 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
null | cancer | NOTCH2 | Alagille syndrome due to a NOTCH2 point mutation | |
rs2526141876 | cancer | NOTCH2 | Alagille syndrome due to a NOTCH2 point mutation | |
rs1064793660 | cancer | NOTCH2 | not provided | |
rs1649449471 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs2526149314 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs1557807153 | cancer | NOTCH2 | not provided | |
rs2101098803 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs1557812162 | cancer | NOTCH2 | not provided | |
null | cancer | NOTCH2 | Alagille syndrome due to a NOTCH2 point mutation | |
rs1553195973 | cancer | NOTCH2 | not provided | |
rs2526206561 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs2101114577 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
null | cancer | NOTCH2 | Alagille syndrome due to a NOTCH2 point mutation|Hajdu-Cheney syndrome | |
rs1650362306 | cancer | NOTCH2 | Alagille syndrome due to a NOTCH2 point mutation | |
null | cancer | NOTCH2 | Alagille syndrome due to a NOTCH2 point mutation|Hajdu-Cheney syndrome | |
rs2101122493 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
null | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs1553199298 | cancer | NOTCH2 | not provided | |
rs2101139955 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs1557825245 | cancer | NOTCH2 | not provided | |
null | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs2526300230 | cancer | NOTCH2 | Alagille syndrome due to a NOTCH2 point mutation | |
rs111033632 | cancer | NOTCH2 | Alagille syndrome due to a NOTCH2 point mutation | |
rs781957465 | cancer | NOTCH2 | not provided | |
null | cancer | NOTCH2 | Alagille syndrome due to a NOTCH2 point mutation|Hajdu-Cheney syndrome | |
null | cancer | NOTCH2 | Alagille syndrome due to a NOTCH2 point mutation | |
rs2101145406 | cancer | NOTCH2 | Keratoacanthoma | |
null | cancer | NOTCH2 | Alagille syndrome due to a NOTCH2 point mutation | |
null | cancer | NOTCH2 | NOTCH2-related disorder | |
rs1557826721 | cancer | NOTCH2 | not provided | |
rs1553200134 | cancer | NOTCH2 | not provided | |
null | cancer | NOTCH2 | Alagille syndrome due to a NOTCH2 point mutation|Hajdu-Cheney syndrome | |
rs2526313922 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs1553202301 | cancer | NOTCH2 | not provided | |
null | cancer | NOTCH2 | Alagille syndrome due to a NOTCH2 point mutation|Hajdu-Cheney syndrome | |
rs782059779 | cancer | NOTCH2 | Hajdu-Cheney syndrome | |
rs782598895 | cancer | NOTCH2 | KA-like vemurafenib-induced squamous lesions | |
rs777520196 | cancer | RIT1 | Noonan syndrome and Noonan-related syndrome|not provided|Megalencephaly-capillary malformation-polymicrogyria syndrome|Noonan syndrome 8 | |
rs672601335 | cancer | RIT1 | RIT1-related disorder|Noonan syndrome and Noonan-related syndrome|Cardiovascular phenotype|Noonan syndrome 8|not provided|RASopathy|Noonan syndrome|Noonan syndrome 1 | |
rs2102584825 | cancer | RIT1 | Non-immune hydrops fetalis | |
rs483352822 | cancer | RIT1 | Inborn genetic diseases|not provided|Noonan syndrome 8|RASopathy | |
null | cancer | RIT1 | Noonan syndrome 8|not provided | |
rs1557960039 | cancer | RIT1 | Noonan syndrome and Noonan-related syndrome|Noonan syndrome 8|RASopathy|Fetal anomalies with a likely genetic cause|not provided|Noonan syndrome | |
rs869025197 | cancer | RIT1 | RIT1-related disorder|Noonan syndrome and Noonan-related syndrome|Noonan syndrome 8|not provided|Noonan syndrome | |
null | cancer | RIT1 | Noonan syndrome 8 | |
rs886041414 | cancer | RIT1 | Noonan syndrome and Noonan-related syndrome|Noonan syndrome 8|not provided | |
rs869025196 | cancer | RIT1 | Cardiovascular phenotype|Noonan syndrome 8|not provided|RASopathy|Noonan syndrome | |
rs869025195 | cancer | RIT1 | Inborn genetic diseases|not provided|Noonan syndrome 8|Noonan syndrome|Noonan syndrome 1|RASopathy | |
rs730881014 | cancer | RIT1 | RIT1-related disorder|Congenital heart disease|Noonan syndrome|Noonan syndrome and Noonan-related syndrome|not provided|Noonan syndrome 8|RASopathy|Non-immune hydrops fetalis | |
rs868208063 | cancer | RIT1 | RIT1-related disorder|Noonan syndrome 8|RASopathy|not provided | |
rs869025194 | cancer | RIT1 | Noonan syndrome and Noonan-related syndrome|Cardiovascular phenotype|Noonan syndrome 8|Noonan syndrome|not provided|RASopathy | |
rs869025193 | cancer | RIT1 | Noonan syndrome and Noonan-related syndrome|Inborn genetic diseases|RIT1-related disorder|Noonan syndrome 8|not provided|Noonan syndrome|RASopathy | |
rs869025192 | cancer | RIT1 | Noonan syndrome 8|not provided|Noonan syndrome | |
rs1673398956 | cancer | RIT1 | Noonan syndrome 8|not provided|Noonan syndrome | |
rs1673399238 | cancer | RIT1 | Cardiovascular phenotype|Noonan syndrome 8|not provided | |
rs869025191 | cancer | RIT1 | Noonan syndrome 8|not provided|Noonan syndrome 1 | |
rs672601334 | cancer | RIT1 | RIT1-related disorder|Cardiovascular phenotype|Noonan syndrome and Noonan-related syndrome|Noonan syndrome 8|not provided|RASopathy|Noonan syndrome|Noonan syndrome 1 | |
null | cancer | RIT1 | Noonan syndrome 8 | |
rs869025189 | cancer | RIT1 | Noonan syndrome|RASopathy|Noonan syndrome 8|not provided | |
rs1571999498 | cancer | RIT1 | Noonan syndrome 1|RIT1-related disorder|Noonan syndrome 8 | |
null | cancer | RIT1 | RIT1-related disorder | |
rs1557962794 | cancer | RIT1 | Noonan syndrome 8|Noonan syndrome 1|not provided | |
rs869312687 | cancer | RIT1 | Noonan syndrome 8 | |
rs1655612629 | cancer | NTRK1 | Hereditary insensitivity to pain with anhidrosis | |
null | cancer | NTRK1 | Hereditary insensitivity to pain with anhidrosis | |
rs2102878838 | cancer | NTRK1 | Hereditary insensitivity to pain with anhidrosis | |
rs2102878843 | cancer | NTRK1 | Hereditary insensitivity to pain with anhidrosis | |
null | cancer | NTRK1 | Hereditary insensitivity to pain with anhidrosis | |
rs2525557872 | cancer | NTRK1 | Hereditary insensitivity to pain with anhidrosis | |
null | cancer | NTRK1 | Hereditary insensitivity to pain with anhidrosis | |
null | cancer | NTRK1 | Hereditary insensitivity to pain with anhidrosis | |
rs1131691595 | cancer | NTRK1 | not provided | |
rs1174707423 | cancer | NTRK1 | Hereditary insensitivity to pain with anhidrosis | |
rs1558095864 | cancer | NTRK1 | Hereditary insensitivity to pain with anhidrosis | |
null | cancer | NTRK1 | Hereditary insensitivity to pain with anhidrosis |
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