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 |
|---|---|---|---|---|
rs727505381 | cancer | SOS1 | not provided|RASopathy|Noonan syndrome 4|Fibromatosis, gingival, 1|Noonan syndrome | |
rs727505093 | cancer | SOS1 | Noonan syndrome 4|Fibromatosis, gingival, 1|not provided|Noonan syndrome 1|Noonan syndrome and Noonan-related syndrome | |
rs1057517918 | cancer | SOS1 | not provided | |
rs2529034729 | cancer | SOS1 | Noonan syndrome | |
rs267607079 | cancer | SOS1 | Noonan syndrome and Noonan-related syndrome|Cardiovascular phenotype|not provided|RASopathy|Noonan syndrome 4|Fibromatosis, gingival, 1|Noonan syndrome|See cases | |
rs1572830219 | cancer | SOS1 | Noonan syndrome 1 | |
rs397517154 | cancer | SOS1 | Noonan syndrome and Noonan-related syndrome|not provided|RASopathy|Noonan syndrome | |
rs137852814 | cancer | SOS1 | not provided|RASopathy|Noonan syndrome and Noonan-related syndrome | |
rs397517153 | cancer | SOS1 | SOS1-related disorder|Cardiovascular phenotype|not provided|RASopathy|Noonan syndrome|Noonan syndrome 4|Noonan syndrome 1 | |
rs730881045 | cancer | SOS1 | not provided|RASopathy|Noonan syndrome|Noonan syndrome 4 | |
null | cancer | SOS1 | Noonan syndrome 4 | |
rs397517149 | cancer | SOS1 | Cardiovascular phenotype|Noonan syndrome and Noonan-related syndrome|not provided|Noonan syndrome 4|Fibromatosis, gingival, 1|RASopathy|Noonan syndrome|Noonan syndrome 1 | |
rs2529036943 | cancer | SOS1 | Noonan syndrome | |
null | cancer | SOS1 | not provided | |
rs730881044 | cancer | SOS1 | not provided|Fibromatosis, gingival, 1|Noonan syndrome 4 | |
rs2529037375 | cancer | SOS1 | RASopathy | |
null | cancer | SOS1 | RASopathy | |
null | cancer | SOS1 | Noonan syndrome 4 | |
null | cancer | SOS1 | Noonan syndrome 4 | |
rs2529037535 | cancer | SOS1 | not provided | |
rs727504295 | cancer | SOS1 | RASopathy|not provided|Noonan syndrome|Noonan syndrome 4 | |
rs1057517861 | cancer | SOS1 | not provided | |
null | cancer | SOS1 | not provided | |
rs397517150 | cancer | SOS1 | Noonan syndrome|Fibromatosis, gingival, 1|Noonan syndrome 4|not provided|RASopathy | |
rs730881048 | cancer | SOS1 | RASopathy | |
rs397517148 | cancer | SOS1 | Cardiovascular phenotype|not specified|not provided|RASopathy|Noonan syndrome 4|Fibromatosis, gingival, 1 | |
rs397517147 | cancer | SOS1 | Noonan syndrome and Noonan-related syndrome|not provided|RASopathy|Noonan syndrome|Noonan syndrome 1|Noonan syndrome 4 | |
null | cancer | SOS1 | RASopathy | |
rs2529037917 | cancer | SOS1 | RASopathy | |
rs267607080 | cancer | SOS1 | not provided|RASopathy|Noonan syndrome|Noonan syndrome 4 | |
rs1572830693 | cancer | SOS1 | Noonan syndrome | |
null | cancer | SOS1 | Noonan syndrome 4 | |
rs730881041 | cancer | SOS1 | not provided | |
rs397517146 | cancer | SOS1 | Cardiovascular phenotype|not provided|RASopathy|Noonan syndrome|Noonan syndrome 4 | |
rs2124562542 | cancer | SOS1 | Noonan syndrome 4 | |
rs397517180 | cancer | SOS1 | Noonan syndrome and Noonan-related syndrome|not provided|RASopathy|Noonan syndrome|Noonan syndrome 4 | |
null | cancer | SOS1 | not provided | |
rs137852813 | cancer | SOS1 | Cardiovascular phenotype|not provided|RASopathy|Noonan syndrome|Noonan syndrome 1|Noonan syndrome 4 | |
null | cancer | SOS1 | Noonan syndrome 4 | |
rs137852812 | cancer | SOS1 | RASopathy | |
rs2124596942 | cancer | SOS1 | RASopathy | |
rs1057519963 | cancer | SOS1 | Noonan syndrome 4 | |
rs886041696 | cancer | SOS1 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | |
rs397517174 | cancer | SOS1 | Noonan syndrome and Noonan-related syndrome|not provided|Noonan syndrome | |
rs397517172 | cancer | SOS1 | SOS1-related disorder|Cardiovascular phenotype|not provided|not specified|RASopathy|Noonan syndrome|Noonan syndrome 4|Neonatal hypotonia | |
rs1671229414 | cancer | SOS1 | 46,XY partial gonadal dysgenesis | |
rs886041923 | cancer | SOS1 | not provided | |
rs397517164 | cancer | SOS1 | Noonan syndrome and Noonan-related syndrome|not provided|Noonan syndrome|RASopathy|Noonan syndrome 4 | |
rs1553362937 | cancer | SOS1 | Noonan syndrome 4 | |
rs2465361618 | cancer | SOS1 | RASopathy | |
rs730881054 | cancer | SOS1 | RASopathy|Noonan syndrome 4|Fibromatosis, gingival, 1|Noonan syndrome | |
rs786205522 | cancer | SOS1 | not provided | |
null | cancer | EPCAM | Congenital diarrhea 5 with tufting enteropathy | |
rs752808238 | cancer | EPCAM | Familial cancer of breast|EPCAM-related disorder|Gastric cancer | |
rs2465443167 | cancer | EPCAM | Gastric cancer | |
rs2465443187 | cancer | EPCAM | Gastric cancer | |
rs747738988 | cancer | EPCAM | not provided|Congenital diarrhea 5 with tufting enteropathy | |
rs2465443330 | cancer | EPCAM | Gastric cancer | |
rs1385489500 | cancer | EPCAM | not provided|EPCAM-related disorder | |
rs755113500 | cancer | EPCAM | Gastric cancer | |
null | cancer | EPCAM | Congenital diarrhea 5 with tufting enteropathy | |
rs2465455020 | cancer | EPCAM | Gastric cancer | |
rs878854485 | cancer | EPCAM | not provided | |
rs2103745906 | cancer | EPCAM | not provided | |
rs2465455403 | cancer | EPCAM | Gastric cancer | |
rs147494515 | cancer | EPCAM | Gastric cancer | |
rs2103746911 | cancer | EPCAM | not provided | |
rs267606785 | cancer | EPCAM | Congenital diarrhea 5 with tufting enteropathy | |
null | cancer | EPCAM | Congenital diarrhea 5 with tufting enteropathy | |
null | cancer | EPCAM | Congenital diarrhea 5 with tufting enteropathy | |
rs1324088403 | cancer | EPCAM | Congenital diarrhea 5 with tufting enteropathy|not provided | |
rs1346393896 | cancer | EPCAM | not provided | |
rs2465457194 | cancer | EPCAM | Gastric cancer | |
rs1553342984 | cancer | EPCAM | Congenital diarrhea 5 with tufting enteropathy | |
rs2103747818 | cancer | EPCAM | Gastric cancer | |
rs397514661 | cancer | EPCAM | Gastric cancer|Congenital diarrhea 5 with tufting enteropathy | |
rs878854488 | cancer | EPCAM | not provided | |
rs987919056 | cancer | EPCAM | Congenital diarrhea 5 with tufting enteropathy | |
rs606231203 | cancer | EPCAM | Gastric cancer|Hereditary cancer-predisposing syndrome|Congenital diarrhea 5 with tufting enteropathy | |
rs606231281 | cancer | EPCAM | Congenital diarrhea 5 with tufting enteropathy|not provided | |
rs606231204 | cancer | EPCAM | EPCAM-related disorder|not provided|Congenital diarrhea 5 with tufting enteropathy | |
rs878854491 | cancer | EPCAM | not provided | |
null | cancer | EPCAM | Congenital diarrhea 5 with tufting enteropathy | |
rs376155665 | cancer | EPCAM | EPCAM-related disorder|Congenital diarrhea 5 with tufting enteropathy|Lynch syndrome 8|not provided|Familial cancer of breast | |
null | cancer | EPCAM | Congenital diarrhea 5 with tufting enteropathy | |
null | cancer | EPCAM | Congenital diarrhea 5 with tufting enteropathy | |
null | cancer | EPCAM | Congenital diarrhea 5 with tufting enteropathy | |
null | cancer | EPCAM | Congenital diarrhea 5 with tufting enteropathy | |
null | cancer | EPCAM | Congenital diarrhea 5 with tufting enteropathy | |
rs1558438591 | cancer | EPCAM | Hereditary nonpolyposis colorectal neoplasms | |
rs863224453 | cancer | EPCAM | not provided | |
rs751264236 | cancer | EPCAM | Colonic neoplasm | |
rs2103770769 | cancer | EPCAM | Lynch syndrome 1 | |
rs878854496 | cancer | EPCAM | not provided | |
null | cancer | EPCAM | Lynch syndrome 8 | |
rs587779182 | cancer | MSH2 | Lynch syndrome | |
rs2465576077 | cancer | MSH2 | Hereditary cancer-predisposing syndrome|Lynch syndrome 1 | |
rs730881775 | cancer | MSH2 | Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome|not provided|Lynch syndrome 1 | |
rs1558451119 | cancer | MSH2 | not provided|Lynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms | |
rs2465576976 | cancer | MSH2 | Hereditary cancer-predisposing syndrome |
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