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