rsid
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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