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 | AKT3 | AKT3 related microcephaly | |
rs2147921624 | cancer | AKT3 | not provided | |
rs2147921662 | cancer | AKT3 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
rs397514606 | cancer | AKT3 | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
rs1553370260 | cancer | MYCN | Feingold syndrome type 1 | |
rs886041290 | cancer | MYCN | not provided | |
rs1662700407 | cancer | MYCN | Feingold syndrome type 1 | |
rs780080562 | cancer | MYCN | Feingold syndrome type 1|not provided | |
rs2103323892 | cancer | MYCN | Feingold syndrome type 1 | |
null | cancer | MYCN | not provided | |
rs2103324037 | cancer | MYCN | Megalencephaly-polydactyly syndrome|See cases | |
rs2103324191 | cancer | MYCN | not provided | |
rs113994115 | cancer | MYCN | Feingold syndrome type 1 | |
rs1558533831 | cancer | MYCN | not provided | |
rs121913667 | cancer | MYCN | Feingold syndrome type 1 | |
rs1572217314 | cancer | MYCN | Feingold syndrome type 1 | |
rs2527925277 | cancer | MYCN | MYCN-related disorder | |
rs2527925425 | cancer | MYCN | not provided | |
rs2527925514 | cancer | MYCN | Inborn genetic diseases | |
rs2527925687 | cancer | MYCN | Feingold syndrome type 1 | |
rs2103324867 | cancer | MYCN | Feingold syndrome type 1|not provided | |
null | cancer | MYCN | Feingold syndrome type 1|Megalencephaly-polydactyly syndrome | |
rs886041801 | cancer | MYCN | not provided|Inborn genetic diseases | |
rs1572217717 | cancer | MYCN | not provided | |
rs886039427 | cancer | MYCN | not provided | |
null | cancer | MYCN | not provided | |
rs2103325472 | cancer | MYCN | Feingold syndrome type 1 | |
rs2527927539 | cancer | MYCN | not provided|Feingold syndrome type 1 | |
rs1558534266 | cancer | MYCN | not provided|Feingold syndrome type 1 | |
rs2527927639 | cancer | MYCN | Feingold syndrome type 1 | |
null | cancer | MYCN | Feingold syndrome type 1 | |
rs2527928565 | cancer | MYCN | Feingold syndrome type 1 | |
rs1558534492 | cancer | MYCN | not provided | |
rs1553370518 | cancer | MYCN | not provided | |
null | cancer | MYCN | MYCN-related disorder | |
rs2103330255 | cancer | MYCN | Feingold syndrome type 1 | |
rs1662837763 | cancer | MYCN | Inborn genetic diseases | |
rs886042150 | cancer | MYCN | not provided | |
null | cancer | MYCN | Feingold syndrome type 1 | |
rs2103330395 | cancer | MYCN | not provided | |
rs1572220856 | cancer | MYCN | Feingold syndrome type 1 | |
null | cancer | MYCN | not provided | |
rs1553370918 | cancer | MYCN | Feingold syndrome type 1 | |
rs2527936786 | cancer | MYCN | MYCN-related disorder | |
rs2527936984 | cancer | MYCN | Inborn genetic diseases | |
rs2103330798 | cancer | MYCN | not provided | |
rs759103701 | cancer | MYCN | not provided|Feingold syndrome type 1 | |
null | cancer | MYCN | Feingold syndrome type 1 | |
rs367962377 | cancer | MYCN | Feingold syndrome type 1 | |
rs1662848905 | cancer | MYCN | Inborn genetic diseases | |
rs2103331059 | cancer | MYCN | not provided | |
rs1553370963 | cancer | MYCN | Feingold syndrome type 1 | |
rs1662852731 | cancer | MYCN | not provided | |
rs754137452 | cancer | MYCN | not provided|Feingold syndrome type 1|Megalencephaly-polydactyly syndrome | |
rs886039428 | cancer | MYCN | not provided | |
rs1572221449 | cancer | MYCN | not provided | |
rs998174759 | cancer | MYCN | not provided | |
rs1572221505 | cancer | MYCN | not provided | |
rs1553370992 | cancer | MYCN | not provided | |
rs1662856733 | cancer | MYCN | Feingold syndrome type 1 | |
null | cancer | MYCN | Feingold syndrome type 1 | |
null | cancer | MYCN | Feingold syndrome type 1 | |
rs104893647 | cancer | MYCN | Feingold syndrome type 1 | |
rs104893646 | cancer | MYCN | Feingold syndrome|not provided|Feingold syndrome type 1 | |
rs104893648 | cancer | MYCN | Feingold syndrome|Feingold syndrome type 1 | |
rs1057517770 | cancer | MYCN | not provided | |
rs1553371008 | cancer | MYCN | not provided | |
rs2103331674 | cancer | MYCN | Feingold syndrome type 1 | |
rs2527938896 | cancer | MYCN | Feingold syndrome type 1 | |
rs2527938946 | cancer | MYCN | not provided | |
rs2103332022 | cancer | MYCN | not provided | |
rs1057521724 | cancer | MYCN | not provided | |
rs1064794600 | cancer | MYCN | not provided | |
rs1673065619 | cancer | DNMT3A | DNMT3A-related disorder|not provided | |
rs1558650788 | cancer | DNMT3A | Intellectual disability | |
rs149095705 | cancer | DNMT3A | Inborn genetic diseases|Autism spectrum disorder|Tatton-Brown-Rahman overgrowth syndrome|not provided|EBV-positive nodal T- and NK-cell lymphoma | |
rs1558650888 | cancer | DNMT3A | Glioblastoma | |
rs587777510 | cancer | DNMT3A | Tatton-Brown-Rahman overgrowth syndrome | |
rs960019580 | cancer | DNMT3A | Neurodevelopmental disorder | |
rs750515748 | cancer | DNMT3A | Tatton-Brown-Rahman overgrowth syndrome | |
null | cancer | DNMT3A | Tatton-Brown-Rahman overgrowth syndrome | |
rs1573291900 | cancer | DNMT3A | not provided | |
rs147001633 | cancer | DNMT3A | Inborn genetic diseases|Tatton-Brown-Rahman overgrowth syndrome|not specified|Abnormality of the nervous system|EBV-positive nodal T- and NK-cell lymphoma|DNMT3A-related disorder|not provided|Acute myeloid leukemia|Clonal Cytopenia of Undetermined Significance|Intellectual disability | |
rs377577594 | cancer | DNMT3A | DNMT3A-related disorder|Heyn-Sproul-Jackson syndrome|Neurodevelopmental disorder|Tatton-Brown-Rahman overgrowth syndrome|not provided|EBV-positive nodal T- and NK-cell lymphoma|Inborn genetic diseases|Acute myeloid leukemia | |
rs2465314655 | cancer | DNMT3A | Tatton-Brown-Rahman overgrowth syndrome | |
null | cancer | DNMT3A | Inborn genetic diseases | |
rs766506181 | cancer | DNMT3A | Tatton-Brown-Rahman overgrowth syndrome | |
null | cancer | DNMT3A | not provided | |
rs764855628 | cancer | DNMT3A | Tatton-Brown-Rahman overgrowth syndrome | |
null | cancer | DNMT3A | Tatton-Brown-Rahman overgrowth syndrome | |
rs376830288 | cancer | DNMT3A | Intellectual disability|Inborn genetic diseases | |
rs1558653090 | cancer | DNMT3A | Tatton-Brown-Rahman overgrowth syndrome | |
rs781139634 | cancer | DNMT3A | Inborn genetic diseases | |
rs771174392 | cancer | DNMT3A | Acute myeloid leukemia|Tatton-Brown-Rahman overgrowth syndrome | |
rs1573297136 | cancer | DNMT3A | Tatton-Brown-Rahman overgrowth syndrome | |
null | cancer | DNMT3A | Tatton-Brown-Rahman overgrowth syndrome | |
rs775933506 | cancer | DNMT3A | Tatton-Brown-Rahman overgrowth syndrome | |
rs762213449 | cancer | DNMT3A | not provided | |
rs1200243711 | cancer | DNMT3A | not provided | |
null | cancer | DNMT3A | Tatton-Brown-Rahman overgrowth syndrome |
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