Split (1)

train · 1.83M rows

rsid large_stringlengths 5 12 ⌀	module large_stringclasses 9 values	gene large_stringlengths 0 18 ⌀	phenotype large_stringlengths 0 1.02k ⌀
null	cancer	MTOR	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
rs968817513	cancer	MTOR	CEBALID syndrome
rs1057519915	cancer	MTOR	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
rs1057524044	cancer	MTOR	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome\|not provided
rs1085307113	cancer	MTOR	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes\|CEBALID syndrome\|Isolated focal cortical dysplasia type II
rs587777900	cancer	MTOR	Inborn genetic diseases\|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes\|CEBALID syndrome\|Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome\|not provided
rs1553171141	cancer	MTOR	CEBALID syndrome\|Inborn genetic diseases\|Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
rs1557739557	cancer	MTOR	Macrocephaly\|Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome\|not provided
rs2100323377	cancer	MTOR	not provided
rs878855328	cancer	MTOR	not provided\|Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
null	cancer	MTOR	not provided
rs587777894	cancer	MTOR	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes\|Isolated focal cortical dysplasia type II\|not provided
rs1057519917	cancer	MTOR	not provided
rs2100396600	cancer	MTOR	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
null	cancer	MTOR	MTOR-related disorder
rs2100402606	cancer	MTOR	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
rs1642915400	cancer	MTOR	CEBALID syndrome
rs587777893	cancer	MTOR	Isolated focal cortical dysplasia type II\|CEBALID syndrome\|not provided\|Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome\|MTOR-related disorder\|MTOR-related megalencephaly and pigmentary mosaicism in skin
null	cancer	MTOR	Isolated focal cortical dysplasia type II
rs2100414567	cancer	MTOR	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
null	cancer	MTOR	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
rs2100423836	cancer	MTOR	not provided
rs869312666	cancer	MTOR	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome\|not provided
rs2100423871	cancer	MTOR	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome\|Overgrowth syndrome
rs1643024516	cancer	MTOR	not provided
null	cancer	MTOR	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
rs863225264	cancer	MTOR	CEBALID syndrome\|Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome\|Rare genetic intellectual disability\|Isolated focal cortical dysplasia type II\|Inborn genetic diseases\|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes\|not provided\|Intelle...
rs2100433281	cancer	MTOR	not provided
rs2100477650	cancer	MTOR	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
null	cancer	MTOR	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
rs869312671	cancer	MTOR	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
null	cancer	MTOR	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
rs1644090272	cancer	MTOR	CEBALID syndrome
null	cancer	MTOR	not provided
rs2100566800	cancer	MTOR	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome\|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
rs786205165	cancer	MTOR	not provided\|Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
rs1057519914	cancer	MTOR	Hemimegalencephaly\|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
null	cancer	MTOR	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
rs1057519779	cancer	MTOR	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes\|Isolated focal cortical dysplasia type II
rs1644347782	cancer	MTOR	Isolated focal cortical dysplasia type II
rs1085307114	cancer	MTOR	Isolated focal cortical dysplasia type II
rs1644348291	cancer	MTOR	CEBALID syndrome
null	cancer	MTOR	Isolated focal cortical dysplasia type II
rs2100609915	cancer	MTOR	Isolated focal cortical dysplasia type II
null	cancer	MTOR	Inborn genetic diseases
rs2522990355	cancer	MTOR	not provided
rs2100983961	cancer	MTOR	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
null	cancer	SPEN	Inborn genetic diseases
null	cancer	SPEN	Radio-Tartaglia syndrome
rs2522927850	cancer	SPEN	Inborn genetic diseases
null	cancer	SPEN	Radio-Tartaglia syndrome
rs2522936339	cancer	SPEN	Radio-Tartaglia syndrome
null	cancer	SPEN	Radio-Tartaglia syndrome
rs772105874	cancer	SPEN	Radio-Tartaglia syndrome\|not provided
rs2070991188	cancer	SPEN	Radio-Tartaglia syndrome
null	cancer	SPEN	Radio-Tartaglia syndrome
rs2148733237	cancer	SPEN	not provided
rs2523072296	cancer	SPEN	SPEN-related disorder
rs2523072429	cancer	SPEN	Radio-Tartaglia syndrome
rs2523072505	cancer	SPEN	Radio-Tartaglia syndrome
rs2148737783	cancer	SPEN	not provided
rs2071187754	cancer	SPEN	Radio-Tartaglia syndrome
rs2523073518	cancer	SPEN	not provided
rs2148737960	cancer	SPEN	not provided
null	cancer	SPEN	Inborn genetic diseases
rs764595221	cancer	SPEN	not provided\|Neurodevelopmental abnormality\|Inborn genetic diseases\|Radio-Tartaglia syndrome
rs2523075382	cancer	SPEN	SPEN-related disorder
null	cancer	SPEN	Radio-Tartaglia syndrome
rs2148738318	cancer	SPEN	Radio-Tartaglia syndrome
rs2148738489	cancer	SPEN	not provided
null	cancer	SPEN	Radio-Tartaglia syndrome
rs2148738538	cancer	SPEN	not provided
rs2148738629	cancer	SPEN	not provided
null	cancer	SPEN	Radio-Tartaglia syndrome
rs2071203144	cancer	SPEN	not provided\|Radio-Tartaglia syndrome
rs1458311779	cancer	SPEN	not provided
null	cancer	SPEN	Radio-Tartaglia syndrome
rs770680602	cancer	SPEN	not provided\|Inborn genetic diseases
rs2071205857	cancer	SPEN	not provided\|Inborn genetic diseases
rs2071207771	cancer	SPEN	Inborn genetic diseases
null	cancer	SPEN	Radio-Tartaglia syndrome
rs2148739431	cancer	SPEN	Radio-Tartaglia syndrome
null	cancer	SPEN	Radio-Tartaglia syndrome
rs769218008	cancer	SPEN	not provided
null	cancer	SPEN	not provided
rs2523080343	cancer	SPEN	Radio-Tartaglia syndrome
rs2523081142	cancer	SPEN	Radio-Tartaglia syndrome
null	cancer	SPEN	Radio-Tartaglia syndrome
rs2523081439	cancer	SPEN	Radio-Tartaglia syndrome
null	cancer	SPEN	Inborn genetic diseases
rs746738922	cancer	SPEN	Radio-Tartaglia syndrome\|not provided
null	cancer	SPEN	Inborn genetic diseases
rs2148739946	cancer	SPEN	Neurodevelopmental delay
null	cancer	SPEN	Inborn genetic diseases
rs2523082174	cancer	SPEN	Myoepithelial tumor
rs2148740239	cancer	SPEN	not provided
null	cancer	SPEN	not provided
rs2148740737	cancer	SPEN	Radio-Tartaglia syndrome
null	cancer	SPEN	Radio-Tartaglia syndrome
rs2148740780	cancer	SPEN	Neurodevelopmental delay

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