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"ER-alpha"
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"biotype": "protein_coding",
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"gene_name": "estrogen receptor 1",
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],
"alias_name": [
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"estrogen receptor alpha",
"oestrogen receptor alpha",
"E2 receptor alpha"
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"hgnc_symbol": "ESR1",
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"ensembl_genes": {
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},
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}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"penetrance": "Complete",
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"{HDL response to hormone replacement, augmented}",
"{Migraine, susceptibility to}, 157300",
"{Atherosclerosis, susceptibility to}",
"{Myocardial infarction, susceptibility to}, 608446",
"{Breast cancer}, 114480 (1)"
],
"transcript": null,
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"entity_type": "gene",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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],
"gene_data": {
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],
"biotype": "protein_coding",
"hgnc_id": "HGNC:7527",
"gene_name": "mutY DNA glycosylase",
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],
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"ensembl_genes": {
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"ensembl_id": "ENSG00000132781"
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},
"GRch38": {
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}
},
"hgnc_date_symbol_changed": "1997-10-24"
},
"penetrance": "Complete",
"phenotypes": [
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"transcript": null,
"entity_name": "MUTYH",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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],
"gene_data": {
"alias": [
"ATV",
"AT-V2",
"AT-V1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:7652",
"gene_name": "nibrin",
"omim_gene": [
"602667"
],
"alias_name": null,
"gene_symbol": "NBN",
"hgnc_symbol": "NBN",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "8:90945564-91015456",
"ensembl_id": "ENSG00000104320"
}
},
"GRch38": {
"90": {
"location": "8:89933336-90003228",
"ensembl_id": "ENSG00000104320"
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}
},
"hgnc_date_symbol_changed": "2005-06-02"
},
"penetrance": "Complete",
"phenotypes": [
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"transcript": null,
"entity_name": "NBN",
"entity_type": "gene",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"Radboud University Medical Center, Nijmegen",
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"gene_data": {
"alias": [
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"FANCN"
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"hgnc_id": "HGNC:26144",
"gene_name": "partner and localizer of BRCA2",
"omim_gene": [
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"alias_name": [
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"hgnc_symbol": "PALB2",
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"GRch37": {
"82": {
"location": "16:23614488-23652631",
"ensembl_id": "ENSG00000083093"
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},
"GRch38": {
"90": {
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}
},
"hgnc_date_symbol_changed": "2007-01-15"
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"phenotypes": [
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"{Breast cancer, susceptibility to}, 114480",
"{Pancreatic cancer, susceptibility to, 3}, 613348",
"High Risk Breast Cancer",
"Breast and Ovarian Cancer"
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"transcript": null,
"entity_name": "PALB2",
"entity_type": "gene",
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},
{
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"PP2C-DELTA"
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"hgnc_symbol": "PPM1D",
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"ensembl_genes": {
"GRch37": {
"82": {
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},
"GRch38": {
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}
},
"hgnc_date_symbol_changed": "1998-10-14"
},
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"transcript": null,
"entity_name": "PPM1D",
"entity_type": "gene",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Emory Genetics Laboratory"
],
"gene_data": {
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"TEP1",
"PTEN1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9588",
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"omim_gene": [
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"alias_name": [
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"hgnc_symbol": "PTEN",
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"82": {
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},
"GRch38": {
"90": {
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}
},
"hgnc_date_symbol_changed": "1997-04-21"
},
"penetrance": "Complete",
"phenotypes": [
"High Risk Breast Cancer",
"Breast and Ovarian Cancer"
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"transcript": null,
"entity_name": "PTEN",
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"publications": [
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},
{
"tags": [],
"evidence": [
"Radboud University Medical Center, Nijmegen"
],
"gene_data": {
"alias": [
"hHR54",
"hRAD54",
"RAD54A"
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"biotype": "protein_coding",
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},
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}
},
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"Lymphoma, non-Hodgkin,somatic, 605027",
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],
"transcript": null,
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},
{
"tags": [],
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"gene_data": {
"alias": [
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],
"biotype": "protein_coding",
"hgnc_id": "HGNC:17271",
"gene_name": "RAS related 2",
"omim_gene": [
"600098"
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"alias_name": null,
"gene_symbol": "RRAS2",
"hgnc_symbol": "RRAS2",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:14299472-14386052",
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},
"GRch38": {
"90": {
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}
},
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"phenotypes": [
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"transcript": null,
"entity_name": "RRAS2",
"entity_type": "gene",
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},
{
"tags": [],
"evidence": [
"Emory Genetics Laboratory"
],
"gene_data": {
"alias": [
"PJS",
"LKB1"
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"biotype": "protein_coding",
"hgnc_id": "HGNC:11389",
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"82": {
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},
"GRch38": {
"90": {
"location": "19:1177558-1228435",
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}
},
"hgnc_date_symbol_changed": "1998-01-21"
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},
{
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],
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},
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}
},
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{
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"biotype": "protein_coding",
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},
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}
},
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}
],
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},
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{
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{
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}