Search Genes

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                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7436",
                "gene_name": "methylenetetrahydrofolate reductase",
                "omim_gene": [
                    "607093"
                ],
                "alias_name": null,
                "gene_symbol": "MTHFR",
                "hgnc_symbol": "MTHFR",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "1:11845780-11866977",
                            "ensembl_id": "ENSG00000177000"
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                "hgnc_date_symbol_changed": "1994-07-15"
            },
            "entity_type": "gene",
            "entity_name": "MTHFR",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
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                "21555636",
                "27604308",
                "27604308"
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                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services",
                "Emory Genetics Laboratory",
                "Expert Review Green",
                "Expert Review"
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                "Homocystinuria due to MTHFR deficiency\t236250"
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                "id": 109,
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                "name": "Cerebral folate deficiency",
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                "version_created": "2017-11-05T02:37:20.047324Z",
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                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "HCP1",
                    "MGC9564",
                    "PCFT"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30521",
                "gene_name": "solute carrier family 46 member 1",
                "omim_gene": [
                    "611672"
                ],
                "alias_name": [
                    "heme carrier protein 1",
                    "proton-coupled folate transporter"
                ],
                "gene_symbol": "SLC46A1",
                "hgnc_symbol": "SLC46A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:26721661-26734215",
                            "ensembl_id": "ENSG00000076351"
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                            "location": "17:28394756-28407197",
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                },
                "hgnc_date_symbol_changed": "2007-03-29"
            },
            "entity_type": "gene",
            "entity_name": "SLC46A1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
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                "21333572",
                "27604308"
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                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
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                "Emory Genetics Laboratory",
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                "Expert Review"
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            "phenotypes": [
                "Folate malabsorption, hereditary\t229050"
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        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3791",
                "gene_name": "folate receptor 1",
                "omim_gene": [
                    "136430"
                ],
                "alias_name": [
                    "folate receptor alpha"
                ],
                "gene_symbol": "FOLR1",
                "hgnc_symbol": "FOLR1",
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                    "GRch37": {
                        "82": {
                            "location": "11:71900602-71907345",
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                    }
                },
                "hgnc_date_symbol_changed": "1991-08-08"
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            "entity_type": "gene",
            "entity_name": "FOLR1",
            "confidence_level": "3",
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                "27604308",
                "27743887",
                "27328863"
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                "Neurodegeneration due to cerebral folate transport deficiency, 613068"
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            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2861",
                "gene_name": "dihydrofolate reductase",
                "omim_gene": [
                    "126060"
                ],
                "alias_name": null,
                "gene_symbol": "DHFR",
                "hgnc_symbol": "DHFR",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:79922047-79950802",
                            "ensembl_id": "ENSG00000228716"
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                    },
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                            "location": "5:80626228-80654983",
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                    }
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                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "DHFR",
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            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
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                "21310276",
                "21310277",
                "27604308"
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                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Expert Review Green",
                "Expert Review"
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            "phenotypes": [
                "Megaloblastic anemia due to dihydrofolate reductase deficiency\t613839"
            ],
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                "version_created": "2017-11-05T02:37:20.047324Z",
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DHAPAT",
                    "DAPAT",
                    "DAP-AT"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4416",
                "gene_name": "glyceronephosphate O-acyltransferase",
                "omim_gene": [
                    "602744"
                ],
                "alias_name": [
                    "glycerone-phosphate O-acyltransferase",
                    "dihydroxyacetone phosphate acyltransferase"
                ],
                "gene_symbol": "GNPAT",
                "hgnc_symbol": "GNPAT",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:231376953-231413719",
                            "ensembl_id": "ENSG00000116906"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:231241207-231277973",
                            "ensembl_id": "ENSG00000116906"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-10-29"
            },
            "entity_type": "gene",
            "entity_name": "GNPAT",
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            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Rhizomelic Chondrodysplasia Punctata",
                "Chondrodysplasia punctata, rhizomelic, type 2, 222765",
                "Rhizomelic chondrodysplasia punctata type 2"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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                "id": 30,
                "hash_id": "554a0ac9bb5a167e4ccd1ec0",
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                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PTS2R",
                    "RD"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8860",
                "gene_name": "peroxisomal biogenesis factor 7",
                "omim_gene": [
                    "601757"
                ],
                "alias_name": [
                    "Refsum disease"
                ],
                "gene_symbol": "PEX7",
                "hgnc_symbol": "PEX7",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:137143717-137235075",
                            "ensembl_id": "ENSG00000112357"
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                    },
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                            "location": "6:136822564-136913937",
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                "hgnc_date_symbol_changed": "1997-05-22"
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            "entity_type": "gene",
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                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
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                "Illumina TruGenome Clinical Sequencing Services"
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                "Rhizomelic chondrodysplasia punctata, type 1, 215100"
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                "id": 30,
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                    {
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            },
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        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:719",
                "gene_name": "arylsulfatase E (chondrodysplasia punctata 1)",
                "omim_gene": [
                    "300180"
                ],
                "alias_name": null,
                "gene_symbol": "ARSE",
                "hgnc_symbol": "ARSE",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:2852699-2886286",
                            "ensembl_id": "ENSG00000157399"
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                    "GRch38": {
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                            "location": "X:2934632-2968310",
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                },
                "hgnc_date_symbol_changed": "1995-04-26"
            },
            "entity_type": "gene",
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                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "phenotypes": [
                "Chondrodysplasia punctata, X-linked recessive, 302950",
                "X-linked recessive chondrodysplasia punctata",
                "CHONDRODYSPLASIA PUNCTATA 1, X-LINKED"
            ],
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                ]
            },
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        },
        {
            "gene_data": {
                "alias": [
                    "ADHAPS",
                    "ADAS",
                    "ALDHPSY",
                    "ADPS",
                    "ADAP-S"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:327",
                "gene_name": "alkylglycerone phosphate synthase",
                "omim_gene": [
                    "603051"
                ],
                "alias_name": null,
                "gene_symbol": "AGPS",
                "hgnc_symbol": "AGPS",
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                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:178257372-178408564",
                            "ensembl_id": "ENSG00000018510"
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                    },
                    "GRch38": {
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                "hgnc_date_symbol_changed": "1998-10-14"
            },
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                "Expert Review Green",
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                "Rhizomelic chondrodysplasia punctata, type 3, 600121"
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                    {
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        },
        {
            "gene_data": {
                "alias": [
                    "MGC16824"
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                "hgnc_id": "HGNC:24641",
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                "alias_name": null,
                "gene_symbol": "C16orf62",
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                            "location": "16:19566562-19718115",
                            "ensembl_id": "ENSG00000103544"
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                "31712251"
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                "Expert Review Amber",
                "Literature"
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                "3C/Ritscher-Schinzel-like syndrome"
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        {
            "gene_data": {
                "alias": [
                    "CPX",
                    "CPXD",
                    "CHO2"
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                "omim_gene": [
                    "300205"
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                "alias_name": [
                    "3-beta-hydroxysteroid-delta-8,delta-7-isomerase",
                    "Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)",
                    "sterol 8-isomerase"
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                "gene_symbol": "EBP",
                "hgnc_symbol": "EBP",
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                    "GRch37": {
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                            "location": "X:48379546-48387104",
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                "X-linked dominant chondrodysplasia punctata",
                "MEND syndrome"
            ],
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                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
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                ]
            },
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        {
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                    "HOXHB9",
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                "biotype": "protein_coding",
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            "entity_type": "gene",
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                "hgnc_symbol": "T",
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            "entity_type": "gene",
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        {
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        {
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                "hgnc_id": "HGNC:12829",
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                "omim_gene": [
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                "alias_name": [
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                "hgnc_symbol": "XRCC2",
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                ]
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        },
        {
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                    "CHK2",
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                "gene_name": "checkpoint kinase 2",
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                "gene_symbol": "CHEK2",
                "hgnc_symbol": "CHEK2",
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                    },
                    "GRch38": {
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                "gene_name": "phosphomevalonate kinase",
                "omim_gene": [
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                "ensembl_genes": {
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                "POROKERATOSIS OF MIBELLI"
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        {
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                "hgnc_id": "HGNC:6427",
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                "omim_gene": [
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                ],
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                "hgnc_symbol": "KRT17",
                "hgnc_release": "2017-11-03T00:00:00",
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                },
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                    }
                ]
            },
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                "hgnc_id": "HGNC:4284",
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                "omim_gene": [
                    "121011"
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                "alias_name": [
                    "connexin 26"
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                "gene_symbol": "GJB2",
                "hgnc_symbol": "GJB2",
                "hgnc_release": "2017-11-03T00:00:00",
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                            "ensembl_id": "ENSG00000165474"
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                "hgnc_date_symbol_changed": "1990-02-12"
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            "entity_type": "gene",
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                "hgnc_id": "HGNC:17091",
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                "alias_name": null,
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                "hgnc_symbol": "NCSTN",
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                            "location": "1:160313062-160328742",
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                    "zcyto18",
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