Mercurial > repos > nathandunn > monarchinitiative
comparison test-data/genes-for-phenotype.tsv @ 9:5fa1f0ca69cc draft default tip
planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
| author | nathandunn |
|---|---|
| date | Sun, 25 Sep 2016 21:59:32 -0400 |
| parents | 61d8060bf2ed |
| children |
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| 8:15016fee2bc4 | 9:5fa1f0ca69cc |
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| 1 NCBIGene:6872 TAF1 NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304|ECO:0000220 traceable author statement used in manual assertion|sequencing assay evidence PMID:17273961 http://data.monarchinitiative.org/ttl/omim.ttl|http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred | 1 NCBIGene:26058 GIGYF2 NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000269|ECO:0000220 experimental evidence used in manual assertion|sequencing assay evidence PMID:18358451 http://data.monarchinitiative.org/ttl/omim.ttl|http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
| 2 NCBIGene:7054 TH NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304|ECO:0000322|ECO:0000220 traceable author statement used in manual assertion|imported manually asserted information used in automatic assertion|sequencing assay evidence PMID:20198643|PMID:10407773|PMID:11281275|PMID:11246459|PMID:7814018|PMID:8817341|PMID:11246459|PMID:11246459|PMID:11246459|PMID:9235905|PMID:9732974|PMID:17696123|PMID:9732974|PMID:24753243|PMID:10407773|PMID:9703425|PMID:10407773|PMID:8528210|PMID:10585338|PMID:10407773|PMID:20430833 http://data.monarchinitiative.org/ttl/orphanet.ttl|http://data.monarchinitiative.org/ttl/omim.ttl|http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred | |
| 3 NCBIGene:27429 HTRA2 NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304|ECO:0000220 traceable author statement used in manual assertion|sequencing assay evidence http://data.monarchinitiative.org/ttl/omim.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred | |
| 4 NCBIGene:120892 LRRK2 NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000220|ECO:0000501 sequencing assay evidence|evidence used in automatic assertion PMID:17215492|PMID:16401756|PMID:23075850|PMID:19283415|PMID:17353388|PMID:17050822|PMID:19020907|PMID:20008657|PMID:18591067|PMID:16172858|PMID:18981379|PMID:15541309|PMID:16436782|PMID:16269541|PMID:9276200|PMID:15680457|PMID:17060595|PMID:19308469|PMID:15726496|PMID:16960813|PMID:15541309|PMID:16966502|PMID:19667187|PMID:15880653|PMID:15852371|PMID:16436781|PMID:16269541|PMID:16533964|PMID:15811455|PMID:16321986|PMID:15541308|PMID:18704525|PMID:16157909|PMID:16533964|PMID:15680456|PMID:16003110|PMID:15541308|PMID:15541309|PMID:15541309|PMID:19020907|PMID:15929036|PMID:17060595|PMID:21115957|PMID:16240353|PMID:16728648|PMID:16003110|PMID:7898705|PMID:16311269|PMID:15680455|PMID:16145815|PMID:17938369|PMID:15732108 http://data.monarchinitiative.org/ttl/omim.ttl|http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred | |
| 5 NCBIGene:291 SLC25A4 NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000322|ECO:0000501 imported manually asserted information used in automatic assertion|evidence used in automatic assertion http://data.monarchinitiative.org/ttl/orphanet.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred | |
| 6 NCBIGene:56652 PEO1 NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000322|ECO:0000501 imported manually asserted information used in automatic assertion|evidence used in automatic assertion http://data.monarchinitiative.org/ttl/orphanet.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred | |
| 7 NCBIGene:23400 ATP13A2 NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304|ECO:0000322|ECO:0000220|ECO:0000220 traceable author statement used in manual assertion|imported manually asserted information used in automatic assertion|sequencing assay evidence|sequencing assay evidence PMID:17485642|PMID:495089|PMID:20853184|PMID:16964263|PMID:21724849|PMID:26633545|PMID:22388936|PMID:26633545|PMID:21094623|PMID:21724849|PMID:16964263|PMID:21724849|PMID:20310007|PMID:16964263 http://data.monarchinitiative.org/ttl/orphanet.ttl|http://data.monarchinitiative.org/ttl/omim.ttl|http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred | |
| 8 NCBIGene:2643 GCH1 NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304|ECO:0000322|ECO:0000220 traceable author statement used in manual assertion|imported manually asserted information used in automatic assertion|sequencing assay evidence PMID:10732814|PMID:7730309|PMID:7730309|PMID:9576537|PMID:10208576|PMID:9576537|PMID:7730309|PMID:9667588|PMID:7730309|PMID:11359069|PMID:11026444|PMID:11486899|PMID:17111153|PMID:12391354|PMID:10732814|PMID:9576537|PMID:10078749 http://data.monarchinitiative.org/ttl/orphanet.ttl|http://data.monarchinitiative.org/ttl/omim.ttl|http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred | |
| 9 NCBIGene:5428 POLG NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501|ECO:0000322|ECO:0000220 evidence used in automatic assertion|imported manually asserted information used in automatic assertion|sequencing assay evidence PMID:12210792|PMID:15351195|PMID:11431686|PMID:12210792|PMID:2725645|PMID:2067633|PMID:14467368|PMID:17420318|PMID:11897778 http://data.monarchinitiative.org/ttl/orphanet.ttl|http://data.monarchinitiative.org/ttl/omim.ttl|http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred | |
| 10 NCBIGene:25793 FBXO7 NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501|ECO:0000220|ECO:0000322 evidence used in automatic assertion|sequencing assay evidence|imported manually asserted information used in automatic assertion PMID:18513678|PMID:19038853|PMID:19038853|PMID:19038853 http://data.monarchinitiative.org/ttl/orphanet.ttl|http://data.monarchinitiative.org/ttl/omim.ttl|http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred | |
| 11 NCBIGene:11232 POLG2 NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000322|ECO:0000501 imported manually asserted information used in automatic assertion|evidence used in automatic assertion http://data.monarchinitiative.org/ttl/orphanet.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred | |
| 12 NCBIGene:50484 RRM2B NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000322|ECO:0000501 imported manually asserted information used in automatic assertion|evidence used in automatic assertion http://data.monarchinitiative.org/ttl/orphanet.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred | |
| 2 NCBIGene:6622 SNCA NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000322|ECO:0000501 imported manually asserted information used in automatic assertion|evidence used in automatic assertion http://data.monarchinitiative.org/ttl/orphanet.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred | 13 NCBIGene:6622 SNCA NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000322|ECO:0000501 imported manually asserted information used in automatic assertion|evidence used in automatic assertion http://data.monarchinitiative.org/ttl/orphanet.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
| 3 NCBIGene:120892 LRRK2 NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000220|ECO:0000501 sequencing assay evidence|evidence used in automatic assertion PMID:16533964|PMID:18704525|PMID:23075850|PMID:21115957|PMID:16728648|PMID:17353388|PMID:9276200|PMID:16003110|PMID:15680455|PMID:15541309|PMID:19020907|PMID:16311269|PMID:15541308|PMID:16003110|PMID:16436782|PMID:17050822|PMID:15929036|PMID:16436781|PMID:16269541|PMID:19020907|PMID:17215492|PMID:18591067|PMID:20008657|PMID:15852371|PMID:17060595|PMID:16401756|PMID:16966502|PMID:15541309|PMID:19667187|PMID:17938369|PMID:15541309|PMID:7898705|PMID:16533964|PMID:15811455|PMID:19283415|PMID:15732108|PMID:15680456|PMID:19308469|PMID:15880653|PMID:16321986|PMID:16157909|PMID:15541309|PMID:18981379|PMID:16240353|PMID:15541308|PMID:17060595|PMID:16269541|PMID:16960813|PMID:16145815|PMID:15680457|PMID:16172858|PMID:15726496 http://data.monarchinitiative.org/ttl/omim.ttl|http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred | 14 NCBIGene:6872 TAF1 NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000322|ECO:0000220|ECO:0000304 imported manually asserted information used in automatic assertion|sequencing assay evidence|traceable author statement used in manual assertion PMID:17273961 http://data.monarchinitiative.org/ttl/orphanet.ttl|http://data.monarchinitiative.org/ttl/omim.ttl|http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
| 4 NCBIGene:27429 HTRA2 NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000220|ECO:0000304 sequencing assay evidence|traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/omim.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred | |
| 5 NCBIGene:7054 TH NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000322|ECO:0000304|ECO:0000220 imported manually asserted information used in automatic assertion|traceable author statement used in manual assertion|sequencing assay evidence PMID:17696123|PMID:10407773|PMID:8817341|PMID:9235905|PMID:7814018|PMID:20198643|PMID:10407773|PMID:9703425|PMID:9732974|PMID:20430833|PMID:9732974|PMID:11246459|PMID:24753243|PMID:10407773|PMID:11246459|PMID:11246459|PMID:10407773|PMID:11281275|PMID:10585338|PMID:11246459|PMID:8528210 http://data.monarchinitiative.org/ttl/orphanet.ttl|http://data.monarchinitiative.org/ttl/omim.ttl|http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred | |
| 6 NCBIGene:23400 ATP13A2 NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000322|ECO:0000220|ECO:0000220|ECO:0000304 imported manually asserted information used in automatic assertion|sequencing assay evidence|sequencing assay evidence|traceable author statement used in manual assertion PMID:21724849|PMID:16964263|PMID:22388936|PMID:16964263|PMID:26633545|PMID:26633545|PMID:495089|PMID:20853184|PMID:21724849|PMID:16964263|PMID:21094623|PMID:17485642|PMID:21724849|PMID:20310007 http://data.monarchinitiative.org/ttl/orphanet.ttl|http://data.monarchinitiative.org/ttl/omim.ttl|http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred | |
| 7 NCBIGene:25793 FBXO7 NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000322|ECO:0000220|ECO:0000501 imported manually asserted information used in automatic assertion|sequencing assay evidence|evidence used in automatic assertion PMID:18513678|PMID:19038853|PMID:19038853|PMID:19038853 http://data.monarchinitiative.org/ttl/orphanet.ttl|http://data.monarchinitiative.org/ttl/omim.ttl|http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred | |
| 8 NCBIGene:5428 POLG NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000220|ECO:0000501 sequencing assay evidence|evidence used in automatic assertion PMID:17420318|PMID:15351195|PMID:12210792|PMID:2067633|PMID:12210792|PMID:14467368|PMID:11897778|PMID:11431686|PMID:2725645 http://data.monarchinitiative.org/ttl/omim.ttl|http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred | |
| 9 NCBIGene:2643 GCH1 NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000220|ECO:0000304 sequencing assay evidence|traceable author statement used in manual assertion PMID:9667588|PMID:11486899|PMID:17111153|PMID:9576537|PMID:11359069|PMID:12391354|PMID:11026444|PMID:9576537|PMID:9576537|PMID:7874165|PMID:7874165|PMID:10732814|PMID:10078749|PMID:10732814|PMID:7874165|PMID:7874165|PMID:10208576 http://data.monarchinitiative.org/ttl/omim.ttl|http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred | |
| 10 NCBIGene:26058 GIGYF2 NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000220|ECO:0000269 sequencing assay evidence|experimental evidence used in manual assertion PMID:18358451 http://data.monarchinitiative.org/ttl/omim.ttl|http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |