Mercurial > repos > nathandunn > monarchinitiative
annotate test-data/variants-for-diseases-intersection.tsv @ 8:15016fee2bc4 draft
planemo upload commit 00e0e60deed9cc2ef83d47a3182cd6c84b8f5b41
| author | nathandunn |
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| date | Mon, 22 Aug 2016 12:53:55 -0400 |
| parents | 61d8060bf2ed |
| children | 5fa1f0ca69cc |
| rev | line source |
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61d8060bf2ed
planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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1 ClinVarVariant:56171 NM_015268.3(DNAJC13):c.2564A>G (p.Asn855Ser) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:168600 Parkinson Disease, Late-Onset PMID:24218364 http://data.monarchinitiative.org/ttl/clinvar.ttl direct |
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61d8060bf2ed
planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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2 OMIM:602544.0011 PARK2, ALA82GLU OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred |
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61d8060bf2ed
planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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3 OMIM:602544.0005 PARK2, EX3DEL OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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4 dbSNP:rs34637584 rs34637584-A NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred |
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61d8060bf2ed
planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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5 OMIM:606463.0003 GBA, ASN370SER OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred |
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61d8060bf2ed
planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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6 OMIM:163890.0003 SNCA, TRIPLICATION OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred |
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61d8060bf2ed
planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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7 ClinVarVariant:9726 m.3397A>G NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:168600 Parkinson Disease, Late-Onset PMID:7624338 http://data.monarchinitiative.org/ttl/clinvar.ttl direct |
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61d8060bf2ed
planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents:
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8 ClinVarVariant:29936 NM_012084.3(GLUD2):c.1492T>G (p.Ser498Ala) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:168600 Parkinson Disease, Late-Onset PMID:19826450 http://data.monarchinitiative.org/ttl/clinvar.ttl direct |
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61d8060bf2ed
planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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diff
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9 OMIM:602544.0022 PARK2, EX5-6 DEL OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred |
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61d8060bf2ed
planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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10 OMIM:602544.0014 PARK2, 1-BP DEL, 255A OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred |
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61d8060bf2ed
planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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11 OMIM:602544.0017 PARK2, ARG275TRP OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred |
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61d8060bf2ed
planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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0
diff
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12 ClinVarVariant:225276 NM_198578.3(LRRK2):c.4321C>A (p.Arg1441Ser) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:168600 Parkinson Disease, Late-Onset PMID:27111571 http://data.monarchinitiative.org/ttl/clinvar.ttl direct |