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comparison test-data/variants-for-diseases-intersection.tsv @ 9:5fa1f0ca69cc draft default tip

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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
author nathandunn
date Sun, 25 Sep 2016 21:59:32 -0400
parents 61d8060bf2ed
children
comparison
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8:15016fee2bc4 9:5fa1f0ca69cc
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 1 ClinVarVariant:29936 NM_012084.3(GLUD2):c.1492T>G (p.Ser498Ala) NCBITaxon:9606 Homo sapiens NCBIGene:2747 GLUD2 GENO:0000840 pathogenic_for_condition OMIM:168600 Parkinson Disease, Late-Onset PMID:19826450 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
2 OMIM:602544.0011 PARK2, ALA82GLU OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred 2 OMIM:602544.0022 PARK2, EX5-6 DEL NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
3 OMIM:602544.0005 PARK2, EX3DEL OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred 3 ClinVarVariant:9726 m.3397A>G NCBITaxon:9606 Homo sapiens NCBIGene:4535 ND1 GENO:0000840 pathogenic_for_condition OMIM:168600 Parkinson Disease, Late-Onset PMID:7624338 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
4 dbSNP:rs34637584 rs34637584-A NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred 4 OMIM:163890.0003 SNCA, TRIPLICATION NCBITaxon:9606 Homo sapiens NCBIGene:6622 SNCA OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
5 OMIM:606463.0003 GBA, ASN370SER OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred 5 OMIM:602544.0005 PARK2, EX3DEL NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
6 OMIM:163890.0003 SNCA, TRIPLICATION OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred 6 ClinVarVariant:56171 NM_015268.3(DNAJC13):c.2564A>G (p.Asn855Ser) NCBITaxon:9606 Homo sapiens NCBIGene:23317 DNAJC13 GENO:0000840 pathogenic_for_condition OMIM:168600 Parkinson Disease, Late-Onset PMID:24218364 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
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 7 OMIM:602544.0011 PARK2, ALA82GLU NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
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 8 dbSNP:rs34637584 rs34637584-A NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
9 OMIM:602544.0022 PARK2, EX5-6 DEL OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred 9 OMIM:606463.0003 GBA, ASN370SER NCBITaxon:9606 Homo sapiens NCBIGene:2629 GBA OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
10 OMIM:602544.0014 PARK2, 1-BP DEL, 255A OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred 10 OMIM:602544.0017 PARK2, ARG275TRP NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
11 OMIM:602544.0017 PARK2, ARG275TRP OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred 11 OMIM:602544.0014 PARK2, 1-BP DEL, 255A NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
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 12 ClinVarVariant:225276 NM_198578.3(LRRK2):c.4321C>A (p.Arg1441Ser) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 GENO:0000840 pathogenic_for_condition OMIM:168600 Parkinson Disease, Late-Onset PMID:27111571 http://data.monarchinitiative.org/ttl/clinvar.ttl direct