Skip to content

Commit

Permalink
premature add of ClinVarXML
Browse files Browse the repository at this point in the history
  • Loading branch information
TomConlin committed Apr 5, 2016
1 parent 8fb5b86 commit 8cd9fd6
Show file tree
Hide file tree
Showing 2 changed files with 474 additions and 0 deletions.
60 changes: 60 additions & 0 deletions dipper/clinvar_alpha_word_ontology.txt
Original file line number Diff line number Diff line change
@@ -0,0 +1,60 @@
# Format:
# the string to match, some tabs, the ontology identifier to return.
# post octothorp comments and empty lines are ignored


# Variant (Subject) Sequence Types
single nucleotide variant SO:0001483
Deletion SO:0000159
copy number gain SO:0001742
copy number loss SO:0001743
Duplication SO:1000035
Insertion SO:0000667
Indel SO:1000032
Variation SO:0001059
Microsatellite GENO:0000847
protein only GENO:0000848
inversion SO:1000036
Translocation SO:0000199
Tandem duplication SO:1000173
Complex SO:0001784
fusion SO:0001882
Structural variant SO:0001785
NT expansion SO:1000039
short repeat GENO:0000846
undetermined variant SO:0001059

# Association types
benign GENO:0000843 # benign
Benign GENO:0000843 # benign
conflicting data from submitters GENO:0000845 # uncertain significance
Likely benign GENO:0000844 # likely benign
likely pathogenic GENO:0000840 # pathogenic
Likely pathogenic GENO:0000840 # pathogenic
no known pathogenicity GENO:0000845 # uncertain significance
non-pathogenic GENO:0000845 # uncertain significance
pathogenic GENO:0000840 # pathogenic
Pathogenic GENO:0000840 # pathogenic
Pathogenic/Likely pathogenic GENO:0000840 # pathogenic
pathologic GENO:0000840 # pathogenic
probable-non-pathogenic GENO:0000845 # uncertain significance
probable-pathogenic GENO:0000841 # likely pathogenic
probably not pathogenic GENO:0000845 # uncertain significance
Suspected Benign GENO:0000844 # likely benign
uncertain GENO:0000845 # uncertain significance
Uncertain significance GENO:0000845 # uncertain significance
unknown GENO:0000845 # uncertain significance
Unknown GENO:0000845 # uncertain significance
variant of unknown significance GENO:0000845 # uncertain significance
MUT GENO:0000845 # uncertain significance
likely pathogenic - adrenal pheochromocytoma GENO:0000841 # likely pathogenic

# SEPIO
clinical testing SEPIO:0000067
literature only SEPIO:0000080
reference population SEPIO:0000102
research SEPIO:0000066
curation SEPIO:0000081
in vitro SEPIO:0000073
in vivo SEPIO:0000074
case-control SEPIO:0000071
Loading

0 comments on commit 8cd9fd6

Please sign in to comment.