GRASP Python API Documentation

A Simple GRASP (grasp.nhlbi.nih.gov) API based on SQLAlchemy and Pandas.

Author Michael D Dacre <mike.dacre@gmail.com>
License MIT License, made at Stanford, use as you wish.
Version 0.4.0b1
https://api.codacy.com/project/badge/Grade/6a6be14b83894d76b440e853ff7e5cd3 https://readthedocs.org/projects/grasp/badge/?version=latest https://img.shields.io/badge/python%20versions-3.4%203.5%203.6-brightgreen.svg

For an introduction see the github readme

For a community discussion of the data itself see the wiki. This contains some important disclaimers regarding the quality of the data in GRASP itself, that fundamentally limit the utility of this package.

Basic Usage

This module contains a Python 3 API to work with the GRASP database. The database must be downloaded and initialized locally. The default is to use an sqlite backend, but postgresql or mysql may be used also; these two are slower to initialize (longer write times), but they may be faster on indexed reads.

The GRASP project is a SNP-level index of over 2000 GWAS datasets. It is very useful, but difficult to batch query as study descriptions are heterogeneous and there are more than 9 million rows. By putting this information into a relational database, it is easy to pull out bite-sized chunks of data to analyze with pandas. Be aware that GRASP does not include all of the SNPs that they should (see the wiki for info), so use this software with caution.

Commonly queried columns are indexed within the database for fast retrieval. A typical query for a single phenotype category returns several million SNPs in about 10 seconds, which can then be analyzed with pandas.

To read more about GRASP, visit the official page.

For a community discussion of the data itself see the wiki. This contains some important disclaimers regarding the quality of the data in GRASP itself, that fundamentally limit the utility of this package.

For complete API documentation, go to the documentation site

For a nice little example of usage, see the BMI Jupyter Notebook

Installation

The best way to install is with pip:

pip install https://github.com/MikeDacre/grasp/archive/v0.4.0b1.tar.gz

When this code reaches version 0.4.1, it will be placed on pypi.

Alternatively, you can clone the repo and install with setuptools:

git clone https://github.com/MikeDacre/grasp.git
cd grasp
python ./setup.py install --user

This code requires a grasp database. Currently sqlite/postgresql/mysql are supported. Mysql and postgresql can be remote (but must be set up with this tool), sqlite is local.

Database configuration is stored in a config file that lives by default in ~/.grasp. This path is set in config.py and can be changed there is needed.

A script, grasp, is provided in bin and should automatically be installed to your PATH. It contains functions to set up your database config and to initialize the grasp database easily, making the initial steps trivial.

To set up your database configuration, run:

grasp config --init

This will prompt you for your database config options and create a file at ~/.grasp with those options saved.

You can now initialize the grasp database:

grasp init study_file grasp_file

The study file is available in this repository (grasp2_studies.txt.gz) It is just a copy of the official GRASP List of Studies converted to text and with an additional index that provides a numeric index for the non pubmed indexed studies.

Both files can be gzipped or bzipped.

The grasp file is the raw unzipped file from the project page: GRASP2fullDataset

The database takes about 90 minutes to build on a desktop machine and uses about 3GB of space. The majority of the build time is spent parsing dates, but because the dates are encoded in the SNP table, and the formatting varies, this step is required.

Usage

The code is based on SQLAlchemy, so you should read their ORM Query tutorial to know how to use this well.

It is important to note that the point of this software is to make bulk data access from the GRASP DB easy, SQLAlchemy makes this very easy indeed. However, to do complex comparisons, SQLAlchemy is very slow. As such, the best way to use this software is to use SQLAlchemy functions to bulk retrieve study lists, and then to directly get a pandas dataframe of SNPs from those lists.

Tables are defined in grasp.tables Database setup functions are in grasp.db Query tools for easy data manipulation are in grasp.query.

Tables

This module provides 6 tables:

Study, Phenotype, PhenoCats, Platform, Population, and SNP (as well as several association tables)

Querying

The functions in grasp.query are very helpful in automating common queries.

The simplest way to get a dataframe from SQLAlchemy is like this:

df = pandas.read_sql(session.query(SNP).statement)

Note that if you use this exact query, the dataframe will be too big to be useful. To get a much more useful dataframe:

studies = grasp.query.get_studies(pheno_cats='t2d', primary_pop='European')
df = grasp.query.get_snps(studies)

It is important to note that there are three ways of getting phenotype information: - The Phenotype table, which lists the primary phenotype for every study - The PhenoCats table, which lists the GRASP curated phenotype categories,

each Study has several of these.
  • The phenotype_desc column in the SNP table, this is a poorly curated column directly from the full dataset, it roughly corresponds to the information in the Phenotype table, but the correspondance is not exact due to an abundance of typos and slightly differently typed information.

Example Workflow

from grasp import db
from grasp import tables as t
from grasp import query as q
s, e = db.get_session()

# Print a list of all phenotypes (also use with populations, but not with SNPs (too many to display))
s.query(t.Phenotype).all()

# Filter the list
s.query(t.Phenotype).filter(t.Phenotype.phenotype.like('%diabetes%').all()

# Get a dictionary of studies to review
eur_t2d = get_studies(only_disc_pop='eur', primary_phenotype='Type II Diabetes Mellitus', dictionary=True)

# Filter those by using eur.pop() to remove unwanted studies, and then get the SNPs as a dataframe
eur_snps_df = get_snps(eur, pandas=True)

# Do the same thing for the african population
afr_t2d = get_studies(only_disc_pop='afr', primary_phenotype='Type II Diabetes Mellitus', dictionary=True)
afr.pop('Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study.')
afr_snps_df = get_snps(afr, pandas=True)

# Collapse the matrices (take median of pvalue) and filter by resulting pvalue
eur_snps_df = q.collapse_dataframe(eur_snps_df, mechanism='median', pvalue_filter=5e-8)
afr_snps_df = q.collapse_dataframe(afr_snps_df, mechanism='median', pvalue_filter=5e-8)

# The new dataframes are indexed by 'chr:pos'

# Plot the overlapping SNPs
snps = q.intersect_overlapping_series(eur_snps_df.pval_median, afr_snps_df.pval_median)
snps.plot()

ToDo

  • Add more functions to grasp script, including lookup by position or range of positions

GRASP Console Script

A Simple GRASP (grasp.nhlbi.nih.gov) API based on SQLAlchemy and Pandas

Author Michael D Dacre <mike.dacre@gmail.com>
Organization Stanford University
License MIT License, use as you wish
Created 2016-10-08
Version 0.4.0b1
Last modified: 2016-10-18 00:38

This is the front-end to a python grasp api, intended to allow easy database creation and simple querying. For most of the functions of this module, you will need to call the module directly.

usage: grasp [-h] {search,conf,info,init} ...
Sub-commands:
search (s, lookup)

Query database for variants by location or id

Query for SNPs in the database. By default returns a tab-delimeted list of SNPs with the following columns: ‘id’, ‘snpid’, ‘study_snpid’, ‘chrom’, ‘pos’, ‘phenotype’, ‘pval’ The –extra flag adds these columns: ‘InGene’, ‘InMiRNA’, ‘inLincRNa’, ‘LSSNP’ The –study-info flag adds these columns: ‘study_id (PMID)’, ‘title’ The –db-snp flag uses the myvariant API to pull additional data from db_snp.

usage: grasp search [-h] [--extra] [--study-info] [--db-snp] [--pandas] [-o]
                    [--path]
                    query
Positional arguments:
query rsID, chrom:loc or chrom:start-end
Options:
--extra Add some extra columns to output
--study-info Include study title and PMID
--db-snp Add dbSNP info to output
--pandas Write output as a pandas dataframe
-o, --out File to write to, default STDOUT.
--path PATH to write files to
conf (config)

Manage local config

usage: grasp conf [-h]
                  [--db {sqlite,postgresql,mysql} | --get-path | --set-path PATH | --init]
Options:
--db

Set the current database platform.

Possible choices: sqlite, postgresql, mysql

--get-path Change the sqlite file path
--set-path Change the sqlite file path
--init Initialize the config with default settings. Will ERASE your old config!
info

Display database info

Write data summaries (also found on the wiki) to a file or the console. Choices: all: Will write everything to separate rst files, ignores all other flags except `–path` phenotypes: All primary phenotypes. phenotype_categories: All phenotype categories. populations: All primary populations. population_flags: All population flags. snp_columns: All SNP columns. study_columns: All Study columns.

usage: grasp info [-h] [-o] [--path]
                  {population_flags,phenotypes,all,populations,phenotype_categories,study_columns,snp_columns}
Positional arguments:
display

Choice of item to display, if all, results are written to independant rst files, and optional args are ignored

Possible choices: population_flags, phenotypes, all, populations, phenotype_categories, study_columns, snp_columns

Options:
-o, --out File to write to, default STDOUT.
--path PATH to write files to
init

Initialize the database

usage: grasp init [-h] [-n] study_file grasp_file
Positional arguments:
study_file GRASP study file from: github.com/MikeDacre/grasp/blob/master/grasp2_studies.txt
grasp_file GRASP tab delimeted file
Options:
-n, --no-progress
 Do not display a progress bar

Library (API Documentation)

This code is intended to be primarily used as a library, and works best when used in an interactive python session (e.g. with jupyter) alongside pandas. Many of the query functions in this library returns pandas dataframes.

Below is a complete documentation of the API for this library. The functions in grasp.query will be the most interesting for most users wanting to do common db queries.

Tables are defined in grasp.tables, functions for connecting to and building the database are in grasp.db. grasp.info contains simple documentation for all of the tables and phenotypes (used to build this documentation).

grasp.config handles the static database configuration at ~/.grasp, and grasp.ref is used to define module wide static objects, like dictionaries and the PopFlags class.

grasp.query

A mix of functions to make querying the database and analyzing the results faster.

Primary query functions:
get_studies():
Allows querying the Study table by a combination of population and phenotype variables.
get_snps():
Take a study list (possibly from get_studies) and return a SNP list or dataframe.
Helpful additional functions:
intersecting_phenos():
Return a list of phenotypes or phenotype categories present in all queried populations.
write_study_dict():
Write the dictionary returned from get_studies(dictionary=True) to a tab delimited file with extra data from the database.
Lookup functions:
lookup_rsid(), lookup_location() and lookup_studies() allow the querying of the database for specific SNPs and can return customized information on them.
MyVariant:
get_variant_info():
Use myvariant to get variant info for a list of SNPs.
DataFrame Manipulation:
collapse_dataframe():
Collapse a dataframe (such as that returned by get_snps()) to include only a single entry per SNP (collapsing multiple studies into one).
intersect_overlapping_series():
Merge two sets of pvalues (such as those from collapse_dataframe()) into a single merged dataframe with the original index and one column for each pvalue. Good for plotting.

get_studies

grasp.query.get_studies(primary_phenotype=None, pheno_cats=None, pheno_cats_alias=None, primary_pop=None, has_pop=None, only_pop=None, has_disc_pop=None, has_rep_pop=None, only_disc_pop=None, only_rep_pop=None, query=False, count=False, dictionary=False, pandas=False)[source]

Return a list of studies filtered by phenotype and population.

There are two ways to query both phenotype and population.

Phenotype:

GRASP provides a ‘primary phenotype’ for each study, which are fairly poorly curated. They also provide a list of phenotype categories, which are well curated. The problem with the categories is that there are multiple per study and some are to general to be useful. If using categories be sure to post filter the study list.

Note: I have made a list of aliases for the phenotype categories to make them easier to type. Use pheno_cats_alias for that.

Population:

Each study has a primary population (list available with ‘get_populations’) but some studies also have other populations in the cohort. GRASP indexes all population counts, so those can be used to query also. To query these use has_ or only_ (exclusive) parameters, you can query either discovery populations or replication populations. Note that you cannot provide both has_ and only_ parameters for the same population type.

For doing population specific analyses most of the time you will want the excl_disc_pop query.

Argument Description:

Phenotype Arguments are ‘primary_phenotype’, ‘pheno_cats’, and ‘pheno_cats_alias’.

Only provide one of pheno_cats or pheno_cats_alias

Population Arguments are primary_pop, has_pop, only_pop, has_disc_pop, has_rep_pop, only_disc_pop, only_rep_pop.

primary_pop is a simple argument, the others use bitwise flags for lookup.

has_pop and only_pop simpply combine both the discovery and replication population lookups.

The easiest way to use the has_ and only_ parameters is with the PopFlag object. It uses py-flags. For example:

pops = PopFlag.eur | PopFlag.afr

In addition you can provide a list of strings corresponding to PopFlag attributes.

Note: the only_ parameters work as ANDs, not ORs. So only_disc_pop=’eur|afr’ will return those studies that have BOTH european and african discovery populations, but no other discovery populations. On the other hand, has_ works as an OR, and will return any study with any of the specified populations.

Parameters:
  • primary_phenotype – Phenotype of interest, string or list of strings.
  • pheno_cats – Phenotype category of interest.
  • pheno_cats_alias – Phenotype category of interest.
  • primary_pop – Query the primary population, string or list of strings.
  • has_pop – Return all studies with these populations
  • only_pop – Return all studies with these populations
  • has_disc_pop – Return all studies with these discovery populations
  • has_rep_pop – Return all studies with these replication populations
  • only_disc_pop – Return all studies with ONLY these discovery populations
  • only_rep_pop – Return all studies with ONLY these replication populations
  • query – Return the query instead of the list of study objects.
  • count – Return a count of the number of studies.
  • dictionary – Return a dictionary of title->id for filtering.
  • pandas – Return a dataframe of study information instead of the list.
Returns:

A list of study objects, a query, or a dataframe.

get_snps

grasp.query.get_snps(studies, pandas=True)[source]

Return a list of SNPs in a single population in a single phenotype.

Studies:A list of studies.
Pandas:Return a dataframe instead of a list of SNP objects.
Returns:Either a DataFrame or list of SNP objects.

lookup_rsid

grasp.query.lookup_rsid(rsid, study=False, columns=None, pandas=False)[source]

Query database by rsID.

Parameters:
  • rsID (str) – An rsID or list of rsIDs
  • study (bool) – Include study info in the output.
  • columns (list) – A list of columns to include in the query. Default is all. List must be made up of column objects, e.g. [t.SNP.snpid, t.Study.id]
  • pandas (bool) – Return a dataframe instead of a list of SNPs
Returns:

List of SNP objects

Return type:

list

lookup_location

grasp.query.lookup_location(chrom, position, study=False, columns=None, pandas=False)[source]

Query database by location.

Parameters:
  • chrom (str) – The chromosome as an int or string (e.g. 1 or chr1)
  • position (int) – Either one location, a list of locations, or a range of locations, range can be expressed as a tuple of two ints, a range object, or a string of ‘int-int’
  • study (bool) – Include study info in the output.
  • columns (list) – A list of columns to include in the query. Default is all. List must be made up of column objects, e.g. [t.SNP.snpid, t.Study.id]
  • pandas (bool) – Return a dataframe instead of a list of SNPs
Returns:

List of SNP objects

Return type:

list

lookup_studies

grasp.query.lookup_studies(title=None, study_id=None, columns=None, pandas=False)[source]

Find all studies matching either title or id.

Parameters:
  • title (str) – The study title, string or list of strings.
  • study_id (int) – The row ID, usually the PMID, int or list of ints.
  • columns (list) – A list of columns to include in the query. Default is all. List must be made up of column objects, e.g. [t.SNP.snpid, t.Study.id]
  • pandas (bool) – Return a dataframe instead of a list of SNPs
Returns:

All matching studies as either a dataframe or a list

Return type:

DataFrame or list

get_variant_info

grasp.query.get_variant_info(snp_list, fields='dbsnp', pandas=True)[source]

Get variant info for a list of SNPs.

Parameters:
  • snp_list – A list of SNP objects or SNP rsIDs
  • fields – Choose fields to display from: docs.myvariant.info/en/latest/doc/data.html#available-fields Good choices are ‘dbsnp’, ‘clinvar’, or ‘gwassnps’ Can also use ‘grasp’ to get a different version of this info.
  • pandas – Return a dataframe instead of dictionary.
Returns:

A dictionary or a dataframe.

get_collapse_dataframe

grasp.query.collapse_dataframe(df, mechanism='median', pvalue_filter=None, protected_columns=None)[source]

Collapse a dataframe by chrom:location from get_snps.

Will use the mechanism defined by ‘mechanism’ to collapse a dataframe to one indexed by ‘chrom:location’ with pvalue and count only.

This function is agnostic to all dataframe columns other than:

['chrom', 'pos', 'snpid', 'pval']

All other columns are collapsed into a comma separated list, a string. ‘chrom’ and ‘pos’ are merged to become the new colon-separated index, snpid is maintained, and pval is merged using the function in ‘mechanism’.

Parameters:
  • df – A pandas dataframe, must have ‘chrom’, ‘pos’, ‘snpid’, and ‘pval’ columns.
  • mechanism – A numpy statistical function to use to collapse the pvalue, median or mean are the common ones.
  • pvalue_filter – After collapsing the dataframe, filter to only include pvalues less than this cutoff.
  • protected_columns – A list of column names that will be maintained as is, although all duplicates will be dropped (randomly). Only makes sense for columns that are identical for all studies of the same SNP.
Returns:

Indexed by chr:pos, contains flattened pvalue column, and

all original columns as a comma-separated list. Additionally contains a count and stddev (of pvalues) column. stddev is nan if count is 1.

Return type:

DataFrame

intersect_overlapping_series

grasp.query.intersect_overlapping_series(series1, series2, names=None, stats=True, plot=None, name=None)[source]

Plot all SNPs that overlap between two pvalue series.

Parameters:
  • series{1,2} (Series) – A pandas series object
  • names (list) – A list of two names to use for the resultant dataframes
  • stats (bool) – Print some stats on the intersection
  • plot (str) – Plot the resulting intersection, path to save figure to (must end in .pdf/.png). Numpy and Matplotlib are required.
  • name (str) – A name for the plot, optional.
Returns:

with the two series as columns

Return type:

DataFrame

write_study_dict

grasp.query.write_study_dict(study_dict, outfile)[source]

Write a study dictionary from get_studies(dictionary=True) to file.

Looks up studies in the Study table first.

Parameters:
  • study_dict (dict) – A dictionary of title=>id from the Study table.
  • outfile – A valid path to a file with write permission.
Outputs:
A tab delimited file of ID, Title, Author, Journal, Discovery Population, Replication Population, SNP_Count
Returns:None

grasp.tables

GRASP table descriptions in SQLAlchemy ORM.

These tables do not exist in the GRASP data, which is a single flat file. By separating the data into these tables querying is much more efficient.

This submodule should only be used for querying.

SNP

class grasp.tables.SNP(**kwargs)[source]

Bases: sqlalchemy.ext.declarative.api.Base

An SQLAlchemy Talble for GRASP SNPs.

Study and phenotype information are pushed to other tables to minimize table size and make querying easier.

Table Name:
snps
Columns:
Described in the columns attribute
int

The ID number of the SNP, usually the NHLBIkey

str

SNP loction expressed as ‘chr:pos’

hvgs_ids

A list of HGVS IDs for this SNP

columns

A dictionary of all columns ‘column_name’=>(‘type’, ‘desc’)

columns = OrderedDict([('id', ('BigInteger', 'NHLBIkey')), ('snpid', ('String', 'SNPid')), ('chrom', ('String', 'chr')), ('pos', ('Integer', 'pos')), ('pval', ('Float', 'Pvalue')), ('NHLBIkey', ('String', 'NHLBIkey')), ('HUPfield', ('String', 'HUPfield')), ('LastCurationDate', ('Date', 'LastCurationDate')), ('CreationDate', ('Date', 'CreationDate')), ('population_id', ('Integer', 'Primary')), ('population', ('relationship', 'Link')), ('study_id', ('Integer', 'Primary')), ('study', ('relationship', 'Link')), ('study_snpid', ('String', 'SNPid')), ('paper_loc', ('String', 'LocationWithinPaper')), ('phenotype_desc', ('String', 'Phenotype')), ('phenotype_cats', ('relationship', 'Link')), ('InGene', ('String', 'InGene')), ('NearestGene', ('String', 'NearestGene')), ('InLincRNA', ('String', 'InLincRNA')), ('InMiRNA', ('String', 'InMiRNA')), ('InMiRNABS', ('String', 'InMiRNABS')), ('dbSNPfxn', ('String', 'dbSNPfxn')), ('dbSNPMAF', ('String', 'dbSNPMAF')), ('dbSNPinfo', ('String', 'dbSNPalleles')), ('dbSNPvalidation', ('String', 'dbSNPvalidation')), ('dbSNPClinStatus', ('String', 'dbSNPClinStatus')), ('ORegAnno', ('String', 'ORegAnno')), ('ConservPredTFBS', ('String', 'ConservPredTFBS')), ('HumanEnhancer', ('String', 'HumanEnhancer')), ('RNAedit', ('String', 'RNAedit')), ('PolyPhen2', ('String', 'PolyPhen2')), ('SIFT', ('String', 'SIFT')), ('LSSNP', ('String', 'LS')), ('UniProt', ('String', 'UniProt')), ('EqtlMethMetabStudy', ('String', 'EqtlMethMetabStudy'))])

A description of all columns in this table.

display_columns(display_as='table', write=False)[source]

Return all columns in the table nicely formatted.

Display choices:
table: A formatted grid-like table tab: A tab delimited non-formatted version of table list: A string list of column names
Parameters:
  • display_as – {table,tab,list}
  • write – If true, print output to console, otherwise return string.
Returns:

A formatted string or None

get_columns(return_as='list')[source]

Return all columns in the table nicely formatted.

Display choices:
list: A python list of column names dictionary: A python dictionary of name=>desc long_dict: A python dictionary of name=>(type, desc)
Parameters:return_as – {table,tab,list,dictionary,long_dict,id_dict}
Returns:A list or dictionary
get_variant_info(fields='dbsnp', pandas=True)[source]

Use the myvariant API to get info about this SNP.

Note that this service can be very slow. It will be faster to query multiple SNPs.

Parameters:
Returns:

A dictionary or a dataframe.

hvgs_ids

The HVGS ID from myvariant.

snp_loc

Return a simple string containing the SNP location.

Study

class grasp.tables.Study(**kwargs)[source]

Bases: sqlalchemy.ext.declarative.api.Base

An SQLAlchemy table to store study information.

This table provides easy ways to query for SNPs by study information, including population and phenotype.

Note: disc_pop_flag and rep_pop_flag are integer representations of a bitwise flag describing population, defined in ref.PopFlag. To see the string representation of this property, lookup disc_pops or rep_pops.

Table Name:
studies
Columns:
Described in the columns attribute.
int

The integer ID number, usually the PMID, unless not indexed.

str

Summary data on this study.

len

The number of individuals in this study.

disc_pops

A string displaying the number of discovery poplations.

rep_pops

A string displaying the number of replication poplations.

columns

A dictionary of all columns ‘column_name’=>(‘type’, ‘desc’)

population_information

A multi-line string describing the populations in this study.

columns = OrderedDict([('id', ('Integer', 'id')), ('pmid', ('String', 'PubmedID')), ('title', ('String', 'Study')), ('journal', ('String', 'Journal')), ('author', ('String', '1st_author')), ('grasp_ver', ('Integer', 'GRASPversion?')), ('noresults', ('Boolean', 'No results flag')), ('results', ('Integer', '#results')), ('qtl', ('Boolean', 'IsEqtl/meQTL/pQTL/gQTL/Metabolmics?')), ('snps', ('relationship', 'Link to all SNPs in this study')), ('phenotype_id', ('Integer', 'ID of primary phenotype in Phenotype table')), ('phenotype', ('relationship', 'A link to the primary phenotype in the Phenotype table')), ('phenotype_cats', ('relationship', 'A link to all phenotype categories assigned in the PhenoCats table')), ('datepub', ('Date', 'DatePub')), ('in_nhgri', ('Boolean', 'In NHGRI GWAS catalog (8/26/14)?')), ('locations', ('String', 'Specific place(s) mentioned for samples')), ('mf', ('Boolean', 'Includes male/female only analyses in discovery and/or replication?')), ('mf_only', ('Boolean', 'Exclusively male or female study?')), ('platforms', ('relationship', 'Link to platforms in the Platform table. Platform [SNPs passing QC]')), ('snp_count', ('String', 'From "Platform [SNPs passing QC]"')), ('imputed', ('Boolean', 'From "Platform [SNPs passing QC]"')), ('population_id', ('Integer', 'Primary key of population table')), ('population', ('relationship', 'GWAS description, link to table')), ('total', ('Integer', 'Total Discovery + Replication sample size')), ('total_disc', ('Integer', 'Total discovery samples')), ('pop_flag', ('Integer', 'A bitwise flag that shows presence/absence of all populations (discovery and replication)')), ('disc_pop_flag', ('Integer', 'A bitwise flag that shows presence/absence of discovery populations')), ('european', ('Integer', 'European')), ('african', ('Integer', 'African ancestry')), ('east_asian', ('Integer', 'East Asian')), ('south_asian', ('Integer', 'Indian/South Asian')), ('hispanic', ('Integer', 'Hispanic')), ('native', ('Integer', 'Native')), ('micronesian', ('Integer', 'Micronesian')), ('arab', ('Integer', 'Arab/ME')), ('mixed', ('Integer', 'Mixed')), ('unpecified', ('Integer', 'Unspec')), ('filipino', ('Integer', 'Filipino')), ('indonesian', ('Integer', 'Indonesian')), ('total_rep', ('Integer', 'Total replication samples')), ('rep_pop_flag', ('Integer', 'A bitwise flag that shows presence/absence of replication populations')), ('rep_european', ('Integer', 'European.1')), ('rep_african', ('Integer', 'African ancestry.1')), ('rep_east_asian', ('Integer', 'East Asian.1')), ('rep_south_asian', ('Integer', 'Indian/South Asian.1')), ('rep_hispanic', ('Integer', 'Hispanic.1')), ('rep_native', ('Integer', 'Native.1')), ('rep_micronesian', ('Integer', 'Micronesian.1')), ('rep_arab', ('Integer', 'Arab/ME.1')), ('rep_mixed', ('Integer', 'Mixed.1')), ('rep_unpecified', ('Integer', 'Unspec.1')), ('rep_filipino', ('Integer', 'Filipino.1')), ('rep_indonesian', ('Integer', 'Indonesian.1')), ('sample_size', ('String', 'Initial Sample Size, string description of integer population counts above.')), ('replication_size', ('String', 'Replication Sample Size, string description of integer population counts above.'))])

A description of all columns in this table.

disc_pops

Convert disc_pop_flag to PopFlag.

display_columns(display_as='table', write=False)[source]

Return all columns in the table nicely formatted.

Display choices:
table: A formatted grid-like table tab: A tab delimited non-formatted version of table list: A string list of column names
Parameters:
  • display_as – {table,tab,list}
  • write – If true, print output to console, otherwise return string.
Returns:

A formatted string or None

get_columns(return_as='list')[source]

Return all columns in the table nicely formatted.

Display choices:
list: A python list of column names dictionary: A python dictionary of name=>desc long_dict: A python dictionary of name=>(type, desc)
Parameters:return_as – {table,tab,list,dictionary,long_dict,id_dict}
Returns:A list or dictionary
pops

Convert rep_pop_flag to PopFlag.

population_information

Display a summary of population data.

rep_pops

Convert rep_pop_flag to PopFlag.

Phenotype

class grasp.tables.Phenotype(**kwargs)[source]

Bases: sqlalchemy.ext.declarative.api.Base

An SQLAlchemy table to store the primary phenotype.

Table Name:
phenos
Columns:
phenotype: The string phenotype from the GRASP DB, unique. alias: A short representation of the phenotype, not unique. studies: A link to the studies table.
int

The ID number.

str

The name of the phenotype.

PhenoCats

class grasp.tables.Phenotype(**kwargs)[source]

Bases: sqlalchemy.ext.declarative.api.Base

An SQLAlchemy table to store the primary phenotype.

Table Name:
phenos
Columns:
phenotype: The string phenotype from the GRASP DB, unique. alias: A short representation of the phenotype, not unique. studies: A link to the studies table.
int

The ID number.

str

The name of the phenotype.

Population

class grasp.tables.Population(population)[source]

Bases: sqlalchemy.ext.declarative.api.Base

An SQLAlchemy table to store the platform information.

Table Name:
populations
Columns:
population: The name of the population. studies: A link to all studies in this population. snps: A link to all SNPs in this populations.
int

Population ID number

str

The name of the population

Platform

class grasp.tables.Platform(platform)[source]

Bases: sqlalchemy.ext.declarative.api.Base

An SQLAlchemy table to store the platform information.

Table Name:
platforms
Columns:
platform: The name of the platform from GRASP. studies: A link to all studies using this platform.
int

The ID number of this platform

str

The name of the platform

grasp.db

Functions for managing the GRASP database.

get_session() is used everywhere in the module to create a connection to the database. initialize_database() is used to build the database from the GRASP file. It takes about an hour 90 minutes to run and will overwrite any existing database.

grasp.db.get_session(echo=False)[source]

Return a session and engine, uses config file.

Parameters:echo – Echo all SQL to the console.
Returns:
A SQLAlchemy session and engine object corresponding
to the grasp database for use in querying.
Return type:session, engine
grasp.db.initialize_database(study_file, grasp_file, commit_every=250000, progress=False)[source]

Create the database quickly.

Study_file:Tab delimited GRASP study file, available here: github.com/MikeDacre/grasp/blob/master/grasp_studies.txt
Grasp_file:Tab delimited GRASP file.
Commit_every:How many rows to go through before commiting to disk.
Progress:Display a progress bar (db length hard coded).

grasp.config

Manage a persistent configuration for the database.

grasp.config.config = <configparser.ConfigParser object>

A globally accessible ConfigParger object, initialized with CONFIG_FILE.

grasp.config.CONFIG_FILE = '/home/docs/.grasp'

The PATH to the config file.

grasp.config.init_config(db_type, db_file='', db_host='', db_user='', db_pass='')[source]

Create an initial config file.

Parameters:
  • db_type – ‘sqlite/mysql/postgresql’
  • db_file – PATH to sqlite database file
  • db_host – Hostname for mysql or postgresql server
  • db_user – Username for mysql or postgresql server
  • db_pass – Password for mysql or postgresql server (not secure)
Returns:

NoneType

Return type:

None

grasp.config.init_config_interactive()[source]

Interact with the user to create a new config.

Uses readline autocompletion to make setup easier.

grasp.config.write_config()[source]

Write the current config to CONFIG_FILE.

grasp.info

Little functions to pretty print column lists and category info.

get_{phenotypes,phenotype_categories,popululations} all display a dump of the whole database.

get_population_flags displays available flags from PopFlag.

display_{study,snp}_columns displays a list of available columns in those two tables as a formatted string.

get_{study,snp}_columns return a list of available columns in those two tables as python objects.

grasp.info.display_snp_columns(display_as='table', write=False)[source]

Return all columns in the SNP table as a string.

Display choices:
table: A formatted grid-like table tab: A tab delimited non-formatted version of table list: A string list of column names
Parameters:
  • display_as – {table,tab,list}
  • write – If true, print output to console, otherwise return string.
Returns:

A formatted string or None

grasp.info.display_study_columns(display_as='table', write=False)[source]

Return all columns in the Study table as a string.

Display choices:
table: A formatted grid-like table tab: A tab delimited non-formatted version of table list: A string list of column names
Parameters:
  • display_as – {table,tab,list}
  • write – If true, print output to console, otherwise return string.
Returns:

A formatted string or None

grasp.info.get_phenotype_categories(list_only=False, dictionary=False, table=False)[source]

Return all phenotype categories from the PhenoCats table.

List_only:Return a simple text list instead of a list of Phenotype objects.
Dictionary:Return a dictionary of phenotype=>ID
Table:Return a pretty table for printing.
grasp.info.get_phenotypes(list_only=False, dictionary=False, table=False)[source]

Return all phenotypes from the Phenotype table.

List_only:Return a simple text list instead of a list of Phenotype objects.
Dictionary:Return a dictionary of phenotype=>ID
Table:Return a pretty table for printing.
grasp.info.get_population_flags(list_only=False, dictionary=False, table=False)[source]

Return all population flags available in the PopFlags class.

List_only:Return a simple text list instead of a list of Phenotype objects.
Dictionary:Return a dictionary of population=>ID
Table:Return a pretty table for printing.
grasp.info.get_populations(list_only=False, dictionary=False, table=False)[source]

Return all populatons from the Population table.

List_only:Return a simple text list instead of a list of Phenotype objects.
Dictionary:Return a dictionary of population=>ID
Table:Return a pretty table for printing.
grasp.info.get_snp_columns(return_as='list')[source]

Return all columns in the SNP table.

Display choices:
list: A python list of column names dictionary: A python dictionary of name=>desc long_dict: A python dictionary of name=>(type, desc)
Parameters:return_as – {table,tab,list,dictionary,long_dict,id_dict}
Returns:A list or dictionary
grasp.info.get_study_columns(return_as='list')[source]

Return all columns in the SNP table.

Display choices:
list: A python list of column names dictionary: A python dictionary of name=>desc long_dict: A python dictionary of name=>(type, desc)
Parameters:return_as – {table,tab,list,dictionary,long_dict,id_dict}
Returns:A list or dictionary

grasp.ref

ref.py holds some simple lookups and the PopFlags classes that don’t really go anywhere else.

Holds reference objects for use elsewhere in the module.

class grasp.ref.PopFlag[source]

Bases: flags.Flags

A simplified bitwise flag system for tracking populations.

Based on py-flags

eur

1 # European

afr

2 # African ancestry

east_asian

4 # East Asian

south_asian

8 # Indian/South Asian

his

16 # Hispanic

native

32 # Native

micro

64 # Micronesian

arab

128 # Arab/ME

mix

256 # Mixed

uns

512 # Unspec

filipino

1024 # Filipino

indonesian

2048 # Indonesian

Example::
eur = PopFlag.eur afr = PopFlag(2) his_micro = PopFlag.from_simple_string(‘his|micro’) four_pops = eur | afr four_pops |= his_micro assert four_pops == PopFlag.from_simple_string(‘his|micro|afr|eur’) PopFlag.eur & four_pops > 0 # Returns True PopFlag.eur i== four_pops # Returns False PopFlag.arab & four_pops > 0 # Returns False

Table Columns

The two important tables with the majority of the data are Study and SNP. In addition, phenotype data is stored in Phenotype and PhenoCats, population data is in Population, and platforms are in Platform.

Study

To query studies, it is recommended to use the query.get_studies() function.

Column Description Type
id id Integer
pmid PubmedID String
title Study String
journal Journal String
author 1st_author String
grasp_ver GRASPversion? Integer
noresults No results flag Boolean
results #results Integer
qtl IsEqtl/meQTL/pQTL/gQTL/Metabolmics? Boolean
snps Link to all SNPs in this study relationship
phenotype_id ID of primary phenotype in Phenotype table Integer
phenotype A link to the primary phenotype in the Phenotype table relationship
phenotype_cats A link to all phenotype categories assigned in the PhenoCats table relationship
datepub DatePub Date
in_nhgri In NHGRI GWAS catalog (8/26/14)? Boolean
locations Specific place(s) mentioned for samples String
mf Includes male/female only analyses in discovery and/or replication? Boolean
mf_only Exclusively male or female study? Boolean
platforms Link to platforms in the Platform table. Platform [SNPs passing QC] relationship
snp_count From “Platform [SNPs passing QC]” String
imputed From “Platform [SNPs passing QC]” Boolean
population_id Primary key of population table Integer
population GWAS description, link to table relationship
total Total Discovery + Replication sample size Integer
total_disc Total discovery samples Integer
pop_flag A bitwise flag that shows presence/absence of all populations (discovery and replication) Integer
disc_pop_flag A bitwise flag that shows presence/absence of discovery populations Integer
european European Integer
african African ancestry Integer
east_asian East Asian Integer
south_asian Indian/South Asian Integer
hispanic Hispanic Integer
native Native Integer
micronesian Micronesian Integer
arab Arab/ME Integer
mixed Mixed Integer
unpecified Unspec Integer
filipino Filipino Integer
indonesian Indonesian Integer
total_rep Total replication samples Integer
rep_pop_flag A bitwise flag that shows presence/absence of replication populations Integer
rep_european European.1 Integer
rep_african African ancestry.1 Integer
rep_east_asian East Asian.1 Integer
rep_south_asian Indian/South Asian.1 Integer
rep_hispanic Hispanic.1 Integer
rep_native Native.1 Integer
rep_micronesian Micronesian.1 Integer
rep_arab Arab/ME.1 Integer
rep_mixed Mixed.1 Integer
rep_unpecified Unspec.1 Integer
rep_filipino Filipino.1 Integer
rep_indonesian Indonesian.1 Integer
sample_size Initial Sample Size, string description of integer population counts above. String
replication_size Replication Sample Size, string description of integer population counts above. String

SNP

Column Description Type
id NHLBIkey BigInteger
snpid SNPid String
chrom chr String
pos pos Integer
pval Pvalue Float
NHLBIkey NHLBIkey String
HUPfield HUPfield String
LastCurationDate LastCurationDate Date
CreationDate CreationDate Date
population_id Primary Integer
population Link relationship
study_id Primary Integer
study Link relationship
study_snpid SNPid String
paper_loc LocationWithinPaper String
phenotype_desc Phenotype String
phenotype_cats Link relationship
InGene InGene String
NearestGene NearestGene String
InLincRNA InLincRNA String
InMiRNA InMiRNA String
InMiRNABS InMiRNABS String
dbSNPfxn dbSNPfxn String
dbSNPMAF dbSNPMAF String
dbSNPinfo dbSNPalleles String
dbSNPvalidation dbSNPvalidation String
dbSNPClinStatus dbSNPClinStatus String
ORegAnno ORegAnno String
ConservPredTFBS ConservPredTFBS String
HumanEnhancer HumanEnhancer String
RNAedit RNAedit String
PolyPhen2 PolyPhen2 String
SIFT SIFT String
LSSNP LS String
UniProt UniProt String
EqtlMethMetabStudy EqtlMethMetabStudy String

Phenotype

All available phenotypes are available on the Phenotypes wiki page

  • id
  • phenotype
  • studies (link to Study table)
  • snps (link to SNP table)

PhenoCats

All phenotype categories are available on the Phenotype Categories wiki page

  • id
  • population
  • alias
  • studies (link to Study table)
  • snps (link to SNP table)

Population

  • id
  • population
  • studies (link to Study table)
  • snps (link to SNP table)

All population entries are available on the Populations wiki page

Platform

  • id
  • platform
  • studies (link to Study table)
  • snps (link to SNP table)

GRASP Table Query Reference

Phenotype

The following phenotypes are stored in the GRASP database (there are 1,209 of them):

Phenotype ID
5-HTT serotonin transporter levels, in brain 999
93 circulating phenotypes 557
ADD 1021
ADHD 566
ADHD and conduct disorder symptoms 663
ADHD in adults 662
ADHD, inattention and hyperactivity-impulsivity tests 496
ADHD, methylphenidate treatment response in 660
Abdominal aortic aneurysm 714
Abdominal subcutaneous and visceral adipose depots 160
Acetaminophen toxicity in blood cell lines 965
Activated partial thromboplastin time (aPTT) and activated protein C resistance 377
Activated partial thromboplastin time (aPTT) and prothrombin time 202
Activated partial thromboplastin time (aPTT), in blood 811
Acute lung injury 983
Acute lung injury following major trauma 32
Acute respiratory distress syndrome 463
Adaptation of normoxic and mild-hypoxic inhabitants 169
Addiction phenotypes (alcohol, nicotine, marijuana, cocaine, opiates, other drugs) 989
Adipocyte fatty acid-binding protein concentration, in serum 1113
Adiponectin levels in women 905
Adiponectin levels, in plasma 679
Adiponectin, high molecular weight, in serum 1073
Adiponectin, in plasma 1167
Adiponectin, in serum 105
Adiposity traits 211
Adolescent idiopathic scoliosis 546
Adolescent idiopathic scoliosis, in women 1152
Advanced age-related macular degeneration subtypes 205
Age at menarche 528
Age at menarche and age at natural menopause 458
Age at menarche, age at menopause 1186
Age at menopause 20
Age at menopause (early menopause) 415
Age at natural menopause 709
Age-related cataract (ARC) and Alzheimer disease (AD) 300
Age-related macular degeneration 197
Age-related macular degeneration (AMD), wet neovascular 580
Age-related macular degeneration, advanced 822
Age-related macular degeneration, exudative 1122
Aging successfully (longevity and low disease burden) 221
Airflow obstruction 242
Albumin and total protein, serum 313
Albumin:globin ratio, serum 414
Albuminuria, in urine 1002
Alcohol and nicotine co-dependence 112
Alcohol consumption 166
Alcohol consumption (heavy) 454
Alcohol craving 109
Alcohol dependence 338
Alcohol dependence in bipolar cases and non-bipolar controls 1115
Alcohol withdrawal symptoms 1169
Alcohol-related and sporadic pancreatitis 356
Allele-specific FAIRE regulation in lymphoblastoid cell lines 273
Allergic rhinitis and grass sensitization 1157
Alopecia (early-onset androgenetic alopecia) 196
Alopecia areata 858
Alpha-tocopherol after vitamin E supplementation in men, serum 86
Alzheimer’s disease 83
Alzheimer’s disease with psychotic symptoms 1146
Alzheimer’s disease, MRI atrophy as a QTL for 948
Alzheimer’s disease, age at onset 1147
Alzheimer’s disease, late onset 223
Amygdala activation, in youths, with and without bipolar disorder 807
Amygdala reactivity 249
Amyloid A levels, in serum 952
Amyotrophic Lateral Sclerosis (ALS) 290
Amyotrophic Lateral Sclerosis (ALS), sporadic 100
Androgen levels in men, serum 279
Androgenic alopecia (Male pattern baldness) 664
Anemia, ribavirin-induced in hepatitis C treatment 864
Angiotensin-converting enzyme (ACE) activity, in serum 779
Ankle-brachial index (ABI) 50
Ankylosing spondylitis 778
Anorexia nervosa 940
Anthropometric traits (body mass index, waist to hip ratio, height, obesity grade) 513
Anti-cyclic citrullinated peptide titer 695
Anti-cytomegalovirus antibody response 1141
Antibody response to anthrax vaccine adsorbed 176
Antibody response to smallpox vaccine 137
Antibody titer to hepatitis B vaccination 1088
Antidepressant efficacy in major depressive disorder 339
Antidepressant response in major depressive disorder 159
Antihypertensive response to an Angiotensin II Receptor Blocker 150
Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis 234
Antiphospholipid antibodies 490
Antipsychotic drug-induced weight gain, severe 151
Antipsychotic treatment outcomes 392
Antipsychotic-induced tardive dyskinesia 1103
Antisocial behavior 814
Antisocial behavior (adult) 336
Antithrombin, in plasma 562
Anxiety (childhood anxiety) 515
Anxiety spectrum disorders 820
Aortic root diameter 975
Arsenic metabolism and toxicity 63
Arterial stiffness 765
Arthritis (juvenile idiopathic arthritis) 48
Arthritis (juvenile rheumatoid arthritis) 530
Asparaginase sensitivity in blood cell lines 936
Aspartate aminotransferase (AAT) levels, in serum 1120
Asperger disorder 966
Aspirin hydrolytic activity, in plasma 489
Aspirin-exacerbated respiratory disease 371
Asthma 1
Asthma (acute bronchodilator response) 487
Asthma (adult) 373
Asthma (childhood allergic asthma) 1004
Asthma (childhood asthma) 594
Asthma (childhood asthma, age at onset) 146
Asthma (severe asthma) 149
Asthma exacerbation 563
Asthma response to bronchodilators 228
Asthma response to inhaled corticosteroids 135
Asthma, aspirin-intolerant 937
Asthma, childhood 1069
Asthma, severe exacerbations 1076
Asthma, toluene diisocynate induced 682
Astigmatism 420
Atherosclerosis and myocardial infarction 978
Atopic dermatitis 321
Atopy 942
Atopy and allergic rhinitis 1053
Atopy, with and without asthma 757
Atrial fibrillation 139
Atrial fibrillation, atrial flutter 592
Atypical cytochrome P450 3A4 (CYP3A4) enzyme activity 283
Autism 277
Autism like traits 759
Autism spectrum disorders 74
Autism spectrum disorders with language delay 1034
Autism, gender differences 961
Autism, monoallelic expression in blood cell lines 1063
Autoimmune thyroid disease (Grave’s disease and Hashimoto’s thyroiditis) 274
Azoospermia and oligozoospermia 711
B-vitamin level (Vitamin B6, Vitamin B12) concentrations, folate and homocysteine, in serum 697
Barrett’s esophagus 292
Behavior, childhood 1091
Behcet’s disease 707
Behet’s disease 307
Beta-2 microglobulin, in plasma 451
Beta-thalassemia/hemoglobin E disease 801
Beta-trace protein levels, in plasma 422
Bicuspid aortic valve 784
Biliary atresia 835
Bilirubin levels 431
Bilirubin levels (total bilirubin) 539
Bilirubin levels, in serum 703
Bilirubin levels, in serum, unconjugated 1183
Biomarkers (liver function, butrylycholinesterase, CRP, ferritin, glucose, HDL cholesterol, insulin, LDL cholesterol, triglycerides, uric acid), body mass index (BMI) 1132
Biomarkers (natriuretic peptides, vitamin K, vitamin D, CD40L, osteoprotegerin, P-selectin, TNFR2, TNFa, liver function, osteocalcin, CRP, IL6, sICAM, MCP1, myelperoxidase), in plasma or serum 605
Bipolar disorder 334
Bipolar disorder (mood-incongruent psychotic bipolar disorder) 340
Bipolar disorder and schizophrenia 909
Bipolar disorder and white matter integrity 386
Bipolar disorder with irritable or elated mania in severe episodes 421
Bipolar disorder with negative mood delusions 310
Bipolar disorder with seasonal pattern mania 276
Bipolar disorder, affective 845
Bipolar disorder, age of onset in 993
Bipolar disorder, personality traits within 1006
Bipolar disorder, schizoaffective 719
Birth weight 380
Birth weight, length, head circumference and fat mass 519
Bisphosphonate-related osteonecrosis of the jaw 21
Bivariate analysis of femoral neck bone mineral density and age at menarche 525
Bladder cancer 725
Bleomycin sensitivity, in blood samples 945
Blood biomarkers in chronic obstructive pulmonary disease 358
Blood cell count (lymphocyte count) and gene expression 23
Blood cell count (monocyte count) 416
Blood cell count (neutrophil count) 799
Blood cell counts and other traits (platelet count (PLT), red cell count, white cell count, hemoglobin, urate, GGT, alkaline phosphatase, AST, ALT, creatinine kinase, total protein, albumin, blood urea nitrogen, serum creatinine, HDL cholesterol, triglycerides) 787
Blood cell counts and traits, in red and white blood cells 402
Blood cell counts and traits, in red blood cells 555
Blood cell counts, in white cells 1080
Blood cell counts, in white cells in leukemia patients in remission 1033
Blood cell traits (red blood cell count, hemoglobin, hematocrit) 1209
Blood cell traits, in red blood cells 147
Blood group types in women 165
Blood phenotypes and cell counts (fibrinogen, FVII, PAI1, vWF, tPA, D-dimer, platelet aggregation, viscosity, hemoglobin, red blood cell counts) 606
Blood pressure 930
Blood pressure and arterial stiffness 612
Blood pressure and/or hypertension 673
Blood pressure lowering with thiazide-diuretic treatment 793
Blood pressure, CVD RF and other traits (body mass index (BMI), height, waist circumference, weight, leptin, percent body fat, HDL cholesterol, LDL cholesterol, total cholesterol, triglycerides, fasting glucose, thyroid stimulating hormone, C-reactive protein (CRP)) 685
Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, pulse rate, bone mineral density (BMD)) 704
Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) 907
Blood pressure, early onset hypertension 705
Body fat percentage 1075
Body mass index (BMI) 47
Body mass index (BMI) and asthma 493
Body mass index (BMI) in adolescents and young adults 548
Body mass index (BMI), height, weight, waist circumference 918
Bone geometry (femoral neck) 800
Bone geometry (femoral neck), and appendicular lean mass 1175
Bone mass and geometry 608
Bone mineral density (BMD) 194
Bone mineral density (BMD) (wrist) 943
Bone mineral density (BMD) and osteoporosis-related phenotypes 1170
Bone mineral density (BMD), cortical density, in men 951
Bone mineral density (BMD), in women 794
Bone mineral density (hip), in women 1036
Bone mineral density and fat mass 460
Bone mineral density in premenopausal women 335
Bone mineral density of forearm 518
Bone mineral density, low-trauma fracture 123
Bone mineral traits 970
Bone mineral traits, uni and bivariate analyses, in men 1014
Bone size 658
Bone size and body lean mass 345
Bone thickness, bone strength, osteoporotic fracture risk 227
Bone-related traits (pleiotropy in bone mineral density (BMD), bone geometry, muscle mass, bone quantitative ultrasound) 1049
Brachial circumference 106
Brain A_ levels 452
Brain activation patterns in response to human facial expressions 238
Brain aging, MRI and cognition phenotypes 609
Brain derived neurotrophic factor levels, in serum 1162
Brain imaging phenotypes 785
Brain infarcts, covert MRI-defined 774
Brain microstructure; intellectual performance 208
Brain neural connectivity 265
Brain size 1192
Brain structure 798
Brain white matter hyperintensity 1064
Brain white matter integrity 81
Breast and ovarian cancer risk in BRCA1 carriers 506
Breast cancer 8
Breast cancer (ER-positive) and post-menopausal estradiol concentrations, in plasma 494
Breast cancer and prostate cancer 510
Breast cancer in males 305
Breast cancer meta 903
Breast cancer risk 855
Breast cancer risk in Ashkenazi Jewish women without BRCA1/2 mutations 427
Breast cancer risk related to menopausal hormone therapy 457
Breast cancer survival 12
Breast cancer survival (early-onset breast cancer) 418
Breast cancer, BRCA1-positive 901
Breast cancer, BRCA2-positive 931
Breast cancer, ER negative 500
Breast cancer, adverse effects to aromatase inhibitors 904
Breast cancer, clinical outcomes of adjuvant tamoxifen therapy 1199
Breast cancer, early onset 640
Breast cancer, estrogen receptor-negative 1159
Breast cancer, hormonal receptor-positive 285
Breast cancer, lapatinib-induced hepatotoxicity in 981
Breast cancer, prostate cancer 576
Breast cancer, sporadic post-menopausal 589
Breast size 215
Bronchopulmonary dysplasia 1109
Butyrylcholinesterase activity, in serum 1112
C-reactive protein (CRP) 115
C-reactive protein (CRP) and white blood cell (WBC) 224
C-reactive protein (CRP) levels, in plasma, in women 635
C-reactive protein (CRP) levels, in serum 636
CD4:CD8 T cell ratios 775
CVD outcomes (CVD, MI, stroke, CHD death, atrial fibrillation, heart failure) 614
CVD risk factors and quantitative traits (blood pressure, heart rate, LDL cholesterol, HDL cholesterol, total cholesterol, triglycerides, glucose, insulin, height, weight, waist circumference) 899
Cachexia 924
Caffeine-induced insomnia 216
Calcium intake levels and metabolic syndrome 1193
Calcium levels, in serum 871
Cannabis dependence 1060
Cannabis use initiation 237
Capecitabine sensitivity 253
Carbamazepine ADRs 960
Carboplatin cytotoxicity and gene expression, in blood cell lines 656
Cardiac structure and function measurements (LV mass, internal dimensions, wall size, systolic dysfunction, aortic root size, left atrial size) 721
Cardiac structure and systolic function 405
Cardiovascular disease adverse events in renal patients treated with calcineurin inhibitors 577
Cardiovascular disease events in migraineurs 1090
Cardiovascular disease risk 1155
Carotenoid and tocopherol levels, in plasma 681
Carotid artery intimal-media thickness 481
Carotid atherosclerosis in HIV-infected men 758
Carotid intima-media thickness 365
Carotid intima-media thickness and plaque 1124
Carotid-femoral pulse wave velocity 1168
Cataracts (diabetic cataract) 352
Cataracts in T2D 873
Caudate volume 1031
Celiac disease 591
Celiac disease and Rheumatoid arthritis 1008
Cell-Free DNA, serum 127
Central cornea thickness 837
Central corneal thickness 235
Central corneal thickness and keratoconus 411
Cerebrospinal fluid tau 512
Ceruloplasmin levels, in serum 1171
Cervical cancer 479
Chemerin levels, in plasma 810
Chemotherapeutic response (cytabarine, 5’deoxyfluorouridine, carboplatin, cisplatin), in blood cell lines 1084
Chewing tobacco associated oral cancers 119
Childhood dental caries 1131
Chronic fatigue syndrome 1127
Chronic hepatitis B 699
Chronic hepatitis B progression 1145
Chronic kidney disease (CKD) 104
Chronic kidney disease (CKD) and kidney stones 877
Chronic kidney disease (CKD) and renal traits 232
Chronic obstructive pulmonary disease (COPD) 696
Chronic obstructive pulmonary disease (COPD), smoking behavior in 1065
Chronic widespread pain 289
Circulating 25-hydroxyvitamin D 351
Circulating PCSK9 Levels 97
Circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women 185
Circulating galectin-3 levels 331
Circulating haptoglobin levels 73
Circulating levels of plasminogen activator inhibitor-1 (PAI-1) 303
Circulating phospho- and sphingolipid concentrations 49
Circulating resistin levels 246
Circulating vitamin D levels in children with asthma 184
Cisplatin and carboplatin cytotoxicity, in blood cell lines 1110
Cisplatin cytotoxicity and gene expression, in blood cell lines 601
Cisplatin cytotoxicity, in blood cell lines 1089
Cisplatin-induced apoptosis and gene expression in blood cell lines 1054
Cleft lip (nonsyndromic cleft lip with or without cleft palate) 693
Cleft lip (nonsyndromic cleft lip) 251
Cleft lip, with or without cleft palate 830
Cleft palate (nonsyndromic cleft palate) 1050
Coagulation factor levels (FVII, FVIII, vWF), in plasma 809
Coagulation factors and fibrin factor levels and ischemic stroke 439
Coffee consumption 1003
Cognition (childhood intelligence) 428
Cognition (information processing speed) 955
Cognition (intelligence) 1102
Cognition (mathematical ability) 771
Cognition with anti-psychotic treatment 946
Cognition, early reading ability 599
Cognition, in schizophrenia 1062
Cognition, memory (episodic memory) 587
Cognition, memory (memory task performance) 581
Cognition, memory (short term memory) 770
Cognitive ability 621
Cognitive decline 701
Cognitive decline (nonpathological) 382
Cognitive decline (rate in Alzheimer’s disease) 499
Cognitive decline, age-related rate of 1163
Cognitive function, normal and in bipolar disorder and schizophrenia 1185
Cognitive impairment induced by topiramate 1176
Cognitive impairment without dementia 322
Cognitive performance 737
Colorectal adenomas 554
Colorectal and prostate cancer risk 134
Colorectal cancer 172
Colorectal cancer (drug response in metastatic colorectal cancer) 979
Colorectal cancer, efficacy of capecitabine, oxaliplatin and bevacizumab in metastatic colorectal cancer 1207
Colorectal cancer, severe oxaliplatin-induced chronic peripheral neuropathy in 1153
Common variable immunodeficiency 1029
Comorbid depressive syndrome and alcohol dependence 1166
Complement c3 and c4, serum 315
Compressive strength index (CSI) and appendicular lean mass (ALM) 291
Concentrations of cancer antigen 19-9 (CA19-9), carcinoembryonic antigen (CEA) and _ fetoprotein (AFP) 413
Conduct Disorder 854
Confectionary intake 449
Congenital heart malformations (sporadic non-syndromic) 564
Congenital heart malformations (with septal, obstructive and cyanotic defects) 565
Copper, selenium and zinc levels 569
Corneal astigmatism 1191
Corneal curvature 296
Coronary artery and aortic artery calcification 511
Coronary artery calcification 445
Coronary artery disease 38
Coronary artery lesions in Kawasaki disease 553
Coronary artery stenosis 214
Coronary heart disease 126
Coronary heart disease (incident CHD) 1106
Coronary heart disease and related risk factors (LDL cholesterol, HDL cholesterol, hypertension, smoking, T2D) 1000
Coronary spasm 622
Cortical thickness, in brain 1098
Cortisol secretion, in saliva 997
Creatinine level, in serum 808
Creutzfeldt-Jakob disease 1187
Creutzfeldt-Jakob disease and other prion disease variants 1204
Creutzfeldt-Jakob disease variant 670
Crohn’s disease 75
Crohn’s disease (earlier required surgery) 545
Crohn’s disease and Celiac disease 988
Crohn’s disease and Psoriasis 110
Crohn’s disease and ulcerative colitis 349
Cystic fibrosis with meconium ileus 98
Cystic fibrosis, lung disease in 690
Cystic fibrosis, severity of 1048
Cytabarine toxicity in blood cell lines 503
Cytokine responses to Pam(3)CSK(4) (N-palmitoyl-S-dipalmitoylglyceryl Cys-Ser-(Lys)(4)) in blood 363
D-dimer levels, in plasma 1030
DNA methylation (allele-specific methylation), in blood cell lines 792
DNA methylation in blood 571
DNA methylation, in blood cell lines 982
Dabigatran plasma levels 470
Daunorubicin cytotoxicity and gene expression, in blood cell lines 637
Dehydroepiandrosterone sulphate (DHEAS) levels, in serum 1038
Dengue shock syndrome 1143
Dental caries 397
Dental caries in permanent dentition 332
Depressive affect 889
Diabetes in cystic fibrosis 549
Diabetic retinopathy 902
Differential cardiovascular event reduction by pravastatin therapy 181
Dilated cardiomyopathy 920
Disordered eating 517
Disordered gambling 222
Down’s Syndrome & Alzheimer’s disease 529
Drug response to interferon-beta therapy in multiple sclerosis (MS) 1032
Drug-induced liver injury (>200 drugs included) 295
Drug-induced liver injury with amoxicillin-clavulanate treatment 1043
Drug-induced liver injury with flucloxacillin treatment 713
Duodenal ulcer 66
Dupuytren’s disease 919
Dyslexia 378
Dyslexia (and mathematical ability) 456
ECG (Electrocardiogram measurements), PR interval 353
ECG (Electrocardiogram measurements), PR interval, QRS duration 702
ECG (Electrocardiogram measurements), PR interval, QRS interval, QTc interval 777
ECG (Electrocardiogram measurements), QRS duration 469
ECG (Electrocardiogram measurements), QRS interval 938
ECG (Electrocardiogram measurements), QT interval 209
ECG (Electrocardiogram measurements), QT interval change with iloperidone treatment in schizophrenia 647
ECG (Electrocardiogram measurements), QT interval prolongation with antipsychotic treatment 910
ECG (Electrocardiogram measurements), QT interval, PR interval, QRS duration, Heart rate variability 498
ECG (Electrocardiogram measurements), QT interval, PR interval, RR interval, Heart rate variability 615
ECG (Electrocardiogram measurements), RR interval 767
ECG (Electrocardiogram measurements), T-Peak to T-End interval 45
ECG (Electrocardiogram measurements), early repolarization pattern 190
ECG dimensions, brachial artery endothelial function, treadmill exercise responses 611
EEG measurements, in brain 828
Eating disorders 270
Economic and political preferences 153
Educational attainment 570
Effectiveness of iloperidone treatment in schizophrenia 646
Emphysema 885
End-stage renal disease 754
End-stage renal disease (ESRD), non-diabetic 848
Endometrial cancer 3
Endometriosis 343
Epilepsy 1181
Epilepsy (genetic generalized epilepsies) 284
Epilepsy (partial epilepsy) 843
Epirubicin-induced leukopenia in cancer patients 1095
Equol producers 103
Erectile dysfunction 913
Erectile dysfunction (ED) among prostate cancer patients treated with radiation therapy 312
Erectile dysfunction in Type 1 Diabetes 203
Eruption of permanent teeth 1130
Erythrocyte sedimentation rate 1071
Esophageal cancer (esophageal squamous cell carcinoma) 41
Esophageal cancer (esophageal squamous cell carcinoma) survival 540
Essential hypersomnia 541
Essential tremor 220
Etoposide cytotoxicity and gene expression in blood cell lines 590
Ewing sarcoma 42
Exercise participation 735
Eye color 480
FSH levels, anti-Mullerian hormone levels, in serum 1182
FVII levels 1061
FVIII levels, vWF levels 1097
Facial morphology 317
Facial photoaging 387
Factor XI Level and activated partial thromboplastin time (aPTT), in plasma 201
Familial hypercholesterolemia 294
Family chaos 633
Fasting glucose 7
Fasting glucose and insulin, and response to glucose in plasma 256
Fasting glucose, in plasma 638
Fasting glycemic traits and insulin resistance 158
Fasting insulin 1121
Fasting insulin processing and secretion in non-diabetics 401
Fasting insulin; insulin resistance 225
Fasting proinsulin levels in non-diabetics 1114
Fasting triglycerides, in plasma 668
Fatty acid levels, in plasma 430
Fatty liver and alanine aminotransferase levels (ALT) 476
Fenofibrate effects on circulating adiponectin 360
Ferritin and soluble transferrin receptor levels, in serum 959
Ferritin levels, in serum 671
Fetal growth and birth weight 821
Fetal hemoglobin levels 280
Fibrinogen (gamma fibrinogen) 1086
Fibrinogen levels 922
Fibrinogen levels, in plasma 762
Fibrinogen levels, in plasma, in women 763
Frontal cortex theta oscillations in alcoholism 142
Frontotemporal lobar degeneration with TDP-43 inclusions, in brain 790
Fuch’s corneal dystrophy 893
GABA concentration in the occipital cortex in children 977
Gains in maximal O(2) uptake (VO(2max)) after exposure to a standardized 20-wk exercise program 4
Gallbladder cancer 37
Gallstone disease 595
Gamma-glutamyl transferase (GGT) levels, in serum 1150
Gastric adenocarcinoma and esophageal squamous cell carcinoma 888
Gastric cancer (diffuse-type gastric cancer) 644
Gastric cancer (non-cardia gastric cancer) 1158
Gastric cancer, chemosensitivity to oxaliplatin, docetaxel and paclitaxel 1202
Gaucher disease 67
Gender 51
Gene expression and DNA methylation in 4 brain regions (pons, cerebellum, frontal cortex, temporal cortex) 838
Gene expression and DNA methylation in brain cerebellum 6
Gene expression in 3 blood cell types, in blood cell lines 723
Gene expression in CD4+ T cells in HIV-1 infected individuals 803
Gene expression in CD4+ lymphocytes 896
Gene expression in adipose and blood cells 632
Gene expression in basal cell carcinomas 1149
Gene expression in blood cell lines 603
Gene expression in blood cell lines (indel eQTLs) 477
Gene expression in blood cell lines (parent of origin effects) 271
Gene expression in blood cells 193
Gene expression in blood cells and fibroblasts 550
Gene expression in blood dendritic cells before and after exposure to Mycobacterium tuberculosis 14
Gene expression in brain (cerebellum and temporal cortex) 191
Gene expression in brain cortex 619
Gene expression in brain prefrontal cortex 816
Gene expression in breast tumors 130
Gene expression in cortex and peripheral blood mononuclear cells 688
Gene expression in cortex in Alzheimer’s disease and controls 700
Gene expression in cultured endothelial cells 797
Gene expression in endometrial cancer tumors 976
Gene expression in intestine 474
Gene expression in introns and nonsense-mediated decay in blood cell lines 869
Gene expression in leukemia cells and normal leukocytes 643
Gene expression in leukocytes 676
Gene expression in liver 93
Gene expression in monocytes 840
Gene expression in muscle 990
Gene expression in osteoblasts 726
Gene expression in osteoblasts and blood cell lines 727
Gene expression in skin cells 953
Gene expression in skin cells, adipose and blood cell lines, in women 992
Gene expression in sputum 1134
Gene expression in stomach, liver and adipose 1047
Gene expression in treated osteoblasts 987
Gene expression networks in adipose and blood 62
Gene expression of microRNA (miRNA) in abdominal and gluteal adipose 1177
Gene expression of microRNA (miRNA) in blood cell lines 1067
Gene expression of microRNA (miRNA) in fibroblasts 958
Gene expression of microRNAs (miRNA) and other small RNAs in adipose tissue 161
Gene expression of microRNAs (miRNA) in blood cell lines 174
Gene expression splicing and processing in glioblastoma cell lines 99
Glaucoma 600
Glaucoma (central corneal thickness in primary open-angle glaucoma) 178
Glaucoma (intraocular pressure and primary open-angle glaucoma) 156
Glaucoma (normal tension glaucoma) 229
Glaucoma (optic nerve degeneration in glaucoma) 82
Glaucoma, normal tension 819
Glaucoma, open angle 1035
Glaucoma, open-angle 898
Glaucoma, primary angle closure 275
Glaucoma, primary open-angle 78
Glaucoma, primary open-angle and age-related macular degeneration 502
Glaucoma-related traits 1164
Glioblastoma 101
Glioma 258
Glomerulosclerosis 874
Glucose homeostasis traits (fasting glucose, fasting insulin, HOMA-B, HOMA-IR) 783
Gout 128
Grave’s disease 531
HDL cholesterol 318
HDL cholesterol (high/low extremes) 1206
HDL cholesterol and triglyceride levels, in plasma 626
HDL particle features 986
HIV-1 (efavirenz pharmacokinetics) 337
HIV-1 acquisition 52
HIV-1 acquisition and viral load at set point 1198
HIV-1 control and progression 928
HIV-1 infection (development of cross-reacting neutralizing antibodies) 434
HIV-1 non-progression 883
HIV-1 non-progression (untreated, long term) 15
HIV-1 progression to AIDS and death 1100
HIV-1 replication 1005
HIV-1 resistance in highly exposed individuals with hemophilia A 433
HIV-1 susceptibility 963
HIV-1 viral load at set point 772
HIV-1, mother to child transmission 839
HIV-1/AIDS progression 597
HIV-associated neurocognitive disorders 167
Hair color 143
Hair color (red) 1189
Hair morphology 750
Hair, eye and skin pigmentation 348
Handedness 535
Health and aging, CVD and cancer age of onset 1196
Hearing function 1028
Hearing impairment, age related 655
Hearing impairment, age-related 780
Heart failure (incident risk) 833
Heart failure mortality among adults 826
Heart failure risk and mortality 1001
Heart failure with dilated cardiomyopathy 1018
Heart rate 521
Heart rate response to exercise training 1197
Heart rate, resting 374
Height 466
Height (in Pygmies) 155
Height (pubertal growth) 462
Height and body mass index 824
Height and body mass index (BMI) 299
Height, pubertal growth in 825
Helicobacter pylori serologic status 543
Hematological toxicities in cancer patients receiving gemcitabine therapy 30
Hemoglobin (HbA1c, glycated hemoglobin levels) 27
Hemoglobin A2 (HbA2) levels 323
Hemoglobin concentration 849
Hemoglobin levels 744
Hemoglobin levels, fetal hemoglobin levels in adults (HbF) by F cell levels 602
Hemoglobin levels, in serum 745
Hepatic adverse events with thrombin inhibitor ximelagatran 588
Hepatitis B virus (HBV) clearance 210
Hepatitis C infection 776
Hepatitis C virus-induced liver fibrosis 245
Hepatitis C-induced liver cirrhosis 419
Hepcidin, in serum 1092
Heroin addiction vulnerability 842
Hippocampal and intracranial volumes 120
Hippocampal volume 124
Hippocampal volume, total cerebral volume, white matter hyperintensities in Alzheimer disease patients 213
Hirschsprung’s disease 684
Hoarding behavior 991
Homocysteine levels, in plasma 717
Homocysteine levels, in plasma, in women 764
Human intelligence or general cognitive ability in ADHD families 94
Human papilloma virus seropositivity 1117
Huntington’s disease 65
Hypertension 107
Hypertension (essential hypertension) 1200
Hypertension and blood pressure traits 64
Hypertension with short sleep duration 40
Hypertension, salt-sensitive 1045
Hypertriglyceridemia 867
Hypertropic cardiomyopathy 396
Hypospadias 947
Hypothyroidism 116
Hypothyroidism and thyroid conditions 1137
IFN_ response to smallpox vaccine 177
IL-6 levels 486
IL-6, erythrocyte sedimentation rate, MCP-1, C-reactive protein (CRP) 29
Idiopathic premature ovarian failure 1138
Idiopathic pulmonary fibrosis 661
IgA deficiency (selective IgA deficiency) 879
IgA levels, in serum 252
IgE (total IgE) concentrations, plasma 1172
IgE levels, in serum 359
IgG index in multiple sclerosis 388
IgG level, in serum 183
IgM, in serum 347
Ileal carcinoids 957
Implantable cardioverter-defibrillator activation with life-threatening arrhythmias 18
Infant head circumference 122
Infantile hypertrophic pyloric stenosis 34
Inflammatory demyelinating disease 746
Insulin like growth factor levels 973
Insulin response 706
Insulin traits (Insulin sensitivity index (ISI), Insulin disposition index (IDI)) 753
Inter-adventitial common carotid artery diameter 393
Interferon-related cytopenia in hepatitis C 1074
Interleukin levels (IL10, IL1Ra, IL6), in plasma 1203
Interleukin levels (IL18 levels) 789
Intracranial aneurysm 24
Intracranial aneurysm, sporadic 293
Intracranial volume 121
Irinotecan-related severe toxicities in patients with advanced non-small-cell lung cancer 179
Iris color 630
Iris patterns 1108
Iron deficiency 1026
Iron levels, in serum 749
Job-related exhaustion 533
Joint damage in rheumatoid arthritis 556
Kawasaki disease 91
Keloid 886
Keratoconus 1135
Kidney function and endocrine traits (urinary albumin, creatinine, cystatin-C, thyroid stimulating hormone), in serum and in urine 604
Kidney stone disease 718
LDL cholesterol 333
LDL cholesterol in genotype-1 chronic hepatitis C 118
LDL cholesterol, coronary artery calcification 929
Lactate dehydrogenase, in serum 923
Lamotrigine- and phenytoin-induced hypersensitivity reactions 61
Late rectal bleeding following chemotherapy for prostate cancer 568
Lean body mass 692
Lean body mass; age at menarche 212
Left ventricular (LV) wall thickness 971
Left ventricular hypertrophy by electrocardiogram (ECG) 1104
Left ventricular mass 710
Lentiform nucleus volume 266
Leprosy 760
Leukemia (B-cell chronic lymphocytic leukemia) 654
Leukemia (acute lymphoblastic leukemia) (ALL) 1173
Leukemia (childhood acute lymphoblastic leukemia relapse) 309
Leukemia (childhood acute lymphoblastic leukemia) 492
Leukemia (childhood acute lymphoblastic leukemia) (ALL) 875
Leukemia (chronic lymphocytic leukemia) 200
Leukemia (chronic myeloid leukemia) 1039
Leukemia (pediatric acute lymphoblastic leukemia) 730
Leukemia, T-cell recognition in patients 934
Lipid level measurements 170
Lipid level measurements, blood pressure, albumin, CRP levels, fibrinogen, uric acid, white cell count, FII, FIII, vWF, glucose, insulin, waist circumference 1154
Lipid level measurements, in plasma 743
Lipid measurements and other quantitative traits (in serum: sodium, potassium, chloride, urea, creatinine, calcium, albumin, GGT, glucose, urate, total cholesterol, LDL cholesterol, HDL cholesterol, triglycerides; in urine: sodium, potassium, creatinine, albumin) 625
Lipoprotein A [Lp(a)] levels and coronary artery disease 769
Lipoprotein A [Lp(a)] levels in plasma 1046
Lipoprotein A [Lp(a)] levels in plasma, cardiovascular disease and mortality 1119
Lipoprotein A [Lp(a)] levels, in plasma 675
Lipoprotein-associated phospholipase A2 mass and activity; coronary heart disease 1144
Liver cancer (hepatocellular carcinoma) 944
Liver cancer (hepatocellular carcinoma) in patients with chronic hepatitis B virus infection 233
Liver cancer (hepatocellular carcinoma), progresstion to with chronic viral hepatitis 1077
Liver enzyme concentrations (alanine aminotransaminase, alkaline phosphatase, gamme-glutamyl transferase), in plasma 666
Long chain n-3 polyunsaturated fatty acid levels, in plasma 1105
Longevity 22
Longevity and age-related phenotypes (age at menopause, walking speed, biological age) 607
Longevity, exceptional 857
Low thyroid-stimulation hormone (TSH) levels and thyroid cancer 19
Lp-PLA(2) mass and activity at baseline and after 12 months of rosuvastatin therapy 346
Lp-PLA2 activity and mass 832
Lumbar disc degeneration 304
Lumiracoxib-related liver injury 866
Lung adenocarcinoma 231
Lung cancer 264
Lung cancer (DNA-repair capacity in lung cancer) 344
Lung cancer (interstitial lung disease in gefitinib-treated non-small-cell lung cancer) 1093
Lung cancer (lung adenocarcinoma stage) 980
Lung cancer (lung adenocarcinoma) 653
Lung cancer (non-small cell lung cancer) 906
Lung cancer (non-small cell lung cancer), hypertriglyceridemia with bexarotene treatment of 1079
Lung cancer (squamous cell carcinoma) 424
Lung cancer in never smokers 812
Lung cancer in never-smoking women 355
Lung cancer, non-small cell lung cancer prognosis 357
Lung cancer, prognosis in advanced non-small cell lung carcinoma with platinum-based chemotherapy 255
Lung cancer, small-cell 949
Lung cancer, smokers with versus smokers without 579
Lung cancer, survival in advanced non-small cell lung cancer with carboplatin and paclitaxel treatment 939
Lung cancer, survival in non-small cell lung carcinoma in never smokers 560
Lung cancer, survival in non-small cell lung carcinoma with platinum-based chemotherapy 1024
Lung cancer, survival in small cell lung cancer treated with irinitecan and cisplatin 478
Lung function 408
Lung function decline in adults with and without asthma 80
Lung function decline in mild to moderate chronic obstructive pulmonary disease 301
Lung function in textile workers with endotoxin exposure 495
Lung function phenotypes 616
Lung function with asthma 504
Lupus (neonatal lupus) 872
Lymphoma (Hodgkin’s lymphoma and Epstein-Barr virus status-defined subgroups) 25
Lymphoma (Hodgkin’s lymphoma) 925
Lymphoma (diffuse large B-cell lymphoma) 1020
Lymphoma (follicular lymphoma) 314
Lymphoma (non-Hodgkin lymphoma) 722
Lymphoma subtypes 426
Lypmhoma (nodular sclerosis Hodgkin lymphoma) 1174
Macronutrient intake 432
Magnesium levels, in serum 882
Major depression 102
Major depression (age of onset) 272
Major depression (suicidal thoughts and behavior) 1083
Major depression, gender differences 1051
Major depression, recurrent 841
Major depression, recurrent early onset 786
Major depression, side-effects of antidepressant treatment 1160
Major depressive disorder 361
Major mood disorder 781
Malaria 567
Malaria (severe malaria) 263
Malarial infection 868
Male fertility (family size, birth rate) 171
Malignant pleural mesothelioma 534
Mammographic density 985
Maternally-mediated genetic effects and parent-of-origin effects on risk of orofacial clefting 77
Matrix metalloproteinase (MMP-1) levels, in serum 768
Meningioma 1096
Meningococcal disease 880
Mercaptopurine toxicity in acute lymphoblastic leukemia 248
Metabolic response to hydrochlorothiazide 447
Metabolic side effects to antipsychotic drugs 802
Metabolic syndrome (HDL cholesterol, plasma glucose, T2D, waist to hip ratio, diastolic blood pressure) 881
Metabolic syndrome (HDL cholesterol, triglycerides, plasma glucose, waist circumference, systolic and diastolic blood pressure) 72
Metabolic syndrome (waist circumference, fasting glucose, HDL cholesterol, triglycerides, blood pressure) 1009
Metabolic traits (triglycerides, HDL cholesterol, LDL cholesterol, fasting plasma glucose, albumin, blood urea nitrogen, gamma-glutaryl transpeptidase, alanine aminotransferase, aspartate aminotransferase) 1125
Metabolite concentrations, gender-specific, in serum 1111
Metabolites and sphingolipids, circulating concentrations 742
Metabolites related insulin sensitivity in non-diabetics, in plasma 437
Metabolites, in plasma 1129
Metabolites, in serum 26
Metabolites, in serum in men 667
Metabolites, in serum in prostate cancer 407
Metabolites, in urine 1044
Methamphetamine dependence 631
Methamphetamine-induced psychosis and schizophrenia 527
Methotrexate clearance in acute lymphoblastic leukemia 390
Midregional-proadrenomedullin and C-terminal-pro-endothelin-1, in plasma 438
Migraine 187
Migraine without aura 189
Minor histocompatibility antigenicity in blood cell lines 624
Monoamine metabolite levels in cerebrospinal fluid 417
Monocyte chemoattractant protein-1 (MCP-1) in obese children 311
Monocyte colony-forming units (CFUs) 1027
Moyamoya disease 927
Multiple cancer types (lung cancer, noncardia gastric cancer, esophageal squamous-cell carcinoma) 342
Multiple myeloma 1184
Multiple sclerosis 157
Multiple sclerosis (brain lesion distribution in multiple sclerosis) 450
Multiple sclerosis (oligoclonal bands in multiple sclerosis) 473
Multiple sclerosis, glutamate concentrations in brains in 891
Multiple sclerosis, progressive 96
Multiple sclerosis, severity 1056
Multiple traits (Alzheimer’s disease, progressive supranuclear palsy, sudden infant death with dysgenesis of the testes syndrome) 583
Multiple traits (bipolar disorder, coronary artery disease, Crohn’s disease, rheumatoid arthritis, T1D, T2D, hypertension) 31
Multiple traits (coronary heart disease, T2D, LDL cholesterol, HDL cholesterol) 1040
Multiple traits (eye color, freckles, hair color, hair curl, asparagus anosmia, photic sneeze reflex, handedness, footedness, attached earlobes, dental work, myopia, taste preference, motion sickness, astigmatism) 856
Multiple traits (lipids, glucose, obesity, blood pressure) 586
Myasthenia gravis 330
Myeloperoxidase levels 532
Myeloproliferative neoplasm 694
Myocardial infarction 573
Myopia 471
Myopia (high myopia) 325
Myopia and refractive errors 446
Myopia, pathological 740
N-glycan levels, in plasma 969
N-glycosylation of IgG in plasma 440
NT-proBNP levels 984
Narcolepsy 467
Narcolepsy with cataplexy 483
Nasion Position 44
Nasopharyngeal carcinoma 384
Natural anticoagulant inhibitors and protein C anticoagulant pathway in venous thrombosis, in plasma 89
Nephrolithiasis 70
Nephropathy 1012
Nephropathy (Immunoglobulin A (IgA) nephropathy) 574
Nephropathy (diabetic nephropathy) 207
Nephropathy, idiopathic membranous 998
Nephrotic syndrome, acquired 1017
Neuroblastoma 282
Neuroblastoma (in low-risk cases) 1015
Neurodevelopmental phenotypes at four-year follow-up following cardiac surgery in infancy 327
Neurofibrillary tangles in non-demented elderly subjects, in brain 834
Neuropsychological treatments and metabolic and cardiovascular risk factors (HDL cholesterol, BMI) 76
Neuroticism 389
Neutropenia or leukopenia in response to chemotherapeutic agents 542
Nevirapine-induced rash 1099
Nevus count 859
Nicotine and alcohol dependence 791
Nicotine dependence 59
Nicotine dependence and smoking initiation 1148
Nicotine dependence, cigarettes per day 131
Nicotine dependence, relapse 505
Nicotine smoking 683
Nicotine, smoking behavior 241
Nicotine, smoking cessation 645
Nicotine, smoking quantity 326
Non-Albumin, albumin and total protein, serum 144
Non-obstructive azoospermia 1201
Nonalcoholic fatty liver disease 206
Nonobstructive Azoospermia 136
Nonsyndromic sagittal craniosynostosis 367
Nonsyndromic striae distensae 536
Obesity traits (body mass index (BMI), total fat mass), blood pressure 1151
Obesity traits in postmenopausal women 379
Obesity, childhood 111
Obesity, early onset 514
Obesity, early onset extreme 623
Obesity, early onset in children and adolescents 829
Obesity, extreme 584
Obesity, menopause 1013
Obesity-related traits 678
Obesity-related traits (body mass index (BMI), waist circumference, weight change, height, adiposity) 610
Obesity-related traits (body mass index (BMI), weight) 669
Obesity-related traits (body mass index (BMI), weight, hip circumference) 598
Obesity-related traits (body mass index (BMI), weight, hip circumference, waist circumference, brachial circumference, height) 691
Obesity-related traits, body mass index (BMI), blood pressure 1208
Obsessive-compulsive disorder 259
Ocular axial length and high myopia 192
Opiates addiction 497
Opioid sensitivity in healthy subjects 375
Optic disc area 994
Optic disc parameters 851
Optic nerve assessment 823
Osteoarthritis 218
Osteoarthritis (hand) 715
Osteoarthritis (hip) and joint-space width (cartilage thickness) 152
Osteoarthritis (knee and hip) 964
Osteoarthritis (knee) 578
Osteoarthritis (knee), in women 642
Osteonecrosis of the jaw 650
Osteoporosis 732
Osteoporotic fracture 425
Osteoporotic fractures (hip) 1087
Otitis media 350
Otosclerosis 689
Ovarian cancer 230
Ovarian cancer survival 262
Ovarian failure (premature ovarian failure) 716
Ovarian follicle number and menopause 198
Ovarian response to FSH stimulation in IVF 996
Oxidized LDL cholesterol levels 395
Paclitaxel sensitivity in NCI60 cancer cell lines 995
Paclitaxel-induced sensory peripheral neuropathy 247
Paget’s disease of bone 831
Pain relief with opioid treatment 1052
Pancreatic adenocarcinoma 372
Pancreatic cancer 724
Pancreatic cancer and survival 180
Pancreatic cancer, survival with gemcitabine treatment 1190
Panic disorder 362
Paraoxonase activity 368
Paraoxonase and arylesterase activities in serum 298
Parkinson’s disease 87
Parkinson’s disease (early onset) 269
Parkinson’s disease motor and cognitive outcomes 175
Parkinson’s disease, age at onset 739
Parkinsonism in schizophrenia patients, antipsychotic-induced 728
Pediatric eosinophilic esophagitis 806
Pelvic organ prolapse 1178
Pemphigus vulgaris 85
Percent mammographic density 133
Perception of the odorants androstenone and galaxolide 53
Pericardial fat 162
Periodontal pathogen colonization 199
Periodontitis 751
Periodontitis (chronic periodontitis) 468
Peripartum cardiomyopathy 1058
Peripheral artery disease (PAD) 860
Personality (temperament scales) 878
Personality disorders and adult ADHD 297
Personality traits 544
Personality traits and mood states 168
Personality traits and mood states (depressive affects) 409
Phosphorous concentrations, in serum 852
Physical activity 1094
Phytosterol levels, in serum 847
Pit-and-fissure- and smooth-surface carries 472
Placental abruption 381
Plasma uric acid level in obese and never-overweight individuals 559
Plasminogen activator inhibitor-1 (PAI1) levels, in plasma 853
Platelet CD36 surface expression 1022
Platelet aggregation 844
Platelet aggregation, pre-aspirin and post-aspirin 846
Platelet count (PLT) and platelet volume (MPV) 79
Platelet reactivity in patients with type 2 diabetes during acetylsalicylic acid (ASA) treatment 329
Platelet response, antiplatelets and cardiovascular outcomes 443
Platelet thrombus formation under high shear stress 140
Platelet volume (MPV) 672
Podoconiosis 95
Polycystic ovary syndrome 257
Polycystic ovary syndrome through obesity-related condition 286
Polysubstance addiction 582
Polyunsaturated fatty acid levels, in plasma 677
Post-operative nausea and vomiting 1068
Post-traumatic stress disorder (PTSD) 254
Pre-eclampsia 84
Premature ovarian failure 39
Preoperative chemoradiation therapy response in rectal cancer 482
Primary biliary cirrhosis 278
Primary nonsyndromic vesicoureteric reflex 756
Primary rhegmatogenous retinal detachment 523
Primary sclerosing cholangitis 129
Primary sclerosing cholangitis and ulcerative colitis 236
Primary tooth development during infancy 804
Primary tooth eruption 561
Progranulin levels, in plasma 941
Progressive supranuclear palsy 585
Prostate cancer 55
Prostate cancer and Type II Diabetes Mellitus 593
Prostate cancer gene 3 (PCA3) mRNA levels 508
Prostate cancer mortality 921
Prostate cancer, advanced 1082
Prostate cancer, aggressive 674
Prostate-specific antigen 404
Prostate-specific antigen (free-to-total, %fPSA), in serum 429
Prostate-specific antigen levels in men, in serum 962
Protein C levels and protein S levels, in plasma 1205
Protein expression in blood cell lines 2
Protein expression in blood plasma 163
Protein quantitative traits (42 protein levels in fasting serum and plasma: including C-reactive protein (CRP), IL6R, IL18, Lipoprotein A (LPA), GGT, IL1RN, TNFa, adiponectin, albumin, alkaline phosphatase, fibrinogen, ferritin, hemoglobin, insulin, leptin, SHBG, transferrin, thyroid stimulating hormone, MCP1) 641
Protein-C levels, in plasma 890
Pseudoexfoliation syndrome 892
Psoriasis 354
Psoriasis and psoriatic arthritis 917
Psoriasis risk prediction 972
Psoriatic arthritis 1194
Psychiatric disorders (Autism, ADHD, Bipolar disorder, Schizophrenia, Depression) 464
Pulmonary arterial hypertension 484
Pulmonary fibrosis (fibrotic idiopathic interstitial pneumonias) 522
Pulse pressure 219
Pulse pressure and mean arterial pressure 1126
Radiation-induced damage on blood cell lines 911
Recipient kidney allograft function 459
Recombination rate 629
Refractive errors 475
Renal cancer 376
Renal cell carcinoma 956
Renal cell carcinoma in stem cell transplantation 1081
Renal sinus fat accumulation 1161
Response to TNF_ inhibitors in patients with rheumatoid arthritis 154
Response to anti-TNF treatment in arthritis 509
Response to antidepressants 738
Response to antidepressants (citalopram-induced side effects) 217
Response to antidepressants (escitaloprim, nortriptyline) 817
Response to antidepressants (selective serotonin reuptake inhibitors (SSRIs)) 268
Response to antidepressants (sustained antidepressant response) 572
Response to antipsychotics 748
Response to antipsychotics (olanzapine, quetiapine, risperidone, ziprasidone, perhpenazine) 733
Response to antipsychotics in schizophrenia (treatment refractory) 108
Response to atorvastatin 57
Response to cholinesterase inhibitors in Alzheimer’s disease 435
Response to citalopram in major depressive disorder 861
Response to clopidogrel (anti-platelet), variation in 731
Response to fenofibrate 261
Response to fenofibrate treatment on inflammation biomarkers 9
Response to gemcitabine or arabinosylcytosin in blood cell lines 752
Response to glucocorticoid therapy in asthma 1140
Response to glucose and GLP-1-infusion on insulin secretion 552
Response to glucose and insulin 782
Response to glucose in plasma 520
Response to influenza vaccination 113
Response to interferon beta in multiple sclerosis 627
Response to lithium treatment in bipolar disorder 708
Response to metformin 968
Response to methylphenidate treatment 954
Response to pegylated interferon-alpha and ribavirin treatment in chronic hepatitis C 729
Response to platinum-based chemotherapy in small-cell lung cancer 836
Response to simvastatin 341
Response to statin treatment (atorvastatin), change in cholesterol levels 766
Response to statin treatment (simvastatin, pravastatin, atorvastatin), change in cholesterol levels 813
Response to statins 43
Response to statins (simvastatin, lovastatin) in NCI60 cancer cell lines 1025
Response to thiazide diuretic (hydrochlorothiazide) 649
Response to tocilizumab for the treatment of rheumatoid arthritis 114
Response to treatment (fludarabine, chlorambucil, combination) in chronic lymphocytic leukemia 1057
Response to treatment and survival on dialysis in T2D patients 1041
Response to treatment in pediatric acute lymphoblastic leukemia 680
Response to treatment with analgesics (midazolam, lidocaine) 687
Restenosis after percutaneous coronary intervention (PCI) 741
Resting heart rate 865
Restless leg syndrome 596
Retinal vascular caliber 932
Retinopathy (diabetic retinopathy) 5
Retinopathy (non-diabetic) 444
Rheumatoid arthritis 92
Rheumatoid arthritis, anti-TNF response in 933
Rheumatoid arthritis, cyclic citrullinated peptide (CCP) positive 618
SSRI/SNRI-induced sexual dysfunction in depression 90
Salmonella induced pyroptosis in B-lymphoblastoid cell lines 244
Sarcoidosis 243
Sasang constitution 69
Schizophrenia 58
Schizophrenia and bipolar disorder 370
Schizophrenia and bipolar disorder (joint pleiotropy) 538
Schizophrenia and brain fMRI during sensorimotor tasks 88
Schizophrenia symptoms (positive, negative/disorganized, mood) 385
Schizophrenia with formal thought disorder (disorganized speech) 173
Schizophrenia with negative symptoms 441
Schizophrenia, age at onset 1066
Schizophrenia, bipolar disorder and depression 887
Schizophrenia, treatment response to risperidone 747
Second to fourth digit length ratio 399
Selenium concentration, serum 558
Selenium resistance in NCI60 cancer cell lines 895
Self-employment 526
Self-rated health 884
Severity of response to H1N1 infection 195
Sex hormone-binding globulin (SHBG) concentrations 239
Sexual dysfunction (female) 125
Sick sinus syndrome 1007
Sickle cell anemia (haemolytic anemia) 448
Sickle cell anemia total bilirubin and cholelithiasis risk 145
Sickle cell anemia with elevated tricuspid regurgitation velocity 188
Sickle cell anemia, severity 761
Skin cancer (basal cell carcinoma) 665
Skin cancer (cutaneous basal cell carcinoma and squamous cell carcinoma) 1072
Skin cancer (cutaneous basal cell carcinoma) 1133
Skin cancer (cutaneous melanoma) 1128
Skin cancer (cutaneous nevi and melanoma risk) 1023
Skin cancer (malignant melanoma) 575
Skin cancer (melanoma) 465
Skin naphthyl-keratin adduct levels in workers exposed to naphthalene 68
Skin pigmentation 620
Skin pigmentation and skin cancer 507
Sleep and circadian phenotypes 617
Sleep apnea 366
Sleep duration 1179
Smallpox vaccine cytokine responses 164
Soluble CD14 369
Soluble E-selectin levels, in plasma, in women 788
Soluble E-selectin levels, in serum 736
Soluble ICAM-1 levels, in women 1037
Soluble ICAM1 (sICAM) levels, in plasma, in women 651
Soluble P-selectin levels and soluble ICAM-1 levles 796
Soluble leptin receptor (sOB-R) levels, in plasma 795
Spine bone size 383
Spontaneous resolution of hepatitis C virus 453
Statin-Induced reductions in C-Reactive Protein 11
Statin-induced (cerivastatin) rhabdomyolysis 1010
Statin-induced myopathy 652
Stevens-Johnson syndrome 916
Stevens-Johnson syndrome and toxic epidermal necrolysis 974
Stressful life events 391
Stroke 551
Stroke in sickle cell anemia patients 455
Stroke, atherothrombotic 773
Stroke, ischemic 320
Stroke, ischemic stroke and large artery atherosclerosis 281
Stroke, large vessel ischemic 33
Stroke, pediatric 302
Subclinical atherosclerosis (coronary artery calcium, abdominal artery calcium, ankle-brachial index, carotid intimal media thickness) 613
Subcutaneous adipose tissue volume in HIV-infected men 1118
Subjective response to d-amphetamine in healthy subjects 288
Substance dependence 1101
Sudden cardiac arrest 818
Sudden cardiac death 524
Suicidal ideation with antidepressant (escitaloprim, nortriptyline) treatment 908
Suicidal ideation with antidepressant treatment 1156
Suicidal ideation with citalopram treatment 734
Suicide attempts in bipolar disorder patients 926
Suicide, with and without major depression 1165
Systemic lupus erythematosus 28
Systemic lupus erythematosus, in women 628
Systemic lupus erythematosus, rheumatoid arthritis 328
Systemic lupus erythematosus, serologic and cytokine (interferon gamma) profiles in serum in 870
Systemic sclerosis 755
Tamoxifen sensitivity and gene expression in blood cell lines 488
Tamsulosin hydrochloride pharmacokinetics in benign prostatic hyperplasia 364
Tanning ability 698
Tardive dyskinesia 915
Taste perception 876
Tau biomarkers (Ab1-42, t-tau, p-tau181p), in cerebrospinal fluid (CSF) 950
Tau protein levels, in cerebrospinal fluid (CSF) 912
Taxane response in lymphoblastoid cell lines and taxane-treated lung cancer survival 308
Telomere length 306
Telomere length (mean telomere length) 501
Temozolomide response in lymphoblastoid cell lines 324
Temperament 240
Temperament in bipolar disorder 54
Temporal lobe volumes 805
Testicular dysgenesis syndrome 1188
Testicular germ cell carcinoma 712
Testicular germ cell tumor 547
Testosterone concentration in men, in serum 1142
Tetralogy of Fallot 412
Theta band oscillations and alcohol dependence 967
Thiazolidinedione-induced edema 863
Thoracic aortic aneurysms and aortic dissections 1123
Thyroid cancer 686
Thyroid cancer, radiation-related 815
Thyroid function 117
Thyroid volume and goiter risk 1042
Thyrotoxic hypokalemic periodic paralysis 71
Thyrotoxic periodic paralysis 250
Thyrotropin and thyroid function, in serum 894
Total body bone mineral density 226
Tourette’s syndrome 260
Toxicity after 5-fluorouracil or FOLFOX administration for colorectal cancer 35
Trabecular and cortical volumetric BMD, bone microstructure 461
Transferrin glycosylation, in serum 1059
Transmission distortion 60
Treatment responses in severe sepsis 36
Tremors, antipsychotic-induced 1139
Trichophyton tonsurans susceptibility 204
Triglycerides levels, in serum, in men 1195
Troponin levels (highly sensitive cardiac troponin-T levels), in plasma 394
Tuberculosis 17
Tuberculosis (early age of onset) 141
Type I Diabetes 316
Type I Diabetes, autoantibody positivity in 1107
Type I Diabetes, serum ZnT8 autoantibody levels in 132
Type II Diabetes Mellitus 16
Type II Diabetes Mellitus (gestational diabetes) 13
Type II Diabetes Mellitus and gene expression in muscle and adipose tissue 1055
Type II Diabetes Mellitus and prostate cancer 516
Ulcerative colitis 491
Ulcerative colitis and Crohn’s disease 1070
Ulcerative colitis, refractory 900
Upper airway tract cancer 1016
Urate (in serum), gout 400
Uric acid levels, in serum 10
Urinary bladder cancer 659
Urinary symptoms following radiotherapy for prostate cancer 436
Uterine fibroids (benign tumors) 1019
Uterine leiomyomata 319
VLDL, LDL and HDL cholesterol particle size 398
Valvular calcification and aortic stenosis 442
Vascular dementia 1180
Vascular endothelial growth factor (VEGF) levels, in serum 1085
Venous thromboembolism 182
Venous thrombosis 186
Ventricular dysfunction after primary coronary artery bypass graft surgery 1136
Ventricular fibrillation in acute MI 862
Visceral adipose tissue-derived serine protease inhibitor (vaspin) 267
Visceral leishmaniasis 410
Visual cortical surface area 46
Vitamin A (retinol), circulating levels 1116
Vitamin B12 levels, in plasma, in women 657
Vitamin B12, in serum 56
Vitamin D (25(OH)D), circulating levels 827
Vitamin D concentrations 850
Vitamin E, circulating levels 1078
Vitiligo 287
Vitiligo, generalized 148
Waist circumference 639
Waist:hip ratio 914
Warfarin dose 648
Warfarin dose (acenocoumarol) 720
Warfarin responsiveness 897
Warfarin responsiveness (phenprocoumon) 935
Weight loss after Roux-en-Y gastric bypass surgery 537
Wheezing after influenza vaccination in children 1011
Wilms tumor 138
YKL-40 levels, in serum 634
_(2) -GPI levels, in plasma 406
_2-adrenoceptor-mediated vasoconstriction 423
t(11;14)(q13;q32) translocation in multiple myeloma 485
vWF levels, in plasma 403

PhenoCat

The following 179 phenotype categories can be searched by alias or category:

Category ID Alias
Addiction 81 addiction
Adipose-related 84 adipose
Adverse drug reaction (ADR) 49 adr
Age-related macular degeneration (ARMD) 133 armd
Aging 44 aging
Alcohol 115 alcohol
Allergy 145 allergy
Alzheimer’s disease 99 alzheimers
Amyotrophic lateral sclerosis (ALS) 112 als
Anemia 127 anemia
Aneurysm 105 aneurysm
Anthrax 131 anthrax
Anthropometric 72 anthropometric
Arterial 106 arterial
Arthritis 61 arthritis
Asthma 1 asthma
Atrial fibrillation 123 afib
Attention-deficit/hyperactivity disorder (ADHD) 108 adhd
Autism 95 autism
Basal cell cancer 176 basal_cell_cancer
Behavioral 23 behavioral
Bipolar disorder 24 bipolar
Bladder cancer 165 bladder_cancer
Bleeding disorder 153 bleeding_disorder
Blood 177 blood
Blood cancer 52 blood_cancer
Blood pressure 59 bp
Blood-related 8 blood
Body mass index 75 bmi
Bone cancer 160 bone_cancer
Bone-related 47 bone
Brain cancer 111 brain_cancer
Breast cancer 25 breast_cancer
C-reactive protein (CRP) 29 crp
CVD 178 cvd
CVD risk factor (CVD RF) 27 cvd_risk
Calcium 155 calcium
Cancer 10 cancer
Cancer-related 86 cancer_related
Cardiomyopathy 152 cardiomyopathy
Cardiovascular disease (CVD) 38 cvd
Celiac disease 162 celiac
Cell line 9 cell_line
Cervical cancer 158 cervical_cancer
Chronic kidney disease 113 chronic_kidney_disease
Chronic lung disease 3 chronic_lung_disease
Chronic obstructive pulmonary disease (COPD) 140 copd
Cognition 107 cognition
Colorectal cancer 66 colorectal_cancer
Congenital 96 congenital
Coronary heart disease (CHD) 120 chd
Crohn’s disease 63 crohns
Cystic fibrosis 110 cf
Cytotoxicity 169 cytotoxicity
Dental 48 dental
Depression 104 depression
Developmental 43 developmental
Diet-related 100 diet
Drug response 26 drug_response
Drug treatment 179 drug_treatment
Emphysema 168 emphysema
Endometrial cancer 11 endometrial_cancer
Environment 87 environment
Epigenetics 22 epigenetics
Epilepsy 83 epilepsy
Esophageal cancer 70 espohageal_cancer
Eye-related 17 eye
Female 14 female
Gallbladder cancer 67 gallbladder_cancer
Gallstones 125 gallstones
Gastric cancer 147 gastric_cancer
Gastrointestinal 65 gi
Gender 13 gender
Gene expression (RNA) 19 rna_expression
Gene expression (protein) 6 gene_protein_expression
General health 167 health
Glaucoma 97 glaucoma
Graft-versus-host 164 graft_v_host
Grave’s disease 94 graves
HIV/AIDS 35 hiv
Hair 124 hair
Hearing 148 hearing
Heart 37 heart
Heart failure 163 heart_failure
Heart rate 149 heart_rate
Height 128 height
Hemophilia 154 hemophilia
Hepatic 89 hepatic
Hepatitis 118 hepatitis
Hormonal 42 hormonal
Huntington’s disease 88 huntingtons
Imaging 73 imaging
Immune-related 50 immune
Infection 33 infection
Inflammation 4 inflammation
Influenza 117 flu
Kidney cancer 150 kidney_cancer
Leukemia 53 leukemia
Lipids 28 lipids
Liver cancer 136 liver_cancer
Lung cancer 58 lung_cancer
Lymphoma 54 lyphoma
Male 78 male
Manic depression 175 manic
Melanoma 157 melanoma
Menarche 134 menarche
Menopause 45 menopause
Methylation 21 methylation
Mood disorder 166 mood_disorder
Mortality 31 mortality
Movement-related 130 movement
Multiple sclerosis (MS) 109 ms
Muscle-related 93 muscle
Musculoskeletal 114 msk
Myasthenia gravis 146 myasthenia
Myocardial infarction (MI) 39 mi
Narcotics 139 narc
Nasal 71 nasal
Nasal cancer 151 nasal_cancer
Neuro 20 neuro
Obsessive-compulsive disorder (OCD) 142 ocd
Oral cancer 119 oral_cancer
Oral-related 46 oral
Ovarian cancer 135 ovarian_cancer
Pain 143 pain
Pancreas 57 pancreas
Pancreatic cancer 56 pancreatic_cancer
Parkinson’s disease 101 parkinsons
Physical activity 16 activity
Plasma 76 plasma
Platelet 98 platlet
Pregnancy-related 32 pregnancy
Prostate cancer 79 prostate_cancer
Protein expression 7 protein_expression
Pulmonary 2 pulmonary
Quantitative trait(s) 5 quantitative
Radiation 144 radiation
Rectal cancer 159 rectal_cancer
Renal 91 renal
Renal cancer 122 renal_cancer
Reproductive 12 reproductive
Rheumatoid arthritis 62 rheumatoid
Salmonella 141 salmonella
Schizophrenia 80 schizophrenia
Serum 30 serum
Sickle cell anemia 126 sickle_cell
Skin cancer 156 skin_cancer
Skin-related 69 skin
Sleep 68 sleep
Smallpox 121 smallpox
Smoking 82 smoking
Social 90 social
Stone 92 stone
Stroke 51 stroke
Subclinical CVD 77 subclin_cvd
Surgery 36 surgery
Systemic lupus erythematosus (SLE) 55 sle
T2D-related 170 t2d_related
Testicular cancer 161 testicular
Thrombosis 103 thrombosis
Thyroid 41 thyroid
Thyroid cancer 40 thyroid_cancer
Treatment response 15 treatment_response
Treatment-related 171 treatment
Tuberculosis 34 tb
Type 1 diabetes (T1D) 60 t1d
Type 2 diabetes (T2D) 18 t2d
Ulcerative colitis 138 ulc_colitis
Upper airway tract cancer 172 upper_airway_cancer
Urinary 85 urinary
Uterine cancer 173 uterine_cancer
Uterine fibroids 174 uterine_fibroids
Vaccine 116 vaccine
Valve 132 valve
Vasculitis 137 vasculitis
Venous 102 venous
Weight 74 weight
Wound 64 wound
miRNA 129 mirna

Population

The following populations are available in the Population table:

Population ID
Hispanic 1
European 2
Mixed 3
African 4
Asian 5
Unspecified 6
Indian/South Asian 7
Micronesian 8
Arab/ME 9
Native 10
Filipino 11
Indonesian 12

PopFlags

The following populations are available in the Population table:

FLAG Label
1 eur
2 afr
4 east_asian
8 south_asian
16 his
32 native
64 micro
128 arab
256 mix
512 uns
1024 filipino
2048 indonesian

Indices and tables