Comments (2)
Seems to be the same file with different column order. What frequencies does it include?
from cellbase.
original file, "ALL_SOURCES_ALL_FREQUENCIES_diseases_to_genes_to_phenotypes.txt":
#Format: diseaseId<tab>gene-symbol<tab>gene-id(entrez)<tab>HPO-ID<tab>HPO-term-name
OMIM:614652 PDSS2 57107 HP:0002133 Status epilepticus
OMIM:614652 PDSS2 57107 HP:0000093 Proteinuria
OMIM:614652 PDSS2 57107 HP:0100704 Cortical visual impairment
OMIM:614652 PDSS2 57107 HP:0002151 Increased serum lactate
OMIM:614652 PDSS2 57107 HP:0000007 Autosomal recessive inheritance
OMIM:614652 PDSS2 57107 HP:0000100 Nephrotic syndrome
OMIM:614652 PDSS2 57107 HP:0001319 Neonatal hypotonia
OMIM:614652 PDSS2 57107 HP:0011968 Feeding difficulties
new file, "phenotype_to_genes.txt":
#Format: HPO-id<tab>HPO label<tab>entrez-gene-id<tab>entrez-gene-symbol<tab>Additional Info from G-D source<tab>G-D source<tab>disease-ID for link
HP:0000002 Abnormality of body height 3954 LETM1 - mim2gene OMIM:194190
HP:0000002 Abnormality of body height 197131 UBR1 - mim2gene OMIM:243800
HP:0000002 Abnormality of body height 79633 FAT4 orphadata ORPHA:314679
HP:0000002 Abnormality of body height 7051 TGM1 orphadata ORPHA:79394
HP:0000002 Abnormality of body height 4841 NONO - mim2gene OMIM:300967
HP:0000002 Abnormality of body height 1280 COL2A1 - mim2gene OMIM:150600
HP:0000002 Abnormality of body height 3897 L1CAM - mim2gene OMIM:303350
HP:0000002 Abnormality of body height 124583 CANT1 - mim2gene OMIM:251450
HP:0000002 Abnormality of body height 2317 FLNB - mim2gene OMIM:112310
HP:0000002 Abnormality of body height 4575 TRNS2 orphadata ORPHA:551
from cellbase.
Related Issues (20)
- Cellbase gene services wrong behavior for for some genes (we've counted 3604 in GRCh37)
- Conservation queries - duplicate code
- Parse OBO file HOT 4
- Java 11 - Jaxb isn't on the classpath by default HOT 1
- Unable to get the population frequency for variant HOT 1
- Kubernetes/Helm deployment for Cellbase
- Transcripts end point broken when using a replica set HOT 2
- Add scores according to the variant effect on splicing
- Use Ensembl REST API instead of Perl API
- Error in CellBase 5.0 transcript endpoints HOT 2
- Add HGNC IDs
- RefSeq transcript flags lack MANE annotation
- Migrate Docker images to Debian 11 and other improvements
- Improve GitHub Actions CI/CD Pipeline
- Add HGMD support
- Cellbase public endpoint? HOT 2
- Could not create index for collection genome_info: no defined index was found
- Issues with cellbase URL for gnomad?
- Server down
Recommend Projects
-
React
A declarative, efficient, and flexible JavaScript library for building user interfaces.
-
Vue.js
🖖 Vue.js is a progressive, incrementally-adoptable JavaScript framework for building UI on the web.
-
Typescript
TypeScript is a superset of JavaScript that compiles to clean JavaScript output.
-
TensorFlow
An Open Source Machine Learning Framework for Everyone
-
Django
The Web framework for perfectionists with deadlines.
-
Laravel
A PHP framework for web artisans
-
D3
Bring data to life with SVG, Canvas and HTML. 📊📈🎉
-
Recommend Topics
-
javascript
JavaScript (JS) is a lightweight interpreted programming language with first-class functions.
-
web
Some thing interesting about web. New door for the world.
-
server
A server is a program made to process requests and deliver data to clients.
-
Machine learning
Machine learning is a way of modeling and interpreting data that allows a piece of software to respond intelligently.
-
Visualization
Some thing interesting about visualization, use data art
-
Game
Some thing interesting about game, make everyone happy.
Recommend Org
-
Facebook
We are working to build community through open source technology. NB: members must have two-factor auth.
-
Microsoft
Open source projects and samples from Microsoft.
-
Google
Google ❤️ Open Source for everyone.
-
Alibaba
Alibaba Open Source for everyone
-
D3
Data-Driven Documents codes.
-
Tencent
China tencent open source team.
from cellbase.