genes_to_disease.txt
This file provides the disease to gene mappings that are used to create the phenotype.hpoa file.
File format
| ncbi_gene_id | gene_symbol | association_type | disease_id | source |
|---|---|---|---|---|
| NCBIGene:64170 | CARD9 | MENDELIAN | OMIM:212050 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
| NCBIGene:51256 | TBC1D7 | MENDELIAN | OMIM:248000 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
| NCBIGene:28981 | IFT81 | MENDELIAN | OMIM:617895 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
| NCBIGene:8216 | LZTR1 | MENDELIAN | OMIM:616564 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
The association types are:
- MENDELIAN
- POLYGENIC
- UNKNOWN