gene (or SNP) related to a disease

Question

[yliueagle]

Is there an authoritative database to find which genes (SNPs) are already known for which disease? With no limit on the study method. Thanks! (New to biology)

Answer 1

[Chris Evelo]

Have a look at DisGeNET. It is a very well done and well supported database that aggregates and curates information from other sources. We are happy to use it in Open PHACTS (which also offers another way to access it).

[yliueagle]

Thanks for advising

Answer 2

[Emily]

The GWAS catalogue might be worth a look. Otherwise ClinVar.

[yliueagle]

Thanks for your advice. I am trying it.

Answer 3

[Sean Davis]

A database of interest is GRASP.

GRASP v1.0 contains >6.2 million SNP-phenotype association from among 1390 GWAS studies. The authors re-annotated GWAS results with 16 annotation sources including some rarely compared to GWAS results (e.g. RNAediting sites, lincRNAs, PTMs).

[yliueagle]

Thanks for your advice.

Answer 4

[always_learning]

Clinvar and biobase can be useful too.

[User 59]

I assume by BioBase you mean HGMD? BioBase are now owned by Qiagen. The public HGMD resource is here: http://www.hgmd.org/