SUBMIT

Share your digenic data

One of the goals of DIDA is to collect and maintain all novel information related to human digenic diseases.

Do you have new genetic data of patients with a digenic disease that you want to share with the scientific community? Then you are at right place since this page allows you to submit your data to DIDA.

New submissions will only be accepted after careful manual inspection.

The prerequisites for submitting data to DIDA are:

  • Evidence for digenic status of the patient: the variant genotypes at two loci explain the phenotype of the patient more clearly than the genotypes at one locus alone.
  • The patient must have at least two variants in two different genes. Gene names and variant positions should be submitted. All intronic, exonic and variants in promotor regions will be accepted.
  • For now only single nucleotide variants and short indels will be accepted. We are currently not considering large insertions/deletions or copy number variants.

SUBMIT DATA TO DIDA

Use this form to submit data to our database.

All fields that apply to the specific situation of the digenic combination are required. The attributes present in the DIDA database, that are absent from this submission form, will be automatically retrieved from the corresponding databases by the DIDA staff. The user will receive an email when the submitted data is added to the online version of DIDA, stating the corresponding digenic combination ID(s).

User details






Digenic combination information



Yes
No


Male
Female



unknown mode of inheritance: index patient has this digenic combination, no parental or familial screening was performed

case cohort: index patient and other unrelated patient(s) with similar phenotype have this digenic combination

de novo on/off: de novo digenic combination in affected index, both unaffected parents carrier of one variant

de novo severity: de novo digenic combination in severly affected index, both mildly affected parents carrier of one variant

perfect familial co-segregation: multiple affected siblings and family members tested, the digenic combination is fully penetrant and co-segregates with phenotype

imperfect familial co-segregation: multiple affected siblings and family members tested, the digenic combination co-segregates with phenotype but with incomplete penetrance

other:

functional effect of digenic combination unknown

gene level - protein interactions: physical interaction between both gene products.

gene level - biochemical function: both gene products share a biochemical function implicated in the disease-of-interest or consistent with the phenotype.

gene level - expression: both gene products are expressed in tissues relevant to the disease-of-interest and/or are altered in expression in patients who have the diseasse.

gene level - model systems: non-human animal or cell-culture systems with a similarly disrupted copy of both genes show a phenotype consistent with the human disease state.

gene level - rescue: the cellular phenotype in patient-derived cells or engineered equivalents can be rescued by addition of the wild-type gene products.

variant level - gene disruption: the variants significantly alter levels, splicing or normal biochemical function of the product of the affected genes. This is shown either in patient cells or a well-validated in vitro model system.

variant level - phenotype recapitulation: introduction of the variants, or engineered gene products carrying the variants, into a cell line or animal model results in a phenotype that is consistent with the disease and that is unlikely to arise from disruption of genes selected at random.

variant level - rescue: the cellular phenotype in patient-derived cells, model organisms, or engineered equivalents can be rescued by the addition of the wild-type gene products or specific knockdown of the variants.

other:

Disease information




Gene A - variant 1 informationGene B - variant 1 information
















Gene A - variant 2 information (only for tri-allelic or tetra-allelic cases)Gene B - variant 2 information (only for tri-allelic or tetra-allelic cases)