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).
Digenic combination information
For published data: Pubmed identifier of the related publication
(e.g. PMID:10086971) (resource: PubMed)
For unpublished data: has the patient consented to the anonymous sharing of phenotypic information in public databases for academic purposes? When selected 'No', only molecular genetic information about this digenic combination will be added to DIDA.
For published data: patient identifier as mentioned in the related publication
HPO terms to define clinical findings and/or symptoms of the patient
(e.g HP:0001657;HP0001279;HP:0001664) (resource: Phenomizer)
Familial evidence for digenicity
(select all options that apply)
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
Functional evidence for digenicity
(select all options that apply)
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.
Name of the disease as available in Orphanet
(e.g. familial long qt syndrome) (resource: Orphanet)
International Classification of Diseases (ICD10) disease identifier
(e.g. I45.8) (resource: ICD10 online version)
You can provide additional information here