FAIRsharing.v1dcm3; Last edited: Jan. 8, 2019, 1:21 p.m.; Last accessed: Jan 03 2022 7:09 p.m.

metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

Digenic Diseases Database (DIDA)
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:48.248973

dida
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:48.248973

Other names: DIDA, Digenic Diseases Database (DIDA), dida

DIDA (DIgenic diseases DAtabase) is a novel database that provides for the first time detailed information on genes and associated genetic variants involved in digenic diseases, the simplest form of oligogenic inheritance.

Webpage:

http://dida.ibsquare.be

Publications:

Publications
More detailed information about this field from each metasource.

DIDA: A curated and annotated digenic diseases database
PMID: 26481352
metasource: Fairsharing.org
version: FAIRsharing.org: DIDA; Digenic diseases database; DOI: https://doi.org/10.25504/FAIRsharing.v1dcm3; Last edited: Jan. 8, 2019, 1:21 p.m.; Last accessed: Jan 03 2022 7:09 p.m.

metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:48.248973

http://dx.doi.org/10.1093/nar/gkv1068
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

DIDA: A curated and annotated digenic diseases database PubMed citations: 45.

45 articles citing: DIDA: A curated and annotated digenic diseases database

An accurate prediction model of digenic interaction for estimating pathogenic gene pairs of human diseases. PMID:35891796
New Developments and Possibilities in Reanalysis and Reinterpretation of Whole Exome Sequencing Datasets for Unsolved Rare Diseases Using Machine Learning Approaches. PMID:35743235
Scaling up oligogenic diseases research with OLIDA: the Oligogenic Diseases Database. PMID:35411390
Identification of Novel Mutations in Chinese Infants With Citrullinemia. PMID:35309121
Rare disorders have many faces: in silico characterization of rare disorder spectrum. PMID:35193637
Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder? PMID:35052418
Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge. PMID:34829491
Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report. PMID:34691137
Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network. PMID:34529933
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases. PMID:34448047
Digenic Variants in the TTN and TRAPPC11 Genes Co-segregating With a Limb-Girdle Muscular Dystrophy in a Han Chinese Family. PMID:33746696
The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease. PMID:33519890
The GENDULF algorithm: mining transcriptomics to uncover modifier genes for monogenic diseases. PMID:33438800
Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB. PMID:33363762
MitImpact 3: modeling the residue interaction network of the Respiratory Chain subunits. PMID:33300029
A genome-wide case-only test for the detection of digenic inheritance in human exomes. PMID:32719112
Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria. PMID:32311027
Precision medicine - networks to the rescue. PMID:32199228
Genetic Modifiers and Rare Mendelian Disease. PMID:32106447
Digenic Variants as Possible Clinical Modifier of Primary Familial Brain Calcification Patients. PMID:31768941
Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways. PMID:31696992
Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss. PMID:31412945
ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations. PMID:31147699
Predicting disease-causing variant combinations. PMID:31127050
Uncovering Missing Heritability in Rare Diseases. PMID:30987386
Semantic Disease Gene Embeddings (SmuDGE): phenotype-based disease gene prioritization without phenotypes. PMID:30423077
Limb Girdle Muscular Dystrophy due to Digenic Inheritance of DES and CAPN3 Mutations. PMID:30323756
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants. PMID:30279426
The classification, genetic diagnosis and modelling of monogenic autoinflammatory disorders. PMID:30185613
Computational resources associating diseases with genotypes, phenotypes and exposures. PMID:30102366
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond. PMID:29867916
Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features. PMID:29599744
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies. PMID:29588463
Clinical Implications of Digenic Inheritance and Epistasis in Primary Immunodeficiency Disorders. PMID:29434582
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis. PMID:28966547
Understanding mutational effects in digenic diseases. PMID:28911095
eDGAR: a database of Disease-Gene Associations with annotated Relationships among genes. PMID:28812536
Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome. PMID:28453858
CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism. PMID:28324054
Comprehensive Maturity Onset Diabetes of the Young (MODY) Gene Screening in Pregnant Women with Diabetes in India. PMID:28095440
InterPro in 2017-beyond protein family and domain annotations. PMID:27899635
The Human Phenotype Ontology in 2017. PMID:27899602
Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients. PMID:27627659
Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1. PMID:27086651
The 2016 database issue of Nucleic Acids Research and an updated molecular biology database collection. PMID:26740669
http://dx.doi.org/10.1093/nar/gkv1068

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digenic inheritance
metasource: Fairsharing.org
version: FAIRsharing.org: DIDA; Digenic diseases database; DOI: https://doi.org/10.25504/FAIRsharing.v1dcm3; Last edited: Jan. 8, 2019, 1:21 p.m.; Last accessed: Jan 03 2022 7:09 p.m.

genetic polymorphism
metasource: Fairsharing.org
version: FAIRsharing.org: DIDA; Digenic diseases database; DOI: https://doi.org/10.25504/FAIRsharing.v1dcm3; Last edited: Jan. 8, 2019, 1:21 p.m.; Last accessed: Jan 03 2022 7:09 p.m.

human genes and diseases
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

general human genetics databases
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

genomics
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:48.248973

genotype and phenotype
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:48.248973

genetic variation
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:48.248973

pathology
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:48.248973

rare diseases
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:48.248973

digenic inheritance polymorphism human genes and diseases general human genetics genomics genotype and phenotype genetic variation pathology rare diseases

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