Genotype to Phenotype
Allele Frequency
Clinical Knowledge
- Gene & Variant Impact Databases
- Brotman Baty Institute Clinical Variant Database (BBI-CVD)
- ClinGen Clinical Genome
- ClinGen Evidence Repository
- ClinVar
- ClinVar Miner
- Database of Genomic Variants (DGV)
- dbVar
- Human Gene Mutation Database (HGMD)
- Leiden Open Variation Database (LOVD)
- MaveDB
- Oligogenic Diseases Database (OLIDA)
- VARAdb
- Matchmaker Exchanges
- GeneMatcher
- GenomeConnect
- Genome-Phenome Analysis Platform (GPAP)
- MyGene2
- PhenomeCentral
- Seqr
- Undiagnosed Diseases Network (UDN)
- VariantMatcher
- Disease-Gene-Phenotype Relationship Databases
- ClinGen Gene-Disease Validity
- Database of Genotypes and Phenotypes (dbGaP)
- DisGeNET
- GeDiPNet
- Gene Curation Coalition Database (GenCC DB)
- Gene-Similarity from Continuous Traits (Gene-SCOUT)
- Genotype to Mendelian Phenotype (Geno2MP)
- Gene2Phenotype (G2P)
- HuGE
- MalaCards
- MILTON Browser
- Monarch Initiative
- Phenotype-Genotype Integrator (PheGenI)
Functional Knowledge
- Genomic Regulation
- Database of Small Human Non-Coding RNAs (DASHR)
- ENCODE
- Functional ANnoTation Of the Mammalian genome (FANTOM)
- Functional genomics repository (FILER)
- GeneCaRNA
- GeneHancer
- Genotype-Tissue Expression Portal (GTEx)
- Harmonizome 3.0
- JASPAR
- UCNEbase
- Interactions, Pathways & Similarities
- Linkage to (Causal) Variant
- Literature Tools
- Ai2 OpenScholar-8B
- PubMed Tools
- Model Organism
- Alliance of Genome Resources
- Gene2Function (G2F)
- International Mouse Phenotyping Consortium (IMPC)
- MorPhiC
- Rare Diseases Models and Mechanisms (RDMM)
- Australian Functional Genomics Network (AFGN)
- Canadian Rare Diseases: Models & Mechanisms Network
- European Rare Disease Models & Mechanisms Network
- Japanese Rare Disease Models & Mechanisms Network
- ModelMatcher
- Singapore Rare Disease Models and Mechanisms Network
- Protein Function and Structure
Genomic Interpretation2
- Constraint Metrics
- Gene & Variant Interpretation and Annotation
- Gene-only
- Gene & Variant
- Bibliome Variant Database
- Favor
- Franklin
- Functional Mapping and Annotation of Genome-Wide Association Studies (FUMA GWAS)
- Gene4Denovo
- GeneAnalytics
- GeneBe
- Kids First Data Portal
- MARRVEL
- Mastermind
- MobiDetails
- Open Targets Genetics
- SNPedia
- VarCards2
- varSEAK
- Varsome
- Genomic Region
- Loss of Function
- Variant-only
- In-silico Predictions
- Nonsense-mediated decay
- Protein Coding & Genome-wide4, 5, 6
- AlphaMissense
- Combined Annotation Dependent Depletion (CADD)
- ESM
- Evo Designer
- PrimateAI
- Regulatory Mendelian Mutation score (ReMM)
- Splicing7, 8, 9