Sources

We are grateful to the many original sources of our data to enable PubCaseFinder to integrate them in this manner.


Source Version / Ingest Date Ingested Data License
BodyParts3D/Anatomography 2024 3D polygon data used on the BodyParts3D License URL
GenCC 2024-03-11 Desease-Gene associations for OMIM and Orphanet diseases
GenCC Data
License URL
GeneReviews 2024-03-11 Relationships between GeneReviews and OMIM
NBKid_shortname_OMIM.txt
License URL
Genetic Testing Registry (GTR) 2024-03-11 Relationships between GTR and Mondo
Mondo Disease Ontology
(Re)usable Data Project
Human Phenotype Ontology v2024-03-06 English terms of phenotypic abnormalities encountered in human disease,
Desease-Phenotype associations for OMIM and Orphanet diseases
Human Phenotype Ontology
HPO Annotations
(Re)usable Data Project
Human Phenotype Ontology Japanese 2024-03-11 Japanese terms of phenotypic abnormalities encountered in human disease
Human Phenotype Ontology Japanese
Human Phenotype Ontology Japanese (Inheritance)
(Re)usable Data Project
J-GLOBAL 2021 Bibliographic information of case reports in J-GLOBAL -
J-STAGE 2021 Bibliographic information of case reports in J-STAGE -
KEGG Disease 2024-03-11 A collection of disease entries, each containing a list of human disease genes and/or pathogens
Copyright and Disclaimer
MedGen 2024-03-11 Mode of inheritances for OMIM diseases,
Desease-Gene associations for OMIM diseases
MedGen_HPO_OMIM_Mapping.txt.gz
mim2gene_medgen
License URL
Monarch Disease Ontology 2024-03-04 English terms of rare and genetic diseases
Mondo Disease Ontology
(Re)usable Data Project
Monarch Disease Ontology Japanese 2024-03-11 Japanese terms of rare and genetic diseases
-
Nanbyo Disease Ontology 2023-11-28 Japanese terms of rare and genetic diseases
Nanbyo Disease Ontology
License URL
NCBI Gene 2024-03-11 Gene information for Homo sapiens
Gene summary for Homo sapiens
Homo_sapiens.gene_info.gz
NCBI_gene_summary.txt
License URL
Orphanet 2023-12-04 Desease-Gene associations for Orphanet diseases
Desease-Phenotype associations for Orphanet diseases
en_product6.xml
en_product4.xml
(Re)usable Data Project
PubMed 2024 Bibliographic information of case reports in PubMed License URL
UR-DBMS 2024-03-11 Relationships between UR-DBMS and OMIM/Orphanet
Relationships between UR-DBMS and OMIM
Relationships between UR-DBMS and Orphanet
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