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tttor / csipb-jamu-prj

Ijah Webserver
http://ijah.apps.cs.ipb.ac.id
MIT License
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Link disease data to The Human Phenotype Ontology project #114

Open tttor opened 7 years ago

tttor commented 7 years ago

http://human-phenotype-ontology.github.io/

tttor commented 7 years ago

http://compbio.charite.de/jenkins/job/hpo.annotations.monthly/lastStableBuild/artifact/annotation/OMIM_ALL_FREQUENCIES_diseases_to_genes_to_phenotypes.txt

http://compbio.charite.de/jenkins/job/hpo.annotations.monthly/lastStableBuild/artifact/annotation/ALL_SOURCES_ALL_FREQUENCIES_diseases_to_genes_to_phenotypes.txt

Format: diseaseIdgene-symbolgene-id(entrez)HPO-IDHPO-term-name

ORPHANET:596 MTM1 4534 HP:0001048 Cavernous hemangioma ORPHANET:596 MTM1 4534 HP:0002346 Head tremor ORPHANET:596 MTM1 4534 HP:0001250 Seizures ORPHANET:596 MTM1 4534 HP:0001288 Gait disturbance ORPHANET:596 MTM1 4534 HP:0001252 Muscular hypotonia

OMIM:265000 CHRNG 1146 HP:0001159 Syndactyly OMIM:265000 CHRNG 1146 HP:0000508 Ptosis OMIM:265000 CHRNG 1146 HP:0000160 Narrow mouth OMIM:265000 CHRNG 1146 HP:0000218 High palate OMIM:265000 CHRNG 1146 HP:0002804 Arthrogryposis multiplex congenita

tttor commented 7 years ago

http://compbio.charite.de/hpoweb/?id=HP:0009830

tttor commented 7 years ago

http://compbio.charite.de/jenkins/job/hpo.annotations.monthly/lastStableBuild/