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julie-sullivan avatar julie-sullivan commented on September 9, 2024

http://compbio.charite.de/jenkins/job/hpo.annotations/lastStableBuild/artifact/util/annotation/phenotype_to_genes.txt

Seems to be the same file with different column order. What frequencies does it include?

from cellbase.

julie-sullivan avatar julie-sullivan commented on September 9, 2024

original file, "ALL_SOURCES_ALL_FREQUENCIES_diseases_to_genes_to_phenotypes.txt":

#Format: diseaseId<tab>gene-symbol<tab>gene-id(entrez)<tab>HPO-ID<tab>HPO-term-name
OMIM:614652     PDSS2   57107   HP:0002133      Status epilepticus
OMIM:614652     PDSS2   57107   HP:0000093      Proteinuria
OMIM:614652     PDSS2   57107   HP:0100704      Cortical visual impairment
OMIM:614652     PDSS2   57107   HP:0002151      Increased serum lactate
OMIM:614652     PDSS2   57107   HP:0000007      Autosomal recessive inheritance
OMIM:614652     PDSS2   57107   HP:0000100      Nephrotic syndrome
OMIM:614652     PDSS2   57107   HP:0001319      Neonatal hypotonia
OMIM:614652     PDSS2   57107   HP:0011968      Feeding difficulties

new file, "phenotype_to_genes.txt":

#Format: HPO-id<tab>HPO label<tab>entrez-gene-id<tab>entrez-gene-symbol<tab>Additional Info from G-D source<tab>G-D source<tab>disease-ID for link
HP:0000002	Abnormality of body height	3954	LETM1	-	mim2gene	OMIM:194190
HP:0000002	Abnormality of body height	197131	UBR1	-	mim2gene	OMIM:243800
HP:0000002	Abnormality of body height	79633	FAT4		orphadata	ORPHA:314679
HP:0000002	Abnormality of body height	7051	TGM1		orphadata	ORPHA:79394
HP:0000002	Abnormality of body height	4841	NONO	-	mim2gene	OMIM:300967
HP:0000002	Abnormality of body height	1280	COL2A1	-	mim2gene	OMIM:150600
HP:0000002	Abnormality of body height	3897	L1CAM	-	mim2gene	OMIM:303350
HP:0000002	Abnormality of body height	124583	CANT1	-	mim2gene	OMIM:251450
HP:0000002	Abnormality of body height	2317	FLNB	-	mim2gene	OMIM:112310
HP:0000002	Abnormality of body height	4575	TRNS2		orphadata	ORPHA:551

from cellbase.

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