PAH (Gene)

Organism:

Homo sapiens

Synonyms:ENTREZ:5053, HGNC:8582, MIM:612349, NM_000277, NM_001354304, NP_000268, NP_001341233, PAH, PH, PKU, PKU1, XM_017019370, XP_016874859, phenylalanine hydroxylase

Omim:OMIM:612349

Id:ENSG00000171759

Hgnc:HGNC:8582

Entrez:5053

Ensembl:ENSG00000171759

Description:phenylalanine hydroxylase

This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017]

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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View PAH's neighborhood in the knowledge graph.

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Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with PAH.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using PAH.

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GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for PAH.

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Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with PAH.

Results found

Linked to

	Label	Description
	GSE238213 dopamine 2 v 4 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE151412 sorafenib 2 v 1 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE208350 H-7 Huh-7 JHH-7 0 v 8 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE242333 sorafenib 0 v 2 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE228430 FABP5 inhibition Huh-7 2 v 0 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE125862 2 V 0 DEXAMETHASONE HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE222047 0 V 1 IMIDAZOLE HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE151412 2 V 1 SORAFENIB HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE239844 crizotinib 6 v 0 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE74251 decitabine MCF-7 0 v 1 human up Gene Set (Entity type)	A Gene Set from LINCS

GSE238213 dopamine 2 v 4 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE151412 sorafenib 2 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE208350 H-7 Huh-7 JHH-7 0 v 8 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE242333 sorafenib 0 v 2 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE228430 FABP5 inhibition Huh-7 2 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE125862 2 V 0 DEXAMETHASONE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE222047 0 V 1 IMIDAZOLE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE151412 2 V 1 SORAFENIB HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE239844 crizotinib 6 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE74251 decitabine MCF-7 0 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

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@CFDE Workbench 2026

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

This repository is under review for potential modification in compliance with Administration directives.