PAH &#160; ingelesa (Q14851781)

ensembl Release 106 ^ingelesa

proteinak kodetzen dituen genea

honen azpiklasea

Erreferentzia bat

Ensembl Release 87 ^ingelesa

irudia

Phenylalanine hydroxylase.jpg
678 × 713; 177 KB

0 erreferentzia

Homo sapiens

Erreferentzia bat

ensembl Release 106 ^ingelesa

kodetzen du

phenylalanine hydroxylase ^ingelesa

Erreferentzia bat

UniProt ^ingelesa

https://search.clinicalgenome.org/kb/gene-validity/5a617cb4-94ec-4f34-b97e-10d9808a1581--2020-04-24T16:00:00

6 uztaila 2017

UniProt protein ID ^ingelesa

P00439

genetic association ^ingelesa

3 erreferentzia

ClinGen ^ingelesa

14 abendua 2020

ClinGen ^ingelesa

25 urtarrila 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5a617cb4-94ec-4f34-b97e-10d9808a1581-2020-04-24T160000.000Z

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000171759/MONDO_0009861

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

maternal phenylketonuria ^ingelesa

Erreferentzia bat

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000171759/Orphanet_2209

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

human chromosome 12 ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

strand orientation ^ingelesa

reverse strand ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

genomic start ^ingelesa

103230663

human chromosome 12 ^ingelesa

genomic assembly ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

102836889

human chromosome 12 ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

genomic end ^ingelesa

102958410

human chromosome 12 ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

103352188

human chromosome 12 ^ingelesa

genomic assembly ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

cytogenetic location ^ingelesa

12q23.2

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NCBI Gene ^ingelesa

15 maiatza 2022

HomoloGene ID ^ingelesa

234

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Gene Atlas image ^ingelesa

PBB GE PAH 205719 s at fs.png
732 × 530; 11 KB

0 erreferentzia

PBB GE PAH 217583 at fs.png
732 × 530; 12 KB

0 erreferentzia

Pah ^ingelesa

Erreferentzia bat

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

234

Pah ^ingelesa

Arratoi arrunt

Erreferentzia bat

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

234

pah ^ingelesa

Danio rerio

Erreferentzia bat

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

234

pah-1 ^ingelesa

Caenorhabditis elegans

Erreferentzia bat

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

234

Hn ^ingelesa

ozpin-euli

Erreferentzia bat

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

234

expressed in ^ingelesa

right lobe of liver ^ingelesa

1

Erreferentzia bat

Bgee ^ingelesa

28 apirila 2022

Behazun xixku

2

Erreferentzia bat

Bgee ^ingelesa

28 apirila 2022

kidney tubule ^ingelesa

3

Erreferentzia bat

Bgee ^ingelesa

28 apirila 2022

Giltzurrun-glomerulu

4

Erreferentzia bat

Bgee ^ingelesa

28 apirila 2022

metanephric glomerulus ^ingelesa

5

Erreferentzia bat

Bgee ^ingelesa

28 apirila 2022

giltzurrun

6

Erreferentzia bat

Bgee ^ingelesa

28 apirila 2022

body of pancreas ^ingelesa

7

Erreferentzia bat

Bgee ^ingelesa

28 apirila 2022

giltzurrunaren muin

8

Erreferentzia bat

Bgee ^ingelesa

28 apirila 2022

esperma

9

Erreferentzia bat

Bgee ^ingelesa

28 apirila 2022

right adrenal gland ^ingelesa

10

Erreferentzia bat

Bgee ^ingelesa

28 apirila 2022

http://identifiers.org/ncbigene/5053

baliokidetasun zehatza

Erreferentzia bat

Identifiers.org ^ingelesa

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifikatzaileak

RNAren identifikatzailea

NM_000277

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Encyclopædia Britannica Online-ren identifikatzailea

science/phenylalanine-hydroxylase

nola izendatua

phenylalanine hydroxylase

0 erreferentzia

Erreferentzia bat

ensembl Release 106 ^ingelesa

Ensembl-ren transkripzio-identifikatzailea

ENST00000548928

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000547319

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000550405

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000549111

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000553106

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000635500

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000546708

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000549247

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000551114

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000552251

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000551337

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000635477

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000635528

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000546844

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000548677

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000307000

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000550978

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000551988

Erreferentzia bat

ensembl Release 106 ^ingelesa

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

HGNC ID ^ingelesa

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

OMIM ID ^ingelesa

612349

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Online Mendelian Inheritance in Man

19 abuztua 2019

UMLS CUI ^ingelesa

C1418251

Erreferentzia bat

based on heuristic ^ingelesa

inferred by common HGNC mappings on source and on Wikidata ^ingelesa

UMLS 2023 ^ingelesa