KALRN &#160; ingelesa (Q18033696)

ensembl Release 106 ^ingelesa

proteinak kodetzen dituen genea

honen azpiklasea

Erreferentzia bat

Ensembl Release 87 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

kodetzen du

Kalirin RhoGEF kinase ^ingelesa

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UniProt ^ingelesa

6 uztaila 2017

UniProt protein ID ^ingelesa

O60229

gene substitution association with ^ingelesa

eskizofrenia

IMP ^ingelesa

disease susceptibility ^ingelesa

4 erreferentzia

KALRN: a central regulator of synaptic function and synaptopathies ^ingelesa

review article ^ingelesa

Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations ^ingelesa

case report ^ingelesa

A Schizophrenia-Linked KALRN Coding Variant Alters Neuron Morphology, Protein Function, and Transcript Stability. ^ingelesa

A sequence variant in human KALRN impairs protein function and coincides with reduced cortical thickness. ^ingelesa

genetic association ^ingelesa

eskizofrenia

IMP ^ingelesa

disease susceptibility ^ingelesa

3 erreferentzia

KALRN: a central regulator of synaptic function and synaptopathies ^ingelesa

review article ^ingelesa

A polygenic burden of rare disruptive mutations in schizophrenia ^ingelesa

Resequencing and association analysis of the KALRN and EPHB1 genes and their contribution to schizophrenia susceptibility ^ingelesa

autismoaren espektroko nahasmen

IMP ^ingelesa

disease susceptibility ^ingelesa

3 erreferentzia

KALRN: a central regulator of synaptic function and synaptopathies ^ingelesa

review article ^ingelesa

Both rare and common genetic variants contribute to autism in the Faroe Islands ^ingelesa

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism ^ingelesa

global developmental delay ^ingelesa

IMP ^ingelesa

disease susceptibility ^ingelesa

2 erreferentzia

KALRN: a central regulator of synaptic function and synaptopathies ^ingelesa

review article ^ingelesa

Prevalence and architecture of de novo mutations in developmental disorders ^ingelesa

istripu zerebrobaskular

IGC ^ingelesa

disease susceptibility ^ingelesa

2 erreferentzia

KALRN: a central regulator of synaptic function and synaptopathies ^ingelesa

review article ^ingelesa

arteria koronarioetako gaixotasun

Genetic Variant of Kalirin Gene Is Associated with Ischemic Stroke in a Chinese Han Population. ^ingelesa

IGC ^ingelesa

disease susceptibility ^ingelesa

2 erreferentzia

KALRN: a central regulator of synaptic function and synaptopathies ^ingelesa

review article ^ingelesa

Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease ^ingelesa

adimen-urritasun

disease susceptibility ^ingelesa

2 erreferentzia

KALRN: a central regulator of synaptic function and synaptopathies ^ingelesa

review article ^ingelesa

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree ^ingelesa

case report ^ingelesa

human chromosome 3 ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

strand orientation ^ingelesa

forward strand ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

genomic start ^ingelesa

123798870

human chromosome 3 ^ingelesa

genomic assembly ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

124033369

human chromosome 3 ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

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ensembl Release 106 ^ingelesa

genomic end ^ingelesa

124726325

human chromosome 3 ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

124445172

human chromosome 3 ^ingelesa

genomic assembly ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

cytogenetic location ^ingelesa

3q21.1-q21.2

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

decreased expression in ^ingelesa

Alzheimer

IEP ^ingelesa

disease susceptibility ^ingelesa

3 erreferentzia

KALRN: a central regulator of synaptic function and synaptopathies ^ingelesa

review article ^ingelesa

β-Amyloid 42/40 ratio and kalirin expression in Alzheimer disease with psychosis ^ingelesa

Kalirin is under-expressed in Alzheimer's disease hippocampus. ^ingelesa

istripu zerebrobaskular

IGC ^ingelesa

disease susceptibility ^ingelesa

2 erreferentzia

KALRN: a central regulator of synaptic function and synaptopathies ^ingelesa

review article ^ingelesa

Genetic Variation of the Kalirin Gene is Associated with ICAS in the Chinese Population ^ingelesa

altered regulation leads to ^ingelesa

adikzio

IGC ^ingelesa

disease susceptibility ^ingelesa

2 erreferentzia

KALRN: a central regulator of synaptic function and synaptopathies ^ingelesa

review article ^ingelesa

Mouse and Human Genetic Analyses Associate Kalirin with Ventral Striatal Activation during Impulsivity and with Alcohol Misuse ^ingelesa

HomoloGene ID ^ingelesa

57160

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

arteria koronarioetako gaixotasun

increased expression in ^ingelesa

IGC ^ingelesa

disease susceptibility ^ingelesa

2 erreferentzia

KALRN: a central regulator of synaptic function and synaptopathies ^ingelesa

review article ^ingelesa

Association between Serum Kalirin Levels and the KALRN gene rs9289231 Polymorphism in Early-Onset Coronary Artery Disease ^ingelesa

Kalrn ^ingelesa

2 erreferentzia

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

57160

Orthologous MAtrix ^ingelesa

https://omabrowser.org/oma/vps/O60229/

Kalrn ^ingelesa

taxon honetan dago

Arratoi arrunt

2 erreferentzia

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

57160

Orthologous MAtrix ^ingelesa

https://omabrowser.org/oma/vps/O60229/

expressed in ^ingelesa

secondary oocyte ^ingelesa

1

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

frontal pole ^ingelesa

2

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

Brodmann area 10 ^ingelesa

3

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Bgee ^ingelesa

7 ekaina 2024

ascending aorta ^ingelesa

4

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Bgee ^ingelesa

7 ekaina 2024

Descending thoracic aorta ^ingelesa

5

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Bgee ^ingelesa

7 ekaina 2024

right coronary artery ^ingelesa

6

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

dorsolateral prefrontal cortex ^ingelesa

7

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Bgee ^ingelesa

7 ekaina 2024

primary visual cortex ^ingelesa

8

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Bgee ^ingelesa

7 ekaina 2024

right frontal lobe ^ingelesa

9

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Bgee ^ingelesa

7 ekaina 2024

sural nerve ^ingelesa

10

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Bgee ^ingelesa

7 ekaina 2024

http://identifiers.org/ncbigene/8997

baliokidetasun zehatza

Erreferentzia bat

Identifiers.org ^ingelesa

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

Identifikatzaileak

RNAren identifikatzailea

NM_001024660

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

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

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

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

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

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

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

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

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

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

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

NCBI Gene ^ingelesa

10 apirila 2022

Erreferentzia bat

NCBI Gene ^ingelesa

10 apirila 2022

Erreferentzia bat

NCBI Gene ^ingelesa

10 apirila 2022

Erreferentzia bat

NCBI Gene ^ingelesa

10 apirila 2022

Erreferentzia bat

NCBI Gene ^ingelesa

10 apirila 2022

Erreferentzia bat

NCBI Gene ^ingelesa

10 apirila 2022

Erreferentzia bat

NCBI Gene ^ingelesa

10 apirila 2022

Erreferentzia bat

NCBI Gene ^ingelesa

10 apirila 2022

Erreferentzia bat

NCBI Gene ^ingelesa

10 apirila 2022

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

ensembl Release 106 ^ingelesa

Ensembl-ren transkripzio-identifikatzailea

ENST00000522553

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ensembl Release 106 ^ingelesa

ENST00000240874

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ensembl Release 106 ^ingelesa

ENST00000291478

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ensembl Release 106 ^ingelesa

ENST00000354186

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ensembl Release 106 ^ingelesa

ENST00000360013

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ensembl Release 106 ^ingelesa

ENST00000393496

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000393501

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ensembl Release 106 ^ingelesa

ENST00000439170

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ensembl Release 106 ^ingelesa

ENST00000448253

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000454902

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000459915

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ensembl Release 106 ^ingelesa

ENST00000460856

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000462213

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000471431

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ensembl Release 106 ^ingelesa

ENST00000473056

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ensembl Release 106 ^ingelesa

ENST00000477496

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ensembl Release 106 ^ingelesa

ENST00000483658

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ensembl Release 106 ^ingelesa

ENST00000484224

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000484542

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000488825

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000494648

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000498499

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000682890

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000683512

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000682695

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000683827

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000684374

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000682625

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000682506

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000682540

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000682575

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000684382

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000683592

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000683571

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000683280

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000684276

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000684480

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000682861

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000683356

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000684410

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000683428

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000683124

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000684441

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000682277

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000682363

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000683146

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000684186

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000683922

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000682290

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000682674

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000684360

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000682636

Erreferentzia bat

ensembl Release 106 ^ingelesa

Freebase-ren identifikatzailea

0 erreferentzia

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

HGNC ID ^ingelesa

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

OMIM ID ^ingelesa

604605

2 erreferentzia

iturria

Errusierazko Wikipedia

Online Mendelian Inheritance in Man

19 abuztua 2019

UMLS CUI ^ingelesa

C1537432

Erreferentzia bat

based on heuristic ^ingelesa

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

UMLS 2023 ^ingelesa