(Q18033696)

4 references

KALRN: a central regulator of synaptic function and synaptopathies

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

case report

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

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

genetic association

schizophrenia

3 references

KALRN: a central regulator of synaptic function and synaptopathies

A polygenic burden of rare disruptive mutations in schizophrenia

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

autism spectrum disorder

3 references

KALRN: a central regulator of synaptic function and synaptopathies

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

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

global developmental delay

2 references

KALRN: a central regulator of synaptic function and synaptopathies

Prevalence and architecture of de novo mutations in developmental disorders

stroke

2 references

KALRN: a central regulator of synaptic function and synaptopathies

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

coronary artery disease

2 references

KALRN: a central regulator of synaptic function and synaptopathies

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

intellectual disability

2 references

KALRN: a central regulator of synaptic function and synaptopathies

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

1 reference

1 reference

123798870

1 reference

124033369

1 reference

124726325

1 reference

124445172

1 reference

3q21.1-q21.2

1 reference

15 May 2022

decreased expression in

Alzheimer's disease

IEP

3 references

KALRN: a central regulator of synaptic function and synaptopathies

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

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

stroke

2 references

KALRN: a central regulator of synaptic function and synaptopathies

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

altered regulation leads to

addiction

2 references

KALRN: a central regulator of synaptic function and synaptopathies

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

HomoloGene ID

57160

1 reference

15 May 2022

increased expression in

coronary artery disease

2 references

KALRN: a central regulator of synaptic function and synaptopathies

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

2 references

57160

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

2 references

57160

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

1 reference

7 June 2024

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Descending thoracic aorta

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7 June 2024

right coronary artery

1 reference

7 June 2024

dorsolateral prefrontal cortex

1 reference

7 June 2024

primary visual cortex

1 reference

7 June 2024

1 reference

7 June 2024

1 reference

7 June 2024

http://identifiers.org/ncbigene/8997

exact match

1 reference

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

Identifiers.org

reference URL

Identifiers

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imported from Wikimedia project

Russian Wikipedia

Online Mendelian Inheritance in Man

19 August 2019

1 reference

inferred by common HGNC mappings on source and on Wikidata