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KIAA0319L

Chr 1p34.3

KIAA0319 like

Aliases:
KIAA1837, AAVR
MANE:
ENST00000325722.8
OMIM: 613535 ↗NCBI: 79932 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    Unknown

Disease associations (Open Targets)

  • systemic lupus erythematosus

    0.20

  • systemic sclerosis

    0.20

  • spermatogenic failure

    0.09

  • non-syndromic male infertility due to sperm motility disorder

    0.08

  • partial chromosome Y deletion

    0.07

  • male infertility with azoospermia or oligozoospermia due to single gene mutation

    0.07

  • spermatogenic failure 39

    0.07

  • spermatogenic failure 65

    0.07

  • spermatogenic failure 54

    0.07

  • spermatogenic failure 89

    0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Dyslexia-associated protein KIAA0319-like protein

Possible role in axon guidance through interaction with RTN4R

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.