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GenoLensGenoLens

NID1

Chr 1q42.3

nidogen 1

Aliases:
entactin
MANE:
ENST00000264187.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodegenerative disease

    0.42
  • isolated Dandy-Walker malformation without hydrocephalus

    0.37
  • placental retention

    0.28
  • Peyronie disease

    0.26
  • Hemiparesis

    0.26
  • Hydrocephalus

    0.26
  • focal epilepsy

    0.26
  • autoimmune disorder of central nervous system

    0.23
  • arthritic joint disease

    0.22
  • cerebellar dysfunction with variable cognitive and behavioral abnormalities

    0.12

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

Protein function (UniProt)

Nidogen-1

Sulfated glycoprotein widely distributed in basement membranes and tightly associated with laminin. Also binds to collagen IV and perlecan. It probably has a role in cell-extracellular matrix interactions

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.