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C19orf44

Chr 19p13.11

chromosome 19 open reading frame 44

Aliases:
FLJ21742, FCAP71
MANE:
ENST00000221671.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Retinal disorders

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • pyknoachondrogenesis

    0.06
  • X-linked osteoporosis with fractures

    0.06
  • dentin dysplasia

    0.05
  • osteoporosis

    0.05
  • melorheostosis

    0.05
  • Kallmann syndrome

    0.05
  • osteomesopyknosis

    0.05
  • bone Paget disease

    0.05
  • dentin dysplasia-sclerotic bones syndrome

    0.05
  • Dentin dysplasia - sclerotic bones

    0.05

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

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.