Disease Annotation

Gene Info

  • Species:Human (Homo sapiens)
  • GeneID:5663
  • Symbol:PSEN1
  • Description:presenilin 1

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Disease_Term Source Rank Other Values
Alzheimer disease, type 3, 607822 (3) OMIM high
  • Genome region :14q24.2
  • OMIM_ID :104311OMIM gene ID
  • OMIM_ID :607822OMIM phenotype ID
Dementia, frontotemporal, 600274 (3) OMIM high
  • Genome region :14q24.2
  • OMIM_ID :104311OMIM gene ID
  • OMIM_ID :600274OMIM phenotype ID
Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 (3) OMIM high
  • Genome region :14q24.2
  • OMIM_ID :104311OMIM gene ID
  • OMIM_ID :607822OMIM phenotype ID
Pick disease, 172700 (3) OMIM high
  • Genome region :14q24.2
  • Genome region :17q21.31
  • OMIM_ID :104311OMIM gene ID
  • OMIM_ID :157140OMIM gene ID
  • OMIM_ID :172700OMIM phenotype ID
Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 (3) OMIM high
  • Genome region :14q24.2
  • OMIM_ID :104311OMIM gene ID
  • OMIM_ID :607822OMIM phenotype ID
Acne inversa, familial, 3, 613737 (3) OMIM high
  • Genome region :14q24.2
  • OMIM_ID :104311OMIM gene ID
  • OMIM_ID :613737OMIM phenotype ID
Cardiomyopathy, dilated, 1U, 613694 (3) OMIM high
  • Genome region :14q24.2
  • OMIM_ID :104311OMIM gene ID
  • OMIM_ID :613694OMIM phenotype ID