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