Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 5728
  • Symbol: PTEN
  • Description: phosphatase and tensin homolog

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Disease_Term Source Rank Other Values
Lhermitte-Duclos syndrome, 158350 (3) OMIM high
  • Genome region : 10q23.31
  • OMIM_ID : 158350 OMIM phenotype ID
  • OMIM_ID : 601728 OMIM gene ID
Bannayan-Riley-Ruvalcaba syndrome, 153480 (3) OMIM high
  • Genome region : 10q23.31
  • OMIM_ID : 153480 OMIM phenotype ID
  • OMIM_ID : 601728 OMIM gene ID
VATER association with macrocephaly and ventriculomegaly, 276950 (3) OMIM high
  • Genome region : 10q23.31
  • OMIM_ID : 276950 OMIM phenotype ID
  • OMIM_ID : 601728 OMIM gene ID
Macrocephaly/autism syndrome, 605309 (3) OMIM high
  • Genome region : 10q23.31
  • OMIM_ID : 601728 OMIM gene ID
  • OMIM_ID : 605309 OMIM phenotype ID
{Glioma susceptibility 2}, 613028 (3) OMIM high
  • Genome region : 10q23.31
  • OMIM_ID : 601728 OMIM gene ID
  • OMIM_ID : 613028 OMIM phenotype ID
PTEN hamartoma tumor syndrome (3) OMIM high
  • Genome region : 10q23.31
  • OMIM_ID : 601728 OMIM gene ID
Cowden syndrome 1, 158350 (3) OMIM high
  • Genome region : 10q23.31
  • OMIM_ID : 158350 OMIM phenotype ID
  • OMIM_ID : 601728 OMIM gene ID
Malignant melanoma, somatic, 155600 (3) OMIM high
  • Genome region : 10q23.31
  • OMIM_ID : 155600 OMIM phenotype ID
  • OMIM_ID : 601728 OMIM gene ID
{Meningioma}, 607174 (3) OMIM high
  • Genome region : 10q23.31
  • OMIM_ID : 601728 OMIM gene ID
  • OMIM_ID : 607174 OMIM phenotype ID
Squamous cell carcinoma, head and neck, somatic, 275355 (3) OMIM high
  • Genome region : 10q23.31
  • Genome region : 13q34
  • OMIM_ID : 275355 OMIM phenotype ID
  • OMIM_ID : 601566 OMIM gene ID
  • OMIM_ID : 601728 OMIM gene ID
Endometrial carcinoma, somatic, 608089 (3) OMIM high
  • Genome region : 10q23.31
  • Genome region : 16q22.1
  • Genome region : 5q14.1
  • OMIM_ID : 192090 OMIM gene ID
  • OMIM_ID : 600887 OMIM gene ID
  • OMIM_ID : 601728 OMIM gene ID
  • OMIM_ID : 608089 OMIM phenotype ID
{Prostate cancer, somatic}, 176807 (3) OMIM high
  • Genome region : 10q23.31
  • OMIM_ID : 176807 OMIM phenotype ID
  • OMIM_ID : 601728 OMIM gene ID
Periodontitis (Mean PAL) GWAS high
Mercury levels GWAS high
Type 2 diabetes GWAS high