Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 5781
  • Symbol: PTPN11
  • Description: protein tyrosine phosphatase non-receptor type 11

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Disease_Term Source Rank Other Values
LEOPARD syndrome 1, 151100 (3) OMIM high
  • Genome region : 12q24.13
  • OMIM_ID : 151100 OMIM phenotype ID
  • OMIM_ID : 176876 OMIM gene ID
Leukemia, juvenile myelomonocytic, somatic, 607785 (3) OMIM high
  • Genome region : 12q24.13
  • Genome region : 5q31.3
  • OMIM_ID : 176876 OMIM gene ID
  • OMIM_ID : 605370 OMIM gene ID
  • OMIM_ID : 607785 OMIM phenotype ID
Metachondromatosis, 156250 (3) OMIM high
  • Genome region : 12q24.13
  • OMIM_ID : 156250 OMIM phenotype ID
  • OMIM_ID : 176876 OMIM gene ID
Noonan syndrome 1, 163950 (3) OMIM high
  • Genome region : 12q24.13
  • OMIM_ID : 163950 OMIM phenotype ID
  • OMIM_ID : 176876 OMIM gene ID
Platelet count GWAS high
Diastolic blood pressure GWAS high
Tetralogy of Fallot GWAS high
Retinal vascular caliber GWAS high
Hematological parameters GWAS high
Type 1 diabetes GWAS high
Rheumatoid arthritis GWAS high
Hypothyroidism GWAS high
Urate levels GWAS high
Blood pressure GWAS high
Systolic blood pressure GWAS high