Disease Annotation

Gene Info

  • Species:Human (Homo sapiens)
  • GeneID:6899
  • Symbol:TBX1
  • Description:T-box transcription factor 1

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Disease_Term Source Rank Other Values
Conotruncal anomaly face syndrome, 217095 (3) OMIM high
  • Genome region :22q11.21
  • OMIM_ID :217095OMIM phenotype ID
  • OMIM_ID :602054OMIM gene ID
DiGeorge syndrome, 188400 (3) OMIM high
  • Genome region :22q11.21
  • OMIM_ID :188400OMIM phenotype ID
  • OMIM_ID :602054OMIM gene ID
Tetralogy of Fallot, 187500 (3) OMIM high
  • Genome region :18q11.2
  • Genome region :19p13.11
  • Genome region :20p12.2
  • Genome region :22q11.21
  • Genome region :5q35.1
  • Genome region :8p23.1
  • Genome region :8q23.1
  • OMIM_ID :187500OMIM phenotype ID
  • OMIM_ID :600576OMIM gene ID
  • OMIM_ID :600584OMIM gene ID
  • OMIM_ID :601656OMIM gene ID
  • OMIM_ID :601920OMIM gene ID
  • OMIM_ID :602054OMIM gene ID
  • OMIM_ID :602880OMIM gene ID
  • OMIM_ID :603693OMIM gene ID
Velocardiofacial syndrome, 192430 (3) OMIM high
  • Genome region :22q11.21
  • OMIM_ID :192430OMIM phenotype ID
  • OMIM_ID :602054OMIM gene ID
Acute kidney injury in critical illness GWAS high
Prostate cancer GWAS high
Schizophrenia GWAS high
DNA methylation (parent-of-origin) GWAS high