Disease Annotation

Gene Info

  • Species:Human (Homo sapiens)
  • GeneID:6469
  • Symbol:SHH
  • Description:sonic hedgehog signaling molecule

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Disease_Term Source Rank Other Values
Microphthalmia with coloboma 5, 611638 (3) OMIM high
  • Genome region :7q36.3
  • OMIM_ID :600725OMIM gene ID
  • OMIM_ID :611638OMIM phenotype ID
Schizencephaly, 269160 (3) OMIM high
  • Genome region :10q26.11
  • Genome region :2p21
  • Genome region :7q36.3
  • OMIM_ID :269160OMIM phenotype ID
  • OMIM_ID :600035OMIM gene ID
  • OMIM_ID :600725OMIM gene ID
  • OMIM_ID :603714OMIM gene ID
Holoprosencephaly 3, 142945 (3) OMIM high
  • Genome region :7q36.3
  • OMIM_ID :142945OMIM phenotype ID
  • OMIM_ID :600725OMIM gene ID
Single median maxillary central incisor, 147250 (3) OMIM high
  • Genome region :7q36.3
  • OMIM_ID :147250OMIM phenotype ID
  • OMIM_ID :600725OMIM gene ID
Platelet aggregation GWAS high
Corneal astigmatism GWAS high