Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 59341
  • Symbol: TRPV4
  • Description: transient receptor potential cation channel subfamily V member 4

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Disease_Term Source Rank Other Values
Scapuloperoneal spinal muscular atrophy, 181405 (3) OMIM high
  • Genome region : 12q24.11
  • OMIM_ID : 181405 OMIM phenotype ID
  • OMIM_ID : 605427 OMIM gene ID
Metatropic dysplasia, 156530 (3) OMIM high
  • Genome region : 12q24.11
  • OMIM_ID : 156530 OMIM phenotype ID
  • OMIM_ID : 605427 OMIM gene ID
SED, Maroteaux type, 184095 (3) OMIM high
  • Genome region : 12q24.11
  • OMIM_ID : 184095 OMIM phenotype ID
  • OMIM_ID : 605427 OMIM gene ID
Brachyolmia type 3, 113500 (3) OMIM high
  • Genome region : 12q24.11
  • OMIM_ID : 113500 OMIM phenotype ID
  • OMIM_ID : 605427 OMIM gene ID
[Sodium serum level QTL 1], 613508 (3) OMIM high
  • Genome region : 12q24.11
  • OMIM_ID : 605427 OMIM gene ID
  • OMIM_ID : 613508 OMIM phenotype ID
Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3) OMIM high
  • Genome region : 12q24.11
  • OMIM_ID : 600175 OMIM phenotype ID
  • OMIM_ID : 605427 OMIM gene ID
Digital arthropathy-brachydactyly, familial, 606835 (3) OMIM high
  • Genome region : 12q24.11
  • OMIM_ID : 605427 OMIM gene ID
  • OMIM_ID : 606835 OMIM phenotype ID
Parastremmatic dwarfism, 168400 (3) OMIM high
  • Genome region : 12q24.11
  • OMIM_ID : 168400 OMIM phenotype ID
  • OMIM_ID : 605427 OMIM gene ID
Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3) OMIM high
  • Genome region : 12q24.11
  • OMIM_ID : 184252 OMIM phenotype ID
  • OMIM_ID : 605427 OMIM gene ID
Hereditary motor and sensory neuropathy, type IIc, 606071 (3) OMIM high
  • Genome region : 12q24.11
  • OMIM_ID : 605427 OMIM gene ID
  • OMIM_ID : 606071 OMIM phenotype ID