PhenCode: Links

LSDBs

• AD&FTDMD Alzheimer Disease & Frontotemporal Dementia Mutation Database
• ALPL ALPL gene mutations database
• ARdb Androgen Receptor Gene Mutations Database
• BGMUT Blood Group Antigen Gene Mutation Database
• CA2base Osteopetrosis with renal tubular acidosis
• CASRdb Calcium Sensing Receptor Database
  
• CBS CBS Mutation Database
• CFMDB Cystic Fibrosis Mutation Database
  
• CLCN7base Autosomal dominant osteopetrosis, type 2
• dbPEX PEX Gene Database
  
• dbRIP A database of retrotransposon insertion polymorphisms in humans
  
• F12base Hereditary angioedema type III
• FHCDB - FHC Mutation Database (no longer online)
  
• HbVar Human Hemoglobin Variants and Thalassemias database
  
• HIFD Human Intermediate Filament Database
  
• IARC TP53 IARC TP53 Mutation Database
• IDbases Databases for immunodeficiency-causing mutations
  
• IPNMDB Inherited Peripheral Neuropathies Mutation Database
  
• ISTH SSC VWF ISTH SSC von Willebrand Factor Database
  
• KinMutBase Kinase mutation database
• LMDp Leiden Muscular Dystrophy pages
• LQTSdb - Long QT Syndrome Database (no longer online)
  
• MMR Mismatch Repair Genes Variant Database
  
• OSTM1base Autosomal recessive osteopetrosis
• PAHdb Phenylalanine Hydroxylase Locus Knowledgebase
  
• RettBASE IRSA MECP2 Variation Database
  
• RISN Retina International Scientific Newsletter Mutation Database
  
• RPGR RPGR Database
• X-ALD X-linked Adrenoleukodystrophy Database
  

Collaborators

• Human Genome Variation Society (HGVS)
• NCBI
• Human Variome Project
• UCSC Genome Browser
• Microattribution

Related sites

• Variant nomenclature
• Mutalyzer - sequence variant nomenclature check
• LOVD database system
• Bx Browser - partial mirror of UCSC Genome Browser with Locus Variants(PhenCode) track