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Ciliary part

Ciliary part

  • ABCA4: ATP-binding cassette, sub-family A (ABC1), member 4
  • ARFGEF2: ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
  • ATG16L1: autophagy related 16-like 1 (S. cerevisiae)
  • CASK: calcium/calmodulin-dependent serine protein kinase (MAGUK family)
  • CEP290: centrosomal protein 290kDa
  • DNAH5: dynein, axonemal, heavy chain 5
  • EFHC1: EF-hand domain (C-terminal) containing 1
  • EVC: Ellis van Creveld syndrome
  • GNAT1: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
  • GNAT2: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
  • GUCY2D: guanylate cyclase 2D, membrane (retina-specific)
  • IFT140: intraflagellar transport 140 homolog (Chlamydomonas)
  • OFD1: oral-facial-digital syndrome 1
  • OPN1LW: opsin 1 (cone pigments), long-wave-sensitive
  • OPN1MW: opsin 1 (cone pigments), medium-wave-sensitive
  • OPN1SW: opsin 1 (cone pigments), short-wave-sensitive
  • PDE6B: phosphodiesterase 6B, cGMP-specific, rod, beta
  • PKD2: polycystic kidney disease 2 (autosomal dominant)
  • PKHD1: polycystic kidney and hepatic disease 1 (autosomal recessive)
  • PSEN1: presenilin 1
  • PSEN2: presenilin 2
  • RHO: rhodopsin
  • RP2: retinitis pigmentosa 2 (X-linked recessive)
  • RPGR: retinitis pigmentosa GTPase regulator
  • SCNN1A: sodium channel, non-voltage-gated 1 alpha subunit
  • SHANK3: SH3 and multiple ankyrin repeat domains 3
  • WDR35: WD repeat domain 35

Source: Gene Ontology ConsortiumThis link leads to a site outside Genetics Home Reference..

 
Published: July 28, 2014