Rare disease: Cone rod dystrophy (Orphanet code 1872)
Associated genes:
Name: retinitis pigmentosa GTPase regulator
Symbol: RPGR
Synonyms: lang: en
text: CORDX1
GeneType: Name: gene with protein product
Name: peripherin 2
Symbol: PRPH2
Synonyms: lang: en
text: CACD2
lang: en
text: TSPAN22
lang: en
text: choroidal dystrophy, central areolar 2
lang: en
text: rd2
lang: en
text: retinal peripherin
lang: en
text: tetraspanin-22
GeneType: Name: gene with protein product
Name: cilia and flagella associated protein 410
Symbol: CFAP410
Synonyms: lang: en
text: A2
lang: en
text: LRRC76
lang: en
text: YF5
lang: en
text: leucine rich repeat containing 76
lang: en
text: nuclear encoded mitochondrial protein
GeneType: Name: gene with protein product
Name: PITPNM family member 3
Symbol: PITPNM3
Synonyms: lang: en
text: ACKR6
lang: en
text: NIR1
lang: en
text: RDGBA3
lang: en
text: atypical chemokine receptor 6
GeneType: Name: gene with protein product
Name: opsin 1, medium wave sensitive
Symbol: OPN1MW
Synonyms: lang: en
text: COD5
lang: en
text: OPN1MW1
lang: en
text: cone dystrophy 5 (X-linked)
GeneType: Name: gene with protein product
Name: cone-rod homeobox
Symbol: CRX
Synonyms: lang: en
text: CRD
lang: en
text: LCA7
lang: en
text: OTX3
lang: en
text: orthodenticle homeobox 3
GeneType: Name: gene with protein product
Name: nicotinamide nucleotide adenylyltransferase 1
Symbol: NMNAT1
Synonyms: lang: en
text: NMNAT
lang: en
text: PNAT1
lang: en
text: nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1
GeneType: Name: gene with protein product
Name: cilia and flagella associated protein 418
Symbol: CFAP418
Synonyms: lang: en
text: BBS21
lang: en
text: Bardet-Biedl syndrome 21
lang: en
text: CORD16
lang: en
text: FAP418
lang: en
text: FLJ30600
lang: en
text: MOT25
lang: en
text: MOT25.
lang: en
text: RP64
lang: en
text: SMALLTALK
lang: en
text: cone-rod dystrophy 16
GeneType: Name: gene with protein product
Name: cadherin related family member 1
Symbol: CDHR1
Synonyms: lang: en
text: CORD15
lang: en
text: KIAA1775
lang: en
text: RP65
GeneType: Name: gene with protein product
Name: ATP binding cassette subfamily A member 4
Symbol: ABCA4
Synonyms: lang: en
text: ARMD2
lang: en
text: CORD3
lang: en
text: FFM
lang: en
text: Stargardt disease
GeneType: Name: gene with protein product
Name: regulating synaptic membrane exocytosis 1
Symbol: RIMS1
Synonyms: lang: en
text: KIAA0340
lang: en
text: RIM
lang: en
text: RIM1
lang: en
text: Rab3-interacting molecule
GeneType: Name: gene with protein product
Name: RPGR interacting protein 1
Symbol: RPGRIP1
Synonyms: lang: en
text: CORD13
lang: en
text: LCA6
lang: en
text: RGI1
GeneType: Name: gene with protein product
Name: calcium voltage-gated channel subunit alpha1 F
Symbol: CACNA1F
Synonyms: lang: en
text: CORDX3
lang: en
text: CSNB2A
lang: en
text: CSNBX2
lang: en
text: Cav1.4
lang: en
text: JM8
lang: en
text: JMC8
lang: en
text: OA2
GeneType: Name: gene with protein product
Name: cyclic nucleotide gated channel subunit alpha 3
Symbol: CNGA3
Synonyms: lang: en
text: CCNC1
lang: en
text: CCNCa
lang: en
text: CNG3
GeneType: Name: gene with protein product
Name: aryl hydrocarbon receptor interacting protein like 1
Symbol: AIPL1
GeneType: Name: gene with protein product
Name: guanylate cyclase activator 1A
Symbol: GUCA1A
Synonyms: lang: en
text: COD3
lang: en
text: CORD14
lang: en
text: GCAP
lang: en
text: GCAP-1
lang: en
text: GCAP-I
lang: en
text: GCAP1
lang: en
text: cone dystrophy 3
lang: en
text: dJ139D8.6
GeneType: Name: gene with protein product
Name: guanylate cyclase 2D, retinal
Symbol: GUCY2D
Synonyms: lang: en
text: CYGD
lang: en
text: LCA1
lang: en
text: Leber congenital amaurosis 1
lang: en
text: RETGC-1
lang: en
text: ROS-GC
lang: en
text: ROS-GC1
lang: en
text: retGC
lang: en
text: retinal guanylate cyclase 1
lang: en
text: rod outer segment membrane guanylate cyclase
GeneType: Name: gene with protein product
Name: opsin 1, long wave sensitive
Symbol: OPN1LW
Synonyms: lang: en
text: COD5
lang: en
text: cone dystrophy 5 (X-linked)
GeneType: Name: gene with protein product
Name: retina and anterior neural fold homeobox 2
Symbol: RAX2
Synonyms: lang: en
text: ARMD6
lang: en
text: CORD11
lang: en
text: MGC15631
GeneType: Name: gene with protein product
Name: semaphorin 4A
Symbol: SEMA4A
Synonyms: lang: en
text: CORD10
lang: en
text: FLJ12287
lang: en
text: SemB
GeneType: Name: gene with protein product
Name: prominin 1
Symbol: PROM1
Synonyms: lang: en
text: AC133
lang: en
text: AC133 antigen
lang: en
text: CD133
lang: en
text: CORD12
lang: en
text: RP41
lang: en
text: Retinitis pigmentosa 41, Cone-rod dystrophy 12
GeneType: Name: gene with protein product
Name: calcium voltage-gated channel auxiliary subunit alpha2delta 4
Symbol: CACNA2D4
Synonyms: lang: en
text: alpha2delta-4
GeneType: Name: gene with protein product
Name: ADAM metallopeptidase domain 9
Symbol: ADAM9
Synonyms: lang: en
text: KIAA0021
lang: en
text: MCMP
lang: en
text: MDC9
lang: en
text: Mltng
lang: en
text: meltrin gamma
GeneType: Name: gene with protein product
Name: unc-119 lipid binding chaperone
Symbol: UNC119
Synonyms: lang: en
text: HRG4
lang: en
text: POC7
lang: en
text: POC7 centriolar protein homolog A (Chlamydomonas)
lang: en
text: POC7A
GeneType: Name: gene with protein product
Name: RAB28, member RAS oncogene family
Symbol: RAB28
GeneType: Name: gene with protein product
Name: POC1 centriolar protein B
Symbol: POC1B
Synonyms: lang: en
text: FLJ14923
lang: en
text: TUWD12
GeneType: Name: gene with protein product
Name: DNA damage regulated autophagy modulator 2
Symbol: DRAM2
Synonyms: lang: en
text: MGC54289
lang: en
text: PRO180
lang: en
text: RP5-1180E21.1
lang: en
text: WWFQ154
GeneType: Name: gene with protein product
Name: tubulin tyrosine ligase like 5
Symbol: TTLL5
Synonyms: lang: en
text: SRC1 and TIF2-associated modulatory protein
lang: en
text: STAMP
lang: en
text: tubulin polyglutamylase TTLL5
GeneType: Name: gene with protein product
Name: TLC domain containing 3B
Symbol: TLCD3B
Synonyms: lang: en
text: DKFZP434I2117
GeneType: Name: gene with protein product
Name: activating transcription factor 6
Symbol: ATF6
Synonyms: lang: en
text: ATF6A
lang: en
text: ATP6alpha
lang: en
text: activating transcription factor 6 alpha
GeneType: Name: gene with protein product