MCID: CNR002
MIFTS: 56

Cone-Rod Dystrophy malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Cone-Rod Dystrophy

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Cone-Rod Dystrophy, Aliases & Descriptions:

Name: Cone-Rod Dystrophy 45 30 9 10 41 11 43
Cone-Rod Dystrophy 2 41 20 22 60
Cone-Rod Retinal Dystrophy-2 45 10
Cone-Rod Dystrophy 5 9 60
Progressive Cone-Rod Dystrophy 60
Cone-Rod Retinal Dystrophy 2 41
Retinal Cone-Rod Dystrophy 2 41
 
Cone-Rod Retinal Dystrophy 9
Retinitis Pigmentosa 2 60
Retinitis Pigmentosa 60
Rod-Cone Dystrophy 22
Cord2 41
Rcrd2 41
Crd2 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


External Ids:

OMIM45 120970
Disease Ontology9 DOID:0050572

Summaries for Cone-Rod Dystrophy

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OMIM:45 Cone-rod dystrophy (CORD) characteristically leads to early impairment of vision. An initial loss of color vision and... (120970) more...

MalaCards based summary: Cone-Rod Dystrophy, also known as cone-rod dystrophy 2, is related to retinitis and stargardt disease, and has symptoms including autosomal dominant inheritance, chorioretinal atrophy and cone-rod dystrophy. An important gene associated with Cone-Rod Dystrophy is CRX (cone-rod homeobox), and among its related pathways are Vitamin A and carotenoid metabolism and Retinol metabolism. The compounds Cyclic GMP and 11-cis-retinol have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and bone, and related mouse phenotypes are pigmentation and nervous system.

Disease Ontology:9 A retinal degeneration that is an inherited progressive disease that causes deterioration of the cone and rod photoreceptor cells and often results in blindness.

NIH Rare Diseases:41 Cone-rod dystrophies (crds) are a group of inherited eye disorders that affect both the cone and rod cells of the retina (photosenstitive receptor cells). in contrast to rod-cone dystrophies, individuals experience deterioration of the cone cells more severely than the rod cells. initial signs and symptoms typically include decreased visual acuity when looking straight ahead (central vision loss); loss of color perception; and an abnormal sensitivity to light (photophobia). these signs are usually followed by progressive loss of peripheral vision and night blindness. most cases occur due to mutations in any one of several genes, and crds can be inherited as autosomal recessive, autosomal dominant, x-linked or mitochondrial (maternally-inherited) traits. crds are usually non-syndromic, but they may also be part of several syndromes. currently, there is no therapy that stops progression of the disease or restores vision; management aims at slowing the process, treating complications and helping individuals cope with the social and psychological impact of blindness. last updated: 5/23/2011

Related Diseases for Cone-Rod Dystrophy

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Diseases related to Cone-Rod Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 84)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis31.9RP2, RHO
2stargardt disease31.3RHO, ABCA4
3leber congenital amaurosis30.8RDH12, RHO, RPE65, GUCY2D, TULP1, ABCA4
4retinal degeneration28.7BEST1, RP2, RPE65, ROM1, PDE6B, RHO
5spondylometaphyseal dysplasia with cone-rod dystrophy10.9
6cone-rod dystrophy 310.8
7cone-rod dystrophy, x-linked, 110.8
8jalili syndrome10.8
9retinitis pigmentosa10.8
10cone-rod dystrophy 910.7
11cone-rod dystrophy 610.7
12cone-rod dystrophy 1210.7
13cone-rod dystrophy 1610.7
14cone-rod dystrophy 510.7
15cone-rod dystrophy 1110.7
16cone-rod dystrophy 710.7
17cone-rod dystrophy 1510.7
18cone-rod dystrophy 1310.7
19newfoundland rod-cone dystrophy10.7
20amelogenesis imperfecta10.7
21cone-rod dystrophy 1010.6
22cone-rod dystrophy 1710.6
23cone-rod dystrophy 810.6
24cone-rod dystropy, x-linked, 310.6
25cone-rod dystrophy 110.6
26cone-rod dystrophy x-linked 210.6
27cone-rod dystrophy 1810.5
28cone-rod dystrophy 2010.5
29cone-rod dystrophy 1910.5
30cone dystrophy-310.5
31unc119-related cone-rod dystrophy10.5
32prph2-related cone-rod dystrophy10.5
33cone-rod dystrophy 410.5
34ataxia10.5
35macular degeneration, age-related, 110.4RHO
36thiamine-responsive megaloblastic anemia syndrome10.4
37alstrom syndrome10.4
38vitreoretinochoroidopathy10.4
39leber congenital amaurosis 410.4
40danon disease10.4
41megaloblastic anemia10.4
42myopia10.4
43achondroplasia10.4
44duane retraction syndrome10.4
45stargardt disease 110.3ROM1, ABCA4
46fundus albipunctatus10.3PRPH2, RHO
47best vitelliform macular dystrophy10.3BEST1
48spiradenoma10.3RHO, ABCA4
49partial central choroid dystrophy10.3RIMS1, PRPH2, UNC119, GUCY2D
50peripheral retinal degeneration10.3ROM1

Graphical network of the top 20 diseases related to Cone-Rod Dystrophy:



Diseases related to cone-rod dystrophy

Symptoms for Cone-Rod Dystrophy

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Symptoms by clinical synopsis from OMIM:

120970

Clinical features from OMIM:

120970

HPO human phenotypes related to Cone-Rod Dystrophy:

(show all 7)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 chorioretinal atrophy HP:0000533
3 cone-rod dystrophy HP:0000548
4 blindness HP:0000618
5 night blindness HP:0000662
6 abnormality of skin pigmentation HP:0001000
7 peripheral visual field loss HP:0007994

Drugs & Therapeutics for Cone-Rod Dystrophy

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Drug clinical trials:

Search ClinicalTrials for Cone-Rod Dystrophy

Search NIH Clinical Center for Cone-Rod Dystrophy

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Cone-Rod Dystrophy cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Cone-Rod Dystrophy:
Bone marrow-derived stem cells for retinal diseases
Embryonic/Adult Cultured Cells Related to Cone-Rod Dystrophy:
Bone marrow-derived mononuclear cells (family), PMIDs: 23049424, 21225138, 19347139, 23000646

Genetic Tests for Cone-Rod Dystrophy

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Genetic tests related to Cone-Rod Dystrophy:

id Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 220 22 CRX
2 Cone-Rod Dystrophy22

Anatomical Context for Cone-Rod Dystrophy

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MalaCards organs/tissues related to Cone-Rod Dystrophy:

31
Retina, Eye, Bone, Skin, Testes

Animal Models for Cone-Rod Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Cone-Rod Dystrophy:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9PDE6B, RPE65, BEST1, PRPH2, UNC119, TULP1
2MP:00036318.4GUCY2D, RDH12, RIMS1, RHO, ROM1, RPE65
3MP:00053918.2RDH12, ABCA4, TULP1, USH2A, GUCY2D, UNC119

Publications for Cone-Rod Dystrophy

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Articles related to Cone-Rod Dystrophy:

(show top 50)    (show all 173)
idTitleAuthorsYear
1
Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy. (25873014)
2015
2
Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy. (24387991)
2014
3
RNA interference gene therapy in dominant retinitis pigmentosa and cone-rod dystrophy mouse models caused by GCAP1 mutations. (24778606)
2014
4
Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy. (25052312)
2014
5
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. (23776498)
2013
6
The Prevalence of Macular Cysts in Patients with Clinical Cone-Rod Dystrophy Determined by Spectral-Domain Optical Coherence Tomography. (23758497)
2013
7
Macular Cysts in Clinical Cone-rod Dystrophy. (24001016)
2013
8
Early detection of central visual function decline in cone-rod dystrophy by the use of macular focal cone electroretinogram. (24008410)
2013
9
CRX variants in cone-rod dystrophy and mutation overview. (22960069)
2012
10
RPGRIP1 and cone-rod dystrophy in dogs. (22183349)
2012
11
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. (22264887)
2012
12
Multiple mechanisms contribute to leakiness of a frameshift mutation in canine cone-rod dystrophy. (23251588)
2012
13
Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene. (21464903)
2011
14
Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy. (21405999)
2011
15
An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9. (20806078)
2010
16
Spondylometaphyseal dysplasia with cone-rod dystrophy. (20141353)
2010
17
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. (19200527)
2009
18
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. (19409519)
2009
19
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal- recessive cone-rod dystrophy and amelogenesis imperfecta. (19200525)
2009
20
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. (18285826)
2008
21
Electroretinographic findings in the Standard Wire Haired Dachshund with inherited early onset cone-rod dystrophy. (17180612)
2007
22
High-resolution retinal imaging of cone-rod dystrophy. (16650474)
2006
23
Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy. (16896346)
2006
24
Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. (16806805)
2006
25
Novel triple missense mutations of GUCY2D gene in Japanese family with cone-rod dystrophy: possible use of genotyping microarray. (17200655)
2006
26
Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis. (16644365)
2006
27
Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15. (15734019)
2005
28
Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients. (15175914)
2004
29
Cloning of the canine ABCA4 gene and evaluation in canine cone-rod dystrophies and progressive retinal atrophies. (15064680)
2004
30
Spondylometaphyseal dysplasia with cone-rod dystrophy. (15326626)
2004
31
Novel 615delC mutation in the CRX gene in a Japanese family with cone-rod dystrophy. (15531334)
2004
32
Dominant cone and cone-rod dystrophies: functional analysis of mutations in retGC1 and GCAP1. (14750595)
2004
33
The R172W mutation in peripherin/rds causes a cone-rod dystrophy in transgenic mice. (15254014)
2004
34
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy. (12796258)
2003
35
Cone-rod dystrophy in thiamine-responsive megaloblastic anemia. (12691235)
2003
36
Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). (12659814)
2003
37
Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation. (12359607)
2002
38
Visual function in patients with cone-rod dystrophy (CRD) associated with mutations in the ABCA4(ABCR) gene. (11846518)
2001
39
Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. (11580893)
2001
40
Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies. (11565546)
2001
41
Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone-rod dystrophy. (10430891)
1999
42
A retGC-1 mutation in autosomal dominant cone-rod dystrophy. (9683616)
1998
43
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. (9618177)
1998
44
Autosomal dominant cone-rod dystrophy with negative electroretinogram. (7488580)
1995
45
Clinical subtypes of cone-rod dystrophy. (8512479)
1993
46
Progressive cone-rod dystrophy and high myopia in a Finnish family. (2763809)
1989
47
Blood-retinal barrier function in patients with cone or cone-rod dystrophy. (3954658)
1986
48
Vitreous fluorophotometry in patients with cone-rod dystrophy. (6733074)
1984
49
Autosomal dominant cone-rod dystrophy: a linkage study with 17 biochemical and serological markers. (6940444)
1981
50
Cone-rod dystrophy: a case report. (313711)
1978

Variations for Cone-Rod Dystrophy

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UniProtKB/Swiss-Prot genetic disease variations for Cone-Rod Dystrophy:

62
id Symbol AA change Variation ID SNP ID
1CRXp.Arg41TrpVAR_003750
2CRXp.Glu80AlaVAR_003751rs28939682
3CRXp.Val242MetVAR_007949

Clinvar genetic disease variations for Cone-Rod Dystrophy:

6 (show all 48)
id Gene Variation Type Significance SNP ID Assembly Location
1RP2NM_006915.2(RP2): c.16_18delTCC (p.Ser6del)deletionPathogenicrs137852284GRCh37Chr X, 46696551: 46696553
2RP2NM_006915.2(RP2): c.76C> T (p.Gln26Ter)single nucleotide variantPathogenicrs104894925GRCh37Chr X, 46696611: 46696611
3RP2NM_006915.2(RP2): c.353G> A (p.Arg118His)single nucleotide variantPathogenicrs28933687GRCh37Chr X, 46713161: 46713161
4RP2NM_006915.2(RP2): c.453C> G (p.Tyr151Ter)single nucleotide variantPathogenicrs104894926GRCh37Chr X, 46713261: 46713261
5RP2NM_006915.2(RP2): c.353G> T (p.Arg118Leu)single nucleotide variantPathogenicrs28933687GRCh37Chr X, 46713161: 46713161
6RP2NM_006915.2(RP2): c.358C> T (p.Arg120Ter)single nucleotide variantPathogenicrs104894927GRCh37Chr X, 46713166: 46713166
7RHONM_000539.3(RHO): c.403C> T (p.Arg135Trp)single nucleotide variantPathogenicrs104893775GRCh37Chr 3, 129249760: 129249760
8RHONM_000539.3(RHO): c.44A> G (p.Asn15Ser)single nucleotide variantPathogenicrs104893786GRCh37Chr 3, 129247620: 129247620
9PDE6BNM_000283.3(PDE6B): c.1669C> T (p.His557Tyr)single nucleotide variantPathogenicrs121918581GRCh37Chr 4, 655977: 655977
10RPE65NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp)single nucleotide variantPathogenicrs121917745GRCh37Chr 1, 68895518: 68895518
11PDE6BNM_000283.3(PDE6B): c.1604T> A (p.Ile535Asn)single nucleotide variantPathogenicGRCh37Chr 4, 654392: 654392
12PRPH2NM_000322.4(PRPH2): c.410G> A (p.Gly137Asp)single nucleotide variantPathogenicGRCh37Chr 6, 42689663: 42689663
13PRPH2NM_000322.4(PRPH2): c.499G> A (p.Gly167Ser)single nucleotide variantPathogenicGRCh37Chr 6, 42689574: 42689574
14ROM1NM_000327.3(ROM1): c.331dupG (p.Leu114Alafs)duplicationPathogenicGRCh38Chr 11, 62613612: 62613612
15RHONM_000539.3(RHO): c.520G> A (p.Gly174Ser)single nucleotide variantPathogenicGRCh37Chr 3, 129249877: 129249877
16RHONM_000539.3(RHO): c.562G> A (p.Gly188Arg)single nucleotide variantPathogenicGRCh37Chr 3, 129251125: 129251125
17CRXNM_000554.4(CRX): c.193G> C (p.Asp65His)single nucleotide variantPathogenicGRCh38Chr 19, 47836335: 47836335
18PRCDNM_001077620.2(PRCD): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicGRCh37Chr 17, 74536225: 74536225
19EYSNM_001142800.1(EYS): c.4957dupA (p.Ser1653Lysfs)duplicationPathogenicGRCh38Chr 6, 64590910: 64590910
20EYSNM_001142800.1(EYS): c.6557G> A (p.Gly2186Glu)single nucleotide variantPathogenicGRCh37Chr 6, 64791763: 64791763
21EYSNM_001142800.1(EYS): c.7793G> A (p.Gly2598Asp)single nucleotide variantPathogenicGRCh37Chr 6, 64488004: 64488004
22EYSNM_001142800.1(EYS): c.7919G> A (p.Trp2640Ter)single nucleotide variantPathogenicGRCh37Chr 6, 64472506: 64472506
23EYSNM_001142800.1(EYS): c.8805C> A (p.Tyr2935Ter)single nucleotide variantPathogenicGRCh37Chr 6, 64431122: 64431122
24EYSNM_001142800.1(EYS): c.9209T> C (p.Ile3070Thr)single nucleotide variantPathogenicGRCh37Chr 6, 64430718: 64430718
25BEST1NM_004183.3(BEST1): c.763C> T (p.Arg255Trp)single nucleotide variantPathogenicGRCh38Chr 11, 61958194: 61958194
26TOPORSNM_005802.4(TOPORS): c.2554_2557delGAGA (p.Glu852Glnfs)deletionPathogenicGRCh37Chr 9, 32541966: 32541969
27SNRNP200NM_014014.4(SNRNP200): c.2042G> A (p.Arg681His)single nucleotide variantPathogenicGRCh37Chr 2, 96958828: 96958828
28SNRNP200NM_014014.4(SNRNP200): c.2047G> T (p.Val683Leu)single nucleotide variantPathogenicGRCh37Chr 2, 96958823: 96958823
29IMPG2NM_016247.3(IMPG2): c.3262C> T (p.Arg1088Ter)single nucleotide variantPathogenicGRCh37Chr 3, 100949961: 100949961
30NM_152443.2(RDH12): c.776delG (p.Glu260Argfs)deletionPathogenicGRCh37Chr 14, 68196025: 68196025
31USH2ANM_206933.2(USH2A): c.10544A> G (p.Asp3515Gly)single nucleotide variantPathogenicGRCh37Chr 1, 215956121: 215956121
32USH2ANM_206933.2(USH2A): c.15233C> G (p.Pro5078Arg)single nucleotide variantPathogenicGRCh37Chr 1, 215807865: 215807865
33USH2ANM_206933.2(USH2A): c.2802T> G (p.Cys934Trp)single nucleotide variantPathogenicGRCh37Chr 1, 216419934: 216419934
34USH2ANM_206933.2(USH2A): c.9751T> C (p.Cys3251Arg)single nucleotide variantPathogenicGRCh37Chr 1, 215972456: 215972456
35RDH12NM_152443.2(RDH12): c.377C> T (p.Ala126Val)single nucleotide variantPathogenicrs202126574GRCh37Chr 14, 68192801: 68192801
36USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)single nucleotide variantPathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
37USH2ANM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly)single nucleotide variantPathogenicrs80338904GRCh37Chr 1, 215844427: 215844427
38USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
39USH2ANM_206933.2(USH2A): c.8559-2A> Gsingle nucleotide variantPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
40TULP1NM_003322.4(TULP1): c.1145T> C (p.Phe382Ser)single nucleotide variantPathogenicrs121909076GRCh37Chr 6, 35471593: 35471593
41CRXNM_000554.4(CRX): c.239A> C (p.Glu80Ala)single nucleotide variantPathogenicrs104894671GRCh37Chr 19, 48339638: 48339638
42CRXCRX, 1-BP DEL, 502GdeletionPathogenic
43CRXNM_000554.4(CRX): c.121C> T (p.Arg41Trp)single nucleotide variantPathogenicrs104894672GRCh37Chr 19, 48339520: 48339520
44CRXNM_000554.4(CRX): c.122G> A (p.Arg41Gln)single nucleotide variantPathogenicrs61748436GRCh37Chr 19, 48339521: 48339521
45CRXCRX, 1-BP DEL, 615CdeletionPathogenic
46CRXCRX, 3-BP DEL/2-BP INS, NT816indelPathogenic
47PRPH2NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg)single nucleotide variantPathogenicrs61755817GRCh37Chr 6, 42672195: 42672195
48RPE65NM_000329.2(RPE65): c.118G> A (p.Gly40Ser)single nucleotide variantPathogenicrs61751281GRCh37Chr 1, 68912520: 68912520

Expression for genes affiliated with Cone-Rod Dystrophy

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Search GEO for disease gene expression data for Cone-Rod Dystrophy.

Pathways for genes affiliated with Cone-Rod Dystrophy

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Compounds for genes affiliated with Cone-Rod Dystrophy

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Sources:
24HMDB, 43Novoseek, 28IUPHAR, 12DrugBank
See all sources

Compounds related to Cone-Rod Dystrophy according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1Cyclic GMP2410.1PDE6B, GUCY2D
211-cis-retinol43 2410.9ABCA4, RPE65, RHO
3cgmp43 2810.8PDE6B, RHO, GUCY2D
4retinoid439.6RHO, ABCA4, RPE65
5vitamin a43 24 1211.6RPE65, RDH12, RHO, GUCY2D, ABCA4

GO Terms for genes affiliated with Cone-Rod Dystrophy

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Cellular components related to Cone-Rod Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segment membraneGO:006034210.2RHO, RDH12
2photoreceptor outer segment membraneGO:004262210.1ROM1, RHO
3ciliary basal bodyGO:003606410.1TOPORS, RP2
4photoreceptor inner segmentGO:000191710.1TULP1, RHO
5photoreceptor outer segmentGO:00017509.9TULP1, RHO
6photoreceptor disc membraneGO:00973819.8ABCA4, GUCY2D, PDE6B, RHO

Biological processes related to Cone-Rod Dystrophy according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1phototransductionGO:000760210.2UNC119, TULP1
2retina development in camera-type eyeGO:006004110.0TULP1, RHO, PDE6B, PRPH2
3regulation of rhodopsin mediated signaling pathwayGO:00224009.9GUCY2D, RHO, PDE6B
4photoreceptor cell maintenanceGO:00454949.9USH2A, TULP1, ABCA4, RDH12
5retinoid metabolic processGO:00015239.8RPE65, RDH12, ABCA4, RHO
6rhodopsin mediated signaling pathwayGO:00160569.8RHO, PDE6B, GUCY2D
7detection of light stimulus involved in visual perceptionGO:00509089.8BEST1, EYS
8response to stimulusGO:00508969.6PRCD, RIMS1, USH2A, RAX2
9phototransduction, visible lightGO:00076039.6PDE6B, RPE65, GUCY2D, ABCA4, RHO, RDH12
10visual perceptionGO:00076017.5RP2, BEST1, PRCD, PRPH2, UNC119, GUCY2D

Products for genes affiliated with Cone-Rod Dystrophy

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Sources for Cone-Rod Dystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet