Cone-Rod Dystrophy 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CORD6 MCID: CNR007 MIFTS: 53	Cone-Rod Dystrophy 6 (CORD6) Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Cone-Rod Dystrophy 6

MalaCards integrated aliases for Cone-Rod Dystrophy 6:

Name: Cone-Rod Dystrophy 6 ⁵⁷ ¹² ²⁰ ⁷² ²⁹ ⁶ ¹⁵

Retinal Cone Dystrophy 2 ⁵⁷ ¹² ²⁰ ⁷⁰

Cord6 ⁵⁷ ¹² ⁷² ⁵⁴

Progressive Cone Degeneration ²⁰ ⁶ ⁷⁰

Progressive Cone Dystrophy ⁵⁸ ⁵⁴ ⁶

Rcd2 ⁵⁷ ¹² ²⁰

Cone Dystrophy ⁵⁸ ⁷⁰

Retinal Cone Dystrophy 2; Rcd2 ⁵⁷

Dystrophy, Cone-Rod, Type 6 ³⁹

Cone Dystrophy Progressive ²⁰

Retinitis Pigmentosa 6 ⁷⁰

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Miscellaneous:
age-dependent penetrance
onset in the first to sixth decade of life
progressive deterioration of central vision
intrafamilial variability in severity

Inheritance:
autosomal dominant
autosomal recessive (in 1 family)

HPO:

³¹

cone-rod dystrophy 6:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course childhood onset age-dependent penetrance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

Orphanet: ⁵⁸

Rare eye diseases

External Ids:

Disease Ontology ¹² DOID:0111011

OMIM® ⁵⁷ 601777

OMIM Phenotypic Series ⁵⁷ PS120970

MeSH ⁴⁴ D058499

ICD10 via Orphanet ³³ H35.5

UMLS via Orphanet ⁷¹ C0271092

Orphanet ⁵⁸ ORPHA1871

MedGen ⁴¹ C1866293

SNOMED-CT via HPO ⁶⁸ 13164000 23289000 238828009 more

UMLS ⁷⁰ C0730290 C1839368 C1866293 more

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Summaries for Cone-Rod Dystrophy 6

UniProtKB/Swiss-Prot : ⁷² Cone-rod dystrophy 6: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

MalaCards based summary : Cone-Rod Dystrophy 6, also known as retinal cone dystrophy 2, is related to cone dystrophy 3 and cone dystrophy 4. An important gene associated with Cone-Rod Dystrophy 6 is GUCY2D (Guanylate Cyclase 2D, Retinal), and among its related pathways/superpathways are Sweet Taste Signaling and Metabolism of fat-soluble vitamins. The drugs Anti-Infective Agents and interferons have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and liver, and related phenotypes are visual impairment and abnormality of retinal pigmentation

Disease Ontology : ¹² A cone-rod dystrophy that has material basis in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1.

More information from OMIM: 601777 PS120970

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Related Diseases for Cone-Rod Dystrophy 6

Diseases in the Cone-Rod Dystrophy 2 family:

Cone-Rod Dystrophy 1	Cone-Rod Dystrophy 5
Cone-Rod Dystrophy 6	Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 3	Cone-Rod Dystrophy 8
Cone-Rod Dystrophy 13	Cone-Rod Dystrophy 10
Cone-Rod Dystrophy 11	Cone-Rod Dystrophy 12
Cone-Rod Dystrophy 9	Cone-Rod Dystrophy 15
Cone-Rod Dystrophy 16	Cone-Rod Dystrophy 17
Cone-Rod Dystrophy 18	Cone-Rod Dystrophy 19
Cone-Rod Dystrophy 20	Cone-Rod Dystrophy 21

Diseases related to Cone-Rod Dystrophy 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 209)

#	Related Disease	Score	Top Affiliating Genes
1	cone dystrophy 3	33.3	KCNV2 GUCA1A CACNA2D4
2	cone dystrophy 4	33.1	PDE6C CACNA2D4
3	newfoundland rod-cone dystrophy	33.0	RDH5 PRPH2
4	blue cone monochromacy	32.9	PDE6C GNAT2 CNGB3 CNGA3
5	vitreoretinochoroidopathy	32.9	PRPH2 BEST1 ABCA4
6	cone-rod dystrophy, x-linked, 2	32.8	RPGR CACNA1F
7	cone-rod dystrophy, x-linked, 1	32.6	RPGR CACNA1F
8	oguchi disease	32.1	RDH5 PDE6B CACNA1F
9	leber congenital amaurosis 4	32.1	RD3 PDE6C GUCY2D
10	bardet-biedl syndrome	31.9	RPGR PRPH2 PCDH15 MKKS GUCY2D ARL3
11	night blindness	31.2	RPGR RDH5 PRPH2 PDE6B KCNV2 GUCY2D
12	fundus albipunctatus	30.9	RPGR RDH5 PRPH2 PDE6B GUCY2D CACNA1F
13	scotoma	30.9	RPGR KCNV2 GUCY2D GUCA1A CNGB3 CNGA3
14	retinitis	30.8	RPGR PRPH2 PDE6B ABCA4
15	cone-rod dystrophy, x-linked, 3	30.7	RPGR CACNA2D4 CACNA1F
16	yemenite deaf-blind hypopigmentation syndrome	30.6	GUCY2D ABCA4
17	color blindness	30.5	RPGR PDE6C PDE6B GUCY2D GNAT2 CNGB3
18	achromatopsia	30.5	RPGR RD3 PRPH2 PDE6C PDE6B KCNV2
19	macular degeneration, age-related, 1	30.5	RPGR RDH5 PRPH2 PDE6B GUCY2D GNAT2
20	night blindness, congenital stationary, type 2a	30.4	PDE6B GNAT2 CACNA1F
21	joubert syndrome 1	30.4	RPGR RD3 PDE6C GUCY2D CNGB3 ARL3
22	gyrate atrophy of choroid and retina	30.4	RPGR PRPH2 BEST1 ABCA4
23	tritanopia	30.4	PDE6C GNAT2 CNGB3 CNGA3
24	leber congenital amaurosis 2	30.4	RPGR RD3 GUCY2D CNGB3
25	myopia	30.4	RPGR RDH5 PDE6B CNGB3 CACNA1F
26	usher syndrome	30.3	RPGR PRPH2 PDE6B PCDH15 GUCY2D GUCA1A
27	retinal degeneration	30.3	RPGR RDH5 RD3 PRPH2 PDE6B MKKS
28	achromatopsia 3	30.3	PDE6C GUCY2D GNAT2 CNGB3 CNGA3 CACNA1F
29	retinal disease	30.3	RPGR RDH5 PRPH2 PDE6B PCDH15 MKKS
30	usher syndrome type 2	30.3	RPGR PRPH2 PDE6B PCDH15 GUCY2D ABCA4
31	pathologic nystagmus	30.3	RPGR PDE6C KCNV2 GUCY2D GNAT2 CNGB3
32	choroideremia	30.2	RPGR PRPH2 GUCY2D CNGB3 CNGA3 BEST1
33	retinoschisis 1, x-linked, juvenile	30.2	RPGR GUCY2D GNAT2 CNGB3 CNGA3 CACNA1F
34	congenital stationary night blindness	30.1	RPGR RDH5 RD3 PRPH2 PDE6C PDE6B
35	eye disease	30.1	RPGR PRPH2 PDE6B LGALS4 GUCY2D GNAT2
36	cone-rod dystrophy 2	30.1	RPGR RDH5 RD3 PRPH2 PDE6C PDE6B
37	stargardt disease	29.9	RPGR RDH5 PRPH2 PDE6B KCNV2 GUCY2D
38	cone dystrophy	29.7	RPGR RDH5 PRPH2 PDE6C PDE6B PCDH15
39	leber plus disease	29.7	RPGR RDH5 RD3 PRPH2 PDE6C PDE6B
40	retinitis pigmentosa	29.7	RPGR RDH5 RD3 PRPH2 PDE6C PDE6B
41	fundus dystrophy	29.6	RPGR RDH5 RD3 PRPH2 PDE6C PDE6B
42	retinal cone dystrophy 3b	11.8
43	retinal cone dystrophy 3a	11.7
44	retinal cone dystrophy 4	11.6
45	microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1	11.5
46	oculoauricular syndrome	11.4
47	cone dystrophy, x-linked, with tapetal-like sheen	11.3
48	peripheral cone dystrophy	11.2
49	gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	11.1
50	syndromic rod-cone dystrophy	11.1

Graphical network of the top 20 diseases related to Cone-Rod Dystrophy 6:

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Symptoms & Phenotypes for Cone-Rod Dystrophy 6

Human phenotypes related to Cone-Rod Dystrophy 6:

⁵⁸ ³¹ (show all 12)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	visual impairment ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000505
2	abnormality of retinal pigmentation ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0007703
3	photophobia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000613
4	abnormal electroretinogram ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000512
5	color vision defect ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000551
6	nystagmus ³¹			HP:0000639
7	reduced visual acuity ³¹			HP:0007663
8	progressive night blindness ³¹			HP:0007675
9	cone/cone-rod dystrophy ³¹			HP:0000548
10	peripheral visual field loss ³¹			HP:0007994
11	macular atrophy ³¹			HP:0007401
12	hemeralopia ³¹			HP:0012047

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Head And Neck Eyes:
nystagmus
photophobia
hemeralopia
glare
decreased central vision
more

Clinical features from OMIM®:

601777 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Cone-Rod Dystrophy 6 according to GeneCards Suite gene sharing:

²⁶ (show all 11)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00055-A-1	9.77	GUCY2D
2	Decreased viability	GR00055-A-2	9.77	GUCY2D
3	Decreased viability	GR00221-A-1	9.77	GUCY2D
4	Decreased viability	GR00221-A-2	9.77	GUCY2D
5	Decreased viability	GR00221-A-3	9.77	GUCY2D
6	Decreased viability	GR00221-A-4	9.77	GUCY2D
7	Decreased viability	GR00240-S-1	9.77	GUCY2D RDH5
8	Decreased viability	GR00249-S	9.77	GUCY2D KCNV2 LGALS4 PCDH15 PDE6B PRPH2
9	Decreased viability	GR00381-A-1	9.77	CACNA2D4 GUCA1A RDH5
10	Decreased viability	GR00386-A-1	9.77	GNAT2 GUCA1A GUCY2D KCNV2 LGALS4 PRPH2
11	Decreased viability	GR00402-S-2	9.77	BEST1 GUCY2D KCNV2 PRPH2

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 6:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10.06	ABCA4 ARL3 CACNA1F CNGA3 CNGB3 GNAT2
2	vision/eye	MP:0005391	9.6	ABCA4 ARL3 BEST1 CACNA1F CACNA2D4 CNGA3
3	pigmentation	MP:0001186	9.35	ABCA4 BEST1 PDE6B PRPH2 RPGR

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Drugs & Therapeutics for Cone-Rod Dystrophy 6

Drugs for Cone-Rod Dystrophy 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#	Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1	Anti-Infective Agents		Phase 1, Phase 2
2	interferons		Phase 1, Phase 2
3	Interferon-gamma		Phase 1, Phase 2
4	Antiviral Agents		Phase 1, Phase 2

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Pilot Phase I/II Study of the Evaluation of Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS)	Terminated	NCT02338973	Phase 1, Phase 2	Interferon gamma-1b
2	Foundation Fighting Blindness Registry, My Retina Tracker	Recruiting	NCT02435940
3	Phenotype Correlates Genotype of Inherited Retina Dystrophies	Recruiting	NCT03990727
4	Functional Study of Intronic Variants in Inherited Cone Disorders	Not yet recruiting	NCT04658251

Search NIH Clinical Center for Cone-Rod Dystrophy 6

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Genetic Tests for Cone-Rod Dystrophy 6

Genetic tests related to Cone-Rod Dystrophy 6:

#	Genetic test	Affiliating Genes
1	Cone-Rod Dystrophy 6 ²⁹	GUCY2D

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Anatomical Context for Cone-Rod Dystrophy 6

MalaCards organs/tissues related to Cone-Rod Dystrophy 6:

⁴⁰

Eye, Retina, Liver, Skin

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Publications for Cone-Rod Dystrophy 6

Articles related to Cone-Rod Dystrophy 6:

(show top 50) (show all 54)

#	Title	Authors	PMID	Year
1	Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase. ⁶ ⁶¹ ⁵⁷ ⁵⁴	Gregory-Evans K...Moore AT	10647719	2000
2	Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. ⁶¹ ⁵⁷ ⁶	Udar N...Small KW	12552567	2003
3	Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. ⁶ ⁶¹ ⁵⁷	Kelsell RE...Hunt DM	9618177	1998
4	Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p. ⁶ ⁵⁷ ⁶¹	Kelsell RE...Hunt DM	9097965	1997
5	A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis. ⁵⁷ ⁶	Ugur Iseri SA...Tolun A	20517349	2010
6	Clinical study of a large family with autosomal dominant progressive cone degeneration. ⁵⁷ ⁶	Small KW...Gehrs K	8554074	1996
7	Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy. ⁵⁴ ⁶ ⁶¹	Wilkie SE...Hunt DM	11115851	2000
8	Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. ⁶	Maggi J...Berger W	33546218	2021
9	Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. ⁶	Jespersgaard C...Gronskov K	30718709	2019
10	Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing. ⁶	Srikrupa NN...Soumittra N	29068479	2018
11	The genetic profile of Leber congenital amaurosis in an Australian cohort. ⁶	Thompson JA...Lamey TM	29178642	2017
12	Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. ⁶	Carss KJ...Raymond FL	28041643	2017
13	Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. ⁶	Astuti GD...Cremers FP	26626312	2016
14	Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. ⁶	Patel N...Alkuraya FS	26355662	2016
15	GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies. ⁶	Jiang F...Li Y	26298565	2015
16	Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast. ⁶	Roman AJ...Jacobson SG	26253563	2015
17	Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1. ⁶	Zulliger R...Azadi S	25477517	2015
18	Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay. ⁶	Khan AO...Bolz HJ	24997176	2014
19	GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference? ⁶	Zobor D...Jagle H	24875811	2014
20	Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants. ⁶	Jacobson SG...Dizhoor AM	23035049	2013
21	Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. ⁶	Li L...Hejtmancik JF	21602930	2011
22	Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. ⁶	Coppieters F...De Baere E	20683928	2010
23	Activation of retinal guanylyl cyclase RetGC1 by GCAP1: stoichiometry of binding and effect of new LCA-related mutations. ⁶	Peshenko IV...Dizhoor AM	20050595	2010
24	Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. ⁶	Stone EM	17964524	2007
25	Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. ⁶	Simonelli F...Banfi S	17724218	2007
26	Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. ⁶	Yzer S...Cremers FP	16505055	2006
27	Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients. ⁶	Ito S...Miyake Y	15175914	2004
28	Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1. ⁵⁷	Downes SM...Bird AC	11709018	2001
29	Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA). ⁶	Rozet JM...Kaplan J	11328726	2001
30	Spectrum of retGC1 mutations in Leber's congenital amaurosis. ⁶	Perrault I...Kaplan J	10951519	2000
31	Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p: hot spots for mutations in autosomal dominant cone-rod dystrophy? ⁶	Weigell-Weber M...Hergersberg M	10676808	2000
32	A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan. ⁶	El-Shanti H...Stone EM	10636733	1999
33	A retGC-1 mutation in autosomal dominant cone-rod dystrophy. ⁵⁷	Perrault I...Kaplan J	9683616	1998
34	Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. ⁶	Perrault I...Kaplan J	8944027	1996
35	Mapping of autosomal dominant cone degeneration to chromosome 17p. ⁵⁷	Small KW...Gehrs K	8554076	1996
36	Retinal diseases linked with photoreceptor guanylate cyclase. ⁵⁴ ⁶¹	Duda T...Koch KW	11952088	2002
37	Mutations in the rod outer segment membrane guanylate cyclase in a cone-rod dystrophy cause defects in calcium signaling. ⁵⁴ ⁶¹	Duda T...Sharma RK	10529237	1999
38	GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone-rod dystrophy but not for stationary night blindness. ⁶¹	Peshenko IV...Dizhoor AM	33109612	2020
39	GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone-rod dystrophy but not for stationary night blindness. ⁶¹	Peshenko IV...Dizhoor AM	33453835	2020
40	Possible dual contribution of a novel GUCY2D mutation in the development of retinal degeneration in a consanguineous population. ⁶¹	Salehi Chaleshtori AR...Noruzinia M	31470097	2020
41	Somatic Gene Editing of GUCY2D by AAV-CRISPR/Cas9 Alters Retinal Structure and Function in Mouse and Macaque. ⁶¹	McCullough KT...Boye SE	30358434	2019
42	CO2/bicarbonate modulates cone photoreceptor ROS-GC1 and restores its CORD6-linked catalytic activity. ⁶¹	Duda T...Sharma RK	29427171	2018
43	GUCY2D Cone-Rod Dystrophy-6 Is a "Phototransduction Disease" Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1. ⁶¹	Sato S...Dizhoor AM	29440533	2018
44	The R838S Mutation in Retinal Guanylyl Cyclase 1 (RetGC1) Alters Calcium Sensitivity of cGMP Synthesis in the Retina and Causes Blindness in Transgenic Mice. ⁶¹	Dizhoor AM...Peshenko IV	27703005	2016
45	Transgenic zebrafish expressing mutant human RETGC-1 exhibit aberrant cone and rod morphology. ⁶¹	Collery RF...Kennedy BN	23328348	2013
46	A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy. ⁶¹	Hughes AE...Bradley DT	22695961	2012
47	Use of spectral domain-optical coherence tomography to visualize photoreceptor abnormalities in cone-rod dystrophy 6. ⁶¹	Kim BJ...Goldberg MF	21218126	2011
48	Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. ⁵⁴	Thiadens AA...Klaver CC	20079539	2010
49	RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus. ⁵⁴	Nakamura M...Miyake Y	12906118	2003
50	Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). ⁵⁴	Aligianis IA...Maher ER	12205108	2002

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Genes for Cone-Rod Dystrophy 6

Genes related to Cone-Rod Dystrophy 6 (10 elite genes):

(show top 50) (show all 55)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	1397.4	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	10676808 12552567 33546218 (more) 10647719 11115851 11952088 10529237
2	KCNV2	Potassium Voltage-Gated Channel Modifier Subfamily V Member 2	Protein Coding	407.29	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	30718709
3	CACNA1F	Calcium Voltage-Gated Channel Subunit Alpha1 F	Protein Coding	404.49	Pathogenic ⁶ DISEASES inferred ¹⁵	30718709
4	PRPH2	Peripherin 2	Protein Coding	403.98	Pathogenic ⁶ DISEASES inferred ¹⁵	30718709
5	ABCA4	ATP Binding Cassette Subfamily A Member 4	Protein Coding	403.94	Pathogenic ⁶ DISEASES inferred ¹⁵	30718709
6	ARL3	ADP Ribosylation Factor Like GTPase 3	Protein Coding	400	Pathogenic ⁶
7	GUCA1A	Guanylate Cyclase Activator 1A	Protein Coding	357.41	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵	9425234 15735604
8	CNGB3	Cyclic Nucleotide Gated Channel Subunit Beta 3	Protein Coding	355.61	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵	15161866
9	GNAT2	G Protein Subunit Alpha Transducin 2	Protein Coding	354.7	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵	14609822
10	PDE6C	Phosphodiesterase 6C	Protein Coding	350	Causative germline mutation ⁵⁸	19615668
11	CACNA2D4	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 4	Protein Coding	31.73	Likely pathogenic ⁶ DISEASES inferred ¹⁵	30718709
12	PDE6B	Phosphodiesterase 6B	Protein Coding	30.78	Likely pathogenic ⁶ DISEASES inferred ¹⁵	30718709
13	MKKS	MKKS Centrosomal Shuttling Protein	Protein Coding	25	Likely pathogenic ⁶	30718709
14	PCDH15	Protocadherin Related 15	Protein Coding	25	Likely pathogenic ⁶	30718709
15	CNGA3	Cyclic Nucleotide Gated Channel Subunit Alpha 3	Protein Coding	16.04	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	20079539 11536077 12205108
16	RPGR	Retinitis Pigmentosa GTPase Regulator	Protein Coding	15.71	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	8123616
17	BEST1	Bestrophin 1	Protein Coding	12.23	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
18	RDH5	Retinol Dehydrogenase 5	Protein Coding	10.87	Novoseek inferred ⁵⁴	11448328 12906118 11053295
19	LGALS4	Galectin 4	Protein Coding	7.6	DISEASES inferred ¹⁵
20	RD3	RD3 Regulator Of GUCY2D	Protein Coding	7.22	DISEASES inferred ¹⁵
21	PDE6H	Phosphodiesterase 6H	Protein Coding	7.18	DISEASES inferred ¹⁵
22	PRCD	Photoreceptor Disc Component	Protein Coding	7.17	DISEASES inferred ¹⁵
23	GUCY2F	Guanylate Cyclase 2F, Retinal	Protein Coding	6.54	DISEASES inferred ¹⁵
24	CD2	CD2 Molecule	Protein Coding	6.4	DISEASES inferred ¹⁵
25	PDE6A	Phosphodiesterase 6A	Protein Coding	6.27	DISEASES inferred ¹⁵
26	ZBTB22	Zinc Finger And BTB Domain Containing 22	Protein Coding	6.12	DISEASES inferred ¹⁵
27	PDE6D	Phosphodiesterase 6D	Protein Coding	6.04	DISEASES inferred ¹⁵
28	GUCA1B	Guanylate Cyclase Activator 1B	Protein Coding	6.01	DISEASES inferred ¹⁵
29	SERTAD4	SERTA Domain Containing 4	Protein Coding	5.91	DISEASES inferred ¹⁵
30	DAD1	Defender Against Cell Death 1	Protein Coding	5.85	DISEASES inferred ¹⁵
31	CD48	CD48 Molecule	Protein Coding	5.84	DISEASES inferred ¹⁵
32	WBP11	WW Domain Binding Protein 11	Protein Coding	5.68	DISEASES inferred ¹⁵
33	MAP9	Microtubule Associated Protein 9	Protein Coding	5.67	DISEASES inferred ¹⁵
34	ELAVL2	ELAV Like RNA Binding Protein 2	Protein Coding	5.65	DISEASES inferred ¹⁵
35	RMDN2	Regulator Of Microtubule Dynamics 2	Protein Coding	5.64	DISEASES inferred ¹⁵
36	PDE6G	Phosphodiesterase 6G	Protein Coding	5.59	DISEASES inferred ¹⁵
37	GOLT1B	Golgi Transport 1B	Protein Coding	5.57	DISEASES inferred ¹⁵
38	ARR3	Arrestin 3	Protein Coding	5.56	DISEASES inferred ¹⁵
39	STK38L	Serine/Threonine Kinase 38 Like	Protein Coding	5.51	DISEASES inferred ¹⁵
40	ELAVL4	ELAV Like RNA Binding Protein 4	Protein Coding	5.5	DISEASES inferred ¹⁵
41	RCOR3	REST Corepressor 3	Protein Coding	5.45	DISEASES inferred ¹⁵
42	TAMALIN	Trafficking Regulator And Scaffold Protein Tamalin	Protein Coding	5.45	DISEASES inferred ¹⁵
43	CD8A	CD8a Molecule	Protein Coding	5.45	DISEASES inferred ¹⁵
44	INSC	INSC Spindle Orientation Adaptor Protein	Protein Coding	5.43	DISEASES inferred ¹⁵
45	GUF1	GTP Binding Elongation Factor GUF1	Protein Coding	5.42	DISEASES inferred ¹⁵
46	KCNAB3	Potassium Voltage-Gated Channel Subfamily A Regulatory Beta Subunit 3	Protein Coding	5.39	DISEASES inferred ¹⁵
47	DCHS1	Dachsous Cadherin-Related 1	Protein Coding	5.37	DISEASES inferred ¹⁵
48	ELAVL3	ELAV Like RNA Binding Protein 3	Protein Coding	5.34	DISEASES inferred ¹⁵
49	RPGRIP1	RPGR Interacting Protein 1	Protein Coding	5.34	DISEASES inferred ¹⁵
50	CABP4	Calcium Binding Protein 4	Protein Coding	5.34	DISEASES inferred ¹⁵

Sources

Variations for Cone-Rod Dystrophy 6

ClinVar genetic disease variations for Cone-Rod Dystrophy 6:

⁶ (show top 50) (show all 275)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ARL3	NM_004311.4(ARL3):c.296G>T (p.Arg99Ile)	SNV	Pathogenic	617788	rs1590122229	GRCh37: 10:104449669-104449669 GRCh38: 10:102689912-102689912
2	CACNA1F	NM_001256789.3(CACNA1F):c.3853C>T (p.Arg1285Cys)	SNV	Pathogenic	438126	rs1557106557	GRCh37: X:49069216-49069216 GRCh38: X:49212756-49212756
3	GUCY2D	NM_000180.4(GUCY2D):c.2846T>C (p.Ile949Thr)	SNV	Pathogenic	9359	rs267606857	GRCh37: 17:7918722-7918722 GRCh38: 17:8015404-8015404
4	GUCY2D	NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)	SNV	Pathogenic	98563	rs61750168	GRCh37: 17:7917236-7917236 GRCh38: 17:8013918-8013918
5	GUCY2D	NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter)	SNV	Pathogenic	497765	rs1555635778	GRCh37: 17:7918069-7918069 GRCh38: 17:8014751-8014751
6	GUCY2D	NM_000180.4(GUCY2D):c.3224+1G>C	SNV	Pathogenic	581095	rs757823463	GRCh37: 17:7919609-7919609 GRCh38: 17:8016291-8016291
7	GUCY2D	NC_000017.11:g.(?_8002902)_(8016550_?)del	Deletion	Pathogenic	584235		GRCh37: 17:7906220-7919868 GRCh38: 17:8002902-8016550
8	GUCY2D	NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter)	SNV	Pathogenic	587413	rs1006935198	GRCh37: 17:7918366-7918366 GRCh38: 17:8015048-8015048
9	GUCY2D	NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)	Deletion	Pathogenic	98602	rs61749670	GRCh37: 17:7906752-7906752 GRCh38: 17:8003434-8003434
10	GUCY2D	NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)	SNV	Pathogenic	98563	rs61750168	GRCh37: 17:7917236-7917236 GRCh38: 17:8013918-8013918
11	GUCY2D	NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter)	SNV	Pathogenic	638494	rs748798324	GRCh37: 17:7910841-7910841 GRCh38: 17:8007523-8007523
12	GUCY2D	NM_000180.4(GUCY2D):c.914del (p.His305fs)	Deletion	Pathogenic	642720	rs1598144694	GRCh37: 17:7907362-7907362 GRCh38: 17:8004044-8004044
13	GUCY2D	NM_000180.4(GUCY2D):c.1245del (p.Phe415fs)	Deletion	Pathogenic	803313	rs1598146173	GRCh37: 17:7909895-7909895 GRCh38: 17:8006577-8006577
14	GUCY2D	NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter)	SNV	Pathogenic	98540	rs61749679	GRCh37: 17:7909997-7909997 GRCh38: 17:8006679-8006679
15	GUCY2D	NM_000180.4(GUCY2D):c.1957-2A>G	SNV	Pathogenic	803315	rs945734402	GRCh37: 17:7915766-7915766 GRCh38: 17:8012448-8012448
16	GUCY2D	NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter)	SNV	Pathogenic	497765	rs1555635778	GRCh37: 17:7918069-7918069 GRCh38: 17:8014751-8014751
17	GUCY2D	NM_000180.4(GUCY2D):c.2598G>C (p.Lys866Asn)	SNV	Pathogenic	471238	rs201587670	GRCh37: 17:7918198-7918198 GRCh38: 17:8014880-8014880
18	GUCY2D	NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter)	SNV	Pathogenic	98540	rs61749679	GRCh37: 17:7909997-7909997 GRCh38: 17:8006679-8006679
19	GUCY2D	NM_000180.4(GUCY2D):c.2988C>G (p.Tyr996Ter)	SNV	Pathogenic	851765		GRCh37: 17:7919104-7919104 GRCh38: 17:8015786-8015786
20	GUCY2D	NM_000180.4(GUCY2D):c.3065T>A (p.Leu1022Ter)	SNV	Pathogenic	864510		GRCh37: 17:7919266-7919266 GRCh38: 17:8015948-8015948
21	GUCY2D	NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter)	SNV	Pathogenic	98554	rs61750161	GRCh37: 17:7915789-7915789 GRCh38: 17:8012471-8012471
22	GUCY2D	NM_000180.4(GUCY2D):c.2945-2A>C	SNV	Pathogenic	915393		GRCh37: 17:7919059-7919059 GRCh38: 17:8015741-8015741
23	GUCY2D	NM_000180.4(GUCY2D):c.2516del (p.Thr839fs)	Deletion	Pathogenic	938393		GRCh37: 17:7918022-7918022 GRCh38: 17:8014704-8014704
24	GUCY2D	NM_000180.4(GUCY2D):c.2595del (p.Lys866fs)	Deletion	Pathogenic	861651		GRCh37: 17:7918195-7918195 GRCh38: 17:8014877-8014877
25	GUCY2D	NM_000180.4(GUCY2D):c.1573C>T (p.Gln525Ter)	SNV	Pathogenic	861650		GRCh37: 17:7911255-7911255 GRCh38: 17:8007937-8007937
26	GUCY2D	NM_000180.4(GUCY2D):c.65G>A (p.Trp22Ter)	SNV	Pathogenic	961067		GRCh37: 17:7906430-7906430 GRCh38: 17:8003112-8003112
27	GUCY2D	NM_000180.4(GUCY2D):c.1582C>T (p.Arg528Ter)	SNV	Pathogenic	961926		GRCh37: 17:7911264-7911264 GRCh38: 17:8007946-8007946
28	GUCY2D	NM_000180.4(GUCY2D):c.3028G>T (p.Glu1010Ter)	SNV	Pathogenic	1031451		GRCh37: 17:7919144-7919144 GRCh38: 17:8015826-8015826
29	KCNV2	NM_133497.4(KCNV2):c.357dup (p.Lys120fs)	Duplication	Pathogenic	636178	rs1402837406	GRCh37: 9:2718092-2718093 GRCh38: 9:2718092-2718093
30	ABCA4	NM_000350.3(ABCA4):c.885del (p.Leu296fs)	Deletion	Pathogenic	438109	rs764759172	GRCh37: 1:94546248-94546248 GRCh38: 1:94080692-94080692
31	ABCA4	NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)	SNV	Pathogenic	99428	rs61750641	GRCh37: 1:94471055-94471055 GRCh38: 1:94005499-94005499
32	GUCY2D	NM_000180.4(GUCY2D):c.2395_2398dup (p.His800fs)	Duplication	Pathogenic	939554		GRCh37: 17:7917328-7917329 GRCh38: 17:8014010-8014011
33	GUCY2D	NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)	SNV	Pathogenic	9357	rs61750173	GRCh37: 17:7918019-7918019 GRCh38: 17:8014701-8014701
34	GUCY2D	NM_000180.4(GUCY2D):c.926_939del (p.Leu309fs)	Deletion	Pathogenic	957347		GRCh37: 17:7907372-7907385 GRCh38: 17:8004054-8004067
35	GUCY2D	NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)	SNV	Pathogenic	9355	rs61750172	GRCh37: 17:7918018-7918018 GRCh38: 17:8014700-8014700
36	GUCY2D	NM_000180.4(GUCY2D):c.2511G>C (p.Glu837Asp)	SNV	Pathogenic	453243	rs28933695	GRCh37: 17:7918017-7918017 GRCh38: 17:8014699-8014699
37	GUCY2D	NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)	SNV	Pathogenic	9355	rs61750172	GRCh37: 17:7918018-7918018 GRCh38: 17:8014700-8014700
38	GUCY2D	NM_000180.4(GUCY2D):c.2511G>C (p.Glu837Asp)	SNV	Pathogenic	453244	rs28933695	GRCh37: 17:7918017-7918017 GRCh38: 17:8014699-8014699
39	PRPH2	NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)	SNV	Pathogenic	13183	rs61755783	GRCh37: 6:42689649-42689649 GRCh38: 6:42721911-42721911
40	GUCY2D	NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)	SNV	Pathogenic/Likely pathogenic	9357	rs61750173	GRCh37: 17:7918019-7918019 GRCh38: 17:8014701-8014701
41	GUCY2D	NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp)	SNV	Likely pathogenic	197118	rs138836357	GRCh37: 17:7909747-7909747 GRCh38: 17:8006429-8006429
42	GUCY2D	NM_000180.4(GUCY2D):c.1972C>T (p.His658Tyr)	SNV	Likely pathogenic	803316	rs1598149154	GRCh37: 17:7915783-7915783 GRCh38: 17:8012465-8012465
43	GUCY2D	NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys)	SNV	Likely pathogenic	98590	rs61749668	GRCh37: 17:7906672-7906672 GRCh38: 17:8003354-8003354
44	PCDH15	NM_033056.4(PCDH15):c.5845_5846CA[1] (p.His1949fs)	Microsatellite	Likely pathogenic	636185	rs781339303	GRCh37: 10:55581638-55581639 GRCh38: 10:53821878-53821879
45	PDE6B	NM_000283.3(PDE6B):c.1670A>G (p.His557Arg)	SNV	Likely pathogenic	636186	rs536742386	GRCh37: 4:655978-655978 GRCh38: 4:662189-662189
46	GUCY2D	NM_000180.4(GUCY2D):c.1957-2A>G	SNV	Likely pathogenic	803315	rs945734402	GRCh37: 17:7915766-7915766 GRCh38: 17:8012448-8012448
47	MKKS	NM_018848.3(MKKS):c.1239_1242dup (p.Thr415Ter)	Duplication	Likely pathogenic	585164	rs1306231185	GRCh37: 20:10388293-10388294 GRCh38: 20:10407645-10407646
48	GUCY2D	NM_000180.4(GUCY2D):c.2516C>G (p.Thr839Arg)	SNV	Likely pathogenic	635421	rs61750174	GRCh37: 17:7918022-7918022 GRCh38: 17:8014704-8014704
49	CACNA2D4	NM_172364.5(CACNA2D4):c.2120G>A (p.Arg707His)	SNV	Likely pathogenic	307853	rs76064926	GRCh37: 12:1965210-1965210 GRCh38: 12:1856044-1856044
50	USH2A	NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)	SNV	Uncertain significance	48547	rs41303287	GRCh37: 1:216243517-216243517 GRCh38: 1:216070175-216070175

UniProtKB/Swiss-Prot genetic disease variations for Cone-Rod Dystrophy 6:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	GUCY2D	p.Glu837Asp	VAR_003436	rs28933695
2	GUCY2D	p.Arg838Cys	VAR_003437	rs61750172
3	GUCY2D	p.Arg838His	VAR_015373	rs61750173
4	GUCY2D	p.Arg838Gly	VAR_071605
5	GUCY2D	p.Arg838Pro	VAR_071606
6	GUCY2D	p.Thr849Ala	VAR_071607
7	GUCY2D	p.Ile949Thr	VAR_071608	rs267606857
8	GUCY2D	p.Glu841Lys	VAR_082625
9	GUCY2D	p.Lys846Asn	VAR_082626
10	GUCY2D	p.Pro873Arg	VAR_082627	rs156796168

Sources

Expression for Cone-Rod Dystrophy 6

Search GEO for disease gene expression data for Cone-Rod Dystrophy 6.

Sources

Pathways for Cone-Rod Dystrophy 6

Pathways related to Cone-Rod Dystrophy 6 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Sweet Taste Signaling ⁶³ Show member pathways Bitter Taste Signaling ⁶³ Cellular Effects of Sildenafil ⁶³ Melatonin Signaling ⁶³ Sperm Motility ⁶³	12.62	KCNV2 GUCY2D CNGB3 CNGA3 CACNA2D4 CACNA1F
2	Metabolism of fat-soluble vitamins ⁶⁵ Show member pathways Metabolism of vitamin K ⁶⁵ Retinoid metabolism and transport ⁶⁵ The retinoid cycle in cones (daylight vision) ⁶⁵ Visual phototransduction ⁶⁵ Vitamin D (calciferol) metabolism ⁶⁵	11.88	RDH5 PDE6B GUCY2D GUCA1A ABCA4
3	Visual Cycle in Retinal Rods ⁶³	11.47	RDH5 PDE6B GUCY2D GUCA1A GNAT2 CNGB3
4	Phototransduction ³⁶ Show member pathways Activation of the phototransduction cascade ⁶⁵ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁵ The phototransduction cascade ⁶⁵ Visual signal transduction- Cones ¹ Visual signal transduction- Rods ¹	11.42	RDH5 PDE6C PDE6B GUCY2D GUCA1A GNAT2

Sources

GO Terms for Cone-Rod Dystrophy 6

Cellular components related to Cone-Rod Dystrophy 6 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane	GO:0016020	10.28	RDH5 PRPH2 PDE6C PDE6B PCDH15 KCNV2
2	cell projection	GO:0042995	9.91	RPGR RD3 PRPH2 GUCY2D GUCA1A GNAT2
3	photoreceptor inner segment	GO:0001917	9.46	RD3 PRPH2 GUCA1A GNAT2
4	photoreceptor outer segment membrane	GO:0042622	9.43	PDE6B GUCY2D GNAT2
5	photoreceptor outer segment	GO:0001750	9.36	RPGR RD3 PRPH2 PDE6B PCDH15 GUCY2D
6	transmembrane transporter complex	GO:1902495	9.32	CNGB3 CNGA3
7	photoreceptor disc membrane	GO:0097381	9.26	PDE6B GUCY2D GUCA1A ABCA4

Biological processes related to Cone-Rod Dystrophy 6 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transport	GO:0006811	9.88	KCNV2 CNGB3 CNGA3 CACNA2D4 CACNA1F BEST1
2	response to stimulus	GO:0050896	9.83	RPGR RDH5 RD3 PRPH2 PDE6C PDE6B
3	retina development in camera-type eye	GO:0060041	9.61	RD3 PRPH2 PDE6B
4	detection of light stimulus involved in visual perception	GO:0050908	9.55	PRPH2 GNAT2 CACNA2D4 CACNA1F BEST1
5	photoreceptor cell maintenance	GO:0045494	9.54	PCDH15 MKKS ABCA4
6	regulation of rhodopsin mediated signaling pathway	GO:0022400	9.5	PDE6B GUCY2D GUCA1A
7	visual perception	GO:0007601	9.5	RPGR RDH5 RD3 PRPH2 PDE6C PDE6B
8	sensory perception of light stimulus	GO:0050953	9.48	PDE6C PCDH15
9	retinal cone cell development	GO:0046549	9.46	PDE6C GNAT2
10	phototransduction, visible light	GO:0007603	9.43	PDE6C PDE6B ABCA4

Molecular functions related to Cone-Rod Dystrophy 6 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleotide binding	GO:0000166	9.86	PDE6C MKKS GUCY2D GNAT2 CNGB3 CNGA3
2	3',5'-cyclic-GMP phosphodiesterase activity	GO:0047555	9.32	PDE6C PDE6B
3	intracellular cAMP-activated cation channel activity	GO:0005222	9.16	CNGB3 CNGA3
4	intracellular cGMP-activated cation channel activity	GO:0005223	8.96	CNGB3 CNGA3
5	cGMP binding	GO:0030553	8.8	PDE6C CNGB3 CNGA3

Sources

Sources for Cone-Rod Dystrophy 6

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Cone-Rod Dystrophy 6 (CORD6)

Aliases & Classifications for Cone-Rod Dystrophy 6

MalaCards integrated aliases for Cone-Rod Dystrophy 6:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Cone-Rod Dystrophy 6

Related Diseases for Cone-Rod Dystrophy 6

Diseases in the Cone-Rod Dystrophy 2 family:

Diseases related to Cone-Rod Dystrophy 6 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Cone-Rod Dystrophy 6:

Symptoms & Phenotypes for Cone-Rod Dystrophy 6

Human phenotypes related to Cone-Rod Dystrophy 6:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

GenomeRNAi Phenotypes related to Cone-Rod Dystrophy 6 according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 6:

Drugs & Therapeutics for Cone-Rod Dystrophy 6

Drugs for Cone-Rod Dystrophy 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Cone-Rod Dystrophy 6

Genetic tests related to Cone-Rod Dystrophy 6:

Anatomical Context for Cone-Rod Dystrophy 6

MalaCards organs/tissues related to Cone-Rod Dystrophy 6:

Publications for Cone-Rod Dystrophy 6

Articles related to Cone-Rod Dystrophy 6:

Genes for Cone-Rod Dystrophy 6

Genes related to Cone-Rod Dystrophy 6 (10 elite genes):

Variations for Cone-Rod Dystrophy 6

ClinVar genetic disease variations for Cone-Rod Dystrophy 6:

UniProtKB/Swiss-Prot genetic disease variations for Cone-Rod Dystrophy 6:

Expression for Cone-Rod Dystrophy 6

Pathways for Cone-Rod Dystrophy 6

Pathways related to Cone-Rod Dystrophy 6 according to GeneCards Suite gene sharing:

GO Terms for Cone-Rod Dystrophy 6

Cellular components related to Cone-Rod Dystrophy 6 according to GeneCards Suite gene sharing:

Biological processes related to Cone-Rod Dystrophy 6 according to GeneCards Suite gene sharing:

Molecular functions related to Cone-Rod Dystrophy 6 according to GeneCards Suite gene sharing:

Sources for Cone-Rod Dystrophy 6