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

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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 ⁵³ ⁷⁵ ²⁹ ⁶

Retinal Cone Dystrophy 2 ⁵⁷ ¹² ⁵³ ⁷³

Cord6 ⁵⁷ ¹² ⁷⁵ ⁵⁵

Rcd2 ⁵⁷ ¹² ⁵³

Progressive Cone Degeneration ⁵³ ⁷³

Progressive Cone Dystrophy ⁵⁹ ⁵⁵

Cone Dystrophy ⁵⁹ ⁷³

Retinal Cone Dystrophy 2; Rcd2 ⁵⁷

Dystrophy, Cone-Rod, Type 6 ⁴⁰

Cone Dystrophy Progressive ⁵³

Retinitis Pigmentosa 6 ⁷³

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant
autosomal recessive (in 1 family)

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

HPO:

³²

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

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

Orphanet: ⁵⁹

Rare eye diseases

External Ids:

OMIM ⁵⁷ 601777

Disease Ontology ¹² DOID:0111011

Orphanet ⁵⁹ ORPHA1871

UMLS via Orphanet ⁷⁴ C0271092

ICD10 via Orphanet ³⁴ H35.5

MedGen ⁴² C1866293

MeSH ⁴⁴ D058499

SNOMED-CT via HPO ⁶⁹ 263681008 246635007 397540003 more

UMLS ⁷³ C1839368 C1866293 C3665342 more

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Summaries for Cone-Rod Dystrophy 6

UniProtKB/Swiss-Prot : ⁷⁵ 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 and cone-rod dystrophy 2. An important gene associated with Cone-Rod Dystrophy 6 is GUCY2D (Guanylate Cyclase 2D, Retinal), and among its related pathways/superpathways are CREB Pathway and Metabolism of fat-soluble vitamins. The drugs Vancomycin and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are visual impairment and abnormal electroretinogram

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

Description from OMIM: 601777

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Related Diseases for Cone-Rod Dystrophy 6

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

(show all 33)

#	Related Disease	Score	Top Affiliating Genes
1	cone dystrophy	28.7	CNGB3 GUCA1A PDE6C RPGR
2	cone-rod dystrophy 2	28.2	CNGB3 GNAT2 GUCA1A GUCY2D RPGR
3	achromatopsia	27.3	CNGA3 CNGB3 GNAT2 PDE6C RPGR
4	fundus dystrophy	25.6	CNGA3 CNGB3 GNAT2 GUCA1A GUCY2D RDH5
5	retinal cone dystrophy 3b	12.5
6	cone-rod dystrophy, x-linked, 2	11.1
7	leber congenital amaurosis 1	10.4	GUCA1A GUCY2D
8	eye degenerative disease	10.4	GUCA1A GUCY2D
9	choroidal dystrophy, central areolar, 1	10.3	GUCA1A GUCY2D
10	hereditary choroidal atrophy	10.2	GUCA1A GUCY2D
11	stargardt disease 1	10.2	CNGB3 GNAT2
12	partial central choroid dystrophy	10.2	GUCA1A GUCY2D
13	yemenite deaf-blind hypopigmentation syndrome	10.1	GUCY2D RPGR
14	choroid disease	10.1	CNGB3 RPGR
15	pathologic nystagmus	10.1	CNGA3 GNAT2
16	achromatopsia 2	10.0	CNGA3 CNGB3
17	tritanopia	10.0	CNGB3 GUCY2D
18	retinitis	9.9
19	retinal degeneration	9.8	GUCA1A GUCY2D RPGR
20	blue cone monochromacy	9.7	CNGA3 CNGB3
21	stargardt disease	9.7	CNGB3 GNAT2 RPGR
22	retinoschisis 1, x-linked, juvenile	9.7	CNGB3 RPGR
23	achromatopsia 4	9.6	CNGA3 CNGB3 GNAT2
24	retinitis pigmentosa 44	9.4	CNGA3 CNGB3 RPGR
25	achromatopsia 3	9.2	CNGA3 CNGB3 GNAT2 GUCY2D
26	prolonged electroretinal response suppression	9.2	GUCY2D RDH5
27	retinitis pigmentosa 26	9.1	CNGA3 CNGB3 GUCY2D RPGR
28	oligocone trichromacy	9.1	CNGA3 CNGB3 GNAT2 PDE6C
29	jalili syndrome	9.0	CNGA3 CNGB3 GNAT2 PDE6C
30	color blindness	9.0	CNGA3 CNGB3 GNAT2 PDE6C
31	leber congenital amaurosis	8.5	CNGA3 CNGB3 GUCA1A GUCY2D RPGR
32	retinitis pigmentosa	8.1	CNGA3 GUCA1A GUCY2D RDH5 RPGR
33	retinal disease	7.6	CNGA3 CNGB3 GUCA1A GUCY2D RDH5 RPGR

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

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Symptoms & Phenotypes for Cone-Rod Dystrophy 6

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Clinical features from OMIM:

601777

Human phenotypes related to Cone-Rod Dystrophy 6:

⁵⁹ ³² (show all 8)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	visual impairment ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000505
2	abnormal electroretinogram ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000512
3	abnormality of color vision ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000551
4	photophobia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000613
5	abnormality of retinal pigmentation ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0007703
6	cone/cone-rod dystrophy ³²			HP:0000548
7	reduced visual acuity ³²			HP:0007663
8	peripheral visual field loss ³²			HP:0007994

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

²⁶ (show all 17)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-100	9.62	CNGA3 GUCA1A RPGR
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	9.62	CNGA3
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-115	9.62	CNGA3
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-116	9.62	RPGR
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-149	9.62	RPGR
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-169	9.62	RPGR
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-177	9.62	GUCA1A
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-207	9.62	GUCA1A RPGR
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-29	9.62	CNGA3
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	9.62	GUCA1A
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-45	9.62	RPGR
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-49	9.62	RPGR
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-50	9.62	RPGR
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-57	9.62	GUCA1A
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-73	9.62	RPGR
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-8	9.62	GUCA1A
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-80	9.62	GUCA1A

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 6:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.5	CNGA3 CNGB3 GNAT2 GUCA1A GUCY2D PDE6C
2	vision/eye	MP:0005391	9.23	CNGA3 CNGB3 GNAT2 GUCA1A GUCY2D PDE6C

Sources

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

Vancomycin

Approved

1404-90-6

441141 14969

Synonyms:

(1S,2R,18R,22S,25R,28R,40S)-22-(2-amino-2-Oxoethyl)-48-[2-O-(3-amino-2,3,6-trideoxy-3-methyl-a-L-lyxo-hexopyranosyl)-b-D-glucopyranosyloxy]-5,15-dichloro-2,18,32,35,37-pentahydroxy-19-[(N-methyl-D-leucyl)amino]-20,23,26,42,44-pentaoxo-7,13-dioxa-21,24,27,41,43-pentaazaoctacyclo[26.14.2.2(3,6).2(14,17).1(8,12).1(29,33).0(10,25).0(34,39)]pentaconta-3,5,8(48),9,11,14,16,29(45),30,32,34,36,38,46,49-pentadecaene-40-carboxylate

(1S,2R,18R,22S,25R,28R,40S)-22-(2-amino-2-Oxoethyl)-48-[2-O-(3-amino-2,3,6-trideoxy-3-methyl-a-L-lyxo-hexopyranosyl)-b-D-glucopyranosyloxy]-5,15-dichloro-2,18,32,35,37-pentahydroxy-19-[(N-methyl-D-leucyl)amino]-20,23,26,42,44-pentaoxo-7,13-dioxa-21,24,27,41,43-pentaazaoctacyclo[26.14.2.2(3,6).2(14,17).1(8,12).1(29,33).0(10,25).0(34,39)]pentaconta-3,5,8(48),9,11,14,16,29(45),30,32,34,36,38,46,49-pentadecaene-40-carboxylic acid

(1S,2R,18R,22S,25R,28R,40S)-22-(2-amino-2-Oxoethyl)-48-[2-O-(3-amino-2,3,6-trideoxy-3-methyl-alpha-L-lyxo-hexopyranosyl)-beta-D-glucopyranosyloxy]-5,15-dichloro-2,18,32,35,37-pentahydroxy-19-[(N-methyl-D-leucyl)amino]-20,23,26,42,44-pentaoxo-7,13-dioxa-21,24,27,41,43-pentaazaoctacyclo[26.14.2.2(3,6).2(14,17).1(8,12).1(29,33).0(10,25).0(34,39)]pentaconta-3,5,8(48),9,11,14,16,29(45),30,32,34,36,38,46,49-pentadecaene-40-carboxylate

(1S,2R,18R,22S,25R,28R,40S)-22-(2-amino-2-Oxoethyl)-48-[2-O-(3-amino-2,3,6-trideoxy-3-methyl-alpha-L-lyxo-hexopyranosyl)-beta-D-glucopyranosyloxy]-5,15-dichloro-2,18,32,35,37-pentahydroxy-19-[(N-methyl-D-leucyl)amino]-20,23,26,42,44-pentaoxo-7,13-dioxa-21,24,27,41,43-pentaazaoctacyclo[26.14.2.2(3,6).2(14,17).1(8,12).1(29,33).0(10,25).0(34,39)]pentaconta-3,5,8(48),9,11,14,16,29(45),30,32,34,36,38,46,49-pentadecaene-40-carboxylic acid

(1S,2R,18R,22S,25R,28R,40S)-22-(2-amino-2-Oxoethyl)-48-[2-O-(3-amino-2,3,6-trideoxy-3-methyl-α-L-lyxo-hexopyranosyl)-β-D-glucopyranosyloxy]-5,15-dichloro-2,18,32,35,37-pentahydroxy-19-[(N-methyl-D-leucyl)amino]-20,23,26,42,44-pentaoxo-7,13-dioxa-21,24,27,41,43-pentaazaoctacyclo[26.14.2.2(3,6).2(14,17).1(8,12).1(29,33).0(10,25).0(34,39)]pentaconta-3,5,8(48),9,11,14,16,29(45),30,32,34,36,38,46,49-pentadecaene-40-carboxylate

(1S,2R,18R,22S,25R,28R,40S)-22-(2-amino-2-Oxoethyl)-48-[2-O-(3-amino-2,3,6-trideoxy-3-methyl-α-L-lyxo-hexopyranosyl)-β-D-glucopyranosyloxy]-5,15-dichloro-2,18,32,35,37-pentahydroxy-19-[(N-methyl-D-leucyl)amino]-20,23,26,42,44-pentaoxo-7,13-dioxa-21,24,27,41,43-pentaazaoctacyclo[26.14.2.2(3,6).2(14,17).1(8,12).1(29,33).0(10,25).0(34,39)]pentaconta-3,5,8(48),9,11,14,16,29(45),30,32,34,36,38,46,49-pentadecaene-40-carboxylic acid

(1S,2R,18R,22S,25R,28R,40S)-22-(2-amino-2-oxoethyl)-48-[2-O-(3-amino-2,3,6-trideoxy-3-methyl-α-L-lyxo-hexopyranosyl)-β-D-glucopyranosyloxy]-5,15-dichloro-2,18,32,35,37-pentahydroxy-19-[(N-methyl-D-leucyl)amino]-20,23,26,42,44-pentaoxo-7,13-dioxa-21,24,27,41,43-pentaazaoctacyclo[26.14.2.23,6.214,17.18,12.129,33.010,25.034,39]pentaconta-3,5,8(48),9,11,14,16,29(45),30,32,34,36,38,46,49-pentadecaene-40-carboxylic acid

(2.2Sp,3.5Sa,2.6Sp)-O(4.2),C(3.4):C(5.4),O(4.6):c(3.5),C(2.7)-tricyclo[N-methyl-D-leucyl-3-chloro-(R)-beta-hydroxy-D-tyrosyl-L-asparaginyl-D-2-(4-{[2-O-(3-amino-2,3,6-trideoxy-3-C-methyl-alpha-L-lyxo-hexopyranosyl)-beta-D-glucopyranosyl]oxy}phenyl)glycyl-D-2-(4-hydroxyphenyl)glycyl-3-chloro-(R)-beta-hydroxy-L-tyrosyl-L-2-(3,5-dihydroxyphenyl)glycine]

(2.2Sp,3.5Sa,2.6Sp)-O(4.2),C(3.4):C(5.4),O(4.6):c(3.5),C(2.7)-tricyclo[N-methyl-D-leucyl-3-chloro-(R)-b-hydroxy-D-tyrosyl-L-asparaginyl-D-2-(4-{[2-O-(3-amino-2,3,6-trideoxy-3-C-methyl-a-L-lyxo-hexopyranosyl)-b-D-glucopyranosyl]oxy}phenyl)glycyl-D-2-(4-hydroxyphenyl)glycyl-3-chloro-(R)-b-hydroxy-L-tyrosyl-L-2-(3,5-dihydroxyphenyl)glycine]

(2.2Sp,3.5Sa,2.6Sp)-O(4.2),C(3.4):C(5.4),O(4.6):c(3.5),C(2.7)-tricyclo[N-methyl-D-leucyl-3-chloro-(R)-β-hydroxy-D-tyrosyl-L-asparaginyl-D-2-(4-{[2-O-(3-amino-2,3,6-trideoxy-3-C-methyl-α-L-lyxo-hexopyranosyl)-β-D-glucopyranosyl]oxy}phenyl)glycyl-D-2-(4-hydroxyphenyl)glycyl-3-chloro-(R)-β-hydroxy-L-tyrosyl-L-2-(3,5-dihydroxyphenyl)glycine]

(2.2Sp,3.5Sa,2.6Sp)-O4.2,C3.4:C5.4,O4.6:C3.5,C2.7-tricyclo[N-methyl-D-leucyl-3-chloro-(R)-β-hydroxy-D-tyrosyl-L-asparaginyl-D-2-(4-{[2-O-(3-amino-2,3,6-trideoxy-3-C-methyl-α-L-lyxo-hexopyranosyl)-β-D-glucopyranosyl]oxy}phenyl)glycyl-D-2-(4-hydroxyphenyl)glycyl-3-chloro-(R)-β-hydroxy-L-tyrosyl-L-2-(3,5-dihydroxyphenyl)glycine]

1404-90-6

1404-93-9 (hydrochloride)

64685-75-2 (sulfate)

Abbott brand OF vancomycin hydrochloride

AB-vancomycin

AC1L24VU

AC1L9AMI

AC1Q29OH

Azupharma brand OF vancomycin hydrochloride

BIDD:GT0353

C06689

C66H75Cl2N9O24

Cell pharm brand OF vancomycin hydrochloride

CHEBI:28001

CHEMBL262777

Chiesi brand OF vancomycin hydrochloride

CID14969

CID441141

CID5311496

CID6426898

CID6917992

combino Brand OF vancomycin hydrochloride

Curasan brand OF vancomycin hydrochloride

D00212

Dakota brand OF vancomycin hydrochloride

DB00512

Diatracin

Dista brand OF vancomycin hydrochloride

EINECS 215-772-6

Eli lilly brand OF vancomycin hydrochloride

Hexal brand OF vancomycin hydrochloride

HSDB 3262

Hydrochloride, vancomycin

Lilly brand OF vancomycin hydrochloride

LMPK14000004

Lopac0_001267

LS-161387

MIP brand OF vancomycin hydrochloride

MolPort-001-794-649

NCGC00162383-02

nchembio.350-comp1

Norman brand OF vancomycin hydrochloride

Prestwick0_000497

Prestwick1_000497

Prestwick2_000497

Ratiopharm brand OF vancomycin hydrochloride

SPBio_002314

Sulfate, vancomycin

UNII-6Q205EH1VU

VAN

vanco Azupharma

vanco-Cell

Vancocin

Vancocin (TN)

Vancocin HCL

Vancocine

Vancomicin

Vancomicina

Vancomicina [INN-Spanish]

Vancomicina abbott

Vancomicina chiesi

Vancomicina combino phar

Vancomicina norman

VANCOMYCIN

Vancomycin (USP)

Vancomycin [USAN:INN:BAN]

Vancomycin HCL

Vancomycin hexal

Vancomycin hydrochloride

Vancomycin lilly

Vancomycin phosphate (1:2)

Vancomycin phosphate (1:2), decahydrate

Vancomycin sulfate

Vancomycine

Vancomycine [INN-French]

Vancomycine dakota

Vancomycin-ratiopharm

Vancomycinum

Vancomycinum [INN-Latin]

vanco-Saar

2

Anti-Bacterial Agents

3

Anti-Infective Agents

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	The Epidemiology of Infection With Vancomycin-Resistant Enterococci	Completed	NCT00018434

Search NIH Clinical Center for Cone-Rod Dystrophy 6

Sources

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

Sources

Anatomical Context for Cone-Rod Dystrophy 6

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

⁴¹

Eye

Sources

Publications for Cone-Rod Dystrophy 6

Articles related to Cone-Rod Dystrophy 6:

#	Title	Authors	Year
1	Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration. ( 18487367 )	Kitiratschky V.B....Kohl S.	2008
2	New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration. ( 18332321 )	Small K.W....Heckenlively J.R.	2008
3	Clinical study of a large family with autosomal dominant progressive cone degeneration. ( 8554074 )	Small K.W....Gehrs K.	1996
4	Acuity-luminance function in achromatopsia and in progressive cone degeneration: factors related to individual differences in tolerance to bright light. ( 4538488 )	SLOAN L.L....Feoick K.	1972

Sources

Genes for Cone-Rod Dystrophy 6

Genes related to Cone-Rod Dystrophy 6 (5 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	1361.77	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Gene name Summaries Variants (show sections)	9097965 9618177 10647719 (more) 12552567 8554074 10951519 10676808 20517349 20301475 10647719 11115851 11952088 10529237
2	GNAT2	G Protein Subunit Alpha Transducin 2	Protein Coding	350	Causative germline mutation ⁵⁹
3	GUCA1A	Guanylate Cyclase Activator 1A	Protein Coding	350	Causative germline mutation ⁵⁹
4	CNGB3	Cyclic Nucleotide Gated Channel Beta 3	Protein Coding	350	Causative germline mutation ⁵⁹
5	PDE6C	Phosphodiesterase 6C	Protein Coding	350	Causative germline mutation ⁵⁹
6	CNGA3	Cyclic Nucleotide Gated Channel Alpha 3	Protein Coding	21.28	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	20079539 11536077 12205108
7	RDH5	Retinol Dehydrogenase 5	Protein Coding	20.87	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	11448328 12906118 11053295
8	RPGR	Retinitis Pigmentosa GTPase Regulator	Protein Coding	19.93	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	8123616

Sources

Variations for Cone-Rod Dystrophy 6

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

⁷⁵

#	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

ClinVar genetic disease variations for Cone-Rod Dystrophy 6:

⁶

(show all 26)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	GUCY2D	NM_000180.3(GUCY2D): c.2512C> T (p.Arg838Cys)	single nucleotide variant	Pathogenic	rs61750172	GRCh37	Chromosome 17, 7918018: 7918018
2	GUCY2D	NM_000180.3(GUCY2D): c.2512C> T (p.Arg838Cys)	single nucleotide variant	Pathogenic	rs61750172	GRCh38	Chromosome 17, 8014700: 8014700
3	GUCY2D	NM_000180.3(GUCY2D): c.2513G> A (p.Arg838His)	single nucleotide variant	Pathogenic	rs61750173	GRCh37	Chromosome 17, 7918019: 7918019
4	GUCY2D	NM_000180.3(GUCY2D): c.2513G> A (p.Arg838His)	single nucleotide variant	Pathogenic	rs61750173	GRCh38	Chromosome 17, 8014701: 8014701
5	GUCY2D	NM_000180.3(GUCY2D): c.2846T> C (p.Ile949Thr)	single nucleotide variant	Pathogenic	rs267606857	GRCh37	Chromosome 17, 7918722: 7918722
6	GUCY2D	NM_000180.3(GUCY2D): c.2846T> C (p.Ile949Thr)	single nucleotide variant	Pathogenic	rs267606857	GRCh38	Chromosome 17, 8015404: 8015404
7	GUCY2D	NM_000180.3(GUCY2D): c.2302C> T (p.Arg768Trp)	single nucleotide variant	Pathogenic	rs61750168	GRCh37	Chromosome 17, 7917236: 7917236
8	GUCY2D	NM_000180.3(GUCY2D): c.2302C> T (p.Arg768Trp)	single nucleotide variant	Pathogenic	rs61750168	GRCh38	Chromosome 17, 8013918: 8013918
9	GUCY2D	NM_000180.3(GUCY2D): c.2577G> T (p.Pro859=)	single nucleotide variant	Benign	rs112372281	GRCh37	Chromosome 17, 7918177: 7918177
10	GUCY2D	NM_000180.3(GUCY2D): c.2577G> T (p.Pro859=)	single nucleotide variant	Benign	rs112372281	GRCh38	Chromosome 17, 8014859: 8014859
11	GUCY2D	NM_000180.3(GUCY2D): c.3225-7C> T	single nucleotide variant	Benign	rs79887212	GRCh37	Chromosome 17, 7919754: 7919754
12	GUCY2D	NM_000180.3(GUCY2D): c.3225-7C> T	single nucleotide variant	Benign	rs79887212	GRCh38	Chromosome 17, 8016436: 8016436
13	GUCY2D	NM_000180.3(GUCY2D): c.3297G> A (p.Pro1099=)	single nucleotide variant	Benign	rs142351773	GRCh37	Chromosome 17, 7919833: 7919833
14	GUCY2D	NM_000180.3(GUCY2D): c.3297G> A (p.Pro1099=)	single nucleotide variant	Benign	rs142351773	GRCh38	Chromosome 17, 8016515: 8016515
15	GUCY2D	NM_000180.3(GUCY2D): c.1773delC (p.Asn591Lysfs)	deletion	Pathogenic	rs794727952	GRCh37	Chromosome 17, 7915485: 7915485
16	GUCY2D	NM_000180.3(GUCY2D): c.1773delC (p.Asn591Lysfs)	deletion	Pathogenic	rs794727952	GRCh38	Chromosome 17, 8012167: 8012167
17	GUCY2D	NM_000180.3(GUCY2D): c.3044-7G> T	single nucleotide variant	Benign	rs56348143	GRCh38	Chromosome 17, 8015920: 8015920
18	GUCY2D	NM_000180.3(GUCY2D): c.3044-7G> T	single nucleotide variant	Benign	rs56348143	GRCh37	Chromosome 17, 7919238: 7919238
19	GUCY2D	NM_000180.3(GUCY2D): c.696G> T (p.Lys232Asn)	single nucleotide variant	Uncertain significance	rs181800610	GRCh37	Chromosome 17, 7907061: 7907061
20	GUCY2D	NM_000180.3(GUCY2D): c.696G> T (p.Lys232Asn)	single nucleotide variant	Uncertain significance	rs181800610	GRCh38	Chromosome 17, 8003743: 8003743
21	GUCY2D	NM_000180.3(GUCY2D): c.2598G> C (p.Lys866Asn)	single nucleotide variant	Uncertain significance	rs201587670	GRCh37	Chromosome 17, 7918198: 7918198
22	GUCY2D	NM_000180.3(GUCY2D): c.2598G> C (p.Lys866Asn)	single nucleotide variant	Uncertain significance	rs201587670	GRCh38	Chromosome 17, 8014880: 8014880
23	GUCY2D	NM_000180.3(GUCY2D): c.1119G> A (p.Val373=)	single nucleotide variant	Benign	rs56034424	GRCh37	Chromosome 17, 7909773: 7909773
24	GUCY2D	NM_000180.3(GUCY2D): c.1119G> A (p.Val373=)	single nucleotide variant	Benign	rs56034424	GRCh38	Chromosome 17, 8006455: 8006455
25	GUCY2D	NM_000180.3(GUCY2D): c.2563C> T (p.Gln855Ter)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 17, 7918069: 7918069
26	GUCY2D	NM_000180.3(GUCY2D): c.2563C> T (p.Gln855Ter)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 17, 8014751: 8014751

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	CREB Pathway ⁶⁴ Show member pathways Activation of PKC through GPCR ⁶⁴ Intracellular Calcium Signaling ⁶⁴ IP3 Pathway ⁶⁴	12.64	CNGA3 CNGB3 GNAT2 GUCY2D
2	Metabolism of fat-soluble vitamins ⁶⁶ Show member pathways Metabolism of vitamin K ⁶⁶ Retinoid metabolism and transport ⁶⁶ The retinoid cycle in cones (daylight vision) ⁶⁶ Visual phototransduction ⁶⁶ Vitamin D (calciferol) metabolism ⁶⁶	11.66	GUCA1A GUCY2D RDH5
3	Visual Cycle in Retinal Rods ⁶⁴	11.41	CNGA3 CNGB3 GNAT2 GUCA1A GUCY2D RDH5
4	Phototransduction ³⁷ Show member pathways Activation of the phototransduction cascade ⁶⁶ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁶ The phototransduction cascade ⁶⁶ Visual signal transduction- Cones ¹ Visual signal transduction- Rods ¹	11.36	CNGA3 CNGB3 GNAT2 GUCA1A GUCY2D PDE6C

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	photoreceptor inner segment	GO:0001917	9.32	GNAT2 GUCA1A
2	photoreceptor disc membrane	GO:0097381	9.26	GUCA1A GUCY2D
3	photoreceptor outer segment membrane	GO:0042622	9.16	CNGA3 GNAT2
4	photoreceptor outer segment	GO:0001750	9.13	CNGB3 GNAT2 RPGR
5	transmembrane transporter complex	GO:1902495	8.62	CNGA3 CNGB3

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

#	Name	GO ID	Score	Top Affiliating Genes
1	signal transduction	GO:0007165	9.73	CNGA3 CNGB3 GNAT2 GUCA1A GUCY2D PDE6C
2	response to stimulus	GO:0050896	9.56	CNGA3 CNGB3 GNAT2 GUCA1A GUCY2D PDE6C
3	cation transport	GO:0006812	9.43	CNGA3 CNGB3
4	cation transmembrane transport	GO:0098655	9.4	CNGA3 CNGB3
5	phototransduction	GO:0007602	9.37	GNAT2 GUCA1A
6	regulation of rhodopsin mediated signaling pathway	GO:0022400	9.32	GUCA1A GUCY2D
7	visual perception	GO:0007601	9.23	CNGA3 CNGB3 GNAT2 GUCA1A GUCY2D PDE6C
8	retinal cone cell development	GO:0046549	9.16	GNAT2 PDE6C

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

#	Name	GO ID	Score	Top Affiliating Genes
1	voltage-gated potassium channel activity	GO:0005249	9.26	CNGA3 CNGB3
2	intracellular cAMP activated cation channel activity	GO:0005222	9.16	CNGA3 CNGB3
3	intracellular cGMP activated cation channel activity	GO:0005223	8.96	CNGA3 CNGB3
4	cGMP binding	GO:0030553	8.8	CNGA3 CNGB3 PDE6C

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 ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

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 NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia