Achromatopsia 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Achromatopsia 7

MalaCards integrated aliases for Achromatopsia 7:

Name: Achromatopsia 7 ⁵⁷ ¹² ⁷² ²⁹ ⁶ ¹⁵

Achm7 ⁵⁷ ¹² ⁷²

Achromatopsia, Type 7 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

Miscellaneous:
symptoms present from infancy or early childhood
nonprogressive in most patients

HPO:

³¹

achromatopsia 7:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110009

OMIM® ⁵⁷ 616517

MeSH ⁴⁴ D003117

MedGen ⁴¹ C4225297

SNOMED-CT via HPO ⁶⁸ 102450007 13164000 238828009 more

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Summaries for Achromatopsia 7

OMIM® : ⁵⁷ Achromatopsia (ACHM) is an autosomal recessive disorder resulting from lack of cone photoreceptor function. Affected individuals present from birth or early infancy with photophobia, nystagmus, severely reduced visual acuity, and color blindness (summary by Kohl et al., 2015). For a general description and a discussion of genetic heterogeneity of achromatopsia, see ACHM2 (216900). (616517) (Updated 05-Apr-2021)

MalaCards based summary : Achromatopsia 7, also known as achm7, is related to choroidal dystrophy, central areolar, 1 and night blindness, congenital stationary, type 2a. An important gene associated with Achromatopsia 7 is ATF6 (Activating Transcription Factor 6), and among its related pathways/superpathways are Phototransduction and Visual Cycle in Retinal Rods. The drugs Glycerol and carbamide peroxide have been mentioned in the context of this disorder. Affiliated tissues include retina, and related phenotypes are nystagmus and photophobia

Disease Ontology : ¹² An achromatopsia that has material basis in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23.

UniProtKB/Swiss-Prot : ⁷² Achromatopsia 7: A form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus.

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Related Diseases for Achromatopsia 7

Diseases in the Achromatopsia family:

Achromatopsia 2	Achromatopsia 3
Achromatopsia 4	Achromatopsia 7

Diseases related to Achromatopsia 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)

#	Related Disease	Score	Top Affiliating Genes
1	choroidal dystrophy, central areolar, 1	9.9	PDE6H PDE6C
2	night blindness, congenital stationary, type 2a	9.9	PDE6H GNAT2
3	retinitis pigmentosa 44	9.8	CNGB3 CNGA3
4	choroid disease	9.8	CNGB3 CNGA3
5	scotoma	9.8	CNGB3 CNGA3
6	retinitis pigmentosa 26	9.8	CNGB3 CNGA3
7	congenital nystagmus	9.7	CNGB3 CNGA3
8	cycloplegia	9.7	PDE6H PDE6C GNAT2
9	choroideremia	9.7	CNGB3 CNGA3
10	leber congenital amaurosis 1	9.6	CNGB3 CNGA3
11	cone-rod dystrophy 8	9.5	GNAT2 CNGB3 CNGA3
12	prolonged electroretinal response suppression	9.5	GNAT2 CNGB3 CNGA3
13	enhanced s-cone syndrome	9.5	GNAT2 CNGB3 CNGA3
14	vitelliform macular dystrophy	9.5	CNGB3 CNGA3
15	retinoschisis 1, x-linked, juvenile	9.5	GNAT2 CNGB3 CNGA3
16	eye degenerative disease	9.5	GNAT2 CNGB3 CNGA3
17	stargardt disease	9.5	GNAT2 CNGB3 CNGA3
18	usher syndrome	9.4	GNAT2 CNGB3 CNGA3
19	macular degeneration, age-related, 1	9.4	GNAT2 CNGB3 CNGA3
20	eye disease	9.2	GNAT2 CNGB3 CNGA3
21	oligocone trichromacy	9.2	PDE6C GNAT2 CNGB3 CNGA3
22	colorblindness, partial, protan series	9.2	PDE6C GNAT2 CNGB3 CNGA3
23	jalili syndrome	9.2	PDE6C GNAT2 CNGB3 CNGA3
24	pathologic nystagmus	9.2	PDE6C GNAT2 CNGB3 CNGA3
25	congenital stationary night blindness	9.2	PDE6C GNAT2 CNGB3 CNGA3
26	red-green color blindness	9.0	PDE6H PDE6C GNAT2 CNGB3 CNGA3
27	color blindness	9.0	PDE6H PDE6C GNAT2 CNGB3 CNGA3
28	achromatopsia 2	9.0	PDE6H PDE6C GNAT2 CNGB3 CNGA3
29	tritanopia	9.0	PDE6H PDE6C GNAT2 CNGB3 CNGA3
30	achromatopsia 3	9.0	PDE6H PDE6C GNAT2 CNGB3 CNGA3
31	blue cone monochromacy	9.0	PDE6H PDE6C GNAT2 CNGB3 CNGA3
32	cone-rod dystrophy 6	9.0	PDE6H PDE6C GNAT2 CNGB3 CNGA3
33	cone dystrophy	9.0	PDE6H PDE6C GNAT2 CNGB3 CNGA3
34	leber plus disease	9.0	PDE6H PDE6C GNAT2 CNGB3 CNGA3
35	achromatopsia	8.8	PDE6H PDE6C GNAT2 CNGB3 CNGA3 ATF6
36	achromatopsia 4	8.8	PDE6H PDE6C GNAT2 CNGB3 CNGA3 ATF6
37	fundus dystrophy	8.7	PDE6H PDE6C GNAT2 CNGB3 CNGA3 ATF6
38	cone-rod dystrophy 2	8.7	PDE6H PDE6C GNAT2 CNGB3 CNGA3 ATF6
39	retinitis pigmentosa	8.7	PDE6H PDE6C GNAT2 CNGB3 CNGA3 ATF6

Graphical network of the top 20 diseases related to Achromatopsia 7:

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Symptoms & Phenotypes for Achromatopsia 7

Human phenotypes related to Achromatopsia 7:

³¹ (show all 8)

#	Description	HPO Frequency	HPO Source Accession
1	nystagmus ³¹	very rare (1%)	HP:0000639
2	photophobia ³¹	very rare (1%)	HP:0000613
3	reduced visual acuity ³¹	very rare (1%)	HP:0007663
4	hypoplasia of the fovea ³¹	very rare (1%)	HP:0007750
5	macular atrophy ³¹	very rare (1%)	HP:0007401
6	central scotoma ³¹	very rare (1%)	HP:0000603
7	achromatopsia ³¹	very rare (1%)	HP:0011516
8	absent foveal reflex ³¹		HP:0030825

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Head And Neck Eyes:
nystagmus
central scotoma
decreased visual acuity
severe photophobia
absence of color discrimination
more

Clinical features from OMIM®:

616517 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Achromatopsia 7:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	vision/eye	MP:0005391	9.02	CNGA3 CNGB3 GNAT2 PDE6C PDE6H

Sources

Drugs & Therapeutics for Achromatopsia 7

Drugs for Achromatopsia 7 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Glycerol

Approved, Investigational

Early Phase 1

56-81-5

753

Synonyms:

(2,5-Dihydroxyphenyl)-acetate

(2,5-Dihydroxyphenyl)-acetic acid

(2E)-2-Butenedioate

(2E)-2-Butenedioic acid

(2E)-But-2-enedioate

(2E)-But-2-enedioic acid

(e)-2-Butenedioate

(e)-2-Butenedioic acid

1,2,3-propanetriol

1,2,3-Propanetriol

1,2,3-trihydroxypropane

1,2,3-Trihydroxypropane

2-(3,6-DIHYDROXYPHENYL)acetate

2-(3,6-DIHYDROXYPHENYL)acetIC ACID

2-(e)-Butenedioate

2-(e)-Butenedioic acid

2,5-Dihydroxy-alpha-toluate

2,5-Dihydroxy-alpha-toluic acid

2,5-Dihydroxy-a-toluate

2,5-Dihydroxy-a-toluic acid

2,5-Dihydroxy-benzeneacetate

2,5-Dihydroxy-benzeneacetic acid

2,5-Dihydroxyphenylacetate

2,5-Dihydroxyphenylacetic acid

Acid, homogentisic

Alcapton

Allomaleate

Allomaleic acid

alpha-delta-Glucopyranuronic acid

alpha-delta-Glucuronic acid

alpha-D-Glucopyranuronic acid

alpha-D-Glucuronic acid

Ammonium fumarate

Boletate

Boletic acid

Bulbold

Concentrated glycerin

Cristal

D-(+)-Glucuronate

D-(+)-Glucuronic acid

delta-(+)-Glucuronate

delta-(+)-Glucuronic acid

delta-Glucuronate

D-Glucuronate

e 422

e297

Emery 916

FC 33

Fumarate

Fumarsaeure

Furamag

GCU

GlcAa

GlcAalpha

Glucosiduronate

Glucosiduronic acid

Glucuronate

Glucuronic acid

Glyceol opthalgan

Glycerin

Glycerin, anhydrous

Glycerin, concentrated

Glycerin,anhydrous

Glycerine

glycérine

Glycerinum

Glyceritol

Glycerol

glycérol

Glycerolum

Glycyl alcohol

Glyrol

Glysanin

Glyzerin

Gro

Homogentisate

Homogentisate acid

Homogentisinate

Homogentisinic acid

IFP

Incorporation factor

Lichenate

Lichenic acid

Mackstat H 66

Mafusol

Magnesium fumarate

Melanic acid

Monoctanoin component D

Oelsuess

Ölsüß

Osmoglyn

Pricerine 9091

Propanetriol

RG-S

Sodium fumarate

trans-1,2-Ethylenedicarboxylate

trans-1,2-Ethylenedicarboxylic acid

trans-2-Butenedioate

trans-2-Butenedioic acid

trans-But-2-enedioate

trans-But-2-enedioic acid

trans-Butenedioate

trans-Butenedioic acid

Trihydroxypropane

Tryhydroxypropane

2

carbamide peroxide

Approved

Early Phase 1

124-43-6

3

Protective Agents

Early Phase 1

4

4-phenylbutyric acid

Early Phase 1

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Evaluation of Glycerol Phenylbutyrate (PBA) Use in Endoplasmic Reticulum Stress Reduction in ATF6-/- Patients	Not yet recruiting	NCT04041232	Early Phase 1	PBA

Search NIH Clinical Center for Achromatopsia 7

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Genetic Tests for Achromatopsia 7

Genetic tests related to Achromatopsia 7:

#	Genetic test	Affiliating Genes
1	Achromatopsia 7 ²⁹	ATF6

Sources

Anatomical Context for Achromatopsia 7

MalaCards organs/tissues related to Achromatopsia 7:

⁴⁰

Retina

Sources

Publications for Achromatopsia 7

Articles related to Achromatopsia 7:

#	Title	Authors	PMID	Year
1	Mutation of ATF6 causes autosomal recessive achromatopsia. ⁶ ⁵⁷	Ansar M...Leal SM	26063662	2015
2	Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. ⁶ ⁵⁷	Kohl S...Lin JH	26029869	2015

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Genes for Achromatopsia 7

Genes related to Achromatopsia 7 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ATF6	Activating Transcription Factor 6	Protein Coding	1347.99	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	26063662
2	PDE6H	Phosphodiesterase 6H	Protein Coding	7.35	DISEASES inferred ¹⁵
3	PDE6C	Phosphodiesterase 6C	Protein Coding	7.15	DISEASES inferred ¹⁵
4	GNAT2	G Protein Subunit Alpha Transducin 2	Protein Coding	7.01	DISEASES inferred ¹⁵
5	CNGA3	Cyclic Nucleotide Gated Channel Subunit Alpha 3	Protein Coding	6.8	DISEASES inferred ¹⁵
6	CNGB3	Cyclic Nucleotide Gated Channel Subunit Beta 3	Protein Coding	6.79	DISEASES inferred ¹⁵

Sources

Variations for Achromatopsia 7

ClinVar genetic disease variations for Achromatopsia 7:

⁶ (show all 21)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ATF6	NM_007348.4(ATF6):c.355dup (p.Glu119Glyfs)	Duplication	Pathogenic	208171	rs869320751	GRCh37: 1:161761196-161761197 GRCh38: 1:161791406-161791407
2	ATF6	NM_007348.3:c.355_356dupG	Duplication	Pathogenic	217302		GRCh37: GRCh38:
3	ATF6	NM_007348.4(ATF6):c.709C>T (p.Gln237Ter)	SNV	Pathogenic	801569	rs1571143590	GRCh37: 1:161771862-161771862 GRCh38: 1:161802072-161802072
4	ATF6	NM_007348.4(ATF6):c.353del (p.Pro118fs)	Deletion	Pathogenic	209097	rs797045171	GRCh37: 1:161753884-161753884 GRCh38: 1:161784094-161784094
5	ATF6	NM_007348.4(ATF6):c.1187+5G>C	SNV	Pathogenic	209098	rs761129859	GRCh37: 1:161790956-161790956 GRCh38: 1:161821166-161821166
6	ATF6	NM_007348.4(ATF6):c.82+5G>T	SNV	Pathogenic	209096	rs797045170	GRCh37: 1:161736237-161736237 GRCh38: 1:161766447-161766447
7	ATF6	NM_007348.4(ATF6):c.970C>T (p.Arg324Cys)	SNV	Pathogenic	208172	rs761357250	GRCh37: 1:161789483-161789483 GRCh38: 1:161819693-161819693
8	ATF6	NM_007348.4(ATF6):c.1699T>A (p.Tyr567Asn)	SNV	Pathogenic	208176	rs796065053	GRCh37: 1:161833082-161833082 GRCh38: 1:161863292-161863292
9	ATF6	NM_007348.4(ATF6):c.1533+1G>C	SNV	Pathogenic	209099	rs797045172	GRCh37: 1:161823114-161823114 GRCh38: 1:161853324-161853324
10	ATF6	NM_007348.4(ATF6):c.797dup (p.Pro266_Asn267insTer)	Duplication	Pathogenic	209100	rs797045173	GRCh37: 1:161771947-161771948 GRCh38: 1:161802157-161802158
11	ATF6	NM_007348.4(ATF6):c.1110dup (p.Val371fs)	Duplication	Pathogenic	209101	rs797045174	GRCh37: 1:161790871-161790872 GRCh38: 1:161821081-161821082
12	ATF6	NM_007348.4(ATF6):c.3G>T (p.Met1Ile)	SNV	Pathogenic	977965		GRCh37: 1:161736153-161736153 GRCh38: 1:161766363-161766363
13	ATF6	NM_007348.4(ATF6):c.854A>G (p.Lys285Arg)	SNV	Likely pathogenic	977966		GRCh37: 1:161772007-161772007 GRCh38: 1:161802217-161802217
14	ATF6	NM_007348.4(ATF6):c.950G>A (p.Arg317Gln)	SNV	Likely pathogenic	977964		GRCh37: 1:161789463-161789463 GRCh38: 1:161819673-161819673
15	ATF6	NM_007348.4(ATF6):c.1784del (p.Leu595fs)	Deletion	Likely pathogenic	592152	rs1558022158	GRCh37: 1:161882149-161882149 GRCh38: 1:161912359-161912359
16	ATF6	NM_007348.4(ATF6):c.511del (p.Ile171fs)	Deletion	Likely pathogenic	800907	rs1571134523	GRCh37: 1:161761934-161761934 GRCh38: 1:161792144-161792144
17	ATF6	NM_007348.4(ATF6):c.1190_1191insTTTTT (p.Met397fs)	Insertion	Uncertain significance	801570	rs1571184566	GRCh37: 1:161816240-161816241 GRCh38: 1:161846450-161846451
18	ATF6	NM_007348.4(ATF6):c.677C>A (p.Ala226Glu)	SNV	Uncertain significance	1031735		GRCh37: 1:161762106-161762106 GRCh38: 1:161792316-161792316
19	ATF6	NM_007348.4(ATF6):c.1191G>T (p.Met397Ile)	SNV	Likely benign	801571	rs1285628089	GRCh37: 1:161816242-161816242 GRCh38: 1:161846452-161846452
20	ATF6	NM_007348.4(ATF6):c.1434-3T>A	SNV	Benign	801572	rs2257107	GRCh37: 1:161823011-161823011 GRCh38: 1:161853221-161853221
21	ATF6	NM_007348.4(ATF6):c.199A>G (p.Met67Val)	SNV	Benign	801568	rs1058405	GRCh37: 1:161751741-161751741 GRCh38: 1:161781951-161781951

UniProtKB/Swiss-Prot genetic disease variations for Achromatopsia 7:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	ATF6	p.Arg324Cys	VAR_075681	rs761357250
2	ATF6	p.Tyr567Asn	VAR_075682	rs796065053

Sources

Expression for Achromatopsia 7

Search GEO for disease gene expression data for Achromatopsia 7.

Sources

Pathways for Achromatopsia 7

Pathways related to Achromatopsia 7 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	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	11.22	PDE6H PDE6C GNAT2 CNGB3 CNGA3
2	Visual Cycle in Retinal Rods ⁶³	11.1	GNAT2 CNGB3 CNGA3

Sources

GO Terms for Achromatopsia 7

Cellular components related to Achromatopsia 7 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	photoreceptor outer segment	GO:0001750	9.16	GNAT2 CNGB3
2	photoreceptor outer segment membrane	GO:0042622	8.96	PDE6H GNAT2
3	transmembrane transporter complex	GO:1902495	8.62	CNGB3 CNGA3

Biological processes related to Achromatopsia 7 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	signal transduction	GO:0007165	9.65	PDE6C GNAT2 CNGB3 CNGA3 ATF6
2	response to stimulus	GO:0050896	9.35	PDE6H PDE6C GNAT2 CNGB3 CNGA3
3	cation transport	GO:0006812	9.32	CNGB3 CNGA3
4	retinal cone cell development	GO:0046549	9.16	PDE6C GNAT2
5	visual perception	GO:0007601	9.1	PDE6H PDE6C GNAT2 CNGB3 CNGA3 ATF6

Molecular functions related to Achromatopsia 7 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleotide binding	GO:0000166	9.67	PDE6C GNAT2 CNGB3 CNGA3
2	3',5'-cyclic-nucleotide phosphodiesterase activity	GO:0004114	9.32	PDE6H PDE6C
3	3',5'-cyclic-GMP phosphodiesterase activity	GO:0047555	9.26	PDE6H PDE6C
4	intracellular cAMP-activated cation channel activity	GO:0005222	9.16	CNGB3 CNGA3
5	intracellular cGMP-activated cation channel activity	GO:0005223	8.96	CNGB3 CNGA3
6	cGMP binding	GO:0030553	8.92	PDE6H PDE6C CNGB3 CNGA3

Sources

Sources for Achromatopsia 7

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 05-Apr-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

Achromatopsia 7 (ACHM7)

Aliases & Classifications for Achromatopsia 7

MalaCards integrated aliases for Achromatopsia 7:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Achromatopsia 7

Related Diseases for Achromatopsia 7

Diseases in the Achromatopsia family:

Diseases related to Achromatopsia 7 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Achromatopsia 7:

Symptoms & Phenotypes for Achromatopsia 7

Human phenotypes related to Achromatopsia 7:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Achromatopsia 7:

Drugs & Therapeutics for Achromatopsia 7

Drugs for Achromatopsia 7 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Achromatopsia 7

Genetic tests related to Achromatopsia 7:

Anatomical Context for Achromatopsia 7

MalaCards organs/tissues related to Achromatopsia 7:

Publications for Achromatopsia 7

Articles related to Achromatopsia 7:

Genes for Achromatopsia 7

Genes related to Achromatopsia 7 (1 elite genes):

Variations for Achromatopsia 7

ClinVar genetic disease variations for Achromatopsia 7:

UniProtKB/Swiss-Prot genetic disease variations for Achromatopsia 7:

Expression for Achromatopsia 7

Pathways for Achromatopsia 7

Pathways related to Achromatopsia 7 according to GeneCards Suite gene sharing:

GO Terms for Achromatopsia 7

Cellular components related to Achromatopsia 7 according to GeneCards Suite gene sharing:

Biological processes related to Achromatopsia 7 according to GeneCards Suite gene sharing:

Molecular functions related to Achromatopsia 7 according to GeneCards Suite gene sharing:

Sources for Achromatopsia 7