Visual Cortex Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Visual Cortex Disease

MalaCards integrated aliases for Visual Cortex Disease:

Name: Visual Cortex Disease ¹² ¹⁵

Visual Cortex Dysfunction ¹²

Visual Cortex Disorder ⁷⁰

Classifications:

MalaCards categories:
Anatomical: Eye diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the eye and adnexa

Disorders of optic nerve and visual pathways

Other disorders of optic [2nd] nerve and visual pathways

Disorders of visual cortex

External Ids:

Disease Ontology ¹² DOID:5691

ICD9CM ³⁴ 377.7

NCIt ⁵⁰ C35275

SNOMED-CT ⁶⁷ 128329001

ICD10 ³² H47.6

UMLS ⁷⁰ C0234398

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Summaries for Visual Cortex Disease

MalaCards based summary : Visual Cortex Disease, also known as visual cortex dysfunction, is related to spastic ataxia 5 and sengers syndrome. An important gene associated with Visual Cortex Disease is TIMM13 (Translocase Of Inner Mitochondrial Membrane 13), and among its related pathways/superpathways is Mitochondrial protein import. Affiliated tissues include cortex, eye and liver.

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Related Diseases for Visual Cortex Disease

Diseases related to Visual Cortex Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)

#	Related Disease	Score	Top Affiliating Genes
1	spastic ataxia 5	10.3	TIMM9 TIMM10
2	sengers syndrome	10.2	TIMM8A TIMM29 TIMM10B
3	mitochondrial dna maintenance defects	10.1	POLG2 POLG
4	mitochondrial dna depletion syndrome 6	10.1	POLG2 POLG
5	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1	10.1	POLG2 POLG
6	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4	10.1	POLG2 POLG
7	mitochondrial dna depletion syndrome 7	10.1	POLG2 POLG
8	spinocerebellar ataxia 28	10.1	TIMM9 TIMM10
9	acute liver failure	10.1	POLG2 POLG
10	autosomal dominant progressive external ophthalmoplegia	10.1	POLG2 POLG
11	encephalopathy	10.1	PRNP POLG DOCK7
12	mitochondrial metabolism disease	10.0	TIMM8A POLG2 POLG
13	mitochondrial dna depletion syndrome 3	10.0	POLG2 POLG
14	immunodeficiency 38 with basal ganglia calcification	10.0	RNASEH2C RNASEH2B
15	sting-associated vasculopathy with onset in infancy	10.0	RNASEH2C RNASEH2B
16	prolidase deficiency	10.0	RNASEH2C RNASEH2B
17	3-methylglutaconic aciduria, type iii	9.9	TIMM8A TIMM13 POLG2 POLG
18	mitochondrial dna depletion syndrome 4b	9.9	POLG2 POLG
19	dyschromatosis symmetrica hereditaria	9.9	RNASEH2C RNASEH2B
20	leber hereditary optic neuropathy, modifier of	9.9	TIMM8A POLG2 POLG
21	mohr-tranebjaerg syndrome	9.8	TIMM9 TIMM8A TIMM29 TIMM13 TIMM10B TIMM10
22	mitochondrial disorders	9.7	TIMM8A POLG2 POLG
23	dystonia	9.1	TIMM9 TIMM8A TIMM13 TIMM10B TIMM10 RNASEH2C
24	cortical blindness	9.0	TIMM9 TIMM8A TIMM29 TIMM13 TIMM10B TIMM10
25	visual pathway disease	7.3	TMED8 TIMM9 TIMM8A TIMM29 TIMM13 TIMM10B

Graphical network of the top 20 diseases related to Visual Cortex Disease:

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Symptoms & Phenotypes for Visual Cortex Disease

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Drugs & Therapeutics for Visual Cortex Disease

Search Clinical Trials , NIH Clinical Center for Visual Cortex Disease

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Genetic Tests for Visual Cortex Disease

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Anatomical Context for Visual Cortex Disease

MalaCards organs/tissues related to Visual Cortex Disease:

⁴⁰

Cortex, Eye, Liver

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Publications for Visual Cortex Disease

Articles related to Visual Cortex Disease:

#	Title	Authors	PMID	Year
1	Frequency-Specific Changes of Resting Brain Activity in Parkinson's Disease: A Machine Learning Approach. ⁶¹	Tian ZY...Shao J	32059985	2020

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Genes for Visual Cortex Disease

Genes related to Visual Cortex Disease (0 elite genes):

(show all 22)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	TIMM13	Translocase Of Inner Mitochondrial Membrane 13	Protein Coding	6.39	DISEASES inferred ¹⁵
2	C14orf178	Chromosome 14 Open Reading Frame 178	RNA Gene	6.29	DISEASES inferred ¹⁵
3	NOXRED1	NADP Dependent Oxidoreductase Domain Containing 1	Protein Coding	6.25	DISEASES inferred ¹⁵
4	DOCK7	Dedicator Of Cytokinesis 7	Protein Coding	6.17	DISEASES inferred ¹⁵
5	SAMD15	Sterile Alpha Motif Domain Containing 15	Protein Coding	6.16	DISEASES inferred ¹⁵
6	POLG	DNA Polymerase Gamma, Catalytic Subunit	Protein Coding	6.12	DISEASES inferred ¹⁵
7	TIMM8A	Translocase Of Inner Mitochondrial Membrane 8A	Protein Coding	6.08	DISEASES inferred ¹⁵
8	TIMM29	Translocase Of Inner Mitochondrial Membrane 29	Protein Coding	6.01	DISEASES inferred ¹⁵
9	TIMM10	Translocase Of Inner Mitochondrial Membrane 10	Protein Coding	5.99	DISEASES inferred ¹⁵
10	HNMT	Histamine N-Methyltransferase	Protein Coding	5.99	DISEASES inferred ¹⁵
11	TIMM9	Translocase Of Inner Mitochondrial Membrane 9	Protein Coding	5.97	DISEASES inferred ¹⁵
12	TIMM10B	Translocase Of Inner Mitochondrial Membrane 10B	Protein Coding	5.95	DISEASES inferred ¹⁵
13	INKA1	Inka Box Actin Regulator 1	Protein Coding	5.85	DISEASES inferred ¹⁵
14	PRNP	Prion Protein	Protein Coding	5.76	DISEASES inferred ¹⁵
15	ST8SIA2	ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 2	Protein Coding	5.73	DISEASES inferred ¹⁵
16	RNASEH2C	Ribonuclease H2 Subunit C	Protein Coding	5.67	DISEASES inferred ¹⁵
17	TMED8	Transmembrane P24 Trafficking Protein Family Member 8	Protein Coding	5.62	DISEASES inferred ¹⁵
18	INKA2	Inka Box Actin Regulator 2	Protein Coding	5.59	DISEASES inferred ¹⁵
19	POLG2	DNA Polymerase Gamma 2, Accessory Subunit	Protein Coding	5.55	DISEASES inferred ¹⁵
20	RNASEH2B	Ribonuclease H2 Subunit B	Protein Coding	5.55	DISEASES inferred ¹⁵
21	RNASEH2A	Ribonuclease H2 Subunit A	Protein Coding	5.45	DISEASES inferred ¹⁵
22	ISM2	Isthmin 2	Protein Coding	5.39	DISEASES inferred ¹⁵

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Variations for Visual Cortex Disease

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Expression for Visual Cortex Disease

Search GEO for disease gene expression data for Visual Cortex Disease.

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Pathways for Visual Cortex Disease

Pathways related to Visual Cortex Disease according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Mitochondrial protein import ⁶⁵	10.81	TIMM9 TIMM8A TIMM13 TIMM10B TIMM10

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GO Terms for Visual Cortex Disease

Cellular components related to Visual Cortex Disease according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrion	GO:0005739	10.01	TIMM9 TIMM8A TIMM29 TIMM13 TIMM10B TIMM10
2	mitochondrial inner membrane	GO:0005743	9.63	TIMM9 TIMM8A TIMM29 TIMM13 TIMM10B TIMM10
3	mitochondrial intermembrane space	GO:0005758	9.43	TIMM9 TIMM8A TIMM29 TIMM13 TIMM10B TIMM10
4	TIM22 mitochondrial import inner membrane insertion complex	GO:0042721	9.37	TIMM29 TIMM10B
5	ribonuclease H2 complex	GO:0032299	9.32	RNASEH2C RNASEH2B
6	gamma DNA polymerase complex	GO:0005760	9.26	POLG2 POLG
7	mitochondrial intermembrane space protein transporter complex	GO:0042719	8.92	TIMM9 TIMM13 TIMM10B TIMM10

Biological processes related to Visual Cortex Disease according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein transport	GO:0015031	9.73	TIMM9 TIMM8A TIMM29 TIMM13 TIMM10B TIMM10
2	sensory perception of sound	GO:0007605	9.63	TIMM9 TIMM13 TIMM10
3	protein targeting to mitochondrion	GO:0006626	9.46	TIMM9 TIMM13 TIMM10B TIMM10
4	negative regulation of protein serine/threonine kinase activity	GO:0071901	9.43	INKA2 INKA1
5	RNA catabolic process	GO:0006401	9.4	RNASEH2C RNASEH2B
6	DNA-dependent DNA replication	GO:0006261	9.37	POLG2 POLG
7	mitochondrial DNA replication	GO:0006264	9.32	POLG2 POLG
8	chaperone-mediated protein transport	GO:0072321	9.26	TIMM9 TIMM8A TIMM13 TIMM10
9	protein import into mitochondrial inner membrane	GO:0045039	9.02	TIMM9 TIMM29 TIMM13 TIMM10B TIMM10

Molecular functions related to Visual Cortex Disease according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA-directed DNA polymerase activity	GO:0003887	9.16	POLG2 POLG
2	chaperone binding	GO:0051087	9.13	TIMM9 TIMM10 PRNP
3	protein serine/threonine kinase inhibitor activity	GO:0030291	8.62	INKA2 INKA1

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Sources for Visual Cortex Disease

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