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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	ITGA1
Symbol Alias	VLA1, CD49a
Approved Name	integrin, alpha 1
Location	5q11.1
Position	chr5:52083730-52252327, +
External Links	HGNC: 6134 Entrez Gene: 3672 Ensembl: ENSG00000213949 UCSC: uc003jou.2
No. of Studies	1 (significant: 0; non-significant: 1; trend: 0)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Laurin N, 2008(a)	single marker and haplotype analyses yielded little evidence for significant association	Non-significant

Gene related SNPs (count: 135)

Literature-origin SNPs (count: 14)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs1391983	Chr5:52129212(Fwd)	intron_variant	1(0/1/0)
rs2406217	Chr5:52110389(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs2406369	Chr5:52188389(Fwd)	downstream_gene_variant; intron_variant	1(0/1/0)
rs1421927	Chr5:52242033(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs2456205	Chr5:52179458(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant	1(0/1/0)
rs10513003	Chr5:52228442(Fwd)	intron_variant; nc_transcript_variant; non_coding_exon_variant	1(0/1/0)
rs1478438	Chr5:52203098(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant	1(0/1/0)
rs1478442	Chr5:52209963(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs7732839	Chr5:52173770(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs2860025	Chr5:52114050(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs12110170	Chr5:52142544(Fwd)	intron_variant	1(0/1/0)
rs2193968	Chr5:52247233(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs2126953	Chr5:52161157(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs13188662	Chr5:52091647(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)

LD-proxies (count: 121)

rs_ID	Location	Functional Annotation
rs2456202	Chr5:52179825(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs2447864	Chr5:52179868(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs2456204	Chr5:52179477(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs2456203	Chr5:52179790(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs2447866	Chr5:52182593(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs2447865	Chr5:52180732(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs2456199	Chr5:52182162(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs2456223	Chr5:52177346(Fwd)	intron_variant; nc_transcript_variant
rs2447863	Chr5:52179151(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs2456206	Chr5:52179119(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs2447861	Chr5:52178339(Fwd)	intron_variant; nc_transcript_variant
rs2447859	Chr5:52178056(Fwd)	intron_variant; nc_transcript_variant
rs2456221	Chr5:52163091(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs2456222	Chr5:52163400(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs2447867	Chr5:52157374(Fwd)	synonymous_variant; upstream_gene_variant
rs2169782	Chr5:52159101(Fwd)	intron_variant; upstream_gene_variant
rs6883810	Chr5:52111159(Fwd)	intron_variant; nc_transcript_variant
rs13158244	Chr5:52110814(Fwd)	intron_variant; nc_transcript_variant
rs1551943	Chr5:52195033(Fwd)	intron_variant; upstream_gene_variant
rs13182946	Chr5:52114290(Fwd)	intron_variant; nc_transcript_variant
rs10044180	Chr5:52223733(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs2938796	Chr5:52113951(Fwd)	intron_variant; nc_transcript_variant
rs10038773	Chr5:52223516(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs10940270	Chr5:52081992(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs13189629	Chr5:52078823(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs16880534	Chr5:52232558(Fwd)	intron_variant; nc_transcript_variant
rs10075277	Chr5:52231484(Fwd)	intron_variant; nc_transcript_variant
rs16880533	Chr5:52230770(Fwd)	intron_variant; nc_transcript_variant
rs7728585	Chr5:52229277(Fwd)	intron_variant; nc_transcript_variant; non_coding_exon_variant
rs6450096	Chr5:52222993(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs2454581	Chr5:52117854(Fwd)	intron_variant; nc_transcript_variant
rs6450095	Chr5:52222768(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs12653042	Chr5:52108819(Fwd)	intron_variant; nc_transcript_variant
rs6450094	Chr5:52222751(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs12697100	Chr5:52215457(Fwd)	intron_variant; nc_transcript_variant
rs7718036	Chr5:52227359(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant
rs7723398	Chr5:52229105(Fwd)	intron_variant; nc_transcript_variant; non_coding_exon_variant
rs16880466	Chr5:52203979(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs10044369	Chr5:52171635(Fwd)	intron_variant; nc_transcript_variant
rs11948124	Chr5:52171623(Fwd)	intron_variant; nc_transcript_variant
rs10057067	Chr5:52174656(Fwd)	intron_variant; nc_transcript_variant
rs6878249	Chr5:52175223(Fwd)	intron_variant; nc_transcript_variant
rs1105757	Chr5:52172630(Fwd)	intron_variant; nc_transcript_variant
rs2452868	Chr5:52213855(Fwd)	intron_variant; nc_transcript_variant
rs1478441	Chr5:52204943(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs2035236	Chr5:52219214(Fwd)	intron_variant; nc_transcript_variant
rs2938789	Chr5:52214197(Fwd)	intron_variant; nc_transcript_variant
rs12652105	Chr5:52210883(Fwd)	intron_variant; nc_transcript_variant
rs1478439	Chr5:52203235(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs2279585	Chr5:52215178(Fwd)	intron_variant; nc_transcript_variant
rs2452866	Chr5:52221562(Fwd)	intron_variant; nc_transcript_variant
rs2452867	Chr5:52219646(Fwd)	intron_variant; nc_transcript_variant
rs1275660	Chr5:52230527(Fwd)	intron_variant; nc_transcript_variant
rs2938790	Chr5:52224241(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs1110351	Chr5:52188998(Fwd)	downstream_gene_variant; intron_variant
rs1531545	Chr5:52193287(Fwd)	splice_region_variant; synonymous_variant; upstream_gene_variant
rs7702592	Chr5:52237359(Fwd)	intron_variant; nc_transcript_variant
rs1979398	Chr5:52194327(Fwd)	feature_truncation; intron_variant; upstream_gene_variant
rs2406371	Chr5:52237991(Fwd)	intron_variant; nc_transcript_variant
rs1466445	Chr5:52195127(Fwd)	intron_variant; upstream_gene_variant
rs1363189	Chr5:52240476(Fwd)	intron_variant; nc_transcript_variant
rs2860365	Chr5:52179949(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs10940281	Chr5:52242386(Fwd)	intron_variant; nc_transcript_variant
rs11745366	Chr5:52185240(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs6888620	Chr5:52239660(Fwd)	intron_variant; nc_transcript_variant
rs1421928	Chr5:52241332(Fwd)	intron_variant; nc_transcript_variant
rs6895049	Chr5:52248873(Fwd)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant
rs3088365	Chr5:52249226(Fwd)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant
rs6890588	Chr5:52248904(Fwd)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant
rs1047483	Chr5:52249612(Fwd)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant
rs1047481	Chr5:52249476(Fwd)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant
rs2454579	Chr5:52129007(Fwd)	intron_variant
rs1391984	Chr5:52129172(Fwd)	intron_variant
rs2432144	Chr5:52133266(Fwd)	intron_variant
rs10940285	Chr5:52253394(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs6882655	Chr5:52253656(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs17277080	Chr5:52126758(Fwd)	intron_variant
rs17211100	Chr5:52119443(Fwd)	intron_variant; nc_transcript_variant
rs7704305	Chr5:52150852(Fwd)	intron_variant
rs10046016	Chr5:52150178(Fwd)	intron_variant
rs10471813	Chr5:52082618(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs10038615	Chr5:52153756(Fwd)	intron_variant
rs17209627	Chr5:52088415(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs6894627	Chr5:52152946(Fwd)	intron_variant
rs4865747	Chr5:52094912(Fwd)	intron_variant; nc_transcript_variant
rs6884370	Chr5:52163352(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs17209947	Chr5:52098919(Fwd)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs6886404	Chr5:52154995(Fwd)	intron_variant; upstream_gene_variant
rs17210759	Chr5:52111796(Fwd)	intron_variant; nc_transcript_variant
rs17211038	Chr5:52118488(Fwd)	intron_variant; nc_transcript_variant
rs1820167	Chr5:52119356(Fwd)	intron_variant; nc_transcript_variant
rs16880353	Chr5:52139462(Fwd)	intron_variant
rs6860395	Chr5:52147032(Fwd)	intron_variant
rs6895807	Chr5:52140375(Fwd)	intron_variant
rs10513001	Chr5:52149529(Fwd)	intron_variant
rs10513000	Chr5:52149451(Fwd)	intron_variant
rs12659969	Chr5:52254022(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs10805444	Chr5:52255028(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs6450090	Chr5:52110985(Fwd)	intron_variant; nc_transcript_variant
rs7035	Chr5:52252191(Fwd)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant
rs7718758	Chr5:52246736(Fwd)	intron_variant; nc_transcript_variant
rs6887358	Chr5:52114702(Fwd)	intron_variant; nc_transcript_variant
rs6887205	Chr5:52114611(Fwd)	intron_variant; nc_transcript_variant
rs975885	Chr5:52100836(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs975887	Chr5:52101261(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs1904164	Chr5:52186046(Fwd)	downstream_gene_variant; intron_variant
rs1904162	Chr5:52185966(Fwd)	downstream_gene_variant; intron_variant
rs1904161	Chr5:52185944(Fwd)	downstream_gene_variant; intron_variant
rs2042337	Chr5:52114465(Fwd)	intron_variant; nc_transcript_variant
rs2406218	Chr5:52112304(Fwd)	intron_variant; nc_transcript_variant
rs889295	Chr5:52110710(Fwd)	intron_variant; nc_transcript_variant
rs889294	Chr5:52110676(Fwd)	intron_variant; nc_transcript_variant
rs3765141	Chr5:52102642(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs7731949	Chr5:52188028(Fwd)	downstream_gene_variant; intron_variant
rs7731598	Chr5:52187801(Fwd)	downstream_gene_variant; intron_variant
rs9291999	Chr5:52187662(Fwd)	downstream_gene_variant; intron_variant
rs6871286	Chr5:52186756(Fwd)	downstream_gene_variant; intron_variant
rs6866823	Chr5:52186571(Fwd)	downstream_gene_variant; feature_truncation; intron_variant
rs6886001	Chr5:52186437(Fwd)	downstream_gene_variant; intron_variant
rs12514345	Chr5:52186216(Fwd)	downstream_gene_variant; intron_variant
rs13172757	Chr5:52186139(Fwd)	downstream_gene_variant; intron_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 22)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 22)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0000187	activation of MAPK activity	Biological Process		21
GO:0001669	acrosomal vesicle	Cellular Component		9
GO:0005178	integrin binding	Molecular Function		15
GO:0005515	protein binding	Molecular Function	IPI[16754661]	910
GO:0005518	collagen binding	Molecular Function	TAS[8428973]	8
GO:0005886	plasma membrane	Cellular Component		772
GO:0006936	muscle contraction	Biological Process		18
GO:0007160	cell-matrix adhesion	Biological Process		13
GO:0007229	integrin-mediated signaling pathway	Biological Process		10
GO:0007411	axon guidance	Biological Process		65
GO:0008305	integrin complex	Cellular Component	TAS[8428973]	5
GO:0009897	external side of plasma membrane	Cellular Component		34
GO:0030593	neutrophil chemotaxis	Biological Process		7
GO:0042311	vasodilation	Biological Process		3
GO:0043204	perikaryon	Cellular Component		12
GO:0043005	neuron projection	Cellular Component		35
GO:0045121	membrane raft	Cellular Component		22
GO:0043525	positive regulation of neuron apoptotic process	Biological Process		9
GO:0045178	basal part of cell	Cellular Component		2
GO:0045123	cellular extravasation	Biological Process		1
GO:0046982	protein heterodimerization activity	Molecular Function		68
GO:0046872	metal ion binding	Molecular Function		170

Gene related KEGG pathways (count: 7)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04640	Hematopoietic cell lineage	13	Blood-cell development progresses from a hematopoietic stem ...... Blood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid progenitor (CLP) or a common myeloid progenitor (CMP). A CLP gives rise to the lymphoid lineage of white blood cells or leukocytes-the natural killer (NK) cells and the T and B lymphocytes. A CMP gives rise to the myeloid lineage, which comprises the rest of the leukocytes, the erythrocytes (red blood cells), and the megakaryocytes that produce platelets important in blood clotting. Cells undergoing these differentiation process express a stage- and lineage-specific set of surface markers. Therefore cellular stages are identified by the specific expression patterns of these genes. More...
hsa05414	Dilated cardiomyopathy	23	Dilated cardiomyopathy (DCM) is a heart muscle disease chara...... Dilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac death from ventricular arrhythmia. Genetically inherited forms of DCM ("familial" DCM) have been identified in 25-35% of patients presenting with this disease, and the inherited gene defects are an important cause of "familial" DCM. The pathophysiology may be separated into two categories: defects in force generation and defects in force transmission. In cases where an underlying pathology cannot be identified, the patient is diagnosed with an "idiopathic" DCM. Current hypotheses regarding causes of "idiopathic" DCM focus on myocarditis induced by enterovirus and subsequent autoimmune myocardium impairments. Antibodies to the beta1-adrenergic receptor (beta1AR), which are detected in a substantial number of patients with "idiopathic" DCM, may increase the concentration of intracellular cAMP and intracellular Ca2+, a condition often leading to a transient hyper-performance of the heart followed by depressed heart function and heart failure. More...
hsa05410	Hypertrophic cardiomyopathy (HCM)	25	Hypertrophic cardiomyopathy (HCM) is a primary myocardial di...... Hypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological features of myocyte hypertrophy, myfibrillar disarray, and interstitial fibrosis. HCM is one of the most common inherited cardiac disorders, with a prevalence in young adults of 1 in 500. Hundreds of mutations in 11 genes that encode protein constituents of the sarcomere have been identified in HCM. These mutations increase the Ca2+ sensitivity of cardiac myofilaments. Increased myofilament Ca2+ sensitivity is expected to increase the ATP utilization by actomyosin at submaximal Ca2+ concentrations, which might cause an imbalance in energy supply and demand in the heart under severe stress. The inefficient use of ATP suggests that an inability to maintain normal ATP levels could be the central abnormality. This theory might be supported by the discovery of the role of a mutant PRKAG2 gene in HCM, which in active form acts as a central sensing mechanism protecting cells from depletion of ATP supplies. The increase in the myfilament Ca2+ sensitivity well account for the diastolic dysfunction of model animals as well as human patients of HCM. It has been widely proposed that left ventricular hypertrophy is not a primary manifestation but develops as compensatory response to sarcomere dysfunction. More...
hsa04512	ECM-receptor interaction	13	The extracellular matrix (ECM) consists of a complex mixture...... The extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell and tissue structure and function. Specific interactions between cells and the ECM are mediated by transmembrane molecules, mainly integrins and perhaps also proteoglycans, CD36, or other cell-surface-associated components. These interactions lead to a direct or indirect control of cellular activities such as adhesion, migration, differentiation, proliferation, and apoptosis. In addition, integrins function as mechanoreceptors and provide a force-transmitting physical link between the ECM and the cytoskeleton. Integrins are a family of glycosylated, heterodimeric transmembrane adhesion receptors that consist of noncovalently bound alpha- and beta-subunits. More...
hsa04510	Focal adhesion	40	Cell-matrix adhesions play essential roles in important biol...... Cell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the cell-extracellular matrix contact points, specialized structures are formed and termed focal adhesions, where bundles of actin filaments are anchored to transmembrane receptors of the integrin family through a multi-molecular complex of junctional plaque proteins. Some of the constituents of focal adhesions participate in the structural link between membrane receptors and the actin cytoskeleton, while others are signalling molecules, including different protein kinases and phosphatases, their substrates, and various adapter proteins. Integrin signaling is dependent upon the non-receptor tyrosine kinase activities of the FAK and src proteins as well as the adaptor protein functions of FAK, src and Shc to initiate downstream signaling events. These signalling events culminate in reorganization of the actin cytoskeleton; a prerequisite for changes in cell shape and motility, and gene expression. Similar morphological alterations and modulation of gene expression are initiated by the binding of growth factors to their respective receptors, emphasizing the considerable crosstalk between adhesion- and growth factor-mediated signalling. More...
hsa04810	Regulation of actin cytoskeleton	48
hsa05412	Arrhythmogenic right ventricular cardiomyopathy (ARVC)	27	Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an...... Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are progressive myocyte loss and fibrofatty replacement, with a predilection for the right ventricle. A number of genetic studies have identified mutations in various components of the cardiac desmosome that have important roles in the pathogenesis of ARVC. Disruption of desmosomal function by defective proteins might lead to death of myocytes under mechanical stress. The myocardial injury may be accompanied by inflammation. Since regeneration of cardiac myocytes is limited, repair by fibrofatty replacement occurs. Several studies have implicated that desmosome dysfunction results in the delocalization and nuclear translocation of plakoglobin. As a result, competition between plakoglobin and beta-catenin will lead to the inhibition of Wnt/beta-catenin signaling, resulting in a shift from a myocyte fate towards an adipocyte fate of cells. The ryanodine receptor plays a crucial part in electromechanical coupling by control of release of calcium from the sarcoplasmic reticulum into the cytosol. Therefore, defects in this receptor could result in an imbalance of calcium homeostasis that might trigger cell death. More...

Genes shared at least 5 GO terms with ITGA1 (count: 9)

Gene Symbol	Pathway Count	Pathway List
ITGA2	10	protein binding; collagen binding; plasma membrane; cell-matrix adhesion; integrin-mediated signaling pathway; axon guidance; integrin complex; external side of plasma membrane; basal part of cell; metal ion binding;
ITGA11	6	collagen binding; plasma membrane; cell-matrix adhesion; integrin-mediated signaling pathway; integrin complex; metal ion binding;
GSK3B	5	integrin binding; protein binding; plasma membrane; axon guidance; membrane raft;
ILK	5	integrin binding; protein binding; plasma membrane; cell-matrix adhesion; integrin-mediated signaling pathway;
JAM3	5	integrin binding; protein binding; plasma membrane; cell-matrix adhesion; protein heterodimerization activity;
SYK	5	integrin binding; protein binding; plasma membrane; integrin-mediated signaling pathway; neutrophil chemotaxis;
THY1	5	integrin binding; protein binding; plasma membrane; external side of plasma membrane; membrane raft;
ITGAE	5	plasma membrane; integrin-mediated signaling pathway; integrin complex; external side of plasma membrane; metal ion binding;
ITGAL	5	plasma membrane; integrin-mediated signaling pathway; integrin complex; external side of plasma membrane; metal ion binding;

Genes shared at least 2 KEGG pathways with ITGA1 (count: 41)

Gene Symbol	Pathway Count	Pathway List
ITGA2	7	Hematopoietic cell lineage; Dilated cardiomyopathy; Hypertrophic cardiomyopathy (HCM); ECM-receptor interaction; Focal adhesion; Regulation of actin cytoskeleton; Arrhythmogenic right ventricular cardiomyopathy (ARVC);
ITGA11	6	Dilated cardiomyopathy; Hypertrophic cardiomyopathy (HCM); ECM-receptor interaction; Focal adhesion; Regulation of actin cytoskeleton; Arrhythmogenic right ventricular cardiomyopathy (ARVC);
LAMA2	5	Dilated cardiomyopathy; Hypertrophic cardiomyopathy (HCM); ECM-receptor interaction; Focal adhesion; Arrhythmogenic right ventricular cardiomyopathy (ARVC);
CACNA1C	3	Dilated cardiomyopathy; Hypertrophic cardiomyopathy (HCM); Arrhythmogenic right ventricular cardiomyopathy (ARVC);
CACNA1D	3	Dilated cardiomyopathy; Hypertrophic cardiomyopathy (HCM); Arrhythmogenic right ventricular cardiomyopathy (ARVC);
CACNA1F	3	Dilated cardiomyopathy; Hypertrophic cardiomyopathy (HCM); Arrhythmogenic right ventricular cardiomyopathy (ARVC);
CACNA1S	3	Dilated cardiomyopathy; Hypertrophic cardiomyopathy (HCM); Arrhythmogenic right ventricular cardiomyopathy (ARVC);
CACNA2D1	3	Dilated cardiomyopathy; Hypertrophic cardiomyopathy (HCM); Arrhythmogenic right ventricular cardiomyopathy (ARVC);
CACNB1	3	Dilated cardiomyopathy; Hypertrophic cardiomyopathy (HCM); Arrhythmogenic right ventricular cardiomyopathy (ARVC);
CACNB2	3	Dilated cardiomyopathy; Hypertrophic cardiomyopathy (HCM); Arrhythmogenic right ventricular cardiomyopathy (ARVC);
CACNB3	3	Dilated cardiomyopathy; Hypertrophic cardiomyopathy (HCM); Arrhythmogenic right ventricular cardiomyopathy (ARVC);
CACNB4	3	Dilated cardiomyopathy; Hypertrophic cardiomyopathy (HCM); Arrhythmogenic right ventricular cardiomyopathy (ARVC);
CACNG1	3	Dilated cardiomyopathy; Hypertrophic cardiomyopathy (HCM); Arrhythmogenic right ventricular cardiomyopathy (ARVC);
CACNG2	3	Dilated cardiomyopathy; Hypertrophic cardiomyopathy (HCM); Arrhythmogenic right ventricular cardiomyopathy (ARVC);
CACNG4	3	Dilated cardiomyopathy; Hypertrophic cardiomyopathy (HCM); Arrhythmogenic right ventricular cardiomyopathy (ARVC);
CACNG5	3	Dilated cardiomyopathy; Hypertrophic cardiomyopathy (HCM); Arrhythmogenic right ventricular cardiomyopathy (ARVC);
DES	3	Dilated cardiomyopathy; Hypertrophic cardiomyopathy (HCM); Arrhythmogenic right ventricular cardiomyopathy (ARVC);
RYR2	3	Dilated cardiomyopathy; Hypertrophic cardiomyopathy (HCM); Arrhythmogenic right ventricular cardiomyopathy (ARVC);
SGCD	3	Dilated cardiomyopathy; Hypertrophic cardiomyopathy (HCM); Arrhythmogenic right ventricular cardiomyopathy (ARVC);
FN1	3	ECM-receptor interaction; Focal adhesion; Regulation of actin cytoskeleton;
ACTN3	3	Focal adhesion; Regulation of actin cytoskeleton; Arrhythmogenic right ventricular cardiomyopathy (ARVC);
GP1BB	2	Hematopoietic cell lineage; ECM-receptor interaction;
IL6	2	Hematopoietic cell lineage; Hypertrophic cardiomyopathy (HCM);
LAMA3	2	ECM-receptor interaction; Focal adhesion;
LAMC1	2	ECM-receptor interaction; Focal adhesion;
LAMC2	2	ECM-receptor interaction; Focal adhesion;
TNC	2	ECM-receptor interaction; Focal adhesion;
TNN	2	ECM-receptor interaction; Focal adhesion;
TNR	2	ECM-receptor interaction; Focal adhesion;
BCAR1	2	Focal adhesion; Regulation of actin cytoskeleton;
CRKL	2	Focal adhesion; Regulation of actin cytoskeleton;
MAPK1	2	Focal adhesion; Regulation of actin cytoskeleton;
MAPK3	2	Focal adhesion; Regulation of actin cytoskeleton;
MYLPF	2	Focal adhesion; Regulation of actin cytoskeleton;
PAK1	2	Focal adhesion; Regulation of actin cytoskeleton;
PAK7	2	Focal adhesion; Regulation of actin cytoskeleton;
PDGFD	2	Focal adhesion; Regulation of actin cytoskeleton;
PIK3CG	2	Focal adhesion; Regulation of actin cytoskeleton;
PIK3R1	2	Focal adhesion; Regulation of actin cytoskeleton;
PPP1CA	2	Focal adhesion; Regulation of actin cytoskeleton;
ROCK2	2	Focal adhesion; Regulation of actin cytoskeleton;

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Region: chr5:52083730..52252327 View in gBrowse