Malformations of Cortical Development, Group I - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	Malformations of Cortical Development, Group I	go back to main search page
Accession:	DOID:9005611	browse the term
Definition:	Cortical malformations secondary to abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS in NEUROGENESIS. This group includes congenital MICROCEPHALIES; MICROLISSENCEPHALIES, megalencephalies, HEMIMEGALENCEPHALIES and cortical dysplasias with balloon cells.
Synonyms:	exact_synonym:	Abnormal Proliferation Cortical Malformations; Cortical Malformations, Group I; Malformations Due to Abnormal Neuronal and Glial Proliferation or Apoptosis; Malformations Secondary to Abnormal Neuronal and Glial Proliferation or Apoptosis
	primary_id:	MESH:D065703

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Rat (1393) Mouse (1401) Human (41078) Chinchilla (1339) Bonobo (1382) Dog (1387) Squirrel (1354) Pig (1368) Green Monkey (1377) Naked Mole-rat (1328) All
Genes (1881) QTL (2) Variants (38964) Cell Lines (231)

3p deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

novel transcript

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,742,944...17,745,662
Ensembl chr 3:17,742,952...17,745,665

G

ankyrin repeat domain 28

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,667,236...15,859,814
Ensembl chr 3:15,667,236...15,859,771

G

B-cell acute lymphoblastic leukemia associated long RNA 6

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,962,552...18,268,922

G

biotinidase

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,601,361...15,722,516
Ensembl chr 3:15,601,341...15,722,311

G

chromosome 3 open reading frame 20

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,675,141...14,773,036
Ensembl chr 3:14,675,141...14,773,036

G

calpain 7

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,206,246...15,252,916
Ensembl chr 3:15,206,152...15,252,916

G

coiled-coil domain containing 174

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,651,762...14,672,655
Ensembl chr 3:14,651,762...14,672,659

G

coiled-coil-helix-coiled-coil-helix domain containing 4

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,112,077...14,124,870
Ensembl chr 3:14,112,077...14,124,870

G

collagen like tail subunit of asymmetric acetylcholinesterase

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,450,133...15,521,706
Ensembl chr 3:15,450,133...15,521,751

G

deleted in azoospermia like

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,586,792...16,605,423
Ensembl chr 3:16,586,792...16,670,306

G

diphthamide biosynthesis 3

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,257,061...16,264,943
Ensembl chr 3:16,257,061...16,264,969

G

ELL associated factor 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,427,598...15,442,613
Ensembl chr 3:15,427,598...15,450,635

G

EF-hand domain family member B

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,879,472...19,946,983
Ensembl chr 3:19,879,472...19,947,025

G

fibulin 2

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,549,125...13,638,404
Ensembl chr 3:13,549,125...13,638,422

G

FYVE, RhoGEF and PH domain containing 5

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,810,688...14,934,571
Ensembl chr 3:14,810,853...14,934,571

G

FGD5 antisense RNA 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,942,779...14,948,441
Ensembl chr 3:14,920,347...14,948,424

G

polypeptide N-acetylgalactosaminyltransferase 15

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,174,680...16,248,224
Ensembl chr 3:16,174,680...16,231,992

G

glutamate receptor interacting protein 2

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,489,107...14,603,017
Ensembl chr 3:14,489,107...14,556,075

G

2-hydroxyacyl-CoA lyase 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,560,699...15,601,569
Ensembl chr 3:15,560,699...15,601,852

G

histone deacetylase 11

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,480,306...13,506,416
Ensembl chr 3:13,479,724...13,506,424

G

HDAC11 antisense RNA 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,476,987...13,480,053
Ensembl chr 3:13,476,982...13,480,053

G

lysine acetyltransferase 2B

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:20,040,446...20,154,404
Ensembl chr 3:20,040,446...20,154,404

G

potassium voltage-gated channel subfamily H member 8

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,148,510...19,535,642
Ensembl chr 3:19,148,510...19,535,642

G

long intergenic non-protein coding RNA 620

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,650,721...13,746,635
Ensembl chr 3:13,650,696...13,746,638

G

long intergenic non-protein coding RNA 690

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,536,318...16,541,373
Ensembl chr 3:16,524,771...16,541,903

G

long intergenic non-protein coding RNA 1267

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,348,451...14,352,568
Ensembl chr 3:14,348,451...14,352,568

G

long intergenic non-protein coding RNA 2011

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,799,331...14,811,414
Ensembl chr 3:14,799,331...14,811,414

G

meiotic recombination hotspot H

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,774,745...14,777,347

G

NUP210-HDAC11 intergenic CAGE-defined high expression enhancer

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,451,611...13,452,192

G

VISTA enhancer hs250

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:18,127,870...18,128,745

G

uncharacterized LOC112268445

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,036,416...14,047,153

G

Sharpr-MPRA regulatory region 4110

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,662,349...13,662,643

G

Sharpr-MPRA regulatory region 8692

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,847,962...14,848,256

G

P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:16142361-16143560

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,100,854...16,102,053

G

CRISPRi-validated cis-regulatory element chr3.770

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,232,347...14,233,211

G

CRISPRi-validated cis-regulatory element chr3.771

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,234,498...14,234,613

G

CRISPRi-validated cis-regulatory element chr3.1018

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:20,022,860...20,023,307

G

Sharpr-MPRA regulatory region 3172

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,461,649...13,461,943

G

Sharpr-MPRA regulatory region 12774

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,613,769...13,614,063

G

Sharpr-MPRA regulatory region 1149

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,850,412...13,850,706

G

H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14473371-14474282

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,431,863...14,432,774

G

Sharpr-MPRA regulatory region 2856

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,331,342...16,331,636

G

Sharpr-MPRA regulatory region 227/3570

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,508,961...14,509,255

G

Sharpr-MPRA regulatory region 11154

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,952,902...15,953,196

G

Sharpr-MPRA regulatory region 8904

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,247,342...16,247,636

G

Sharpr-MPRA regulatory region 10783

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,231,937...17,232,231

G

OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr3:17901798-17902528 and GRCh37_chr3:17902529-17903258

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,860,306...17,861,766

G

Sharpr-MPRA regulatory region 12997

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,483,369...13,483,663

G

Sharpr-MPRA regulatory region 1925

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,903,992...13,904,286

G

H3K27ac hESC enhancer GRCh37_chr3:14185247-14185934

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,143,747...14,144,434

G

Sharpr-MPRA regulatory region 15385

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,925,642...14,925,936

G

Sharpr-MPRA regulatory region 6531

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,647,642...15,647,936

G

Sharpr-MPRA regulatory region 448

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,659,462...16,659,756

G

Sharpr-MPRA regulatory region 1410

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,013,117...17,013,411

G

Sharpr-MPRA regulatory region 1226

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,144,157...17,144,451

G

Sharpr-MPRA regulatory region 9690

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,449,757...17,450,051

G

Sharpr-MPRA regulatory region 5433

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,877,377...17,877,671

G

Sharpr-MPRA regulatory region 1190

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:18,234,437...18,234,731

G

OCT4-NANOG hESC enhancer GRCh37_chr3:19308542-19309065

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,267,050...19,267,573

G

Sharpr-MPRA regulatory region 12217

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,931,217...19,931,511

G

P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:13895244-13896443

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,853,196...13,855,133

G

P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:14004233-14005432

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,962,733...13,963,932

G

P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:14058498-14059697

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,016,998...14,018,197

G

P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:14098805-14100004

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,057,305...14,058,504

G

CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:14293769-14294968

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,252,269...14,253,468

G

MED14-independent group 3 enhancer GRCh37_chr3:14451820-14453019

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,410,312...14,411,511

G

BRD4-independent group 4 enhancer GRCh37_chr3:14712491-14713690

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,670,984...14,672,327

G

CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:14963648-14964847

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,922,141...14,923,340

G

BRD4-independent group 4 enhancer GRCh37_chr3:15198577-15199776

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,157,070...15,158,269

G

MED14-independent group 3 enhancer GRCh37_chr3:15310708-15311907

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,269,201...15,270,400

G

BRD4-independent group 4 enhancer GRCh37_chr3:16101158-16102357

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,059,651...16,060,850

G

P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:17080505-17081704

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,039,013...17,040,212

G

P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:18140124-18141323

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:18,098,632...18,099,831

G

CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:18617865-18619064

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:18,576,373...18,577,572

G

CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:19005809-19007008

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:18,964,317...18,965,516

G

CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:19167677-19168876

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,126,185...19,127,384

G

BRD4-independent group 4 enhancer GRCh37_chr3:19491994-19493193

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,450,502...19,451,701

G

P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:19906013-19907212

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,864,521...19,865,720

G

MPRA-validated peak4544 silencer

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,929,283...13,929,483

G

MPRA-validated peak4545 silencer

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,680,778...14,680,978

G

MPRA-validated peak4546 silencer

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,155,088...15,155,288

G

MPRA-validated peak4551 silencer

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,386,463...17,386,663

G

MPRA-validated peak4555 silencer

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,598,803...17,599,003

G

MPRA-validated peak4556 silencer

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,682,643...17,682,843

G

ATAC-STARR-seq lymphoblastoid active region 19488

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,414,015...13,414,064

G

ATAC-STARR-seq lymphoblastoid active region 19489

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,416,465...13,416,614

G

ATAC-STARR-seq lymphoblastoid active region 19490

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,416,675...13,416,744

G

ATAC-STARR-seq lymphoblastoid silent region 14084

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,419,537...13,420,106

G

ATAC-STARR-seq lymphoblastoid silent region 14085

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,420,157...13,420,556

G

ATAC-STARR-seq lymphoblastoid active region 19491

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,479,662...13,479,721

G

ATAC-STARR-seq lymphoblastoid active region 19492

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,513,064...13,513,223

G

ATAC-STARR-seq lymphoblastoid silent region 14087

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,557,728...13,557,777

G

ATAC-STARR-seq lymphoblastoid active region 19493

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,648,199...13,648,358

G

ATAC-STARR-seq lymphoblastoid active region 19494

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,895,695...13,895,834

G

ATAC-STARR-seq lymphoblastoid active region 19495

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,082,275...14,082,324

G

ATAC-STARR-seq lymphoblastoid active region 19496

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,123,627...14,123,726

G

ATAC-STARR-seq lymphoblastoid silent region 14088

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,124,287...14,124,336

G

ATAC-STARR-seq lymphoblastoid active region 19499

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,144,780...14,144,889

G

ATAC-STARR-seq lymphoblastoid silent region 14090

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,178,241...14,178,360

G

ATAC-STARR-seq lymphoblastoid active region 19500

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,178,411...14,178,760

G

ATAC-STARR-seq lymphoblastoid active region 19501

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,178,861...14,178,910

G

ATAC-STARR-seq lymphoblastoid silent region 14091

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,216,384...14,216,433

G

ATAC-STARR-seq lymphoblastoid silent region 14092

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,216,464...14,216,543

G

ATAC-STARR-seq lymphoblastoid active region 19502

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,319,522...14,319,831

G

ATAC-STARR-seq lymphoblastoid active region 19503

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,319,852...14,319,911

G

ATAC-STARR-seq lymphoblastoid active region 19504

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,371,805...14,372,044

G

ATAC-STARR-seq lymphoblastoid active region 19505

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,402,030...14,402,079

G

ATAC-STARR-seq lymphoblastoid active region 19506

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,402,090...14,402,259

G

ATAC-STARR-seq lymphoblastoid silent region 14093

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,402,400...14,402,929

G

ATAC-STARR-seq lymphoblastoid active region 19507

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,403,580...14,403,639

G

ATAC-STARR-seq lymphoblastoid active region 19508

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,403,710...14,403,789

G

ATAC-STARR-seq lymphoblastoid silent region 14094

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,413,730...14,413,829

G

ATAC-STARR-seq lymphoblastoid active region 19515

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,652,005...14,652,074

G

ATAC-STARR-seq lymphoblastoid active region 19517

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,673,653...14,673,702

G

ATAC-STARR-seq lymphoblastoid active region 19518

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,686,478...14,686,627

G

ATAC-STARR-seq lymphoblastoid active region 19519

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,688,801...14,688,860

G

ATAC-STARR-seq lymphoblastoid active region 19520

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,718,579...14,718,698

G

ATAC-STARR-seq lymphoblastoid active region 19521

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,741,598...14,741,697

G

ATAC-STARR-seq lymphoblastoid silent region 14097

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,947,686...14,947,755

G

ATAC-STARR-seq lymphoblastoid active region 19523

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,959,391...14,959,530

G

ATAC-STARR-seq lymphoblastoid active region 19524

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,050,433...15,050,512

G

ATAC-STARR-seq lymphoblastoid active region 19525

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,065,295...15,065,474

G

ATAC-STARR-seq lymphoblastoid silent region 14100

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,097,936...15,098,015

G

ATAC-STARR-seq lymphoblastoid active region 19527

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,202,767...15,202,816

G

ATAC-STARR-seq lymphoblastoid silent region 14101

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,205,952...15,206,471

G

ATAC-STARR-seq lymphoblastoid active region 19530

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,328,071...15,328,260

G

ATAC-STARR-seq lymphoblastoid silent region 14103

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,332,155...15,332,214

G

ATAC-STARR-seq lymphoblastoid silent region 14104

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,332,295...15,332,694

G

ATAC-STARR-seq lymphoblastoid silent region 14105

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,338,610...15,338,659

G

ATAC-STARR-seq lymphoblastoid silent region 14106

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,362,520...15,362,579

G

ATAC-STARR-seq lymphoblastoid active region 19531

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,378,498...15,378,697

G

ATAC-STARR-seq lymphoblastoid active region 19532

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,384,420...15,384,519

G

ATAC-STARR-seq lymphoblastoid active region 19533

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,384,640...15,384,689

G

ATAC-STARR-seq lymphoblastoid active region 19534

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,427,675...15,427,954

G

ATAC-STARR-seq lymphoblastoid silent region 14108

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,768,980...15,769,029

G

ATAC-STARR-seq lymphoblastoid active region 19535

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,794,444...15,794,593

G

ATAC-STARR-seq lymphoblastoid silent region 14109

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,802,210...15,802,309

G

ATAC-STARR-seq lymphoblastoid active region 19536

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,804,628...15,804,767

G

ATAC-STARR-seq lymphoblastoid active region 19537

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,805,995...15,806,044

G

ATAC-STARR-seq lymphoblastoid active region 19538

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,845,826...15,845,905

G

ATAC-STARR-seq lymphoblastoid silent region 14110

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,859,142...15,859,391

G

ATAC-STARR-seq lymphoblastoid silent region 14111

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,859,452...15,859,731

G

ATAC-STARR-seq lymphoblastoid silent region 14112

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,859,812...15,860,131

G

ATAC-STARR-seq lymphoblastoid active region 19539

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,146,091...16,146,370

G

ATAC-STARR-seq lymphoblastoid active region 19540

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,264,775...16,265,084

G

ATAC-STARR-seq lymphoblastoid silent region 14113

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,286,261...16,286,400

G

ATAC-STARR-seq lymphoblastoid silent region 14114

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,300,989...16,301,108

G

ATAC-STARR-seq lymphoblastoid silent region 14115

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,338,298...16,338,357

G

ATAC-STARR-seq lymphoblastoid active region 19541

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,373,793...16,373,842

G

ATAC-STARR-seq lymphoblastoid active region 19542

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,378,945...16,379,034

G

ATAC-STARR-seq lymphoblastoid active region 19543

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,414,997...16,415,086

G

ATAC-STARR-seq lymphoblastoid silent region 14116

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,433,725...16,433,854

G

ATAC-STARR-seq lymphoblastoid active region 19544

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,467,424...16,467,553

G

ATAC-STARR-seq lymphoblastoid active region 19545

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,467,794...16,467,923

G

ATAC-STARR-seq lymphoblastoid active region 19546

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,496,159...16,496,288

G

ATAC-STARR-seq lymphoblastoid active region 19547

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,496,309...16,496,478

G

ATAC-STARR-seq lymphoblastoid active region 19548

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,508,242...16,508,321

G

ATAC-STARR-seq lymphoblastoid active region 19549

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,510,251...16,510,410

G

ATAC-STARR-seq lymphoblastoid active region 19550

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,512,139...16,512,548

G

ATAC-STARR-seq lymphoblastoid active region 19551

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,513,099...16,513,178

G

ATAC-STARR-seq lymphoblastoid silent region 14117

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,513,469...16,513,828

G

ATAC-STARR-seq lymphoblastoid silent region 14118

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,513,859...16,513,928

G

ATAC-STARR-seq lymphoblastoid silent region 14119

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,515,865...16,515,914

G

ATAC-STARR-seq lymphoblastoid active region 19552

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,520,316...16,520,365

G

ATAC-STARR-seq lymphoblastoid active region 19553

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,697,715...16,697,764

G

ATAC-STARR-seq lymphoblastoid active region 19554

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,820,597...16,820,776

G

ATAC-STARR-seq lymphoblastoid active region 19555

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,842,316...16,842,565

G

ATAC-STARR-seq lymphoblastoid silent region 14120

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,884,108...16,884,777

G

ATAC-STARR-seq lymphoblastoid active region 19556

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,889,304...16,889,403

G

ATAC-STARR-seq lymphoblastoid active region 19557

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,912,624...16,912,853

G

ATAC-STARR-seq lymphoblastoid silent region 14122

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,917,440...16,917,539

G

ATAC-STARR-seq lymphoblastoid active region 19558

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,928,180...16,928,429

G

ATAC-STARR-seq lymphoblastoid active region 19559

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,928,490...16,928,649

G

ATAC-STARR-seq lymphoblastoid active region 19560

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,023,030...17,023,249

G

ATAC-STARR-seq lymphoblastoid active region 19561

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,023,320...17,023,399

G

ATAC-STARR-seq lymphoblastoid active region 19562

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,054,420...17,054,609

G

ATAC-STARR-seq lymphoblastoid active region 19563

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,110,701...17,110,770

G

ATAC-STARR-seq lymphoblastoid active region 19564

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,151,425...17,151,504

G

ATAC-STARR-seq lymphoblastoid active region 19567

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,179,873...17,179,922

G

ATAC-STARR-seq lymphoblastoid silent region 14123

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,182,365...17,182,464

G

ATAC-STARR-seq lymphoblastoid active region 19568

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,196,258...17,196,367

G

ATAC-STARR-seq lymphoblastoid silent region 14124

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,196,548...17,196,597

G

ATAC-STARR-seq lymphoblastoid active region 19569

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,232,606...17,232,675

G

ATAC-STARR-seq lymphoblastoid active region 19570

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,233,675...17,233,744

G

ATAC-STARR-seq lymphoblastoid active region 19571

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,573,845...17,573,934

G

ATAC-STARR-seq lymphoblastoid silent region 14125

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,742,118...17,742,317

G

ATAC-STARR-seq lymphoblastoid active region 19573

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,747,187...17,747,356

G

ATAC-STARR-seq lymphoblastoid silent region 14127

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,747,727...17,747,846

G

ATAC-STARR-seq lymphoblastoid silent region 14128

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,774,369...17,774,458

G

ATAC-STARR-seq lymphoblastoid silent region 14129

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:18,445,143...18,445,362

G

ATAC-STARR-seq lymphoblastoid silent region 14130

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,349,010...19,349,059

G

ATAC-STARR-seq lymphoblastoid active region 19575

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,540,704...19,540,813

G

ATAC-STARR-seq lymphoblastoid silent region 14131

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,541,427...19,541,596

G

ATAC-STARR-seq lymphoblastoid active region 19576

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,542,816...19,542,905

G

Neanderthal introgressed variant-containing enhancers experimental_67714 and experimental_67716

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,946,990...19,947,254

G

ATAC-STARR-seq lymphoblastoid active region 19578

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,947,686...19,947,735

G

ATAC-STARR-seq lymphoblastoid active region 19579

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:20,041,758...20,041,947

G

ATAC-STARR-seq lymphoblastoid active region 19580

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:20,043,309...20,043,478

G

ATAC-STARR-seq lymphoblastoid active region 19581

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:20,043,559...20,043,718

G

ATAC-STARR-seq lymphoblastoid active region 19582

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:20,054,958...20,055,197

G

Neanderthal introgressed variant-containing enhancer experimental_64801

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,907,416...13,907,585

G

Neanderthal introgressed variant-containing enhancer experimental_64840

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,047,554...14,047,723

G

Neanderthal introgressed variant-containing enhancer experimental_64938

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,324,523...14,324,692

G

Neanderthal introgressed variant-containing enhancer experimental_64943

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,335,179...14,335,348

G

Neanderthal introgressed variant-containing enhancer experimental_65637

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,658,693...15,658,862

G

Neanderthal introgressed variant-containing enhancer experimental_65770

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,969,709...15,969,878

G

Neanderthal introgressed variant-containing enhancer experimental_67588

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,817,685...19,817,854

G

Neanderthal introgressed variant-containing enhancer experimental_67669

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,887,058...19,887,227

G

Neanderthal introgressed variant-containing enhancer experimental_67675

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,903,188...19,903,357

G

Neanderthal introgressed variant-containing enhancer experimental_67685

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,908,666...19,908,835

G

Neanderthal introgressed variant-containing enhancer experimental_67692

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,914,747...19,914,916

G

Neanderthal introgressed variant-containing enhancer experimental_67694

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,915,418...19,915,587

G

Neanderthal introgressed variant-containing enhancer experimental_67724

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,960,817...19,960,986

G

Neanderthal introgressed variant-containing enhancer experimental_67730

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,968,518...19,968,687

G

Neanderthal introgressed variant-containing enhancer experimental_67732

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,968,730...19,968,899

G

Neanderthal introgressed variant-containing enhancer experimental_67745

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:20,058,913...20,059,082

G

Neanderthal introgressed variant-containing enhancer experimental_66731

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,148,915...17,149,084

G

Neanderthal introgressed variant-containing enhancer experimental_67680

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,905,929...19,906,098

G

Neanderthal introgressed variant-containing enhancers experimental_67687 and experimental_67689

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,909,649...19,909,853

G

LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,178,817...14,201,122
Ensembl chr 3:14,178,817...14,201,122

G

methyltransferase 6, tRNA N3-cytidine

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,381,275...15,427,643
Ensembl chr 3:15,381,275...15,440,566

G

microRNA 3134

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,697,298...15,697,371
Ensembl chr 3:15,697,298...15,697,371

G

microRNA 3714

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,933,196...16,933,260
Ensembl chr 3:16,933,196...16,933,260

G

microRNA 4270

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,496,239...15,496,308
Ensembl chr 3:15,496,239...15,496,308

G

microRNA 4791

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,314,848...19,314,931
Ensembl chr 3:19,314,848...19,314,931

G

microRNA 563

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,873,771...15,873,849
Ensembl chr 3:15,873,771...15,873,849

G

mitochondrial ribosomal protein S25

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,042,251...15,065,315
Ensembl chr 3:15,009,611...15,065,339

G

nuclear receptor subfamily 2 group C member 2

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,947,583...15,049,273
Ensembl chr 3:14,947,583...15,053,600

G

nucleoporin 210

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,316,235...13,420,322
Ensembl chr 3:13,316,235...13,420,322

G

oxidoreductase NAD binding domain containing 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,265,212...16,352,095
Ensembl chr 3:16,265,160...16,350,299

G

phospholipase C like 2

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,884,955...17,090,606
Ensembl chr 3:16,802,651...17,090,604

G

PLCL2 antisense RNA 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,042,752...17,054,584
Ensembl chr 3:17,042,742...17,044,192

G

protein phosphatase 2C like domain containing 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,979,961...20,012,264
Ensembl chr 3:19,979,961...20,012,267

G

RAB5A, member RAS oncogene family

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,947,097...19,985,175
Ensembl chr 3:19,947,097...19,985,175

G

rabenosyn, RAB effector

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,070,073...15,099,148
Ensembl chr 3:15,070,073...15,099,163

G

raftlin, lipid raft linker 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,315,845...16,513,699
Ensembl chr 3:16,313,574...16,514,026

G

SATB homeobox 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,621

G

SATB1 antisense RNA 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:18,445,237...18,530,114
Ensembl chr 3:18,445,024...18,923,280

G

SET domain containing 5

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240

G

SH3 domain binding protein 5

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,254,353...15,341,380
Ensembl chr 3:15,254,353...15,341,368

G

SH3BP5 antisense RNA 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,254,184...15,264,498
Ensembl chr 3:15,254,184...15,264,515

G

solute carrier family 6 member 6

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,402,576...14,489,349
Ensembl chr 3:14,402,576...14,489,349

G

small nucleolar RNA, H/ACA box 93

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,618,381...13,618,548

G

TBC1 domain family member 5

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,157,162...17,742,631
Ensembl chr 3:17,157,162...18,444,817

G

THUMP domain containing 3

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:9,363,054...9,386,791
Ensembl chr 3:9,362,971...9,386,791

G

transmembrane protein 43

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680

G

Wnt family member 7A

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071

G

XPC complex subunit, DNA damage recognition and repair factor

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,145,147...14,178,601
Ensembl chr 3:14,145,147...14,178,621

Al-Raqad Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

decapping enzyme, scavenger

ClinVar Annotator: match by term: Al-Raqad syndrome

PMID:19732863 PMID:21931168 PMID:25701870 PMID:25712129 PMID:25741868 More...

NCBI chr11:126,304,060...126,350,005
Ensembl chr11:126,304,060...126,350,005

G

G-quadruplex forming sequence containing lncRNA

ClinVar Annotator: match by term: Al-Raqad syndrome

PMID:25701870 PMID:25741868 PMID:28492532

NCBI chr11:126,341,716...126,355,587
Ensembl chr11:126,340,882...126,355,587

G

TIRAP antisense RNA 1

ClinVar Annotator: match by term: Al-Raqad syndrome

PMID:19732863 PMID:21931168 PMID:25712129 PMID:25741868 PMID:32623794 More...

NCBI chr11:126,294,296...126,304,322
Ensembl chr11:126,294,296...126,304,323

Amish Lethal Microcephaly

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MIF4GD divergent transcript

ClinVar Annotator: match by term: Amish lethal microcephaly
ClinVar Annotator: match by term: Amish lethal microcephaly | ClinVar Annotator: match by term: Microcephaly, Amish type | ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE)

PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr17:75,271,299...75,273,895
Ensembl chr17:75,271,369...75,273,895

G

solute carrier family 25 member 19

ClinVar Annotator: match by term: Amish lethal microcephaly
ClinVar Annotator: match by term: Amish lethal microcephaly | ClinVar Annotator: match by term: Microcephaly, Amish type | ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE)
ClinVar Annotator: match by term: Amish lethal microcephaly | ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE)
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM

PMID:12185364 PMID:18414213 PMID:19798730 PMID:25741868 PMID:26467025 More...

NCBI chr17:75,272,992...75,289,433
Ensembl chr17:75,272,981...75,289,510

Arboleda-Tham syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lysine acetyltransferase 6A

ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A syndrome | ClinVar Annotator: match by term: KAT6A-related condition
ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A-related neurodevelopmental disorder with multiple anomalies

PMID:17374998 PMID:23431171 PMID:25728775 PMID:25728777 PMID:25741868 More...

NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994

Asparagine Synthetase Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

asparagine synthetase (glutamine-hydrolyzing)

ClinVar Annotator: match by term: Asparagine synthetase deficiency
ClinVar Annotator: match by term: ASNS DEFICIENCY
ClinVar Annotator: match by term: ASNS DEFICIENCY | ClinVar Annotator: match by term: Asparagine synthetase deficiency
ClinVar Annotator: match by term: ASNS DEFICIENCY | ClinVar Annotator: match by term: ASNS-related condition | ClinVar Annotator: match by term: Asparagine synthetase deficiency

PMID:16199547 PMID:24139043 PMID:25227173 PMID:25663424 PMID:25741868 More...

NCBI chr 7:97,851,677...97,928,441
Ensembl chr 7:97,851,677...97,872,542

G

CZ1P-ASNS readthrough

ClinVar Annotator: match by term: Asparagine synthetase deficiency
ClinVar Annotator: match by term: ASNS DEFICIENCY | ClinVar Annotator: match by term: Asparagine synthetase deficiency
ClinVar Annotator: match by term: ASNS DEFICIENCY | ClinVar Annotator: match by term: ASNS-related condition | ClinVar Annotator: match by term: Asparagine synthetase deficiency

PMID:16199547 PMID:24139043 PMID:25227173 PMID:25663424 PMID:25741868 More...

NCBI chr 7:97,852,117...97,972,358

Autosomal Dominant Intellectual Developmental Disorder 63 with Macrocephaly

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:14406263-14407462

ClinVar Annotator: match by term: TRIO-related condition

NCBI chr 5:14,406,154...14,407,353

G

CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:14497716-14498915

ClinVar Annotator: match by term: TRIO-related condition
ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | ClinVar Annotator: match by term: TRIO-related condition
ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY

PMID:25741868 PMID:26721934 PMID:28492532

NCBI chr 5:14,497,607...14,498,806

G

trio Rho guanine nucleotide exchange factor

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY | ClinVar Annotator: match by term: TRIO-related condition

PMID:22495306 PMID:25363768 PMID:25741868 PMID:26721934 PMID:27418539 More...

NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128

Bannayan-Riley-Ruvalcaba syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Cowden syndrome 1

NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628

G

killin, p53 regulated DNA replication inhibitor

ClinVar Annotator: match by term: Cowden syndrome 1

PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21194675 More...

NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533

G

ATAC-STARR-seq lymphoblastoid silent region 2585

ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome

PMID:2338203 PMID:9467011 PMID:12844284 PMID:12938083 PMID:16773562 More...

NCBI chr10:87,863,380...87,863,689

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

ClinVar Annotator: match by term: Cowden syndrome 1

PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 More...

NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093

G

phosphatase and tensin homolog

susceptibility

ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1
OMIM:158350

ClinVar
OMIM
MouseDO

PMID:1097835 PMID:1336932 PMID:1945792 PMID:2333580 PMID:2338203 More...

NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930

G

succinate dehydrogenase complex iron sulfur subunit B

ClinVar Annotator: match by term: Cowden syndrome 1

PMID:19802898 PMID:20923864 PMID:21979946 PMID:23072324 PMID:23512077 More...

NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151

Baralle-Macken Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

COPI coat complex subunit beta 1

ClinVar Annotator: match by term: Baralle-Macken syndrome

PMID:25741868 PMID:33632302

NCBI chr11:14,457,512...14,499,811
Ensembl chr11:14,443,440...14,500,027

Basel-Vanagaite-Smirin-Yosef syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mediator complex subunit 25

ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome

PMID:25488817 PMID:25527630 PMID:25741868 PMID:25792360 PMID:28170084 More...

NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383

Beaulieu-Boycott-Innes Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibrillin 1

ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome

PMID:15241795 PMID:16571647 PMID:16905551 PMID:17701892 PMID:18435798 More...

NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721

G

THO complex subunit 6

ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome | ClinVar Annotator: match by term: Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations
ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome | ClinVar Annotator: match by term: THOC6-related condition

PMID:16199547 PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 More...

NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755

Bloom syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha and gamma adaptin binding protein

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:67,200,667...67,255,198
Ensembl chr15:67,200,667...67,255,195

G

abhydrolase domain containing 17C, depalmitoylase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:80,695,310...80,755,621
Ensembl chr15:80,679,684...80,755,621

G

abhydrolase domain containing 2, acylglycerol lipase

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr15:89,040,998...89,202,355
Ensembl chr15:89,087,459...89,202,355

G

aggrecan

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353

G

acyl-CoA synthetase bubblegum family member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:78,167,468...78,234,565
Ensembl chr15:78,167,468...78,245,688

G

actin alpha cardiac muscle 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589

G

adenosine deaminase like

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:43,330,351...43,354,569
Ensembl chr15:43,330,672...43,354,569

G

ADAM metallopeptidase domain 10

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:58,588,809...58,749,707
Ensembl chr15:58,588,809...58,749,791

G

ADAM metallopeptidase with thrombospondin type 1 motif 7

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:78,759,206...78,811,464
Ensembl chr15:78,759,206...78,811,464

G

ADAMTS like 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:83,654,123...84,039,842
Ensembl chr15:83,654,088...84,039,842

G

ADP dependent glucokinase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:72,751,294...72,783,758
Ensembl chr15:72,751,294...72,785,846

G

apoptosis enhancing nuclease

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:88,604,683...88,632,281
Ensembl chr15:88,621,337...88,632,281

G

AFG2 AAA ATPase homolog B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:45,402,336...45,421,415
Ensembl chr15:45,402,336...45,421,415

G

AGBL carboxypeptidase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:86,079,620...87,031,476
Ensembl chr15:86,079,871...87,049,169

G

A-kinase anchoring protein 13

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:85,380,603...85,749,358
Ensembl chr15:85,380,571...85,749,358

G

aldehyde dehydrogenase 1 family member A2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:57,953,429...58,065,711
Ensembl chr15:57,953,424...58,497,866

G

alpha kinase 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:84,817,356...84,873,479
Ensembl chr15:84,817,356...84,873,479

G

ankyrin repeat and death domain containing 1A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:64,911,902...64,958,691
Ensembl chr15:64,911,902...64,958,691

G

ankyrin repeat domain 34C

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:79,282,722...79,298,239
Ensembl chr15:79,282,722...79,298,239

G

ankyrin repeat domain 63

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,278,372...40,283,064
Ensembl chr15:40,278,372...40,283,064

G

acidic nuclear phosphoprotein 32 family member A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:68,778,535...68,820,895
Ensembl chr15:68,778,535...68,820,897

G

alanyl aminopeptidase, membrane

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr15:89,784,895...89,814,852
Ensembl chr15:89,784,895...89,815,401

G

annexin A2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:60,347,151...60,397,986
Ensembl chr15:60,347,134...60,402,883

G

adaptor related protein complex 3 subunit beta 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:82,659,281...82,709,875
Ensembl chr15:82,659,281...82,710,112

G

adaptor related protein complex 3 subunit sigma 2

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr15:89,830,599...89,893,994
Ensembl chr15:89,830,599...89,894,638

G

adaptor related protein complex 4 subunit epsilon 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895

G

aph-1 homolog B, gamma-secretase subunit

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:63,277,605...63,309,126
Ensembl chr15:63,276,018...63,309,126

G

aquaporin 9

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:58,138,169...58,185,911
Ensembl chr15:58,138,169...58,185,911

G

aquarius intron-binding spliceosomal factor

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:34,851,782...34,969,742
Ensembl chr15:34,851,782...34,969,742

G

AT-rich interaction domain 3B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:74,541,220...74,598,131
Ensembl chr15:74,541,206...74,598,131

G

ariadne RBR E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:72,474,330...72,602,987
Ensembl chr15:72,474,330...72,602,987

G

aryl hydrocarbon receptor nuclear translocator 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933

G

actin related protein 2/3 complex inhibitor

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr15:89,895,006...89,912,952
Ensembl chr15:89,895,006...89,912,952

G

ARPIN-AP3S2 readthrough

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr15:89,830,599...89,912,952
Ensembl chr15:89,834,308...89,912,882

G

cAMP regulated phosphoprotein 19

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:52,547,045...52,569,446
Ensembl chr15:52,547,045...52,569,883

G

atos homolog A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:52,581,321...52,709,815
Ensembl chr15:52,581,317...52,709,817

G

ATPase phospholipid transporting 8B4 (putative)

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:49,858,238...50,181,854
Ensembl chr15:49,858,238...50,182,817

G

apoptosis and caspase activation inhibitor

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:33,851,781...34,075,325
Ensembl chr15:33,858,782...34,075,155

G

beta-2-microglobulin

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851

G

bromo adjacent homology domain containing 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,437,452...40,468,236
Ensembl chr15:40,439,721...40,468,236

G

Bardet-Biedl syndrome 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,179...72,738,475

G

BCL2 related protein A1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:79,960,892...79,971,196
Ensembl chr15:79,960,892...79,971,196

G

BCL2 like 10

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:52,109,263...52,112,775
Ensembl chr15:52,109,263...52,112,775

G

BLM RecQ like helicase

ClinVar Annotator: match by term: Bloom syndrome
ClinVar Annotator: match by term: Bloom syndrome | ClinVar Annotator: match by term: Bloom-Torre-Machacek syndrome
OMIM:210900
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:2678854 PMID:7585968 PMID:7799980 PMID:9285778 PMID:9388480 More...

RGD:1599420, RGD:1580056

NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166

G

biogenesis of lysosomal organelles complex 1 subunit 6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:45,587,123...45,609,716
Ensembl chr15:45,587,214...45,615,945

G

Bcl2 modifying factor

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,087,890...40,108,879
Ensembl chr15:40,087,890...40,108,892

G

basonuclin zinc finger protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:83,255,884...83,284,664
Ensembl chr15:83,255,884...83,284,664

G

BCL2 interacting protein 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:59,659,146...59,689,320
Ensembl chr15:59,659,146...59,689,339

G

BTB domain containing 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:83,016,423...83,067,252
Ensembl chr15:83,016,423...83,067,252

G

BUB1 mitotic checkpoint serine/threonine kinase B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123

G

chromosome 15 open reading frame 39

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:75,198,889...75,212,169
Ensembl chr15:75,195,643...75,212,169

G

chromosome 15 open reading frame 40

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:82,988,963...83,011,639
Ensembl chr15:82,988,441...83,011,641

G

chromosome 15 open reading frame 48

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:45,430,610...45,433,340
Ensembl chr15:45,430,579...45,448,761

G

chromosome 15 open reading frame 61

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:67,521,131...67,530,146
Ensembl chr15:67,521,131...67,530,146

G

chromosome 15 open reading frame 62

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,769,980...40,772,449
Ensembl chr15:40,769,980...40,772,449

G

C2 calcium dependent domain containing 4A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:62,066,977...62,070,917
Ensembl chr15:62,066,977...62,070,917

G

C2 calcium dependent domain containing 4B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:62,163,535...62,165,285
Ensembl chr15:62,163,535...62,165,285

G

carbonic anhydrase 12

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:63,321,378...63,381,846
Ensembl chr15:63,321,378...63,381,846

G

calmodulin like 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:68,190,705...68,206,110
Ensembl chr15:68,190,705...68,206,079

G

calpain 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949

G

cation channel sperm associated 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:43,628,503...43,648,884
Ensembl chr15:43,628,503...43,668,118

G

coiled-coil domain containing 32

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,520,993...40,565,042
Ensembl chr15:40,528,683...40,565,054

G

coiled-coil domain containing 33

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:74,202,999...74,336,472
Ensembl chr15:74,202,705...74,336,472

G

coiled-coil domain containing 9B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,331,452...40,340,939
Ensembl chr15:40,331,452...40,340,939

G

cyclin B2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:59,105,146...59,125,045
Ensembl chr15:59,105,126...59,125,045

G

cyclin D1 binding protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:43,185,403...43,197,177
Ensembl chr15:43,185,118...43,197,177

G

cell cycle progression 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:55,355,239...55,408,359
Ensembl chr15:55,340,032...55,408,510

G

CD276 molecule

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:73,683,944...73,714,514
Ensembl chr15:73,683,966...73,714,514

G

codanin 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:42,723,544...42,737,128
Ensembl chr15:42,723,544...42,737,128

G

CDAN1 interacting nuclease 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:36,579,626...36,810,244
Ensembl chr15:36,579,626...36,810,248

G

CUGBP Elav-like family member 6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:72,284,727...72,320,157
Ensembl chr15:72,284,727...72,320,157

G

cell migration inducing hyaluronidase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:80,779,370...80,951,771
Ensembl chr15:80,779,343...80,951,776

G

centrosomal protein 152

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146

G

cilia and flagella associated protein 161

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:81,099,408...81,149,179
Ensembl chr15:81,007,033...81,149,179

G

cingulin like 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:57,376,505...57,550,717
Ensembl chr15:57,375,967...57,550,717

G

ChaC glutathione specific gamma-glutamylcyclotransferase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,953,471...40,956,512
Ensembl chr15:40,952,962...40,956,512

G

calcineurin like EF-hand protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:41,231,268...41,281,887
Ensembl chr15:41,230,839...41,281,887

G

cholinergic receptor muscarinic 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:33,968,497...34,067,458
Ensembl chr15:33,968,497...34,067,458

G

cholinergic receptor nicotinic alpha 3 subunit

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:78,593,052...78,620,996
Ensembl chr15:78,593,052...78,621,295

G

cholinergic receptor nicotinic alpha 5 subunit

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:78,565,520...78,595,269
Ensembl chr15:78,565,520...78,595,269

G

cholinergic receptor nicotinic beta 4 subunit

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:78,624,111...78,661,641
Ensembl chr15:78,624,111...78,727,754

G

carbohydrate sulfotransferase 14

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158

G

cytosolic iron-sulfur assembly component 2A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:64,072,565...64,093,838
Ensembl chr15:64,072,565...64,094,262

G

calcium and integrin binding 1

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr15:90,229,975...90,265,759
Ensembl chr15:90,229,975...90,234,047

G

calcium and integrin binding family member 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535

G

cartilage intermediate layer protein

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:65,194,760...65,211,473
Ensembl chr15:65,194,760...65,211,473

G

ciliary microtubule associated protein 1C

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:75,724,041...75,727,688
Ensembl chr15:75,724,041...75,727,688

G

creatine kinase, mitochondrial 1A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:43,692,786...43,699,222
Ensembl chr15:43,692,886...43,699,222
Ensembl chr15:43,692,886...43,699,222

G

creatine kinase, mitochondrial 1B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:43,592,857...43,599,406
Ensembl chr15:43,593,054...43,604,901
Ensembl chr15:43,593,054...43,604,901

G

CDC like kinase 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:74,608,372...74,630,201
Ensembl chr15:74,598,500...74,645,414

G

CLN6 transmembrane ER protein

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:68,206,992...68,257,211
Ensembl chr15:68,206,992...68,257,211

G

caseinolytic mitochondrial matrix peptidase chaperone subunit X

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:65,148,219...65,185,342
Ensembl chr15:65,148,219...65,185,342

G

COMM domain containing 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:75,336,063...75,343,227
Ensembl chr15:75,336,020...75,343,224

G

COP9 signalosome subunit 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:49,122,727...49,155,599
Ensembl chr15:49,106,068...49,155,661

G

coronin 2B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:68,518,373...68,727,806
Ensembl chr15:68,578,993...68,727,806

G

cytochrome c oxidase subunit 5A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:74,919,791...74,938,073
Ensembl chr15:74,919,791...74,938,083

G

cytoplasmic polyadenylation element binding protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:82,543,201...82,648,795
Ensembl chr15:82,543,201...82,648,861

G

complexin 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:74,826,627...74,831,802
Ensembl chr15:74,826,627...74,831,802

G

cellular retinoic acid binding protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:78,340,353...78,348,225
Ensembl chr15:78,340,353...78,348,225

G

CREB regulated transcription coactivator 3

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr15:90,529,923...90,645,345
Ensembl chr15:90,529,923...90,645,345

G

C-terminal Src kinase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:74,782,080...74,803,197
Ensembl chr15:74,782,080...74,803,197

G

casein kinase 1 gamma 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:64,165,525...64,356,173
Ensembl chr15:64,165,525...64,356,173

G

chondroitin sulfate proteoglycan 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:75,674,322...75,713,466
Ensembl chr15:75,674,322...75,712,848

G

cancer/testis associated 62

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:71,110,244...71,115,504
Ensembl chr15:71,110,244...71,115,494

G

CTD small phosphatase like 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:44,427,629...44,529,038
Ensembl chr15:44,427,622...44,529,038

G

cathepsin H

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:78,921,058...78,945,046
Ensembl chr15:78,921,058...78,949,574

G

cortexin 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:48,178,438...48,203,758
Ensembl chr15:48,178,122...48,203,758

G

cytochrome P450 family 11 subfamily A member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646

G

cytochrome P450 family 19 subfamily A member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601

G

cytochrome P450 family 1 subfamily A member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536

G

cytochrome P450 family 1 subfamily A member 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:74,748,845...74,756,607
Ensembl chr15:74,748,845...74,756,607

G

death associated protein kinase 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:63,907,036...64,046,485
Ensembl chr15:63,907,036...64,072,033

G

DENN domain containing 4A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:65,659,123...65,792,293
Ensembl chr15:65,658,046...65,792,293

G

DET1 partner of COP1 E3 ubiquitin ligase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:88,501,919...88,546,703
Ensembl chr15:88,494,440...88,546,681

G

DIS3 like exosome 3'-5' exoribonuclease

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:66,293,309...66,333,898
Ensembl chr15:66,293,217...66,333,898

G

dispatched RND transporter family member 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,358,219...40,378,621
Ensembl chr15:40,358,219...40,378,621

G

delta like canonical Notch ligand 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073

G

Dmx like 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833

G

dynein axonemal assembly factor 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234

G

DnaJ heat shock protein family (Hsp40) member A4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:78,264,145...78,282,191
Ensembl chr15:78,264,086...78,282,196

G

DnaJ heat shock protein family (Hsp40) member C17

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,765,161...40,807,473
Ensembl chr15:40,765,161...40,807,478

G

diphthamine biosynthesis 6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:35,144,977...35,546,165
Ensembl chr15:35,217,345...35,546,193

G

dipeptidyl peptidase 8

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:65,442,467...65,517,689
Ensembl chr15:65,442,463...65,517,704

G

DTW domain containing 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:49,621,048...49,656,232
Ensembl chr15:49,621,037...49,656,232

G

dual oxidase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:45,129,994...45,165,574
Ensembl chr15:45,129,933...45,165,576

G

dual oxidase 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172

G

dual oxidase maturation factor 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:45,117,366...45,129,879
Ensembl chr15:45,117,366...45,129,938

G

dual oxidase maturation factor 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:45,114,326...45,118,421
Ensembl chr15:45,114,326...45,118,421

G

deoxyuridine triphosphatase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:48,331,095...48,343,373
Ensembl chr15:48,331,011...48,343,373

G

enhancer of mRNA decapping 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:74,630,558...74,696,024
Ensembl chr15:74,630,558...74,696,292

G

elongation factor like GTPase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773

G

EH domain containing 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:41,895,933...41,972,557
Ensembl chr15:41,895,933...41,972,557

G

EP300 interacting inhibitor of differentiation 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:48,878,134...48,880,173
Ensembl chr15:48,878,134...48,880,173

G

eukaryotic translation initiation factor 2 alpha kinase 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591

G

eukaryotic translation initiation factor 3 subunit J

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:44,537,147...44,562,803
Ensembl chr15:44,537,125...44,563,029

G

elongation factor for RNA polymerase II 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:43,772,620...43,776,966
Ensembl chr15:43,772,605...43,777,315

G

ER membrane protein complex subunit 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:34,225,016...34,230,156
Ensembl chr15:34,225,013...34,230,156

G

ER membrane protein complex subunit 7

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:34,084,017...34,101,862
Ensembl chr15:34,084,017...34,101,862

G

erythrocyte membrane protein band 4.2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018

G

electron transfer flavoprotein subunit alpha

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:76,215,353...76,311,469
Ensembl chr15:76,188,555...76,311,730

G

exonuclease 3'-5' domain containing 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:41,182,728...41,230,757
Ensembl chr15:41,182,725...41,230,757

G

fumarylacetoacetate hydrolase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946

G

family with sequence similarity 219 member B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:74,897,963...74,906,851
Ensembl chr15:74,899,992...74,906,883

G

family with sequence similarity 227 member B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:49,326,970...49,620,818
Ensembl chr15:49,326,962...49,620,929

G

family with sequence similarity 81 member A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:59,397,981...59,523,555
Ensembl chr15:59,372,693...59,523,555

G

family with sequence similarity 98 member B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:38,454,127...38,487,710
Ensembl chr15:38,454,127...38,487,710

G

FA complementation group I

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261

G

fibrillin 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721

G

F-box and leucine rich repeat protein 22

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:63,597,387...63,608,516
Ensembl chr15:63,597,353...63,602,428

G

F-box protein 22

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:75,903,878...75,942,511
Ensembl chr15:75,903,876...75,942,511

G

fem-1 homolog B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:68,277,745...68,295,862
Ensembl chr15:68,277,745...68,295,862

G

FES proto-oncogene, tyrosine kinase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:90,884,504...90,895,776
Ensembl chr15:90,883,695...90,895,776

G

fibroblast growth factor 7

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:49,423,242...49,488,775
Ensembl chr15:49,423,237...49,488,775

G

forkhead box B1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:60,004,311...60,007,444
Ensembl chr15:60,004,234...60,061,730

G

FERM domain containing 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:43,870,764...44,199,473
Ensembl chr15:43,870,761...44,195,271

G

fibronectin type III and SPRY domain containing 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:82,755,362...82,806,069
Ensembl chr15:82,755,362...82,806,070

G

fibrous sheath interacting protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:39,597,440...39,782,841
Ensembl chr15:39,588,357...39,782,841

G

furin, paired basic amino acid cleaving enzyme

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:90,868,588...90,883,457
Ensembl chr15:90,868,588...90,883,564

G

GA binding protein transcription factor subunit beta 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:50,275,389...50,355,198
Ensembl chr15:50,275,389...50,355,408

G

galactokinase 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:49,155,774...49,367,740
Ensembl chr15:49,155,656...49,367,869

G

glucosidase alpha, neutral C

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:42,273,201...42,353,666
Ensembl chr15:42,273,201...42,353,666

G

glycine amidinotransferase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327

G

GTP cyclohydrolase I feedback regulator

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,764,068...40,767,708
Ensembl chr15:40,764,068...40,767,708

G

glucosaminyl (N-acetyl) transferase 3, mucin type

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:59,611,783...59,622,723
Ensembl chr15:59,594,875...59,640,239

G

GDP-D-glucose phosphorylase 1

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr15:90,234,209...90,245,811
Ensembl chr15:90,233,808...90,245,811

G

gap junction protein delta 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:34,751,032...34,754,998
Ensembl chr15:34,751,032...34,754,998

G

glucuronic acid epimerase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:69,160,635...69,272,207
Ensembl chr15:69,160,584...69,272,217

G

gliomedin

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,655...51,408,005

G

G protein subunit beta 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:52,115,100...52,191,392
Ensembl chr15:52,115,100...52,191,392

G

golgin A6 family member A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:74,069,857...74,082,550
Ensembl chr15:74,069,857...74,082,550

G

golgin A6 family member B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:72,654,697...72,669,599
Ensembl chr15:72,654,697...72,669,599

G

golgin A6 family member C

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:75,258,334...75,273,455
Ensembl chr15:75,258,334...75,273,455

G

golgin A6 family member D

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:75,276,127...75,295,530
Ensembl chr15:75,282,835...75,295,530

G

golgin A8 family member A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:34,379,068...34,437,808
Ensembl chr15:34,378,935...34,437,808

G

golgin A8 family member B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:34,525,095...34,583,651
Ensembl chr15:34,525,095...34,588,503

G

golgi membrane protein 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:44,288,719...44,415,758
Ensembl chr15:44,288,719...44,415,758

G

G protein-coupled receptor 176

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:39,799,008...39,920,266
Ensembl chr15:39,799,008...39,920,936

G

GRAM domain containing 2A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:72,159,806...72,197,787
Ensembl chr15:72,159,806...72,197,787

G

gremlin 1, DAN family BMP antagonist

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:32,718,004...32,745,106
Ensembl chr15:32,718,004...32,745,106

G

general transcription factor IIA subunit 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:59,638,062...59,657,515
Ensembl chr15:59,638,062...59,657,541

G

3-hydroxyacyl-CoA dehydratase 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:65,530,463...65,578,349
Ensembl chr15:65,530,418...65,578,349

G

hyaluronan and proteoglycan link protein 3

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr15:88,877,294...88,895,544
Ensembl chr15:88,877,294...88,895,597

G

HAUS augmin like complex subunit 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:42,548,838...42,569,994
Ensembl chr15:42,548,828...42,569,994

G

hyperpolarization activated cyclic nucleotide gated potassium channel 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958

G

histidine decarboxylase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:50,241,947...50,265,726
Ensembl chr15:50,241,947...50,265,965

G

HD domain containing 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:90,929,968...90,932,569
Ensembl chr15:90,929,968...90,935,196

G

HECT and RLD domain containing E3 ubiquitin protein ligase family member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948

G

hexosaminidase subunit alpha

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:72,340,924...72,376,014
Ensembl chr15:72,340,924...72,376,420

G

high mobility group 20A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:77,420,888...77,520,050
Ensembl chr15:77,420,412...77,485,607

G

homer scaffold protein 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:82,834,661...82,986,157
Ensembl chr15:82,836,946...82,986,153

G

hydroxylysine kinase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:78,507,577...78,537,373
Ensembl chr15:78,507,564...78,537,372

G

huntingtin interacting protein K

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:43,800,421...43,804,427
Ensembl chr15:43,796,142...43,804,427

G

interactor of little elongation complex ELL subunit 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:60,419,609...60,479,142
Ensembl chr15:60,419,609...60,479,160

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477

G

isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:78,149,362...78,171,945
Ensembl chr15:78,131,498...78,171,945

G

immunoglobulin superfamily DCC subclass member 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:65,327,127...65,378,002
Ensembl chr15:65,327,127...65,378,002

G

immunoglobulin superfamily DCC subclass member 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:65,381,484...65,422,947
Ensembl chr15:65,381,484...65,422,947

G

interleukin 16

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:81,182,712...81,314,058
Ensembl chr15:81,159,575...81,314,058

G

IMP U3 small nucleolar ribonucleoprotein 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:75,639,093...75,640,224
Ensembl chr15:75,639,085...75,648,706

G

INO80 complex ATPase subunit

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,978,880...41,116,280
Ensembl chr15:40,978,880...41,116,280

G

inhibitory synaptic factor 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:73,735,458...73,753,351
Ensembl chr15:73,735,458...73,753,351

G

integrator complex subunit 14

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:65,578,757...65,611,131
Ensembl chr15:65,578,753...65,611,289

G

IQ motif containing H

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:67,254,786...67,501,804
Ensembl chr15:67,254,786...67,502,260

G

IQ motif containing GTPase activating protein 1

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr15:90,388,242...90,502,239
Ensembl chr15:90,388,242...90,502,239

G

iron responsive element binding protein 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:78,437,431...78,501,453
Ensembl chr15:78,437,431...78,501,453

G

interferon stimulated exonuclease gene 20

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:88,635,632...88,656,483
Ensembl chr15:88,635,670...88,656,483

G

ISL LIM homeobox 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:76,336,773...76,342,475
Ensembl chr15:76,336,773...76,342,475

G

immunoglobulin superfamily containing leucine rich repeat

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:74,173,710...74,176,871
Ensembl chr15:74,173,710...74,176,872

G

immunoglobulin superfamily containing leucine rich repeat 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:74,100,318...74,141,826
Ensembl chr15:74,100,311...74,138,540

G

integrin subunit alpha 11

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:68,296,532...68,432,163
Ensembl chr15:68,296,532...68,432,163

G

inositol-trisphosphate 3-kinase A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:41,493,874...41,503,551
Ensembl chr15:41,493,393...41,503,551

G

isovaleryl-CoA dehydrogenase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,405,795...40,435,947
Ensembl chr15:40,405,485...40,435,947

G

jumonji domain containing 7

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:41,828,092...41,837,581
Ensembl chr15:41,828,092...41,837,581

G

katanin regulatory subunit B1 like 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:34,140,674...34,210,096
Ensembl chr15:34,140,674...34,210,096

G

kelch repeat and BTB domain containing 13

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:65,076,746...65,079,948
Ensembl chr15:65,076,746...65,079,948

G

kinesin family member 23

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:69,414,349...69,448,427
Ensembl chr15:69,414,246...69,448,427

G

kinesin family member 7

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086

G

kelch like family member 25

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:85,759,326...85,794,925
Ensembl chr15:85,759,326...85,794,925

G

kinetochore scaffold 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,594,249...40,664,342
Ensembl chr15:40,594,020...40,664,342

G

kinetochore localized astrin (SPAG5) binding protein

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288

G

lactamase beta

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:63,121,861...63,142,061
Ensembl chr15:63,121,833...63,142,061

G

La ribonucleoprotein 6, translational regulator

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:70,829,130...70,854,157
Ensembl chr15:70,829,130...70,854,157

G

leucine carboxyl methyltransferase 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:43,323,649...43,330,573
Ensembl chr15:43,323,649...43,330,582

G

lactase like

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:66,547,532...66,565,998
Ensembl chr15:66,547,179...66,565,998

G

lactate dehydrogenase A like 6B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:59,206,843...59,208,588
Ensembl chr15:59,206,843...59,208,588

G

LEO1 homolog, Paf1/RNA polymerase II complex component

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:51,938,025...51,971,778
Ensembl chr15:51,938,025...51,971,778

G

long intergenic non-protein coding RNA 928

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr15:89,504,930...89,524,034
Ensembl chr15:89,504,909...89,524,049

G

long intergenic non-protein coding RNA 2694

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:38,696,598...38,700,038
Ensembl chr15:38,628,005...39,180,499

G

long intergenic non-protein coding RNA 2915

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:39,250,669...39,254,845
Ensembl chr15:39,250,682...39,254,845

G

leucine rich repeat and Ig domain containing 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:77,613,027...77,820,900
Ensembl chr15:77,613,027...77,820,900

G

lipase C, hepatic type

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:58,431,991...58,569,844
Ensembl chr15:58,410,569...58,569,844

G

lectin, mannose binding 1 like

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:74,812,835...74,825,754
Ensembl chr15:74,812,716...74,825,757

G

ATAC-STARR-seq lymphoblastoid silent region 6827

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:90,814,677...90,814,786

G

lysyl oxidase like 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:73,926,462...73,952,136
Ensembl chr15:73,925,989...73,952,137

G

lysophosphatidylcholine acyltransferase 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:34,358,633...34,367,196
Ensembl chr15:34,358,633...34,367,196

G

leucine rich repeat containing 49

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:70,853,378...71,053,658
Ensembl chr15:70,853,239...71,053,658

G

leucine rich repeat containing 57

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:42,528,327...42,548,793
Ensembl chr15:42,537,820...42,548,802

G

leukocyte receptor tyrosine kinase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:41,503,637...41,513,827
Ensembl chr15:41,503,637...41,513,887

G

LysM domain containing 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:51,723,011...51,751,451
Ensembl chr15:51,723,011...51,751,585

G

mannosidase alpha class 2A member 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:90,902,382...90,922,585
Ensembl chr15:90,902,218...90,922,584

G

mannosidase alpha class 2C member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:75,355,792...75,368,607
Ensembl chr15:75,355,207...75,368,612

G

microtubule associated protein 1A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:43,510,954...43,531,611
Ensembl chr15:43,510,958...43,531,620

G

mitogen-activated protein kinase kinase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656

G

mitogen-activated protein kinase kinase 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:67,542,703...67,807,114
Ensembl chr15:67,542,703...67,807,117

G

mitogen-activated protein kinase 6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:51,971,825...52,067,375
Ensembl chr15:51,952,106...52,067,375

G

mitogen-activated protein kinase binding protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:41,774,484...41,827,855
Ensembl chr15:41,774,434...41,827,855

G

multiple EGF like domains 11

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:65,895,299...66,253,750
Ensembl chr15:65,895,079...66,253,756

G

Meis homeobox 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299

G

mesoderm development LRP chaperone

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:80,946,289...80,989,819
Ensembl chr15:80,946,289...80,989,828

G

mesoderm posterior bHLH transcription factor 1

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr15:89,732,446...89,751,249
Ensembl chr15:89,749,875...89,751,249

G

mesoderm posterior bHLH transcription factor 2

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr15:89,776,332...89,778,754
Ensembl chr15:89,760,591...89,778,754

G

mex-3 RNA binding family member B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:82,041,778...82,046,018
Ensembl chr15:82,041,778...82,046,119

G

microfibril associated protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:43,804,492...43,824,690
Ensembl chr15:43,804,492...43,824,690

G

milk fat globule EGF and factor V/VIII domain containing

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr15:88,898,683...88,913,379
Ensembl chr15:88,898,683...88,913,468

G

MAX dimerization protein MGA

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:41,621,224...41,769,940
Ensembl chr15:41,621,134...41,773,081

G

membrane integral NOTCH2 associated receptor 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:79,411,400...79,472,304
Ensembl chr15:79,432,336...79,472,304

G

MINDY lysine 48 deubiquitinase 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:58,771,302...58,861,900
Ensembl chr15:58,771,192...58,861,900

G

microRNA 184

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:79,209,788...79,209,871
Ensembl chr15:79,209,788...79,209,871

G

microRNA 9-3

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr15:89,368,017...89,368,106
Ensembl chr15:89,368,017...89,368,106

G

meiosis specific nuclear structural 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:56,428,724...56,465,137
Ensembl chr15:56,421,544...56,465,137

G

mortality factor 4 like 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:78,872,890...78,898,139
Ensembl chr15:78,810,487...78,898,139

G

mannose phosphate isomerase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:74,890,042...74,902,219
Ensembl chr15:74,890,005...74,902,219

G

mitochondrial ribosomal protein L46

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:88,459,478...88,467,388
Ensembl chr15:88,459,477...88,467,390

G

mitochondrial ribosomal protein S11

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:88,467,708...88,480,776
Ensembl chr15:88,467,453...88,480,776

G

mitochondrial methionyl-tRNA formyltransferase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:65,001,512...65,029,639
Ensembl chr15:65,001,512...65,029,639

G

methenyltetrahydrofolate synthetase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:79,843,547...79,897,285
Ensembl chr15:79,833,585...79,897,379

G

myelin expression factor 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:48,134,632...48,178,295
Ensembl chr15:48,134,632...48,178,353

G

myosin IE

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:59,132,434...59,372,871
Ensembl chr15:59,132,434...59,372,871

G

myosin VA

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:52,307,283...52,529,050
Ensembl chr15:52,307,281...52,529,132

G

myosin VC

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:52,192,322...52,295,804
Ensembl chr15:52,192,322...52,295,804

G

myosin IXA

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577

G

myocardial zonula adherens protein

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:57,591,904...57,685,364
Ensembl chr15:57,591,904...57,685,364

G

NADH:ubiquinone oxidoreductase complex assembly factor 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:41,387,353...41,403,026
Ensembl chr15:41,387,218...41,409,403

G

NEDD4 E3 ubiquitin protein ligase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:55,826,917...55,993,612
Ensembl chr15:55,826,922...55,993,660

G

nei like DNA glycosylase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:75,347,039...75,357,115
Ensembl chr15:75,346,955...75,357,115

G

neogenin 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:73,051,692...73,305,206
Ensembl chr15:73,051,710...73,305,205

G

neugrin, neurite outgrowth associated

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr15:90,265,663...90,272,211
Ensembl chr15:90,265,659...90,275,778

G

neuromedin B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:84,655,132...84,658,199
Ensembl chr15:84,655,129...84,658,563

G

NOP10 ribonucleoprotein

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180

G

NADPH oxidase 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:69,014,695...69,062,762
Ensembl chr15:69,014,695...69,062,762
Ensembl chr15:69,014,695...69,062,762

G

neuroplastin

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:73,560,014...73,633,389
Ensembl chr15:73,560,014...73,634,134

G

nuclear receptor subfamily 2 group E member 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:71,810,554...71,818,253
Ensembl chr15:71,792,638...71,818,259

G

neuregulin 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:75,935,393...76,060,240
Ensembl chr15:75,935,969...76,059,795

G

NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase

OMIM:210900

NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,679...125,367,120

G

neurotrophic receptor tyrosine kinase 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:87,859,751...88,256,739
Ensembl chr15:87,859,751...88,256,791

G

nucleolar and spindle associated protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:41,332,881...41,381,046
Ensembl chr15:41,320,794...41,381,050

G

NUT midline carcinoma family member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:34,343,315...34,357,735
Ensembl chr15:34,343,315...34,357,737

G

ornithine decarboxylase antizyme 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:64,687,574...64,703,281
Ensembl chr15:64,687,573...64,703,281

G

Opa interacting protein 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:41,309,273...41,332,591
Ensembl chr15:41,309,273...41,332,591

G

one cut homeobox 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:52,755,053...52,790,336
Ensembl chr15:52,755,053...52,791,078

G

p21 (RAC1) activated kinase 6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,239,063...40,277,487
Ensembl chr15:40,217,428...40,277,487

G

PAK6 antisense RNA 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,250,664...40,252,959
Ensembl chr15:40,250,664...40,252,969

G

progestin and adipoQ receptor family member 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:69,298,912...69,407,780
Ensembl chr15:69,298,912...69,407,780

G

poly(ADP-ribose) polymerase family member 16

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:65,230,917...65,286,883
Ensembl chr15:65,234,460...65,300,618

G

poly(ADP-ribose) polymerase family member 6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:72,241,181...72,272,554
Ensembl chr15:72,241,181...72,272,999

G

PAT1 homolog 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:44,665,732...44,711,390
Ensembl chr15:44,665,732...44,711,323

G

PCNA clamp associated factor

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:64,364,304...64,387,687
Ensembl chr15:64,364,304...64,387,687

G

programmed cell death 7

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:65,117,379...65,133,808
Ensembl chr15:65,117,379...65,133,808

G

phosphodiesterase 8A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:84,980,467...85,139,142
Ensembl chr15:84,980,440...85,139,145

G

protein disulfide isomerase family A member 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:43,746,438...43,773,278
Ensembl chr15:43,746,394...43,773,279

G

pseudopodium enriched atypical kinase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:77,100,654...77,420,914
Ensembl chr15:77,100,656...77,420,144

G

peroxisomal biogenesis factor 11 alpha

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr15:89,681,535...89,690,754
Ensembl chr15:89,677,764...89,690,783

G

piggyBac transposable element derived 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:34,102,083...34,108,686
Ensembl chr15:34,102,083...34,108,686

G

proline, histidine and glycine rich 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,351,033...40,356,434
Ensembl chr15:40,351,033...40,356,434

G

protein inhibitor of activated STAT 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:68,054,315...68,193,847
Ensembl chr15:68,054,309...68,198,603

G

piercer of microtubule wall 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:55,408,495...55,418,798
Ensembl chr15:55,408,495...55,418,798

G

PIF1 5'-to-3' DNA helicase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:64,815,632...64,827,062
Ensembl chr15:64,815,632...64,825,668

G

phosphatidylinositol glycan anchor biosynthesis class B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:55,319,222...55,355,648
Ensembl chr15:55,318,960...55,355,648

G

pyruvate kinase M1/2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:72,199,029...72,231,591
Ensembl chr15:72,199,029...72,231,819

G

phospholipase A2 group IVB

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:41,838,847...41,848,143
Ensembl chr15:41,837,775...41,848,147

G

phospholipase A2 group IVD

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:42,067,009...42,094,562
Ensembl chr15:42,067,009...42,094,562

G

phospholipase A2 group IVE

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:41,981,582...42,050,703
Ensembl chr15:41,981,394...42,051,190

G

phospholipase A2 group IVF

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:42,139,034...42,156,636
Ensembl chr15:42,139,034...42,156,636

G

phospholipase C beta 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,284,256...40,307,935
Ensembl chr15:40,278,176...40,307,935

G

pleckstrin homology domain containing O2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:64,841,915...64,868,002
Ensembl chr15:64,841,883...64,868,002

G

perilipin 1

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr15:89,664,367...89,679,367
Ensembl chr15:89,664,367...89,679,427

G

PML nuclear body scaffold

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827

G

DNA polymerase gamma, catalytic subunit

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861

G

RNA polymerase II subunit M

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:57,706,714...57,717,557
Ensembl chr15:57,706,695...57,782,762

G

phosphopantothenoylcysteine decarboxylase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:75,023,590...75,050,726
Ensembl chr15:75,023,586...75,117,462

G

peptidylprolyl isomerase B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:64,155,817...64,163,022
Ensembl chr15:64,155,740...64,163,134

G

diphosphoinositol pentakisphosphate kinase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:43,533,475...43,590,253
Ensembl chr15:43,533,462...43,590,208

G

protein phosphatase 1 regulatory inhibitor subunit 14D

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,815,451...40,828,708
Ensembl chr15:40,815,451...40,828,709

G

protein regulator of cytokinesis 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:90,966,040...90,994,535
Ensembl chr15:90,966,040...90,995,629

G

protogenin

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:55,611,544...55,743,152
Ensembl chr15:55,611,544...55,743,152

G

proteasome 20S subunit alpha 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:78,540,405...78,552,417
Ensembl chr15:78,540,405...78,552,417

G

proline-serine-threonine phosphatase interacting protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475

G

protein tyrosine phosphatase non-receptor type 9

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:75,463,251...75,579,315
Ensembl chr15:75,463,251...75,579,315

G

pygopus family PHD finger 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:55,538,884...55,588,971
Ensembl chr15:55,538,884...55,588,947

G

RAB11A, member RAS oncogene family

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:65,869,491...65,891,989
Ensembl chr15:65,726,054...65,891,989

G

RAB27A, member RAS oncogene family

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:55,202,966...55,289,813
Ensembl chr15:55,202,966...55,319,113

G

RAB8B, member RAS oncogene family

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:63,189,606...63,267,776
Ensembl chr15:63,189,560...63,267,776

G

RAD51 recombinase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340

G

RNA guanine-7 methyltransferase activating subunit

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:82,986,210...82,991,057
Ensembl chr15:82,986,210...82,991,057

G

Ras protein specific guanine nucleotide releasing factor 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:78,959,906...79,090,780
Ensembl chr15:78,959,906...79,090,780

G

RAS guanyl releasing protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575

G

RAS like family 12

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:65,045,580...65,076,667
Ensembl chr15:65,053,337...65,076,690

G

RNA binding protein, mRNA processing factor 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:64,739,891...64,775,589
Ensembl chr15:64,739,891...64,775,589

G

RCC1 domain containing 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:90,954,884...90,963,125
Ensembl chr15:90,954,881...90,963,125

G

reticulocalbin 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:76,931,749...76,954,393
Ensembl chr15:76,931,738...76,954,393

G

REC114 meiotic recombination protein

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:73,443,164...73,560,013
Ensembl chr15:73,443,164...73,560,013

G

regulatory factor X7

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:56,087,280...56,245,082
Ensembl chr15:56,087,280...56,245,082

G

Rh family C glycoprotein

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr15:89,471,407...89,496,583
Ensembl chr15:89,471,398...89,496,589

G

ras homolog family member V

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,872,214...40,874,234
Ensembl chr15:40,872,214...40,874,234

G

retinaldehyde binding protein 1

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr15:89,209,869...89,221,579
Ensembl chr15:89,209,869...89,221,614

G

regulator of microtubule dynamics 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,735,887...40,755,254
Ensembl chr15:40,735,884...40,755,851

G

ring finger protein 111

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:58,987,663...59,097,419
Ensembl chr15:58,865,175...59,097,419

G

RNA, U5A small nuclear 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:65,296,051...65,296,167
Ensembl chr15:65,296,051...65,296,166

G

RNA, U6 small nuclear 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:67,839,940...67,840,045
Ensembl chr15:67,839,939...67,840,045

G

RAR related orphan receptor A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:60,488,284...61,229,302
Ensembl chr15:60,488,284...61,229,302

G

RNA polymerase II associated protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:41,517,176...41,544,257
Ensembl chr15:41,517,176...41,544,269

G

ribosomal protein L4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:66,498,015...66,504,855
Ensembl chr15:66,498,015...66,524,532

G

ribosomal protein lateral stalk subunit P1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:69,452,818...69,456,205
Ensembl chr15:69,452,814...69,456,205

G

ribonuclease P and MRP subunit p25

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:74,954,418...74,956,772
Ensembl chr15:74,954,418...74,956,772

G

ribosomal protein S17

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459

G

ribosomal protein S27 like

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:63,148,249...63,157,477
Ensembl chr15:63,125,872...63,158,021

G

RNA pseudouridine synthase domain containing 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,569,299...40,574,949
Ensembl chr15:40,569,299...40,574,949

G

ribosomal L24 domain containing 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:55,180,806...55,196,941
Ensembl chr15:55,180,806...55,197,049

G

RTF1 homolog, Paf1/RNA polymerase II complex component

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:41,417,095...41,483,563
Ensembl chr15:41,408,408...41,483,563

G

ryanodine receptor 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121

G

stabilizer of axonemal microtubules 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:82,262,818...82,284,927
Ensembl chr15:82,262,810...82,284,930

G

secretory carrier membrane protein 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:74,843,730...74,873,365
Ensembl chr15:74,843,730...74,873,365

G

secretory carrier membrane protein 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:74,995,563...75,021,495
Ensembl chr15:74,957,219...75,021,495

G

S-phase cyclin A associated protein in the ER

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444

G

small Cajal body-specific RNA 15

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:82,755,945...82,756,071
Ensembl chr15:82,755,945...82,756,071

G

secretogranin III

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:51,681,503...51,721,026
Ensembl chr15:51,681,492...51,721,026

G

secretogranin V

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:32,641,710...32,697,092
Ensembl chr15:32,641,676...32,697,098

G

SEC11 homolog A, signal peptidase complex subunit

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:84,669,544...84,716,139
Ensembl chr15:84,669,538...84,716,460

G

SECIS binding protein 2 like

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:48,988,638...49,046,446
Ensembl chr15:48,988,476...49,046,447

G

semaphorin 4B

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr15:90,184,920...90,229,661
Ensembl chr15:90,160,604...90,229,679

G

semaphorin 6D

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:47,184,089...47,774,228
Ensembl chr15:47,184,101...47,774,228

G

semaphorin 7A (JohnMiltonHagen blood group)

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:74,409,289...74,433,958
Ensembl chr15:74,409,289...74,433,958

G

SUMO peptidase family member, NEDD8 specific

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:72,114,258...72,143,692
Ensembl chr15:72,114,258...72,143,692

G

small EDRK-rich factor 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:43,777,086...43,796,089
Ensembl chr15:43,777,087...43,804,427

G

serine incorporator 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:43,794,162...43,800,220
Ensembl chr15:43,794,162...43,800,220

G

SH2 domain containing 7

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:78,090,122...78,104,362
Ensembl chr15:78,077,808...78,104,370

G

SH3 domain containing GRB2 like 3, endophilin A3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:83,447,341...83,633,820
Ensembl chr15:83,447,228...83,618,743

G

SHC adaptor protein 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:48,823,741...48,963,919
Ensembl chr15:48,823,741...48,963,919

G

Src homology 2 domain containing F

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:45,167,214...45,201,116
Ensembl chr15:45,167,214...45,201,175

G

SIN3 transcription regulator family member A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842

G

SKI8 subunit of superkiller complex

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:78,283,235...78,299,609
Ensembl chr15:78,277,835...78,299,703

G

SKI family transcriptional corepressor 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:67,825,509...67,834,582
Ensembl chr15:67,819,704...67,834,582

G

solute carrier family 12 member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078

G

solute carrier family 12 member 6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060

G

solute carrier family 24 member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:65,611,350...65,661,002
Ensembl chr15:65,611,366...65,660,995

G

solute carrier family 24 member 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:48,120,990...48,142,672
Ensembl chr15:48,120,990...48,142,672

G

solute carrier family 27 member 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:50,182,196...50,236,385
Ensembl chr15:50,182,196...50,236,385

G

solute carrier family 28 member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:84,884,662...84,975,649
Ensembl chr15:84,884,654...84,945,798

G

solute carrier family 28 member 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:45,252,234...45,277,846
Ensembl chr15:45,252,234...45,277,846

G

solute carrier family 30 member 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:45,479,606...45,522,755
Ensembl chr15:45,479,606...45,522,755

G

SLC51 subunit beta

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:65,045,387...65,053,397
Ensembl chr15:65,045,387...65,053,397

G

SAFB like transcription modulator

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:58,879,050...58,933,679
Ensembl chr15:58,879,050...58,933,679

G

SMAD family member 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173

G

SMAD family member 6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849

G

synaptosome associated protein 23

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:42,491,129...42,533,058
Ensembl chr15:42,491,233...42,545,356

G

small nuclear RNA activating complex polypeptide 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:66,489,748...66,497,762
Ensembl chr15:66,490,135...66,497,780

G

snurportin 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:75,598,086...75,626,461
Ensembl chr15:75,598,083...75,626,469

G

sorting nexin 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:64,095,982...64,144,231
Ensembl chr15:64,094,123...64,146,090

G

sorting nexin 22

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:64,151,731...64,157,481
Ensembl chr15:64,151,715...64,157,481

G

sorting nexin 33

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:75,647,912...75,662,301
Ensembl chr15:75,647,912...75,662,301

G

sorbitol dehydrogenase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:45,023,195...45,077,185
Ensembl chr15:45,023,147...45,077,185

G

sperm equatorial segment protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:68,930,525...68,946,811
Ensembl chr15:68,818,221...68,946,811

G

SPG11 vesicle trafficking associated, spatacsin

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688

G

SPG21 abhydrolase domain containing, maspardin

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:64,963,022...64,989,914
Ensembl chr15:64,963,022...64,990,310

G

serine peptidase inhibitor, Kunitz type 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,844,048...40,858,207
Ensembl chr15:40,844,018...40,858,207

G

signal peptide peptidase like 2A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:50,702,266...50,765,706
Ensembl chr15:50,702,266...50,765,948

G

sprouty related EVH1 domain containing 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249

G

spectrin beta, non-erythrocytic 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:41,848,146...41,894,053
Ensembl chr15:41,848,146...41,894,053

G

sulfide quinone oxidoreductase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:45,631,148...45,691,281
Ensembl chr15:45,631,148...45,691,281

G

signal recognition particle 14

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:40,035,690...40,039,202
Ensembl chr15:40,035,690...40,039,181

G

suppressor of tumorigenicity 20

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:79,898,842...79,923,752
Ensembl chr15:79,898,840...79,923,702

G

ST20-MTHFS readthrough

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:79,843,547...79,923,092
Ensembl chr15:79,845,150...79,923,754

G

StAR related lipid transfer domain containing 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:81,309,053...81,324,141
Ensembl chr15:81,309,053...81,324,183

G

StAR related lipid transfer domain containing 9

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:42,575,606...42,720,998
Ensembl chr15:42,575,606...42,720,998

G

stomatin like 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:73,978,926...73,994,622
Ensembl chr15:73,978,926...73,994,622

G

signaling receptor and transporter of retinol STRA6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267

G

stereocilin

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800

G

TBC1 domain family member 21

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:73,873,564...73,910,024
Ensembl chr15:73,873,564...73,889,214

G

TBC1 domain family member 2B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr15:77,994,985...78,077,711
Ensembl chr15:77,984,036...78,077,724