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 (1394) Mouse (1402) Human (41093) Chinchilla (1340) Bonobo (1383) Dog (1388) Squirrel (1355) Pig (1369) Green Monkey (1378) Naked Mole-rat (1329) All
Genes (1393) Strains (1)

3p deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat domain 28

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr16:6,918,487...7,050,244
Ensembl chr16:6,914,336...7,050,249

G

biotinidase

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945

G

similar to human chromosome 3 open reading frame 20

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 4:124,422,033...124,470,657
Ensembl chr 4:124,432,193...124,469,254

G

calpain 7

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr16:6,545,630...6,581,908
Ensembl chr16:6,545,731...6,581,905

G

coiled-coil domain containing 174

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 4:124,392,183...124,419,035
Ensembl chr 4:124,392,274...124,419,035

G

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

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 4:123,968,264...123,977,398
Ensembl chr 4:123,968,265...123,977,414
Ensembl chr 1:123,968,265...123,977,414

G

collagen like tail subunit of asymmetric acetylcholinesterase

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr16:6,731,850...6,824,973
Ensembl chr16:6,731,858...6,787,107

G

deleted in azoospermia-like

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 9:10,695,593...10,712,330
Ensembl chr 9:10,695,592...10,712,323

G

diphthamide biosynthesis 3

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr16:7,288,295...7,293,734
Ensembl chr16:7,282,705...7,291,265

G

ELL associated factor 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr16:6,698,322...6,713,071
Ensembl chr16:6,698,322...6,713,071

G

EF hand domain family, member B

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 9:6,372,191...6,441,678
Ensembl chr 9:6,372,194...6,441,919

G

fibulin 2

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 4:123,704,289...123,763,857
Ensembl chr 4:123,704,373...123,763,948

G

FYVE, RhoGEF and PH domain containing 5

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 4:124,497,061...124,594,564
Ensembl chr 4:124,497,068...124,594,563

G

polypeptide N-acetylgalactosaminyltransferase 15

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr16:7,227,232...7,267,002
Ensembl chr16:7,227,271...7,267,014

G

glutamate receptor interacting protein 2

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 4:124,271,456...124,356,538
Ensembl chr 4:124,271,456...124,321,268

G

2-hydroxyacyl-CoA lyase 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr16:6,826,881...6,863,027
Ensembl chr16:6,824,906...6,863,027

G

histone deacetylase 11

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 4:123,645,873...123,667,407
Ensembl chr 4:123,650,157...123,667,405

G

lysine acetyltransferase 2B

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 9:6,562,525...6,667,064
Ensembl chr 9:6,562,288...6,667,064

G

potassium voltage-gated channel subfamily H member 8

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 9:5,506,044...5,945,828
Ensembl chr 9:5,506,044...5,945,828

G

LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 4:124,021,023...124,027,269
Ensembl chr 4:124,021,023...124,027,269

G

methyltransferase 6, tRNA N3-cytidine

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr16:6,683,820...6,699,013
Ensembl chr16:6,583,465...6,698,975

G

mitochondrial ribosomal protein S25

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 4:124,668,320...124,680,086
Ensembl chr 4:124,668,094...124,680,057

G

nuclear receptor subfamily 2, group C, member 2

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 4:124,610,216...124,666,813
Ensembl chr 4:124,608,960...124,661,902

G

nucleoporin 210

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 4:123,511,558...123,609,874
Ensembl chr 4:123,511,559...123,609,874

G

oxidoreductase NAD-binding domain containing 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr16:7,293,470...7,322,540
Ensembl chr16:7,293,470...7,322,540

G

phospholipase C-like 2

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 9:3,292,564...3,477,009
Ensembl chr 9:3,292,695...3,477,009

G

protein phosphatase 2C-like domain containing 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 9:6,512,282...6,533,653
Ensembl chr 9:6,512,657...6,533,639

G

RAB5A, member RAS oncogene family

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 9:6,483,906...6,512,877
Ensembl chr 9:6,484,469...6,512,873

G

rabenosyn, RAB effector

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 4:124,682,228...124,712,578
Ensembl chr 4:124,683,969...124,712,578

G

raftlin lipid raft linker 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 9:10,804,611...11,002,084
Ensembl chr 9:10,804,611...11,002,084

G

SATB homeobox 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251

G

SET domain containing 5

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894

G

SH3-domain binding protein 5

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr16:6,583,462...6,678,344
Ensembl chr16:6,583,465...6,698,975

G

solute carrier family 6 member 6

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 4:124,195,186...124,268,880
Ensembl chr 4:124,195,218...124,268,875

G

TBC1 domain family, member 5

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 9:3,503,328...4,017,131
Ensembl chr 9:3,513,623...4,016,913

G

THUMP domain containing 3

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 4:146,185,422...146,209,802
Ensembl chr 4:146,185,503...146,211,246

G

transmembrane protein 43

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825

G

Wnt family member 7A

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981

G

XPC complex subunit, DNA damage recognition and repair factor

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010

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:25701870 PMID:25712129 PMID:25741868 PMID:28492532 PMID:30289615 More...

NCBI chr 8:33,468,669...33,524,407
Ensembl chr 8:33,415,671...33,524,389

Amish Lethal Microcephaly

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 25 member 19

CTD Direct Evidence: marker/mechanism
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)

OMIM
CTD
ClinVar

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

NCBI chr10:100,853,554...100,867,517
Ensembl chr10:100,847,168...100,867,447

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: KAT6A syndrome | ClinVar Annotator: match by term: KAT6A-related condition | ClinVar Annotator: match by term: KAT6A-related neurodevelopmental disorder with multiple anomalies

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

NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606

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: 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 4:35,784,995...35,803,474
Ensembl chr 4:35,785,237...35,803,423

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

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 2:78,505,069...78,801,384
Ensembl chr 2:78,505,070...78,803,135

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 chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382

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...

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 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032

G

phosphatase and tensin homolog

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

MouseDO
OMIM
ClinVar

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

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

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 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293

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 chr 1:168,404,334...168,438,589
Ensembl chr 1:168,404,335...168,438,416

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 chr 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877

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: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

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

NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889

G

THO complex subunit 6

ClinVar Annotator: match by term: THOC6-related condition | ClinVar Annotator: match by term: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

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

NCBI chr10:12,700,051...12,705,411
Ensembl chr10:12,700,051...12,706,925

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 chr 8:64,083,343...64,121,903
Ensembl chr 8:64,083,380...64,121,900

G

abhydrolase domain containing 17C, depalmitoylase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:138,084,632...138,125,595
Ensembl chr 1:138,084,634...138,125,595

G

abhydrolase domain containing 2, acylglycerol lipase

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:133,217,403...133,298,564
Ensembl chr 1:133,217,375...133,299,061

G

aggrecan

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627

G

acyl-CoA synthetase bubblegum family member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:54,991,294...55,047,276
Ensembl chr 8:54,991,296...55,047,391

G

actin, alpha, cardiac muscle 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523

G

adenosine deaminase-like

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:108,101,857...108,119,557
Ensembl chr 3:108,101,857...108,118,516
Ensembl chr 3:108,101,857...108,118,516

G

ADAM metallopeptidase domain 10

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889

G

ADAM metallopeptidase with thrombospondin type 1 motif, 7

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:90,704,727...90,744,333
Ensembl chr 8:90,704,727...90,744,328

G

ADAMTS-like 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:136,288,793...136,596,986
Ensembl chr 1:136,288,793...136,596,986

G

ADP-dependent glucokinase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:59,699,400...59,727,352
Ensembl chr 8:59,699,388...59,727,351

G

apoptosis enhancing nuclease

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:132,815,094...132,824,522
Ensembl chr 1:132,815,142...132,824,523

G

AFG2 AAA ATPase homolog B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:109,694,739...109,708,356
Ensembl chr 3:109,694,757...109,707,757

G

AGBL carboxypeptidase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:130,043,914...130,950,739
Ensembl chr 1:130,043,970...130,951,638

G

A-kinase anchoring protein 13

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:129,313,183...129,619,647
Ensembl chr 1:129,314,402...129,619,646

G

aldehyde dehydrogenase 1 family, member A2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107

G

alpha-kinase 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:135,014,455...135,062,294
Ensembl chr 1:135,014,499...135,062,302

G

ankyrin repeat and death domain containing 1A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:66,017,571...66,043,738
Ensembl chr 8:66,017,773...66,042,651

G

ankyrin repeat domain 34C

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:90,271,264...90,281,759
Ensembl chr 8:90,269,315...90,281,775

G

ankyrin repeat domain 63

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:105,675,148...105,679,970
Ensembl chr 3:105,663,638...105,682,404

G

acidic nuclear phosphoprotein 32 family member A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:62,829,099...62,865,443
Ensembl chr 8:62,827,456...62,865,443

G

alanyl aminopeptidase, membrane

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:133,767,332...133,810,137
Ensembl chr 1:133,767,332...133,785,789

G

annexin A2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658

G

adaptor related protein complex 3 subunit beta 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:135,412,580...135,445,191
Ensembl chr 1:135,412,580...135,445,191

G

adaptor related protein complex 3 subunit sigma 2

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:133,818,825...133,859,269
Ensembl chr 1:133,818,825...133,859,322

G

adaptor related protein complex 4 subunit epsilon 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752

G

aph-1 homolog B, gamma secretase subunit

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:67,429,198...67,454,735
Ensembl chr 8:67,429,198...67,450,243

G

aquaporin 9

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:71,797,231...71,837,485
Ensembl chr 8:71,797,234...71,837,395

G

aquarius intron-binding spliceosomal factor

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:100,874,987...100,945,026
Ensembl chr 3:100,874,987...100,945,044

G

AT-rich interaction domain 3B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:58,193,268...58,240,901
Ensembl chr 8:58,193,418...58,238,318

G

ariadne RBR E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:59,777,378...59,879,762
Ensembl chr 8:59,777,379...59,880,245

G

aryl hydrocarbon receptor nuclear translocator 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:138,236,235...138,392,868
Ensembl chr 1:138,189,940...138,393,153

G

actin-related protein 2/3 complex inhibitor

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:133,864,288...133,873,124
Ensembl chr 1:133,864,265...133,873,124

G

cAMP-regulated phosphoprotein 19

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:75,779,640...75,802,474
Ensembl chr 8:75,779,523...75,802,452
Ensembl chr 8:75,779,523...75,802,452

G

atos homolog A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:75,694,828...75,772,565
Ensembl chr 8:75,695,022...75,772,549

G

ATPase phospholipid transporting 8B4 (putative)

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:113,554,979...113,757,635
Ensembl chr 3:113,556,192...113,757,225

G

apoptosis and caspase activation inhibitor

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:99,299,009...99,431,635
Ensembl chr 3:99,298,930...99,431,634

G

beta-2 microglobulin

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766

G

bromo adjacent homology domain containing 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:105,891,207...105,914,414
Ensembl chr 3:105,892,478...105,914,410

G

Bardet-Biedl syndrome 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607

G

BCL2-related protein A1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:89,716,914...89,724,998
Ensembl chr 8:89,716,914...89,724,998

G

Bcl2-like 10

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:76,107,326...76,113,373
Ensembl chr 8:76,107,326...76,113,367

G

BLM RecQ like helicase

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:1580056, RGD:1599420

NCBI chr 1:134,409,832...134,496,073
Ensembl chr 1:134,409,857...134,484,312

G

biogenesis of lysosomal organelles complex 1 subunit 6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308

G

Bcl2 modifying factor

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:105,499,534...105,520,159
Ensembl chr 3:105,499,538...105,520,145

G

basonuclin zinc finger protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:135,917,676...135,943,333
Ensembl chr 1:135,917,687...135,943,333

G

BCL2 interacting protein 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:70,640,436...70,661,782
Ensembl chr 8:70,640,445...70,675,590

G

BTB domain containing 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:135,734,549...135,773,067
Ensembl chr 1:135,734,589...135,771,981

G

BUB1 mitotic checkpoint serine/threonine kinase B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547

G

similar to human chromosome 15 open reading frame 40

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:135,725,869...135,732,028
Ensembl chr 1:135,717,545...135,732,039

G

C2 calcium-dependent domain containing 4A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:68,467,017...68,469,781
Ensembl chr 8:68,466,664...68,470,031

G

C2 calcium-dependent domain containing 4B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:68,372,793...68,396,477
Ensembl chr 8:68,384,847...68,396,328

G

similar to human chromosome 15 open reading frame 48

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:109,719,952...109,723,505
Ensembl chr 3:109,719,897...109,724,006
Ensembl chr 3:109,719,897...109,724,006

G

similar to human chromosome 15 open reading frame 62

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,164,179...106,167,404
Ensembl chr 3:106,157,382...106,167,831

G

similar to human chromosome 15 open reading frame 39

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:57,646,324...57,655,896
Ensembl chr 8:57,645,756...57,655,941

G

similar to human chromosome 15 open reading frame 61

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:63,868,125...63,872,863
Ensembl chr 8:63,868,125...63,872,751

G

calmodulin-like 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:63,323,426...63,335,234
Ensembl chr 8:63,323,351...63,335,234

G

calpain 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858

G

carbonic anhydrase 12

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:67,274,739...67,330,428
Ensembl chr 8:67,274,359...67,330,440

G

cation channel, sperm associated 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:108,368,654...108,389,380
Ensembl chr 3:108,368,668...108,388,050

G

coiled-coil domain containing 32

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:105,998,429...106,010,985
Ensembl chr 3:105,998,430...106,010,975

G

coiled-coil domain containing 33

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:58,434,798...58,534,338
Ensembl chr 8:58,435,661...58,534,370

G

coiled-coil domain containing 9B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:105,736,120...105,745,039
Ensembl chr 3:105,739,174...105,744,697

G

cyclin B2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:71,087,594...71,100,794
Ensembl chr 8:71,087,595...71,100,874

G

cyclin D1 binding protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:107,962,402...107,974,234
Ensembl chr 3:107,962,261...107,974,233

G

cell cycle progression 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:73,719,960...73,752,437
Ensembl chr 8:73,719,955...73,752,430

G

Cd276 molecule

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:58,937,751...58,968,082
Ensembl chr 8:58,937,751...58,968,380

G

codanin 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:107,675,147...107,689,811
Ensembl chr 3:107,673,645...107,689,773

G

CDAN1 interacting nuclease 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:102,441,553...102,646,935
Ensembl chr 3:102,441,704...102,646,682

G

CUGBP, Elav-like family member 6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:59,975,095...60,006,060
Ensembl chr 8:59,975,088...60,005,041

G

cell migration inducing hyaluronidase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:137,906,921...138,062,430
Ensembl chr 1:137,908,920...138,062,415

G

centrosomal protein 152

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:112,803,185...112,878,298
Ensembl chr 3:112,810,425...112,878,458
Ensembl chr 3:112,810,425...112,878,458

G

cilia and flagella associated protein 161

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:137,743,783...137,768,685
Ensembl chr 1:137,743,784...137,768,730

G

cingulin-like 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:72,273,401...72,424,842
Ensembl chr 8:72,275,645...72,422,917

G

ChaC glutathione-specific gamma-glutamylcyclotransferase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,342,302...106,345,526
Ensembl chr 3:106,342,302...106,345,526

G

calcineurin-like EF-hand protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,536,009...106,571,255
Ensembl chr 3:106,536,004...106,571,251

G

cholinergic receptor, muscarinic 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:99,284,846...99,337,252
Ensembl chr 3:99,284,846...99,337,252

G

cholinergic receptor nicotinic alpha 3 subunit

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:55,401,668...55,415,165
Ensembl chr 8:55,401,702...55,415,165

G

cholinergic receptor nicotinic alpha 5 subunit

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146

G

cholinergic receptor nicotinic beta 4 subunit

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:55,417,583...55,437,027
Ensembl chr 8:55,418,313...55,437,027

G

carbohydrate sulfotransferase 14

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:105,916,481...105,918,538
Ensembl chr 3:105,916,466...105,918,548

G

cytosolic iron-sulfur assembly component 2A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:66,670,533...66,682,455
Ensembl chr 8:66,670,483...66,682,455

G

calcium and integrin binding 1

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423

G

calcium and integrin binding family member 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:54,930,265...54,947,157

G

cartilage intermediate layer protein

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:65,777,281...65,792,251
Ensembl chr 8:65,777,281...65,792,251

G

ciliary microtubule associated protein 1C

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:57,248,746...57,281,084
Ensembl chr 8:57,248,746...57,281,004

G

creatine kinase, mitochondrial 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:108,329,859...108,335,760
Ensembl chr 3:108,330,705...108,335,758

G

CDC-like kinase 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:58,152,155...58,167,196
Ensembl chr 8:58,152,155...58,168,181

G

CLN6, transmembrane ER protein

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360

G

caseinolytic mitochondrial matrix peptidase chaperone subunit X

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:65,805,460...65,845,643
Ensembl chr 8:65,805,511...65,845,082

G

COMM domain containing 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:57,566,236...57,569,701
Ensembl chr 8:57,566,236...57,569,760

G

COP9 signalosome subunit 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:113,084,174...113,110,090
Ensembl chr 3:113,084,176...113,109,947

G

coronin 2B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:62,906,861...63,017,295
Ensembl chr 8:62,906,867...63,017,302

G

cytochrome c oxidase subunit 5A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:57,922,374...57,933,781
Ensembl chr 8:57,922,290...57,933,781

G

cytoplasmic polyadenylation element binding protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760

G

complexin 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:58,003,535...58,010,297
Ensembl chr 8:58,003,535...58,010,297

G

cellular retinoic acid binding protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:55,138,363...55,159,360
Ensembl chr 8:55,151,285...55,159,360

G

CREB regulated transcription coactivator 3

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:134,552,830...134,655,929
Ensembl chr 1:134,554,696...134,655,500

G

C-terminal Src kinase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:58,029,748...58,048,742
Ensembl chr 8:58,029,749...58,048,292

G

casein kinase 1, gamma 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:66,439,760...66,577,247
Ensembl chr 8:66,439,864...66,572,826

G

chondroitin sulfate proteoglycan 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010

G

CTD small phosphatase like 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:108,915,263...108,970,620
Ensembl chr 3:108,915,280...108,967,227

G

cathepsin H

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824

G

cortexin 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:112,390,972...112,401,321
Ensembl chr 3:112,391,335...112,401,319

G

cytochrome P450, family 11, subfamily a, polypeptide 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338

G

cytochrome P450, family 19, subfamily a, polypeptide 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758

G

cytochrome P450, family 1, subfamily a, polypeptide 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125

G

cytochrome P450, family 1, subfamily a, polypeptide 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312

G

death-associated protein kinase 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:66,706,536...66,825,567
Ensembl chr 8:66,706,609...66,825,567

G

DENN domain containing 4A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:65,322,920...65,436,331
Ensembl chr 8:65,322,941...65,436,330

G

DET1 partner of COP1 E3 ubiquitin ligase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:132,749,736...132,765,963
Ensembl chr 1:132,749,756...132,765,923

G

DIS3-like exosome 3'-5' exoribonuclease

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:64,803,925...64,840,306
Ensembl chr 8:64,803,927...64,840,165

G

dispatched RND transporter family member 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:105,762,303...105,777,826
Ensembl chr 3:105,762,305...105,777,800

G

delta like canonical Notch ligand 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931

G

Dmx-like 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:54,741,164...54,884,948
Ensembl chr 8:54,741,160...54,885,161

G

dynein axonemal assembly factor 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292

G

DnaJ heat shock protein family (Hsp40) member A4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:55,085,246...55,102,715
Ensembl chr 8:55,085,464...55,101,207

G

DnaJ heat shock protein family (Hsp40) member C17

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,162,197...106,195,771
Ensembl chr 3:106,162,197...106,195,751

G

diphthamine biosynthesis 6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:101,307,229...101,437,463
Ensembl chr 3:101,307,231...101,534,603

G

dipeptidylpeptidase 8

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:65,550,620...65,605,828
Ensembl chr 8:65,550,677...65,605,825

G

DTW domain containing 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:113,392,402...113,409,322
Ensembl chr 3:113,392,457...113,408,105

G

dual oxidase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:109,260,526...109,295,588
Ensembl chr 3:109,262,397...109,295,563

G

dual oxidase 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902

G

dual oxidase maturation factor 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:109,249,815...109,260,511
Ensembl chr 3:109,249,923...109,260,499

G

dual oxidase maturation factor 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:109,245,337...109,249,055
Ensembl chr 3:109,245,476...109,248,968

G

deoxyuridine triphosphatase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:112,498,864...112,509,994
Ensembl chr 3:112,498,982...112,510,771

G

enhancer of mRNA decapping 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:58,106,147...58,151,685
Ensembl chr 8:58,106,175...58,151,671

G

elongation factor like GTPase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:136,638,527...136,763,518
Ensembl chr 1:136,638,527...136,763,518

G

EH-domain containing 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:107,058,191...107,121,985
Ensembl chr 3:107,058,958...107,122,002

G

EP300 interacting inhibitor of differentiation 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:112,922,961...112,924,680
Ensembl chr 3:112,922,668...112,924,752

G

eukaryotic translation initiation factor 2 alpha kinase 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630

G

eukaryotic translation initiation factor 3, subunit J

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:108,985,103...109,007,341
Ensembl chr 3:108,985,118...109,007,953

G

elongation factor for RNA polymerase II 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:108,413,035...108,417,181
Ensembl chr 3:108,410,448...108,417,132

G

ER membrane protein complex subunit 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:99,169,711...99,174,730
Ensembl chr 3:99,169,711...99,174,729

G

ER membrane protein complex subunit 7

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:99,263,933...99,274,365
Ensembl chr 3:99,263,980...99,274,360

G

erythrocyte membrane protein band 4.2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932

G

electron transfer flavoprotein subunit alpha

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:55,835,115...55,891,890
Ensembl chr 8:55,835,134...55,891,969

G

exonuclease 3'-5' domain containing 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,507,839...106,535,922
Ensembl chr 3:106,508,076...106,535,922

G

fumarylacetoacetate hydrolase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505

G

family with sequence similarity 219, member B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:57,941,327...57,946,916
Ensembl chr 8:57,941,294...57,946,906

G

family with sequence similarity 227, member B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:113,226,662...113,392,396
Ensembl chr 3:113,233,205...113,392,320

G

family with sequence similarity 81, member A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:70,762,852...70,821,898
Ensembl chr 8:70,763,614...70,821,875

G

family with sequence similarity 98, member B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:104,134,803...104,164,249
Ensembl chr 3:104,134,824...104,163,704

G

FA complementation group I

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640

G

fibrillin 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889

G

F-box and leucine-rich repeat protein 22

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:67,069,998...67,076,685
Ensembl chr 8:67,069,998...67,076,685

G

F-box protein 22

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:55,579,906...55,595,981
Ensembl chr 8:55,579,891...55,596,148

G

fem-1 homolog B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:63,265,301...63,278,577
Ensembl chr 8:63,265,301...63,278,577

G

FES proto-oncogene, tyrosine kinase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:134,337,698...134,346,934
Ensembl chr 1:134,337,698...134,346,934

G

fibroblast growth factor 7

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929

G

forkhead box B1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:70,407,221...70,409,841
Ensembl chr 8:70,408,186...70,409,781

G

FERM domain containing 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:108,492,099...108,763,715
Ensembl chr 3:108,474,562...108,763,498

G

fibronectin type III and SPRY domain containing 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:135,484,002...135,522,517
Ensembl chr 1:135,489,266...135,522,472

G

fibrous sheath interacting protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:105,074,584...105,217,180
Ensembl chr 3:105,068,543...105,217,167

G

furin (paired basic amino acid cleaving enzyme)

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:134,348,142...134,361,182
Ensembl chr 1:134,348,144...134,364,314

G

GA binding protein transcription factor subunit beta 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:113,879,972...113,924,742
Ensembl chr 3:113,879,973...113,923,696

G

galactokinase 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:113,110,057...113,243,014
Ensembl chr 3:113,110,030...113,233,306

G

glucosidase, alpha; neutral C

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:107,353,369...107,406,104
Ensembl chr 3:107,353,369...107,405,241

G

glycine amidinotransferase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129

G

GTP cyclohydrolase I feedback regulator

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,158,046...106,162,080
Ensembl chr 3:106,159,394...106,162,080

G

glucosaminyl (N-acetyl) transferase 3, mucin type

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:70,689,173...70,696,476
Ensembl chr 8:70,686,844...70,699,562

G

GDP-D-glucose phosphorylase 1

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:134,184,119...134,193,281
Ensembl chr 1:134,183,696...134,219,783

G

gap junction protein, delta 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:100,771,450...100,776,134
Ensembl chr 3:100,772,062...100,775,061

G

glucuronic acid epimerase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:62,546,104...62,612,144
Ensembl chr 8:62,546,107...62,612,040

G

gliomedin

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196

G

G protein subunit beta 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:76,076,120...76,105,069
Ensembl chr 8:76,073,306...76,105,069

G

golgi membrane protein 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:108,827,017...108,896,207
Ensembl chr 3:108,827,047...108,896,207

G

G protein-coupled receptor 176

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:105,236,794...105,337,664
Ensembl chr 3:105,236,795...105,337,226

G

GRAM domain containing 2A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:60,079,744...60,117,788
Ensembl chr 8:60,080,338...60,115,842

G

gremlin 1, DAN family BMP antagonist

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:100,512,317...100,524,001
Ensembl chr 3:100,512,313...100,524,082

G

general transcription factor 2A subunit 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:70,662,447...70,675,576
Ensembl chr 8:70,662,428...70,675,569

G

3-hydroxyacyl-CoA dehydratase 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:65,501,240...65,538,507
Ensembl chr 8:65,501,240...65,538,507

G

hyaluronan and proteoglycan link protein 3

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:133,046,465...133,064,665
Ensembl chr 1:133,046,467...133,080,177

G

HAUS augmin like complex subunit 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:107,553,146...107,565,982
Ensembl chr 3:107,553,161...107,565,157

G

hyperpolarization activated cyclic nucleotide-gated potassium channel 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639

G

histidine decarboxylase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:113,847,256...113,865,334
Ensembl chr 3:113,847,260...113,865,341

G

HD domain containing 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:134,299,469...134,301,757
Ensembl chr 1:134,299,468...134,301,757

G

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

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:66,857,169...67,070,318
Ensembl chr 8:66,856,935...67,070,312

G

hexosaminidase subunit alpha

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013

G

high mobility group 20A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:56,819,673...56,895,658
Ensembl chr 8:56,819,659...56,895,656

G

homer scaffold protein 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:135,558,977...135,659,780
Ensembl chr 1:135,567,414...135,659,772

G

hydroxylysine kinase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:55,315,919...55,339,720
Ensembl chr 8:55,315,969...55,337,339

G

Huntingtin interacting protein K

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:108,434,997...108,436,370
Ensembl chr 3:108,432,539...108,436,370

G

interactor of little elongation complex ELL subunit 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:70,043,419...70,085,217
Ensembl chr 8:70,043,424...70,084,995

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025

G

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

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:54,971,694...54,991,085
Ensembl chr 8:54,971,740...54,991,084

G

immunoglobulin superfamily, DCC subclass, member 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:65,661,165...65,707,961
Ensembl chr 8:65,661,196...65,707,959

G

immunoglobulin superfamily, DCC subclass, member 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:65,621,893...65,657,651
Ensembl chr 8:65,621,897...65,657,648

G

interleukin 16

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130

G

IMP U3 small nucleolar ribonucleoprotein 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:57,339,528...57,340,416
Ensembl chr 8:57,339,496...57,340,414

G

INO80 complex ATPase subunit

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,368,455...106,465,716
Ensembl chr 3:106,368,455...106,467,911

G

inhibitory synaptic factor 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:58,904,153...58,914,850
Ensembl chr 8:58,904,153...58,914,843

G

integrator complex subunit 14

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:65,475,788...65,500,807
Ensembl chr 8:65,475,910...65,500,804

G

IQ motif containing H

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:63,889,816...64,083,248
Ensembl chr 8:63,892,370...64,083,223

G

IQ motif containing GTPase activating protein 1

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:134,679,581...134,769,776
Ensembl chr 1:134,679,586...134,769,755

G

iron responsive element binding protein 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611

G

interferon stimulated exonuclease gene 20

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:132,829,303...132,837,027
Ensembl chr 1:132,815,123...132,837,027

G

ISL LIM homeobox 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:55,923,805...55,928,790
Ensembl chr 8:55,923,805...55,928,790

G

immunoglobulin superfamily containing leucine-rich repeat

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:58,571,155...58,574,128
Ensembl chr 8:58,570,777...58,574,130

G

immunoglobulin superfamily containing leucine-rich repeat 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:58,608,165...58,616,246
Ensembl chr 8:58,608,709...58,614,650

G

integrin subunit alpha 11

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:63,145,998...63,254,714
Ensembl chr 8:63,146,001...63,254,407

G

inositol-trisphosphate 3-kinase A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,726,036...106,734,601
Ensembl chr 3:106,726,036...106,734,600

G

isovaleryl-CoA dehydrogenase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575

G

jumonji domain containing 7

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,998,454...107,004,538
Ensembl chr 3:106,998,477...107,004,538

G

katanin regulatory subunit B1 like 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:99,183,748...99,225,789
Ensembl chr 3:99,183,716...99,225,786

G

kelch repeat and BTB domain containing 13

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:65,909,821...65,911,558

G

kinesin family member 23

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:62,397,908...62,425,162
Ensembl chr 8:62,397,948...62,425,072

G

kinesin family member 7

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576

G

kelch-like family member 25

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:129,724,894...129,750,142
Ensembl chr 1:129,722,026...129,750,227

G

kinetochore scaffold 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,029,627...106,091,915
Ensembl chr 3:106,029,661...106,091,915

G

kinetochore-localized astrin/SPAG5 binding protein

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:105,800,762...105,820,555
Ensembl chr 3:105,800,954...105,820,715

G

lactamase, beta

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:67,571,504...67,587,592
Ensembl chr 8:67,571,500...67,587,539

G

La ribonucleoprotein 6, translational regulator

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:61,183,744...61,205,548
Ensembl chr 8:61,184,116...61,205,535

G

leucine carboxyl methyltransferase 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:108,099,960...108,102,084
Ensembl chr 3:108,099,961...108,102,084

G

lactase-like

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:64,618,356...64,654,851
Ensembl chr 8:64,618,350...64,639,357

G

lactate dehydrogenase A-like 6B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:45,997,845...45,999,268
Ensembl chr 1:45,991,991...45,999,272

G

LEO1 homolog, Paf1/RNA polymerase II complex component

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:76,199,547...76,223,983
Ensembl chr 8:76,199,099...76,223,983

G

leucine rich repeat and Ig domain containing 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:57,011,272...57,193,496
Ensembl chr 8:57,010,007...57,196,544

G

lipase C, hepatic type

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464

G

lectin, mannose-binding, 1 like

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:58,010,839...58,029,599
Ensembl chr 8:58,010,839...58,023,681

G

U5 spliceosomal RNA

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:65,720,876...65,720,991
Ensembl chr 8:65,720,876...65,720,991

G

U6 spliceosomal RNA

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:63,594,040...63,594,146
Ensembl chr 8:63,594,040...63,594,146

G

lysyl oxidase-like 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356

G

lysophosphatidylcholine acyltransferase 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:99,044,729...99,052,963
Ensembl chr 3:99,044,729...99,052,875

G

leucine rich repeat containing 49

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:61,053,264...61,160,695
Ensembl chr 8:61,053,267...61,160,850

G

leucine rich repeat containing 57

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:107,544,786...107,553,256
Ensembl chr 3:107,547,405...107,553,256

G

leukocyte receptor tyrosine kinase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,734,675...106,741,552
Ensembl chr 3:106,734,676...106,743,369

G

LysM domain containing 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:76,378,984...76,394,396
Ensembl chr 8:76,379,219...76,394,654

G

mannosidase, alpha, class 2A, member 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:134,304,714...134,327,611
Ensembl chr 1:134,306,236...134,327,315

G

mannosidase, alpha, class 2C, member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:57,537,879...57,549,691
Ensembl chr 8:57,537,321...57,549,690

G

microtubule-associated protein 1A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:108,263,217...108,283,936
Ensembl chr 3:108,263,151...108,282,899

G

mitogen activated protein kinase kinase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147

G

mitogen activated protein kinase kinase 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:63,625,220...63,852,090
Ensembl chr 8:63,625,221...63,851,983

G

mitogen-activated protein kinase 6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:76,146,650...76,169,767
Ensembl chr 8:76,146,690...76,169,720

G

mitogen activated protein kinase binding protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,947,342...106,998,368
Ensembl chr 3:106,947,827...106,996,199

G

multiple EGF-like-domains 11

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:64,892,312...65,218,984
Ensembl chr 8:64,892,387...65,216,061

G

Meis homeobox 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696

G

mesoderm development LRP chaperone

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:137,866,707...137,879,999
Ensembl chr 1:137,874,242...137,879,999

G

mesoderm posterior bHLH transcription factor 1

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:133,738,357...133,739,875
Ensembl chr 1:133,738,357...133,739,875

G

mesoderm posterior bHLH transcription factor 2

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:133,756,601...133,759,207
Ensembl chr 1:133,756,601...133,759,198

G

mex-3 RNA binding family member B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:136,855,130...136,859,365
Ensembl chr 1:136,855,130...136,859,354

G

microfibrillar-associated protein 1A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:108,440,163...108,456,744
Ensembl chr 3:108,438,845...108,456,750

G

milk fat globule EGF and factor V/VIII domain containing

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:133,064,665...133,080,069
Ensembl chr 1:133,064,665...133,080,073

G

MAX dimerization protein MGA

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043

G

membrane integral NOTCH2 associated receptor 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:90,137,374...90,169,152
Ensembl chr 8:90,137,374...90,169,137

G

MINDY lysine 48 deubiquitinase 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:71,268,274...71,327,698
Ensembl chr 8:71,256,447...71,328,453

G

microRNA 184

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:90,343,134...90,343,210
Ensembl chr 8:90,343,134...90,343,210

G

microRNA 9-3

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:133,440,049...133,440,138

G

meiosis-specific nuclear structural 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:73,148,877...73,169,570
Ensembl chr 8:73,148,877...73,176,925

G

mortality factor 4 like 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:90,642,988...90,664,518
Ensembl chr 8:90,642,988...90,664,519

G

mannose phosphate isomerase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:57,947,883...57,956,205
Ensembl chr 8:57,947,893...57,956,150

G

mitochondrial ribosomal protein L46

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:132,698,872...132,707,639
Ensembl chr 1:132,698,601...132,707,628

G

mitochondrial ribosomal protein S11

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:132,707,601...132,717,253
Ensembl chr 1:132,680,420...132,717,253

G

mitochondrial methionyl-tRNA formyltransferase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841

G

methenyltetrahydrofolate synthetase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:89,729,498...89,801,998
Ensembl chr 8:89,729,508...89,799,089

G

myelin expression factor 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:112,338,241...112,374,122
Ensembl chr 3:112,338,241...112,374,181

G

myosin IE

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:70,887,934...71,080,180
Ensembl chr 8:70,887,870...71,080,169

G

myosin VA

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918

G

myosin VC

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:75,989,497...76,066,485
Ensembl chr 8:75,989,528...76,066,483

G

myosin IXA

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:60,149,234...60,352,330
Ensembl chr 8:60,149,234...60,350,514

G

myocardial zonula adherens protein

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:72,155,817...72,243,036
Ensembl chr 8:72,131,530...72,243,036

G

NADH:ubiquinone oxidoreductase complex assembly factor 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,639,025...106,650,549
Ensembl chr 3:106,639,851...106,650,212

G

NEDD4 E3 ubiquitin protein ligase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:73,384,095...73,468,951
Ensembl chr 8:73,383,695...73,468,951

G

nei-like DNA glycosylase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258

G

neogenin 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:59,273,860...59,426,486
Ensembl chr 8:59,275,569...59,430,348

G

neugrin, neurite outgrowth associated

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:134,213,235...134,219,348
Ensembl chr 1:134,213,456...134,219,339

G

neuromedin B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:134,869,446...134,875,507
Ensembl chr 1:134,869,446...134,872,190

G

NOP10 ribonucleoprotein

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942

G

neuroplastin

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:58,996,873...59,063,402
Ensembl chr 8:58,996,887...59,063,401

G

nuclear receptor subfamily 2, group E, member 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163

G

neuregulin 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:55,586,253...55,677,829
Ensembl chr 8:55,592,893...55,677,483

G

NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase

OMIM:210900

NCBI chr 7:90,936,112...91,173,435
Ensembl chr 7:90,936,112...91,164,899

G

neurotrophic receptor tyrosine kinase 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:132,116,472...132,503,849
Ensembl chr 1:132,132,849...132,503,286

G

nucleolar and spindle associated protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,603,273...106,633,428
Ensembl chr 3:106,603,289...106,633,624

G

NUT midline carcinoma, family member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:99,053,510...99,064,311
Ensembl chr 3:99,053,510...99,064,311

G

ornithine decarboxylase antizyme 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:66,199,694...66,213,513
Ensembl chr 8:66,199,706...66,231,453

G

Opa interacting protein 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,593,746...106,603,281
Ensembl chr 3:106,593,760...106,603,250

G

one cut homeobox 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:75,599,432...75,633,598
Ensembl chr 8:75,599,740...75,627,277

G

p21 (RAC1) activated kinase 6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:105,638,248...105,674,399
Ensembl chr 3:105,638,653...105,672,975

G

progestin and adipoQ receptor family member 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:62,431,867...62,513,688
Ensembl chr 8:62,431,867...62,513,688

G

poly (ADP-ribose) polymerase family, member 16

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:65,731,152...65,749,438
Ensembl chr 8:65,727,706...65,749,433

G

poly (ADP-ribose) polymerase family, member 6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:60,016,594...60,049,108
Ensembl chr 8:60,016,877...60,049,108

G

PAT1 homolog 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:109,072,958...109,087,425
Ensembl chr 3:109,075,290...109,083,253

G

PCNA clamp associated factor

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:66,420,606...66,432,994
Ensembl chr 8:66,420,587...66,432,994
Ensembl chr 8:66,420,587...66,432,994

G

programmed cell death 7

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:65,862,606...65,877,333
Ensembl chr 8:65,862,387...65,877,333

G

phosphodiesterase 8A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:135,166,143...135,288,986
Ensembl chr 1:135,166,237...135,288,024

G

protein disulfide isomerase family A, member 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236

G

pseudopodium-enriched atypical kinase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:56,605,040...56,819,748
Ensembl chr 8:56,609,015...56,819,096

G

peroxisomal biogenesis factor 11 alpha

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:133,680,091...133,687,172
Ensembl chr 1:133,680,091...133,687,172

G

proline, histidine and glycine rich 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:105,742,822...105,760,835
Ensembl chr 3:105,757,581...105,760,832

G

protein inhibitor of activated STAT, 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:63,338,150...63,451,670
Ensembl chr 8:63,338,150...63,438,905

G

piercer of microtubule wall 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:73,715,383...73,719,849
Ensembl chr 8:73,715,383...73,719,849

G

PIF1 5'-to-3' DNA helicase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:66,110,641...66,120,202
Ensembl chr 8:66,111,072...66,120,200

G

phosphatidylinositol glycan anchor biosynthesis, class B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:73,751,756...73,775,679
Ensembl chr 8:73,751,798...73,775,679

G

pyruvate kinase M1/2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:60,057,629...60,079,600
Ensembl chr 8:60,057,402...60,079,599

G

phospholipase A2 group IVB

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:107,004,238...107,013,853
Ensembl chr 3:107,005,489...107,013,853

G

phospholipase A2 group IVD

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:107,220,973...107,242,224
Ensembl chr 3:107,220,978...107,242,224

G

phospholipase A2, group IVE

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:107,132,540...107,198,609
Ensembl chr 3:107,132,541...107,198,233

G

phospholipase A2, group IVF

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:107,249,053...107,266,201
Ensembl chr 3:107,250,075...107,264,689

G

phospholipase C, beta 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:105,683,676...105,704,384
Ensembl chr 3:105,684,815...105,704,302

G

pleckstrin homology domain containing O2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:66,079,106...66,105,283
Ensembl chr 8:66,078,448...66,105,266

G

perilipin 1

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:133,664,294...133,676,854
Ensembl chr 1:133,664,892...133,676,828

G

PML nuclear body scaffold

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971

G

DNA polymerase gamma, catalytic subunit

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567

G

RNA polymerase II subunit M

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:72,131,992...72,139,423
Ensembl chr 8:72,131,530...72,243,036

G

phosphopantothenoylcysteine decarboxylase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:57,815,195...57,842,863
Ensembl chr 8:57,815,195...58,000,570

G

peptidylprolyl isomerase B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:66,603,877...66,609,734
Ensembl chr 8:66,603,861...66,630,428

G

diphosphoinositol pentakisphosphate kinase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:108,284,120...108,327,683
Ensembl chr 3:108,284,120...108,323,428

G

protein phosphatase 1, regulatory (inhibitor) subunit 14D

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,205,043...106,219,290
Ensembl chr 3:106,205,046...106,219,649

G

protein regulator of cytokinesis 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:134,250,086...134,271,765
Ensembl chr 1:134,250,081...134,271,765

G

protogenin

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:73,548,440...73,657,945
Ensembl chr 8:73,548,466...73,653,259

G

proteasome 20S subunit alpha 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:55,340,431...55,347,893
Ensembl chr 8:55,340,386...55,347,890

G

proline-serine-threonine phosphatase-interacting protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580

G

protein tyrosine phosphatase, non-receptor type 9

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:57,391,290...57,472,352
Ensembl chr 8:57,391,259...57,470,952

G

pygopus family PHD finger 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:73,666,210...73,684,873
Ensembl chr 8:73,665,593...73,684,869

G

RAB11a, member RAS oncogene family

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:65,223,698...65,246,461
Ensembl chr 8:65,222,949...65,246,525

G

RAB27A, member RAS oncogene family

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829

G

RAB8B, member RAS oncogene family

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:67,458,921...67,536,466
Ensembl chr 8:67,458,923...67,536,384

G

RAD51 recombinase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,099,753...106,125,038
Ensembl chr 3:106,100,381...106,125,035

G

RNA guanine-7 methyltransferase activating subunit

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:135,708,529...135,714,417
Ensembl chr 1:135,708,535...135,722,151

G

RAS protein-specific guanine nucleotide-releasing factor 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:90,445,154...90,574,274
Ensembl chr 8:90,445,154...90,574,269

G

RAS guanyl releasing protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:104,168,549...104,230,107
Ensembl chr 3:104,170,013...104,230,056

G

RAS-like, family 12

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:65,917,840...65,931,885
Ensembl chr 8:65,917,840...65,932,741

G

RNA binding protein, mRNA processing factor 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:66,153,169...66,184,278
Ensembl chr 8:66,153,593...66,184,268

G

RCC1 domain containing 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:134,271,870...134,281,556
Ensembl chr 1:134,271,857...134,280,781

G

reticulocalbin 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:56,449,206...56,466,253
Ensembl chr 8:56,449,206...56,466,251

G

REC114 meiotic recombination protein

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:59,063,352...59,221,439
Ensembl chr 8:59,063,352...59,149,887

G

regulatory factor X, 7

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:73,254,051...73,339,209
Ensembl chr 8:73,254,051...73,339,209

G

Rh family, C glycoprotein

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:133,531,704...133,555,902
Ensembl chr 1:133,531,716...133,555,876

G

ras homolog family member V

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,260,774...106,270,009
Ensembl chr 3:106,260,776...106,269,479

G

retinaldehyde binding protein 1

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296

G

regulator of microtubule dynamics 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,125,961...106,146,568
Ensembl chr 3:106,125,951...106,146,586

G

ring finger protein 111

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:71,103,967...71,180,172
Ensembl chr 8:71,103,973...71,145,070

G

RAR-related orphan receptor A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:69,301,635...70,034,741
Ensembl chr 8:69,301,733...70,025,931

G

RNA polymerase II associated protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,746,642...106,768,182
Ensembl chr 3:106,656,742...106,768,151

G

ribosomal protein L4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:64,671,177...64,676,301
Ensembl chr 8:64,671,160...64,676,306

G

ribosomal protein lateral stalk subunit P1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:62,394,008...62,395,341
Ensembl chr 8:62,393,177...62,395,339

G

ribonuclease P and MRP subunit p25

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:57,907,352...57,908,732
Ensembl chr 8:57,907,352...57,908,732

G

ribosomal protein S17

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:135,295,920...135,298,506
Ensembl chr 1:135,295,919...135,298,535
Ensembl chr 8:135,295,919...135,298,535

G

ribosomal protein S27-like

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:67,562,483...67,567,418
Ensembl chr 8:67,562,483...67,567,418

G

RNA pseudouridine synthase domain containing 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,017,759...106,023,010
Ensembl chr 3:106,017,864...106,023,251

G

ribosomal L24 domain containing 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:73,852,991...73,861,996
Ensembl chr 8:73,852,996...73,862,001

G

Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,659,363...106,718,956
Ensembl chr 3:106,659,308...106,718,970

G

ryanodine receptor 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961

G

stabilizer of axonemal microtubules 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:136,596,445...136,638,444
Ensembl chr 1:136,623,493...136,638,454

G

secretory carrier membrane protein 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:57,965,612...57,992,248
Ensembl chr 8:57,965,631...57,992,646

G

secretory carrier membrane protein 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:57,845,831...57,884,516
Ensembl chr 8:57,846,659...57,872,027

G

S-phase cyclin A-associated protein in the ER

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:55,932,717...56,332,222
Ensembl chr 8:55,933,306...56,332,122

G

small Cajal body-specific RNA 15

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:135,484,620...135,484,683
Ensembl chr 1:135,484,559...135,484,685
Ensembl chr 1:135,484,559...135,484,685

G

secretogranin III

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:76,399,777...76,442,015
Ensembl chr 8:76,399,777...76,442,015

G

secretogranin V

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:100,544,101...100,588,558
Ensembl chr 3:100,544,099...100,588,463

G

SEC11 homolog A, signal peptidase complex subunit

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:134,881,448...134,909,427
Ensembl chr 1:134,875,265...134,915,069

G

SECIS binding protein 2-like

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:112,989,613...113,036,060
Ensembl chr 3:112,991,908...113,035,884

G

semaphorin 4B

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:134,136,646...134,177,777
Ensembl chr 1:134,149,536...134,177,775

G

semaphorin 6D

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:111,883,415...111,941,100
Ensembl chr 3:111,883,872...111,941,094

G

semaphorin 7A (John Milton Hagen blood group)

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:58,348,448...58,370,536
Ensembl chr 8:58,348,448...58,370,536

G

SUMO peptidase family member, NEDD8 specific

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:60,135,446...60,148,836
Ensembl chr 8:60,121,714...60,148,928

G

small EDRK-rich factor 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:108,426,960...108,430,736
Ensembl chr 3:108,426,887...108,430,724

G

serine incorporator 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:108,428,896...108,434,778
Ensembl chr 3:108,428,897...108,434,778

G

SH2 domain containing 7

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:54,918,399...54,930,129
Ensembl chr 8:54,918,406...54,929,726

G

SH3 domain containing GRB2 like 3, endophilin A3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:136,124,500...136,255,669
Ensembl chr 1:136,124,499...136,255,584

G

SHC adaptor protein 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:112,880,598...112,974,216
Ensembl chr 3:112,880,600...112,974,366

G

Src homology 2 domain containing F

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:109,296,517...109,316,315
Ensembl chr 3:109,296,784...109,316,328

G

SIN3 transcription regulator family member A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192

G

SKI8 subunit of superkiller complex

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:55,103,542...55,120,837
Ensembl chr 8:55,103,545...55,120,813

G

SKI family transcriptional corepressor 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:63,599,153...63,609,727
Ensembl chr 8:63,599,165...63,607,756

G

solute carrier family 12 member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899

G

solute carrier family 12, member 6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258

G

solute carrier family 24 member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:65,440,842...65,466,001
Ensembl chr 8:65,440,730...65,466,001

G

solute carrier family 24 member 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:112,319,349...112,338,889
Ensembl chr 3:112,319,308...112,339,231

G

solute carrier family 27 member 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:113,804,728...113,842,208
Ensembl chr 3:113,804,728...113,842,208

G

solute carrier family 28 member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:135,079,375...135,122,791
Ensembl chr 1:135,081,385...135,122,464

G

solute carrier family 28 member 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:109,324,815...109,387,702
Ensembl chr 3:109,366,996...109,387,702

G

solute carrier family 30 member 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:109,753,270...109,775,306
Ensembl chr 3:109,753,273...109,775,306

G

SLC51 subunit beta

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:65,931,891...65,939,953
Ensembl chr 8:65,931,890...65,940,145

G

SAFB-like, transcription modulator

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:71,215,995...71,261,821
Ensembl chr 8:71,216,612...71,261,825

G

SMAD family member 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960

G

SMAD family member 6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763

G

synaptosome associated protein 23

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:107,514,088...107,546,177
Ensembl chr 3:107,514,131...107,544,320

G

small nuclear RNA activating complex, polypeptide 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:64,677,204...64,680,769
Ensembl chr 8:64,677,205...64,681,964

G

snurportin 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:57,347,412...57,388,345
Ensembl chr 8:57,348,130...57,380,912

G

sorting nexin 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:66,630,086...66,670,418
Ensembl chr 8:66,630,086...66,670,360

G

sorting nexin 22

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:66,609,914...66,612,932
Ensembl chr 8:66,609,970...66,612,850

G

sorting nexin 33

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:57,315,861...57,328,522
Ensembl chr 8:57,317,161...57,327,538

G

sorbitol dehydrogenase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133

G

sperm equatorial segment protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:62,751,313...62,766,657
Ensembl chr 8:62,751,297...62,766,718

G

SPG11 vesicle trafficking associated, spatacsin

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911

G

SPG21 abhydrolase domain containing, maspardin

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:65,980,992...66,008,537
Ensembl chr 8:65,980,962...66,008,536

G

serine peptidase inhibitor, Kunitz type 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,231,082...106,244,121
Ensembl chr 3:106,231,444...106,244,119

G

signal peptide peptidase-like 2A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:114,149,337...114,193,408
Ensembl chr 3:114,151,069...114,193,264

G

sprouty-related, EVH1 domain containing 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718

G

spectrin, beta, non-erythrocytic 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:107,013,783...107,054,878
Ensembl chr 3:107,013,265...107,054,324

G

sulfide quinone oxidoreductase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:109,841,225...109,886,724
Ensembl chr 3:109,841,250...109,960,778

G

signal recognition particle 14

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:105,442,184...105,445,875
Ensembl chr 3:105,442,198...105,445,859

G

StAR-related lipid transfer domain containing 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:137,606,151...137,616,017
Ensembl chr 1:137,606,177...137,616,469

G

StAR-related lipid transfer domain containing 9

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:107,581,097...107,672,746
Ensembl chr 3:107,581,164...107,673,898

G

stomatin like 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:58,661,980...58,669,860
Ensembl chr 8:58,661,992...58,669,860

G

signaling receptor and transporter of retinol STRA6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860

G

stereocilin

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134

G

TBC1 domain family, member 21

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:58,761,562...58,773,711
Ensembl chr 8:58,761,563...58,773,711

G

TBC1 domain family, member 2B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:90,746,220...90,814,867
Ensembl chr 8:90,746,233...90,814,832

G

transcription factor 12

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:72,490,447...72,799,265
Ensembl chr 8:72,492,567...72,799,201

G

telomere repeat binding bouquet formation protein 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:109,138,343...109,156,700
Ensembl chr 3:109,138,343...109,156,683

G

testis expressed 9

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:73,168,519...73,213,935
Ensembl chr 8:73,177,810...73,214,261

G

transglutaminase 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:108,008,087...108,044,013
Ensembl chr 3:108,008,143...108,043,976

G

transglutaminase 7

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:108,051,890...108,068,116
Ensembl chr 3:108,051,890...108,076,239

G

thrombospondin 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440

G

thrombospondin type 1 domain containing 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:60,384,636...60,984,419
Ensembl chr 8:60,386,875...61,024,995

G

TOPBP1-interacting checkpoint and replication regulator

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:133,597,618...133,639,513
Ensembl chr 1:133,597,716...133,639,523

G

timeless interacting protein

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:64,780,813...64,801,358
Ensembl chr 8:64,780,828...64,801,352

G

TLE family member 3, transcriptional corepressor

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:61,857,791...61,903,505
Ensembl chr 8:61,858,200...61,903,493

G

talin 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:67,830,920...68,252,240
Ensembl chr 8:67,834,326...68,252,219

G

talin rod domain containing 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:137,864,340...137,866,359
Ensembl chr 1:137,864,343...137,866,359

G

transmembrane 6 superfamily member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:135,799,844...135,828,515
Ensembl chr 1:135,786,381...135,828,443

G

transmembrane channel-like 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:137,552,347...137,597,477
Ensembl chr 1:137,552,455...137,597,633

G

transmembrane and coiled-coil domains 5A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:103,732,936...103,746,242
Ensembl chr 3:103,732,945...103,746,249

G

transmembrane p24 trafficking protein 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:90,241,516...90,249,429
Ensembl chr 8:90,241,516...90,249,346

G

transmembrane protein 202

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:59,910,824...59,919,342
Ensembl chr 8:59,910,824...59,916,609

G

transmembrane protein 266

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:55,707,122...55,820,692
Ensembl chr 8:55,707,122...55,820,692

G

transmembrane protein 62

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:107,921,940...107,961,830
Ensembl chr 3:107,927,307...107,961,795

G

transmembrane protein 87A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:107,307,726...107,353,571
Ensembl chr 3:107,307,726...107,353,551

G

tropomodulin 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:76,316,736...76,366,003
Ensembl chr 8:76,325,667...76,365,720

G

tropomodulin 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:76,248,978...76,310,855
Ensembl chr 8:76,248,979...76,310,977

G

TNF alpha induced protein 8 like 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:54,413,503...54,455,512
Ensembl chr 8:54,414,457...54,500,079

G

tumor protein p53 binding protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:108,166,574...108,270,229
Ensembl chr 3:108,169,980...108,269,822

G

tropomyosin 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802

G

tripartite motif-containing 69

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:109,111,468...109,135,255
Ensembl chr 3:109,111,468...109,132,037

G

thyroid hormone receptor interactor 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:66,351,861...66,439,679
Ensembl chr 8:66,353,248...66,439,774

G

transient receptor potential cation channel, subfamily M, member 7

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190

G

tetraspanin 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:56,546,067...56,569,815
Ensembl chr 8:56,546,069...56,569,880

G

tau tubulin kinase 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:107,691,123...107,802,911
Ensembl chr 3:107,697,340...107,803,223

G

tubulin gamma complex component 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:108,141,081...108,172,207
Ensembl chr 3:108,141,625...108,169,437

G

TYRO3 protein tyrosine kinase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,777,686...106,797,154
Ensembl chr 3:106,777,635...106,797,142

G

uveal autoantigen with coiled-coil domains and ankyrin repeats

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:61,259,415...61,347,789
Ensembl chr 8:61,259,477...61,347,789

G

ubiquitin associated protein 1-like

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:65,877,488...65,897,593
Ensembl chr 8:65,884,729...65,897,593

G

ubiquitin conjugating enzyme E2 Q2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:55,518,402...55,578,342
Ensembl chr 8:55,519,147...55,577,212

G

ubiquitin-like 7

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:58,321,279...58,340,353
Ensembl chr 8:58,320,866...58,340,344

G

ubiquitin protein ligase E3 component n-recognin 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:107,813,721...107,921,701
Ensembl chr 3:107,811,392...107,922,204

G

unc-51 like kinase 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:57,992,396...58,000,220
Ensembl chr 8:57,992,723...57,999,467

G

unc-13 homolog C

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:74,247,026...74,697,629
Ensembl chr 8:74,247,899...74,673,223

G

unc-45 myosin chaperone A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:134,281,930...134,296,661
Ensembl chr 1:134,281,933...134,301,586

G

uracil-DNA glycosylase

CTD Direct Evidence: marker/mechanism

NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206

G

ubiquitin specific peptidase 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:67,078,249...67,154,109
Ensembl chr 8:67,079,927...67,154,111

G

ubiquitin specific peptidase 50

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:114,012,104...114,035,468
Ensembl chr 3:114,011,702...114,035,476

G

ubiquitin specific peptidase 8

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666

G

vacuolar protein sorting 13 homolog C

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:68,478,366...68,651,893
Ensembl chr 8:68,478,395...68,651,895

G

VPS18 core subunit of CORVET and HOPS complexes

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,279,444...106,290,298
Ensembl chr 3:106,279,425...106,291,964

G

VPS39 subunit of HOPS complex

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:107,266,846...107,304,884
Ensembl chr 3:107,267,310...107,304,975

G

WD repeat domain 72

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229

G

WD repeat domain 73

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479

G

WD repeat domain 76

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:108,456,784...108,491,528
Ensembl chr 3:108,456,815...108,490,840

G

WD repeat domain 93

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:133,687,254...133,737,449
Ensembl chr 1:133,687,248...133,733,630

G

WASP homolog associated with actin, golgi membranes and microtubules

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:135,526,363...135,557,091
Ensembl chr 1:135,526,386...135,554,759

G

zinc finger AN1-type containing 6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:138,581,002...138,652,052
Ensembl chr 1:138,581,002...138,651,939

G

zinc finger protein 106

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:107,459,232...107,510,507
Ensembl chr 3:107,462,096...107,510,481

G

zinc finger protein 280D

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:72,992,655...73,080,482
Ensembl chr 8:72,992,650...73,080,480

G

zinc finger protein 592

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443

G

zinc finger protein 609

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:66,214,553...66,349,319
Ensembl chr 8:66,214,555...66,317,977

G

zinc finger protein 710

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr 1:133,966,256...134,036,593
Ensembl chr 1:134,024,267...134,036,601

G

zinc finger protein 770

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:100,963,430...100,971,663
Ensembl chr 3:100,963,427...100,971,684

G

zinc finger FYVE-type containing 19

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:106,195,779...106,203,969
Ensembl chr 3:106,195,899...106,203,969

G

zinc finger and SCAN domain containing 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 1:134,833,701...134,848,957
Ensembl chr 1:134,833,871...134,848,952

G

zinc finger and SCAN domain containing 29, pseudogene 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 3:108,136,468...108,140,431

G

zwilch kinetochore protein

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr 8:64,638,401...64,670,911
Ensembl chr 8:64,637,672...64,675,916

brain small vessel disease 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type IV alpha 1 chain

ClinVar Annotator: match by term: Porencephaly 2

NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412

G

collagen type IV alpha 2 chain

susceptibility

ClinVar Annotator: match by term: COL4A2-related condition | ClinVar Annotator: match by term: COL4A2-related disorder | ClinVar Annotator: match by term: Porencephaly 2

PMID:9536098 PMID:16199547 PMID:17576681 PMID:22209246 PMID:22209247 More...

NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839

Cardiofacioneurodevelopmental Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain containing 32

ClinVar Annotator: match by term: Cardiofacioneurodevelopmental syndrome

PMID:25741868 PMID:32307552 PMID:35451546

NCBI chr 3:105,998,429...106,010,985
Ensembl chr 3:105,998,430...106,010,975

Christianson syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adhesion G protein-coupled receptor G4

ClinVar Annotator: match by term: Christianson syndrome

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chr X:134,734,610...134,864,449
Ensembl chr X:134,854,736...134,864,449

G

Rac/Cdc42 guanine nucleotide exchange factor 6

ClinVar Annotator: match by term: Christianson syndrome

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chr X:135,145,447...135,264,636
Ensembl chr X:135,146,786...135,275,304

G

bombesin receptor subtype 3

ClinVar Annotator: match by term: Christianson syndrome

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chr X:134,906,817...134,932,321
Ensembl chr X:134,906,784...134,930,983

G

CD40 ligand

ClinVar Annotator: match by term: Christianson syndrome

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

cyclin-dependent kinase-like 5

ClinVar Annotator: match by term: Angelman syndrome-like

PMID:15499549 PMID:16015284 PMID:16611748 PMID:16813600 PMID:17993579 More...

NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582

G

four and a half LIM domains 1

ClinVar Annotator: match by term: Christianson syndrome

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928

G

G protein-coupled receptor 101

ClinVar Annotator: match by term: Christianson syndrome

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958

G

HIVEP zinc finger 2

ClinVar Annotator: match by term: Angelman syndrome-like

NCBI chr 1:8,358,205...8,555,993
Ensembl chr 1:8,359,289...8,555,993

G

HIV-1 Tat specific factor 1

ClinVar Annotator: match by term: Christianson syndrome

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chr X:134,935,426...134,949,607
Ensembl chr X:134,935,426...134,949,607

G

MAP7 domain containing 3

ClinVar Annotator: match by term: Christianson syndrome

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chr X:134,619,227...134,647,525
Ensembl chr X:134,619,227...134,685,841

G

RNA binding motif protein, X-linked

ClinVar Annotator: match by term: Christianson syndrome

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743

G

retinoschisin 1

ClinVar Annotator: match by term: Angelman syndrome-like

PMID:15499549 PMID:16813600 PMID:18414213 PMID:19241098 PMID:20479760 More...

NCBI chr X:33,962,440...33,992,203
Ensembl chr X:33,963,657...33,992,115

G

solute carrier family 9 member A6

ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type
OMIM:300243
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:9536098 PMID:15319456 PMID:15358621 PMID:16019685 PMID:16199547 More...

NCBI chr X:134,430,677...134,486,747
Ensembl chr X:134,420,756...134,485,375

G

vestigial-like family member 1

ClinVar Annotator: match by term: Christianson syndrome

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chr X:134,979,657...134,996,007

G

Zic family member 3

ClinVar Annotator: match by term: Christianson syndrome

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chr X:136,123,662...136,129,627
Ensembl chr X:136,124,026...136,134,746

chromosome 15q26-qter deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif, 17

ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome

NCBI chr 1:120,445,800...120,768,204
Ensembl chr 1:120,445,749...120,768,202

G

aldehyde dehydrogenase 1 family, member A3

ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome

NCBI chr 1:119,982,272...120,017,416
Ensembl chr 1:119,982,277...120,017,436

G

ankyrin repeat and SOCS box-containing 7

ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome

NCBI chr 1:120,222,835...120,267,411
Ensembl chr 1:120,222,745...120,267,282

G

ceramide synthase 3

ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome

NCBI chr 1:120,316,930...120,422,926
Ensembl chr 1:120,318,212...120,422,902

G

chondroitin sulfate synthase 1

ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome

NCBI chr 1:119,689,626...119,750,711
Ensembl chr 1:119,686,350...119,750,601

G

insulin-like growth factor 1 receptor

ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome

NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777

G

lines homolog 1

ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome

NCBI chr 1:120,267,586...120,295,013
Ensembl chr 1:120,267,693...120,293,607

G

leucine rich repeat containing 28

ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome

NCBI chr 1:121,116,833...121,245,805
Ensembl chr 1:121,127,733...121,245,784

G

leucine-rich repeat kinase 1

ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome

NCBI chr 1:119,844,360...119,972,885
Ensembl chr 1:119,845,146...119,979,734

G

LysM domain containing 4

ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome

NCBI chr 1:120,839,180...120,845,148
Ensembl chr 1:120,839,282...120,845,135

G

myocyte enhancer factor 2a

ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome

NCBI chr 1:120,847,874...120,982,488
Ensembl chr 1:120,850,080...120,981,948

G

pyroglutamyl-peptidase I-like

ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome

NCBI chr 1:121,835,243...121,868,368
Ensembl chr 1:121,840,697...121,869,407

G

synemin

ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome

NCBI chr 1:121,333,712...121,363,652
Ensembl chr 1:121,333,720...121,363,652

G

tetratricopeptide repeat domain 23

ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome

NCBI chr 1:121,245,996...121,329,500
Ensembl chr 1:121,248,084...121,329,494

chromosome 17q11.2 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ring finger protein 135

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome

PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More...

NCBI chr10:65,170,560...65,189,791
Ensembl chr10:65,170,560...65,262,804

chromosome 1q21.1 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acid phosphatase 6, lysophosphatidic

ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome

NCBI chr 2:184,711,975...184,733,067
Ensembl chr 2:184,711,619...184,733,017

G

BCL9, transcription coactivator

ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome

NCBI chr 2:184,760,616...184,846,261
Ensembl chr 2:184,760,618...184,786,435

G

chromodomain helicase DNA binding protein 1-like

ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome

NCBI chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595

G

flavin containing dimethylaniline monoxygenase 5

ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome

NCBI chr 2:185,197,184...185,249,699
Ensembl chr 2:185,222,204...185,249,693

G

gap junction protein, alpha 5

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome

PMID:25741868 PMID:28492532

NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952

G

gap junction protein, alpha 8

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 1q21.1 Deletion | ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome

PMID:25741868 PMID:26694549 PMID:28492532 PMID:28827829 PMID:29464339

NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456

G

G protein-coupled receptor 89B

ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome

NCBI chr 2:184,408,136...184,445,560
Ensembl chr 2:184,401,438...184,445,584

G

protein kinase AMP-activated non-catalytic subunit beta 2

ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome

NCBI chr 2:185,257,218...185,272,846
Ensembl chr 2:185,257,213...185,269,872

CK syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NAD(P) dependent steroid dehydrogenase-like

ClinVar Annotator: match by term: CK syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICAL MALFORMATION

PMID:18414213 PMID:19377476 PMID:21129721 PMID:25741868 PMID:28492532

NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142

cleft palate, cardiac defects, and intellectual disabillity

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Meis homeobox 2

ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | ClinVar Annotator: match by term: MEIS2-related disorder
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:17576681 PMID:24678003 PMID:25712757 PMID:25741868 More...

NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696

Cohen syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat domain 46

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:67,647,202...67,668,180
Ensembl chr 7:67,647,204...67,668,132

G

ATPase H+ transporting V1 subunit C1

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:69,834,464...69,872,278
Ensembl chr 7:69,834,463...69,872,278

G

antizyme inhibitor 1

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:69,654,773...69,681,578
Ensembl chr 7:69,654,663...69,681,578

G

BAALC binder of MAP3K1 and KLF4

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:69,918,998...69,992,289
Ensembl chr 7:69,918,998...69,992,288

G

cytochrome c oxidase subunit 6C

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:67,129,265...67,142,001
Ensembl chr 7:67,111,024...67,141,963

G

collagen triple helix repeat containing 1

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:70,122,474...70,132,756
Ensembl chr 7:70,122,474...70,132,756

G

DDB1 and CUL4 associated factor 13

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:70,160,983...70,196,142
Ensembl chr 7:70,160,941...70,196,142

G

dendrocyte expressed seven transmembrane protein

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:70,807,455...70,822,067
Ensembl chr 7:70,807,581...70,822,078

G

dihydropyrimidinase

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:70,822,648...70,929,255
Ensembl chr 7:70,835,789...70,929,231

G

F-box protein 43

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:67,333,161...67,346,751
Ensembl chr 7:67,333,162...67,346,751

G

frizzled class receptor 6

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776

G

grainyhead-like transcription factor 2

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258

G

potassium voltage-gated channel, modifier subfamily S, member 2

ClinVar Annotator: match by term: Cohen syndrome

PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532

NCBI chr 7:66,022,352...66,028,422
Ensembl chr 7:66,022,352...66,028,422

G

KLF transcription factor 10

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:69,467,658...69,473,726
Ensembl chr 7:69,465,619...69,473,994

G

LDL receptor related protein 12

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:70,941,068...71,012,409
Ensembl chr 7:70,941,068...71,012,441

G

microRNA 875

ClinVar Annotator: match by term: Cohen syndrome

PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532

NCBI chr 7:66,861,955...66,862,027
Ensembl chr 7:66,861,955...66,862,027

G

myosin VIIA

ClinVar Annotator: match by term: Cohen syndrome

PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157

G

neurocalcin delta

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:68,532,671...68,964,740
Ensembl chr 7:68,534,421...68,964,496

G

NIPA-like domain containing 2

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:65,774,477...65,884,807
Ensembl chr 7:65,774,477...65,884,807

G

outer dense fiber of sperm tails 1

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:69,377,427...69,389,662
Ensembl chr 7:69,380,116...69,389,664

G

odd-skipped related transciption factor 2

ClinVar Annotator: match by term: Cohen syndrome

PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532

NCBI chr 7:66,487,841...66,495,003
Ensembl chr 7:66,487,839...66,495,224

G

poly(A) binding protein, cytoplasmic 1

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:67,777,438...67,789,731
Ensembl chr 7:67,777,381...67,789,744

G

RNA polymerase II, I and III subunit K

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:67,347,118...67,359,466
Ensembl chr 7:67,356,113...67,357,668

G

POP1 homolog, ribonuclease P/MRP subunit

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141

G

regulator of G-protein signaling 22

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:67,188,531...67,308,805
Ensembl chr 7:67,188,519...67,308,875

G

regulating synaptic membrane exocytosis 2

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:70,248,104...70,759,134
Ensembl chr 7:70,243,872...70,757,491

G

ring finger protein 19A, RBR E3 ubiquitin protein ligase

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:67,425,833...67,465,214
Ensembl chr 7:67,425,837...67,465,222

G

ribonucleotide reductase regulatory TP53 inducible subunit M2B

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633

G

solute carrier family 25 member 32

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:70,142,958...70,160,726
Ensembl chr 7:70,142,964...70,160,770

G

sorting nexin 31

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:67,676,514...67,776,925
Ensembl chr 7:67,676,524...67,732,086

G

sperm associated antigen 1

ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition

PMID:25741868 PMID:28492532

NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368

G

serine/threonine kinase 3

ClinVar Annotator: match by term: Cohen syndrome

PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532

NCBI chr 7:66,053,209...66,323,292
Ensembl chr 7:66,052,345...66,323,233

G

ubiquitin protein ligase E3 component n-recognin 5

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:69,115,216...69,224,843
Ensembl chr 7:69,116,761...69,224,903

G

vacuolar protein sorting 13 homolog B

ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: Pepper syndrome | ClinVar Annotator: match by term: VPS13B-related condition
OMIM:216550
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 More...

NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429

G

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:67,941,353...67,963,651
Ensembl chr 7:67,940,017...67,963,668

G

zinc finger protein 706

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:68,167,496...68,174,121
Ensembl chr 7:68,166,323...68,174,148

G

zinc finger protein, multitype 2

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205

COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

melanocyte inducing transcription factor

ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness

PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27884168 More...

NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145

Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mesencephalic astrocyte-derived neurotrophic factor

ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome

PMID:26077850 PMID:33500254

NCBI chr 8:107,500,856...107,551,595
Ensembl chr 8:107,548,352...107,551,438

Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protocadherin 12

ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1

PMID:7774041 PMID:22822038 PMID:25741868 PMID:27164683 PMID:28492532 More...

NCBI chr18:30,103,728...30,119,307
Ensembl chr18:30,103,728...30,119,307

G

ring finger protein 14

ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1

PMID:7774041 PMID:22822038 PMID:25741868 PMID:27164683 PMID:28492532 More...

NCBI chr18:30,131,627...30,155,686
Ensembl chr18:30,131,691...30,155,685

Faundes-Banka Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA dehydrogenase, very long chain

ClinVar Annotator: match by term: Faundes-Banka syndrome

NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075

G

asialoglycoprotein receptor 1

ClinVar Annotator: match by term: Faundes-Banka syndrome

NCBI chr10:54,775,727...54,779,642
Ensembl chr10:54,776,024...54,779,631

G

asialoglycoprotein receptor 2

ClinVar Annotator: match by term: Faundes-Banka syndrome

NCBI chr10:54,821,407...54,834,624
Ensembl chr10:54,821,438...54,834,617

G

claudin 7

ClinVar Annotator: match by term: Faundes-Banka syndrome

NCBI chr10:54,689,684...54,692,177
Ensembl chr10:54,689,987...54,692,171

G

CTD nuclear envelope phosphatase 1

ClinVar Annotator: match by term: Faundes-Banka syndrome

NCBI chr10:54,704,367...54,713,781
Ensembl chr10:54,704,148...54,713,781

G

discs large MAGUK scaffold protein 4

ClinVar Annotator: match by term: Faundes-Banka syndrome

NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153

G

dishevelled segment polarity protein 2

ClinVar Annotator: match by term: Faundes-Banka syndrome

NCBI chr10:54,723,356...54,732,823
Ensembl chr10:54,723,411...54,732,820

G

eukaryotic translation initiation factor 5A

ClinVar Annotator: match by term: Faundes-Banka syndrome

PMID:25741868 PMID:31690835 PMID:33547280

NCBI chr10:54,640,104...54,644,845
Ensembl chr10:54,640,024...54,644,656

G

elongator acetyltransferase complex subunit 5

ClinVar Annotator: match by term: Faundes-Banka syndrome

NCBI chr10:54,692,526...54,704,255
Ensembl chr10:54,692,530...54,704,923

G

GABA type A receptor-associated protein

ClinVar Annotator: match by term: Faundes-Banka syndrome

NCBI chr10:54,714,777...54,718,099
Ensembl chr10:54,714,198...54,717,765

G

G protein pathway suppressor 2

ClinVar Annotator: match by term: Faundes-Banka syndrome

NCBI chr10:54,637,360...54,640,542
Ensembl chr10:54,637,455...54,640,650

G

neuralized E3 ubiquitin protein ligase 4

ClinVar Annotator: match by term: Faundes-Banka syndrome

NCBI chr10:54,624,923...54,637,262
Ensembl chr10:54,625,642...54,637,258

G

PHD finger protein 23

ClinVar Annotator: match by term: Faundes-Banka syndrome

NCBI chr10:54,718,663...54,722,784
Ensembl chr10:54,717,724...54,722,782

G

solute carrier family 2 member 4

ClinVar Annotator: match by term: Faundes-Banka syndrome

NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565

G

Y box binding protein 2

ClinVar Annotator: match by term: Faundes-Banka syndrome

NCBI chr10:54,659,719...54,665,371
Ensembl chr10:54,659,719...54,665,371

Feingold syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MYCN proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brunner Winter syndrome | ClinVar Annotator: match by term: Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum | ClinVar Annotator: match by term: MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE | ClinVar Annotator: match by term: Microcephaly-oculo-digito-esophageal-duodenal syndrome

PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 PMID:19852433 More...

NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590

Feingold Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: MYCN-related condition

PMID:25741868 PMID:28492532 PMID:30573562 PMID:37710961

NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590

FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase Na+/K+ transporting subunit alpha 2

ClinVar Annotator: match by term: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies

PMID:15159495 PMID:15174025 PMID:17142831 PMID:18414213 PMID:18728015 More...

NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544

Filippi syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytoskeleton associated protein 2-like

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Filippi syndrome

OMIM
CTD
ClinVar

PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 More...

NCBI chr 3:116,497,186...116,524,302
Ensembl chr 3:116,498,022...116,524,366

Focal Cortical Dysplasia of Taylor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 4

protein:decreased expression, altered localization:cerebral cortex:

RGD

NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306

G

matrix metallopeptidase 9

protein:increased expression:cerebral cortex

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

mechanistic target of rapamycin kinase

ClinVar Annotator: match by term: Focal cortical dysplasia type 2
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:17360675 PMID:20190810 PMID:23636326 PMID:24631838 PMID:25741868 More...

NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311

G

TSC complex subunit 1

ClinVar Annotator: match by term: Cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia type 2 | ClinVar Annotator: match by term: Focal cortical dysplasia type II
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 More...

NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674

G

TSC complex subunit 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia type 2 | ClinVar Annotator: match by term: Focal cortical dysplasia type II

CTD
ClinVar
OMIM

PMID:8824881 PMID:9463313 PMID:9536098 PMID:9829910 PMID:10205261 More...

NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951