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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Genes (1378)

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 chr15:60,492,121...60,681,487
Ensembl chr15:60,491,029...60,617,911

G

biotinidase

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr15:60,433,035...60,470,600
Ensembl chr15:60,459,913...60,470,615

G

calpain 7

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr15:60,050,488...60,096,369
Ensembl chr15:60,050,606...60,095,330

G

coiled-coil domain containing 174

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr22:50,595,136...50,616,165
Ensembl chr22:50,595,175...50,614,691

G

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

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr22:50,055,130...50,067,917
Ensembl chr22:50,054,007...50,067,940

G

collagen like tail subunit of asymmetric acetylcholinesterase

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr15:60,284,557...60,395,745

G

chromosome unknown C3orf20 homolog

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr22:50,625,471...50,707,021
Ensembl chr22:50,626,334...50,707,023

G

deleted in azoospermia like

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr15:61,398,284...61,413,222
Ensembl chr15:61,398,400...61,407,054

G

diphthamide biosynthesis 3

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr15:61,103,247...61,111,114
Ensembl chr15:61,103,102...61,111,115

G

ELL associated factor 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr15:60,261,013...60,277,177
Ensembl chr15:60,260,967...60,277,626

G

EF-hand domain family member B

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr15:64,608,440...64,679,276
Ensembl chr15:64,608,604...64,661,298

G

fibulin 2

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr22:49,540,316...49,630,380
Ensembl chr22:49,564,822...49,630,409

G

FYVE, RhoGEF and PH domain containing 5

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr22:50,746,210...50,868,659
Ensembl chr22:50,746,303...50,870,049

G

polypeptide N-acetylgalactosaminyltransferase 15

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr15:61,022,733...61,078,748
Ensembl chr15:61,023,741...61,073,958

G

glutamate receptor interacting protein 2

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr22:50,429,351...50,546,403
Ensembl chr22:50,433,405...50,468,769

G

2-hydroxyacyl-CoA lyase 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr15:60,360,380...60,433,528
Ensembl chr15:60,322,722...60,433,647

G

histone deacetylase 11

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr22:49,470,443...49,497,692
Ensembl chr22:49,471,368...49,498,178

G

lysine acetyltransferase 2B

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr15:64,769,590...64,885,536
Ensembl chr15:64,770,185...64,886,219

G

potassium voltage-gated channel subfamily H member 8

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr15:63,954,331...64,334,300

G

LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr22:50,121,674...50,141,071

G

methyltransferase 6, tRNA N3-cytidine

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr15:60,219,348...60,261,030
Ensembl chr15:60,245,126...60,259,957

G

mitochondrial ribosomal protein S25

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr22:50,985,398...50,997,596
Ensembl chr22:50,984,775...50,997,581

G

nuclear receptor subfamily 2 group C member 2

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr22:50,882,569...50,983,851
Ensembl chr22:50,894,802...50,977,581

G

nucleoporin 210

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr22:49,299,689...49,409,508

G

oxidoreductase NAD binding domain containing 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr15:61,111,355...61,148,582

G

phospholipase C like 2

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr15:61,745,338...61,940,176
Ensembl chr15:61,745,163...61,942,655

G

protein phosphatase 2C like domain containing 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr15:64,715,191...64,741,586

G

RAB5A, member RAS oncogene family

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr15:64,678,910...64,715,228
Ensembl chr15:64,682,723...64,713,928

G

rabenosyn, RAB effector

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr22:51,004,739...51,031,379
Ensembl chr22:51,002,196...51,028,955

G

raftlin, lipid raft linker 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr15:61,159,573...61,290,342
Ensembl chr15:61,159,930...61,289,965

G

SATB homeobox 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr15:63,163,989...63,263,122
Ensembl chr15:63,170,243...63,263,149

G

SET domain containing 5

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr22:45,391,871...45,475,183
Ensembl chr22:45,430,660...45,475,217

G

SH3 domain binding protein 5

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr15:60,098,901...60,175,421
Ensembl chr15:60,100,132...60,175,349

G

solute carrier family 6 member 6

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr22:50,344,781...50,431,765
Ensembl chr22:50,344,805...50,431,766

G

TBC1 domain family member 5

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr15:62,009,952...62,569,187
Ensembl chr15:62,006,701...62,358,449

G

THUMP domain containing 3

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr22:45,355,889...45,378,134
Ensembl chr22:45,355,579...45,377,941

G

transmembrane protein 43

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr22:50,068,053...50,085,094
Ensembl chr22:50,068,095...50,086,648

G

Wnt family member 7A

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr22:49,805,415...49,863,115
Ensembl chr22:49,805,463...49,862,830

G

XPC complex subunit, DNA damage recognition and repair factor

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr22:50,088,019...50,121,584
Ensembl chr22:50,085,353...50,121,542

Al-Raqad Syndrome

term browser

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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 1:117,430,713...117,470,489
Ensembl chr 1:117,430,993...117,474,986

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

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

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

NCBI chr16:46,380,665...46,403,532
Ensembl chr16:46,381,271...46,403,360

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 chr 8:39,912,120...40,035,776
Ensembl chr 8:39,911,776...39,962,735

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 chr21:51,244,514...51,264,694
Ensembl chr21:51,247,742...51,265,241

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 4:13,846,753...14,214,647
Ensembl chr 4:13,847,936...14,215,164

Bannayan-Riley-Ruvalcaba syndrome

term browser

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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 chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239

G

killin, p53 regulated DNA replication inhibitor

ClinVar Annotator: match by term: Cowden syndrome 1

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

NCBI chr 9:81,304,883...81,307,162

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 chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316

G

phosphatase and tensin homolog

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

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

NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

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 chr20:115,537,880...115,571,150
Ensembl chr20:115,538,026...115,571,142

Baralle-Macken Syndrome

term browser

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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 1:50,380,971...50,426,019
Ensembl chr 1:50,380,892...50,425,701

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 6:42,979,616...42,994,901
Ensembl chr 6:42,979,674...42,994,865

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 chr26:34,637,916...34,877,499
Ensembl chr26:34,638,838...34,879,217

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 chr 5:2,767,338...2,771,040
Ensembl chr 5:2,767,634...2,771,812

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 chr26:16,249,811...16,310,633
Ensembl chr26:16,250,327...16,310,836

G

abhydrolase domain containing 17C, depalmitoylase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:2,633,997...2,695,187

G

abhydrolase domain containing 2, acylglycerol lipase

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr29:7,631,436...7,742,209
Ensembl chr29:7,631,412...7,740,394

G

aggrecan

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr29:7,345,350...7,416,951

G

acyl-CoA synthetase bubblegum family member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:5,117,740...5,183,164
Ensembl chr26:5,117,818...5,185,418

G

actin alpha cardiac muscle 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:48,105,271...48,110,670
Ensembl chr26:48,105,216...48,110,896

G

ADAM metallopeptidase domain 10

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:24,768,827...24,921,169
Ensembl chr26:24,768,915...24,919,009

G

ADAM metallopeptidase with thrombospondin type 1 motif 7

ClinVar Annotator: match by term: Bloom syndrome

G

ADAMTS like 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:1,592,205...1,974,406
Ensembl chr29:1,592,300...1,972,722

G

ADP dependent glucokinase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:10,693,211...10,726,606
Ensembl chr26:10,693,291...10,725,594

G

apoptosis enhancing nuclease

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:7,160,445...7,172,082
Ensembl chr29:7,165,964...7,172,304

G

AFG2 AAA ATPase homolog B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:37,793,373...37,812,921
Ensembl chr26:37,793,379...37,811,582

G

AGBL carboxypeptidase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:4,702,646...5,528,743
Ensembl chr29:4,703,207...5,294,973

G

A-kinase anchoring protein 13

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:4,009,921...4,364,226
Ensembl chr29:4,106,732...4,359,516

G

aldehyde dehydrogenase 1 family member A2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:25,439,159...25,557,199
Ensembl chr26:25,439,360...25,557,202

G

alpha kinase 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:3,484,483...3,544,016
Ensembl chr29:3,486,947...3,542,798

G

ankyrin repeat and death domain containing 1A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:18,631,658...18,672,006
Ensembl chr26:18,629,575...18,667,567

G

ankyrin repeat domain 34C

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:4,093,311...4,110,125
Ensembl chr26:4,096,668...4,098,275

G

ankyrin repeat domain 63

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,732,737...42,736,964
Ensembl chr26:42,732,823...42,733,968

G

acidic nuclear phosphoprotein 32 family member A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:14,650,600...14,691,108
Ensembl chr26:14,653,745...14,691,492

G

alanyl aminopeptidase, membrane

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr29:8,324,094...8,354,491
Ensembl chr29:8,323,797...8,346,581

G

annexin A2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:23,100,000...23,147,687
Ensembl chr26:23,099,992...23,145,457

G

adaptor related protein complex 3 subunit beta 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:2,943,836...2,994,655
Ensembl chr29:2,943,919...2,994,700

G

adaptor related protein complex 4 subunit epsilon 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:32,358,432...32,447,207
Ensembl chr26:32,357,199...32,446,274

G

aph-1 homolog B, gamma-secretase subunit

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:20,236,666...20,265,167
Ensembl chr26:20,240,015...20,265,151

G

aquaporin 9

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:25,326,108...25,374,743
Ensembl chr26:25,326,087...25,373,336

G

aquarius intron-binding spliceosomal factor

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:47,927,167...48,036,764
Ensembl chr26:47,927,137...48,036,478

G

AT-rich interaction domain 3B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:8,884,391...8,943,803
Ensembl chr26:8,882,821...8,941,155

G

ariadne RBR E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:10,890,440...11,002,812
Ensembl chr26:10,893,735...11,002,159

G

aryl hydrocarbon receptor nuclear translocator 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:2,790,059...2,990,760
Ensembl chr26:2,794,372...2,990,814

G

cAMP regulated phosphoprotein 19

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:30,825,846...30,844,005
Ensembl chr26:30,826,359...30,843,251

G

atos homolog A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:30,687,636...30,813,611
Ensembl chr26:30,715,925...30,814,462

G

ATPase phospholipid transporting 8B4 (putative)

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:33,190,645...33,510,406
Ensembl chr26:33,256,406...33,446,584

G

apoptosis and caspase activation inhibitor

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:48,868,244...49,048,037
Ensembl chr26:48,868,475...49,050,258

G

beta-2-microglobulin

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:38,331,818...38,338,785
Ensembl chr26:38,331,442...38,338,809

G

bromo adjacent homology domain containing 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,543,308...42,572,880
Ensembl chr26:42,543,107...42,570,430

G

Bardet-Biedl syndrome 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:10,742,982...10,799,615
Ensembl chr26:10,743,850...10,775,908

G

BCL2 related protein A1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:3,451,773...3,461,215
Ensembl chr26:3,451,873...3,461,180

G

BCL2 like 10

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:31,274,015...31,277,377
Ensembl chr26:31,274,119...31,276,937

G

BLM RecQ like helicase

ClinVar Annotator: match by term: Bloom syndrome | ClinVar Annotator: match by term: Bloom-Torre-Machacek syndrome

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

NCBI chr29:9,046,485...9,152,320
Ensembl chr29:9,045,373...9,152,254

G

biogenesis of lysosomal organelles complex 1 subunit 6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:37,605,891...37,622,302
Ensembl chr26:37,604,412...37,622,083

G

Bcl2 modifying factor

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,893,997...42,915,062
Ensembl chr26:42,894,460...42,915,062

G

basonuclin zinc finger protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:2,331,958...2,360,832
Ensembl chr29:2,349,650...2,360,804

G

BCL2 interacting protein 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:23,821,350...23,846,130
Ensembl chr26:23,821,499...23,855,741

G

BTB domain containing 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:2,580,373...2,636,988
Ensembl chr29:2,580,441...2,637,084

G

BUB1 mitotic checkpoint serine/threonine kinase B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,769,955...42,855,353
Ensembl chr26:42,792,830...42,855,306

G

C2 calcium dependent domain containing 4A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:21,453,198...21,458,225
Ensembl chr26:21,455,439...21,456,554

G

C2 calcium dependent domain containing 4B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:21,359,297...21,361,910
Ensembl chr26:21,360,448...21,361,542

G

carbonic anhydrase 12

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:20,162,706...20,221,680
Ensembl chr26:20,162,926...20,224,502

G

calmodulin like 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:15,278,349...15,291,934

G

calpain 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:40,568,320...40,657,443
Ensembl chr26:40,568,885...40,625,597

G

cation channel sperm associated 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:39,300,273...39,325,846

G

coiled-coil domain containing 32

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,440,362...42,453,531
Ensembl chr26:42,440,392...42,452,713

G

coiled-coil domain containing 9B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,647,463...42,683,869
Ensembl chr26:42,674,301...42,680,175

G

cyclin B2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:24,389,654...24,408,976
Ensembl chr26:24,389,642...24,409,346

G

cyclin D1 binding protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:39,794,572...39,807,919
Ensembl chr26:39,797,083...39,807,827

G

cell cycle progression 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:28,029,124...28,076,609
Ensembl chr26:28,029,078...28,080,056

G

CD276 molecule

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:9,772,948...9,794,395

G

codanin 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:40,235,277...40,248,224
Ensembl chr26:40,235,297...40,250,757

G

CDAN1 interacting nuclease 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:46,135,826...46,364,476
Ensembl chr26:46,137,567...46,363,393

G

CUGBP Elav-like family member 6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:11,135,021...11,169,351
Ensembl chr26:11,135,088...11,166,493

G

cell migration inducing hyaluronidase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:2,440,075...2,611,636
Ensembl chr26:2,438,706...2,519,563

G

centrosomal protein 152

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:34,473,648...34,608,650
Ensembl chr26:34,473,757...34,546,842

G

cilia and flagella associated protein 161

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:2,242,522...2,257,405
Ensembl chr26:2,242,304...2,257,047

G

cingulin like 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:25,957,184...26,130,867
Ensembl chr26:25,956,942...26,067,530

G

ChaC glutathione specific gamma-glutamylcyclotransferase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,038,751...42,041,836
Ensembl chr26:42,038,528...42,041,760

G

calcineurin like EF-hand protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:41,734,698...41,785,273
Ensembl chr26:41,733,063...41,785,586

G

cholinergic receptor muscarinic 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:48,842,021...48,940,962
Ensembl chr26:48,842,779...48,844,377

G

cholinergic receptor nicotinic alpha 3 subunit

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:4,721,145...4,747,694
Ensembl chr26:4,722,489...4,737,164

G

cholinergic receptor nicotinic alpha 5 subunit

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:4,747,734...4,779,231
Ensembl chr26:4,749,766...4,776,822

G

cholinergic receptor nicotinic beta 4 subunit

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:4,700,217...4,717,363
Ensembl chr26:4,701,321...4,719,319

G

carbohydrate sulfotransferase 14

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,538,380...42,540,588
Ensembl chr26:42,539,203...42,540,333

G

cytosolic iron-sulfur assembly component 2A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:19,448,702...19,470,212
Ensembl chr26:19,448,903...19,469,756

G

calcium and integrin binding 1

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr29:8,777,202...8,781,027
Ensembl chr29:8,777,436...8,781,030

G

calcium and integrin binding family member 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:5,222,657...5,248,133
Ensembl chr26:5,222,902...5,248,191

G

cartilage intermediate layer protein

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:18,367,950...18,384,235
Ensembl chr26:18,370,640...18,384,222

G

ciliary microtubule associated protein 1C

ClinVar Annotator: match by term: Bloom syndrome

G

CDC like kinase 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:8,846,970...8,862,831

G

CLN6 transmembrane ER protein

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:15,259,186...15,278,249

G

caseinolytic mitochondrial matrix peptidase chaperone subunit X

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:18,401,593...18,441,286
Ensembl chr26:18,401,798...18,440,915

G

COMM domain containing 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:8,087,150...8,091,322
Ensembl chr26:8,086,872...8,089,301

G

COP9 signalosome subunit 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:34,136,457...34,167,810
Ensembl chr26:34,136,486...34,168,236

G

coronin 2B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:14,746,497...14,909,483
Ensembl chr26:14,746,379...14,895,951

G

cytochrome c oxidase subunit 5A, mitochondrial

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:8,533,410...8,551,818
Ensembl chr26:8,533,453...8,552,280

G

cytoplasmic polyadenylation element binding protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:3,005,891...3,106,732
Ensembl chr29:3,006,532...3,106,793

G

complexin 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:8,640,661...8,649,510
Ensembl chr26:8,641,551...8,645,155

G

cellular retinoic acid binding protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:4,987,927...4,996,431
Ensembl chr26:4,987,882...4,996,343

G

CREB regulated transcription coactivator 3

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr29:9,223,410...9,341,576
Ensembl chr29:9,223,409...9,341,514

G

C-terminal Src kinase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:8,667,657...8,688,850
Ensembl chr26:8,667,655...8,688,824

G

casein kinase 1 gamma 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:19,164,948...19,374,016
Ensembl chr26:19,164,986...19,372,834

G

chondroitin sulfate proteoglycan 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:7,735,972...7,761,355
Ensembl chr26:7,694,014...7,761,342

G

CTD small phosphatase like 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:38,516,044...38,626,963
Ensembl chr26:38,519,094...38,627,099

G

cathepsin H

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:4,451,731...4,473,220
Ensembl chr26:4,451,774...4,472,855

G

cortexin 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:35,081,624...35,091,836
Ensembl chr26:35,081,943...35,082,185

G

chromosome unknown C15orf39 homolog

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:8,249,619...8,259,065
Ensembl chr26:8,246,524...8,261,900

G

chromosome unknown C15orf40 homolog

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:2,641,930...2,652,387
Ensembl chr29:2,642,542...2,649,741

G

chromosome unknown C15orf48 homolog

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:37,780,940...37,783,855
Ensembl chr26:37,781,021...37,783,760

G

chromosome unknown C15orf61 homolog

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:15,968,332...15,978,000
Ensembl chr26:15,964,785...15,977,762

G

chromosome unknown C15orf62 homolog

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,234,247...42,238,692
Ensembl chr26:42,235,652...42,236,179

G

cytochrome P450 family 11 subfamily A member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:9,122,008...9,151,844

G

cytochrome P450 family 19 subfamily A member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:32,074,260...32,164,926
Ensembl chr26:32,132,425...32,164,277

G

cytochrome P450 family 1 subfamily A member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384

G

cytochrome P450 family 1 subfamily A member 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:8,727,996...8,733,254

G

death associated protein kinase 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:19,492,112...19,637,453

G

DENN domain containing 4A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:17,789,429...17,921,400
Ensembl chr26:17,789,271...17,923,744

G

DET1 partner of COP1 E3 ubiquitin ligase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:7,078,777...7,103,174
Ensembl chr29:7,078,578...7,096,486

G

DIS3 like exosome 3'-5' exoribonuclease

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:17,217,316...17,258,356
Ensembl chr26:17,216,558...17,257,942

G

dispatched RND transporter family member 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,644,040...42,658,280
Ensembl chr26:42,644,780...42,656,794

G

delta like canonical Notch ligand 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,056,473...42,066,283
Ensembl chr26:42,056,331...42,065,828

G

Dmx like 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:31,750,419...31,922,022
Ensembl chr26:31,750,403...31,922,208

G

dynein axonemal assembly factor 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:27,946,092...28,024,495

G

DnaJ heat shock protein family (Hsp40) member A4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:5,054,934...5,072,510
Ensembl chr26:5,056,668...5,072,459

G

DnaJ heat shock protein family (Hsp40) member C17

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,193,826...42,238,883
Ensembl chr26:42,193,852...42,238,811

G

diphthamine biosynthesis 6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:47,360,989...47,799,830
Ensembl chr26:47,361,674...47,539,119

G

dipeptidyl peptidase 8

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:18,063,446...18,136,230
Ensembl chr26:18,063,488...18,138,964

G

DTW domain containing 1

ClinVar Annotator: match by term: Bloom syndrome

G

dual oxidase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:38,038,093...38,073,993
Ensembl chr26:38,038,771...38,072,023

G

dual oxidase 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:38,090,053...38,110,781
Ensembl chr26:38,090,648...38,109,636

G

dual oxidase maturation factor 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:38,074,870...38,084,943
Ensembl chr26:38,074,775...38,086,340

G

dual oxidase maturation factor 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:38,084,943...38,089,701
Ensembl chr26:38,086,092...38,089,420

G

deoxyuridine triphosphatase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:34,941,775...34,954,184
Ensembl chr26:34,940,702...34,953,166

G

enhancer of mRNA decapping 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:8,784,894...8,846,616
Ensembl chr26:8,784,944...8,844,576

G

elongation factor like GTPase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:1,134,150...1,270,216
Ensembl chr26:1,134,208...1,270,885

G

EH domain containing 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:41,012,296...41,085,738
Ensembl chr26:41,012,991...41,089,182

G

EP300 interacting inhibitor of differentiation 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:34,412,053...34,413,645
Ensembl chr26:34,413,000...34,413,566

G

eukaryotic translation initiation factor 2 alpha kinase 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,966,095...43,072,083
Ensembl chr26:42,962,447...43,072,001

G

eukaryotic translation initiation factor 3 subunit J

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:38,481,842...38,505,762

G

elongation factor for RNA polymerase II 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:39,268,461...39,273,833
Ensembl chr26:39,269,538...39,273,321

G

ER membrane protein complex subunit 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:48,673,792...48,678,869
Ensembl chr26:48,674,134...48,678,862

G

ER membrane protein complex subunit 7

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:48,804,520...48,822,904
Ensembl chr26:48,804,573...48,825,820

G

erythrocyte membrane protein band 4.2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:39,770,288...39,794,252
Ensembl chr26:39,770,664...39,794,173

G

electron transfer flavoprotein subunit alpha

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:6,970,593...7,075,077
Ensembl chr26:6,970,584...7,076,049

G

exonuclease 3'-5' domain containing 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:41,785,448...41,819,540

G

fumarylacetoacetate hydrolase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:3,223,327...3,259,367
Ensembl chr26:3,223,079...3,258,657

G

family with sequence similarity 219 member B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:8,564,756...8,572,391
Ensembl chr26:8,565,096...8,569,808

G

family with sequence similarity 227 member B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:33,510,707...33,973,965

G

family with sequence similarity 81 member A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:23,980,938...24,070,036
Ensembl chr26:23,980,942...24,050,166

G

family with sequence similarity 98 member B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:44,484,020...44,523,548

G

FA complementation group I

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr29:7,788,983...7,864,505
Ensembl chr29:7,790,458...7,855,552

G

fibrillin 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:34,637,916...34,877,499
Ensembl chr26:34,638,838...34,879,217

G

F-box and leucine rich repeat protein 22

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:19,937,405...19,944,579

G

F-box protein 22

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:7,357,813...7,387,344
Ensembl chr26:7,356,064...7,387,274

G

fem-1 homolog B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:15,183,965...15,201,394

G

FES proto-oncogene, tyrosine kinase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:8,967,542...8,979,475
Ensembl chr29:8,965,997...8,979,361

G

fibroblast growth factor 7

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:33,802,349...33,867,743
Ensembl chr26:33,802,328...33,867,333

G

forkhead box B1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:23,502,048...23,505,390
Ensembl chr26:23,503,545...23,504,522

G

FERM domain containing 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:38,847,310...39,179,487
Ensembl chr26:39,119,525...39,170,954

G

fibronectin type III and SPRY domain containing 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:2,848,391...2,898,644
Ensembl chr29:2,867,030...2,897,780

G

fibrous sheath interacting protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:43,220,918...43,605,506
Ensembl chr26:43,227,795...43,407,241

G

furin, paired basic amino acid cleaving enzyme

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:8,980,367...8,992,257
Ensembl chr29:8,979,720...8,988,235

G

GA binding protein transcription factor subunit beta 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:32,967,912...33,039,114
Ensembl chr26:33,008,209...33,039,689

G

galactokinase 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:33,973,843...34,136,345
Ensembl chr26:33,969,657...34,122,115

G

glucosidase alpha, neutral C

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:40,670,906...40,721,381

G

glycine amidinotransferase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:37,836,207...37,853,811
Ensembl chr26:37,836,335...37,852,822

G

GTP cyclohydrolase I feedback regulator

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,238,875...42,243,230
Ensembl chr26:42,239,390...42,243,117

G

glucosaminyl (N-acetyl) transferase 3, mucin type

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:23,886,782...23,893,201
Ensembl chr26:23,887,297...23,888,613

G

GDP-D-glucose phosphorylase 1

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr29:8,785,034...8,789,083
Ensembl chr29:8,787,912...8,789,069

G

gap junction protein delta 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:48,149,568...48,152,466
Ensembl chr26:48,149,755...48,153,660

G

glucuronic acid epimerase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:14,181,625...14,295,414
Ensembl chr26:14,184,606...14,295,372

G

gliomedin

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:31,966,166...32,034,236
Ensembl chr26:31,966,961...32,034,016

G

G protein subunit beta 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:31,209,843...31,265,440
Ensembl chr26:31,209,896...31,266,873

G

golgi membrane protein 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:38,640,461...38,762,865
Ensembl chr26:38,639,819...38,762,847

G

G protein-coupled receptor 176

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:43,085,416...43,205,075

G

GRAM domain containing 2A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:11,255,629...11,299,132
Ensembl chr26:11,256,792...11,300,174

G

gremlin 1, DAN family BMP antagonist

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:50,152,097...50,169,760

G

general transcription factor IIA subunit 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:23,850,483...23,868,477

G

3-hydroxyacyl-CoA dehydratase 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:18,002,618...18,050,302
Ensembl chr26:18,004,586...18,050,258

G

hyaluronan and proteoglycan link protein 3

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr29:7,419,345...7,456,484
Ensembl chr29:7,419,329...7,439,666

G

HAUS augmin like complex subunit 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:40,409,749...40,427,544
Ensembl chr26:40,410,167...40,427,531

G

hyperpolarization activated cyclic nucleotide gated potassium channel 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:10,107,342...10,158,885
Ensembl chr26:10,110,579...10,156,292

G

histidine decarboxylase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:33,051,048...33,074,872
Ensembl chr26:33,051,966...33,074,563

G

HD domain containing 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:8,930,104...8,931,824
Ensembl chr29:8,929,474...8,932,063

G

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

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:19,713,780...19,930,807
Ensembl chr26:19,713,617...19,930,937

G

hexosaminidase subunit alpha

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:11,081,985...11,130,366
Ensembl chr26:11,082,468...11,116,075

G

high mobility group 20A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:5,821,356...5,891,592
Ensembl chr26:5,821,105...5,848,688

G

homer scaffold protein 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:2,667,718...2,810,238
Ensembl chr29:2,706,134...2,803,372

G

hydroxylysine kinase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:4,802,764...4,836,992
Ensembl chr26:4,808,554...4,836,290

G

huntingtin interacting protein K

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:39,242,584...39,244,681

G

interactor of little elongation complex ELL subunit 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:23,011,228...23,068,134
Ensembl chr26:23,011,498...23,063,733

G

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

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:5,183,470...5,205,385
Ensembl chr26:5,184,991...5,205,384

G

immunoglobulin superfamily DCC subclass member 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:18,203,230...18,254,349
Ensembl chr26:18,203,479...18,252,581

G

immunoglobulin superfamily DCC subclass member 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:18,158,815...18,203,021
Ensembl chr26:18,158,859...18,197,109

G

interleukin 16

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:2,080,985...2,208,764
Ensembl chr26:2,077,228...2,208,431

G

IMP U3 small nucleolar ribonucleoprotein 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:7,793,302...7,794,976
Ensembl chr26:7,793,899...7,794,453

G

INO80 complex ATPase subunit

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:41,878,648...42,017,526
Ensembl chr26:41,898,723...42,017,736

G

inhibitory synaptic factor 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:9,736,631...9,749,169
Ensembl chr26:9,737,950...9,749,062

G

integrator complex subunit 14

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:17,969,545...18,002,216
Ensembl chr26:17,969,771...18,005,020

G

IQ motif containing H

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:15,997,491...16,250,187
Ensembl chr26:15,998,540...16,250,203

G

IQ motif containing GTPase activating protein 1

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr29:9,363,273...9,485,644
Ensembl chr29:9,362,926...9,485,526

G

iron responsive element binding protein 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:4,842,328...4,905,941
Ensembl chr26:4,842,122...4,905,964

G

interferon stimulated exonuclease gene 20

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:7,178,118...7,195,460
Ensembl chr29:7,178,769...7,196,387

G

ISL LIM homeobox 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:6,940,218...6,946,007
Ensembl chr26:6,940,850...6,945,786

G

immunoglobulin superfamily containing leucine rich repeat

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:9,313,819...9,316,785
Ensembl chr26:9,314,572...9,315,858

G

immunoglobulin superfamily containing leucine rich repeat 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:9,352,549...9,362,050
Ensembl chr26:9,352,472...9,358,304

G

integrin subunit alpha 11

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:15,045,728...15,178,151
Ensembl chr26:15,046,058...15,176,837

G

inositol-trisphosphate 3-kinase A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:41,502,417...41,512,131

G

isovaleryl-CoA dehydrogenase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,592,387...42,605,931
Ensembl chr26:42,589,709...42,606,199

G

jumonji domain containing 7

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:41,148,280...41,158,744

G

katanin regulatory subunit B1 like 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:48,693,622...48,765,021
Ensembl chr26:48,693,671...48,763,349

G

kelch repeat and BTB domain containing 13

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:18,507,709...18,511,025
Ensembl chr26:18,509,555...18,510,931

G

kinesin family member 23

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:14,008,717...14,044,272
Ensembl chr26:14,008,633...14,043,710

G

kinesin family member 7

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr29:8,172,294...8,193,775
Ensembl chr29:8,170,883...8,191,323

G

kelch like family member 25

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:4,376,292...4,412,778
Ensembl chr29:4,385,011...4,386,780

G

kinetochore scaffold 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,342,741...42,409,466

G

kinetochore localized astrin (SPAG5) binding protein

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,620,401...42,631,932
Ensembl chr26:42,621,084...42,631,822

G

lactamase beta

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:20,399,882...20,419,422
Ensembl chr26:20,399,858...20,419,369

G

La ribonucleoprotein 6, translational regulator

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:12,605,050...12,626,661
Ensembl chr26:12,605,147...12,628,761

G

leucine carboxyl methyltransferase 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:39,670,087...39,672,753
Ensembl chr26:39,670,106...39,672,163

G

lactase like

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:16,980,318...17,001,238
Ensembl chr26:16,981,618...17,001,333

G

lactate dehydrogenase A like 6B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:24,304,857...24,307,906
Ensembl chr26:24,305,289...24,306,434

G

LEO1 homolog, Paf1/RNA polymerase II complex component

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:31,405,019...31,444,350
Ensembl chr26:31,404,537...31,445,198

G

long intergenic non-protein coding RNA 2694

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:44,271,099...44,275,832

G

leucine rich repeat and Ig domain containing 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:5,485,059...5,690,531
Ensembl chr26:5,688,293...5,690,155

G

lipase C, hepatic type

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:24,946,843...25,109,338
Ensembl chr26:24,946,673...25,087,921

G

lectin, mannose binding 1 like

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:8,645,361...8,659,139
Ensembl chr26:8,646,256...8,658,576

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr29:8,633,429...8,650,744
Ensembl chr29:8,633,715...8,650,657

G

transmembrane channel-like protein 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:2,018,238...2,059,627
Ensembl chr26:2,018,612...2,059,328

G

coiled-coil domain-containing protein 33

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:9,153,498...9,251,614

G

golgin subfamily A member 6C

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:9,399,054...9,420,493

G

golgin subfamily A member 6C

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:10,815,869...10,828,604

G

stereocilin

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:39,376,441...39,397,613
Ensembl chr26:39,378,318...39,401,072

G

chromosome 26 C15orf56 homolog

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,762,107...42,763,512

G

chromosome 26 C15orf54 homolog

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:43,742,500...43,759,370

G

creatine kinase U-type, mitochondrial

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:39,397,797...39,401,046

G

lysyl oxidase like 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:9,539,383...9,565,082
Ensembl chr26:9,538,758...9,564,751

G

lysophosphatidylcholine acyltransferase 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:48,420,011...48,546,667
Ensembl chr26:48,538,892...48,548,648

G

leucine rich repeat containing 49

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:12,405,249...12,568,597
Ensembl chr26:12,405,721...12,567,987

G

leucine rich repeat containing 57

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:40,427,588...40,434,108
Ensembl chr26:40,427,887...40,432,553

G

leukocyte receptor tyrosine kinase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:41,489,867...41,502,314
Ensembl chr26:41,490,902...41,501,956

G

LysM domain containing 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:31,624,953...31,652,483
Ensembl chr26:31,637,208...31,652,547

G

mannosidase alpha class 2A member 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:8,942,126...8,960,745
Ensembl chr29:8,939,836...8,961,162

G

mannosidase alpha class 2C member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:8,061,643...8,074,157
Ensembl chr26:8,061,681...8,074,043

G

microtubule associated protein 1A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:39,469,013...39,489,666
Ensembl chr26:39,468,222...39,489,613

G

mitogen-activated protein kinase kinase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:17,059,122...17,168,787
Ensembl chr26:17,060,054...17,168,782

G

mitogen-activated protein kinase kinase 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:15,694,760...15,956,814
Ensembl chr26:15,693,811...15,956,918

G

N6-Methyl-AMP deaminase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:39,648,164...39,669,734

G

mitogen-activated protein kinase 6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:31,320,025...31,365,599
Ensembl chr26:31,321,281...31,339,672

G

mitogen-activated protein kinase binding protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:41,159,788...41,213,045
Ensembl chr26:41,158,126...41,211,205

G

multiple EGF like domains 11

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:17,297,066...17,675,888

G

Meis homeobox 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:45,844,214...46,054,325

G

mesoderm development LRP chaperone

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:2,402,719...2,413,682
Ensembl chr26:2,402,709...2,416,923

G

mesoderm posterior bHLH transcription factor 1

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr29:8,286,551...8,288,777
Ensembl chr29:8,286,828...8,287,918

G

mesoderm posterior bHLH transcription factor 2

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr29:8,313,022...8,316,116

G

mex-3 RNA binding family member B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:1,366,900...1,371,243
Ensembl chr26:1,366,815...1,371,193

G

microfibril associated protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:39,220,477...39,239,964
Ensembl chr26:39,220,221...39,240,532

G

milk fat globule EGF and factor V/VIII domain containing

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

G

MAX dimerization protein MGA

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:41,215,424...41,381,828
Ensembl chr26:41,218,082...41,311,526

G

membrane integral NOTCH2 associated receptor 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:3,916,183...3,958,664
Ensembl chr26:3,920,064...3,932,619

G

MINDY lysine 48 deubiquitinase 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:24,662,351...24,747,383
Ensembl chr26:24,664,998...24,746,225

G

meiosis specific nuclear structural 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:27,026,932...27,060,044
Ensembl chr26:27,027,827...27,059,863

G

mortality factor 4 like 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:4,500,848...4,520,830

G

mannose phosphate isomerase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:8,574,135...8,582,575
Ensembl chr26:8,573,219...8,582,515

G

mitochondrial ribosomal protein L46

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:7,025,380...7,033,219
Ensembl chr29:7,025,442...7,033,219

G

mitochondrial ribosomal protein S11

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:7,033,403...7,043,994
Ensembl chr29:7,033,378...7,047,044

G

mitochondrial methionyl-tRNA formyltransferase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:18,556,747...18,583,528
Ensembl chr26:18,556,791...18,583,446

G

myelin expression factor 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:35,107,127...35,145,344
Ensembl chr26:35,107,227...35,142,543

G

myosin IE

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:24,138,462...24,378,602
Ensembl chr26:24,138,829...24,379,143

G

myosin VA

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:30,865,947...31,085,184

G

myosin VC

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:31,095,461...31,196,514
Ensembl chr26:31,107,036...31,196,049

G

myosin IXA

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:11,339,033...11,640,982
Ensembl chr26:11,339,246...11,639,956

G

myocardial zonula adherens protein

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:25,822,286...25,916,191
Ensembl chr26:25,821,849...25,916,205

G

NADH:ubiquinone oxidoreductase complex assembly factor 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:41,598,979...41,620,883
Ensembl chr26:41,598,977...41,622,438

G

NEDD4 E3 ubiquitin protein ligase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:27,487,652...27,655,742
Ensembl chr26:27,487,796...27,655,992

G

nei like DNA glycosylase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:8,074,706...8,082,437
Ensembl chr26:8,074,310...8,082,123

G

neogenin 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:10,173,707...10,427,732
Ensembl chr26:10,176,215...10,427,675

G

neugrin, neurite outgrowth associated

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr29:8,809,776...8,816,862
Ensembl chr29:8,809,912...8,816,441

G

neuromedin B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:3,703,390...3,706,463

G

NOP10 ribonucleoprotein

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:48,563,535...48,566,409
Ensembl chr26:48,563,517...48,566,745

G

NADPH oxidase 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:14,400,946...14,444,599
Ensembl chr26:14,401,374...14,443,890

G

neuroplastin

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:9,852,592...9,924,952
Ensembl chr26:9,852,658...9,926,109

G

nuclear receptor subfamily 2 group E member 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:11,648,675...11,655,408
Ensembl chr26:11,648,758...11,654,850

G

neuregulin 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:7,232,141...7,355,637
Ensembl chr26:7,276,818...7,347,514

G

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

OMIM:210900

NCBI chr 8:119,679,090...119,949,212
Ensembl chr 8:119,691,106...119,949,587

G

neurotrophic receptor tyrosine kinase 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:6,441,824...6,831,029
Ensembl chr29:6,447,256...6,830,526

G

nucleolar and spindle associated protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:41,624,507...41,667,568
Ensembl chr26:41,624,894...41,667,548

G

NUT midline carcinoma family member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:48,547,889...48,560,897
Ensembl chr26:48,548,133...48,560,731

G

ornithine decarboxylase antizyme 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:18,881,776...18,897,043
Ensembl chr26:18,881,831...18,895,915

G

Opa interacting protein 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:41,667,929...41,682,056

G

one cut homeobox 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:30,609,392...30,645,996

G

p21 (RAC1) activated kinase 6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,737,848...42,798,960
Ensembl chr26:42,737,613...42,750,248

G

progestin and adipoQ receptor family member 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:14,052,236...14,149,964
Ensembl chr26:14,049,194...14,106,746

G

poly(ADP-ribose) polymerase family member 16

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:18,292,118...18,323,760
Ensembl chr26:18,292,186...18,333,951

G

poly(ADP-ribose) polymerase family member 6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:11,182,436...11,214,490
Ensembl chr26:11,182,424...11,214,728

G

PAT1 homolog 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:38,372,296...38,384,649
Ensembl chr26:38,374,512...38,384,424

G

PCNA clamp associated factor

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:19,140,901...19,155,488
Ensembl chr26:19,140,843...19,155,730

G

programmed cell death 7

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:18,457,101...18,470,020
Ensembl chr26:18,457,166...18,469,525

G

phosphodiesterase 8A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:3,214,183...3,367,051
Ensembl chr29:3,213,165...3,367,571

G

protein disulfide isomerase family A member 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:39,273,982...39,300,170
Ensembl chr26:39,272,997...39,349,966

G

pseudopodium enriched atypical kinase 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:5,891,804...6,187,854
Ensembl chr26:6,125,081...6,184,726

G

peroxisomal biogenesis factor 11 alpha

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr29:8,220,082...8,229,448
Ensembl chr29:8,221,920...8,229,243

G

piggyBac transposable element derived 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:48,802,210...48,804,513
Ensembl chr26:48,802,223...48,803,980

G

proline, histidine and glycine rich 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,658,800...42,665,183

G

protein inhibitor of activated STAT 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:15,294,296...15,432,731
Ensembl chr26:15,297,934...15,432,659

G

piercer of microtubule wall 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:28,023,735...28,029,095
Ensembl chr26:28,023,603...28,028,929

G

PIF1 5'-to-3' DNA helicase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:18,755,276...18,765,396
Ensembl chr26:18,756,622...18,765,395

G

phosphatidylinositol glycan anchor biosynthesis class B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:28,076,605...28,113,859
Ensembl chr26:28,076,819...28,113,784

G

pyruvate kinase M1/2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:11,224,332...11,255,538

G

phospholipase A2 group IVB

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:41,137,643...41,147,384

G

phospholipase A2 group IVD

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:40,895,718...40,923,092
Ensembl chr26:40,897,660...40,922,031

G

phospholipase A2 group IVE

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:40,938,730...41,001,787
Ensembl chr26:40,939,712...41,001,217

G

phospholipase A2 group IVF

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:40,835,777...40,852,021
Ensembl chr26:40,836,266...40,852,054

G

phospholipase C beta 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,706,462...42,727,516
Ensembl chr26:42,707,625...42,727,145

G

pleckstrin homology domain containing O2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:18,711,745...18,737,769
Ensembl chr26:18,711,757...18,737,736

G

perilipin 1

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr29:8,204,071...8,219,974
Ensembl chr29:8,202,035...8,215,921

G

PML nuclear body scaffold

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:9,441,998...9,494,949
Ensembl chr26:9,451,112...9,494,931

G

DNA polymerase gamma, catalytic subunit

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068

G

RNA polymerase II subunit M

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:25,792,584...25,802,580
Ensembl chr26:25,791,219...25,802,383

G

phosphopantothenoylcysteine decarboxylase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:8,406,288...8,450,378
Ensembl chr26:8,420,032...8,450,304

G

peptidylprolyl isomerase B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:19,380,496...19,399,596

G

diphosphoinositol pentakisphosphate kinase 1

ClinVar Annotator: match by term: Bloom syndrome

G

protein phosphatase 1 regulatory inhibitor subunit 14D

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,163,604...42,186,624
Ensembl chr26:42,164,577...42,185,523

G

protein regulator of cytokinesis 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:8,866,919...8,895,832
Ensembl chr29:8,866,969...8,894,691

G

protogenin

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:27,735,883...27,854,530

G

proteasome 20S subunit alpha 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:4,793,046...4,802,098
Ensembl chr26:4,793,307...4,801,886

G

proline-serine-threonine phosphatase interacting protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:6,260,509...6,302,717
Ensembl chr26:6,260,349...6,302,673

G

protein tyrosine phosphatase non-receptor type 9

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:7,852,220...7,959,671
Ensembl chr26:7,852,940...7,958,039

G

pygopus family PHD finger 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:27,886,926...27,934,303
Ensembl chr26:27,888,233...27,927,171

G

RAB11A, member RAS oncogene family

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:17,682,629...17,702,325
Ensembl chr26:17,682,874...17,702,309

G

RAB27A, member RAS oncogene family

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:28,140,972...28,227,847
Ensembl chr26:28,197,464...28,227,963

G

RAB8B, member RAS oncogene family

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:20,275,555...20,354,298
Ensembl chr26:20,275,258...20,354,202

G

RAD51 recombinase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,281,085...42,319,394
Ensembl chr26:42,279,608...42,318,169

G

RNA guanine-7 methyltransferase activating subunit

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:2,652,843...2,667,718

G

Ras protein specific guanine nucleotide releasing factor 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:4,298,091...4,431,606
Ensembl chr26:4,299,116...4,432,420

G

RAS guanyl releasing protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:44,405,007...44,483,291

G

RAS like family 12

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:18,516,275...18,533,299
Ensembl chr26:18,518,001...18,535,726

G

RNA binding protein, mRNA processing factor 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:18,810,371...18,847,642

G

RCC1 domain containing 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:8,895,873...8,907,436
Ensembl chr29:8,899,949...8,907,248

G

reticulocalbin 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:6,348,032...6,366,302
Ensembl chr26:6,347,539...6,366,122

G

REC114 meiotic recombination protein

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:9,924,765...10,041,255
Ensembl chr26:9,925,054...10,040,533

G

regulatory factor X7

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:27,248,814...27,399,385

G

Rh family C glycoprotein

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr29:8,015,391...8,040,811
Ensembl chr29:8,015,620...8,040,486

G

ras homolog family member V

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,112,368...42,114,899
Ensembl chr26:42,112,953...42,114,039

G

retinaldehyde binding protein 1

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr29:7,756,742...7,769,061
Ensembl chr29:7,757,158...7,765,777

G

regulator of microtubule dynamics 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,243,832...42,282,811
Ensembl chr26:42,256,613...42,278,771

G

ring finger protein 111

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:24,416,946...24,528,989
Ensembl chr26:24,416,093...24,528,862

G

RAR related orphan receptor A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:22,263,889...23,002,224
Ensembl chr26:22,812,445...22,993,021

G

RNA polymerase II associated protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:41,457,696...41,488,315
Ensembl chr26:41,457,725...41,488,314

G

ribosomal protein L4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:17,046,189...17,051,427

G

ribosomal protein lateral stalk subunit P1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:14,002,074...14,004,481
Ensembl chr26:14,002,075...14,004,474

G

ribonuclease P and MRP subunit p25

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:8,516,782...8,520,101
Ensembl chr26:8,517,948...8,518,547

G

ribosomal protein S17

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:3,109,426...3,113,538

G

ribosomal protein S27 like

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:20,385,684...20,389,351

G

RNA pseudouridine synthase domain containing 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,430,914...42,436,137
Ensembl chr26:42,429,263...42,436,090

G

ribosomal L24 domain containing 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:28,230,029...28,246,108
Ensembl chr26:28,230,168...28,245,761

G

RTF1 homolog, Paf1/RNA polymerase II complex component

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:41,523,610...41,589,014
Ensembl chr26:41,522,542...41,588,948

G

stabilizer of axonemal microtubules 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:1,112,259...1,134,043

G

secretory carrier membrane protein 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:8,592,240...8,627,897
Ensembl chr26:8,592,266...8,628,081

G

secretory carrier membrane protein 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:8,452,276...8,517,949

G

S-phase cyclin A associated protein in the ER

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:6,400,083...6,934,573

G

secretogranin III

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:31,655,789...31,693,585
Ensembl chr26:31,654,094...31,693,535

G

secretogranin V

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:50,182,966...50,243,284
Ensembl chr26:50,189,473...50,243,282

G

SEC11 homolog A, signal peptidase complex subunit

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:3,645,234...3,690,510
Ensembl chr29:3,669,621...3,690,615

G

SECIS binding protein 2 like

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:34,205,361...34,303,783
Ensembl chr26:34,244,747...34,304,382

G

semaphorin 4B

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr29:8,733,647...8,776,618
Ensembl chr29:8,749,015...8,775,621

G

semaphorin 6D

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:35,511,593...36,095,816
Ensembl chr26:35,511,594...35,526,130

G

semaphorin 7A (JohnMiltonHagen blood group)

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:9,039,774...9,063,700

G

SUMO peptidase family member, NEDD8 specific

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:11,318,094...11,338,876
Ensembl chr26:11,318,800...11,319,438

G

small EDRK-rich factor 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:39,250,718...39,252,786

G

serine incorporator 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:39,244,701...39,249,986
Ensembl chr26:39,244,783...39,249,776

G

SH2 domain containing 7

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:5,247,866...5,260,659
Ensembl chr26:5,249,265...5,260,145

G

SH3 domain containing GRB2 like 3, endophilin A3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:2,009,833...2,177,843
Ensembl chr29:2,009,776...2,177,747

G

SHC adaptor protein 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:34,319,831...34,467,072
Ensembl chr26:34,329,322...34,467,211

G

Src homology 2 domain containing F

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:38,005,743...38,036,378

G

SIN3 transcription regulator family member A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:7,971,208...8,060,888
Ensembl chr26:7,975,484...8,058,278

G

SKI8 subunit of superkiller complex

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:5,037,386...5,062,578
Ensembl chr26:5,037,443...5,053,707

G

SKI family transcriptional corepressor 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:15,667,477...15,679,809
Ensembl chr26:15,667,479...15,676,427

G

solute carrier family 12 member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:34,974,947...35,077,241
Ensembl chr26:34,976,126...35,075,186

G

solute carrier family 12 member 6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:48,570,399...48,673,935
Ensembl chr26:48,589,770...48,674,486

G

solute carrier family 24 member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:17,924,872...17,969,413
Ensembl chr26:17,923,872...17,956,668

G

solute carrier family 24 member 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:35,143,004...35,164,134
Ensembl chr26:35,143,097...35,163,718

G

solute carrier family 27 member 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:33,080,844...33,134,467
Ensembl chr26:33,083,317...33,134,433

G

solute carrier family 28 member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:3,387,226...3,469,461
Ensembl chr29:3,403,685...3,468,626

G

solute carrier family 28 member 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:37,927,200...37,956,729

G

solute carrier family 30 member 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:37,692,164...37,732,102
Ensembl chr26:37,692,219...37,731,292

G

SLC51 subunit beta

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:18,533,254...18,541,881
Ensembl chr26:18,529,642...18,536,877

G

SAFB like transcription modulator

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:24,583,671...24,639,455
Ensembl chr26:24,583,699...24,642,460

G

SMAD family member 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:16,319,959...16,446,472
Ensembl chr26:16,320,933...16,446,527

G

SMAD family member 6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:16,760,117...16,841,286
Ensembl chr26:16,759,260...16,840,240

G

synaptosome associated protein 23

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:40,443,478...40,485,211
Ensembl chr26:40,442,615...40,482,346

G

small nuclear RNA activating complex polypeptide 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:17,052,898...17,056,839
Ensembl chr26:17,052,976...17,056,245

G

snurportin 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:7,806,698...7,835,477

G

sorting nexin 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:19,400,298...19,446,668
Ensembl chr26:19,406,517...19,446,700

G

sorting nexin 22

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:19,383,558...19,386,664
Ensembl chr26:19,383,812...19,386,568

G

sorting nexin 33

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:7,776,989...7,787,873
Ensembl chr26:7,778,390...7,786,591

G

sorbitol dehydrogenase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:38,129,236...38,173,867
Ensembl chr26:38,126,911...38,155,381

G

sperm equatorial segment protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:14,522,649...14,539,159
Ensembl chr26:14,522,648...14,539,190

G

SPG11 vesicle trafficking associated, spatacsin

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:38,386,000...38,482,236

G

SPG21 abhydrolase domain containing, maspardin

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:18,596,106...18,624,287
Ensembl chr26:18,596,204...18,624,534

G

serine peptidase inhibitor, Kunitz type 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,136,749...42,150,125
Ensembl chr26:42,134,536...42,150,118

G

signal peptide peptidase like 2A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:32,574,585...32,633,473
Ensembl chr26:32,574,612...32,634,034

G

sprouty related EVH1 domain containing 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:44,623,212...44,724,651
Ensembl chr26:44,628,802...44,723,791

G

spectrin beta, non-erythrocytic 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:41,090,023...41,137,645
Ensembl chr26:41,091,478...41,135,932

G

sulfide quinone oxidoreductase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:37,533,807...37,588,749
Ensembl chr26:37,533,749...37,567,124

G

signal recognition particle 14

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,962,495...42,965,645
Ensembl chr26:42,962,525...42,965,352

G

StAR related lipid transfer domain containing 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:2,067,420...2,079,132
Ensembl chr26:2,067,456...2,077,949

G

StAR related lipid transfer domain containing 9

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:40,251,337...40,402,700
Ensembl chr26:40,250,832...40,324,816

G

stomatin like 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:9,494,993...9,506,520
Ensembl chr26:9,497,339...9,508,548

G

signaling receptor and transporter of retinol STRA6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:9,275,317...9,311,302
Ensembl chr26:9,278,303...9,311,475

G

TBC1 domain family member 21

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:9,599,042...9,616,305
Ensembl chr26:9,599,157...9,613,986

G

TBC1 domain family member 2B

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:5,276,348...5,358,247
Ensembl chr26:5,276,533...5,360,373

G

transcription factor 12

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:26,219,881...26,585,452
Ensembl chr26:26,218,496...26,583,684

G

telomere repeat binding bouquet formation protein 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:38,226,041...38,247,500
Ensembl chr26:38,226,687...38,247,076

G

testis expressed 9

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:27,059,890...27,245,658
Ensembl chr26:27,057,196...27,137,971

G

transglutaminase 5

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:39,727,129...39,761,648
Ensembl chr26:39,734,288...39,761,441

G

transglutaminase 7

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:39,701,467...39,717,143
Ensembl chr26:39,701,479...39,716,964

G

THAP domain containing 10

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:12,568,451...12,578,691
Ensembl chr26:12,567,865...12,579,870

G

thrombospondin 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:43,410,693...43,427,816
Ensembl chr26:43,410,580...43,427,812

G

thrombospondin type 1 domain containing 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:11,677,332...12,207,092
Ensembl chr26:11,683,231...11,912,098

G

TOPBP1 interacting checkpoint and replication regulator

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr29:8,117,198...8,171,956

G

TIMELESS interacting protein

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:17,194,859...17,214,671
Ensembl chr26:17,198,734...17,214,810

G

TLE family member 3, transcriptional corepressor

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:13,355,915...13,406,446
Ensembl chr26:13,357,058...13,406,641

G

talin 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:20,688,048...21,140,585
Ensembl chr26:20,691,779...20,940,450

G

talin rod domain containing 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:2,388,914...2,391,944
Ensembl chr26:2,389,553...2,390,641

G

transmembrane 6 superfamily member 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:2,508,945...2,538,820
Ensembl chr29:2,506,017...2,538,932

G

transmembrane and coiled-coil domains 5A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:45,001,265...45,040,160
Ensembl chr26:45,023,323...45,038,035

G

transmembrane p24 trafficking protein 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:4,069,389...4,080,104
Ensembl chr26:4,069,150...4,080,083

G

transmembrane protein 202

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:11,054,782...11,082,138
Ensembl chr26:11,054,924...11,064,686

G

transmembrane protein 266

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:7,085,367...7,232,012
Ensembl chr26:7,086,016...7,154,647

G

transmembrane protein 62

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:39,808,067...39,851,865
Ensembl chr26:39,807,923...39,851,611

G

transmembrane protein 87A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:40,722,283...40,785,001
Ensembl chr26:40,722,464...40,785,863

G

tropomodulin 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:31,560,112...31,624,967
Ensembl chr26:31,568,024...31,624,905

G

TNF alpha induced protein 8 like 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:32,275,720...32,313,586

G

tumor protein p53 binding protein 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:39,489,925...39,595,096
Ensembl chr26:39,508,600...39,594,927

G

tropomyosin 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:20,458,287...20,487,387
Ensembl chr26:20,466,037...20,487,135

G

tripartite motif containing 69

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:38,284,883...38,313,874
Ensembl chr26:38,284,940...38,299,867

G

thyroid hormone receptor interactor 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:19,065,934...19,133,489
Ensembl chr26:19,065,887...19,133,448

G

transient receptor potential cation channel subfamily M member 7

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:32,644,637...32,772,753
Ensembl chr26:32,669,187...32,771,378

G

tetraspanin 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:6,225,502...6,250,738
Ensembl chr26:6,225,610...6,251,896

G

tau tubulin kinase 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:40,048,802...40,228,083
Ensembl chr26:40,048,943...40,231,228

G

tubulin gamma complex component 4

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:39,596,788...39,630,859
Ensembl chr26:39,593,342...39,630,536

G

TYRO3 protein tyrosine kinase

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:41,429,667...41,449,130
Ensembl chr26:41,429,556...41,449,175

G

uveal autoantigen with coiled-coil domains and ankyrin repeats

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:12,693,208...12,792,900
Ensembl chr26:12,749,774...12,795,279

G

ubiquitin associated protein 1 like

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:18,476,917...18,494,769
Ensembl chr26:18,483,734...18,494,676

G

ubiquitin conjugating enzyme E2 Q2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:7,390,115...7,448,304
Ensembl chr26:7,389,997...7,448,137

G

ubiquitin like 7

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:9,013,610...9,028,077

G

ubiquitin protein ligase E3 component n-recognin 1

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:39,851,630...40,026,817

G

unc-51 like kinase 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:8,628,289...8,635,465
Ensembl chr26:8,628,454...8,636,092

G

unc-13 homolog C

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:28,806,358...29,457,039

G

unc-45 myosin chaperone A

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:8,908,381...8,932,555
Ensembl chr29:8,908,141...8,923,031

G

uracil DNA glycosylase

CTD Direct Evidence: marker/mechanism

NCBI chr11:104,302,507...104,325,160

G

ubiquitin specific peptidase 3

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:19,947,806...20,030,515
Ensembl chr26:19,948,453...19,992,638

G

ubiquitin specific peptidase 50

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:32,785,817...32,830,148

G

ubiquitin specific peptidase 8

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:32,829,627...32,906,493
Ensembl chr26:32,829,523...32,866,073

G

vacuolar protein sorting 13 homolog C

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:21,463,393...21,647,944
Ensembl chr26:21,463,657...21,648,603

G

VPS18 core subunit of CORVET and HOPS complexes

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,091,348...42,100,264
Ensembl chr26:42,088,938...42,100,243

G

VPS39 subunit of HOPS complex

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:40,787,204...40,834,065
Ensembl chr26:40,801,245...40,834,113

G

WD repeat domain 72

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:29,670,775...29,909,838
Ensembl chr26:29,699,645...29,904,754

G

WD repeat domain 73

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:3,707,254...3,718,600
Ensembl chr29:3,707,299...3,719,614

G

WD repeat domain 76

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:39,178,407...39,222,005
Ensembl chr26:39,176,535...39,223,993

G

WD repeat domain 93

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr29:8,205,213...8,280,335
Ensembl chr29:8,239,038...8,280,431

G

WASP homolog associated with actin, golgi membranes and microtubules

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:2,819,140...2,843,292
Ensembl chr29:2,819,367...2,843,144

G

zinc finger AN1-type containing 6

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:3,274,721...3,356,873
Ensembl chr26:3,274,194...3,314,527

G

zinc finger FYVE-type containing 19

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:42,186,708...42,194,750
Ensembl chr26:42,184,668...42,193,473

G

zinc finger protein 106

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:40,486,801...40,567,811
Ensembl chr26:40,486,913...40,563,332

G

zinc finger protein 280D

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:26,774,805...26,872,299
Ensembl chr26:26,775,328...26,872,532

G

zinc finger protein 592

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:3,554,095...3,611,845
Ensembl chr29:3,553,618...3,611,834

G

zinc finger protein 609

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:19,015,388...19,021,849

G

zinc finger protein 710

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr29:8,551,823...8,632,636
Ensembl chr29:8,617,280...8,634,031

G

zinc finger protein 770

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:47,910,742...47,918,178

G

zinc finger protein 774

ClinVar Annotator: match by term: Bloom syndrome

PMID:17407155 PMID:28492532

NCBI chr29:9,512,568...9,578,702

G

zinc finger and SCAN domain containing 2

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr29:3,746,183...3,770,586
Ensembl chr29:3,744,923...3,769,890

G

zinc finger and SCAN domain containing 29

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:39,631,076...39,643,281
Ensembl chr26:39,630,611...39,643,756

G

zwilch kinetochore protein

ClinVar Annotator: match by term: Bloom syndrome

NCBI chr26:17,000,373...17,045,980
Ensembl chr26:17,000,148...17,045,804

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 chr 3:88,410,800...88,564,191
Ensembl chr 3:88,412,168...88,564,057

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 chr 3:88,564,328...88,760,191
Ensembl chr 3:88,563,903...88,760,411

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 chr26:42,440,362...42,453,531
Ensembl chr26:42,440,392...42,452,713

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:111,318,533...111,425,759
Ensembl chr X:111,318,763...111,425,617

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:111,672,701...111,793,597
Ensembl chr X:111,672,713...111,792,856

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:111,488,422...111,496,637
Ensembl chr X:111,489,165...111,493,375

G

CD40 ligand

ClinVar Annotator: match by term: Christianson syndrome

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

NCBI chr X:111,655,301...111,667,602
Ensembl chr X:111,655,397...111,666,639

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:16,955,540...17,101,513

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:111,160,389...111,226,713
Ensembl chr X:111,211,911...111,226,841

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:112,057,904...112,063,298
Ensembl chr X:112,058,791...112,060,323

G

HIVEP zinc finger 2

ClinVar Annotator: match by term: Angelman syndrome-like

NCBI chr13:30,476,938...30,501,708
Ensembl chr13:30,477,205...30,500,066

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:111,498,102...111,513,959
Ensembl chr X:111,498,634...111,514,749

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:111,232,087...111,266,950
Ensembl chr X:111,232,072...111,266,863

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:111,880,859...111,892,660

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:17,089,382...17,105,145
Ensembl chr X:17,089,598...17,118,447

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

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

NCBI chr X:110,997,985...111,060,164
Ensembl chr X:110,998,281...111,060,252

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:111,531,915...111,558,753

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:112,597,329...112,609,411
Ensembl chr X:112,598,466...112,601,803

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 chr29:18,484,341...18,842,210
Ensembl chr29:18,481,449...18,841,568

G

aldehyde dehydrogenase 1 family member A3

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

NCBI chr29:19,347,101...19,383,600

G

ankyrin repeat and SOCS box containing 7

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

NCBI chr29:19,065,756...19,115,156
Ensembl chr29:19,075,293...19,115,216

G

ceramide synthase 3

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

NCBI chr29:18,883,532...19,016,790
Ensembl chr29:18,929,866...18,974,662

G

chondroitin sulfate synthase 1

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

NCBI chr29:19,633,335...19,707,547
Ensembl chr29:19,632,026...19,707,425

G

insulin like growth factor 1 receptor

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

NCBI chr29:17,212,206...17,534,036
Ensembl chr29:17,459,404...17,526,930

G

lines homolog 1

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

NCBI chr29:19,036,427...19,065,361
Ensembl chr29:19,036,305...19,044,244

G

leucine rich repeat containing 28

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

NCBI chr29:17,841,731...17,971,267
Ensembl chr29:17,841,855...17,971,532

G

leucine rich repeat kinase 1

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

NCBI chr29:19,385,149...19,532,440
Ensembl chr29:19,386,170...19,533,686

G

LysM domain containing 4

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

NCBI chr29:18,325,403...18,329,678
Ensembl chr29:18,323,749...18,329,648

G

myocyte enhancer factor 2A

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

NCBI chr29:18,150,315...18,312,975
Ensembl chr29:18,150,854...18,309,247

G

pyroglutamyl-peptidase I like

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

NCBI chr29:17,537,895...17,587,521

G

synemin

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

NCBI chr29:17,693,148...17,723,847
Ensembl chr29:17,693,121...17,724,387

G

tetratricopeptide repeat domain 23

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

NCBI chr29:17,724,470...17,841,585
Ensembl chr29:17,724,456...17,840,157

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

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 chr16:25,677,632...25,700,769
Ensembl chr16:25,678,197...25,700,061

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

G

BCL9 transcription coactivator

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

G

chromodomain helicase DNA binding protein 1 like

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

G

flavin containing dimethylaniline monoxygenase 5

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

G

gap junction protein alpha 5

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

PMID:25741868 PMID:28492532

G

gap junction protein alpha 8

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

G

protein kinase AMP-activated non-catalytic subunit beta 2

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

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:127,342,788...127,389,117
Ensembl chr X:127,342,850...127,390,536

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

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

NCBI chr26:45,844,214...46,054,325

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 8:95,369,941...95,412,737
Ensembl chr 8:95,369,901...95,412,688

G

ATPase H+ transporting V1 subunit C1

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:97,878,970...97,930,552
Ensembl chr 8:97,879,019...97,926,263

G

antizyme inhibitor 1

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:97,679,775...97,717,486
Ensembl chr 8:97,679,468...97,696,928

G

BAALC binder of MAP3K1 and KLF4

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:98,001,547...98,082,381
Ensembl chr 8:98,001,432...98,082,132

G

collagen triple helix repeat containing 1

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:98,227,661...98,239,984
Ensembl chr 8:98,227,705...98,240,753

G

DDB1 and CUL4 associated factor 13

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:98,271,304...98,297,950

G

dendrocyte expressed seven transmembrane protein

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:99,174,778...99,193,539
Ensembl chr 8:99,185,423...99,193,058

G

dihydropyrimidinase

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:99,216,623...99,303,969
Ensembl chr 8:99,216,354...99,303,282

G

F-box protein 43

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:94,983,189...94,996,480
Ensembl chr 8:94,983,640...94,994,672

G

frizzled class receptor 6

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:98,154,173...98,187,864
Ensembl chr 8:98,154,196...98,188,069

G

grainyhead like transcription factor 2

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:96,340,459...96,526,366
Ensembl chr 8:96,342,189...96,526,363

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 8:93,343,847...93,349,828
Ensembl chr 8:93,344,822...93,346,255

G

KLF transcription factor 10

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:97,496,695...97,503,818
Ensembl chr 8:97,496,678...97,503,620

G

cytochrome c oxidase subunit 6C

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:94,737,674...94,753,239

G

LDL receptor related protein 12

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:99,325,852...99,423,413
Ensembl chr 8:99,324,111...99,422,767

G

myosin VIIA

ClinVar Annotator: match by term: Cohen syndrome

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

NCBI chr 1:68,334,781...68,423,215
Ensembl chr 1:68,350,598...68,425,625

G

neurocalcin delta

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:96,530,414...96,735,422
Ensembl chr 8:96,530,302...96,644,281

G

NIPA like domain containing 2

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:93,108,371...93,211,595
Ensembl chr 8:93,109,205...93,210,445

G

outer dense fiber of sperm tails 1

ClinVar Annotator: match by term: Cohen syndrome

G

odd-skipped related transciption factor 2

ClinVar Annotator: match by term: Cohen syndrome

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

NCBI chr 8:93,831,218...93,839,098
Ensembl chr 8:93,831,480...93,839,263

G

poly(A) binding protein cytoplasmic 1

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:95,560,551...95,578,627
Ensembl chr 8:95,561,930...95,578,633

G

RNA polymerase II, I and III subunit K

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:95,001,525...95,004,749
Ensembl chr 8:95,001,587...95,004,346

G

POP1 homolog, ribonuclease P/MRP subunit

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:93,031,600...93,074,700
Ensembl chr 8:93,043,277...93,074,818

G

regulator of G protein signaling 22

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:94,806,493...94,950,188
Ensembl chr 8:94,805,855...94,937,451

G

regulating synaptic membrane exocytosis 2

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:98,354,271...99,097,457
Ensembl chr 8:98,354,131...99,097,577

G

ring finger protein 19A, RBR E3 ubiquitin protein ligase

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:95,107,679...95,161,592
Ensembl chr 8:95,105,016...95,139,012

G

ribonucleotide reductase regulatory TP53 inducible subunit M2B

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:97,055,111...97,091,980

G

solute carrier family 25 member 32

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:98,256,793...98,271,347
Ensembl chr 8:98,254,852...98,271,514

G

sorting nexin 31

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:95,427,818...95,515,132
Ensembl chr 8:95,428,800...95,502,606

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 8:95,008,812...95,093,315
Ensembl chr 8:95,013,250...95,092,451

G

serine/threonine kinase 3

ClinVar Annotator: match by term: Cohen syndrome

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

NCBI chr 8:93,374,528...93,698,143
Ensembl chr 8:93,374,517...93,697,758

G

ubiquitin protein ligase E3 component n-recognin 5

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:97,104,325...97,257,317
Ensembl chr 8:97,103,220...97,257,440

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

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

NCBI chr 8:93,899,666...94,737,123
Ensembl chr 8:93,901,284...94,735,262

G

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

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:95,786,197...95,821,270
Ensembl chr 8:95,788,305...95,819,197

G

zinc finger protein, FOG family member 2

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:100,138,867...100,620,355

G

zinc finger protein 706

ClinVar Annotator: match by term: Cohen syndrome

NCBI chr 8:96,062,498...96,072,104
Ensembl chr 8:96,064,379...96,067,511

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 chr22:30,747,747...30,971,951
Ensembl chr22:30,748,440...30,972,168

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 chr22:12,725,718...12,730,377
Ensembl chr22:12,726,308...12,730,587

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 chr23:44,575,514...44,594,116
Ensembl chr23:44,577,005...44,590,074

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 chr23:44,602,152...44,623,711
Ensembl chr23:44,602,783...44,623,912

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 chr16:6,593,288...6,598,980
Ensembl chr16:6,593,287...6,598,979

G

asialoglycoprotein receptor 1

ClinVar Annotator: match by term: Faundes-Banka syndrome

NCBI chr16:6,546,173...6,553,213
Ensembl chr16:6,546,404...6,551,456

G

asialoglycoprotein receptor 2

ClinVar Annotator: match by term: Faundes-Banka syndrome

G

claudin 7

ClinVar Annotator: match by term: Faundes-Banka syndrome

NCBI chr16:6,632,695...6,635,994
Ensembl chr16:6,630,412...6,635,327

G

CTD nuclear envelope phosphatase 1

ClinVar Annotator: match by term: Faundes-Banka syndrome

NCBI chr16:6,617,609...6,625,261
Ensembl chr16:6,617,966...6,625,342

G

discs large MAGUK scaffold protein 4

ClinVar Annotator: match by term: Faundes-Banka syndrome

NCBI chr16:6,562,953...6,592,247
Ensembl chr16:6,562,691...6,590,867

G

dishevelled segment polarity protein 2

ClinVar Annotator: match by term: Faundes-Banka syndrome

NCBI chr16:6,599,056...6,608,613
Ensembl chr16:6,599,579...6,608,544

G

eukaryotic translation initiation factor 5A

ClinVar Annotator: match by term: Faundes-Banka syndrome

PMID:25741868 PMID:31690835 PMID:33547280

NCBI chr16:6,685,908...6,691,159

G

elongator acetyltransferase complex subunit 5

ClinVar Annotator: match by term: Faundes-Banka syndrome

NCBI chr16:6,625,418...6,632,732
Ensembl chr16:6,625,723...6,635,327

G

GABA type A receptor-associated protein

ClinVar Annotator: match by term: Faundes-Banka syndrome

NCBI chr16:6,614,478...6,616,516
Ensembl chr16:6,614,688...6,616,443

G

G protein pathway suppressor 2

ClinVar Annotator: match by term: Faundes-Banka syndrome

NCBI chr16:6,690,831...6,694,245
Ensembl chr16:6,686,667...6,693,804

G

neuralized E3 ubiquitin protein ligase 4

ClinVar Annotator: match by term: Faundes-Banka syndrome

NCBI chr16:6,694,318...6,708,055
Ensembl chr16:6,694,187...6,707,979

G

PHD finger protein 23

ClinVar Annotator: match by term: Faundes-Banka syndrome

NCBI chr16:6,609,106...6,613,693
Ensembl chr16:6,609,087...6,613,690

G

solute carrier family 2 member 4

ClinVar Annotator: match by term: Faundes-Banka syndrome

NCBI chr16:6,654,626...6,660,640
Ensembl chr16:6,654,608...6,661,495

G

Y-box binding protein 2

ClinVar Annotator: match by term: Faundes-Banka syndrome

NCBI chr16:6,660,861...6,667,495

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

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:20301770 More...

NCBI chr14:91,685,376...91,692,091

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 chr14:91,685,376...91,692,091

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 chr20:3,801,044...3,828,680
Ensembl chr20:3,802,887...3,828,692

Filippi syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytoskeleton associated protein 2 like

ClinVar Annotator: match by term: Filippi syndrome

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

NCBI chr14:15,753,596...15,780,051
Ensembl chr14:15,751,721...15,779,994

G

5'-nucleotidase domain containing 4

ClinVar Annotator: match by term: Filippi syndrome

PMID:25741868 PMID:28492532

NCBI chr14:15,736,838...15,747,980

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:

NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225

G

matrix metallopeptidase 9

protein:increased expression:cerebral cortex

NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712

G

mechanistic target of rapamycin kinase

ClinVar Annotator: match by term: Focal cortical dysplasia type 2

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

NCBI chr20:120,522,667...120,678,988
Ensembl chr20:120,525,737...120,679,020

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

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

NCBI chr12:5,195,604...5,249,042
Ensembl chr12:5,195,675...5,244,157

G

TSC complex subunit 2

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

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

NCBI chr 5:1,946,534...1,985,168
Ensembl chr 5:1,946,927...1,987,682

Focal Cortical Dysplasia of Taylor, Type IIB

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TSC complex subunit 1

ClinVar Annotator: match by term: Cortical dysplasia of Taylor with balloon cells

PMID:9328481 PMID:9863590 PMID:9924605 PMID:10227394 PMID:10533067 More...

NCBI chr12:5,195,604...5,249,042
Ensembl chr12:5,195,675...5,244,157

Galloway-Mowat syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GON7 subunit of KEOPS complex

ClinVar Annotator: match by term: Galloway-Mowat syndrome

PMID:25741868 PMID:31481669

NCBI chr24:70,941,245...70,945,561
Ensembl chr24:70,940,910...70,945,485

G

L antigen family member 3

CTD Direct Evidence: marker/mechanism

NCBI chr X:128,725,788...128,727,565

G

O-sialoglycoprotein endopeptidase

ClinVar Annotator: match by term: Galloway-Mowat syndrome

PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828

NCBI chr29:20,960,710...20,969,321
Ensembl chr29:20,960,378...20,968,903

G

TP53 regulating kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:17,196,599...17,199,829
Ensembl chr 2:17,196,172...17,203,130

G

TP53RK binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr14:33,518,089...33,526,122
Ensembl chr14:33,521,398...33,527,613

G

WD repeat domain 4

ClinVar Annotator: match by term: Galloway-Mowat syndrome

PMID:25741868 PMID:30079490

NCBI chr 2:86,715,939...86,745,972
Ensembl chr 2:86,716,922...86,745,547

G

WD repeat domain 73

ClinVar Annotator: match by term: Galloway-Mowat syndrome

NCBI chr29:3,707,254...3,718,600
Ensembl chr29:3,707,299...3,719,614

G

zinc finger protein 592

CTD Direct Evidence: marker/mechanism

NCBI chr29:3,554,095...3,611,845
Ensembl chr29:3,553,618...3,611,834

Galloway-Mowat syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

endoglin

ClinVar Annotator: match by term: Galloway-Mowat syndrome 1

PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More...

NCBI chr12:10,274,705...10,315,715
Ensembl chr12:10,275,064...10,315,040

G

WD repeat domain 73

ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition

PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More...

NCBI chr29:3,707,254...3,718,600
Ensembl chr29:3,707,299...3,719,614

G

zinc finger protein 592

ClinVar Annotator: match by term: Galloway-Mowat syndrome 1

PMID:12030328 PMID:20531441 PMID:25741868