Monosomy - 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:	Monosomy	go back to main search page
Accession:	DOID:9004684	browse the term
Definition:	The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
Synonyms:	exact_synonym:	Monosomies
	primary_id:	MESH:D009006

show annotations for term's descendants Sort by:
Rat (1666) Mouse (1680) Human (14280) Chinchilla (1570) Bonobo (1685) Dog (1660) Squirrel (1574) Pig (1628) Green Monkey (1655) Naked Mole-rat (1533) All
Genes (1628)

16Q24.3 Microdeletion Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA synthetase family member 3

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:663,201...708,800
Ensembl chr 6:663,123...709,186

G

ankyrin repeat domain containing 11

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:455,856...612,878
Ensembl chr 6:455,851...612,868

G

adenine phosphoribosyltransferase

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:890,272...893,278
Ensembl chr 6:890,831...893,276

G

BTG3 associated nuclear protein

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:1,421,460...1,495,484
Ensembl chr 6:1,421,462...1,495,486

G

chromosome 6 C16orf95 homolog

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:1,996,457...2,013,709

G

carbonic anhydrase 5A

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:1,495,615...1,539,390
Ensembl chr 6:1,506,042...1,538,777

G

CBFA2/RUNX1 partner transcriptional co-repressor 3

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:779,164...854,449
Ensembl chr 6:779,366...853,822

G

cadherin 15

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:636,350...652,260
Ensembl chr 6:636,377...652,165

G

chromatin licensing and DNA replication factor 1

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:893,377...897,706
Ensembl chr 6:893,381...897,934

G

copine 7

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:393,756...410,781

G

cytosolic thiouridylase subunit 2

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:964,551...976,881
Ensembl chr 6:964,566...976,832

G

cytochrome b-245 alpha chain

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,162...1,021,420

G

F-box protein 31

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:1,949,254...1,995,459
Ensembl chr 6:1,949,276...1,995,462

G

galactosamine (N-acetyl)-6-sulfatase

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:869,284...890,137
Ensembl chr 6:869,244...890,134

G

interleukin 17C

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:1,023,330...1,025,173
Ensembl chr 6:1,022,937...1,025,161

G

junctophilin 3

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:1,677,132...1,767,010

G

kelch domain containing 4

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:1,627,054...1,672,328
Ensembl chr 6:1,617,653...1,677,127

G

microtubule associated protein 1 light chain 3 beta

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:1,919,879...1,941,069
Ensembl chr 6:1,915,387...1,941,069

G

mevalonate diphosphate decarboxylase

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:1,008,100...1,014,303
Ensembl chr 6:1,008,100...1,014,303

G

PABPN1 like, cytoplasmic

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:854,605...861,969
Ensembl chr 6:858,888...861,604

G

piezo type mechanosensitive ion channel component 1

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:914,480...967,113
Ensembl chr 6:914,709...967,111

G

ring finger protein 166

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:976,957...982,997
Ensembl chr 6:976,980...982,995

G

ribosomal protein L13

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:410,923...413,396

G

solute carrier family 7 member 5

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285

G

snail family transcriptional repressor 3

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:988,975...996,268
Ensembl chr 6:988,990...996,247

G

SPG7 matrix AAA peptidase subunit, paraplegin

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:414,930...439,206
Ensembl chr 6:414,932...439,212

G

trafficking protein particle complex subunit 2L

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:865,498...869,253
Ensembl chr 6:863,805...869,226

G

zinc finger CCCH-type containing 18

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:1,030,416...1,081,541
Ensembl chr 6:1,030,418...1,081,538

G

zinc finger CCHC-type containing 14

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:1,849,974...1,917,601
Ensembl chr 6:1,850,051...1,918,704

G

zinc finger protein, FOG family member 1

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:1,091,158...1,153,972
Ensembl chr 6:1,091,259...1,107,096

G

zinc finger protein 469

ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome

NCBI chr 6:1,161,514...1,208,406
Ensembl chr 6:1,162,822...1,174,257

1q24 Deletion Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ABL proto-oncogene 2, non-receptor tyrosine kinase

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:120,888,891...120,984,724
Ensembl chr 9:120,892,952...120,984,695

G

acyl-CoA binding domain containing 6

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:121,913,050...122,116,031
Ensembl chr 9:121,913,053...122,115,783

G

angiopoietin like 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:120,656,313...120,684,313
Ensembl chr 9:120,654,092...120,680,390

G

astrotactin 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:118,649,144...118,969,032
Ensembl chr 9:118,646,910...118,968,970

G

ATPase Na+/K+ transporting subunit beta 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 4:81,912,543...81,937,015
Ensembl chr 4:81,911,561...81,991,840

G

axonemal dynein light chain domain containing 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:121,120,031...121,209,686
Ensembl chr 9:121,120,235...121,223,059

G

basic leucine zipper nuclear factor 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 4:81,597,312...81,639,788
Ensembl chr 4:81,571,300...81,639,577

G

BMP/retinoic acid inducible neural specific 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:118,967,670...119,095,345
Ensembl chr 9:118,975,719...119,095,336

G

chromosome 9 C1orf105 homolog

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 9:114,828,414...114,850,267
Ensembl chr 9:114,814,030...114,851,040

G

calcium voltage-gated channel subunit alpha1 E

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:122,827,386...123,318,372
Ensembl chr 9:123,006,195...123,315,319

G

calcyclin binding protein

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682

NCBI chr 9:117,062,303...117,077,442
Ensembl chr 9:117,064,187...117,123,126

G

coiled-coil domain containing 181

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 4:81,561,007...81,593,922
Ensembl chr 4:81,561,103...81,593,922

G

centromere protein L

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682

NCBI chr 9:116,090,868...116,109,822
Ensembl chr 9:116,090,870...116,109,483

G

centrosomal protein 350

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:121,590,674...121,744,860
Ensembl chr 9:121,590,420...121,741,158

G

COP1 E3 ubiquitin ligase

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:117,913,504...118,114,268
Ensembl chr 9:117,915,443...118,114,259

G

aspartyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682

NCBI chr 9:116,109,970...116,140,635
Ensembl chr 9:116,109,982...116,140,627

G

DExH-box helicase 9

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:124,141,929...124,183,838
Ensembl chr 9:124,141,967...124,185,349

G

dynamin 3

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 9:114,262,782...114,805,252
Ensembl chr 9:114,262,791...114,797,674

G

coagulation factor V

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,274...81,485,066

G

family with sequence similarity 163 member A

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:121,378,101...121,460,641
Ensembl chr 9:121,380,415...121,461,054

G

FAM20B glycosaminoglycan xylosylkinase

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:120,809,706...120,854,967
Ensembl chr 9:120,809,964...120,854,961

G

Fas ligand

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464

G

FIGNL1 interacting regulator of recombination and mitosis

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 4:81,174,911...81,216,094
Ensembl chr 4:81,175,541...81,216,096

G

flavin containing dimethylaniline monoxygenase 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 9:63,860,957...63,895,086
Ensembl chr 9:63,868,064...63,895,076

G

flavin containing dimethylaniline monoxygenase 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 9:63,812,016...63,857,608
Ensembl chr 9:63,812,492...63,852,085

G

flavin containing dimethylaniline monoxygenase 3

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 9:63,757,928...63,777,075
Ensembl chr 9:63,757,964...63,777,279

G

flavin containing dimethylaniline monoxygenase 4

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 9:63,908,846...63,934,985
Ensembl chr 9:63,908,868...63,934,982

G

glutamate-ammonia ligase

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:123,751,551...123,762,575
Ensembl chr 9:123,748,380...123,762,545

G

golgin, RAB6 interacting

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 4:80,568,535...80,590,709
Ensembl chr 4:80,568,859...80,590,679

G

G protein-coupled receptor 52

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682

NCBI chr 9:116,639,223...116,648,001
Ensembl chr 9:116,643,037...116,647,996

G

immediate early response 5

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:122,633,781...122,635,950
Ensembl chr 9:122,633,781...122,635,948

G

KIAA0040

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682

NCBI chr 9:117,253,805...117,288,348
Ensembl chr 9:117,253,831...117,287,741

G

KIAA1614

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:122,484,049...122,523,072
Ensembl chr 9:122,484,004...122,523,063

G

kinesin associated protein 3

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 4:80,922,032...81,105,135
Ensembl chr 4:80,921,682...81,108,360

G

kelch like family member 20

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682

NCBI chr 9:116,005,562...116,083,478
Ensembl chr 9:116,005,574...116,083,452

G

laminin subunit gamma 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:124,283,668...124,405,967
Ensembl chr 9:124,283,224...124,405,964

G

laminin subunit gamma 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:124,427,545...124,499,672
Ensembl chr 9:124,435,807...124,495,351

G

LIM homeobox 4

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:121,850,997...121,898,622
Ensembl chr 9:121,851,270...121,897,211

G

ankyrin repeat domain-containing protein 45

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682

NCBI chr 9:115,868,345...115,987,710
Ensembl chr 9:115,948,210...115,987,643

G

methyltransferase 13, eEF1A N-terminus and K55

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 9:114,202,494...114,218,371
Ensembl chr 9:114,202,484...114,218,368

G

methyltransferase 18, RPL3 N3(tau)-histidine

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 4:81,216,107...81,218,595
Ensembl chr 4:81,216,430...81,220,449

G

microRNA mir-199a-1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 9:114,533,783...114,533,858
Ensembl chr 9:114,533,777...114,533,880

G

microRNA mir-214

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 9:114,527,992...114,528,101
Ensembl chr 9:114,527,990...114,528,101

G

major histocompatibility complex, class I-related

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:122,592,510...122,611,462
Ensembl chr 9:122,592,532...122,609,022

G

maestro heat like repeat family member 9

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 9:63,620,228...63,727,120
Ensembl chr 9:63,620,228...63,727,022

G

mitochondrial ribosomal protein S14

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682

NCBI chr 9:117,097,841...117,137,188
Ensembl chr 9:117,097,849...117,137,110

G

myocilin

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 9:114,087,370...114,098,765
Ensembl chr 9:114,087,378...114,098,745

G

neutrophil cytosolic factor 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:124,776,516...124,813,358
Ensembl chr 9:124,776,534...124,812,923

G

NME/NM23 family member 7

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 4:81,639,907...81,912,276
Ensembl chr 4:81,639,909...81,911,743

G

nicotinamide nucleotide adenylyltransferase 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:124,495,464...124,697,911
Ensembl chr 9:124,498,109...124,696,194

G

NPHS2 stomatin family member, podocin

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:121,217,734...121,236,214
Ensembl chr 9:121,218,369...121,236,430

G

N-acetylneuraminate pyruvate lyase

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:124,093,579...124,132,862
Ensembl chr 9:124,093,604...124,132,860

G

N-terminal Xaa-Pro-Lys N-methyltransferase 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 4:80,854,850...80,932,412
Ensembl chr 4:80,857,344...80,877,566

G

pappalysin 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:118,362,663...118,635,972
Ensembl chr 9:118,365,303...118,635,964

G

phosphatidylinositol glycan anchor biosynthesis class C

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 9:114,824,795...114,827,731
Ensembl chr 9:114,824,802...114,827,413

G

peroxiredoxin 6

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682

NCBI chr 9:115,857,629...115,868,898
Ensembl chr 9:115,857,644...115,868,892

G

proline rich coiled-coil 2C

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 9:113,973,285...114,067,555
Ensembl chr 9:113,973,325...114,067,553

G

paired related homeobox 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 4:80,427,682...80,502,689
Ensembl chr 4:80,427,687...80,501,646

G

quiescin sulfhydryl oxidase 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:121,779,072...121,822,829
Ensembl chr 9:121,779,792...121,822,825

G

RAB GTPase activating protein 1 like

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682

NCBI chr 9:116,402,395...117,060,057
Ensembl chr 9:116,463,779...117,060,053

G

Ral GEF with PH domain and SH3 binding motif 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:120,562,294...120,725,275
Ensembl chr 9:120,420,942...120,724,218

G

RAS protein activator like 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:119,941,303...120,329,817
Ensembl chr 9:119,941,862...120,325,316

G

ring finger and CCCH-type domains 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682

NCBI chr 9:116,204,807...116,292,455
Ensembl chr 9:116,208,799...116,292,381

G

regulator of G protein signaling 16

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:123,913,179...123,919,119
Ensembl chr 9:123,913,173...123,918,871

G

regulator of G protein signaling 8

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:123,937,721...124,053,927
Ensembl chr 9:123,955,241...124,047,648

G

regulator of G protein signaling like 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:123,763,417...123,879,100
Ensembl chr 9:123,814,171...123,879,496

G

ribonuclease L

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:123,895,045...123,910,386
Ensembl chr 9:123,893,294...123,910,398

G

SCY1 like pseudokinase 3

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 4:81,134,035...81,175,537
Ensembl chr 4:81,134,352...81,175,536

G

SEC16 homolog B, endoplasmic reticulum export factor

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:119,778,660...119,842,962
Ensembl chr 9:119,778,664...119,842,922

G

selectin E

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 4:81,289,061...81,299,657

G

selectin L

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 4:81,306,363...81,325,296
Ensembl chr 4:81,306,353...81,326,444

G

selectin P

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 4:81,376,804...81,401,240
Ensembl chr 4:81,365,740...81,399,955

G

serpin family C member 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682

NCBI chr 9:116,181,988...116,193,100
Ensembl chr 9:116,181,670...116,193,201

G

SHC binding and spindle associated 1 like

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:124,188,457...124,221,850
Ensembl chr 9:124,187,787...124,221,719

G

solute carrier family 19 member 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 4:81,510,221...81,535,099
Ensembl chr 4:81,510,098...81,536,464

G

SMG7 nonsense mediated mRNA decay factor

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:124,696,432...124,775,739
Ensembl chr 9:124,697,093...124,775,964

G

sterol O-acyltransferase 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:121,045,211...121,112,393
Ensembl chr 9:121,045,234...121,113,692

G

syntaxin 6

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:122,533,737...122,580,631
Ensembl chr 9:122,529,727...122,580,608

G

SUN domain containing ossification factor

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 9:114,916,957...115,007,979
Ensembl chr 9:114,916,855...115,007,972

G

tudor domain containing 5

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:121,245,080...121,337,339
Ensembl chr 9:121,211,960...121,333,220

G

transmembrane epididymal protein 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:123,765,986...123,773,210
Ensembl chr 9:123,770,110...123,770,931

G

testis expressed 35

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:120,351,958...120,377,900
Ensembl chr 9:120,367,303...120,377,810

G

TNF superfamily member 18

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682

NCBI chr 9:115,447,438...115,460,649
Ensembl chr 9:115,448,973...115,460,950

G

TNF superfamily member 4

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682

NCBI chr 9:115,535,185...115,857,457
Ensembl chr 9:115,550,569...115,659,263

G

tenascin N

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682

NCBI chr 9:117,174,743...117,244,041
Ensembl chr 9:117,137,250...117,243,815

G

tenascin R

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682

NCBI chr 9:117,365,930...117,790,332
Ensembl chr 9:117,373,545...117,771,224

G

torsin 1A interacting protein 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:121,515,691...121,566,799
Ensembl chr 9:121,515,570...121,566,796

G

torsin 1A interacting protein 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:121,476,501...121,516,611
Ensembl chr 9:121,476,503...121,518,506

G

torsin family 3 member A

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:120,859,834...120,885,925
Ensembl chr 9:120,860,104...120,885,919

G

vesicle associated membrane protein 4

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 9:114,138,350...114,174,996
Ensembl chr 9:114,138,330...114,174,979

G

xenotropic and polytropic retrovirus receptor 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:122,237,954...122,461,669
Ensembl chr 9:122,237,957...122,458,171

G

zinc finger and BTB domain containing 37

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682

NCBI chr 9:116,149,234...116,179,437
Ensembl chr 9:116,149,293...116,181,689

G

zinc finger protein 648

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 9:123,505,789...123,706,692
Ensembl chr 9:123,507,751...123,509,483

22q11 Deletion Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 8

CTD Direct Evidence: marker/mechanism

NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248

G

SIX homeobox 1

NCBI chr 1:189,620,430...189,624,652
Ensembl chr 1:189,619,855...189,624,651

G

T-box transcription factor 1

NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725

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 chr13:2,922,855...3,135,743
Ensembl chr13:2,922,853...3,135,709

G

biotinidase

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:2,840,425...2,902,619
Ensembl chr13:2,840,456...2,959,846

G

chromosome 13 C3orf20 homolog

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:69,777,152...69,888,828
Ensembl chr13:69,788,148...69,895,217

G

calpain 7

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:2,452,385...2,503,575
Ensembl chr13:2,452,215...2,504,581

G

coiled-coil domain containing 174

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:69,898,803...69,918,896
Ensembl chr13:69,895,325...69,915,655

G

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

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:70,417,326...70,428,923
Ensembl chr13:70,417,326...70,428,922

G

collagen like tail subunit of asymmetric acetylcholinesterase

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:2,677,738...2,755,635
Ensembl chr13:2,677,740...2,755,307

G

deleted in azoospermia like

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:3,762,896...3,783,848
Ensembl chr13:3,764,784...3,782,818

G

diphthamide biosynthesis 3

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:3,391,833...3,395,856
Ensembl chr13:3,391,823...3,395,856

G

ELL associated factor 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:2,654,829...2,671,140
Ensembl chr13:2,654,630...2,671,132

G

EF-hand domain family member B

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:6,826,023...6,898,763
Ensembl chr13:6,824,503...6,898,764

G

fibulin 2

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:70,757,255...70,830,430
Ensembl chr13:70,757,265...70,830,388

G

FYVE, RhoGEF and PH domain containing 5

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:69,594,225...69,724,051
Ensembl chr13:69,594,223...69,724,056

G

polypeptide N-acetylgalactosaminyltransferase 15

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:3,329,824...3,371,094
Ensembl chr13:3,330,023...3,371,091

G

glutamate receptor interacting protein 2

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:69,949,608...70,088,719
Ensembl chr13:69,988,459...70,088,718

G

2-hydroxyacyl-CoA lyase 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:2,786,007...2,840,882
Ensembl chr13:2,766,514...2,840,902

G

histone deacetylase 11

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:70,860,650...70,879,863
Ensembl chr13:70,860,658...70,879,856

G

lysine acetyltransferase 2B

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:6,985,151...7,099,771
Ensembl chr13:6,985,235...7,100,345

G

potassium voltage-gated channel subfamily H member 8

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:6,104,382...6,533,505
Ensembl chr13:6,104,537...6,532,592

G

LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:70,339,685...70,349,802
Ensembl chr13:70,336,907...70,348,651

G

methyltransferase 6, tRNA N3-cytidine

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:2,638,972...2,654,845
Ensembl chr13:2,638,389...2,654,836

G

mitochondrial ribosomal protein S25

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:69,441,100...69,465,912
Ensembl chr13:69,441,116...69,467,895

G

nuclear receptor subfamily 2 group C member 2

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:69,464,798...69,577,638
Ensembl chr13:69,464,795...69,576,946

G

nucleoporin 210

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:70,917,464...71,007,273
Ensembl chr13:70,917,477...71,007,271

G

oxidoreductase NAD binding domain containing 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:3,395,886...3,437,074
Ensembl chr13:3,396,097...3,437,070

G

phospholipase C like 2

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:3,992,230...4,201,574
Ensembl chr13:3,992,835...4,201,569

G

protein phosphatase 2C like domain containing 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:6,939,990...6,958,513
Ensembl chr13:6,939,517...6,961,810

G

RAB5A, member RAS oncogene family

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:6,905,302...6,940,165
Ensembl chr13:6,905,390...6,941,423

G

rabenosyn, RAB effector

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:69,403,995...69,434,829
Ensembl chr13:69,404,021...69,434,829

G

raftlin, lipid raft linker 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:3,454,448...3,675,072
Ensembl chr13:3,454,454...3,674,998

G

SATB homeobox 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:5,315,985...5,410,686
Ensembl chr13:5,314,148...5,417,610

G

SET domain containing 5

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:65,759,973...65,851,747
Ensembl chr13:65,759,987...65,850,506

G

SH3 domain binding protein 5

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:2,504,282...2,585,601
Ensembl chr13:2,506,156...2,585,526

G

solute carrier family 6 member 6

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:70,094,073...70,173,581
Ensembl chr13:70,094,079...70,173,582

G

TBC1 domain family member 5

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:4,191,544...4,738,448
Ensembl chr13:4,201,255...4,633,312

G

THUMP domain containing 3

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:65,720,556...65,747,989
Ensembl chr13:65,721,475...65,747,076

G

transmembrane protein 43

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:70,397,069...70,417,213
Ensembl chr13:70,393,227...70,417,168

G

Wnt family member 7A

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:70,538,802...70,602,464
Ensembl chr13:70,538,894...70,602,454

G

XPC complex subunit, DNA damage recognition and repair factor

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr13:70,348,841...70,397,194
Ensembl chr13:70,348,864...70,397,772

46,XY sex reversal 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SRY-box transcription factor 9

ClinVar Annotator: match by term: 46,XY sex reversal 10

PMID:6620326 PMID:22051515 PMID:25604083

NCBI chr12:8,642,154...8,647,315
Ensembl chr12:8,642,158...8,647,315

46,XY sex reversal 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

doublesex and mab-3 related transcription factor 1

ClinVar Annotator: match by term: 46,XY sex reversal 4

NCBI chr 1:220,841,485...220,953,442
Ensembl chr 1:220,841,488...220,953,442

autosomal dominant intellectual developmental disorder 22

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

zinc finger and BTB domain containing 18

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 22 | ClinVar Annotator: match by term: ZBTB18-related disorder

PMID:24193349 PMID:25741868 PMID:26740508 PMID:27598823 PMID:28135719 More...

NCBI chr10:16,913,022...16,921,722
Ensembl chr10:16,913,025...16,920,586

chromosome 10q23 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein receptor type 1A

OMIM:612242

NCBI chr14:87,743,270...87,891,790
Ensembl chr14:87,742,459...87,891,790

Chromosome 11p Deletion Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

elongator acetyltransferase complex subunit 4

ClinVar Annotator: match by term: 11p deletion syndrome

PMID:25741868 PMID:28492532

NCBI chr 2:29,006,456...29,230,092
Ensembl chr 2:29,004,987...29,230,077

G

paired box 6

ClinVar Annotator: match by term: 11p deletion syndrome

PMID:9727514 PMID:10234503 PMID:12634864 PMID:12868034 PMID:15086958 More...

NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,978,287...29,001,200

G

WT1 transcription factor

ClinVar Annotator: match by term: 11p deletion syndrome

PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More...

NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997

chromosome 13q14 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aconitate decarboxylase 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:49,077,152...49,088,218
Ensembl chr11:49,077,492...49,087,104

G

ALG11 alpha-1,2-mannosyltransferase

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:15,851,352...15,876,452
Ensembl chr11:15,857,367...15,876,405

G

ARF like GTPase 11

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:18,097,723...18,100,425
Ensembl chr11:18,095,974...18,099,819

G

ATPase copper transporting beta

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:15,892,549...15,942,070
Ensembl chr11:15,876,612...15,942,064

G

BORA aurora kinase A activator

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:45,017,651...45,045,127
Ensembl chr11:45,018,333...45,045,126

G

calcium binding protein 39 like

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:18,297,669...18,400,398
Ensembl chr11:18,313,796...18,401,235

G

coiled-coil domain containing 70

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:15,976,814...15,978,050
Ensembl chr11:15,977,289...15,977,945

G

cytidine and dCMP deaminase domain containing 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:18,467,508...18,518,137
Ensembl chr11:18,458,301...18,518,146

G

cytoskeleton associated protein 2

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:15,751,717...15,767,068
Ensembl chr11:15,751,808...15,768,046

G

CLN5 intracellular trafficking protein

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:49,105,822...49,128,425
Ensembl chr11:49,105,878...49,129,886

G

chondromodulin

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:25,959,192...25,994,773
Ensembl chr11:25,961,926...25,994,651

G

COMM domain containing 6

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:47,795,110...47,818,543
Ensembl chr11:47,543,814...47,818,561

G

cysteinyl leukotriene receptor 2

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:18,988,665...19,011,015
Ensembl chr11:18,987,174...19,011,015

G

dachshund family transcription factor 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:43,765,386...44,187,766
Ensembl chr11:43,764,271...44,187,821

G

diaphanous related formin 3

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:32,492,735...32,994,854
Ensembl chr11:32,492,740...32,994,844

G

DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:45,046,040...45,075,973
Ensembl chr11:45,044,508...45,075,963

G

deleted in lymphocytic leukemia 7

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:16,970,802...16,990,609
Ensembl chr11:16,972,554...16,989,488

G

EBP like

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:18,039,978...18,150,729
Ensembl chr11:18,040,011...18,072,633

G

endothelin receptor type B

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884

G

family with sequence similarity 124 member A

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:16,572,298...16,658,094
Ensembl chr11:16,572,302...16,658,162

G

F-box and leucine rich repeat protein 3

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:49,131,663...49,151,380
Ensembl chr11:49,131,665...49,151,009

G

fibronectin type III domain containing 3A

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:18,564,280...18,757,742
Ensembl chr11:18,564,280...18,757,869

G

integrator complex subunit 6

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:16,373,376...16,468,246
Ensembl chr11:16,375,452...16,465,635

G

integral membrane protein 2B

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:19,349,088...19,377,931
Ensembl chr11:19,349,134...19,377,917

G

potassium channel regulator

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:17,784,243...17,796,826
Ensembl chr11:17,784,998...17,794,710

G

potassium channel tetramerization domain containing 12

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:49,025,134...49,033,208
Ensembl chr11:49,025,131...49,031,309

G

KLF transcription factor 12

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:45,981,096...46,655,472
Ensembl chr11:45,985,564...46,459,791

G

KLF transcription factor 5

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:45,370,009...45,386,673
Ensembl chr11:45,369,810...45,388,314

G

kelch like family member 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:42,033,842...42,420,931
Ensembl chr11:42,033,851...42,419,734

G

karyopherin subunit alpha 3

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:17,948,210...18,033,818
Ensembl chr11:17,948,210...18,031,946

G

LIM domain 7

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:47,911,076...48,133,449
Ensembl chr11:48,072,159...48,133,446

G

protocadherin-8

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:26,127,398...26,133,481
Ensembl chr11:26,127,401...26,132,123

G

uncharacterized LOC106505279

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:16,021,127...16,034,650
Ensembl chr11:15,997,827...16,034,395

G

lysophosphatidic acid receptor 6

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:19,216,305...19,220,913
Ensembl chr11:19,219,077...19,220,347

G

mediator complex subunit 4

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:19,551,858...19,566,915
Ensembl chr11:19,551,863...19,566,926

G

microRNA mir-15a

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:17,757,463...17,757,541
Ensembl chr11:17,757,460...17,757,554

G

microRNA mir-16-2

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:17,757,606...17,757,684
Ensembl chr11:17,757,601...17,757,687

G

motilin receptor

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:18,541,958...18,544,111
Ensembl chr11:18,542,028...18,544,112

G

MYC binding protein 2

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:49,163,969...49,432,865
Ensembl chr11:49,163,684...49,432,583

G

mitotic spindle organizing protein 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:45,000,735...45,019,009
Ensembl chr11:44,999,320...45,018,862

G

Nedd4 family interacting protein 2

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:51,493,981...51,560,305
Ensembl chr11:51,420,166...51,560,305

G

NIMA related kinase 3

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:15,772,578...15,798,424
Ensembl chr11:15,772,844...15,798,420

G

NIMA related kinase 5

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:15,799,068...15,862,236
Ensembl chr11:15,806,017...15,862,228

G

nudix hydrolase 15

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:19,572,963...19,584,565
Ensembl chr11:19,572,644...19,584,528

G

ORC ubiquitin ligase 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:50,741,893...50,786,824
Ensembl chr11:50,740,916...50,786,774

G

olfactomedin 4

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:26,252,948...26,375,531
Ensembl chr11:26,350,203...26,375,716

G

protocadherin 17

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:30,510,779...30,611,732
Ensembl chr11:30,511,275...30,611,727

G

protocadherin 20

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:34,384,507...34,390,265
Ensembl chr11:34,384,511...34,389,730

G

protocadherin 9

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:38,522,221...39,455,166
Ensembl chr11:38,523,033...39,453,741

G

PHD finger protein 11

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:18,205,073...18,252,082
Ensembl chr11:18,205,078...18,251,948

G

progesterone immunomodulatory binding factor 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:45,076,046...45,362,708
Ensembl chr11:45,076,062...45,362,887

G

POU class 4 homeobox 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:50,729,746...50,732,626
Ensembl chr11:50,730,428...50,732,539

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690

G

RNA binding motif protein 26

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:51,337,388...51,421,746
Ensembl chr11:51,339,629...51,420,512

G

RCC1 and BTB domain containing protein 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:18,132,013...18,197,759
Ensembl chr11:18,114,767...18,197,747

G

RCC1 and BTB domain containing protein 2

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:19,081,841...19,182,488
Ensembl chr11:19,106,531...19,182,484

G

ribonuclease H2 subunit B

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:16,825,799...16,911,959
Ensembl chr11:16,825,128...16,911,969

G

sciellin

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:49,651,589...49,777,777
Ensembl chr11:49,651,673...49,775,429

G

serpin family E member 3

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:16,465,521...16,500,580
Ensembl chr11:16,466,475...16,500,541

G

SET domain bifurcated histone lysine methyltransferase 2

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:18,252,525...18,298,234
Ensembl chr11:18,252,524...18,297,826

G

SLAIN motif family member 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:49,807,976...49,886,829
Ensembl chr11:49,807,994...49,886,822

G

SLIT and NTRK like family member 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:54,950,669...54,955,768
Ensembl chr11:54,950,676...54,955,949

G

SLIT and NTRK like family member 6

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:56,508,713...56,522,270
Ensembl chr11:56,508,767...56,522,197

G

sprouty RTK signaling antagonist 2

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:52,153,695...52,158,766
Ensembl chr11:52,153,704...52,159,156

G

SPRY domain containing 7

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:17,849,011...17,870,090
Ensembl chr11:17,848,852...17,872,257

G

succinate-CoA ligase ADP-forming subunit beta

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:19,616,415...19,670,667
Ensembl chr11:19,616,495...19,670,662

G

SGT1 homolog, MIS12 kinetochore complex assembly cochaperone

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:25,905,442...25,960,665
Ensembl chr11:25,906,010...25,954,210

G

TBC1 domain family member 4

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:47,543,808...47,760,928
Ensembl chr11:47,543,815...47,828,208

G

tudor domain containing 3

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:33,257,556...33,440,131
Ensembl chr11:33,258,063...33,440,123

G

thrombospondin type 1 domain containing 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:15,668,435...15,698,031
Ensembl chr11:15,668,813...15,697,872

G

tripartite motif containing 13

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:17,785,031...17,850,005
Ensembl chr11:17,793,784...17,849,732

G

ubiquitin C-terminal hydrolase L3

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:47,829,037...47,885,800
Ensembl chr11:47,828,421...47,887,629

G

vacuolar protein sorting 36 homolog

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:15,701,370...15,735,469
Ensembl chr11:15,701,373...15,735,474

G

WD repeat and FYVE domain containing 2

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr11:16,086,872...16,272,513
Ensembl chr11:16,092,698...16,195,134

chromosome 15q11.2 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amyloid beta precursor protein binding family A member 2

ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome

NCBI chr 1:144,183,148...144,315,154
Ensembl chr 1:144,071,859...144,315,151

G

ATPase phospholipid transporting 10A (putative)

ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome

PMID:25741868 PMID:31690835

NCBI chr 1:141,493,551...141,667,346
Ensembl chr 1:141,570,493...141,667,338

G

activator of transcription and developmental regulator AUTS2

ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome

PMID:25205402 PMID:25741868 PMID:28505103

NCBI chr 3:13,565,439...14,794,365
Ensembl chr 3:13,565,281...14,794,365

G

cholinergic receptor nicotinic alpha 7 subunit

ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome

NCBI chr 1:142,803,697...142,937,124
Ensembl chr 1:142,803,701...142,937,123

G

clustered mitochondria homolog

ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome

NCBI chr12:48,740,117...48,763,496
Ensembl chr12:48,733,505...48,764,748

G

cytoplasmic FMR1 interacting protein 1

ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome

PMID:25741868 PMID:31690835 PMID:36901699

NCBI chr15:32,064,431...32,175,095
Ensembl chr15:32,064,428...32,175,094

G

endosomal transmembrane epsin interactor 2

ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome

NCBI chr 1:144,316,119...144,788,091
Ensembl chr 1:144,316,121...144,788,290

G

gamma-aminobutyric acid type A receptor subunit alpha5

ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome

PMID:25741868 PMID:31690835

NCBI chr 1:140,486,107...140,568,204
Ensembl chr 1:140,486,104...140,567,894

G

gamma-aminobutyric acid type A receptor subunit beta3

ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome

PMID:25741868 PMID:31690835

NCBI chr 1:140,566,443...140,906,516
Ensembl chr 1:140,566,540...140,905,623

G

gamma-aminobutyric acid type A receptor subunit gamma3

ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome

PMID:25741868 PMID:31690835

NCBI chr 1:139,855,461...140,464,592
Ensembl chr 1:139,857,095...140,464,579

G

HECT and RLD domain containing E3 ubiquitin protein ligase 2

ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome

PMID:25741868 PMID:31690835

NCBI chr15:56,438,117...56,649,805
Ensembl chr15:56,438,148...56,649,792

G

coiled-coil domain-containing protein 92

ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome

NCBI chr12:48,773,571...48,800,393

G

MAGE family member L2

ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome

PMID:25741868 PMID:31690835

NCBI chr 1:142,450,414...142,454,633
Ensembl chr 1:142,448,689...142,454,697

G

makorin ring finger protein 3

ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome

PMID:25741868 PMID:31690835

NCBI chr 1:142,492,089...142,500,968
Ensembl chr 1:142,496,735...142,500,982

G

necdin, MAGE family member

ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome

PMID:25741868 PMID:31690835

NCBI chr 1:142,412,688...142,413,665
Ensembl chr 1:142,412,565...142,414,240

G

NIPA magnesium transporter 1

ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome

PMID:25741868 PMID:31690835 PMID:36901699

NCBI chr15:32,208,857...32,260,064
Ensembl chr15:32,208,860...32,260,006

G

NIPA magnesium transporter 2

ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome

PMID:25741868 PMID:31690835 PMID:36901699

NCBI chr15:32,175,096...32,202,366
Ensembl chr15:32,175,104...32,202,200

G

nuclear pore associated protein 1

ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome

PMID:25741868 PMID:31690835

NCBI chr 1:233,074,862...233,080,760

G

NSE3 homolog, SMC5-SMC6 complex component

ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome

NCBI chr 1:144,469,617...144,474,026

G

OCA2 melanosomal transmembrane protein

ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome

PMID:25741868 PMID:31690835

NCBI chr15:56,657,648...56,869,920
Ensembl chr15:56,657,616...56,869,918

G

OTU deubiquitinase 7A

ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome

NCBI chr 1:143,109,177...143,426,305
Ensembl chr 1:143,280,174...143,419,237

G

platelet activating factor acetylhydrolase 1b regulatory subunit 1

ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome

NCBI chr12:48,567,329...48,735,836
Ensembl chr12:48,628,816...48,735,834

G

RAP1 GTPase activating protein 2

ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome

NCBI chr12:48,806,834...49,018,117
Ensembl chr12:48,806,772...49,018,114

G

small nuclear ribonucleoprotein polypeptide N

ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome

PMID:25741868 PMID:31690835

G

SNRPN upstream open reading frame

ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome

PMID:25741868 PMID:31690835

G

tight junction protein 1

ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome

NCBI chr 1:144,930,387...145,195,857
Ensembl chr 1:144,930,370...145,195,836

G

tubulin gamma complex component 5

ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome

PMID:25741868 PMID:31690835 PMID:36901699

NCBI chr15:31,995,727...32,042,297
Ensembl chr15:31,995,741...32,056,755

G

ubiquitin protein ligase E3A

ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome

PMID:25741868 PMID:31690835

NCBI chr 1:141,887,179...142,001,595
Ensembl chr 1:141,887,227...141,995,003

chromosome 15q13.3 microdeletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cholinergic receptor nicotinic alpha 7 subunit

ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 1:142,803,697...142,937,124
Ensembl chr 1:142,803,701...142,937,123

G

FANCD2 and FANCI associated nuclease 1

ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome

NCBI chr 1:143,919,695...143,961,678
Ensembl chr 1:143,913,551...143,961,646

G

KLF transcription factor 13

ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome

NCBI chr 1:143,499,136...143,540,233
Ensembl chr 1:143,493,527...143,540,563

G

myotubularin related protein 10

ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome

NCBI chr 1:143,867,746...143,917,881
Ensembl chr 1:143,867,839...143,917,878

G

OTU deubiquitinase 7A

ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome

NCBI chr 1:143,109,177...143,426,305
Ensembl chr 1:143,280,174...143,419,237

G

transient receptor potential cation channel subfamily M member 1

ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome

NCBI chr 1:143,718,295...143,856,968
Ensembl chr 1:143,709,864...143,855,984

chromosome 15q24 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ciliary microtubule associated protein 1C

ClinVar Annotator: match by term: Witteveen-kolk syndrome

PMID:18755302 PMID:19557438 PMID:21681106

NCBI chr 7:57,935,284...57,939,020
Ensembl chr 7:57,935,610...57,938,958

G

COMM domain containing 4

ClinVar Annotator: match by term: Witteveen-kolk syndrome

PMID:18755302 PMID:19557438 PMID:21681106

NCBI chr 7:58,276,954...58,283,128
Ensembl chr 7:58,276,957...58,283,114

G

chondroitin sulfate proteoglycan 4

ClinVar Annotator: match by term: Witteveen-kolk syndrome

PMID:18755302 PMID:19557438 PMID:21681106

NCBI chr 7:57,949,182...57,988,602
Ensembl chr 7:57,949,455...57,988,335

G

IMP U3 small nucleolar ribonucleoprotein 3

ClinVar Annotator: match by term: Witteveen-kolk syndrome

PMID:18755302 PMID:19557438 PMID:21681106

NCBI chr 7:58,023,368...58,024,496
Ensembl chr 7:58,023,368...58,024,496

G

mannosidase alpha class 2C member 1

ClinVar Annotator: match by term: Witteveen-kolk syndrome

PMID:18755302 PMID:19557438 PMID:21681106

NCBI chr 7:58,247,264...58,261,204
Ensembl chr 7:58,248,384...58,261,203

G

nei like DNA glycosylase 1

ClinVar Annotator: match by term: Witteveen-kolk syndrome

PMID:18755302 PMID:19557438 PMID:21681106

NCBI chr 7:58,261,761...58,269,001
Ensembl chr 7:58,261,769...58,268,522

G

protein tyrosine phosphatase non-receptor type 9

ClinVar Annotator: match by term: Witteveen-kolk syndrome

PMID:18755302 PMID:19557438 PMID:21681106

NCBI chr 7:58,078,176...58,164,411
Ensembl chr 7:58,078,389...58,164,405

G

SIN3 transcription regulator family member A

ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome | ClinVar Annotator: match by term: SIN3A-related condition | ClinVar Annotator: match by term: SIN3A-related intellectual disability syndrome | ClinVar Annotator: match by term: Witteveen-kolk syndrome

PMID:18755302 PMID:19557438 PMID:21681106 PMID:25741868 PMID:27399968 More...

NCBI chr 7:58,171,821...58,246,126
Ensembl chr 7:58,176,167...58,245,971

G

snurportin 1

ClinVar Annotator: match by term: Witteveen-kolk syndrome

PMID:18755302 PMID:19557438 PMID:21681106

NCBI chr 7:58,038,917...58,065,972
Ensembl chr 7:58,038,995...58,071,243

G

sorting nexin 33

ClinVar Annotator: match by term: Witteveen-kolk syndrome

PMID:18755302 PMID:19557438 PMID:21681106

NCBI chr 7:57,999,447...58,015,598
Ensembl chr 7:57,999,459...58,014,441

chromosome 15q26-qter deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif 17

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

NCBI chr 1:138,619,701...139,015,681
Ensembl chr 1:138,619,706...139,015,473

G

aldehyde dehydrogenase 1 family member A3

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

NCBI chr 1:139,451,080...139,491,514
Ensembl chr 1:139,451,049...139,491,511

G

ankyrin repeat and SOCS box containing 7

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

NCBI chr 1:139,191,407...139,240,206
Ensembl chr 1:139,191,572...139,240,185

G

ceramide synthase 3

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

NCBI chr 1:139,027,604...139,154,830
Ensembl chr 1:139,030,642...139,136,874

G

chondroitin sulfate synthase 1

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

NCBI chr 1:139,730,703...139,804,458
Ensembl chr 1:139,730,721...139,804,657

G

insulin like growth factor 1 receptor

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

NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058

G

lines homolog 1

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

NCBI chr 1:139,168,859...139,191,238
Ensembl chr 1:139,168,785...139,191,163

G

leucine rich repeat containing 28

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

NCBI chr 1:137,998,540...138,194,848
Ensembl chr 1:137,998,554...138,203,466

G

leucine rich repeat kinase 1

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

NCBI chr 1:139,494,126...139,624,609
Ensembl chr 1:139,494,121...139,624,604

G

LysM domain containing 4

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

NCBI chr 1:138,560,985...138,567,570
Ensembl chr 1:138,560,995...138,567,562

G

myocyte enhancer factor 2A

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

NCBI chr 1:138,398,270...138,508,639
Ensembl chr 1:138,341,158...138,511,314

G

pyroglutamyl-peptidase I like

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

NCBI chr 1:137,307,784...137,384,465
Ensembl chr 1:137,308,438...137,380,864

G

synemin

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

NCBI chr 1:137,855,644...137,883,914

G

tetratricopeptide repeat domain 23

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

NCBI chr 1:137,870,897...137,997,201
Ensembl chr 1:137,886,405...137,997,131

chromosome 16p11.2 deletion syndrome, 220-kb

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1

ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome

NCBI chr 3:18,545,064...18,568,312
Ensembl chr 3:18,545,071...18,568,310

G

ataxin 2 like

ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome

NCBI chr 3:18,506,082...18,519,060
Ensembl chr 3:18,506,052...18,519,056

G

CD19 molecule

ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome

NCBI chr 3:18,592,785...18,601,273
Ensembl chr 3:18,592,880...18,601,263

G

linker for activation of T cells

ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome

NCBI chr 3:18,638,992...18,644,353
Ensembl chr 3:18,638,992...18,644,349

G

nuclear factor of activated T cells 2 interacting protein

ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome

NCBI chr 3:18,609,943...18,624,150
Ensembl chr 3:18,609,912...18,622,640

G

rabaptin, RAB GTPase binding effector protein 2

ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome

NCBI chr 3:18,568,264...18,586,259
Ensembl chr 3:18,568,266...18,585,925

G

SH2B adaptor protein 1

ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome, 220 kb | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:28492532 PMID:29631267 PMID:31439647

NCBI chr 3:18,533,282...18,543,133
Ensembl chr 3:18,524,820...18,543,135

G

SPNS lysolipid transporter 1, lysophospholipid

ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome

NCBI chr 3:18,629,646...18,638,442
Ensembl chr 3:18,629,646...18,639,214

G

Tu translation elongation factor, mitochondrial

ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome

NCBI chr 3:18,521,119...18,524,705
Ensembl chr 3:18,521,128...18,524,959

chromosome 16p11.2 deletion syndrome, 593-kb

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldolase, fructose-bisphosphate A

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:18,246,036...18,260,167
Ensembl chr 3:18,253,384...18,260,163

G

aspartate beta-hydroxylase domain containing 1

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:18,120,915...18,124,519

G

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835 PMID:32238909

NCBI chr 3:18,545,064...18,568,312
Ensembl chr 3:18,545,071...18,568,310

G

ataxin 2 like

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835 PMID:32238909

NCBI chr 3:18,506,082...18,519,060
Ensembl chr 3:18,506,052...18,519,056

G

bolA family member 2B

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

NCBI chr 3:18,345,691...18,351,508

G

chromosome 3 C16orf54 homolog

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:18,011,402...18,014,281

G

chromosome 3 C16orf92 homolog

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:18,222,923...18,223,528

G

CD19 molecule

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835 PMID:32238909

NCBI chr 3:18,592,785...18,601,273
Ensembl chr 3:18,592,880...18,601,263

G

CDP-diacylglycerol--inositol 3-phosphatidyltransferase

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:18,087,497...18,095,015
Ensembl chr 3:18,084,549...18,091,798

G

coronin 1A

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:18,336,813...18,342,381
Ensembl chr 3:18,336,898...18,342,396

G

double C2 domain alpha

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:18,211,264...18,216,096
Ensembl chr 3:18,210,965...18,216,102

G

glycerophosphodiester phosphodiesterase domain containing 3

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:18,282,574...18,291,307
Ensembl chr 3:18,282,889...18,292,092

G

HIRA interacting protein 3

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:18,198,809...18,201,907
Ensembl chr 3:18,198,807...18,202,089

G

INO80 complex subunit E

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:18,202,092...18,212,187
Ensembl chr 3:18,202,134...18,212,186

G

potassium channel tetramerization domain containing 13

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:18,124,628...18,141,589
Ensembl chr 3:18,124,573...18,141,565

G

kinesin family member 22

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:18,023,104...18,041,732
Ensembl chr 3:18,023,096...18,041,730

G

linker for activation of T cells

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835 PMID:32238909

NCBI chr 3:18,638,992...18,644,353
Ensembl chr 3:18,638,992...18,644,349

G

mitogen-activated protein kinase 3

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567

G

MYC associated zinc finger protein

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:18,043,032...18,047,531
Ensembl chr 3:18,042,000...18,047,536

G

major vault protein

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:18,056,548...18,081,169
Ensembl chr 3:18,057,177...18,081,155

G

nuclear factor of activated T cells 2 interacting protein

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835 PMID:32238909

NCBI chr 3:18,609,943...18,624,150
Ensembl chr 3:18,609,912...18,622,640

G

PAXIP1 associated glutamate rich protein 1

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:18,052,679...18,056,920
Ensembl chr 3:18,052,935...18,056,837

G

protein phosphatase 4 catalytic subunit

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:18,262,817...18,271,588
Ensembl chr 3:18,262,823...18,271,586

G

proline rich transmembrane protein 2

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:18,048,614...18,052,481
Ensembl chr 3:18,048,618...18,052,480

G

quinolinate phosphoribosyltransferase

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:17,987,223...18,001,712
Ensembl chr 3:17,987,242...18,001,711

G

rabaptin, RAB GTPase binding effector protein 2

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835 PMID:32238909

NCBI chr 3:18,568,264...18,586,259
Ensembl chr 3:18,568,266...18,585,925

G

seizure related 6 homolog like 2

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:18,098,109...18,119,522
Ensembl chr 3:18,098,102...18,119,558

G

surfactant protein A1

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

NCBI chr14:82,091,178...82,095,393
Ensembl chr14:82,091,178...82,095,393

G

SH2B adaptor protein 1

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835 PMID:32238909

NCBI chr 3:18,533,282...18,543,133
Ensembl chr 3:18,524,820...18,543,135

G

SLX1 homolog A, structure-specific endonuclease subunit

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

NCBI chr 3:18,346,501...18,349,509

G

sialophorin

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:17,978,731...17,982,222
Ensembl chr 3:17,978,801...17,982,864

G

SPNS lysolipid transporter 1, lysophospholipid

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835 PMID:32238909

NCBI chr 3:18,629,646...18,638,442
Ensembl chr 3:18,629,646...18,639,214

G

TAO kinase 2

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:18,178,347...18,198,092
Ensembl chr 3:18,177,737...18,198,085

G

T-box transcription factor 6

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:18,271,983...18,277,864
Ensembl chr 3:18,271,983...18,277,580

G

TLC domain containing 3B

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:18,224,652...18,231,416
Ensembl chr 3:18,223,875...18,231,844

G

transmembrane protein 219

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:18,166,771...18,177,834
Ensembl chr 3:18,167,923...18,176,563

G

Tu translation elongation factor, mitochondrial

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835 PMID:32238909

NCBI chr 3:18,521,119...18,524,705
Ensembl chr 3:18,521,128...18,524,959

G

yippee like 3

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:18,277,999...18,281,342
Ensembl chr 3:18,278,002...18,281,298

G

zymogen granule protein 16

ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome

PMID:25741868 PMID:31690835

NCBI chr 3:18,018,866...18,019,501

chromosome 16p12.1 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cerebellar degeneration related protein 2

ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb

NCBI chr 3:23,796,803...23,835,255
Ensembl chr 3:23,796,773...23,835,247

G

eukaryotic elongation factor 2 kinase

ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb

NCBI chr 3:23,887,120...23,980,231
Ensembl chr 3:23,887,125...23,956,373

G

modulator of smoothened

ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb

NCBI chr 3:24,107,878...24,176,161
Ensembl chr 3:24,107,877...24,176,166

G

PDZ domain containing 9

ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb

NCBI chr 3:24,176,240...24,201,861
Ensembl chr 3:24,185,627...24,201,541

G

RNA polymerase III subunit E

ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb

NCBI chr 3:23,846,979...23,880,631
Ensembl chr 3:23,846,359...23,880,614

G

short chain dehydrogenase/reductase family 42E, member 2

ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb

NCBI chr 3:23,989,671...24,026,548
Ensembl chr 3:23,990,242...24,023,024

G

ubiquinol-cytochrome c reductase core protein 2

ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb

NCBI chr 3:24,197,743...24,228,831
Ensembl chr 3:24,197,747...24,228,832

G

von Willebrand factor A domain containing 3A

ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb

NCBI chr 3:24,028,836...24,097,582
Ensembl chr 3:24,031,331...24,097,393

chromosome 16q22 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ACD shelterin complex subunit and telomerase recruitment factor

ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome

NCBI chr 6:28,277,649...28,280,409
Ensembl chr 6:28,277,614...28,280,405

G

chromosome 6 C16orf86 homolog

ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome

NCBI chr 6:28,287,414...28,289,248
Ensembl chr 6:28,287,414...28,289,406

G

capping protein regulator and myosin 1 linker 2

ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome

NCBI chr 6:28,265,130...28,277,649
Ensembl chr 6:28,265,135...28,277,641

G

CCCTC-binding factor

ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome

NCBI chr 6:28,188,002...28,261,009
Ensembl chr 6:28,195,647...28,261,009

G

enkurin domain containing 1

ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome

NCBI chr 6:28,283,108...28,289,266
Ensembl chr 6:28,283,117...28,287,306

G

Gfo/Idh/MocA-like oxidoreductase domain containing 2

ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome

NCBI chr 6:28,293,957...28,348,197
Ensembl chr 6:28,293,967...28,348,161

G

par-6 family cell polarity regulator alpha

ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome

NCBI chr 6:28,280,502...28,282,923
Ensembl chr 6:28,280,502...28,283,788

G

RAN binding protein 10

ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome

NCBI chr 6:28,352,001...28,428,383
Ensembl chr 6:28,352,003...28,428,370

Chromosome 17 Deletion

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KAT8 regulatory NSL complex subunit 1

CTD Direct Evidence: marker/mechanism

PMID:22544363 PMID:22544367

NCBI chr12:16,901,611...17,096,912
Ensembl chr12:16,903,450...17,096,916

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

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 chr12:42,793,755...42,808,937
Ensembl chr12:42,795,409...42,808,897

chromosome 17q12 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apoptosis antagonizing transcription factor

ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome

PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545

NCBI chr12:38,461,809...38,563,537
Ensembl chr12:38,461,830...38,564,306

G

acetyl-CoA carboxylase alpha

ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome

PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545

NCBI chr12:38,580,916...38,875,067
Ensembl chr12:38,581,457...38,824,712

G

chromosome 12 C17orf78 homolog

ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome

PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545

NCBI chr12:38,840,980...38,860,454
Ensembl chr12:38,841,849...38,855,036

G

chemokine (C-C motif) ligand 3-like 1

ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome

PMID:24088041 PMID:26633545

NCBI chr12:39,491,999...39,493,345
Ensembl chr12:39,491,914...39,493,774

G

C-C motif chemokine ligand 4

ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome

PMID:24088041 PMID:26633545

NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,882...39,481,082

G

DExD-box helicase 52

ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome

PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545

NCBI chr12:39,072,310...39,095,558
Ensembl chr12:39,072,314...39,143,685

G

dehydrogenase/reductase 11

ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome

PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545

NCBI chr12:38,114,017...38,123,360
Ensembl chr12:38,113,912...38,123,839

G

dual specificity phosphatase 14

ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome

PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545

NCBI chr12:38,941,052...38,978,568
Ensembl chr12:38,941,124...38,975,000

G

gametogenetin binding protein 2

ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome

PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545

NCBI chr12:38,074,033...38,111,719
Ensembl chr12:38,074,094...38,111,710

G

HNF1 homeobox B

ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome

PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545

NCBI chr12:39,143,119...39,201,631
Ensembl chr12:39,143,121...39,201,631

G

LIM homeobox 1

ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome

PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545

NCBI chr12:38,450,708...38,457,583
Ensembl chr12:38,450,708...38,456,139

G

C-C motif chemokine 3

ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome

PMID:24088041 PMID:26633545

NCBI chr12:39,521,649...39,575,970

G

mitochondrial rRNA methyltransferase 1

ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome

PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545

NCBI chr12:38,123,505...38,143,894
Ensembl chr12:38,124,400...38,144,083

G

mitochondrial ribosomal protein L45

ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome

PMID:24088041 PMID:26633545

NCBI chr12:23,751,921...23,766,476
Ensembl chr12:23,751,926...23,766,459

G

myosin XIX

ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome

PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545

NCBI chr12:38,020,102...38,073,968
Ensembl chr12:38,020,110...38,061,883

G

phosphatidylinositol glycan anchor biosynthesis class W

ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome

PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545

NCBI chr12:38,059,674...38,065,702
Ensembl chr12:38,061,927...38,065,713

G

synergin gamma

ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome

PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545

NCBI chr12:38,974,567...39,069,868
Ensembl chr12:38,975,916...39,069,798

G

transcriptional adaptor 2A

ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome

PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545

NCBI chr12:38,875,156...38,928,011
Ensembl chr12:38,875,250...38,928,005

G

zinc finger HIT-type containing 3

ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome

PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545

NCBI chr12:38,013,931...38,027,928
Ensembl chr12:38,013,963...38,022,927

chromosome 17q23.1-q23.2 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 2 member 1

ClinVar Annotator: match by term: Chromosome 17q23.1-q23.2 deletion syndrome

PMID:12325075 PMID:17052934 PMID:17718830 PMID:19798636 PMID:21546317 More...

NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,535,440...168,560,867

chromosome 18p deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AFG3 like matrix AAA peptidase subunit 2

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:97,200,890...97,234,577
Ensembl chr 6:97,200,922...97,235,366

G

A-kinase anchor inhibitor 1

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:101,786,506...101,873,213
Ensembl chr 6:101,816,967...101,873,206

G

ankyrin repeat domain 12

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:98,697,207...98,814,727
Ensembl chr 6:98,697,174...98,815,336

G

APC down-regulated 1

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:97,991,418...98,026,590
Ensembl chr 6:97,992,233...98,026,766

G

Rho GTPase activating protein 28

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:100,494,385...100,681,008
Ensembl chr 6:100,494,652...100,655,708

G

centrosomal protein 192

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:96,611,560...96,733,800
Ensembl chr 6:96,710,701...96,733,795
Ensembl chr 6:96,710,701...96,733,795

G

centrosomal protein 76

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:96,893,529...96,913,226
Ensembl chr 6:96,893,571...96,912,389

G

charged multivesicular body protein 1B

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:97,356,924...97,359,613

G

cell death inducing DFFA like effector a

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:97,253,074...97,268,355
Ensembl chr 6:97,253,074...97,267,405

G

DLG associated protein 1

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:102,333,088...103,199,841
Ensembl chr 6:102,642,677...103,199,837

G

elastin microfibril interfacer 2

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:103,730,618...103,786,921
Ensembl chr 6:103,730,626...103,786,927

G

erythrocyte membrane protein band 4.1 like 3

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:101,420,376...101,671,177
Ensembl chr 6:101,420,396...101,671,169

G

family with sequence similarity 210 member A

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:96,363,440...96,394,001
Ensembl chr 6:96,384,758...96,393,999

G

G protein subunit alpha L

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:97,342,468...97,429,334
Ensembl chr 6:97,342,474...97,429,364

G

inositol monophosphatase 2

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:97,280,008...97,309,729
Ensembl chr 6:97,280,010...97,309,745

G

laminin subunit alpha 1

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:100,332,843...100,468,457
Ensembl chr 6:100,332,956...100,468,454

G

low density lipoprotein receptor class A domain containing 4

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:96,401,650...96,578,162
Ensembl chr 6:96,401,654...96,577,643

G

myosin regulatory light chain 2 protein

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:103,413,841...103,424,790
Ensembl chr 6:103,409,717...103,420,286

G

lipin 2

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:103,625,725...103,728,151
Ensembl chr 6:103,687,743...103,728,148

G

leucine rich repeat containing 30

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:100,290,257...100,292,242

G

melanocortin 2 receptor

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:96,241,744...96,268,870
Ensembl chr 6:96,265,764...96,266,657

G

melanocortin 5 receptor

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:96,322,276...96,323,795
Ensembl chr 6:96,322,422...96,323,339

G

metallophosphoesterase 1

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:97,324,652...97,344,068
Ensembl chr 6:97,324,727...97,344,736

G

microtubule crosslinking factor 1

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:99,062,347...99,178,570
Ensembl chr 6:99,062,354...99,178,468

G

myomesin 1

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:103,451,206...103,593,093
Ensembl chr 6:103,451,343...103,597,297

G

NSF attachment protein gamma

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:97,961,307...97,974,974
Ensembl chr 6:97,961,313...97,974,636

G

NADH:ubiquinone oxidoreductase core subunit V2

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:98,819,156...98,852,561
Ensembl chr 6:98,815,885...98,852,524

G

piezo type mechanosensitive ion channel component 2

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:97,644,115...97,945,693
Ensembl chr 6:97,643,978...97,944,456

G

protein phosphatase 4 regulatory subunit 1

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:98,462,833...98,539,649
Ensembl chr 6:98,462,855...98,544,477

G

PRELI domain containing 3A

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:97,140,129...97,200,792
Ensembl chr 6:97,146,206...97,172,533

G

proteasome assembly chaperone 2

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:96,879,009...96,893,551
Ensembl chr 6:96,878,139...96,893,474

G

protein tyrosine phosphatase non-receptor type 2

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:96,769,862...96,847,136
Ensembl chr 6:96,770,253...96,847,125

G

protein tyrosine phosphatase receptor type M

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:99,350,301...100,092,966
Ensembl chr 6:99,350,303...100,092,883

G

RAB12, member RAS oncogene family

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:99,216,225...99,244,627
Ensembl chr 6:99,216,228...99,244,868

G

RAB31, member RAS oncogene family

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:98,278,644...98,385,857
Ensembl chr 6:98,278,647...98,385,795

G

ralA binding protein 1

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:98,550,925...98,598,945
Ensembl chr 6:98,550,933...98,598,206

G

RNA guanine-7 methyltransferase

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:96,338,283...96,362,814
Ensembl chr 6:96,338,288...96,360,169

G

structural maintenance of chromosomes flexible hinge domain containing 1

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:103,809,732...103,986,057
Ensembl chr 6:103,808,066...103,965,335

G

spire type actin nucleation factor 1

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:96,934,023...97,114,591
Ensembl chr 6:96,934,227...97,114,587

G

TGFB induced factor homeobox 1

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:103,226,395...103,234,591
Ensembl chr 6:103,226,402...103,234,610

G

transmembrane protein 200C

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:101,211,852...101,217,574
Ensembl chr 6:101,214,902...101,216,782

G

tubulin beta 6 class V

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:97,233,639...97,240,692
Ensembl chr 6:97,229,868...97,240,662

G

twisted gastrulation BMP signaling modulator 1

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:98,629,116...98,678,322
Ensembl chr 6:98,625,505...98,678,258

G

thioredoxin domain containing 2

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:98,271,124...98,276,039

G

VAMP associated protein A

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:98,212,335...98,254,272
Ensembl chr 6:98,210,053...98,254,226

G

zinc finger and BTB domain containing 14

ClinVar Annotator: match by term: Del(18p) syndrome

NCBI chr 6:101,757,067...101,764,531
Ensembl chr 6:101,758,014...101,764,531

chromosome 18q deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADNP homeobox 2

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 6:128,071,503...128,113,292
Ensembl chr 6:128,030,715...128,113,288

G

ankyrin repeat domain 29

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:108,461,111...108,517,594
Ensembl chr 6:108,459,489...108,517,232

G

aquaporin 4

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109

G

arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 1:95,951,387...96,072,522
Ensembl chr 1:95,950,746...96,066,928

G

arkadia (RNF111) N-terminal like PKA signaling regulator 2N

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 1:95,808,695...95,899,307
Ensembl chr 1:95,809,188...95,895,020

G

ASXL transcriptional regulator 3

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:117,334,177...117,518,589
Ensembl chr 6:117,334,259...117,518,026

G

ATP synthase F1 subunit alpha

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 1:95,738,789...95,750,835
Ensembl chr 1:95,733,090...95,750,841

G

ATPase phospholipid transporting 9B (putative)

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:146,022,975...146,228,847
Ensembl chr 1:146,022,978...146,221,769

G

beta-1,4-galactosyltransferase 6

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:115,525,515...115,593,265
Ensembl chr 6:115,524,636...115,593,270

G

BCL2 apoptosis regulator

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879

G

chromosome 1 C18orf63 homolog

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:149,685,242...149,725,523
Ensembl chr 1:149,687,631...149,725,161

G

chromosome 6 C18orf21 homolog

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:119,735,388...119,745,729
Ensembl chr 6:119,735,712...119,745,317

G

calcium binding tyrosine phosphorylation regulated

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:108,971,340...108,997,295
Ensembl chr 6:108,969,948...108,997,297

G

cerebellin 2 precursor

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:150,966,003...150,980,757
Ensembl chr 1:150,973,622...150,980,757

G

coiled-coil domain containing 102B

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:153,687,961...153,933,096

G

coiled-coil domain containing 178

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:116,765,040...117,187,000
Ensembl chr 6:116,764,203...117,202,212

G

CD226 molecule

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:152,872,878...152,977,162
Ensembl chr 1:152,882,762...152,979,845

G

cadherin 19

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:155,669,361...155,758,550
Ensembl chr 1:155,669,420...155,758,548

G

cadherin 2

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:112,396,713...112,629,073
Ensembl chr 6:112,396,721...112,628,432

G

cadherin 20

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:159,817,091...160,024,985
Ensembl chr 1:159,817,159...159,917,145

G

cadherin 7

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:156,295,885...156,436,375
Ensembl chr 1:156,295,434...156,435,822

G

CUGBP Elav-like family member 4

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:121,065,604...121,381,052
Ensembl chr 6:121,066,772...121,381,028

G

carbohydrate sulfotransferase 9

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:111,460,257...111,849,411
Ensembl chr 6:111,465,126...111,719,888

G

carnosine dipeptidase 1

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:149,523,983...149,564,728
Ensembl chr 1:149,521,510...149,562,623

G

carnosine dipeptidase 2

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:149,565,327...149,584,319
Ensembl chr 1:149,565,335...149,583,998

G

CTD phosphatase subunit 1

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:145,769,763...145,811,673
Ensembl chr 1:145,769,771...145,811,678

G

cap binding complex dependent translation initiation factor

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 1:98,133,313...98,455,130
Ensembl chr 1:98,133,342...98,456,433

G

cytochrome b5 type A

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:149,737,584...149,773,222
Ensembl chr 1:149,737,571...149,773,219

G

divergent protein kinase domain 1C

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:149,611,232...149,629,777
Ensembl chr 1:149,611,380...149,629,078

G

docking protein 6

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:152,990,887...153,393,432
Ensembl chr 1:152,997,319...153,393,418

G

desmocollin 1

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:115,042,225...115,076,097
Ensembl chr 6:115,039,722...115,076,097

G

desmocollin 2

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:114,982,259...115,021,332
Ensembl chr 6:114,980,601...115,021,305

G

desmocollin 3

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:114,916,759...114,963,688
Ensembl chr 6:114,916,767...114,963,609

G

dermatan sulfate epimerase like

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:154,919,331...154,937,484
Ensembl chr 1:154,919,550...154,935,561

G

desmoglein 1

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:115,237,836...115,272,944
Ensembl chr 6:115,237,677...115,276,645

G

desmoglein 2

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:115,400,223...115,453,763
Ensembl chr 6:115,400,243...115,454,340

G

desmoglein 3

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:115,352,005...115,383,750
Ensembl chr 6:115,351,925...115,383,743

G

desmoglein 4

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:115,288,606...115,325,322
Ensembl chr 6:115,289,859...115,325,854

G

dystrobrevin alpha

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:118,333,069...118,753,516
Ensembl chr 6:118,333,733...118,753,512

G

dymeclin

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 1:98,642,506...99,024,664
Ensembl chr 1:98,638,339...99,024,642

G

elongator acetyltransferase complex subunit 2

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:119,885,409...119,932,126
Ensembl chr 6:119,885,463...119,932,123

G

ectopic P-granules 5 autophagy tethering factor

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 1:95,493,779...95,616,794
Ensembl chr 1:95,498,720...95,616,755

G

F-box protein 15

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:149,856,032...149,898,829
Ensembl chr 1:149,856,489...149,896,536

G

formin homology 2 domain containing 3

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:120,036,824...120,585,987
Ensembl chr 6:120,036,845...120,586,816

G

polypeptide N-acetylgalactosaminyltransferase 1

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:119,295,896...119,493,901
Ensembl chr 6:119,310,421...119,493,883

G

galanin receptor 1

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:147,442,977...147,466,731
Ensembl chr 1:147,443,821...147,463,542

G

GRB2 associated regulator of MAPK1 subtype 1

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:116,100,371...116,324,853
Ensembl chr 6:116,100,372...116,325,133

G

HAUS augmin like complex subunit 1

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 1:95,756,297...95,774,245
Ensembl chr 1:95,756,267...95,780,758

G

haloacid dehalogenase like hydrolase domain containing 2

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 1:96,682,632...96,729,510
Ensembl chr 1:96,671,793...96,729,441

G

histamine receptor H4

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:109,302,264...109,318,607
Ensembl chr 6:109,303,820...109,319,479

G

heat shock factor binding protein 1 like 1

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 6:127,960,330...127,972,241
Ensembl chr 6:127,960,266...127,973,191

G

immediate early response 3 interacting protein 1

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 1:96,740,718...96,763,875
Ensembl chr 1:96,740,584...96,763,838

G

impact RWD domain protein

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:109,235,590...109,272,801
Ensembl chr 6:109,235,585...109,272,793

G

INO80 complex subunit C

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:119,262,488...119,285,852
Ensembl chr 6:119,262,227...119,285,779

G

katanin catalytic subunit A1 like 2

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 1:96,566,852...96,676,184
Ensembl chr 1:96,566,848...96,676,519

G

potassium voltage-gated channel modifier subfamily G member 2

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 6:127,830,032...127,891,294
Ensembl chr 6:127,866,238...127,891,916

G

potassium channel tetramerization domain containing 1

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:111,048,193...111,237,868
Ensembl chr 6:111,048,202...111,148,703

G

3-ketodihydrosphingosine reductase

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:158,288,544...158,329,898
Ensembl chr 1:158,288,544...158,329,881

G

KIAA1328

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:120,670,317...121,035,937
Ensembl chr 6:120,670,342...121,035,931

G

kelch like family member 14

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:116,510,854...116,613,319
Ensembl chr 6:116,510,851...116,611,631

G

laminin subunit alpha 3

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:108,548,818...108,805,700
Ensembl chr 6:108,548,715...108,805,690

G

serpin B3-like

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:158,073,431...158,079,267

G

lipoxygenase homology PLAT domains 1

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 1:96,080,751...96,287,034
Ensembl chr 1:96,080,824...96,276,992

G

microtubule associated protein RP/EB family member 2

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:118,816,967...118,987,762
Ensembl chr 6:118,943,422...118,987,169

G

myelin basic protein

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:147,649,516...147,685,289
Ensembl chr 1:147,590,865...147,685,290

G

melanocortin 4 receptor

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 1:160,772,013...160,774,124
Ensembl chr 1:160,772,013...160,774,124

G

meprin A subunit beta

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:116,015,021...116,049,796
Ensembl chr 6:116,015,021...116,049,791

G

microRNA mir-187

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:119,674,881...119,674,958

G

molybdenum cofactor sulfurase

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:119,945,076...120,018,332
Ensembl chr 6:119,945,052...120,018,097

G

neuropilin and tolloid like 1

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:150,711,486...150,821,626
Ensembl chr 1:150,711,628...150,817,437

G

nuclear factor of activated T cells 1

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:145,940,099...146,002,897
Ensembl chr 1:145,911,046...146,008,139

G

nucleolar protein 4

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:117,631,631...118,088,026
Ensembl chr 6:117,631,227...118,087,992

G

oxysterol binding protein like 1A

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:108,997,730...109,241,950
Ensembl chr 6:108,997,735...109,221,010

G

par-6 family cell polarity regulator gamma

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 6:128,161,610...128,250,708
Ensembl chr 6:128,162,600...128,250,663

G

PH domain and leucine rich repeat protein phosphatase 1

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:158,642,810...158,863,643
Ensembl chr 1:158,642,818...158,862,106

G

protein inhibitor of activated STAT 2

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 1:96,401,635...96,545,798
Ensembl chr 1:96,441,676...96,545,780

G

phosphatidylinositol glycan anchor biosynthesis class N

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:159,317,734...159,417,335
Ensembl chr 1:159,317,734...159,417,327

G

phosphatidylinositol 3-kinase catalytic subunit type 3

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:125,890,598...126,038,753
Ensembl chr 6:125,890,712...126,043,157

G

proteasome 20S subunit alpha 8

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:110,799,065...110,836,937
Ensembl chr 6:110,799,283...110,837,255

G

proline-serine-threonine phosphatase interacting protein 2

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 1:95,631,456...95,727,827
Ensembl chr 1:95,631,456...95,727,782

G

prostaglandin reductase 3

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:148,987,197...148,995,138
Ensembl chr 1:148,987,518...148,997,954

G

ribosome binding factor A

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 6:128,030,397...128,048,061
Ensembl chr 6:128,030,723...128,053,494

G

RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:159,207,951...159,317,675
Ensembl chr 1:159,207,616...159,317,675

G

ring finger protein 125

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:115,857,697...115,905,550
Ensembl chr 6:115,857,721...115,903,677

G

ring finger protein 138

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:115,927,021...115,975,754
Ensembl chr 6:115,926,774...115,978,724

G

ring finger protein 152

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:159,529,879...159,606,031
Ensembl chr 1:159,530,623...159,601,981

G

regulation of nuclear pre-mRNA domain containing 1A

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:119,762,810...119,834,022
Ensembl chr 6:119,762,812...119,834,012

G

rotatin

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:152,688,305...152,833,969
Ensembl chr 1:152,689,504...152,833,946

G

spalt like transcription factor 3

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:146,251,591...146,273,778
Ensembl chr 1:146,252,155...146,273,906

G

serpin family B member 10

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:157,841,487...157,866,913
Ensembl chr 1:157,841,510...157,866,913

G

serpin family B member 11

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:158,015,714...158,030,833
Ensembl chr 1:158,015,718...158,030,763

G

serpin family B member 12

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:158,120,724...158,143,085
Ensembl chr 1:158,120,868...158,143,128

G

serpin family B member 13

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:158,099,811...158,113,526
Ensembl chr 1:158,099,975...158,113,501

G

serpin family B member 2

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:157,871,919...157,886,525
Ensembl chr 1:157,872,212...157,886,602

G

serpin family B member 5

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:158,167,756...158,195,896
Ensembl chr 1:158,167,646...158,195,796

G

serpin family B member 7

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:157,953,872...157,999,242
Ensembl chr 1:157,953,877...157,998,842

G

serpin family B member 8

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:157,820,641...157,836,922
Ensembl chr 1:157,820,657...157,836,904

G

SET binding protein 1

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 1:94,295,332...94,666,560
Ensembl chr 1:94,295,851...94,663,017

G

sialic acid binding Ig like lectin 15

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 1:95,475,108...95,492,675
Ensembl chr 1:95,475,438...95,492,709

G

SKI family transcriptional corepressor 2

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 1:96,795,362...96,842,360
Ensembl chr 1:96,803,098...96,844,492

G

solute carrier family 14 member 1

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 1:95,354,848...95,381,492
Ensembl chr 1:95,355,016...95,381,489

G

solute carrier family 14 member 2

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 1:94,838,955...95,322,748
Ensembl chr 1:95,255,632...95,320,542

G

solute carrier family 39 member 6

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:119,861,853...119,885,836
Ensembl chr 6:119,861,846...119,885,378

G

solute carrier family 66 member 2

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 6:127,894,111...127,952,268
Ensembl chr 6:127,894,111...127,952,225

G

SMAD family member 2

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 1:97,415,360...97,511,388
Ensembl chr 1:97,415,716...97,511,357

G

SMAD family member 7

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 1:98,512,800...98,543,924
Ensembl chr 1:98,514,267...98,542,382

G

suppressor of cytokine signaling 6

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:152,593,647...152,636,645
Ensembl chr 1:152,593,653...152,636,650

G

SS18 subunit of BAF chromatin remodeling complex

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:110,711,438...110,789,805
Ensembl chr 6:110,710,569...110,790,379

G

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 1:96,291,794...96,375,909
Ensembl chr 1:96,297,034...96,375,868

G

synaptotagmin 4

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:127,382,248...127,392,258
Ensembl chr 6:127,382,263...127,392,164

G

TATA-box binding protein associated factor 4b

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:110,855,636...110,972,798
Ensembl chr 6:110,855,636...110,971,994

G

translocase of inner mitochondrial membrane 21

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:149,845,189...149,855,903
Ensembl chr 1:149,845,199...149,855,908

G

thioredoxin related transmembrane protein 3

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:153,988,020...154,031,124
Ensembl chr 1:153,988,050...154,031,120

G

TNF receptor superfamily member 11a

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:159,128,039...159,187,476
Ensembl chr 1:159,128,038...159,187,481

G

tubulin polyglutamylase complex subunit 2

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:120,605,477...120,670,286
Ensembl chr 6:120,590,031...120,670,286

G

trafficking protein particle complex subunit 8

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:115,692,509...115,786,668
Ensembl chr 6:115,693,119...115,786,648

G

teashirt zinc finger homeobox 1

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:148,905,179...148,984,984
Ensembl chr 1:148,906,075...148,984,832

G

tetratricopeptide repeat domain 39C

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:108,859,792...108,968,236
Ensembl chr 6:108,860,324...108,968,678

G

transthyretin

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:115,496,338...115,503,974
Ensembl chr 6:115,496,326...115,503,977

G

thioredoxin like 4A

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 6:127,975,164...127,991,112
Ensembl chr 6:127,974,543...127,991,177

G

vacuolar protein sorting 4 homolog B

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:158,233,039...158,273,533
Ensembl chr 1:158,233,070...158,270,679

G

zinc finger and BTB domain containing 7C

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 1:97,610,293...98,015,158
Ensembl chr 1:97,610,694...98,015,089

G

zinc finger CCHC-type containing 2

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:158,964,816...159,022,143
Ensembl chr 1:158,964,819...159,022,271

G

zinc finger protein 236

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:147,690,545...147,782,162
Ensembl chr 1:147,690,556...147,782,129

G

zinc finger protein 24

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:119,156,507...119,167,240
Ensembl chr 6:119,160,530...119,167,187

G

zinc finger protein 396

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:119,184,995...119,193,334
Ensembl chr 6:119,187,106...119,193,296

G

zinc finger protein 397

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:119,076,683...119,144,643
Ensembl chr 6:119,076,714...119,086,759

G

zinc finger protein 407

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:149,090,502...149,517,494
Ensembl chr 1:149,090,789...149,516,790

G

zinc finger protein 516

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

PMID:25741868 PMID:31690835

NCBI chr 1:147,987,660...148,100,788
Ensembl chr 1:147,984,481...148,087,719

G

zinc finger protein 521

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:109,833,610...110,122,920
Ensembl chr 6:109,833,614...110,124,798

G

zinc finger and SCAN domain containing 30

ClinVar Annotator: match by term: Monosomy 18q, deletion 18q

NCBI chr 6:119,088,184...119,116,257
Ensembl chr 6:119,088,184...119,116,270

chromosome 19q13.11 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ubiquitin like modifier activating enzyme 2

ClinVar Annotator: match by term: Chromosome 19q13.11 deletion syndrome, distal

NCBI chr 6:44,103,150...44,141,396

chromosome 1p36 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arylacetamide deacetylase like 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:72,680,294...72,686,004
Ensembl chr 6:72,680,291...72,687,005

G

arylacetamide deacetylase like 4

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:72,635,281...72,650,538
Ensembl chr 6:72,635,281...72,650,729

G

ArfGAP with coiled-coil, ankyrin repeat and PH domains 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,579,291...63,593,429
Ensembl chr 6:63,579,304...63,593,435

G

acyl-CoA thioesterase 7

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:67,152,428...67,254,097
Ensembl chr 6:67,152,429...67,254,103

G

actin like 8

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:76,354,695...76,358,917
Ensembl chr 6:76,286,086...76,358,782

G

actin related protein T2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:64,664,484...64,665,774
Ensembl chr 6:64,664,641...64,665,774

G

agmatinase (putative)

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:74,773,359...74,784,486
Ensembl chr 6:74,773,324...74,784,457

G

agrin

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,366,017...63,398,311
Ensembl chr 6:63,365,983...63,398,309

G

angiotensin II receptor associated protein

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:71,825,319...71,836,812

G

adherens junctions associated protein 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:65,847,985...65,952,377
Ensembl chr 6:65,847,984...65,951,738

G

aldo-keto reductase family 7 member A2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:77,754,172...77,761,609
Ensembl chr 6:77,754,174...77,761,667

G

aldehyde dehydrogenase 4 family member A1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:77,373,999...77,404,015
Ensembl chr 6:77,374,002...77,404,036

G

angiopoietin like 7

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:71,350,872...71,356,299
Ensembl chr 6:71,350,033...71,356,662

G

ankyrin repeat domain 65

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,678,757...63,686,409

G

apoptosis-inducing, TAF9-like domain 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:70,700,802...70,711,719
Ensembl chr 6:70,701,694...70,711,717

G

Rho guanine nucleotide exchange factor 10 like

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:76,064,212...76,229,310
Ensembl chr 6:76,083,725...76,229,307

G

Rho guanine nucleotide exchange factor 16

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:65,026,490...65,048,545
Ensembl chr 6:65,027,442...65,048,542

G

Rho guanine nucleotide exchange factor 19

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:75,317,811...75,335,292
Ensembl chr 6:75,317,823...75,335,270

G

ATPase cation transporting 13A2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:75,618,317...75,638,591
Ensembl chr 6:75,618,319...75,638,591

G

aurora kinase A interacting protein 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,656,120...63,657,568
Ensembl chr 6:63,656,119...63,657,472

G

beta-1,3-galactosyltransferase 6

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,540,066...63,541,962
Ensembl chr 6:63,540,141...63,541,112

G

C1q and TNF related 12

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,548,862...63,555,991
Ensembl chr 6:63,548,864...63,553,332

G

chromosome 6 C1orf174 homolog

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:65,326,980...65,333,891
Ensembl chr 6:65,323,756...65,333,886

G

carbonic anhydrase 6

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:69,447,662...69,468,819
Ensembl chr 6:69,447,439...69,468,821

G

calmodulin like 6

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,970,359...63,971,973

G

calmodulin binding transcription activator 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:67,605,863...68,471,922
Ensembl chr 6:67,605,790...68,471,920

G

capping actin protein of muscle Z-line subunit beta

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:77,780,682...77,912,653
Ensembl chr 6:77,780,682...77,912,617

G

caspase 9

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:74,707,597...74,730,033
Ensembl chr 6:74,706,516...74,730,007

G

castor zinc finger 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:70,876,329...71,029,495
Ensembl chr 6:70,878,983...70,933,357

G

coiled-coil domain containing 27

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:65,242,725...65,254,879
Ensembl chr 6:65,242,602...65,255,727

G

cyclin L2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,659,053...63,668,077
Ensembl chr 6:63,659,054...63,668,047

G

cyclin dependent kinase 11

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,804,914...63,819,960

G

chymotrypsin-like elastase family, member 2A

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:74,691,653...74,707,598
Ensembl chr 6:74,691,653...74,707,598

G

centrosomal protein 104

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:65,274,092...65,310,735
Ensembl chr 6:65,274,488...65,310,669

G

cilia and flagella associated protein 107

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:72,705,426...72,717,408
Ensembl chr 6:72,705,399...72,718,232

G

cilia and flagella associated protein 74

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,976,011...64,038,899
Ensembl chr 6:63,976,346...64,024,562

G

chromodomain helicase DNA binding protein 5

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:67,017,410...67,086,685
Ensembl chr 6:67,017,417...67,086,711

G

chloride voltage-gated channel 6

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:71,881,912...71,915,016
Ensembl chr 6:71,881,972...71,916,029

G

chloride voltage-gated channel K

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:75,178,914...75,192,670

G

calsyntenin 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:70,086,245...70,165,240
Ensembl chr 6:70,086,247...70,165,174

G

cortistatin

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:70,716,630...70,717,980
Ensembl chr 6:70,716,386...70,718,032

G

ciliogenesis and planar polarity effector complex subunit 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:75,345,153...75,350,544
Ensembl chr 6:75,345,259...75,349,943

G

ceramide-1-phosphate transfer protein

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,607,991...63,612,325

G

ciliary rootlet coiled-coil, rootletin

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:75,558,558...75,606,305
Ensembl chr 6:75,559,105...75,606,299

G

catenin beta interacting protein 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:70,184,935...70,241,560
Ensembl chr 6:70,184,936...70,241,477

G

chymotrypsin C

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:74,674,836...74,681,311
Ensembl chr 6:74,674,836...74,681,309

G

DNA fragmentation factor subunit alpha

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:70,725,403...70,736,264
Ensembl chr 6:70,724,590...70,736,236

G

DNA fragmentation factor subunit beta

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:65,310,868...65,323,816
Ensembl chr 6:65,310,864...65,323,806

G

dehydrogenase/reductase 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:72,556,234...72,599,233
Ensembl chr 6:72,556,236...72,598,815

G

dispatched RND transporter family member 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:71,583,818...71,640,945
Ensembl chr 6:71,583,818...71,640,940

G

DnaJ heat shock protein family (Hsp40) member C11

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:67,463,366...67,529,958
Ensembl chr 6:67,463,374...67,529,930

G

DnaJ heat shock protein family (Hsp40) member C16

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:74,732,130...74,771,404
Ensembl chr 6:74,732,169...74,774,311

G

dorsal inhibitory axon guidance protein

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:71,786,806...71,814,946
Ensembl chr 6:71,786,800...71,814,679

G

dishevelled segment polarity protein 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,617,787...63,628,965
Ensembl chr 6:63,617,789...63,628,913

G

EF-hand domain family member D2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:74,651,814...74,668,352
Ensembl chr 6:74,651,809...74,668,409

G

ER membrane protein complex subunit 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:77,723,374...77,747,780
Ensembl chr 6:77,718,849...77,747,771

G

enolase 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:69,385,879...69,401,664
Ensembl chr 6:69,385,879...69,401,151

G

EPH receptor A2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:75,251,465...75,279,364
Ensembl chr 6:75,251,467...75,279,314

G

ERBB receptor feedback inhibitor 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:68,667,651...68,682,629
Ensembl chr 6:68,669,153...68,682,623

G

espin

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:67,284,106...67,316,577
Ensembl chr 6:67,284,079...67,316,591

G

exosome component 10

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:71,258,988...71,282,802
Ensembl chr 6:71,258,999...71,282,433

G

FA core complex associated protein 20

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:64,160,760...64,169,663

G

family with sequence similarity 131 member C

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:75,193,397...75,213,081
Ensembl chr 6:75,193,399...75,212,154

G

filamin binding LIM protein 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:74,929,830...74,964,166
Ensembl chr 6:74,929,932...74,966,942

G

F-box protein 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:71,740,647...71,747,265
Ensembl chr 6:71,740,677...71,748,923

G

F-box protein 42

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:75,365,130...75,446,121
Ensembl chr 6:75,364,450...75,446,085

G

F-box protein 44

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:71,747,210...71,754,519
Ensembl chr 6:71,743,261...71,774,223

G

F-box protein 6

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:71,755,335...71,774,264
Ensembl chr 6:71,768,498...71,774,243

G

forkhead associated phosphopeptide binding domain 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:74,505,763...74,641,474
Ensembl chr 6:74,508,097...74,642,013

G

fibronectin type III domain containing 10

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,762,059...63,765,483
Ensembl chr 6:63,764,815...63,765,483

G

gamma-aminobutyric acid type A receptor subunit delta

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:64,049,665...64,059,644
Ensembl chr 6:64,049,675...64,059,640

G

G protein subunit beta 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,867,155...63,957,514
Ensembl chr 6:63,867,158...63,952,505

G

G protein-coupled receptor 153

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:67,136,992...67,149,319
Ensembl chr 6:67,138,961...67,145,516

G

G protein-coupled receptor 157

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:69,558,940...69,581,656
Ensembl chr 6:69,557,701...69,581,643

G

hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:69,666,348...69,700,303
Ensembl chr 6:69,666,601...69,700,298

G

hes family bHLH transcription factor 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:67,276,774...67,279,617
Ensembl chr 6:67,276,777...67,279,603

G

hes family bHLH transcription factor 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:67,134,259...67,138,639
Ensembl chr 6:67,133,482...67,135,292

G

hes family bHLH transcription factor 4

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,351,593...63,356,690
Ensembl chr 6:63,351,602...63,356,466

G

hes family bHLH transcription factor 5

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:64,409,110...64,410,541
Ensembl chr 6:64,408,956...64,410,881

G

heat shock protein family B (small) member 7

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:75,171,507...75,174,918
Ensembl chr 6:75,166,992...75,175,013

G

5-hydroxytryptamine receptor 6

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:78,077,358...78,092,211

G

isoprenylcysteine carboxyl methyltransferase

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:67,116,943...67,125,908
Ensembl chr 6:67,116,946...67,123,810

G

intermediate filament family orphan 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:77,406,367...77,458,234
Ensembl chr 6:77,406,372...77,456,229

G

immunoglobin superfamily member 21

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:76,688,238...76,947,296
Ensembl chr 6:76,688,278...76,947,293

G

integrator complex subunit 11

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,596,809...63,607,915
Ensembl chr 6:63,596,803...63,607,921

G

ISG15 ubiquitin like modifier

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,363,201...63,364,211
Ensembl chr 6:63,363,173...63,364,208

G

kazrin, periplakin interacting protein

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:73,297,134...74,402,794
Ensembl chr 6:74,236,437...74,378,956

G

potassium voltage-gated channel subfamily A regulatory beta subunit 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:66,928,374...67,016,846
Ensembl chr 6:66,928,381...67,016,845

G

KIAA2013

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:71,976,011...71,981,674
Ensembl chr 6:71,976,019...71,981,673

G

kinesin family member 1B

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:70,495,143...70,663,464
Ensembl chr 6:70,495,144...70,661,798

G

kelch domain containing 7A

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:77,022,168...77,030,776
Ensembl chr 6:77,023,865...77,026,255

G

kelch like family member 17

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,320,898...63,328,093
Ensembl chr 6:63,322,184...63,328,259

G

kelch like family member 21

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:67,420,618...67,434,812
Ensembl chr 6:67,420,622...67,434,812

G

60S ribosomal protein L22 pseudogene

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:8,249,002...8,249,496

G

PRAME family member 12-like

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:72,765,442...72,768,567

G

ATPase family AAA domain-containing protein 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,706,155...63,721,574
Ensembl chr 6:63,701,460...63,721,573

G

MORN repeat-containing protein 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:64,266,184...64,300,980
Ensembl chr 6:64,253,268...64,300,897

G

uncharacterized protein C1orf167

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:71,849,204...71,866,887

G

leucine rich repeat containing 38

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:72,930,084...72,965,438
Ensembl chr 6:72,934,777...72,961,187

G

leucine rich repeat containing 47

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:65,261,990...65,271,745
Ensembl chr 6:65,260,793...65,271,729

G

leucine zipper and CTNNBIP1 domain containing

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:70,261,447...70,271,710
Ensembl chr 6:70,259,151...70,271,955

G

mitotic arrest deficient 2 like 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:71,773,680...71,779,192
Ensembl chr 6:71,773,154...71,786,517

G

MBL associated serine protease 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:71,224,637...71,243,041
Ensembl chr 6:71,224,637...71,243,874

G

multiple EGF like domains 6

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:65,055,533...65,141,449
Ensembl chr 6:65,053,389...65,141,380

G

microfibril associated protein 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:75,607,515...75,615,680
Ensembl chr 6:75,607,521...75,615,641

G

mitofusin 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438

G

MIB E3 ubiquitin protein ligase 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,787,200...63,800,425
Ensembl chr 6:63,787,201...63,800,423

G

mitochondrial contact site and cristae organizing system subunit 10

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:78,011,486...78,045,919

G

migration and invasion inhibitory protein

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:72,064,634...72,074,981
Ensembl chr 6:72,064,662...72,076,275

G

membrane metalloendopeptidase like 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:64,436,778...64,470,888
Ensembl chr 6:64,436,642...64,472,759

G

matrix metallopeptidase 23

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,801,668...63,804,275
Ensembl chr 6:63,801,965...63,805,046

G

mitochondrial ribosomal protein L20

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,670,750...63,675,834
Ensembl chr 6:63,670,755...63,675,839

G

MRT4 homolog, ribosome maturation factor

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:77,747,799...77,753,924
Ensembl chr 6:77,747,819...77,754,864

G

methylenetetrahydrofolate reductase

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820

G

mechanistic target of rapamycin kinase

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888

G

matrix remodeling associated 8

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,630,936...63,635,623
Ensembl chr 6:63,630,938...63,635,456

G

NAD kinase

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,846,650...63,864,137
Ensembl chr 6:63,846,655...63,863,946

G

NBL1, DAN family BMP antagonist

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:78,046,084...78,071,609
Ensembl chr 6:78,059,392...78,071,604

G

NECAP endocytosis associated 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:75,527,071...75,543,187
Ensembl chr 6:75,527,108...75,546,843

G

nicotinamide nucleotide adenylyltransferase 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:70,271,296...70,307,403
Ensembl chr 6:70,272,014...70,310,707

G

NOC2 like nucleolar associated transcriptional repressor

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,307,703...63,320,799
Ensembl chr 6:63,307,695...63,335,201

G

nucleolar protein 9

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:67,375,212...67,396,442
Ensembl chr 6:67,375,196...67,396,430

G

nephrocystin 4

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:66,815,282...66,928,245
Ensembl chr 6:66,815,281...66,928,146

G

natriuretic peptide A

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:71,919,557...71,921,345
Ensembl chr 6:71,918,845...71,921,405

G

natriuretic peptide B

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,930,382...71,932,254

G

OTU deubiquitinase 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:78,241,604...78,273,544
Ensembl chr 6:78,241,624...78,273,539

G

peptidyl arginine deiminase 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:75,830,053...75,871,929
Ensembl chr 6:75,830,046...75,871,911

G

peptidyl arginine deiminase 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:75,696,476...75,755,977
Ensembl chr 6:75,696,481...75,755,890

G

peptidyl arginine deiminase 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:75,874,219...75,910,213
Ensembl chr 6:75,874,229...75,909,509

G

peptidyl arginine deiminase 4

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:75,935,909...75,966,275
Ensembl chr 6:75,935,889...75,966,293

G

peptidyl arginine deiminase 6

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:75,969,855...75,987,097
Ensembl chr 6:75,969,958...75,987,093

G

pantothenate kinase 4 (inactive)

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:64,393,092...64,407,443
Ensembl chr 6:64,393,102...64,407,448

G

Parkinsonism associated deglycase

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:68,629,327...68,645,147
Ensembl chr 6:68,629,214...68,645,516

G

paired box 7

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:77,160,827...77,268,626
Ensembl chr 6:77,161,097...77,267,415

G

podoplanin

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:73,019,063...73,050,000
Ensembl chr 6:73,019,057...73,049,996

G

period circadian regulator 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:68,487,634...68,548,718

G

PPARGC1 and ESRR induced regulator, muscle 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,336,116...63,341,747
Ensembl chr 6:63,308,187...63,341,843

G

peroxisomal biogenesis factor 10

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:64,311,743...64,317,693

G

peroxisomal biogenesis factor 14

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:70,737,871...70,872,074
Ensembl chr 6:70,737,905...70,872,072

G

phosphogluconate dehydrogenase

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:70,675,751...70,692,697
Ensembl chr 6:70,675,815...70,692,679

G

PHD finger protein 13

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:67,445,960...67,452,144
Ensembl chr 6:67,445,978...67,454,189

G

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

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:70,026,254...70,086,950
Ensembl chr 6:70,026,373...70,084,742

G

phospholipase A2 group IIA

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:78,327,728...78,339,546
Ensembl chr 6:78,327,319...78,330,699

G

phospholipase A2 group IIC

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:78,433,168...78,446,562

G

phospholipase A2 group IID

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:78,391,063...78,397,394
Ensembl chr 6:78,391,066...78,397,515

G

phospholipase A2 group IIE

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:78,278,080...78,282,253
Ensembl chr 6:78,278,284...78,282,377

G

phospholipase A2 group IIF

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:78,413,459...78,423,311
Ensembl chr 6:78,413,459...78,423,309

G

phospholipase A2 group V

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:78,365,697...78,376,383
Ensembl chr 6:78,302,062...78,376,220

G

phospholipase C eta 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:64,325,918...64,392,070
Ensembl chr 6:64,325,952...64,392,068

G

pleckstrin homology and RhoGEF domain containing G5

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:67,316,818...67,373,787
Ensembl chr 6:67,321,534...67,362,838

G

pleckstrin homology and RUN domain containing M2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:74,865,116...74,907,769
Ensembl chr 6:74,864,968...74,907,766

G

pleckstrin homology domain containing N1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,328,054...63,336,140
Ensembl chr 6:63,328,605...63,336,138

G

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:71,987,938...72,019,712
Ensembl chr 6:71,988,459...72,021,804

G

PR/SET domain 16

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:64,704,181...65,012,580
Ensembl chr 6:64,704,920...65,012,570

G

PR/SET domain 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:73,135,872...73,240,271
Ensembl chr 6:73,118,177...73,239,423

G

protein kinase C zeta

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:64,073,343...64,159,187
Ensembl chr 6:64,068,577...64,163,472

G

peroxiredoxin like 2B

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:64,432,187...64,435,328
Ensembl chr 6:64,432,148...64,435,320

G

pseudouridine synthase like 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,593,539...63,596,921
Ensembl chr 6:63,593,959...63,599,019

G

retinol binding protein 7

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:70,313,316...70,326,407
Ensembl chr 6:70,313,309...70,326,455

G

regulator of chromosome condensation 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:75,988,271...76,014,200
Ensembl chr 6:75,988,272...76,014,160

G

retention in endoplasmic reticulum sorting receptor 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:64,301,139...64,311,526
Ensembl chr 6:64,301,199...64,311,783

G

arginine-glutamic acid dipeptide repeats

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:68,954,766...69,258,855

G

ring finger protein 186

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:78,195,692...78,199,058
Ensembl chr 6:78,192,337...78,198,597

G

ring finger protein 207

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:67,105,347...67,119,167
Ensembl chr 6:67,106,552...67,116,510

G

ring finger protein 223

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,413,080...63,445,277
Ensembl chr 6:63,413,086...63,414,357

G

regulator of solute carriers 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:268,428,423...268,429,766
NCBI chr 6:74,846,976...74,865,376
Ensembl chr 6:74,809,350...74,855,423

G

sterile alpha motif domain containing 11

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,287,449...63,308,231
Ensembl chr 6:63,287,713...63,308,482

G

sodium channel epithelial 1 subunit delta

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,568,171...63,578,623

G

stromal cell derived factor 4

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,529,853...63,539,979
Ensembl chr 6:63,529,853...63,544,944

G

succinate dehydrogenase complex iron sulfur subunit B

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:75,648,362...75,678,111
Ensembl chr 6:75,648,215...75,678,378

G

SKI proto-oncogene

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:64,188,265...64,242,596
Ensembl chr 6:64,188,236...64,242,560

G

solute carrier family 25 member 33

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:69,934,810...69,969,091
Ensembl chr 6:69,934,834...69,969,084

G

solute carrier family 25 member 34

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:74,909,637...74,914,430
Ensembl chr 6:74,909,705...74,914,426

G

solute carrier family 2 member 5

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:69,507,829...69,535,794
Ensembl chr 6:69,507,830...69,535,371

G

solute carrier family 2 member 7

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:69,483,736...69,503,758
Ensembl chr 6:69,484,227...69,503,732

G

solute carrier family 35 member E2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,820,804...63,842,400
Ensembl chr 6:63,820,812...63,835,561

G

solute carrier family 45 member 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:68,933,918...68,950,534
Ensembl chr 6:68,933,912...68,950,530

G

solute carrier family 66 member 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:77,761,861...77,778,570
Ensembl chr 6:77,761,782...77,778,571

G

small integral membrane protein 1 (Vel blood group)

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:65,255,792...65,259,129
Ensembl chr 6:65,255,823...65,259,126

G

spermatogenesis associated 21

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:75,485,728...75,527,175
Ensembl chr 6:75,485,870...75,513,996

G

spen family transcriptional repressor

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:75,015,565...75,107,468
Ensembl chr 6:75,015,521...75,107,033

G

splA/ryanodine receptor domain and SOCS box containing 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:69,720,538...69,789,566
Ensembl chr 6:69,720,806...69,791,119

G

steroid receptor associated and regulated protein

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:75,159,923...75,162,822
Ensembl chr 6:75,160,374...75,162,820

G

spermidine synthase

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:71,246,895...71,253,534
Ensembl chr 6:71,246,876...71,253,508

G

SSU72 homolog, RNA polymerase II CTD phosphatase

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,728,318...63,757,460
Ensembl chr 6:63,728,325...63,755,163

G

SUZ RNA binding domain containing 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:75,459,124...75,485,326
Ensembl chr 6:75,459,138...75,485,324

G

TAR DNA binding protein

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:71,213,584...71,227,707
Ensembl chr 6:71,213,860...71,227,704

G

taste 1 receptor member 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:67,396,471...67,410,236
Ensembl chr 6:67,396,856...67,410,638

G

taste 1 receptor member 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:77,350,426...77,365,552
Ensembl chr 6:77,350,457...77,364,843

G

taste 1 receptor member 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,613,536...63,617,831
Ensembl chr 6:63,607,990...63,617,809

G

THAP domain containing 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:67,452,272...67,463,400
Ensembl chr 6:67,455,277...67,463,399

G

transmembrane and coiled-coil domains 4

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:78,093,653...78,179,078
Ensembl chr 6:78,093,664...78,179,071

G

transmembrane protein 201

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:69,973,378...69,998,548
Ensembl chr 6:69,973,397...69,998,544

G

transmembrane protein 240

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,721,655...63,727,457
Ensembl chr 6:63,721,656...63,727,526

G

transmembrane protein 51

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:74,433,612...74,486,784
Ensembl chr 6:74,434,050...74,486,780

G

transmembrane protein 52

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,969,438...63,974,312
Ensembl chr 6:63,969,440...63,974,286

G

transmembrane protein 82

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:74,915,328...74,920,128
Ensembl chr 6:74,915,707...74,920,121

G

transmembrane protein 88B

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,686,542...63,689,298
Ensembl chr 6:63,686,546...63,688,456

G

TNF receptor superfamily member 18

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,516,037...63,519,323
Ensembl chr 6:63,516,045...63,518,405

G

TNF receptor superfamily member 1B

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147

G

TNF receptor superfamily member 25

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:67,316,818...67,321,442
Ensembl chr 6:67,316,825...67,321,442

G

TNF receptor superfamily member 4

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,523,850...63,526,672
Ensembl chr 6:63,523,804...63,526,666

G

TNF receptor superfamily member 8

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:72,103,309...72,174,882

G

TNF receptor superfamily member 9

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:68,590,562...68,609,784
Ensembl chr 6:68,590,360...68,609,695

G

tumor protein p73

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:65,169,770...65,228,997
Ensembl chr 6:65,182,456...65,228,990

G

tumor protein p63 regulated 1 like

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:65,150,897...65,154,311
Ensembl chr 6:65,150,903...65,154,429

G

tetratricopeptide repeat domain 34

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:64,478,117...64,499,034
Ensembl chr 6:64,478,408...64,499,986

G

tubulin tyrosine ligase like 10

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,494,759...63,513,884
Ensembl chr 6:63,497,597...63,511,918

G

ubiquitin conjugating enzyme E2 J2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,556,134...63,568,080
Ensembl chr 6:63,555,488...63,568,017

G

ubiquitination factor E4B

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:70,345,789...70,462,434
Ensembl chr 6:70,345,813...70,462,434

G

UbiA prenyltransferase domain containing 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:71,419,559...71,431,275
Ensembl chr 6:71,419,602...71,433,210

G

ubiquitin protein ligase E3 component n-recognin 4

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:77,568,409...77,707,991
Ensembl chr 6:77,568,415...77,708,109

G

UBX domain protein 10

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:78,455,427...78,464,125
Ensembl chr 6:78,456,983...78,465,771

G

urotensin 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:68,552,889...68,560,827
Ensembl chr 6:68,552,887...68,559,674

G

vesicle associated membrane protein 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:68,473,921...68,482,438

G

vacuolar protein sorting 13 homolog D

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:72,256,865...72,514,256
Ensembl chr 6:72,256,828...72,510,058

G

von Willebrand factor A domain containing 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:63,695,195...63,700,296
Ensembl chr 6:63,694,979...63,700,287

G

WD repeat containing, antisense to TP73

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:65,155,201...65,167,091
Ensembl chr 6:65,155,209...65,167,079

G

zinc finger and BTB domain containing 17

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:75,108,728...75,144,103
Ensembl chr 6:75,107,427...75,144,069

G

zinc finger and BTB domain containing 48

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 6:67,410,558...67,418,295
Ensembl chr 6:67,410,574...67,418,293

chromosome 1q21.1 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acid phosphatase 6, lysophosphatidic

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

NCBI chr 4:99,930,343...99,948,056
Ensembl chr 4:99,930,345...99,968,412

G

BCL9 transcription coactivator

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

NCBI chr 4:99,970,388...100,058,291
Ensembl chr 4:99,970,394...100,058,164

G

chromodomain helicase DNA binding protein 1 like

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

NCBI chr 4:100,264,963...100,425,728
Ensembl chr 4:100,264,968...100,425,692

G

flavin containing dimethylaniline monoxygenase 5

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

NCBI chr 4:100,336,769...100,372,744
Ensembl chr 4:100,336,980...100,374,367

G

gap junction protein alpha 5

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

PMID:25741868 PMID:28492532

NCBI chr 4:99,854,129...99,871,288
Ensembl chr 4:99,854,392...99,871,286

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

NCBI chr 4:99,721,754...99,724,943
Ensembl chr 4:99,723,341...99,724,672

G

Golgi pH regulator

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

NCBI chr 4:99,654,852...99,712,244

G

protein kinase AMP-activated non-catalytic subunit beta 2

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

NCBI chr 4:100,378,047...100,394,346
Ensembl chr 4:100,378,071...100,394,338

chromosome 1q41-q42 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p53 binding protein 2

OMIM:612530

NCBI chr10:19,823,932...19,889,883
Ensembl chr10:19,823,936...19,889,869

chromosome 22q11.2 deletion syndrome, distal

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 3

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr 3:39,689,133...39,732,466
Ensembl chr 3:39,698,895...39,732,978

G

apoptosis inducing factor mitochondria associated 3

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:50,562,611...50,576,273
Ensembl chr14:50,562,776...50,576,275

G

ARVCF delta catenin family member

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:51,403,215...51,440,036
Ensembl chr14:51,403,923...51,440,058

G

BCR activator of RhoGEF and GTPase

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:25741868 PMID:38177409

NCBI chr14:49,208,662...49,322,109
Ensembl chr14:49,208,762...49,322,103

G

chromosome 14 C22orf39 homolog

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:51,106,984...51,112,385
Ensembl chr14:51,106,991...51,112,359

G

coiled-coil domain containing 116

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409

NCBI chr14:50,255,859...50,260,743

G

coiled-coil domain containing 188

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:51,517,669...51,520,622
Ensembl chr14:51,517,234...51,520,622

G

cell division cycle 45

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606

G

claudin 5

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:51,161,490...51,162,382
Ensembl chr14:51,161,042...51,163,482

G

catechol-O-methyltransferase

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998

G

CRK like proto-oncogene, adaptor protein

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:50,528,950...50,558,664
Ensembl chr14:50,528,955...50,558,662

G

DiGeorge syndrome critical region gene 2

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:50,881,260...50,935,603
Ensembl chr14:50,877,872...50,935,564

G

DiGeorge syndrome critical region gene 6 like

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:51,644,840...51,657,368

G

DGCR8 microprocessor complex subunit

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:51,473,512...51,489,535
Ensembl chr14:51,469,178...51,489,529

G

ess-2 splicing factor homolog

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:50,945,121...50,956,018
Ensembl chr14:50,945,122...50,955,983

G

gamma-glutamyltransferase 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:49,618,737...49,638,054

G

G protein subunit alpha z

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:25741868 PMID:38177409

NCBI chr14:49,132,012...49,174,114
Ensembl chr14:49,132,013...49,174,108

G

G protein subunit beta 1 like

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:51,306,561...51,343,040
Ensembl chr14:51,305,039...51,343,029

G

glycoprotein Ib platelet subunit beta

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114

G

goosecoid homeobox 2

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:50,956,315...50,960,424
Ensembl chr14:50,957,991...50,960,193

G

HIC ZBTB transcriptional repressor 2

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:25741868 PMID:38177409

NCBI chr14:50,347,575...50,373,007
Ensembl chr14:50,365,851...50,368,634

G

histone cell cycle regulator

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:51,029,117...51,102,409
Ensembl chr14:51,029,126...51,102,409

G

kelch like family member 22

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:50,773,917...50,809,991
Ensembl chr14:50,773,964...50,809,986

G

RIMS-binding protein 3A

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409

NCBI chr14:50,323,037...50,331,111

G

immunoglobulin lambda-like polypeptide 5

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:25741868 PMID:38177409

NCBI chr14:49,951,542...49,960,517

G

zinc finger protein 280A-like

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409

NCBI chr14:48,882,955...48,888,138

G

leucine rich repeat containing 74B

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:50,602,524...50,623,367
Ensembl chr14:50,602,701...50,623,116

G

leucine zipper like post translational regulator 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397

G

mitogen-activated protein kinase 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409

NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513

G

mediator complex subunit 15

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:50,703,010...50,759,310
Ensembl chr14:50,703,019...50,759,310

G

microRNA mir-1306

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:51,473,918...51,473,997
Ensembl chr14:51,473,918...51,473,997

G

microRNA mir-185

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:51,449,903...51,449,978
Ensembl chr14:51,449,903...51,449,978

G

mitochondrial ribosomal protein L40

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:51,102,900...51,105,769
Ensembl chr14:51,102,613...51,105,767

G

purinergic receptor P2X 6

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:50,595,876...50,633,536
Ensembl chr14:50,622,938...50,633,535

G

phosphatidylinositol 4-kinase alpha

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:50,390,416...50,491,983
Ensembl chr14:50,390,410...50,491,944

G

peptidylprolyl isomerase like 2

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409

NCBI chr14:50,206,807...50,232,845
Ensembl chr14:50,208,374...50,232,830

G

protein phosphatase, Mg2+/Mn2+ dependent 1F

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409

NCBI chr14:50,040,612...50,083,047
Ensembl chr14:50,040,663...50,063,325

G

PRAME nuclear receptor transcriptional regulator

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409

NCBI chr14:48,901,097...48,906,855
Ensembl chr14:48,899,343...48,911,231

G

RAB36, member RAS oncogene family

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:25741868 PMID:38177409

NCBI chr14:49,186,282...49,202,334
Ensembl chr14:49,188,360...49,204,656

G

RAN binding protein 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:51,494,258...51,500,420
Ensembl chr14:51,494,359...51,500,417

G

radial spoke head 14 homolog

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:25741868 PMID:38177409

NCBI chr14:49,123,934...49,186,157
Ensembl chr14:49,123,935...49,184,735

G

retrotransposon Gag like 10

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:51,338,134...51,342,383

G

reticulon 4 receptor

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:51,579,043...51,603,180
Ensembl chr14:51,579,046...51,602,968

G

scavenger receptor class F member 2

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:50,813,161...50,824,434
Ensembl chr14:50,812,984...50,824,521

G

stromal cell derived factor 2 like 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409

NCBI chr14:50,249,607...50,251,636
Ensembl chr14:50,246,710...50,251,642

G

septin 5

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:51,252,815...51,260,851
Ensembl chr14:51,252,815...51,261,244

G

serpin family D member 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:50,427,121...50,436,470
Ensembl chr14:50,427,115...50,436,468

G

solute carrier family 25 member 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:50,974,616...51,002,970
Ensembl chr14:50,974,617...50,978,039

G

solute carrier family 7 member 4

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:50,631,693...50,638,381
Ensembl chr14:50,633,878...50,637,404

G

synaptosome associated protein 29

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:50,492,187...50,511,475
Ensembl chr14:50,492,187...50,511,456

G

transport and golgi organization 2 homolog

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:51,443,597...51,464,370
Ensembl chr14:51,443,638...51,464,367

G

T-box transcription factor 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725

G

THAP domain containing 7

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:50,591,412...50,593,778
Ensembl chr14:50,591,410...50,594,105

G

transmembrane protein 191C

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409

NCBI chr14:50,378,957...50,383,573

G

DNA topoisomerase III beta

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409

NCBI chr14:50,020,412...50,037,854
Ensembl chr14:50,020,509...50,037,856

G

tRNA methyltransferase 2 homolog A

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:51,489,889...51,494,204
Ensembl chr14:51,489,892...51,494,190

G

testis specific serine kinase 2

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:50,943,017...50,944,093
Ensembl chr14:50,943,017...50,944,093

G

thioredoxin reductase 2

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:51,355,731...51,385,096
Ensembl chr14:51,356,831...51,383,262

G

ubiquitin conjugating enzyme E2 L3

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409

NCBI chr14:50,265,102...50,315,409

G

ubiquitin recognition factor in ER associated degradation 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:51,113,858...51,132,820
Ensembl chr14:51,113,713...51,133,072

G

V-set pre-B cell surrogate light chain 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409

NCBI chr14:49,972,058...49,972,768
Ensembl chr14:49,970,340...49,972,741

G

YdjC chitooligosaccharide deacetylase homolog

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409

NCBI chr14:50,260,813...50,262,553
Ensembl chr14:50,260,788...50,262,550

G

yippee like 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409

NCBI chr14:50,190,641...50,208,732
Ensembl chr14:50,190,798...50,208,256

G

zinc finger DHHC-type palmitoyltransferase 8

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:51,503,074...51,517,577
Ensembl chr14:51,503,114...51,516,885

G

zinc finger protein 74

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr14:50,840,500...50,869,945
Ensembl chr14:50,840,510...50,869,489

chromosome 22q11.2 microduplication syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apoptosis inducing factor mitochondria associated 3

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:50,562,611...50,576,273
Ensembl chr14:50,562,776...50,576,275

G

ARVCF delta catenin family member

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:51,403,215...51,440,036
Ensembl chr14:51,403,923...51,440,058

G

chromosome 14 C22orf39 homolog

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:51,106,984...51,112,385
Ensembl chr14:51,106,991...51,112,359

G

coiled-coil domain containing 188

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:51,517,669...51,520,622
Ensembl chr14:51,517,234...51,520,622

G

cell division cycle 45

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606

G

claudin 5

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:51,161,490...51,162,382
Ensembl chr14:51,161,042...51,163,482

G

catechol-O-methyltransferase

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998

G

CRK like proto-oncogene, adaptor protein

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:50,528,950...50,558,664
Ensembl chr14:50,528,955...50,558,662

G

DiGeorge syndrome critical region gene 2

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:50,881,260...50,935,603
Ensembl chr14:50,877,872...50,935,564

G

DiGeorge syndrome critical region gene 6 like

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:51,644,840...51,657,368

G

DGCR8 microprocessor complex subunit

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:51,473,512...51,489,535
Ensembl chr14:51,469,178...51,489,529

G

ess-2 splicing factor homolog

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:50,945,121...50,956,018
Ensembl chr14:50,945,122...50,955,983

G

G protein subunit beta 1 like

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:51,306,561...51,343,040
Ensembl chr14:51,305,039...51,343,029

G

glycoprotein Ib platelet subunit beta

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114

G

goosecoid homeobox 2

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:50,956,315...50,960,424
Ensembl chr14:50,957,991...50,960,193

G

histone cell cycle regulator

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:51,029,117...51,102,409
Ensembl chr14:51,029,126...51,102,409

G

kelch like family member 22

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:50,773,917...50,809,991
Ensembl chr14:50,773,964...50,809,986

G

leucine rich repeat containing 74B

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:50,602,524...50,623,367
Ensembl chr14:50,602,701...50,623,116

G

leucine zipper like post translational regulator 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397

G

mediator complex subunit 15

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:50,703,010...50,759,310
Ensembl chr14:50,703,019...50,759,310

G

microRNA mir-1306

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:51,473,918...51,473,997
Ensembl chr14:51,473,918...51,473,997

G

microRNA mir-185

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:51,449,903...51,449,978
Ensembl chr14:51,449,903...51,449,978

G

mitochondrial ribosomal protein L40

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:51,102,900...51,105,769
Ensembl chr14:51,102,613...51,105,767

G

purinergic receptor P2X 6

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:50,595,876...50,633,536
Ensembl chr14:50,622,938...50,633,535

G

phosphatidylinositol 4-kinase alpha

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:50,390,416...50,491,983
Ensembl chr14:50,390,410...50,491,944

G

RAN binding protein 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:51,494,258...51,500,420
Ensembl chr14:51,494,359...51,500,417

G

retrotransposon Gag like 10

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:51,338,134...51,342,383

G

reticulon 4 receptor

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:51,579,043...51,603,180
Ensembl chr14:51,579,046...51,602,968

G

scavenger receptor class F member 2

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:50,813,161...50,824,434
Ensembl chr14:50,812,984...50,824,521

G

septin 5

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:51,252,815...51,260,851
Ensembl chr14:51,252,815...51,261,244

G

serpin family D member 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:50,427,121...50,436,470
Ensembl chr14:50,427,115...50,436,468

G

solute carrier family 25 member 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:50,974,616...51,002,970
Ensembl chr14:50,974,617...50,978,039

G

solute carrier family 7 member 4

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:50,631,693...50,638,381
Ensembl chr14:50,633,878...50,637,404

G

synaptosome associated protein 29

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:50,492,187...50,511,475
Ensembl chr14:50,492,187...50,511,456

G

transport and golgi organization 2 homolog

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:51,443,597...51,464,370
Ensembl chr14:51,443,638...51,464,367

G

T-box transcription factor 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725

G

THAP domain containing 7

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:50,591,412...50,593,778
Ensembl chr14:50,591,410...50,594,105

G

tRNA methyltransferase 2 homolog A

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:51,489,889...51,494,204
Ensembl chr14:51,489,892...51,494,190

G

testis specific serine kinase 2

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:50,943,017...50,944,093
Ensembl chr14:50,943,017...50,944,093

G

thioredoxin reductase 2

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:51,355,731...51,385,096
Ensembl chr14:51,356,831...51,383,262

G

ubiquitin recognition factor in ER associated degradation 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:51,113,858...51,132,820
Ensembl chr14:51,113,713...51,133,072

G

zinc finger DHHC-type palmitoyltransferase 8

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:51,503,074...51,517,577
Ensembl chr14:51,503,114...51,516,885

G

zinc finger protein 74

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr14:50,840,500...50,869,945
Ensembl chr14:50,840,510...50,869,489

chromosome 2p16.1-p15 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ubiquitin specific peptidase 34

ClinVar Annotator: match by term: Chromosome 2p16.1-p15 deletion syndrome

NCBI chr 3:80,330,896...80,589,514
Ensembl chr 3:80,370,691...80,587,761

CHROMOSOME 2p16.3 DELETION SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

neurexin 1

susceptibility

ClinVar Annotator: match by term: Chromosome 2P16.3 deletion syndrome | ClinVar Annotator: match by term: Chromosome 2p16.3 deletion syndrome

PMID:18179900 PMID:18945720 PMID:21681106 PMID:23495017 PMID:25741868 More...

NCBI chr 3:89,799,426...90,914,205
Ensembl chr 3:89,803,519...90,382,034

chromosome 2q37 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alanine--glyoxylate aminotransferase

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:139,720,648...139,730,737
Ensembl chr15:139,720,612...139,730,736

G

ankyrin repeat and MYND domain containing 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:139,485,294...139,531,861
Ensembl chr15:139,485,294...139,532,908

G

anoctamin 7

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:139,951,191...139,956,575

G

aquaporin 12

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:139,600,775...139,606,712

G

ankyrin repeat and SOCS box containing 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:137,931,419...137,952,050
Ensembl chr15:137,931,774...137,952,046

G

autophagy related 4B cysteine peptidase

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:140,223,903...140,245,590
Ensembl chr15:140,223,904...140,246,321

G

BCL2 family apoptosis regulator BOK

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:140,171,134...140,184,126
Ensembl chr15:140,171,143...140,184,121

G

calpain 10

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:139,557,643...139,568,764
Ensembl chr15:139,557,469...139,568,767

G

collagen type VI alpha 3 chain

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709

G

COP9 signalosome subunit 8

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:136,828,222...136,838,058
Ensembl chr15:136,828,217...136,838,053

G

COP9 signalosome subunit 9

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:139,260,471...139,264,252
Ensembl chr15:139,260,478...139,264,211

G

ciliary rootlet coiled-coil, rootletin family member 2

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:139,749,160...139,817,779
Ensembl chr15:139,766,414...139,811,999

G

D-2-hydroxyglutarate dehydrogenase

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:140,282,059...140,301,894
Ensembl chr15:140,282,094...140,301,892

G

deoxythymidylate kinase

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:140,248,071...140,255,803
Ensembl chr15:140,248,079...140,255,805

G

dual specificity phosphatase 28

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:139,536,828...139,539,448
Ensembl chr15:139,537,326...139,539,438

G

erythroferrone

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:137,728,507...137,738,687
Ensembl chr15:137,728,478...137,738,676

G

espin like

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:137,674,867...137,706,968
Ensembl chr15:137,675,710...137,706,662

G

FERM, ARH/RhoGEF and pleckstrin domain protein 2

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:140,060,304...140,144,059
Ensembl chr15:140,060,372...140,144,037

G

galactose-3-O-sulfotransferase 2

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:140,308,612...140,322,624
Ensembl chr15:140,308,433...140,322,618

G

glypican 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:139,457,866...139,483,704
Ensembl chr15:139,457,669...139,484,670

G

G protein-coupled receptor 35

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:139,571,093...139,591,638
Ensembl chr15:139,583,769...139,591,632

G

histone deacetylase 4

ClinVar Annotator: match by term: 2q37 microdeletion syndrome | ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

PMID:10958686 PMID:11486037 PMID:20691407 PMID:23188045 PMID:24715439 More...

NCBI chr15:138,378,237...138,657,266
Ensembl chr15:138,381,635...138,614,301

G

high density lipoprotein binding protein

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:139,957,703...140,025,336
Ensembl chr15:139,957,715...140,022,302

G

hes family bHLH transcription factor 6

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:137,785,808...137,787,689
Ensembl chr15:137,785,810...137,787,694

G

ILK associated serine/threonine phosphatase

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:137,740,291...137,765,758
Ensembl chr15:137,740,292...137,765,784

G

inhibitor of growth family member 5

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:140,264,708...140,279,020
Ensembl chr15:140,264,766...140,279,010

G

kinesin family member 1A

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:139,610,624...139,694,841
Ensembl chr15:139,610,627...139,694,826

G

kelch like family member 30

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:137,709,315...137,721,806
Ensembl chr15:137,709,322...137,721,800

G

olfactory receptor 6B2

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:139,040,721...139,041,685

G

olfactory receptor 6B3-like

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:139,049,403...139,050,341

G

LRR binding FLII interacting protein 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:137,283,262...137,439,383
Ensembl chr15:137,283,276...137,439,385

G

mab-21 like 4

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:139,734,539...139,745,131
Ensembl chr15:139,734,539...139,744,530

G

melanophilin

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:137,173,962...137,219,724
Ensembl chr15:137,174,009...137,219,713

G

mitochondrial transcription termination factor 4

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:139,881,217...139,887,505
Ensembl chr15:139,881,222...139,887,032

G

NADH:ubiquinone oxidoreductase subunit A10

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:138,999,174...139,031,892
Ensembl chr15:138,986,421...139,031,897

G

neuraminidase 4

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:140,324,087...140,332,226
Ensembl chr15:140,325,852...140,331,529

G

otospiralin

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:139,268,930...139,272,155
Ensembl chr15:139,268,929...139,277,541

G

PAS domain containing serine/threonine kinase

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:139,887,439...139,917,887
Ensembl chr15:139,890,178...139,917,069

G

programmed cell death 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478

G

period circadian regulator 2

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:137,793,419...137,837,854
Ensembl chr15:137,793,422...137,837,070

G

protein phosphatase 1 regulatory subunit 7

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:139,918,006...139,937,168
Ensembl chr15:139,917,257...139,941,251

G

prolactin releasing hormone

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:137,230,209...137,232,178
Ensembl chr15:137,230,247...137,230,954

G

RAB17, member RAS oncogene family

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:137,232,781...137,255,884
Ensembl chr15:137,235,936...137,261,057

G

receptor activity modifying protein 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:137,490,440...137,535,555
Ensembl chr15:137,490,356...137,535,553

G

RNA binding motif protein 44

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:137,444,905...137,482,073
Ensembl chr15:137,444,855...137,481,025

G

arginyl aminopeptidase like 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:139,542,193...139,551,257
Ensembl chr15:139,542,602...139,551,250

G

receptor transporter protein 5 (putative)

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:140,355,264...140,358,828

G

selenocysteine lyase

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:137,637,076...137,674,726
Ensembl chr15:137,637,128...137,674,735

G

septin 2

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:140,023,836...140,058,291
Ensembl chr15:140,024,049...140,058,289

G

sushi, nidogen and EGF like domains 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:139,821,021...139,881,099
Ensembl chr15:139,821,228...139,881,092

G

serine/threonine kinase 25

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:140,144,334...140,154,361
Ensembl chr15:140,144,336...140,154,366

G

THAP domain containing 4

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:140,190,198...140,223,454
Ensembl chr15:140,185,682...140,223,477

G

TRAF3 interacting protein 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:137,863,612...137,912,325
Ensembl chr15:137,863,609...137,912,477

G

twist family bHLH transcription factor 2

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:138,228,640...138,276,341
Ensembl chr15:138,228,807...138,229,289

G

ubiquitin conjugating enzyme E2 F (putative)

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr15:137,567,250...137,620,586

Chromosome 3, Monosomy 3p25

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

caveolin 3

CTD Direct Evidence: marker/mechanism

NCBI chr13:65,117,868...65,130,886
Ensembl chr13:65,117,795...65,131,273

G

oxytocin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr13:65,134,055...65,155,543
Ensembl chr13:65,134,057...65,153,487

G

SLIT-ROBO Rho GTPase activating protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr13:65,367,596...65,759,892
Ensembl chr13:65,367,608...65,721,405

chromosome 3q29 microdeletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centrosomal protein 19

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr13:133,420,017...133,428,394
Ensembl chr13:133,420,032...133,428,390

G

discs large MAGUK scaffold protein 1

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr13:132,819,931...133,084,880
Ensembl chr13:132,820,870...133,086,841

G

dynein light chain Tctex-type 2B

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr13:133,774,548...133,798,920
Ensembl chr13:133,774,574...133,800,038

G

F-box protein 45

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr13:133,544,915...133,560,687
Ensembl chr13:133,545,417...133,560,499

G

melanotransferrin

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr13:133,094,869...133,122,092
Ensembl chr13:133,094,863...133,122,065

G

nuclear cap binding protein subunit 2

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr13:133,177,209...133,192,935
Ensembl chr13:133,178,166...133,192,923

G

negative regulator of reactive oxygen species

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr13:133,470,641...133,496,218
Ensembl chr13:133,470,645...133,496,223

G

p21 (RAC1) activated kinase 2

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr13:133,276,122...133,383,506
Ensembl chr13:133,273,112...133,389,458

G

phosphate cytidylyltransferase 1A, choline

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr13:133,794,337...133,851,004
Ensembl chr13:133,818,761...133,850,996

G

phosphatidylinositol glycan anchor biosynthesis class X

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr13:133,389,198...133,420,189
Ensembl chr13:133,389,060...133,420,276

G

phosphatidylinositol glycan anchor biosynthesis class Z

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr13:133,157,168...133,191,786

G

ring finger protein 168

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr13:133,625,534...133,659,253

G

SUMO specific peptidase 5

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr13:133,196,026...133,269,468
Ensembl chr13:133,193,252...133,269,447

G

solute carrier family 51 member A

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr13:133,851,775...133,869,753
Ensembl chr13:133,851,776...133,869,753

G

single-pass membrane protein with coiled-coil domains 1

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr13:133,615,397...133,621,081
Ensembl chr13:133,615,398...133,621,074

G

transferrin receptor

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr13:133,976,765...133,997,554
Ensembl chr13:133,970,985...134,000,276

G

transmembrane 4 L six family member 19

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr13:133,759,122...133,770,064
Ensembl chr13:133,759,539...133,767,956

G

tyrosine kinase non receptor 2

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr13:134,082,266...134,124,826
Ensembl chr13:134,101,377...134,124,824

G

UBX domain protein 7

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr13:133,689,783...133,753,605

G

WD repeat domain 53

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr13:133,560,832...133,573,042
Ensembl chr13:133,561,021...133,574,376

G

zinc finger DHHC-type palmitoyltransferase 19

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr13:133,873,072...133,886,202
Ensembl chr13:133,875,309...133,885,763

chromosome 4q21 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

abraxas 1, BRCA1 A complex subunit

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 8:135,002,297...135,021,205
Ensembl chr 8:135,002,321...135,023,335

G

CDP-diacylglycerol synthase 1

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 8:133,959,250...134,041,258
Ensembl chr 8:133,959,247...134,041,258

G

COP9 signalosome subunit 4

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 8:135,280,475...135,314,393
Ensembl chr 8:135,280,506...135,314,460

G

coenzyme Q2, polyprenyltransferase

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 8:135,130,486...135,150,428
Ensembl chr 8:135,130,453...135,150,031

G

enolase-phosphatase 1

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 8:135,775,743...135,802,404
Ensembl chr 8:135,775,745...135,802,388

G

glycerol-3-phosphate acyltransferase 3

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 8:134,912,493...135,002,140
Ensembl chr 8:134,912,491...134,977,388

G

helicase, POLQ like

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 8:135,026,117...135,061,051
Ensembl chr 8:135,026,315...135,061,043

G

heterogeneous nuclear ribonucleoprotein D

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 8:135,844,492...135,862,633
Ensembl chr 8:135,844,487...135,862,626

G

heterogeneous nuclear ribonucleoprotein D like

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 8:135,802,530...135,809,871
Ensembl chr 8:135,802,896...135,809,862

G

heparanase

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 8:135,082,199...135,120,887
Ensembl chr 8:135,097,725...135,120,887

G

lin-54 DREAM MuvB core complex component

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 8:135,330,868...135,398,274
Ensembl chr 8:135,330,919...135,398,263

G

mitochondrial ribosomal protein S18C

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 8:135,019,702...135,026,719
Ensembl chr 8:135,015,413...135,026,064

G

NK6 homeobox 1

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 8:134,137,064...134,143,524
Ensembl chr 8:134,138,097...134,144,254

G

placenta associated 8

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 8:135,250,761...135,279,091

G

stearoyl-CoA desaturase 5

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 8:135,507,346...135,634,031
Ensembl chr 8:135,507,296...135,634,021

G

SEC31 homolog A, COPII coat complex component

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 8:135,431,965...135,495,124
Ensembl chr 8:135,426,403...135,495,121

G

THAP domain containing 9

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 8:135,394,204...135,420,739
Ensembl chr 8:135,394,779...135,420,733

G

transmembrane protein 150C

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 8:135,684,681...135,764,608
Ensembl chr 8:135,687,934...135,765,934

Chromosome 5, Trisomy 5q

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cadherin related family member 2

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 2:81,319,179...81,361,598
Ensembl chr 2:81,318,407...81,361,606

G

eukaryotic translation initiation factor 4E family member 1B

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 2:81,277,086...81,281,668
Ensembl chr 2:81,277,952...81,281,453

G

Fas associated factor family member 2

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 2:81,401,852...81,454,272
Ensembl chr 2:81,401,859...81,454,262

G

fibroblast growth factor receptor 4

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 2:80,841,536...80,853,791
Ensembl chr 2:80,841,536...80,853,796

G

G protein regulated inducer of neurite outgrowth 1

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 2:81,307,732...81,319,183
Ensembl chr 2:81,315,368...81,318,382

G

hexokinase 3

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 2:81,042,401...81,060,832
Ensembl chr 2:81,042,755...81,060,826

G

lectin, mannose binding 2

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 2:80,595,064...80,636,168
Ensembl chr 2:80,595,334...80,609,594

G

MAX dimerization protein 3

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 2:80,636,778...80,641,346
Ensembl chr 2:80,637,323...80,641,950

G

nuclear receptor binding SET domain protein 1

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 2:80,649,882...80,810,934
Ensembl chr 2:80,654,379...80,809,059

G

PRELI domain containing 1

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 2:80,641,844...80,646,390
Ensembl chr 2:80,641,845...80,653,670

G

RAB24, member RAS oncogene family

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 2:80,646,426...80,651,498

G

regulator of G protein signaling 14

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 2:80,574,411...80,589,998
Ensembl chr 2:80,574,415...80,590,003

G

ring finger protein 44

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 2:81,372,427...81,390,232
Ensembl chr 2:81,378,725...81,390,230

G

synuclein beta

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 2:81,287,764...81,302,859
Ensembl chr 2:81,287,759...81,302,861

G

tetraspanin 17

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 2:81,256,989...81,276,638
Ensembl chr 2:81,260,281...81,276,636

G

ubiquitin interaction motif containing 1

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 2:80,895,631...81,040,712
Ensembl chr 2:80,929,267...81,036,448

G

unc-5 netrin receptor A

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 2:81,061,096...81,126,191
Ensembl chr 2:81,060,803...81,126,196

G

zinc finger protein 346

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 2:80,871,576...80,895,592
Ensembl chr 2:80,871,595...80,895,585

chromosome 5q deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

eukaryotic translation elongation factor 1 delta

ClinVar Annotator: match by term: Chromosome 5q deletion syndrome

NCBI chr 4:969,532...982,250
Ensembl chr 4:969,527...983,270

G

KLF transcription factor 1

mRNA:decreased expression:bone marrow, blood

NCBI chr 2:66,144,767...66,148,500
Ensembl chr 2:66,144,777...66,148,517

G

ribosomal protein S14

NCBI chr 2:151,430,047...151,433,951
Ensembl chr 2:151,430,049...151,433,856

chromosome 6q24-q25 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

A-kinase anchoring protein 12

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:14,904,109...15,017,016
Ensembl chr 1:14,904,116...15,016,997

G

AT-rich interaction domain 1B

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,633...10,227,502

G

acidic residue methyltransferase 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:14,777,131...14,795,323
Ensembl chr 1:14,772,610...14,795,318

G

coiled-coil domain containing 170

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:14,649,453...14,751,051
Ensembl chr 1:14,657,359...14,751,051

G

claudin 20

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:11,617,807...11,618,550
Ensembl chr 1:11,617,807...11,618,550

G

CNKSR family member 3

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:12,297,740...12,396,946
Ensembl chr 1:12,297,676...12,396,688

G

dynein light chain Tctex-type 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:8,556,083...8,562,865
Ensembl chr 1:8,556,059...8,563,676

G

estrogen receptor 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363

G

ezrin

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:8,403,362...8,452,750
Ensembl chr 1:8,403,453...8,452,742

G

F-box protein 5

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:13,466,961...13,478,496
Ensembl chr 1:13,467,501...13,505,928

G

fibronectin type III domain containing 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:8,007,320...8,106,875
Ensembl chr 1:8,007,321...8,106,830

G

general transcription factor IIH subunit 5

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:8,928,280...8,935,030
Ensembl chr 1:8,917,240...8,934,983

G

interaction protein for cytohesin exchange factors 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:12,511,612...12,602,736
Ensembl chr 1:12,506,220...12,602,724

G

iodotyrosine deiodinase

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:15,756,536...15,779,380
Ensembl chr 1:15,756,550...15,779,164

G

methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:15,140,929...15,330,265
Ensembl chr 1:15,140,899...15,329,986

G

mitochondrial translation release factor 1 like

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:13,443,602...13,458,291
Ensembl chr 1:13,446,492...13,458,287

G

MYC target 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:13,651,397...13,667,210
Ensembl chr 1:13,651,399...13,667,284

G

NADPH oxidase 3

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:11,443,681...11,501,140
Ensembl chr 1:11,445,956...11,501,979

G

opioid receptor mu 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:12,634,125...12,702,295
Ensembl chr 1:12,528,672...12,702,443

G

pleckstrin homology and RhoGEF domain containing G1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:15,341,634...15,588,224
Ensembl chr 1:15,341,638...15,587,590

G

regulator of G protein signaling 17

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:13,340,253...13,442,058
Ensembl chr 1:13,340,355...13,442,039

G

required for meiotic nuclear division 1 homolog

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:14,795,632...14,852,026
Ensembl chr 1:14,795,674...14,855,069

G

radial spoke head 3

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:8,243,177...8,265,816
Ensembl chr 1:8,244,040...8,265,659

G

SR-related CTD associated factor 8

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:11,888,108...12,122,435
Ensembl chr 1:12,040,485...12,122,337

G

serine active site containing 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:8,935,081...9,002,774
Ensembl chr 1:8,935,091...9,002,770

G

sorting nexin 9

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:9,130,360...9,239,023
Ensembl chr 1:9,130,338...9,239,029

G

spectrin repeat containing nuclear envelope protein 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:13,715,644...14,201,711

G

synaptojanin 2

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:9,014,206...9,109,050
Ensembl chr 1:9,014,551...9,109,103

G

synaptotagmin like 3

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:8,452,822...8,546,637
Ensembl chr 1:8,453,283...8,546,530

G

T cell activation RhoGTPase activating protein

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:8,209,298...8,217,993
Ensembl chr 1:8,209,314...8,219,630

G

transcription factor B1, mitochondrial

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:11,566,193...11,650,656
Ensembl chr 1:11,566,245...11,653,871

G

TIAM Rac1 associated GEF 2

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:11,648,506...11,897,869
Ensembl chr 1:11,648,508...11,759,348

G

transmembrane protein 181

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:8,564,752...8,642,358
Ensembl chr 1:8,562,844...8,635,462

G

transmembrane protein 242

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:9,667,865...9,718,226
Ensembl chr 1:9,667,291...9,723,347

G

TUB like protein 4

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:8,650,811...8,891,596

G

vasoactive intestinal peptide

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:13,611,786...13,620,250
Ensembl chr 1:13,611,311...13,620,269

G

zinc finger and BTB domain containing 2

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:14,858,933...14,895,744
Ensembl chr 1:14,866,252...14,894,948

G

zinc finger DHHC-type palmitoyltransferase 14

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:9,348,016...9,619,719
Ensembl chr 1:9,350,332...9,619,725

Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain containing 146

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 9:102,784,299...102,919,758
Ensembl chr 9:102,787,542...102,919,758

G

C-C motif chemokine ligand 24

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 3:10,347,397...10,361,500

G

C-C motif chemokine ligand 26

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 3:10,381,306...10,385,677
Ensembl chr 3:10,381,306...10,385,677

G

deltex E3 ubiquitin ligase 2

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 3:9,880,586...9,925,866
Ensembl chr 3:9,888,561...9,925,850

G

fibrinogen like 2

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 9:102,869,044...102,875,564
Ensembl chr 9:102,868,802...102,875,576

G

gamma-secretase activating protein

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 9:102,694,846...102,785,208
Ensembl chr 9:102,694,861...102,787,536

G

huntingtin interacting protein 1

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 3:10,416,418...10,578,374
Ensembl chr 3:10,416,475...10,578,366

G

heat shock protein family B (small) member 1

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 3:10,038,074...10,039,441
Ensembl chr 3:10,037,949...10,039,704

G

general transcription factor II-I repeat domain-containing protein 2

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 3:11,841,953...11,898,456

G

membrane associated guanylate kinase, WW and PDZ domain containing 2

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 9:100,846,693...102,171,199
Ensembl chr 9:100,847,013...102,170,004

G

malate dehydrogenase 2

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 3:10,120,121...10,132,705
Ensembl chr 3:10,120,083...10,132,752

G

putative homeodomain transcription factor 2

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 9:102,221,033...102,348,748
Ensembl chr 9:102,221,326...102,348,696

G

POM121 transmembrane nucleoporin C

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 3:10,609,075...10,633,374

G

cytochrome p450 oxidoreductase

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 3:10,212,734...10,272,184
Ensembl chr 3:10,212,735...10,281,823

G

protein tyrosine phosphatase non-receptor type 12

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 9:102,480,914...102,563,969
Ensembl chr 9:102,480,924...102,563,751

G

RCC1 like

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 3:11,915,540...11,948,711
Ensembl chr 3:11,915,600...11,948,715

G

rhomboid domain containing 2

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 3:10,299,201...10,329,638
Ensembl chr 3:10,299,209...10,309,622

G

round spermatid basic protein 1 like

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 9:102,366,605...102,435,215
Ensembl chr 9:102,363,944...102,435,198

G

serine/arginine repetitive matrix 3

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 3:10,046,538...10,102,149
Ensembl chr 3:10,046,538...10,102,124

G

scavenger receptor cysteine rich family member with 4 domains

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 3:9,960,696...9,974,330
Ensembl chr 3:9,961,120...9,974,320

G

serine/threonine/tyrosine interacting like 1

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 3:10,131,508...10,212,611
Ensembl chr 3:10,132,093...10,205,179

G

transmembrane protein 120A

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 3:10,206,581...10,212,612
Ensembl chr 3:10,206,630...10,212,610

G

transmembrane protein 60

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 9:102,349,033...102,354,642
Ensembl chr 9:102,349,019...102,354,640

G

uroplakin 3B

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 3:9,878,375...9,886,690
Ensembl chr 3:9,880,585...9,886,846

G

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

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 3:9,994,802...10,023,296
Ensembl chr 3:9,994,836...10,023,289

G

zona pellucida glycoprotein 3

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 3:9,934,760...9,944,924
Ensembl chr 3:9,934,760...9,944,941

chromosome 9p deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenylate kinase 3

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:217,236,561...217,263,144
Ensembl chr 1:217,236,482...217,261,367

G

bromodomain containing 10

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:216,112,922...216,226,158
Ensembl chr 1:216,115,820...216,226,154

G

CD274 molecule

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724

G

cell division cycle 37 like 1, HSP90 cochaperone

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:217,260,927...217,287,996
Ensembl chr 1:217,243,151...217,287,963

G

distal membrane arm assembly component 1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:214,452,600...214,454,279
Ensembl chr 1:214,448,041...214,455,912

G

doublesex and mab-3 related transcription factor 1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:220,841,485...220,953,442
Ensembl chr 1:220,841,488...220,953,442

G

doublesex and mab-3 related transcription factor 2

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:220,745,493...220,799,779
Ensembl chr 1:220,745,502...220,757,324

G

doublesex and mab-3 related transcription factor 3

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:220,819,525...220,834,080
Ensembl chr 1:220,820,556...220,834,034

G

dedicator of cytokinesis 8

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:221,257,771...221,491,889
Ensembl chr 1:221,256,009...221,491,953

G

DOCK8 antisense RNA 1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:221,491,735...221,492,831

G

endoplasmic reticulum metallopeptidase 1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:216,312,827...216,382,063
Ensembl chr 1:216,312,615...216,396,296

G

forkhead box D4

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:221,577,685...221,580,452

G

FRAS1 related extracellular matrix 1

OMIM:158170

NCBI chr 1:207,535,811...207,804,525
Ensembl chr 1:207,641,011...207,801,952

G

glycine decarboxylase

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:215,608,854...215,715,062
Ensembl chr 1:215,608,849...215,715,059

G

GLIS family zinc finger 3

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:217,572,604...218,117,629
Ensembl chr 1:217,629,883...218,117,267

G

interleukin 33

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840

G

insulin like 6

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:216,792,785...216,820,197
Ensembl chr 1:216,792,787...216,823,479

G

Janus kinase 2

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148

G

KN motif and ankyrin repeat domains 1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:221,015,042...221,218,875
Ensembl chr 1:221,015,046...221,078,245

G

potassium voltage-gated channel modifier subfamily V member 2

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:219,099,858...219,113,194
Ensembl chr 1:219,100,447...219,112,905

G

lysine demethylase 4C

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:215,071,335...215,507,778
Ensembl chr 1:215,071,419...215,507,800

G

microRNA mir-101-1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:217,152,783...217,152,873
Ensembl chr 1:217,152,783...217,152,873

G

melan-A

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:216,230,472...216,247,171
Ensembl chr 1:216,232,832...216,245,359

G

programmed cell death 1 ligand 2

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:216,564,428...216,600,333
Ensembl chr 1:216,553,105...216,657,170

G

plasminogen receptor with a C-terminal lysine

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:216,692,002...216,739,726
Ensembl chr 1:216,692,047...216,739,722

G

protein tyrosine phosphatase receptor type D

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:211,832,409...214,013,013
Ensembl chr 1:213,483,348...214,009,893

G

pumilio RNA binding family member 3

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:218,994,139...219,038,208
Ensembl chr 1:218,994,200...219,038,506

G

RAN binding protein 6

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:216,104,432...216,112,218
Ensembl chr 1:215,807,795...216,112,209

G

RNA terminal phosphate cyclase like 1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:217,142,965...217,204,960
Ensembl chr 1:217,142,966...217,204,965

G

regulatory factor X3

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:218,340,427...218,647,389
Ensembl chr 1:218,360,718...218,640,923

G

RIC1 homolog, RAB6A GEF complex partner 1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:216,382,179...216,494,815
Ensembl chr 1:216,382,128...216,494,793

G

relaxin 2

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:216,763,546...216,769,802

G

solute carrier family 1 member 1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:217,366,493...217,441,643
Ensembl chr 1:217,366,499...217,441,674

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:219,624,773...219,815,438
Ensembl chr 1:219,573,535...219,815,421

G

spermatogenesis associated 6 like

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:217,287,961...217,353,093
Ensembl chr 1:217,300,959...217,352,573

G

TPD52 like 3

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:215,841,463...215,842,606
Ensembl chr 1:215,840,563...215,842,113

G

ubiquitin like with PHD and ring finger domains 2

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:215,730,212...215,807,630
Ensembl chr 1:215,730,225...215,807,627

G

very low density lipoprotein receptor

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:219,178,501...219,210,332
Ensembl chr 1:219,173,507...219,210,343

G

WASH complex subunit 1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 5:67,395,737...67,412,408
Ensembl chr 5:67,394,875...67,412,431

G

Zn regulated GTPase metalloprotein activator 1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:221,521,313...221,570,992

Chromosome Deletion

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase inhibitor 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854

G

RAD51 paralog D

CTD Direct Evidence: marker/mechanism

NCBI chr12:40,075,259...40,151,034
Ensembl chr12:40,075,337...40,151,043

G

SH3 and multiple ankyrin repeat domains 3

NCBI chr 5:41,376...93,033
Ensembl chr 5:41,786...93,177

Cri-du-Chat syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421

Deafness, with Smith-Magenis Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin XVA

ClinVar Annotator: match by term: Deafness, with smith-magenis syndrome

PMID:11735029 PMID:17546645 PMID:19274735 PMID:24033266 PMID:25741868 More...

NCBI chr12:60,533,502...60,582,645

Deafness-Infertility Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cation channel sperm associated 2

ClinVar Annotator: match by term: Deafness-infertility syndrome

PMID:19344877 PMID:24033266 PMID:25741868

NCBI chr 1:127,814,349...127,831,023
Ensembl chr 1:127,814,376...127,829,109

G

creatine kinase, mitochondrial 1A

ClinVar Annotator: match by term: Deafness-infertility syndrome

NCBI chr 1:127,852,533...127,859,066

G

protein disulfide isomerase family A member 3

ClinVar Annotator: match by term: Deafness-infertility syndrome

NCBI chr 1:127,786,174...127,814,096
Ensembl chr 1:127,785,772...127,814,196

G

diphosphoinositol pentakisphosphate kinase 1

ClinVar Annotator: match by term: Deafness-infertility syndrome

NCBI chr 1:127,865,487...127,915,501
Ensembl chr 1:127,865,562...127,915,451

G

stereocilin

ClinVar Annotator: match by term: Deafness-infertility syndrome

PMID:18414213 PMID:21078986 PMID:22147502 PMID:24033266 PMID:25157971 More...

NCBI chr 1:127,830,759...127,852,392
Ensembl chr 1:127,835,622...127,852,339

DiGeorge syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apoptosis inducing factor mitochondria associated 3

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:50,562,611...50,576,273
Ensembl chr14:50,562,776...50,576,275

G

aldehyde dehydrogenase 1 family member A2

OMIM:188400

NCBI chr 1:113,932,722...114,037,059
Ensembl chr 1:113,932,739...114,037,046

G

ARVCF delta catenin family member

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:51,403,215...51,440,036
Ensembl chr14:51,403,923...51,440,058

G

BCR activator of RhoGEF and GTPase

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr14:49,208,662...49,322,109
Ensembl chr14:49,208,762...49,322,103

G

chromosome 14 C22orf39 homolog

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:51,106,984...51,112,385
Ensembl chr14:51,106,991...51,112,359

G

coiled-coil domain containing 116

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr14:50,255,859...50,260,743

G

coiled-coil domain containing 188

ClinVar Annotator: match by term: 22q11.2 deletion syndrome

NCBI chr14:51,517,669...51,520,622
Ensembl chr14:51,517,234...51,520,622

G

cell division cycle 45

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606

G

chordin

OMIM:188400

NCBI chr13:122,266,632...122,277,513
Ensembl chr13:122,266,626...122,277,645

G

claudin 5

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:51,161,490...51,162,382
Ensembl chr14:51,161,042...51,163,482

G

catechol-O-methyltransferase

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998

G

CRK like proto-oncogene, adaptor protein

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:50,528,950...50,558,664
Ensembl chr14:50,528,955...50,558,662

G

DiGeorge syndrome critical region gene 2

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:50,881,260...50,935,603
Ensembl chr14:50,877,872...50,935,564

G

DiGeorge syndrome critical region gene 6 like

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:51,644,840...51,657,368

G

DGCR8 microprocessor complex subunit

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:51,473,512...51,489,535
Ensembl chr14:51,469,178...51,489,529

G

dicer 1, ribonuclease III

OMIM:188400

NCBI chr 7:116,361,630...116,436,471
Ensembl chr 7:116,365,802...116,411,224

G

dedicator of cytokinesis 1

OMIM:188400

NCBI chr14:136,199,747...136,745,488
Ensembl chr14:136,257,807...136,741,882

G

dishevelled segment polarity protein 1

NCBI chr 6:63,617,787...63,628,965
Ensembl chr 6:63,617,789...63,628,913

G

ess-2 splicing factor homolog

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:50,945,121...50,956,018
Ensembl chr14:50,945,122...50,955,983

G

fibroblast growth factor 8

CTD Direct Evidence: marker/mechanism
OMIM:188400

NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248

G

forkhead box N1

OMIM:188400

NCBI chr12:44,764,427...44,796,138
Ensembl chr12:44,765,258...44,795,260

G

gamma-glutamyltransferase 1

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:31690835 PMID:32581362

NCBI chr14:49,618,737...49,638,054

G

G protein subunit alpha z

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr14:49,132,012...49,174,114
Ensembl chr14:49,132,013...49,174,108

G

G protein subunit beta 1 like

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:51,306,561...51,343,040
Ensembl chr14:51,305,039...51,343,029

G

glycoprotein Ib platelet subunit beta

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114

G

goosecoid homeobox 2

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:50,956,315...50,960,424
Ensembl chr14:50,957,991...50,960,193

G

HIC ZBTB transcriptional repressor 2

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr14:50,347,575...50,373,007
Ensembl chr14:50,365,851...50,368,634

G

histone cell cycle regulator

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:51,029,117...51,102,409
Ensembl chr14:51,029,126...51,102,409

G

HNF1 homeobox A

ClinVar Annotator: match by term: DiGeorge syndrome

PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More...

NCBI chr14:40,868,819...40,888,322
Ensembl chr14:40,868,676...40,888,328

G

homeobox A3

OMIM:188400

NCBI chr18:45,421,542...45,467,803
Ensembl chr18:45,454,213...45,466,537

G

lysine acetyltransferase 6A

OMIM:188400

NCBI chr17:11,002,818...11,109,974

G

kelch like family member 22

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:50,773,917...50,809,991
Ensembl chr14:50,773,964...50,809,986

G

RIMS-binding protein 3A

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr14:50,323,037...50,331,111

G

immunoglobulin lambda-like polypeptide 5

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr14:49,951,542...49,960,517

G

proline dehydrogenase 1, mitochondrial

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:51,624,919...51,644,467

G

zinc finger protein 280A-like

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr14:48,882,955...48,888,138

G

leucine rich repeat containing 74B

ClinVar Annotator: match by term: 22q11.2 deletion syndrome

NCBI chr14:50,602,524...50,623,367
Ensembl chr14:50,602,701...50,623,116

G

leucine zipper like post translational regulator 1

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397

G

mitogen-activated protein kinase 1

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513

G

mediator complex subunit 15

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:50,703,010...50,759,310
Ensembl chr14:50,703,019...50,759,310

G

microtubule associated monooxygenase, calponin and LIM domain containing 3

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr 5:69,887,884...70,132,969
Ensembl chr 5:69,887,892...70,059,494

G

microRNA mir-1306

ClinVar Annotator: match by term: 22q11.2 deletion syndrome

NCBI chr14:51,473,918...51,473,997
Ensembl chr14:51,473,918...51,473,997

G

microRNA mir-185

ClinVar Annotator: match by term: 22q11.2 deletion syndrome

NCBI chr14:51,449,903...51,449,978
Ensembl chr14:51,449,903...51,449,978

G

mitochondrial ribosomal protein L40

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:51,102,900...51,105,769
Ensembl chr14:51,102,613...51,105,767

G

N-deacetylase and N-sulfotransferase 1

OMIM:188400

NCBI chr 2:151,433,925...151,525,909
Ensembl chr 2:151,489,521...151,522,749

G

purinergic receptor P2X 6

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:31690835 PMID:32581362

NCBI chr14:50,595,876...50,633,536
Ensembl chr14:50,622,938...50,633,535

G

peroxisomal biogenesis factor 26

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr 5:70,133,024...70,142,515
Ensembl chr 5:70,133,024...70,142,503

G

phosphatidylinositol 4-kinase alpha

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:50,390,416...50,491,983
Ensembl chr14:50,390,410...50,491,944

G

plexin D1

OMIM:188400

NCBI chr13:68,946,658...68,996,625
Ensembl chr13:68,946,665...68,996,618

G

peptidylprolyl isomerase like 2

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr14:50,206,807...50,232,845
Ensembl chr14:50,208,374...50,232,830

G

protein phosphatase, Mg2+/Mn2+ dependent 1F

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr14:50,040,612...50,083,047
Ensembl chr14:50,040,663...50,063,325

G

PRAME nuclear receptor transcriptional regulator

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr14:48,901,097...48,906,855
Ensembl chr14:48,899,343...48,911,231

G

RAB36, member RAS oncogene family

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr14:49,186,282...49,202,334
Ensembl chr14:49,188,360...49,204,656

G

RAN binding protein 1

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:51,494,258...51,500,420
Ensembl chr14:51,494,359...51,500,417

G

radial spoke head 14 homolog

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr14:49,123,934...49,186,157
Ensembl chr14:49,123,935...49,184,735

G

retrotransposon Gag like 10

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:51,338,134...51,342,383

G

reticulon 4 receptor

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:51,579,043...51,603,180
Ensembl chr14:51,579,046...51,602,968

G

scavenger receptor class F member 2

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:50,813,161...50,824,434
Ensembl chr14:50,812,984...50,824,521

G

stromal cell derived factor 2 like 1

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr14:50,249,607...50,251,636
Ensembl chr14:50,246,710...50,251,642

G

septin 5

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:51,252,815...51,260,851
Ensembl chr14:51,252,815...51,261,244

G

serpin family D member 1

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:50,427,121...50,436,470
Ensembl chr14:50,427,115...50,436,468

G

solute carrier family 25 member 1

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:50,974,616...51,002,970
Ensembl chr14:50,974,617...50,978,039

G

solute carrier family 7 member 4

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:31690835 PMID:32581362

NCBI chr14:50,631,693...50,638,381
Ensembl chr14:50,633,878...50,637,404

G

synaptosome associated protein 29

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:50,492,187...50,511,475
Ensembl chr14:50,492,187...50,511,456

G

sperm antigen with calponin homology and coiled-coil domains 1 like

ClinVar Annotator: match by term: Autosomal dominant Opitz G/BBB syndrome

PMID:25741868 PMID:28492532

NCBI chr14:49,332,937...49,463,965
Ensembl chr14:49,333,009...49,463,963

G

transport and golgi organization 2 homolog

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:51,443,597...51,464,370
Ensembl chr14:51,443,638...51,464,367

G

T-box transcription factor 1

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge Syndrome | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndrome
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Autosomal dominant Opitz G/BBB syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge Syndrome | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndrome
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndrome

PMID:9536098 PMID:11239417 PMID:11242049 PMID:11748311 PMID:14585638 More...

NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725

G

transforming growth factor beta receptor 2

OMIM:188400

NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160

G

THAP domain containing 7

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:31690835 PMID:32581362

NCBI chr14:50,591,412...50,593,778
Ensembl chr14:50,591,410...50,594,105

G

transmembrane protein 191C

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr14:50,378,957...50,383,573

G

DNA topoisomerase III beta

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr14:50,020,412...50,037,854
Ensembl chr14:50,020,509...50,037,856

G

tumor protein p53

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

G

tRNA methyltransferase 2 homolog A

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:51,489,889...51,494,204
Ensembl chr14:51,489,892...51,494,190

G

testis specific serine kinase 2

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:50,943,017...50,944,093
Ensembl chr14:50,943,017...50,944,093

G

tubulin alpha 8

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr 5:70,154,251...70,174,001
Ensembl chr 5:70,153,922...70,179,970

G

thioredoxin reductase 2

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:51,355,731...51,385,096
Ensembl chr14:51,356,831...51,383,262

G

ubiquitin conjugating enzyme E2 L3

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr14:50,265,102...50,315,409

G

ubiquitin recognition factor in ER associated degradation 1

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:51,113,858...51,132,820
Ensembl chr14:51,113,713...51,133,072

G

ubiquitin specific peptidase 18

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr 5:70,183,321...70,227,990
Ensembl chr 5:70,183,308...70,229,572

G

vascular endothelial growth factor A

OMIM:188400

NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366

G

V-set pre-B cell surrogate light chain 1

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr14:49,972,058...49,972,768
Ensembl chr14:49,970,340...49,972,741

G

YdjC chitooligosaccharide deacetylase homolog

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr14:50,260,813...50,262,553
Ensembl chr14:50,260,788...50,262,550

G

yippee like 1

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr14:50,190,641...50,208,732
Ensembl chr14:50,190,798...50,208,256

G

zinc finger DHHC-type palmitoyltransferase 8

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:51,503,074...51,517,577
Ensembl chr14:51,503,114...51,516,885

G

zinc finger protein 366

OMIM:188400

NCBI chr16:48,708,604...49,048,767
Ensembl chr16:48,708,610...48,780,941

G

zinc finger protein 74

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr14:50,840,500...50,869,945
Ensembl chr14:50,840,510...50,869,489

Digeorge Syndrome/Velocardiofacial Syndrome Complex 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nebulette

ClinVar Annotator: match by term: DiGeorge syndrome/velocardiofacial syndrome complex 2

PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 More...

NCBI chr10:53,602,929...53,957,869
Ensembl chr10:53,602,936...53,958,047

distal 10q deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase domain 12

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:135,302,188...135,682,144
Ensembl chr14:135,302,813...135,682,159

G

ADAM metallopeptidase domain 8

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:141,221,177...141,233,728
Ensembl chr14:141,221,198...141,232,306

G

adhesion G protein-coupled receptor A1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:141,093,230...141,118,145
Ensembl chr14:141,093,225...141,118,147

G

BCL2 interacting protein 3

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:140,362,123...140,371,951
Ensembl chr14:140,362,127...140,371,907

G

chromosome 14 C10orf90 homolog

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:135,718,618...135,954,019
Ensembl chr14:135,719,351...135,953,846

G

calcyon neuron specific vesicular protein

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:141,307,092...141,316,460
Ensembl chr14:141,307,684...141,316,292

G

cilia and flagella associated protein 46

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:140,916,089...141,002,805
Ensembl chr14:140,916,092...141,002,708

G

clarin 3

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:137,063,671...137,089,827
Ensembl chr14:137,069,384...137,089,197

G

cytochrome P450 family 2 subfamily E member 1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817

G

DEAH-box helicase 32 (putative)

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:135,143,097...135,197,367
Ensembl chr14:135,139,857...135,197,316

G

dedicator of cytokinesis 1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:136,199,747...136,745,488
Ensembl chr14:136,257,807...136,741,882

G

dihydropyrimidinase like 4

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:140,497,457...140,511,740
Ensembl chr14:140,497,457...140,511,733

G

EBF transcription factor 3

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:138,819,846...138,935,504
Ensembl chr14:138,819,848...138,935,462

G

enoyl-CoA hydratase, short chain 1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,339,364...141,348,994

G

fibronectin type III and ankyrin repeat domains 1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:135,197,420...135,309,607
Ensembl chr14:135,197,450...135,302,516

G

forkhead box I2

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:136,986,882...136,988,565
Ensembl chr14:136,986,720...136,989,551

G

fucose mutarotase

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:141,331,801...141,336,628
Ensembl chr14:141,331,810...141,336,633

G

glutaredoxin 3

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:139,072,554...139,108,063
Ensembl chr14:139,072,575...139,111,249

G

inositol polyphosphate-5-phosphatase A

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:140,736,729...140,895,943
Ensembl chr14:140,736,734...140,895,937

G

inhibitory synaptic factor 2A

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:136,421,481...136,465,414
Ensembl chr14:136,420,546...136,459,137

G

Janus kinase and microtubule interacting protein 3

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:140,397,146...140,495,317
Ensembl chr14:140,397,188...140,493,774

G

kinase non-catalytic C-lobe domain containing 1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:141,132,374...141,188,343
Ensembl chr14:141,132,350...141,188,342

G

leucine rich repeat containing 27

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:140,599,285...140,627,819
Ensembl chr14:140,599,384...140,627,797

G

O-6-methylguanine-DNA methyltransferase

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540

G

marker of proliferation Ki-67

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:137,266,622...137,296,312

G

mitochondrial ribosome associated GTPase 1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:141,372,244...141,384,314
Ensembl chr14:141,372,246...141,384,315

G

NK6 homeobox 2

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:140,895,622...140,899,114
Ensembl chr14:140,897,874...140,899,155

G

neuropeptide S

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:136,835,630...136,839,511
Ensembl chr14:136,836,352...136,839,510

G

polyamine oxidase

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:141,360,509...141,369,642
Ensembl chr14:141,360,608...141,369,641

G

proline rich acidic protein 1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:141,325,965...141,329,955

G

protein tyrosine phosphatase receptor type E

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:137,101,449...137,264,245
Ensembl chr14:137,101,555...137,264,238

G

PWWP domain containing 2B

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:140,635,806...140,657,675
Ensembl chr14:140,636,964...140,657,623

G

shadow of prion protein

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:141,384,454...141,389,288
Ensembl chr14:141,386,868...141,387,314

G

serine/threonine kinase 32C

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:140,512,505...140,596,134
Ensembl chr14:140,512,451...140,591,686

G

synaptonemal complex central element protein 1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:141,726,708...141,737,830
Ensembl chr14:141,726,208...141,735,919

G

transcription elongation regulator 1 like

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:139,774,084...139,957,273
Ensembl chr14:139,774,199...139,954,817

G

tubulin gamma complex component 2

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:141,233,854...141,253,377
Ensembl chr14:141,233,856...141,253,359

G

undifferentiated embryonic cell transcription factor 1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:141,190,170...141,193,409

G

VENT homeobox

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:141,265,966...141,271,379

G

zinc finger protein 511

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr14:141,253,373...141,263,226
Ensembl chr14:141,253,368...141,261,064

Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 5

ClinVar Annotator: match by term: ABCA5-related condition | ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis

PMID:24831815 PMID:25741868 PMID:28492532

NCBI chr12:11,018,692...11,152,916
Ensembl chr12:11,067,500...11,152,688

hereditary nonpolyposis colorectal cancer type 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

epithelial cell adhesion molecule

ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 8

PMID:16951683 PMID:19098912 PMID:21145788 PMID:21309036 PMID:23462293 More...

NCBI chr 3:93,169,800...93,185,221
Ensembl chr 3:93,168,852...93,185,653

Holoprosencephaly 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GLI family zinc finger 2

ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES

PMID:25741868 PMID:28492532

NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306

hypoparathyroidism-deafness-renal disease syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA binding domain containing 7

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:46,740,570...46,751,208
Ensembl chr10:46,740,585...46,750,606

G

aldo-keto reductase family 1, member C1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:65,580,297...65,594,998
Ensembl chr10:65,576,464...65,678,248

G

aldo-keto reductase family 1 member E2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:65,680,314...65,704,701
Ensembl chr10:65,680,332...65,702,190

G

ankyrin repeat domain 16

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:65,109,043...65,149,416
Ensembl chr10:65,109,086...65,122,186

G

ADP ribosylation factor like GTPase 5B

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:55,675,129...55,700,389
Ensembl chr10:55,675,138...55,700,305

G

ankyrin repeat and SOCS box containing 13

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:65,274,476...65,302,345
Ensembl chr10:65,275,532...65,303,223

G

ATP synthase F1 subunit gamma

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:63,584,288...63,599,537
Ensembl chr10:63,583,695...63,599,453

G

BEN domain containing 7

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:48,177,594...48,264,083
Ensembl chr10:48,177,762...48,262,051

G

complement C1q like 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:45,357,247...45,368,901
Ensembl chr10:45,359,461...45,368,803

G

calcium voltage-gated channel auxiliary subunit beta 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:44,321,954...44,887,410
Ensembl chr10:44,421,485...44,886,425

G

calmodulin like 5

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:65,405,928...65,407,306
Ensembl chr10:65,406,633...65,407,082

G

calcium/calmodulin dependent protein kinase ID

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:59,199,541...59,630,191
Ensembl chr10:59,204,724...59,630,285

G

cell division cycle 123

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:59,718,340...59,765,621
Ensembl chr10:59,718,340...59,765,621

G

cerebral dopamine neurotrophic factor

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:46,935,530...46,963,926

G

CUGBP Elav-like family member 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:60,504,925...60,867,631
Ensembl chr10:60,506,504...61,084,960

G

cubilin

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:43,102,931...43,414,692
Ensembl chr10:43,102,946...43,414,758

G

DNA cross-link repair 1C

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:46,820,016...46,863,848
Ensembl chr10:46,820,053...46,868,028

G

dehydrogenase E1 and transketolase domain containing 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:59,820,418...59,875,322
Ensembl chr10:59,820,423...59,875,290

G

enoyl-CoA hydratase domain containing 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:60,117,425...60,138,662
Ensembl chr10:60,117,433...60,138,588

G

family with sequence similarity 107 member B

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:47,140,776...47,223,386

G

family with sequence similarity 171 member A1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:46,449,781...46,601,093
Ensembl chr10:46,449,781...46,601,087

G

F-box DNA helicase 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:65,060,714...65,108,975
Ensembl chr10:65,060,312...65,108,379

G

FERM domain containing 4A

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:47,384,867...48,048,948
Ensembl chr10:47,384,861...48,049,706

G

GATA binding protein 3

ClinVar Annotator: match by term: GATA3-related condition | ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

PMID:9536098 PMID:10935639 PMID:11389161 PMID:14985365 PMID:15705923 More...

NCBI chr10:63,367,684...63,397,977
Ensembl chr10:63,367,663...63,388,859

G

GDP dissociation inhibitor 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:65,160,700...65,196,447
Ensembl chr10:65,160,653...65,196,447

G

3-hydroxyacyl-CoA dehydratase 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:43,901,590...43,929,441
Ensembl chr10:43,897,162...43,929,409

G

heat shock protein family A (Hsp70) member 14

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:46,908,161...46,935,323
Ensembl chr10:46,904,311...46,935,280
Ensembl chr10:46,904,311...46,935,280

G

interleukin 15 receptor subunit alpha

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:65,022,227...65,054,385

G

interleukin 2 receptor subunit alpha

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:64,948,149...65,001,320
Ensembl chr10:64,948,563...65,001,142

G

integrin subunit alpha 8

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:46,132,887...46,303,659
Ensembl chr10:46,132,913...46,303,343

G

inter-alpha-trypsin inhibitor heavy chain 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:63,635,206...63,672,200
Ensembl chr10:63,635,210...63,672,163

G

inter-alpha-trypsin inhibitor heavy chain 5

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:63,688,416...63,764,566
Ensembl chr10:63,688,427...63,767,118

G

Kin17 DNA and RNA binding protein

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:63,599,612...63,634,844
Ensembl chr10:63,599,632...63,631,001

G

coiled-coil domain-containing protein 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:59,052,979...59,144,791
Ensembl chr10:59,052,915...59,144,797

G

putative methyltransferase NSUN6

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:44,884,179...44,958,024
Ensembl chr10:44,891,257...44,958,004

G

minichromosome maintenance 10 replication initiation factor

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:48,481,292...48,523,921
Ensembl chr10:48,480,705...48,538,952

G

meiosis/spermiogenesis associated 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:46,771,820...46,800,955
Ensembl chr10:46,786,841...46,800,323

G

MINDY lysine 48 deubiquitinase 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:45,980,088...46,062,700
Ensembl chr10:45,980,111...46,062,700

G

neuroepithelial cell transforming 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:65,428,013...65,438,346
Ensembl chr10:65,425,011...65,459,754

G

N-myristoyltransferase 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:46,647,167...46,722,519
Ensembl chr10:46,647,179...46,722,518

G

nudix hydrolase 5

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:59,765,444...59,787,773
Ensembl chr10:59,765,703...59,790,157

G

oleoyl-ACP hydrolase

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:46,752,241...46,770,881
Ensembl chr10:46,752,243...46,771,986

G

optineurin

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:48,532,029...48,582,952
Ensembl chr10:48,530,843...48,582,860

G

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:64,776,315...64,859,118
Ensembl chr10:64,776,315...64,802,287

G

phytanoyl-CoA 2-hydroxylase

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:48,404,298...48,423,978
Ensembl chr10:48,404,293...48,423,973

G

protein kinase C theta

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:64,442,588...64,596,528
Ensembl chr10:64,458,180...64,600,339

G

proline and serine rich 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:60,033,509...60,077,360
Ensembl chr10:60,033,531...60,058,496

G

pre-mRNA processing factor 18

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:48,062,229...48,122,222
Ensembl chr10:48,061,728...48,164,499

G

phosphotriesterase related

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:45,368,515...45,440,294
Ensembl chr10:45,362,928...45,440,215

G

RNA binding motif protein 17

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:64,886,433...64,909,006
Ensembl chr10:64,885,870...64,908,963

G

ribonuclease P/MRP subunit p38

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:46,720,135...46,725,962
Ensembl chr10:46,717,197...46,725,920

G

Ras suppressor protein 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:45,079,014...45,492,073
Ensembl chr10:45,079,007...45,289,422

G

SEC61 translocon subunit alpha 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:59,790,073...59,817,039
Ensembl chr10:59,773,852...59,817,010

G

selenophosphate synthetase 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:48,359,379...48,385,787
Ensembl chr10:48,362,463...48,386,431

G

Scm like with four mbt domains 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:63,877,033...64,070,867
Ensembl chr10:63,877,586...64,070,770

G

solute carrier family 39 member 12

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:44,239,279...44,320,974
Ensembl chr10:44,239,274...44,320,971

G

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:43,601,677...43,755,154
Ensembl chr10:43,602,908...43,755,277

G

signal transducing adaptor molecule

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:43,946,990...44,016,064
Ensembl chr10:43,947,011...44,016,056

G

SUV39H2 histone lysine methyltransferase

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:46,874,606...46,900,058
Ensembl chr10:46,873,126...46,900,040

G

TATA-box binding protein associated factor 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:63,422,184...63,576,400
Ensembl chr10:63,422,204...63,576,378

G

transcription activation suppressor family member 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:65,197,581...65,268,473
Ensembl chr10:65,197,584...65,252,646

G

tRNA aspartic acid methyltransferase 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:43,434,148...43,494,924
Ensembl chr10:43,434,444...43,493,892

G

tubulin alpha like 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:65,476,215...65,487,334
Ensembl chr10:65,476,227...65,488,116

G

upper zone of growth plate and cartilage matrix associated

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:48,460,713...48,471,213
Ensembl chr10:48,460,688...48,471,286

G

urocortin 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:65,491,231...65,495,879

G

UPF2 regulator of nonsense mediated mRNA decay

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:59,893,106...59,993,403
Ensembl chr10:59,898,922...60,090,229

G

USP6 N-terminal like

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:60,193,505...60,398,399
Ensembl chr10:60,241,016...60,391,642

G

vimentin

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:43,516,441...43,526,172
Ensembl chr10:43,517,307...43,526,170

hypotonia-cystinuria syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calmodulin-lysine N-methyltransferase

CTD Direct Evidence: marker/mechanism
OMIM:606407

NCBI chr 3:95,688,400...96,092,028
Ensembl chr 3:95,688,405...96,092,078

G

protein phosphatase, Mg2+/Mn2+ dependent 1B

CTD Direct Evidence: marker/mechanism

NCBI chr 3:96,237,660...96,317,278
Ensembl chr 3:96,221,873...96,317,247

G

prolyl endopeptidase like

CTD Direct Evidence: marker/mechanism

NCBI chr 3:96,092,314...96,159,533
Ensembl chr 3:96,092,334...96,159,525

G

solute carrier family 3 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:96,157,387...96,201,057
Ensembl chr 3:96,157,380...96,215,454

Jacobsen Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA dehydrogenase family member 8

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:60,807,405...60,828,379
Ensembl chr 9:60,807,486...60,828,389

G

acrosomal vesicle protein 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:52,803,378...52,809,975
Ensembl chr 9:52,803,381...52,809,975

G

ADAM metallopeptidase with thrombospondin type 1 motif 15

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:57,127,527...57,152,550
Ensembl chr 9:57,127,442...57,152,547

G

ADAM metallopeptidase with thrombospondin type 1 motif 8

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:57,090,313...57,113,077
Ensembl chr 9:57,090,617...57,110,414

G

amyloid beta precursor like protein 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:56,798,781...56,871,849
Ensembl chr 9:56,798,810...56,872,642

G

Rho GTPase activating protein 32

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:55,903,365...56,177,639
Ensembl chr 9:55,906,954...56,177,551

G

beta-1,3-glucuronyltransferase 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:60,995,280...61,020,300
Ensembl chr 9:60,995,277...61,020,103

G

BARX homeobox 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:56,261,394...56,340,992
Ensembl chr 9:56,261,658...56,340,983

G

coiled-coil domain containing 15

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:52,146,298...52,217,679
Ensembl chr 9:52,147,082...52,217,674

G

cell adhesion associated, oncogene regulated

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:53,079,543...53,178,881
Ensembl chr 9:53,079,550...53,178,881

G

checkpoint kinase 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:52,759,224...52,790,878
Ensembl chr 9:52,753,528...52,790,700

G

decapping enzyme, scavenger

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:53,400,750...53,437,161
Ensembl chr 9:53,400,755...53,437,548

G

DEAD-box helicase 25

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:53,029,450...53,044,088
Ensembl chr 9:53,029,790...53,044,383

G

EI24 autophagy associated transmembrane protein

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:52,704,560...52,724,966
Ensembl chr 9:52,704,570...52,720,938

G

endothelial cell adhesion molecule

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:51,983,019...51,992,415
Ensembl chr 9:51,983,023...51,992,393

G

ETS proto-oncogene 1, transcription factor

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:55,377,264...55,512,180
Ensembl chr 9:55,377,266...55,512,115

G

family with sequence similarity 118 member B

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:53,309,198...53,358,005
Ensembl chr 9:53,309,260...53,358,384

G

fasciculation and elongation protein zeta 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:52,621,175...52,672,660
Ensembl chr 9:52,621,183...52,672,660

G

Fli-1 proto-oncogene, ETS transcription factor

ClinVar Annotator: match by term: 11q partial monosomy syndrome | ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

PMID:15798196 PMID:24100448 PMID:25741868 PMID:28255014 PMID:28492532 More...

NCBI chr 9:55,612,905...55,749,784
Ensembl chr 9:55,612,901...55,749,778

G

FAD dependent oxidoreductase domain containing 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:53,365,260...53,372,955
Ensembl chr 9:53,365,250...53,372,952

G

galactosidase beta 1 like 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:60,954,513...60,993,584
Ensembl chr 9:60,954,524...60,993,588

G

galactosidase beta 1 like 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:60,917,137...60,940,461
Ensembl chr 9:60,918,345...60,940,093

G

hepatic and glial cell adhesion molecule

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:52,115,494...52,131,801
Ensembl chr 9:52,115,504...52,131,522

G

hepatocellular carcinoma, down-regulated 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:52,115,257...52,116,284

G

HYLS1 centriolar and ciliogenesis associated

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:53,008,944...53,027,307
Ensembl chr 9:53,013,348...53,028,551

G

immunoglobulin superfamily member 9B

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:60,467,321...60,521,463
Ensembl chr 9:60,478,029...60,521,465

G

junctional adhesion molecule 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:60,629,245...60,738,979
Ensembl chr 9:60,613,400...60,738,924

G

potassium inwardly rectifying channel subfamily J member 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:55,779,020...55,812,761
Ensembl chr 9:55,780,257...55,781,375

G

potassium inwardly rectifying channel subfamily J member 5

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:55,836,777...55,861,288
Ensembl chr 9:55,836,701...55,864,941

G

kirre like nephrin family adhesion molecule 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:53,493,735...54,066,490
Ensembl chr 9:53,491,991...53,664,072

G

olfactory receptor 8B3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:51,585,080...51,586,048

G

olfactory receptor 8B3-like

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:51,556,718...51,592,996

G

olfactory receptor 145

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:51,642,422...51,643,354
Ensembl chr 9:51,642,422...51,643,354

G

olfactory receptor 8B4-like

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:51,624,333...51,626,022
Ensembl chr 9:51,624,333...51,625,280

G

olfactory receptor 8B12-like

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:51,679,988...51,680,995

G

olfactory receptor 151-like

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:51,778,403...51,779,381

G

Myb/SANT DNA binding domain containing 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:51,997,144...52,029,532
Ensembl chr 9:51,997,151...52,028,776

G

non-SMC condensin II complex subunit D3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:60,712,416...60,785,907
Ensembl chr 9:60,712,421...60,785,901

G

nuclear factor related to kappaB binding protein

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:56,616,865...56,656,068
Ensembl chr 9:56,614,227...56,656,056

G

neurogranin

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:51,967,313...51,977,197
Ensembl chr 9:51,969,823...51,977,228

G

neurotrimin

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:57,965,751...58,967,534
Ensembl chr 9:58,743,504...58,968,355

G

opioid binding protein/cell adhesion molecule like

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:59,037,711...60,141,162
Ensembl chr 9:59,037,714...60,140,839

G

pannexin 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:51,854,148...51,860,330
Ensembl chr 9:51,853,949...51,861,331

G

prostate and testis expressed 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:52,913,965...52,916,716
Ensembl chr 9:52,914,551...52,916,806

G

prostate and testis expressed 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:52,929,553...52,933,348
Ensembl chr 9:52,930,887...52,933,470

G

prostate and testis expressed 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:52,956,357...52,959,538
Ensembl chr 9:52,956,331...52,958,342

G

PBX/knotted 1 homeobox 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:52,303,022...52,608,505
Ensembl chr 9:52,349,714...52,610,680

G

PR/SET domain 10

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:56,657,270...56,749,487
Ensembl chr 9:56,657,270...56,749,482

G

pseudouridine synthase 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:53,018,878...53,028,605
Ensembl chr 9:53,018,883...53,028,560

G

roundabout guidance receptor 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:52,065,043...52,081,764
Ensembl chr 9:52,065,499...52,081,625

G

roundabout guidance receptor 4

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:52,083,757...52,097,784
Ensembl chr 9:52,083,760...52,097,736

G

RNA pseudouridine synthase D4

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:53,295,854...53,309,192
Ensembl chr 9:53,296,538...53,309,180

G

sialic acid acetylesterase

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:51,879,220...51,918,974
Ensembl chr 9:51,879,224...51,918,827

G

solute carrier family 37 member 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:52,237,023...52,274,124
Ensembl chr 9:52,237,420...52,272,692

G

sorting nexin 19

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:57,509,186...57,558,361
Ensembl chr 9:57,510,486...57,558,339

G

sperm autoantigenic protein 17

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:51,918,916...51,931,459
Ensembl chr 9:51,918,916...51,931,759

G

spermatogenesis associated 19

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:60,426,620...60,433,458
Ensembl chr 9:60,426,621...60,433,458

G

SRP receptor subunit alpha

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:53,358,522...53,365,085
Ensembl chr 9:53,358,534...53,365,653

G

ST14 transmembrane serine protease matriptase

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:56,888,246...56,929,771
Ensembl chr 9:56,888,246...56,929,767

G

ST3 beta-galactoside alpha-2,3-sialyltransferase 4

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:53,442,795...53,491,847
Ensembl chr 9:53,445,591...53,486,010

G

STT3 oligosaccharyltransferase complex catalytic subunit A

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:52,726,794...52,754,671
Ensembl chr 9:52,724,441...52,754,669

G

transforming growth factor beta regulator 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:51,865,312...51,878,259
Ensembl chr 9:51,865,327...51,878,432

G

thymocyte nuclear protein 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:60,802,925...60,807,404
Ensembl chr 9:60,802,928...60,807,409

G

TIR domain containing adaptor protein

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:53,374,559...53,394,172
Ensembl chr 9:53,375,644...53,394,165

G

transmembrane protein 218

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:52,270,691...52,302,766
Ensembl chr 9:52,260,508...52,302,638

G

transmembrane protein 45B

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:56,584,727...56,614,188
Ensembl chr 9:56,584,818...56,614,182

G

VPS26, retromer complex component B

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:60,786,192...60,802,507
Ensembl chr 9:60,785,998...60,805,193

G

V-set and immunoglobulin domain containing 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:51,974,577...51,982,884
Ensembl chr 9:51,977,460...51,982,054

G

zinc finger and BTB domain containing 44

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 9:56,947,145...57,018,803
Ensembl chr 9:56,947,391...57,017,791

Kleefstra syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 2

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

ATP binding cassette subfamily C member 9

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:21344641 PMID:22610116 PMID:23307537 PMID:25590979 PMID:25741868 More...

NCBI chr 5:51,536,531...51,673,583
Ensembl chr 5:51,536,526...51,691,595

G

ADAM metallopeptidase with thrombospondin type 1 motif 13

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 1:273,022,014...273,066,916
Ensembl chr 1:273,024,009...273,056,039

G

ADAMTS like 2

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 1:273,119,826...273,155,412
Ensembl chr 1:273,119,904...273,155,409

G

1-acylglycerol-3-phosphate O-acyltransferase 2

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

anaphase promoting complex subunit 2

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

arrestin domain containing 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

complement C8 gamma chain

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

calcium channel flower domain containing 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 1:273,045,620...273,066,916
Ensembl chr 1:273,056,532...273,066,914

G

calcium voltage-gated channel subunit alpha1 B

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

calmodulin regulated spectrin associated protein 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More...

G

caspase recruitment domain family member 9

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

coiled-coil domain containing 183

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

ciliary microtubule inner protein 2A

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

chloride intracellular channel 3

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

collagen type V alpha 1 chain

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,111

G

cysteine rich tail 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

dopamine beta-hydroxylase

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 1:273,204,407...273,225,562
Ensembl chr 1:273,204,175...273,225,552

G

divergent protein kinase domain 1B

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

DNL-type zinc finger

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

diphthamide biosynthesis 7

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

dipeptidyl peptidase 7

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

endothelial differentiation related factor 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

EGF like domain multiple 7

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

euchromatic histone lysine methyltransferase 1

ClinVar Annotator: match by term: EHMT1-related condition | ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:2663354 PMID:9536098 PMID:15805155 PMID:16199547 PMID:16826528 More...

G

ectonucleoside triphosphate diphosphohydrolase 2

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

ectonucleoside triphosphate diphosphohydrolase 8

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

endosome associated trafficking regulator 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

exonuclease 3'-5' domain containing 3

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

family with sequence similarity 163 member B

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 1:273,156,749...273,186,756
Ensembl chr 1:273,156,751...273,186,756

G

F-box and WD repeat domain containing 5

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin)

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 1:274,106,276...274,111,970
Ensembl chr 1:274,103,877...274,111,970

G

fucosyltransferase 7

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

glycosyltransferase 6 domain containing 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

G

G protein signaling modulator 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

glutamate ionotropic receptor NMDA type subunit 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

inositol polyphosphate-5-phosphatase E

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

potassium sodium-activated channel subfamily T member 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More...

G

lysine methyltransferase 2C

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:25741868 PMID:39013459

NCBI chr18:4,993,213...5,279,668
Ensembl chr18:4,993,227...5,278,723

G

lipocalin 10

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

lipocalin 12

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

lipocalin 15

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

lipocalin 6

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

lipocalin 9

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

G

LIM homeobox 3

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase-like

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

leucine rich repeat containing 26

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

MAM domain containing 4

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

microRNA mir-126

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

mitochondrial ribosomal protein L41

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

mitochondrial ribosomal protein S2

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

G

myomaker, myoblast fusion factor

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 1:273,101,674...273,111,721
Ensembl chr 1:273,101,678...273,111,727

G

NACC family member 2

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More...

G

NADPH dependent diflavin oxidoreductase 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

negative elongation factor complex member B

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

notch receptor 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

NADPH oxidase activator 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

neural proliferation, differentiation and control 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

nuclear receptor subfamily 1 group I member 3

ClinVar Annotator: match by term: Kleefstra syndrome 1

NCBI chr 4:89,226,314...89,231,781
Ensembl chr 4:89,226,690...89,236,431

G

NOTCH regulated ankyrin repeat protein

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

NMDA receptor synaptonuclear signaling and neuronal migration factor

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

odorant binding protein 2B

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 1:272,886,871...272,890,537

G

olfactomedin 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 1:274,236,241...274,261,322
Ensembl chr 1:274,224,454...274,261,328

G

progestagen associated endometrial protein

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:25741868 PMID:28492532 PMID:31209758

G

PAXX non-homologous end joining factor

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

phosphohistidine phosphatase 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

piercer of microtubule wall 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

G

peptidase, mitochondrial processing subunit alpha

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

patatin like phospholipase domain containing 7

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

protein phosphatase 1 regulatory subunit 26

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

G

prostaglandin D2 synthase

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

quiescin sulfhydryl oxidase 2

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

RAB, member RAS oncogene family like 6

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

REX4 homolog, 3'-5' exonuclease

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 1:273,011,736...273,021,956
Ensembl chr 1:273,011,734...273,021,938

G

ring finger protein 208

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

ring finger protein 224

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

retinoid X receptor alpha

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 1:273,698,842...273,797,622
Ensembl chr 1:273,705,505...273,797,620

G

suppressor APC domain containing 2

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

sarcosine dehydrogenase

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 1:273,230,357...273,295,170
Ensembl chr 1:273,230,375...273,294,621

G

SEC16 homolog A, endoplasmic reticulum export factor

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

solute carrier family 2 member 6

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 1:273,063,261...273,075,455
Ensembl chr 1:273,063,270...273,075,391

G

solute carrier family 34 member 3

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

small nuclear RNA activating complex polypeptide 4

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

spermatogenesis and oogenesis specific basic helix-loop-helix 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

G

SS nuclear autoantigen 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

serine/threonine kinase like domain containing 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 1:272,988,767...273,012,007
Ensembl chr 1:272,995,842...273,011,443

G

sperm-tail PG-rich repeat containing 3

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

SURF1 cytochrome c oxidase assembly factor

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 1:272,965,637...272,970,516
Ensembl chr 1:272,965,643...272,970,483

G

surfeit 2

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 1:272,970,522...272,976,188
Ensembl chr 1:272,970,548...272,975,293

G

surfeit 4

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 1:272,975,164...272,988,683
Ensembl chr 1:272,975,160...272,988,688

G

transmembrane protein 141

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

transmembrane protein 203

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

transmembrane protein 210

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

transmembrane protein 250

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More...

G

torsin family 4 member A

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

taperin

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

TNF receptor associated factor 2

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

tubulin beta 4B class IVb

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

G

UDP-N-acetylglucosamine pyrophosphorylase 1 like 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

G

UBA domain containing 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More...

G

vav guanine nucleotide exchange factor 2

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 1:273,303,142...273,476,250
Ensembl chr 1:273,303,144...273,476,207

G

WD repeat domain 5

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 1:273,560,274...273,577,827
Ensembl chr 1:273,560,283...273,578,063

G

zinc finger MYND-type containing 19

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

Koolen de Vries syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADP-ribosylation factor 2

ClinVar Annotator: match by term: Koolen-de Vries syndrome

NCBI chr12:17,432,594...17,447,976

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Koolen-de Vries syndrome

PMID:9043869 PMID:10817650 PMID:12815592 PMID:16238588 PMID:17124347 More...

NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552

G

chromosome 9 C11orf65 homolog

ClinVar Annotator: match by term: Koolen-de Vries syndrome

PMID:9043869 PMID:10817650 PMID:12815592 PMID:16238588 PMID:17124347 More...

NCBI chr 9:36,768,819...36,855,318
Ensembl chr 9:36,776,897...36,849,710

G

corticotropin releasing hormone receptor 1

ClinVar Annotator: match by term: Koolen-de Vries syndrome

PMID:18628315 PMID:21094706 PMID:28492532

NCBI chr12:17,251,361...17,306,308
Ensembl chr12:17,252,020...17,306,285

G

KAT8 regulatory NSL complex subunit 1

ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome | ClinVar Annotator: match by term: KANSL1-related condition | ClinVar Annotator: match by term: Koolen-de Vries syndrome

PMID:2544363 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18628315 More...

NCBI chr12:16,901,611...17,096,912
Ensembl chr12:16,903,450...17,096,916

G

microtubule associated protein tau

ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome | ClinVar Annotator: match by term: Koolen-de Vries syndrome

PMID:18628315 PMID:21094706 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr12:17,098,259...17,211,483
Ensembl chr12:17,095,587...17,211,373

G

signal peptide peptidase like 2C

ClinVar Annotator: match by term: Koolen-de Vries syndrome

PMID:18628315 PMID:21094706 PMID:28492532

NCBI chr12:17,238,339...17,245,060
Ensembl chr12:17,240,736...17,242,823

Miller-Dieker lissencephaly syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

diphthamide biosynthesis 1

OMIM:247200

NCBI chr12:48,146,364...48,157,436
Ensembl chr12:48,146,417...48,161,770

G

HIC ZBTB transcriptional repressor 1

OMIM:247200

NCBI chr12:48,167,861...48,172,540
Ensembl chr12:48,168,900...48,172,636

G

MAX network transcriptional repressor

OMIM:247200

NCBI chr12:48,469,230...48,486,737
Ensembl chr12:48,469,239...48,486,729

G

myosin IC

ClinVar Annotator: match by term: Miller Dieker syndrome

NCBI chr12:47,691,252...47,715,670
Ensembl chr12:47,691,256...47,718,337

G

platelet activating factor acetylhydrolase 1b regulatory subunit 1

OMIM:247200

NCBI chr12:48,567,329...48,735,836
Ensembl chr12:48,628,816...48,735,834

G

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

OMIM:247200

NCBI chr12:47,601,133...47,645,327
Ensembl chr12:47,600,745...47,645,301

Monosomy 7 Myelodysplasia and Leukemia Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sterile alpha motif domain-containing protein 9

ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 2

PMID:2569483 PMID:25741868 PMID:28346228 PMID:28487541 PMID:28492532 More...

NCBI chr 9:72,965,088...72,999,261
Ensembl chr 9:72,964,869...72,999,258

NFIA-related disorder

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nuclear factor I A

ClinVar Annotator: match by term: Brain malformations with or without urinary tract defects | ClinVar Annotator: match by term: Chromosome 1p32-p31 deletion syndrome | ClinVar Annotator: match by term: NFIA-related disorder

PMID:10518556 PMID:17530927 PMID:19058033 PMID:19763616 PMID:20673863 More...

NCBI chr 6:150,834,002...151,229,773
Ensembl chr 6:150,835,494...151,426,749

Phelan-McDermid syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acrosin

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:30,127...36,005
Ensembl chr 5:30,127...36,005

G

adrenomedullin 2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:254,397...255,478
Ensembl chr 5:253,396...255,601

G

ALG12 alpha-1,6-mannosyltransferase

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:716,928...727,239
Ensembl chr 5:717,028...729,397

G

Rho GTPase activating protein 8

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:4,399,874...4,450,505
Ensembl chr 5:4,399,744...4,450,465

G

arylsulfatase A

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:107,103...110,330
Ensembl chr 5:107,149...111,518

G

ataxin 10

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:3,637,794...3,798,204
Ensembl chr 5:3,637,111...3,798,201

G

bromodomain containing 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:774,307...808,016
Ensembl chr 5:770,654...808,006

G

cysteine rich DPF motif domain containing 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:3,287,043...3,295,842
Ensembl chr 5:3,292,022...3,296,307

G

ceramide kinase

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:2,818,738...2,870,200
Ensembl chr 5:2,818,784...2,870,195

G

choline kinase beta

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:151,638...155,176
Ensembl chr 5:151,638...155,176

G

ciliary microtubule associated protein 1B

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:215,972...217,973
Ensembl chr 5:215,967...217,974

G

collagen type IV alpha 5 chain

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr X:88,958,837...89,183,306
Ensembl chr X:88,958,849...89,183,372

G

carnitine palmitoyltransferase 1B

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:155,552...163,536
Ensembl chr 5:155,643...163,531

G

cysteine rich with EGF like domains 2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:709,042...716,766
Ensembl chr 5:709,045...716,771

G

DENN domain containing 6B

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:376,556...389,334
Ensembl chr 5:376,551...389,330

G

EF-hand calcium binding domain 6

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:5,166,994...5,408,130

G

family with sequence similarity 118 member A

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:4,065,393...4,102,584
Ensembl chr 5:4,070,701...4,101,287

G

fibulin 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:3,839,498...3,927,178
Ensembl chr 5:3,839,502...3,927,183

G

GRAM domain containing 4

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:2,873,466...2,947,804
Ensembl chr 5:2,873,428...2,947,785

G

G2 and S-phase expressed 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:3,227,813...3,246,679
Ensembl chr 5:3,227,816...3,242,789

G

histone deacetylase 10

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:439,142...445,337
Ensembl chr 5:439,808...445,334

G

interleukin 17 receptor E like

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:645,882...662,552
Ensembl chr 5:646,879...664,018

G

insulin

CTD Direct Evidence: therapeutic

NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841

G

KIAA0930

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:4,152,371...4,198,372
Ensembl chr 5:4,152,128...4,195,613

G

kelch domain containing 7B

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:202,137...203,951
Ensembl chr 5:202,137...203,951

G

lipase maturation factor 2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:233,601...238,266
Ensembl chr 5:233,401...238,266

G

cadherin EGF LAG seven-pass G-type receptor 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:3,114,410...3,203,378
Ensembl chr 5:2,980,351...3,203,381

G

rab-like protein 2A

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:104,510,606...104,525,994

G

mitogen-activated protein kinase 11

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:420,848...428,103
Ensembl chr 5:421,798...428,101

G

mitogen-activated protein kinase 12

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:429,635...437,970
Ensembl chr 5:429,770...437,975

G

mitogen-activated protein kinase 8 interacting protein 2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:120,575...131,060
Ensembl chr 5:120,580...130,939

G

malonyl-CoA-acyl carrier protein transacylase

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:5,742,190...5,750,193
Ensembl chr 5:5,742,185...5,751,456

G

myo-inositol oxygenase

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:249,312...251,547
Ensembl chr 5:248,235...251,553

G

microRNA mir-1249-1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:4,187,912...4,187,993
Ensembl chr 5:4,187,912...4,187,993

G

modulator of VRAC current 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:571,921...593,531
Ensembl chr 5:571,963...591,822

G

Mov10 like RNA helicase 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:509,868...567,429

G

metallophosphoesterase domain containing 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:5,417,939...5,496,494
Ensembl chr 5:5,417,833...5,486,726

G

non-SMC condensin II complex subunit H2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:222,784...233,491
Ensembl chr 5:221,471...233,475

G

nucleoporin 50

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:4,194,308...4,219,410
Ensembl chr 5:4,197,544...4,219,230

G

pannexin 2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:497,380...506,126
Ensembl chr 5:497,385...506,013

G

parvin beta

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:4,906,667...5,015,494
Ensembl chr 5:4,906,685...5,015,441

G

parvin gamma

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:4,874,343...4,899,508
Ensembl chr 5:4,873,153...4,898,647

G

PHD finger protein 21B

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:4,290,962...4,387,112
Ensembl chr 5:4,291,396...4,386,247

G

Pim-3 proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:677,705...680,690
Ensembl chr 5:677,705...680,695

G

polycystin family receptor for egg jelly

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:3,270,753...3,283,058

G

plexin B2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:390,347...416,805
Ensembl chr 5:403,765...416,798

G

patatin like phospholipase domain containing 3

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:5,075,608...5,092,599
Ensembl chr 5:5,075,622...5,092,515

G

peroxisome proliferator activated receptor alpha

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,741...3,364,239

G

protein phosphatase 6 regulatory subunit 2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:285,381...361,309
Ensembl chr 5:285,386...361,548

G

proline rich 5

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:4,467,231...4,525,610
Ensembl chr 5:4,467,232...4,525,588

G

RIB43A domain with coiled-coils 2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:3,966,339...3,976,024
Ensembl chr 5:3,966,440...3,975,830

G

retrotransposon Gag like 6

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:4,649,137...4,654,898
Ensembl chr 5:4,649,183...4,655,205

G

SAMM50 sorting and assembly machinery component

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:5,035,893...5,072,550
Ensembl chr 5:5,035,895...5,071,277

G

SET binding factor 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:260,779...284,512
Ensembl chr 5:260,935...284,509

G

synthesis of cytochrome C oxidase 2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:220,801...222,678
Ensembl chr 5:220,814...225,307

G

signal peptide, CUB domain and EGF like domain containing 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:5,561,479...5,692,339
Ensembl chr 5:5,561,505...5,692,328

G

selenoprotein O

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:467,546...480,836
Ensembl chr 5:467,547...481,230

G

SH3 and multiple ankyrin repeat domains 3

ClinVar Annotator: match by term: Phelan-McDermid syndrome

PMID:17173049 PMID:20301377 PMID:21062623 PMID:22892527 PMID:23758743 More...

NCBI chr 5:41,376...93,033
Ensembl chr 5:41,786...93,177

G

shisa like 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:4,767,436...4,849,333
Ensembl chr 5:4,771,417...4,849,326

G

structural maintenance of chromosomes 1B

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:3,976,098...4,067,148
Ensembl chr 5:3,976,140...4,067,395

G

sulfotransferase family 4A member 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:5,131,272...5,156,898
Ensembl chr 5:5,131,252...5,156,894

G

synaptonemal complex central element protein 3

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:168,908...201,037
Ensembl chr 5:181,056...200,832

G

TAFA chemokine like family member 5

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:1,413,030...1,569,951
Ensembl chr 5:1,414,144...1,569,846

G

TBC1 domain family member 22A

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:2,528,920...2,787,313
Ensembl chr 5:2,528,921...2,787,304

G

transcription factor 20

OMIM:606232

NCBI chr 5:6,430,217...6,534,948
Ensembl chr 5:6,484,365...6,528,172

G

TraB domain containing

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:485,464...494,574
Ensembl chr 5:485,475...494,534

G

tRNA mitochondrial 2-thiouridylase

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:3,208,122...3,224,382
Ensembl chr 5:3,208,118...3,224,366

G

translocator protein

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:5,723,190...5,735,097
Ensembl chr 5:5,723,190...5,735,131

G

tetratricopeptide repeat domain 38

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:3,248,342...3,270,815
Ensembl chr 5:3,248,346...3,270,778

G

TTL family tubulin polyglutamylase complex subunit L1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:5,793,760...5,827,622
Ensembl chr 5:5,793,780...5,827,633

G

tubulin tyrosine ligase like 12

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:5,687,895...5,719,003
Ensembl chr 5:5,701,583...5,720,724

G

tubulin tyrosine ligase like 8

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:594,614...645,705
Ensembl chr 5:602,886...629,882

G

tubulin gamma complex component 6

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:445,528...467,537
Ensembl chr 5:445,525...470,548

G

uroplakin 3A

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:4,109,985...4,122,272
Ensembl chr 5:4,109,938...4,119,289

G

Wnt family member 7B

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:3,521,412...3,572,322
Ensembl chr 5:3,521,288...3,572,314

G

zinc finger BED-type containing 4

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr 5:735,882...758,052
Ensembl chr 5:735,884...757,901

Rubinstein Taybi like Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ASXL transcriptional regulator 1

ClinVar Annotator: match by term: Rubinstein Taybi like syndrome

PMID:16412590 PMID:30806792

NCBI chr17:35,985,978...36,067,122
Ensembl chr17:35,985,535...36,067,119

G

lysine methyltransferase 2A

ClinVar Annotator: match by term: Rubinstein Taybi like syndrome

NCBI chr 9:45,743,566...45,828,559
Ensembl chr 9:45,743,397...45,824,884

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Rubinstein Taybi like syndrome

NCBI chr 5:15,049,827...15,091,622

Rubinstein-Taybi syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aconitase 2

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr 5:7,014,383...7,071,023
Ensembl chr 5:7,008,719...7,071,025

G

adenylate cyclase 9

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1

PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 More...

NCBI chr 3:38,117,211...38,303,600
Ensembl chr 3:38,103,923...38,303,538

G

adenylosuccinate lyase

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr 5:8,027,799...8,045,480
Ensembl chr 5:8,025,508...8,047,603

G

ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More...

NCBI chr 3:37,323,725...37,340,401

G

ankyrin repeat and sterile alpha motif domain containing 3

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More...

NCBI chr 3:37,664,182...37,689,502
Ensembl chr 3:37,650,256...37,689,500

G

apolipoprotein B mRNA editing enzyme catalytic subunit 3B

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr 5:9,098,676...9,115,965
Ensembl chr 5:9,097,719...9,116,369

G

activating transcription factor 4

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr 5:8,742,964...8,745,752
Ensembl chr 5:8,742,967...8,745,368

G

chromosome 3 C16orf89 homolog

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More...

NCBI chr 3:37,346,530...37,365,367
Ensembl chr 3:37,346,532...37,365,357

G

chromosome 3 C16orf90 homolog

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More...

NCBI chr 3:38,753,455...38,761,881

G

chromosome 3 C16orf96 homolog

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More...

NCBI chr 3:37,765,914...37,801,366

G

calcium voltage-gated channel subunit alpha1 I

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr 5:8,593,014...8,702,734
Ensembl chr 5:8,595,909...8,701,367

G

chromobox 7

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr 5:9,070,312...9,090,467
Ensembl chr 5:9,070,353...9,087,634

G

cell death inducing p53 target 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More...

NCBI chr 3:37,815,259...37,839,266
Ensembl chr 3:37,815,710...37,839,009

G

chondroadherin like

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr 5:7,246,892...7,258,962
Ensembl chr 5:7,248,444...7,253,170

G

clusterin associated protein 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More...

NCBI chr 3:38,716,562...38,753,743
Ensembl chr 3:38,716,431...38,753,748

G

CREB binding protein

ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: CREBBP-related condition | ClinVar Annotator: match by term: RUBINSTEIN SYNDROME | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1
ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

PMID:7630403 PMID:8967953 PMID:9536098 PMID:11331617 PMID:12070251 More...

NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224

G

dynein axonemal assembly factor 8

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More...

NCBI chr 3:37,652,535...37,665,497
Ensembl chr 3:37,652,539...37,665,474

G

DnaJ heat shock protein family (Hsp40) member A3

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More...

NCBI chr 3:37,883,233...37,919,141
Ensembl chr 3:37,883,244...37,919,324

G

DnaJ heat shock protein family (Hsp40) member B7

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

PMID:15706485 PMID:24476420 PMID:28492532

NCBI chr 5:7,574,729...7,576,224

G

deoxyribonuclease 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More...

NCBI chr 3:38,590,045...38,646,852
Ensembl chr 3:38,586,602...38,646,833

G

eukaryotic elongation factor 2 lysine methyltransferase

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More...

NCBI chr 3:37,310,915...37,324,705

G

ENTH domain containing 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr 5:8,451,589...8,553,527
Ensembl chr 5:8,447,873...8,552,925

G

E1A binding protein p300

ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: CREBBP-related condition | ClinVar Annotator: match by term: RUBINSTEIN-TAYBI SYNDROME 2 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: CREBBP-related condition | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

PMID:9536098 PMID:10700188 PMID:15706485 PMID:16199547 PMID:17299436 More...

NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760

G

family with sequence similarity 83 member F

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr 5:8,320,972...8,354,738
Ensembl chr 5:8,319,203...8,354,723

G

GLIS family zinc finger 2

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1

PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 More...

NCBI chr 3:37,998,072...38,018,726
Ensembl chr 3:37,998,078...38,009,024

G

glyoxylate reductase 1 homolog

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More...

NCBI chr 3:37,555,357...37,593,492
Ensembl chr 3:37,555,394...37,593,559

G

GRB2 related adaptor protein 2

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr 5:8,372,920...8,445,128
Ensembl chr 5:8,375,762...8,445,068

G

heme oxygenase 2

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More...

NCBI chr 3:37,829,044...37,868,163
Ensembl chr 3:37,831,439...37,868,128

G

L3MBTL histone methyl-lysine binding protein 2

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr 5:7,257,806...7,277,633
Ensembl chr 5:7,253,644...7,277,576

G

mitochondrial import inner membrane translocase subunit TIM16

ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More...

NCBI chr 3:37,928,098...38,005,619
Ensembl chr 3:37,928,096...37,985,151

G

olfactory receptor 2C1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More...

NCBI chr 3:38,831,184...38,834,678
Ensembl chr 3:38,832,911...38,833,849

G

zinc finger protein 75A

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More...

NCBI chr 3:38,867,998...38,893,678
Ensembl chr 3:38,825,782...38,893,681

G

melanin concentrating hormone receptor 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

PMID:15706485 PMID:24476420 PMID:28492532

NCBI chr 5:7,735,752...7,752,006
Ensembl chr 5:7,735,825...7,738,701

G

MEFV innate immunity regulator, pyrin

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More...

NCBI chr 3:38,934,573...38,948,609

G

beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr 5:8,777,964...8,807,144
Ensembl chr 5:8,777,965...8,807,100

G

mahogunin ring finger 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More...

NCBI chr 3:37,694,798...37,748,106
Ensembl chr 3:37,694,808...37,748,067

G

mitochondrial elongation factor 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr 5:8,748,171...8,762,087

G

myocardin related transcription factor A

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr 5:7,751,350...7,975,927
Ensembl chr 5:7,959,312...7,972,574

G

N-alpha-acetyltransferase 60, NatF catalytic subunit

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More...

NCBI chr 3:38,763,444...38,812,862
Ensembl chr 3:38,763,447...38,781,988

G

N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More...

NCBI chr 3:37,378,461...37,388,705
Ensembl chr 3:37,378,471...37,388,705

G

NLR family CARD domain containing 3

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More...

NCBI chr 3:38,673,590...38,719,188
Ensembl chr 3:38,687,967...38,710,938

G

NmrA like redox sensor 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More...

NCBI chr 3:37,871,868...37,879,373
Ensembl chr 3:37,871,995...37,881,113

G

nudix hydrolase 16 like 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More...

NCBI chr 3:37,684,206...37,694,653
Ensembl chr 3:37,684,207...37,693,652

G

pantothenate kinase 2

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

PMID:11479594 PMID:12510040 PMID:15659606 PMID:15834858 PMID:16272150 More...

NCBI chr17:31,797,604...31,844,301
Ensembl chr17:31,798,785...31,828,496

G

platelet derived growth factor subunit B

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

Ensembl chr 5:8,986,462...9,007,435

G

PHD finger protein 5A

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr 5:7,071,145...7,080,046
Ensembl chr 5:7,071,484...7,081,407

G

periplakin

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More...

NCBI chr 3:37,460,487...37,511,879
Ensembl chr 3:37,460,303...37,511,875

G

Ran GTPase activating protein 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr 5:7,210,974...7,240,965
Ensembl chr 5:7,211,010...7,241,003

G

ring-box 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

PMID:15706485 PMID:24476420 PMID:28492532

NCBI chr 5:7,500,492...7,515,388
Ensembl chr 5:7,500,490...7,515,370

G

rogdi atypical leucine zipper

ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More...

NCBI chr 3:37,592,982...37,600,004
Ensembl chr 3:37,591,815...37,602,112

G

ribosomal protein L3

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr 5:8,922,697...8,929,768
Ensembl chr 5:8,922,665...8,929,767

G

ribosomal protein S19 binding protein 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr 5:8,735,363...8,738,808
Ensembl chr 5:8,735,382...8,738,799

G

SEC14 like lipid binding 5

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More...

NCBI chr 3:37,397,110...37,443,128
Ensembl chr 3:37,397,120...37,443,234

G

septin 12

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More...

NCBI chr 3:37,604,669...37,617,336
Ensembl chr 3:37,606,716...37,627,196

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small G protein signaling modulator 3

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr 5:7,976,015...8,017,782
Ensembl chr 5:7,968,097...8,017,768

G

solute carrier family 25 member 17

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

PMID:15706485 PMID:24476420 PMID:28492532

NCBI chr 5:7,622,638...7,669,980
Ensembl chr 5:7,622,646...7,670,283

G

SLX4 structure-specific endonuclease subunit

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More...

NCBI chr 3:38,646,904...38,670,173
Ensembl chr 3:38,646,938...38,670,168

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small integral membrane protein 22

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More...

NCBI chr 3:37,599,574...37,601,316
Ensembl chr 3:37,599,576...37,601,086

G

sarcalumenin

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1

PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 More...

NCBI chr 3:38,073,379...38,111,936
Ensembl chr 3:38,073,562...38,111,932

G

ST13 Hsp70 interacting protein

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

PMID:15706485 PMID:24476420 PMID:28492532

NCBI chr 5:7,583,074...7,617,766
Ensembl chr 5:7,583,048...7,617,762

G

synaptogyrin 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr 5:8,870,641...8,902,267
Ensembl chr 5:8,870,645...8,902,270

G

TGF-beta activated kinase 1 (MAP3K7) binding protein 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr 5:8,827,363...8,852,814
Ensembl chr 5:8,826,840...8,852,776

G

TEF transcription factor, PAR bZIP family member

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr 5:7,119,354...7,135,171
Ensembl chr 5:7,119,359...7,144,498

G

transcription factor AP-4

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 More...

NCBI chr 3:38,043,735...38,060,820
Ensembl chr 3:38,050,308...38,060,817

G

trinucleotide repeat containing adaptor 6B

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr 5:8,052,434...8,311,811
Ensembl chr 5:8,063,985...8,311,429

G

transducer of ERBB2, 2

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr 5:7,086,397...7,098,643
Ensembl chr 5:7,086,651...7,098,637

G

TNF receptor associated protein 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1

PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 More...

NCBI chr 3:38,536,710...38,595,273
Ensembl chr 3:38,536,668...38,603,015

G

UBA like domain containing 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More...

NCBI chr 3:37,753,262...37,758,872
Ensembl chr 3:37,753,280...37,758,870

G

ubinuclein 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More...

NCBI chr 3:37,512,306...37,555,255
Ensembl chr 3:37,512,313...37,555,203

G

vasorin

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More...

NCBI chr 3:37,961,425...37,972,477
Ensembl chr 3:37,961,432...37,972,114

G

X-prolyl aminopeptidase 3

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

PMID:15706485 PMID:24476420 PMID:28492532

NCBI chr 5:7,530,993...7,582,981
Ensembl chr 5:7,530,999...7,582,961

G

zinc finger CCCH-type containing 7B

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr 5:7,148,624...7,201,429
Ensembl chr 5:7,148,627...7,201,059

G

zinc finger protein 174

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More...

NCBI chr 3:38,805,861...38,815,166
Ensembl chr 3:38,805,020...38,815,171

G

zinc finger protein 263

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More...

NCBI chr 3:38,906,153...38,952,663
Ensembl chr 3:38,906,162...38,913,851

G

zinc finger protein 500

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More...

NCBI chr 3:37,642,424...37,652,378

G

zinc finger protein 597

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More...

NCBI chr 3:38,788,447...38,798,609

SATB2-associated syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

general transcription factor IIIC subunit 3

ClinVar Annotator: match by term: Chromosome 2q32-q33 deletion syndrome

NCBI chr15:100,667,312...100,701,705
Ensembl chr15:100,667,323...100,701,664

G

SATB homeobox 2

ClinVar Annotator: match by term: Chromosome 2q32-q33 deletion syndrome | ClinVar Annotator: match by term: SATB2 associated disorder | ClinVar Annotator: match by term: SATB2-associated syndrome | ClinVar Annotator: match by term: SATB2-related disorder

PMID:9536098 PMID:16199547 PMID:17377962 PMID:17576681 PMID:21343628 More...

NCBI chr15:102,962,635...103,172,224
Ensembl chr15:102,964,417...103,158,232

Smith-Magenis syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium/calmodulin dependent serine protein kinase

ClinVar Annotator: match by term: Smith-Magenis Syndrome-like

PMID:25741868 PMID:27799067

NCBI chr X:37,166,973...37,535,723
Ensembl chr X:37,167,577...37,536,160

G

coiled-coil and C2 domain containing 1A

ClinVar Annotator: match by term: Smith-Magenis Syndrome-like

PMID:24026677 PMID:25741868 PMID:27799067 PMID:28492532 PMID:34205586

NCBI chr 2:65,235,757...65,252,481
Ensembl chr 2:65,235,758...65,252,506

G

glycine decarboxylase

ClinVar Annotator: match by term: Smith-Magenis Syndrome-like

PMID:25741868 PMID:27799067 PMID:28492532

NCBI chr 1:215,608,854...215,715,062
Ensembl chr 1:215,608,849...215,715,059

G

janus kinase and microtubule interacting protein 1

ClinVar Annotator: match by term: Smith-Magenis Syndrome-like

NCBI chr 8:4,472,852...4,613,986
Ensembl chr 8:4,492,389...4,612,204

G

lysine demethylase 5C

ClinVar Annotator: match by term: Smith-Magenis Syndrome-like

PMID:27799067 PMID:28492532

NCBI chr X:45,968,812...46,003,215
Ensembl chr X:45,968,814...46,003,215

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Smith-Magenis Syndrome-like

NCBI chr 5:15,049,827...15,091,622

G

mitogen-activated protein kinase kinase 2

ClinVar Annotator: match by term: Smith-Magenis Syndrome-like

NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,783...74,651,348

G

methyl-CpG binding protein 2

ClinVar Annotator: match by term: Smith-Magenis Syndrome-like

PMID:10854091 PMID:11055898 PMID:11738883 PMID:12111643 PMID:12966523 More...

NCBI chr X:124,735,523...124,789,063
Ensembl chr X:124,735,656...124,738,659

G

retinoic acid induced 1

ClinVar Annotator: match by term: RAI1-related condition | ClinVar Annotator: match by term: Smith-Magenis syndrome
ClinVar Annotator: match by term: Chromosome 17p11.2 deletion syndrome | ClinVar Annotator: match by term: Smith-Magenis syndrome

PMID:8841119 PMID:12652298 PMID:15788730 PMID:18414213 PMID:21857958 More...

NCBI chr12:60,751,159...60,854,710
Ensembl chr12:60,755,521...60,766,058

G

spermine synthase

ClinVar Annotator: match by term: Smith-Magenis syndrome

NCBI chr X:18,118,332...18,169,396
Ensembl chr X:18,118,256...18,169,390

G

sterol regulatory element binding transcription factor 1

ClinVar Annotator: match by term: Smith-Magenis syndrome

NCBI chr12:60,733,967...60,750,951
Ensembl chr12:60,733,907...60,751,267

G

transmembrane protein 127

ClinVar Annotator: match by term: Chromosome 17p11.2 deletion syndrome

PMID:9536098 PMID:16266984 PMID:17576681 PMID:20154675 PMID:25389632 More...

NCBI chr 3:46,966,858...47,017,659
Ensembl chr 3:46,966,892...46,978,810

G

target of myb1 like 2 membrane trafficking protein

ClinVar Annotator: match by term: Smith-Magenis syndrome

NCBI chr12:60,652,153...60,729,257
Ensembl chr12:60,652,189...60,729,259

G

zinc finger E-box binding homeobox 2

ClinVar Annotator: match by term: Smith-Magenis Syndrome-like

NCBI chr15:7,498,879...7,631,347
Ensembl chr15:7,499,026...7,632,655

Takao VCF Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

T-box transcription factor 1

ClinVar Annotator: match by term: Conotruncal anomaly face syndrome

PMID:14585638 PMID:15703190 PMID:17273972

NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725

thrombocytopenia-absent radius 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: Radial aplasia-thrombocytopenia syndrome

NCBI chr 4:99,930,343...99,948,056
Ensembl chr 4:99,930,345...99,968,412

G

ankyrin repeat domain 34A

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 4:99,377,555...99,382,322
Ensembl chr 4:99,378,714...99,382,810

G

ankyrin repeat domain 35

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 4:99,441,264...99,460,877
Ensembl chr 4:99,442,901...99,460,868

G

BCL9 transcription coactivator

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 4:99,970,388...100,058,291
Ensembl chr 4:99,970,394...100,058,164

G

CD160 molecule

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 4:99,579,891...99,585,808

G

chromodomain helicase DNA binding protein 1 like

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 4:100,264,963...100,425,728
Ensembl chr 4:100,264,968...100,425,692

G

flavin containing dimethylaniline monoxygenase 5

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 4:100,336,769...100,372,744
Ensembl chr 4:100,336,980...100,374,367

G

gap junction protein alpha 5

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 4:99,854,129...99,871,288
Ensembl chr 4:99,854,392...99,871,286

G

gap junction protein alpha 8

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 4:99,721,754...99,724,943
Ensembl chr 4:99,723,341...99,724,672

G

hemojuvelin BMP co-receptor

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 4:99,327,989...99,332,647
Ensembl chr 4:99,328,053...99,332,645

G

integrin subunit alpha 10

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 4:99,422,469...99,440,756
Ensembl chr 4:99,423,117...99,440,749

G

limb and CNS expressed 1 like

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 4:99,384,293...99,403,554
Ensembl chr 4:99,384,394...99,404,891

G

Golgi pH regulator

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 4:99,654,852...99,712,244

G

peptidyl-prolyl cis-trans isomerase A-like

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

G

nudix hydrolase 17

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 4:99,472,347...99,477,953
Ensembl chr 4:99,472,350...99,477,944

G

PDZ domain containing 1

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 4:99,625,085...99,657,170
Ensembl chr 4:99,625,080...99,657,161

G

peroxisomal biogenesis factor 11 beta

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:25741868 More...

NCBI chr 4:99,415,403...99,422,324

G

protein inhibitor of activated STAT 3

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 4:99,463,418...99,475,141
Ensembl chr 4:99,465,690...99,475,140

G

RNA polymerase III subunit C

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 4:99,480,213...99,494,137
Ensembl chr 4:99,479,372...99,494,142

G

RNA polymerase III subunit GL

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 4:99,362,945...99,380,299

G

protein kinase AMP-activated non-catalytic subunit beta 2

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 4:100,378,047...100,394,346
Ensembl chr 4:100,378,071...100,394,338

G

RNA binding motif protein 8A

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:9536098 PMID:16501574 PMID:17236129 PMID:17576681 PMID:20301781 More...

NCBI chr 4:99,408,422...99,411,964
Ensembl chr 4:99,408,466...99,413,492

G

ring finger protein 115

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 4:99,493,172...99,577,946
Ensembl chr 4:99,493,481...99,573,564

G

thioredoxin interacting protein

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 4:99,348,589...99,351,760
Ensembl chr 4:99,348,490...99,352,755

velocardiofacial syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apoptosis inducing factor mitochondria associated 3

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:50,562,611...50,576,273
Ensembl chr14:50,562,776...50,576,275

G

ARVCF delta catenin family member

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:51,403,215...51,440,036
Ensembl chr14:51,403,923...51,440,058

G

chromosome 14 C22orf39 homolog

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:51,106,984...51,112,385
Ensembl chr14:51,106,991...51,112,359

G

coiled-coil domain containing 188

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:51,517,669...51,520,622
Ensembl chr14:51,517,234...51,520,622

G

cell division cycle 45

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606

G

chordin

OMIM:192430

NCBI chr13:122,266,632...122,277,513
Ensembl chr13:122,266,626...122,277,645

G

claudin 5

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:51,161,490...51,162,382
Ensembl chr14:51,161,042...51,163,482

G

catechol-O-methyltransferase

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998

G

CRK like proto-oncogene, adaptor protein

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:50,528,950...50,558,664
Ensembl chr14:50,528,955...50,558,662

G

DiGeorge syndrome critical region gene 2

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:50,881,260...50,935,603
Ensembl chr14:50,877,872...50,935,564

G

DiGeorge syndrome critical region gene 6 like

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:51,644,840...51,657,368

G

DGCR8 microprocessor complex subunit

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:51,473,512...51,489,535
Ensembl chr14:51,469,178...51,489,529

G

endothelin receptor type A

OMIM:192430

NCBI chr 8:81,210,750...81,279,053
Ensembl chr 8:81,209,327...81,276,853

G

ess-2 splicing factor homolog

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:50,945,121...50,956,018
Ensembl chr14:50,945,122...50,955,983

G

gamma-glutamyltransferase 1

ClinVar Annotator: match by term: 22q11.2 deletion syndrome

NCBI chr14:49,618,737...49,638,054

G

G protein subunit beta 1 like

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:51,306,561...51,343,040
Ensembl chr14:51,305,039...51,343,029

G

glycoprotein Ib platelet subunit beta

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114

G

goosecoid homeobox 2

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:50,956,315...50,960,424
Ensembl chr14:50,957,991...50,960,193

G

histone cell cycle regulator

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:51,029,117...51,102,409
Ensembl chr14:51,029,126...51,102,409

G

kelch like family member 22

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:50,773,917...50,809,991
Ensembl chr14:50,773,964...50,809,986

G

proline dehydrogenase 1, mitochondrial

ClinVar Annotator: match by term: 22q11.2 deletion syndrome

NCBI chr14:51,624,919...51,644,467

G

leucine rich repeat containing 74B

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:50,602,524...50,623,367
Ensembl chr14:50,602,701...50,623,116

G

leucine zipper like post translational regulator 1

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397

G

mitogen-activated protein kinase 1

OMIM:192430

NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513

G

mediator complex subunit 15

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:50,703,010...50,759,310
Ensembl chr14:50,703,019...50,759,310

G

microRNA mir-1306

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:51,473,918...51,473,997
Ensembl chr14:51,473,918...51,473,997

G

microRNA mir-185

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:51,449,903...51,449,978
Ensembl chr14:51,449,903...51,449,978

G

mitochondrial ribosomal protein L40

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:51,102,900...51,105,769
Ensembl chr14:51,102,613...51,105,767

G

purinergic receptor P2X 6

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:50,595,876...50,633,536
Ensembl chr14:50,622,938...50,633,535

G

phosphatidylinositol 4-kinase alpha

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:50,390,416...50,491,983
Ensembl chr14:50,390,410...50,491,944

G

prickle planar cell polarity protein 1

OMIM:192430

NCBI chr 5:73,707,026...73,826,529
Ensembl chr 5:73,707,050...73,826,430

G

RAN binding protein 1

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:51,494,258...51,500,420
Ensembl chr14:51,494,359...51,500,417

G

retrotransposon Gag like 10

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:51,338,134...51,342,383

G

reticulon 4 receptor

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:51,579,043...51,603,180
Ensembl chr14:51,579,046...51,602,968

G

scavenger receptor class F member 2

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:50,813,161...50,824,434
Ensembl chr14:50,812,984...50,824,521

G

septin 5

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:51,252,815...51,260,851
Ensembl chr14:51,252,815...51,261,244

G

serpin family D member 1

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:50,427,121...50,436,470
Ensembl chr14:50,427,115...50,436,468

G

solute carrier family 25 member 1

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:50,974,616...51,002,970
Ensembl chr14:50,974,617...50,978,039

G

solute carrier family 7 member 4

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:50,631,693...50,638,381
Ensembl chr14:50,633,878...50,637,404

G

synaptosome associated protein 29

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:50,492,187...50,511,475
Ensembl chr14:50,492,187...50,511,456

G

transport and golgi organization 2 homolog

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:51,443,597...51,464,370
Ensembl chr14:51,443,638...51,464,367

G

T-box transcription factor 1

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Shprintzen VCF syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

PMID:9536098 PMID:11748311 PMID:15355425 PMID:16684884 PMID:17273972 More...

NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725

G

THAP domain containing 7

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:50,591,412...50,593,778
Ensembl chr14:50,591,410...50,594,105

G

trafficking protein particle complex subunit 10

OMIM:192430

NCBI chr13:206,936,311...207,013,112
Ensembl chr13:206,936,333...207,013,102

G

tRNA methyltransferase 2 homolog A

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:51,489,889...51,494,204
Ensembl chr14:51,489,892...51,494,190

G

testis specific serine kinase 2

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:50,943,017...50,944,093
Ensembl chr14:50,943,017...50,944,093

G

thioredoxin reductase 2

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:51,355,731...51,385,096
Ensembl chr14:51,356,831...51,383,262

G

ubiquitin recognition factor in ER associated degradation 1

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:51,113,858...51,132,820
Ensembl chr14:51,113,713...51,133,072

G

zinc finger DHHC-type palmitoyltransferase 8

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:51,503,074...51,517,577
Ensembl chr14:51,503,114...51,516,885

G

zinc finger protein 74

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr14:50,840,500...50,869,945
Ensembl chr14:50,840,510...50,869,489

WAGR syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

elongator acetyltransferase complex subunit 4

ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome

PMID:25741868 PMID:28492532

NCBI chr 2:29,006,456...29,230,092
Ensembl chr 2:29,004,987...29,230,077

G

paired box 6

ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome

PMID:9727514 PMID:10234503 PMID:12634864 PMID:12868034 PMID:15086958 More...

NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,978,287...29,001,200

G

WT1 transcription factor

ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: CHROMOSOME 11p13 DELETION SYNDROME | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome

PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More...

NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997

Williams-Beuren syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

abhydrolase domain containing 11

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 3:11,000,991...11,003,789
Ensembl chr 3:11,000,998...11,003,795

G

bromodomain adjacent to zinc finger domain 1B

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 3:10,761,461...10,843,918
Ensembl chr 3:10,761,499...10,843,840

G

BAF chromatin remodeling complex subunit BCL7B

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 3:10,850,347...10,887,485
Ensembl chr 3:10,850,354...10,869,288

G

BUD23 rRNA methyltransferase and ribosome maturation factor

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 3:10,960,037...10,973,084
Ensembl chr 3:10,960,069...10,973,081

G

claudin 3

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 3:11,019,073...11,020,102
Ensembl chr 3:11,019,073...11,020,102

G

claudin 4

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 3:11,039,711...11,053,930
Ensembl chr 3:11,039,706...11,053,925

G

CAP-Gly domain containing linker protein 2

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 3:11,419,446...11,505,417

G

discs large MAGUK scaffold protein 4

CTD Direct Evidence: marker/mechanism
OMIM:194050

NCBI chr12:52,550,138...52,574,021
Ensembl chr12:52,550,141...52,575,143

G

DnaJ heat shock protein family (Hsp40) member C30

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 3:10,951,173...10,959,935
Ensembl chr 3:10,955,877...10,959,916

G

eukaryotic translation initiation factor 4H

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 3:11,321,486...11,348,473
Ensembl chr 3:11,320,797...11,348,473

G

elastin

ClinVar Annotator: match by term: CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB | ClinVar Annotator: match by term: Williams syndrome | ClinVar Annotator: match by term: Williams-Beuren syndrome

PMID:10942104 PMID:25741868 PMID:28492532 PMID:31829210

NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897

G

FKBP prolyl isomerase family member 6 (inactive)

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 3:10,659,456...10,716,210
Ensembl chr 3:10,669,664...10,682,618

G

frizzled class receptor 3

maps to 2 Mb in chromosome band 7q11.23 deleted in WS

NCBI chr14:12,281,127...12,394,768
Ensembl chr14:12,281,155...12,390,530

G

frizzled class receptor 9

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 3:10,753,294...10,762,812
Ensembl chr 3:10,754,783...10,757,147

G

general transcription factor IIi

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 3:11,656,928...11,811,426
Ensembl chr 3:11,671,575...11,811,423

G

GTF2I repeat domain containing 1

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 3:11,538,183...11,654,795
Ensembl chr 3:11,538,314...11,654,770

G

linker for activation of T cells family member 2

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 3:11,353,213...11,372,100
Ensembl chr 3:11,352,548...11,372,101

G

LIM domain kinase 1

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 3:11,252,820...11,279,286
Ensembl chr 3:11,252,648...11,279,284

G

lysyl oxidase

OMIM:194050

NCBI chr 2:125,595,115...125,607,026
Ensembl chr 2:125,591,789...125,607,594

G

methyltransferase like 27

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 3:11,054,822...11,057,734
Ensembl chr 3:11,054,960...11,057,704

G

MLX interacting protein like

ClinVar Annotator: match by term: Williams syndrome

PMID:25741868 PMID:28492532

NCBI chr 3:10,898,675...10,934,257
Ensembl chr 3:10,898,670...10,934,048

G

neutrophil cytosolic factor 1

DNA:deletion

NCBI chr 3:11,820,367...11,834,394
Ensembl chr 3:11,820,266...11,839,354

G

NOP2/Sun RNA methyltransferase 5

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 3:10,632,670...10,642,063
Ensembl chr 3:10,632,677...10,642,061

G

RCC1 like

NCBI chr 3:11,915,540...11,948,711
Ensembl chr 3:11,915,600...11,948,715

G

replication factor C subunit 2

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 3:11,373,489...11,392,690
Ensembl chr 3:11,373,492...11,392,695

G

SRC proto-oncogene, non-receptor tyrosine kinase

OMIM:194050

NCBI chr17:40,470,970...40,524,862
Ensembl chr17:40,471,009...40,524,860

G

syntaxin 1A

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 3:10,974,127...10,991,846
Ensembl chr 3:10,974,127...10,991,873

G

transducin beta like 2

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 3:10,850,347...10,892,441
Ensembl chr 3:10,876,973...10,892,404

G

transmembrane protein 270

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 3:11,059,177...11,079,858
Ensembl chr 3:11,075,901...11,078,442

G

tripartite motif containing 50

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 3:10,647,690...10,655,345
Ensembl chr 3:10,647,690...10,656,417

G

VPS37D subunit of ESCRT-I

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 3:10,947,403...10,951,271
Ensembl chr 3:10,947,403...10,951,273

Wolf-Hirschhorn syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complexin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:197,876...231,721
Ensembl chr 8:197,882...205,371

G

C-terminal binding protein 1

ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome

PMID:25741868 PMID:28492532

NCBI chr 8:475,164...496,510
Ensembl chr 8:475,888...496,002

G

fibroblast growth factor receptor like 1

ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome

PMID:25741868 PMID:28492532

NCBI chr 8:365,367...378,384
Ensembl chr 8:365,181...378,375

G

leucine zipper and EF-hand containing transmembrane protein 1

ClinVar Annotator: match by term: Mental retardation, unusual facies, and intrauterine growth retardation | ClinVar Annotator: match by term: Wolf syndrome | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome

PMID:25741868 PMID:28492532

NCBI chr 8:898,178...926,500
Ensembl chr 8:898,181...926,593

G

msh homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:5,628,381...5,632,375
Ensembl chr 8:5,628,380...5,632,607

G

nuclear receptor binding SET domain protein 2

ClinVar Annotator: match by term: Mental retardation, unusual facies, and intrauterine growth retardation | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome

PMID:11252005 PMID:25741868 PMID:28492532 PMID:29760529 PMID:29892088 More...

NCBI chr 8:938,832...1,018,032
Ensembl chr 8:964,893...1,018,028

G

NUF2 component of NDC80 kinetochore complex

ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome

NCBI chr 4:87,162,873...87,194,193
Ensembl chr 4:87,162,818...87,194,170

Term paths to the root

Path 1
Term	Annotations
disease	15433
Pathological Conditions, Signs and Symptoms	12090
Pathologic Processes	7685
Chromosome Aberrations	2740
Aneuploidy	1895
Monosomy	1628
Chromosome 18 Mosaic Monosomy	0
Chromosome Deletion +	1628

paths to the root