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

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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 (1660)

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 5:64,288,339...64,338,596
Ensembl chr 5:64,289,295...64,414,637

G

ankyrin repeat domain containing 11

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

NCBI chr 5:64,047,188...64,229,582
Ensembl chr 5:64,047,175...64,229,077

G

adenine phosphoribosyltransferase

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

NCBI chr 5:64,563,154...64,565,537
Ensembl chr 5:64,563,192...64,565,445

G

BTG3 associated nuclear protein

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

NCBI chr 5:65,151,863...65,256,782
Ensembl chr 5:65,152,247...65,256,667

G

chromosome 5 C16orf95 homolog

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

NCBI chr 5:65,738,445...65,757,635

G

carbonic anhydrase 5A

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

NCBI chr 5:65,269,855...65,297,593
Ensembl chr 5:65,269,635...65,296,777

G

CBFA2/RUNX1 partner transcriptional co-repressor 3

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

NCBI chr 5:64,432,291...64,518,905
Ensembl chr 5:64,431,843...64,519,528

G

cadherin 15

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

NCBI chr 5:64,258,451...64,277,184
Ensembl chr 5:64,258,741...64,277,190

G

chromatin licensing and DNA replication factor 1

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

NCBI chr 5:64,566,035...64,570,361
Ensembl chr 5:64,566,043...64,570,748

G

copine 7

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

NCBI chr 5:63,951,547...63,978,389
Ensembl chr 5:63,951,549...63,978,601

G

cytosolic thiouridylase subunit 2

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

NCBI chr 5:64,640,389...64,647,298
Ensembl chr 5:64,640,389...64,647,215

G

cytochrome b-245 alpha chain

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

NCBI chr 5:64,692,865...64,701,056
Ensembl chr 5:64,692,123...64,704,893

G

F-box protein 31

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

NCBI chr 5:65,703,591...65,734,956
Ensembl chr 5:65,703,575...65,731,056

G

galactosamine (N-acetyl)-6-sulfatase

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

NCBI chr 5:64,534,194...64,562,169
Ensembl chr 5:64,534,131...64,562,169

G

interleukin 17C

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

NCBI chr 5:64,702,668...64,703,694
Ensembl chr 5:64,702,730...64,703,984

G

junctophilin 3

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

NCBI chr 5:65,445,329...65,530,288
Ensembl chr 5:65,451,050...65,530,294

G

kelch domain containing 4

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

NCBI chr 5:65,387,373...65,442,333
Ensembl chr 5:65,387,374...65,441,645

G

microtubule associated protein 1 light chain 3 beta

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

NCBI chr 5:65,669,553...65,683,445

G

mevalonate diphosphate decarboxylase

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

NCBI chr 5:64,683,146...64,691,576
Ensembl chr 5:64,682,276...64,691,073

G

PABPN1 like, cytoplasmic

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

NCBI chr 5:64,525,929...64,527,654

G

piezo type mechanosensitive ion channel component 1

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

NCBI chr 5:64,584,153...64,640,423
Ensembl chr 5:64,570,035...64,640,375

G

ring finger protein 166

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

NCBI chr 5:64,647,411...64,655,994
Ensembl chr 5:64,647,415...64,655,999

G

ribosomal protein L13

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

NCBI chr 5:63,978,424...63,980,698
Ensembl chr 5:63,978,424...63,980,603

G

solute carrier family 22 member 31

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

NCBI chr 5:64,254,330...64,258,295
Ensembl chr 5:64,255,239...64,259,186

G

solute carrier family 7 member 5

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

NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858

G

snail family transcriptional repressor 3

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

NCBI chr 5:64,661,122...64,668,589
Ensembl chr 5:64,661,190...64,667,690

G

trafficking protein particle complex subunit 2L

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

NCBI chr 5:64,529,186...64,534,090
Ensembl chr 5:64,530,746...64,534,035

G

zinc finger CCCH-type containing 18

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

NCBI chr 5:64,708,472...64,774,098
Ensembl chr 5:64,704,083...64,766,994

G

zinc finger CCHC-type containing 14

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

NCBI chr 5:65,611,032...65,667,162
Ensembl chr 5:65,611,026...65,664,923

G

zinc finger protein, FOG family member 1

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

NCBI chr 5:64,812,353...64,863,278

G

zinc finger protein 469

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

NCBI chr 5:64,887,534...64,903,553

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 7:20,696,659...20,735,362
Ensembl chr 7:20,700,144...20,727,410

G

acyl-CoA binding domain containing 6

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:13,836,665...14,043,996
Ensembl chr 7:13,836,667...14,044,156

G

angiopoietin like 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:20,919,192...20,945,140
Ensembl chr 7:20,919,214...20,940,792

G

ankyrin repeat domain 45

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 7:25,508,417...25,560,123
Ensembl chr 7:25,508,239...25,659,475

G

astrotactin 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:22,455,117...22,752,044
Ensembl chr 7:22,455,499...22,757,029

G

ATPase Na+/K+ transporting subunit beta 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:29,464,132...29,487,124
Ensembl chr 7:29,464,132...29,487,947

G

axonemal dynein light chain domain containing 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:20,375,973...20,480,886
Ensembl chr 7:20,383,249...20,480,823

G

basic leucine zipper nuclear factor 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:29,182,098...29,205,909
Ensembl chr 7:29,183,132...29,206,040

G

BMP/retinoic acid inducible neural specific 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:22,332,465...22,449,295
Ensembl chr 7:22,339,056...22,448,854

G

chromosome 7 C1orf105 homolog

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:26,490,012...26,561,542

G

calcium voltage-gated channel subunit alpha1 E

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:14,892,165...15,267,418
Ensembl chr 7:14,707,801...15,267,422

G

calcyclin binding protein

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 7:24,372,599...24,384,084
Ensembl chr 7:24,372,596...24,383,926

G

coiled-coil domain containing 181

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:29,136,183...29,173,753
Ensembl chr 7:29,141,746...29,173,753

G

centromere protein L

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 7:25,406,881...25,430,084
Ensembl chr 7:25,407,183...25,423,219

G

centrosomal protein 350

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:13,552,784...13,677,410
Ensembl chr 7:13,552,815...13,673,716

G

COP1 E3 ubiquitin ligase

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:23,320,483...23,565,093
Ensembl chr 7:23,277,209...23,563,397

G

aspartyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 7:25,378,705...25,406,975
Ensembl chr 7:25,378,705...25,406,947

G

DExH-box helicase 9

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:16,233,763...16,292,576
Ensembl chr 7:16,233,814...16,292,618

G

dynamin 3

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:26,569,708...27,024,939
Ensembl chr 7:26,574,453...27,024,759

G

coagulation factor V

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296

G

family with sequence similarity 163 member A

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:20,148,593...20,224,752
Ensembl chr 7:20,148,588...20,153,443

G

FAM20B glycosaminoglycan xylosylkinase

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:20,753,959...20,794,538
Ensembl chr 7:20,757,145...20,794,538

G

Fas ligand

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224

G

FIGNL1 interacting regulator of recombination and mitosis

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:28,792,037...28,835,647
Ensembl chr 7:28,796,078...28,835,564

G

flavin containing dimethylaniline monoxygenase 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:27,599,230...27,623,081
Ensembl chr 7:27,599,267...27,618,237

G

flavin containing dimethylaniline monoxygenase 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:27,634,624...27,659,111
Ensembl chr 7:27,634,900...27,659,037

G

flavin containing dimethylaniline monoxygenase 3

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:27,720,420...27,745,522
Ensembl chr 7:27,720,420...27,845,626

G

flavin containing dimethylaniline monoxygenase 4

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:27,529,034...27,596,467
Ensembl chr 7:27,568,438...27,596,350

G

glutamate-ammonia ligase

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:15,730,898...15,740,241
Ensembl chr 7:15,730,898...15,740,241

G

golgin, RAB6 interacting

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:28,220,679...28,241,035
Ensembl chr 7:28,221,064...28,241,012

G

G protein-coupled receptor 52

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 7:24,858,588...24,862,982
Ensembl chr 7:24,860,473...24,862,117

G

immediate early response 5

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:14,554,184...14,557,929
Ensembl chr 7:14,555,992...14,556,930

G

KIAA0040

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 7:24,201,130...24,235,716
Ensembl chr 7:24,235,021...24,235,323

G

KIAA1614

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:14,391,172...14,445,896
Ensembl chr 7:14,403,256...14,445,198

G

kinesin associated protein 3

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:28,581,855...28,739,327
Ensembl chr 7:28,593,425...28,739,272

G

kelch like family member 20

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 7:25,430,490...25,484,245
Ensembl chr 7:25,430,745...25,484,311

G

laminin subunit gamma 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:16,406,421...16,528,372
Ensembl chr 7:16,404,495...16,526,000

G

laminin subunit gamma 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:16,543,541...16,625,304
Ensembl chr 7:16,569,086...16,624,085

G

LIM homeobox 4

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:13,779,574...13,825,650
Ensembl chr 7:13,779,774...13,821,317

G

transmembrane epididymal protein 1-like

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:15,761,308...15,763,087

G

torsin-1A-interacting protein 2-like

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:13,411,955...13,453,366
Ensembl chr 7:13,414,910...13,435,161

G

methyltransferase 13, eEF1A N-terminus and K55

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:27,159,425...27,175,144

G

methyltransferase 18, RPL3 N3(tau)-histidine

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:28,835,753...28,838,512
Ensembl chr 7:28,837,350...28,838,447

G

microRNA mir-199-2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:26,812,766...26,812,824
Ensembl chr 7:26,812,735...26,812,838

G

microRNA mir-214

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:26,818,559...26,818,668
Ensembl chr 7:26,818,559...26,818,670

G

major histocompatibility complex, class I-related

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:14,521,735...14,531,296

G

maestro heat like repeat family member 9

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:27,799,722...27,898,885
Ensembl chr 7:27,800,009...27,898,869

G

mitochondrial ribosomal protein S14

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 7:24,342,371...24,368,519

G

myocilin

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:27,335,314...27,346,821
Ensembl chr 7:27,335,314...27,346,820

G

neutrophil cytosolic factor 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:16,914,629...16,946,370
Ensembl chr 7:16,904,031...16,945,372

G

NME/NM23 family member 7

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:29,201,273...29,464,072
Ensembl chr 7:29,206,307...29,463,467

G

nicotinamide nucleotide adenylyltransferase 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:16,626,213...16,819,681
Ensembl chr 7:16,631,116...16,805,457

G

NPHS2 stomatin family member, podocin

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:20,347,526...20,375,975
Ensembl chr 7:20,354,134...20,374,020

G

N-acetylneuraminate pyruvate lyase

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:16,186,693...16,226,658
Ensembl chr 7:16,192,005...16,224,033

G

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

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:28,520,322...28,543,846
Ensembl chr 7:28,524,761...28,544,379

G

pappalysin 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:22,769,594...23,038,458
Ensembl chr 7:22,772,715...23,036,517

G

phosphatidylinositol glycan anchor biosynthesis class C

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:26,548,894...26,551,702
Ensembl chr 7:26,550,524...26,551,417

G

peroxiredoxin 6

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 7:25,663,238...25,675,855
Ensembl chr 7:25,663,579...25,675,754

G

proline rich coiled-coil 2C

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:27,372,677...27,474,790
Ensembl chr 7:27,374,318...27,474,785

G

paired related homeobox 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:28,065,570...28,138,734
Ensembl chr 7:28,068,711...28,138,787

G

quiescin sulfhydryl oxidase 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:13,718,799...13,754,115
Ensembl chr 7:13,718,799...13,754,114

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 7:24,390,324...25,132,699
Ensembl chr 7:24,394,861...25,132,932

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 7:20,874,227...21,031,817
Ensembl chr 7:20,879,492...21,005,154

G

RAS protein activator like 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:21,243,984...21,591,932
Ensembl chr 7:21,222,089...21,591,973

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 7:25,265,836...25,312,417
Ensembl chr 7:25,233,235...25,305,174

G

regulator of G protein signaling 16

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:16,009,283...16,015,228
Ensembl chr 7:16,009,271...16,015,597

G

regulator of G protein signaling 8

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:16,053,946...16,081,661
Ensembl chr 7:16,053,946...16,080,388

G

regulator of G protein signaling like 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:15,739,709...15,985,528
Ensembl chr 7:15,740,928...15,872,257

G

ribonuclease L

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:15,978,055...16,001,604
Ensembl chr 7:15,856,151...16,001,569

G

SCY1 like pseudokinase 3

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:28,751,604...28,796,042
Ensembl chr 7:28,751,707...28,795,756

G

SEC16 homolog B, endoplasmic reticulum export factor

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:21,683,310...21,739,914
Ensembl chr 7:21,698,411...21,738,954

G

selectin E

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:28,888,503...28,898,787
Ensembl chr 7:28,888,197...28,898,786

G

selectin L

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:28,906,752...28,927,959
Ensembl chr 7:28,906,809...29,094,008

G

selectin P

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:28,956,428...28,997,266
Ensembl chr 7:28,958,486...28,996,313

G

serpin family C member 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 7:25,322,668...25,333,022
Ensembl chr 7:25,316,129...25,332,987

G

SHC binding and spindle associated 1 like

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:16,299,963...16,343,430
Ensembl chr 7:16,299,986...16,343,439

G

solute carrier family 19 member 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:29,094,341...29,114,319
Ensembl chr 7:29,094,101...29,113,249

G

solute carrier family 9 member C2 (putative)

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 7:25,553,745...25,659,461
Ensembl chr 7:25,508,239...25,659,475

G

SMG7 nonsense mediated mRNA decay factor

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:16,820,938...16,913,359
Ensembl chr 7:16,820,882...16,911,377

G

sterol O-acyltransferase 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:20,481,386...20,556,706
Ensembl chr 7:20,486,069...20,546,055

G

syntaxin 6

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:14,452,663...14,506,120
Ensembl chr 7:14,458,404...14,556,917

G

SUN domain containing ossification factor

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:26,375,414...26,410,001
Ensembl chr 7:26,376,990...26,464,125

G

tudor domain containing 5

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:20,259,940...20,348,014
Ensembl chr 7:20,261,630...20,348,650

G

testis expressed 35

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:21,202,638...21,213,926
Ensembl chr 7:21,203,226...21,212,163

G

TNF superfamily member 18

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 7:25,983,064...25,994,605
Ensembl chr 7:25,963,719...25,992,801

G

TNF superfamily member 4

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 7:25,883,297...25,909,608
Ensembl chr 7:25,883,251...25,906,892

G

tenascin N

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 7:24,246,481...24,342,686
Ensembl chr 7:24,230,930...24,308,520

G

tenascin R

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 7:23,721,227...24,125,183
Ensembl chr 7:24,019,095...24,122,530

G

torsin 1A interacting protein 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:13,452,808...13,501,392
Ensembl chr 7:13,452,949...13,501,307

G

torsin family 3 member A

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:20,737,733...20,754,368
Ensembl chr 7:20,738,161...20,750,635

G

vesicle associated membrane protein 4

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 7:27,278,200...27,303,499
Ensembl chr 7:27,278,231...27,302,225

G

xenotropic and polytropic retrovirus receptor 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:14,165,608...14,379,822
Ensembl chr 7:14,165,608...14,379,822

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 7:25,333,540...25,362,098
Ensembl chr 7:25,349,786...25,361,439

G

zinc finger protein 648

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 7:15,479,169...15,485,292
Ensembl chr 7:15,479,793...15,481,502

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 chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468

G

SIX homeobox 1

NCBI chr 8:35,676,705...35,679,534
Ensembl chr 8:35,676,479...35,679,534

G

T-box transcription factor 1

NCBI chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784

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 chr23:26,824,219...27,012,601
Ensembl chr23:26,823,479...27,010,908

G

biotinidase

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr23:27,037,640...27,069,544
Ensembl chr23:27,037,921...27,069,456

G

chromosome 20 C3orf20 homolog

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr20:4,778,660...4,856,887
Ensembl chr20:4,788,521...4,856,886

G

calpain 7

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr23:27,336,079...27,377,584
Ensembl chr23:27,336,843...27,378,606

G

coiled-coil domain containing 174

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr20:4,753,433...4,778,446
Ensembl chr20:4,753,542...4,776,032

G

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

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr20:4,268,670...4,281,624
Ensembl chr20:4,267,683...4,281,549

G

deleted in azoospermia like

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr23:26,194,061...26,212,506

G

diphthamide biosynthesis 3

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr23:26,522,367...26,529,808
Ensembl chr23:26,522,374...26,527,827

G

ELL associated factor 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr23:27,188,983...27,203,441
Ensembl chr23:27,159,751...27,203,558

G

EF-hand domain family member B

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr23:23,337,293...23,384,362
Ensembl chr23:23,335,956...23,384,193

G

fibulin 2

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr20:3,874,896...3,935,059
Ensembl chr20:3,874,896...3,934,717

G

FYVE, RhoGEF and PH domain containing 5

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr20:4,905,898...5,028,637
Ensembl chr20:4,906,800...5,027,537

G

polypeptide N-acetylgalactosaminyltransferase 15

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr23:26,555,160...26,603,549
Ensembl chr23:26,556,863...26,602,960

G

glutamate receptor interacting protein 2

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr20:4,618,702...4,677,040
Ensembl chr20:4,620,179...4,677,263

G

histone deacetylase 11

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr20:3,792,832...3,815,922
Ensembl chr20:3,792,693...3,837,192

G

lysine acetyltransferase 2B

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr23:23,166,722...23,242,447
Ensembl chr23:23,168,600...23,233,478

G

potassium voltage-gated channel subfamily H member 8

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr23:23,618,496...23,984,735
Ensembl chr23:23,623,031...23,985,414

G

2-hydroxyacyl-CoA lyase 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr23:27,069,676...27,188,247

G

LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr20:4,328,930...4,342,731
Ensembl chr20:4,329,038...4,342,859

G

methyltransferase 6, tRNA N3-cytidine

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr23:27,202,880...27,217,753
Ensembl chr23:27,202,875...27,334,010

G

mitochondrial ribosomal protein S25

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr20:5,141,812...5,152,507
Ensembl chr20:5,141,812...5,152,513

G

nuclear receptor subfamily 2 group C member 2

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr20:5,041,656...5,139,859
Ensembl chr20:5,052,232...5,133,721

G

nucleoporin 210

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr20:3,635,355...3,740,689
Ensembl chr20:3,636,476...3,721,971

G

oxidoreductase NAD binding domain containing 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr23:26,485,452...26,521,929
Ensembl chr23:26,485,866...26,522,086

G

phospholipase C like 2

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr23:25,814,392...25,999,666
Ensembl chr23:25,814,862...25,999,749

G

protein phosphatase 2C like domain containing 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr23:23,285,449...23,303,885
Ensembl chr23:23,285,452...23,305,086

G

RAB5A, member RAS oncogene family

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr23:23,303,650...23,333,571
Ensembl chr23:23,304,940...23,332,206

G

rabenosyn, RAB effector

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr20:5,157,758...5,197,740
Ensembl chr20:5,157,923...5,197,822

G

raftlin, lipid raft linker 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr23:26,272,103...26,472,610
Ensembl chr23:26,282,392...26,472,536

G

SATB homeobox 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr23:24,614,198...24,692,254
Ensembl chr23:24,593,489...24,690,977

G

SET domain containing 5

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr20:8,681,714...8,766,013
Ensembl chr20:8,683,738...8,732,674

G

SH3 domain binding protein 5

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr23:27,258,502...27,335,175
Ensembl chr23:27,202,875...27,334,010

G

solute carrier family 6 member 6

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr20:4,544,739...4,616,797
Ensembl chr20:4,531,771...4,620,605

G

TBC1 domain family member 5

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr23:25,206,825...25,758,026
Ensembl chr23:25,254,448...25,757,385

G

THUMP domain 3 tRNA guanosine methyltransferase

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr20:8,779,442...8,802,286
Ensembl chr20:8,779,442...8,802,215

G

transmembrane protein 43

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr20:4,281,815...4,298,634
Ensembl chr20:4,281,845...4,297,069

G

Wnt family member 7A

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr20:4,072,010...4,139,521
Ensembl chr20:4,073,929...4,139,436

G

XPC complex subunit, DNA damage recognition and repair factor

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr20:4,299,644...4,328,826
Ensembl chr20:4,300,386...4,328,768

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 chr 9:8,275,049...8,278,172
Ensembl chr 9:8,275,049...8,278,172

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 1:89,677,554...89,790,692
Ensembl chr 1:89,677,533...89,790,145

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 chr 7:35,123,417...35,130,349
Ensembl chr 7:35,117,209...35,129,134

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 chr 4:34,499,898...34,582,481
Ensembl chr 4:34,517,492...34,578,923

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 chr18:35,638,606...35,880,194
Ensembl chr18:35,639,011...36,024,005

G

paired box 6

ClinVar Annotator: match by term: 11p deletion syndrome

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

G

WT1 transcription factor

ClinVar Annotator: match by term: 11p deletion syndrome

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

NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000

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 chr22:30,545,991...30,557,199
Ensembl chr22:30,547,271...30,555,510

G

ALG11 alpha-1,2-mannosyltransferase

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

NCBI chr22:149,538...162,206
Ensembl chr22:151,641...162,512

G

ATPase copper transporting beta

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

NCBI chr22:162,474...225,599
Ensembl chr22:191,888...225,266

G

BORA aurora kinase A activator

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

NCBI chr22:26,880,351...26,906,226
Ensembl chr22:26,879,933...26,906,278

G

calcium binding protein 39 like

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

NCBI chr22:2,319,239...2,426,554
Ensembl chr22:2,354,884...2,460,857

G

coiled-coil domain containing 70

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

NCBI chr22:258,746...263,908
Ensembl chr22:258,880...259,563

G

cytidine and dCMP deaminase domain containing 1

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

NCBI chr22:2,443,459...2,489,147
Ensembl chr22:2,436,206...2,489,016

G

cytoskeleton associated protein 2

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

NCBI chr25:134,914...190,810
Ensembl chr25:135,586...150,835

G

CLN5 intracellular trafficking protein

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

NCBI chr22:30,568,572...30,575,890
Ensembl chr22:30,568,572...30,575,890

G

chondromodulin

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

NCBI chr22:9,745,959...9,792,663
Ensembl chr22:9,753,441...9,759,713

G

COMM domain containing 6

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

NCBI chr22:29,318,216...29,336,032
Ensembl chr22:29,318,231...29,336,062

G

cysteinyl leukotriene receptor 2

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

NCBI chr22:2,914,960...2,962,517
Ensembl chr22:2,917,514...2,918,551

G

dachshund family transcription factor 1

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

NCBI chr22:25,690,700...25,934,449
Ensembl chr22:25,726,597...25,934,550

G

diaphanous related formin 3

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

NCBI chr22:15,573,485...16,078,580
Ensembl chr22:15,573,629...16,079,031

G

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

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

NCBI chr22:26,908,502...26,935,368
Ensembl chr22:26,909,409...26,935,033

G

EBP like

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

NCBI chr22:2,116,588...2,137,935
Ensembl chr22:2,116,131...2,182,633

G

endothelin receptor type B

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

NCBI chr22:31,415,324...31,438,772
Ensembl chr22:31,417,308...31,437,587

G

family with sequence similarity 124 member A

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

NCBI chr22:786,588...809,284

G

F-box and leucine rich repeat protein 3

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

NCBI chr22:30,579,598...30,598,879
Ensembl chr22:30,581,474...30,598,886

G

fibronectin type III domain containing 3A

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

NCBI chr22:2,524,173...2,700,223
Ensembl chr22:2,526,381...2,700,780

G

integrator complex subunit 6

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

NCBI chr22:549,221...636,810
Ensembl chr22:549,179...636,523

G

integral membrane protein 2B

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

NCBI chr22:3,255,139...3,261,440
Ensembl chr22:3,255,631...3,261,433

G

potassium channel regulator

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

NCBI chr22:1,870,964...1,875,849

G

potassium channel tetramerization domain containing 12

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

NCBI chr22:30,506,906...30,508,782
Ensembl chr22:30,503,932...30,508,632

G

KLF transcription factor 12

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

NCBI chr22:27,695,017...28,264,813
Ensembl chr22:27,704,686...28,123,099

G

KLF transcription factor 5

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

NCBI chr22:27,163,179...27,185,241
Ensembl chr22:27,162,397...27,200,871

G

kelch like family member 1

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

NCBI chr22:24,190,862...24,554,451
Ensembl chr22:24,191,778...24,555,120

G

karyopherin subunit alpha 3

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

NCBI chr22:2,064,733...2,110,524
Ensembl chr22:2,064,731...2,108,414

G

LIM domain 7

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

NCBI chr22:29,415,374...29,619,215
Ensembl chr22:29,415,337...29,618,667

G

keratin-associated protein 6-2-like

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

NCBI chr31:25,744,080...25,745,146

G

heterogeneous nuclear ribonucleoprotein A1-like

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

NCBI chr27:9,641,849...9,642,889

G

lysophosphatidic acid receptor 6

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

NCBI chr22:3,110,797...3,112,973
Ensembl chr22:3,111,462...3,112,499

G

mediator complex subunit 4

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

NCBI chr22:3,396,276...3,411,037
Ensembl chr22:3,396,267...3,410,608

G

microRNA mir-15a

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

NCBI chr22:1,846,880...1,846,938
Ensembl chr22:1,846,866...1,846,960

G

microRNA mir-16-1

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

NCBI chr22:1,847,020...1,847,084
Ensembl chr22:1,847,007...1,847,093

G

motilin receptor

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

NCBI chr22:2,513,218...2,515,380
Ensembl chr22:2,513,218...2,515,380

G

MYC binding protein 2

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

NCBI chr22:30,614,692...30,874,173
Ensembl chr22:30,615,369...30,874,370

G

mitotic spindle organizing protein 1

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

NCBI chr22:26,862,454...26,880,213
Ensembl chr22:26,863,674...26,880,126

G

Nedd4 family interacting protein 2

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

NCBI chr22:32,723,052...32,789,409
Ensembl chr22:32,704,437...32,787,151

G

NIMA related kinase 3

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

NCBI chr25:118,558...130,901

G

NIMA related kinase 5

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

NCBI chr22:108,089...134,987

G

nudix hydrolase 15

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

NCBI chr22:3,416,702...3,424,607
Ensembl chr22:3,416,578...3,424,409

G

ORC ubiquitin ligase 1

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

NCBI chr22:32,006,441...32,047,609
Ensembl chr22:32,007,210...32,047,527

G

olfactomedin 4

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

NCBI chr22:10,053,494...10,075,759
Ensembl chr22:9,944,025...10,074,722

G

protocadherin 17

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

NCBI chr22:13,865,138...13,962,110
Ensembl chr22:13,865,900...13,958,405

G

protocadherin 20

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

NCBI chr22:17,150,498...17,156,091
Ensembl chr22:17,151,913...17,155,892

G

protocadherin 8

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

NCBI chr22:9,860,590...9,865,298
Ensembl chr22:9,860,827...9,865,412

G

protocadherin 9

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

NCBI chr22:21,326,040...22,212,847
Ensembl chr22:21,327,856...22,213,083

G

PHD finger protein 11

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

NCBI chr22:2,235,758...2,263,772

G

progesterone immunomodulatory binding factor 1

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

NCBI chr22:26,935,390...27,133,308
Ensembl chr22:26,936,567...27,133,308

G

POU class 4 homeobox 1

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

NCBI chr22:31,992,657...31,997,066

G

RB transcriptional corepressor 1

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

NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726

G

RNA binding motif protein 26

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

NCBI chr22:32,579,401...32,664,370
Ensembl chr22:32,581,825...32,664,714

G

RCC1 and BTB domain containing protein 1

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

NCBI chr22:2,183,089...2,230,748
Ensembl chr22:2,198,185...2,229,485

G

RCC1 and BTB domain containing protein 2

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

NCBI chr22:3,018,628...3,051,059
Ensembl chr22:3,018,137...3,051,269

G

ribonuclease H2 subunit B

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

NCBI chr22:944,399...1,010,479
Ensembl chr22:931,751...991,223

G

sciellin

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

NCBI chr22:30,874,267...31,171,598
Ensembl chr22:31,045,878...31,171,033

G

serpin family E member 3

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

NCBI chr22:637,600...666,028
Ensembl chr22:636,466...663,695

G

SET domain bifurcated histone lysine methyltransferase 2

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

NCBI chr22:2,263,990...2,319,249
Ensembl chr22:2,244,507...2,319,158

G

SLAIN motif family member 1

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

NCBI chr22:31,199,494...31,258,920
Ensembl chr22:31,199,533...31,258,021

G

SLIT and NTRK like family member 1

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

NCBI chr22:36,325,548...36,329,784
Ensembl chr22:36,326,751...36,328,841

G

SLIT and NTRK like family member 6

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

NCBI chr22:37,911,533...37,918,273
Ensembl chr22:37,912,612...37,925,177

G

sprouty RTK signaling antagonist 2

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

NCBI chr22:33,366,139...33,371,102
Ensembl chr22:33,366,931...33,367,878

G

SPRY domain containing 7

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

NCBI chr22:1,929,814...1,947,506
Ensembl chr22:1,849,634...1,945,276

G

succinate-CoA ligase ADP-forming subunit beta

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

NCBI chr22:3,440,908...3,478,683
Ensembl chr22:3,440,923...3,478,683

G

SGT1 homolog, MIS12 kinetochore complex assembly cochaperone

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

NCBI chr22:9,682,026...9,723,412
Ensembl chr22:9,682,169...9,722,979

G

TBC1 domain family member 4

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

NCBI chr22:29,109,079...29,175,357
Ensembl chr22:29,110,201...29,290,154

G

tudor domain containing 3

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

NCBI chr22:16,287,721...16,449,842
Ensembl chr22:16,288,473...16,444,635

G

thrombospondin type 1 domain containing 1

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

NCBI chr25:197,294...223,804
Ensembl chr25:201,301...223,560

G

tripartite motif containing 13

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

NCBI chr22:1,877,672...1,893,097
Ensembl chr22:1,871,181...1,910,055

G

ubiquitin C-terminal hydrolase L3

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

NCBI chr22:29,348,962...29,397,944
Ensembl chr22:29,348,706...29,407,965

G

vacuolar protein sorting 36 homolog

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

NCBI chr25:150,984...191,531
Ensembl chr25:150,150...191,544

G

WD repeat and FYVE domain containing 2

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

NCBI chr22:304,250...467,909
Ensembl chr22:304,884...428,223

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 3:38,243,086...38,431,491
Ensembl chr 3:38,243,102...38,430,887

G

ATPase phospholipid transporting 10A (putative)

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

PMID:25741868 PMID:31690835

NCBI chr 3:34,841,218...35,028,718
Ensembl chr 3:34,841,073...35,028,040

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 6:2,747,288...3,875,774
Ensembl chr 6:2,748,598...3,875,611

G

coiled-coil domain containing 92B

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

NCBI chr 9:46,766,991...46,799,043

G

cholinergic receptor nicotinic alpha 7 subunit

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

NCBI chr 3:36,852,082...37,164,930
Ensembl chr 3:36,852,543...36,978,399

G

clustered mitochondria homolog

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

NCBI chr 9:46,735,276...46,756,016
Ensembl chr 9:46,736,142...46,755,917

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 chr 3:32,096,471...32,170,107
Ensembl chr 3:32,097,037...32,187,781

G

endosomal transmembrane epsin interactor 2

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

NCBI chr 3:38,432,567...38,888,077
Ensembl chr 3:38,435,421...38,889,003

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 3:33,663,414...33,746,120
Ensembl chr 3:33,664,169...33,744,328

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 3:33,878,948...34,101,987
Ensembl chr 3:33,878,904...34,097,764

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 3:32,956,061...33,641,971
Ensembl chr 3:32,964,122...33,642,686

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 chr 3:31,723,113...31,966,061
Ensembl chr 3:31,723,500...31,966,199

G

nuclear envelope pore membrane protein POM 121-like

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

PMID:25741868 PMID:31690835

NCBI chr11:1,051,404...1,095,033

G

small nucleolar RNA SNORD115

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

PMID:25741868 PMID:31690835

G

small nucleolar RNA SNORD116

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

PMID:25741868 PMID:31690835

G

small nucleolar RNA SNORD115

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

PMID:25741868 PMID:31690835

G

small nucleolar RNA SNORD115

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

PMID:25741868 PMID:31690835

G

small nucleolar RNA SNORD115

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

PMID:25741868 PMID:31690835

G

small nucleolar RNA SNORD64

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

PMID:25741868 PMID:31690835

G

small nucleolar RNA SNORD108

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

PMID:25741868 PMID:31690835

G

small nucleolar RNA SNORD107

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

PMID:25741868 PMID:31690835

G

small nucleolar RNA SNORD109A

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

PMID:25741868 PMID:31690835

G

MAGE family member L2

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

PMID:25741868 PMID:31690835

NCBI chr 3:36,362,021...36,366,326
Ensembl chr 3:36,363,930...36,365,870

G

makorin ring finger protein 3

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

PMID:25741868 PMID:31690835

NCBI chr 3:36,411,945...36,419,307

G

necdin, MAGE family member

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

PMID:25741868 PMID:31690835

NCBI chr 3:36,313,977...36,315,661
Ensembl chr 3:36,314,104...36,315,081

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 chr 3:32,003,454...32,056,802
Ensembl chr 3:32,003,033...32,051,684

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 chr 3:32,051,313...32,095,379
Ensembl chr 3:32,062,708...32,094,491

G

NSE3 homolog, SMC5-SMC6 complex component

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

G

OCA2 melanosomal transmembrane protein

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

PMID:25741868 PMID:31690835

NCBI chr 3:32,361,825...32,713,631
Ensembl chr 3:32,361,517...32,713,572

G

OTU deubiquitinase 7A

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

NCBI chr 3:37,348,167...37,548,357
Ensembl chr 3:37,348,170...37,548,885

G

platelet activating factor acetylhydrolase 1b regulatory subunit 1

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

NCBI chr 9:46,648,057...46,731,259
Ensembl chr 9:46,648,052...46,771,400

G

RAP1 GTPase activating protein 2

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

NCBI chr 9:46,815,587...47,015,038
Ensembl chr 9:46,784,098...47,011,298

G

small nuclear ribonucleoprotein polypeptide N

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

PMID:25741868 PMID:31690835

NCBI chr 3:35,837,582...35,842,925
Ensembl chr 3:35,837,468...35,862,877

G

SNRPN upstream open reading frame

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

PMID:25741868 PMID:31690835

NCBI chr 3:35,842,792...35,862,944

G

tight junction protein 1

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

NCBI chr 3:38,997,122...39,076,617
Ensembl chr 3:38,997,076...39,241,574

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 chr 3:32,243,031...32,339,037
Ensembl chr 3:32,242,961...32,338,957

G

ubiquitin protein ligase E3A

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

PMID:25741868 PMID:31690835

NCBI chr 3:35,347,034...35,442,329
Ensembl chr 3:35,347,064...35,440,256

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 3:36,852,082...37,164,930
Ensembl chr 3:36,852,543...36,978,399

G

FANCD2 and FANCI associated nuclease 1

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

NCBI chr 3:38,013,744...38,053,096
Ensembl chr 3:38,013,739...38,052,202

G

KLF transcription factor 13

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

G

microRNA mir-211

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

NCBI chr 3:37,882,660...37,882,759
Ensembl chr 3:37,882,660...37,882,759

G

myotubularin related protein 10

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

NCBI chr 3:37,958,771...38,012,893
Ensembl chr 3:37,960,004...38,011,344

G

OTU deubiquitinase 7A

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

NCBI chr 3:37,348,167...37,548,357
Ensembl chr 3:37,348,170...37,548,885

G

transient receptor potential cation channel subfamily M member 1

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

NCBI chr 3:37,860,730...37,949,108
Ensembl chr 3:37,817,339...37,949,108

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 chr30:38,509,233...38,512,782
Ensembl chr30:38,509,464...38,512,732

G

COMM domain containing 4

ClinVar Annotator: match by term: Witteveen-kolk syndrome

PMID:18755302 PMID:19557438 PMID:21681106

NCBI chr30:38,202,435...38,208,451
Ensembl chr30:38,202,468...38,210,066

G

chondroitin sulfate proteoglycan 4

ClinVar Annotator: match by term: Witteveen-kolk syndrome

PMID:18755302 PMID:19557438 PMID:21681106

NCBI chr30:38,465,486...38,498,365
Ensembl chr30:38,465,241...38,497,971

G

IMP U3 small nucleolar ribonucleoprotein 3

ClinVar Annotator: match by term: Witteveen-kolk syndrome

PMID:18755302 PMID:19557438 PMID:21681106

NCBI chr30:38,431,236...38,432,107
Ensembl chr30:38,424,520...38,432,143

G

mannosidase alpha class 2C member 1

ClinVar Annotator: match by term: Witteveen-kolk syndrome

PMID:18755302 PMID:19557438 PMID:21681106

NCBI chr30:38,218,086...38,230,745
Ensembl chr30:38,218,567...38,229,041

G

nei like DNA glycosylase 1

ClinVar Annotator: match by term: Witteveen-kolk syndrome

PMID:18755302 PMID:19557438 PMID:21681106

NCBI chr30:38,213,429...38,218,132
Ensembl chr30:38,213,250...38,218,130

G

protein tyrosine phosphatase non-receptor type 9

ClinVar Annotator: match by term: Witteveen-kolk syndrome

PMID:18755302 PMID:19557438 PMID:21681106

NCBI chr30:38,314,598...38,364,369
Ensembl chr30:38,232,680...38,382,635

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 chr30:38,231,844...38,306,665
Ensembl chr30:38,232,680...38,382,635

G

snurportin 1

ClinVar Annotator: match by term: Witteveen-kolk syndrome

PMID:18755302 PMID:19557438 PMID:21681106

NCBI chr30:38,401,016...38,422,885
Ensembl chr30:38,401,192...38,432,686

G

sorting nexin 33

ClinVar Annotator: match by term: Witteveen-kolk syndrome

PMID:18755302 PMID:19557438 PMID:21681106

NCBI chr30:38,441,311...38,453,477
Ensembl chr30:38,441,305...38,450,161

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 3:40,613,902...40,939,616
Ensembl chr 3:40,613,759...40,939,615

G

aldehyde dehydrogenase 1 family member A3

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

NCBI chr 3:40,130,904...40,168,686
Ensembl chr 3:40,132,726...40,168,664

G

ankyrin repeat and SOCS box containing 7

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

NCBI chr 3:40,365,515...40,415,345
Ensembl chr 3:40,320,391...40,414,671

G

ceramide synthase 3

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

NCBI chr 3:40,448,174...40,570,736
Ensembl chr 3:40,459,162...40,568,272

G

chondroitin sulfate synthase 1

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

NCBI chr 3:39,844,227...39,916,484
Ensembl chr 3:39,844,195...40,021,573

G

insulin like growth factor 1 receptor

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

NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387

G

lines homolog 1

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

NCBI chr 3:40,415,599...40,437,075
Ensembl chr 3:40,415,163...40,436,966

G

leucine rich repeat containing 28

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

NCBI chr 3:41,337,328...41,496,747
Ensembl chr 3:41,337,328...41,496,755

G

leucine rich repeat kinase 1

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

NCBI chr 3:40,003,299...40,122,326
Ensembl chr 3:40,004,557...40,122,320

G

LysM domain containing 4

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

NCBI chr 3:40,983,350...40,989,611
Ensembl chr 3:40,982,907...40,988,434

G

myocyte enhancer factor 2A

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

NCBI chr 3:41,012,103...41,177,588
Ensembl chr 3:41,015,713...41,179,448

G

pyroglutamyl-peptidase I like

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

NCBI chr 3:42,101,055...42,150,367
Ensembl chr 3:42,098,609...42,146,623

G

synemin

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

NCBI chr 3:41,595,218...41,623,475
Ensembl chr 3:41,594,580...41,623,627

G

tetratricopeptide repeat domain 23

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

NCBI chr 3:41,496,951...41,592,971
Ensembl chr 3:41,506,321...41,594,050

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 6:18,384,981...18,400,038
Ensembl chr 6:18,385,007...18,400,036

G

ataxin 2 like

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

NCBI chr 6:18,342,953...18,355,421
Ensembl chr 6:18,343,016...18,385,112

G

CD19 molecule

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

NCBI chr 6:18,419,092...18,425,524
Ensembl chr 6:18,418,241...18,425,400

G

linker for activation of T cells

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

NCBI chr 6:18,458,985...18,462,463
Ensembl chr 6:18,459,061...18,462,694

G

nuclear factor of activated T cells 2 interacting protein

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

NCBI chr 6:18,433,421...18,444,148
Ensembl chr 6:18,432,809...18,443,922

G

rabaptin, RAB GTPase binding effector protein 2

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

NCBI chr 6:18,399,992...18,413,537
Ensembl chr 6:18,397,161...18,456,477

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 6:18,370,881...18,380,965
Ensembl chr 6:18,371,832...18,380,962

G

SPNS lysolipid transporter 1, lysophospholipid

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

NCBI chr 6:18,450,019...18,458,456
Ensembl chr 6:18,412,219...18,459,438

G

sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1

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

NCBI chr 6:18,176,156...18,179,492
Ensembl chr 6:18,176,355...18,179,489

G

Tu translation elongation factor, mitochondrial

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

NCBI chr 6:18,357,223...18,360,929
Ensembl chr 6:18,357,244...18,361,557

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 6:18,077,241...18,083,053

G

aspartate beta-hydroxylase domain containing 1

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

PMID:25741868 PMID:31690835

NCBI chr 6:17,941,306...17,945,594
Ensembl chr 6:17,941,574...17,945,217

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 6:18,384,981...18,400,038
Ensembl chr 6:18,385,007...18,400,036

G

ataxin 2 like

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

PMID:25741868 PMID:31690835 PMID:32238909

NCBI chr 6:18,342,953...18,355,421
Ensembl chr 6:18,343,016...18,385,112

G

bolA family member 2B

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

NCBI chr 6:18,170,106...18,171,012

G

chromosome 6 C16orf54 homolog

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

PMID:25741868 PMID:31690835

NCBI chr 6:17,811,506...17,815,122
Ensembl chr 6:17,812,667...17,853,083

G

chromosome 6 C16orf92 homolog

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

PMID:25741868 PMID:31690835

NCBI chr 6:18,051,019...18,053,729
Ensembl chr 6:18,052,621...18,054,126

G

CD19 molecule

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

PMID:25741868 PMID:31690835 PMID:32238909

NCBI chr 6:18,419,092...18,425,524
Ensembl chr 6:18,418,241...18,425,400

G

CDP-diacylglycerol--inositol 3-phosphatidyltransferase

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

PMID:25741868 PMID:31690835

NCBI chr 6:17,910,141...17,914,573
Ensembl chr 6:17,910,192...17,914,653

G

coronin 1A

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

PMID:25741868 PMID:31690835

NCBI chr 6:18,161,850...18,167,915
Ensembl chr 6:18,160,601...18,167,818

G

double C2 domain alpha

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

PMID:25741868 PMID:31690835

NCBI chr 6:18,041,551...18,046,779
Ensembl chr 6:18,041,296...18,046,265

G

glycerophosphodiester phosphodiesterase domain containing 3

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

PMID:25741868 PMID:31690835

NCBI chr 6:18,103,273...18,108,818
Ensembl chr 6:18,103,267...18,108,533

G

HIRA interacting protein 3

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

PMID:25741868 PMID:31690835

NCBI chr 6:18,030,070...18,032,774
Ensembl chr 6:18,030,074...18,032,730

G

INO80 complex subunit E

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

PMID:25741868 PMID:31690835

NCBI chr 6:18,033,366...18,041,604
Ensembl chr 6:18,033,363...18,041,308

G

potassium channel tetramerization domain containing 13

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

PMID:25741868 PMID:31690835

NCBI chr 6:17,945,541...17,959,421
Ensembl chr 6:17,946,062...17,959,232

G

kinesin family member 22

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

PMID:25741868 PMID:31690835

NCBI chr 6:17,853,190...17,865,386
Ensembl chr 6:17,853,149...17,865,386

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 6:18,458,985...18,462,463
Ensembl chr 6:18,459,061...18,462,694

G

atherin

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

NCBI chr 6:18,069,839...18,077,265

G

pulmonary surfactant-associated protein A-like

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

NCBI chr 4:29,430,139...29,434,640

G

mitogen-activated protein kinase 3

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

PMID:25741868 PMID:31690835

NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425

G

MYC associated zinc finger protein

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

PMID:25741868 PMID:31690835

NCBI chr 6:17,867,491...17,870,108
Ensembl chr 6:17,867,488...17,870,197

G

major vault protein

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

PMID:25741868 PMID:31690835

NCBI chr 6:17,879,687...17,903,184
Ensembl chr 6:17,873,521...17,903,184

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 6:18,433,421...18,444,148
Ensembl chr 6:18,432,809...18,443,922

G

PAXIP1 associated glutamate rich protein 1

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

PMID:25741868 PMID:31690835

NCBI chr 6:17,876,740...17,879,546

G

protein phosphatase 4 catalytic subunit

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

PMID:25741868 PMID:31690835

NCBI chr 6:18,085,048...18,092,861
Ensembl chr 6:18,085,116...18,092,854

G

proline rich transmembrane protein 2

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

PMID:25741868 PMID:31690835

NCBI chr 6:17,872,670...17,877,502
Ensembl chr 6:17,873,521...17,903,184

G

quinolinate phosphoribosyltransferase

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

PMID:25741868 PMID:31690835

NCBI chr 6:17,778,664...17,794,110
Ensembl chr 6:17,779,439...17,794,035

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 6:18,399,992...18,413,537
Ensembl chr 6:18,397,161...18,456,477

G

seizure related 6 homolog like 2

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

PMID:25741868 PMID:31690835

NCBI chr 6:17,920,413...17,938,382
Ensembl chr 6:17,921,311...17,945,738

G

SH2B adaptor protein 1

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

PMID:25741868 PMID:31690835 PMID:32238909

NCBI chr 6:18,370,881...18,380,965
Ensembl chr 6:18,371,832...18,380,962

G

SLX1 homolog A, structure-specific endonuclease subunit

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

NCBI chr 6:18,171,190...18,174,577

G

sialophorin

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

PMID:25741868 PMID:31690835

NCBI chr 6:17,770,303...17,774,946

G

SPNS lysolipid transporter 1, lysophospholipid

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

PMID:25741868 PMID:31690835 PMID:32238909

NCBI chr 6:18,450,019...18,458,456
Ensembl chr 6:18,412,219...18,459,438

G

TAO kinase 2

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

PMID:25741868 PMID:31690835

NCBI chr 6:18,014,685...18,029,188
Ensembl chr 6:18,000,138...18,029,185

G

T-box transcription factor 6

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

PMID:25741868 PMID:31690835

NCBI chr 6:18,093,201...18,098,592
Ensembl chr 6:18,093,189...18,097,636

G

TLC domain containing 3B

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

PMID:25741868 PMID:31690835

NCBI chr 6:18,053,841...18,062,755
Ensembl chr 6:18,054,632...18,055,914

G

transmembrane protein 219

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

PMID:25741868 PMID:31690835

NCBI chr 6:17,959,490...18,014,813
Ensembl chr 6:18,000,138...18,029,185

G

Tu translation elongation factor, mitochondrial

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

PMID:25741868 PMID:31690835 PMID:32238909

NCBI chr 6:18,357,223...18,360,929
Ensembl chr 6:18,357,244...18,361,557

G

yippee like 3

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

PMID:25741868 PMID:31690835

NCBI chr 6:18,098,761...18,102,062
Ensembl chr 6:18,098,788...18,102,068

G

zymogen granule protein 16

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

PMID:25741868 PMID:31690835

NCBI chr 6:17,840,430...17,842,008
Ensembl chr 6:17,839,553...17,842,006

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 6:23,297,023...23,315,966
Ensembl chr 6:23,297,054...23,315,419

G

eukaryotic elongation factor 2 kinase

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

NCBI chr 6:23,368,296...23,433,853
Ensembl chr 6:23,371,546...23,433,929

G

modulator of smoothened

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

NCBI chr 6:23,544,759...23,607,810
Ensembl chr 6:23,542,527...23,607,801

G

PDZ domain containing 9

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

NCBI chr 6:23,614,793...23,638,539
Ensembl chr 6:23,614,912...23,626,991

G

RNA polymerase III subunit E

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

NCBI chr 6:23,334,495...23,357,898
Ensembl chr 6:23,329,228...23,358,486

G

short chain dehydrogenase/reductase family 42E, member 2

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

NCBI chr 6:23,452,730...23,469,885

G

ubiquinol-cytochrome c reductase core protein 2

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

NCBI chr 6:23,627,782...23,653,625
Ensembl chr 6:23,627,831...23,653,563

G

von Willebrand factor A domain containing 3A

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

NCBI chr 6:23,473,609...23,533,434
Ensembl chr 6:23,473,810...23,532,776

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 5:81,789,915...81,792,725
Ensembl chr 5:81,789,997...81,792,639

G

chromosome 5 C16orf86 homolog

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

NCBI chr 5:81,781,829...81,783,754
Ensembl chr 5:81,781,832...81,783,620

G

capping protein regulator and myosin 1 linker 2

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

NCBI chr 5:81,792,683...81,804,274
Ensembl chr 5:81,792,155...81,804,152

G

CCCTC-binding factor

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

NCBI chr 5:81,808,512...81,863,811
Ensembl chr 5:81,809,393...81,858,655

G

enkurin domain containing 1

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

NCBI chr 5:81,783,887...81,787,244
Ensembl chr 5:81,784,109...81,787,243

G

Gfo/Idh/MocA-like oxidoreductase domain containing 2

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

NCBI chr 5:81,738,653...81,776,853
Ensembl chr 5:81,766,864...81,776,206

G

par-6 family cell polarity regulator alpha

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

NCBI chr 5:81,787,424...81,789,833
Ensembl chr 5:81,787,553...81,790,324

G

RAN binding protein 10

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

NCBI chr 5:81,662,034...81,736,269
Ensembl chr 5:81,662,172...81,732,838

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

Ensembl chr 9:9,381,737...9,565,976
Ensembl chr 9:9,381,737...9,565,976

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

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 chr 9:40,794,772...40,809,022
Ensembl chr 9:40,795,297...40,808,737

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 chr 9:36,773,313...36,878,752
Ensembl chr 9:36,773,312...36,878,745

G

acetyl-CoA carboxylase alpha

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

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

NCBI chr 9:36,904,204...37,188,096
Ensembl chr 9:36,905,293...37,187,892

G

chromosome 9 C17orf78 homolog

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

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

NCBI chr 9:37,120,334...37,168,847
Ensembl chr 9:37,155,372...37,165,421

G

chemokine (C-C motif) ligand 3

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

PMID:24088041 PMID:26633545

NCBI chr 9:37,693,711...37,695,137
Ensembl chr 9:37,686,480...37,695,573

G

chemokine (C-C motif) ligand 4

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

PMID:24088041 PMID:26633545

NCBI chr 9:37,681,342...37,682,691
Ensembl chr 9:37,676,966...37,710,209

G

DExD-box helicase 52

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

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

NCBI chr 9:37,368,243...37,390,526

G

dehydrogenase/reductase 11

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

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

NCBI chr 9:36,465,449...36,473,625
Ensembl chr 9:36,465,444...36,473,414

G

dual specificity phosphatase 14

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

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

NCBI chr 9:37,253,305...37,277,320
Ensembl chr 9:37,276,084...37,276,680

G

gametogenetin binding protein 2

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

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

NCBI chr 9:36,430,194...36,463,248
Ensembl chr 9:36,442,652...36,463,200

G

HNF1 homeobox B

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

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

NCBI chr 9:37,437,992...37,493,200
Ensembl chr 9:37,438,583...37,492,993

G

LIM homeobox 1

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

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

NCBI chr 9:36,760,890...36,768,345
Ensembl chr 9:36,761,826...36,768,164

G

chemokine (C-C motif) ligand 3

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

PMID:24088041 PMID:26633545

NCBI chr 9:37,708,561...37,710,209
Ensembl chr 9:37,676,966...37,710,209

G

mitochondrial rRNA methyltransferase 1

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

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

NCBI chr 9:36,474,568...36,478,387
Ensembl chr 9:36,474,268...36,478,562

G

mitochondrial ribosomal protein L45

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

PMID:24088041 PMID:26633545

NCBI chr 9:23,829,557...23,838,738

G

myosin XIX

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

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

NCBI chr 9:36,383,777...36,429,730
Ensembl chr 9:36,349,191...36,428,091

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 chr 9:36,419,807...36,424,596
Ensembl chr 9:36,421,216...36,424,218

G

synergin gamma

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

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

NCBI chr 9:37,280,620...37,365,477
Ensembl chr 9:37,280,645...37,366,116

G

transcriptional adaptor 2A

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

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

NCBI chr 9:37,188,193...37,241,605
Ensembl chr 9:37,188,249...37,241,512

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 chr 9:36,378,226...36,383,906
Ensembl chr 9:36,378,211...36,383,966

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 chr15:463,307...493,145
Ensembl chr15:463,237...493,140

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 7:77,749,029...77,787,466
Ensembl chr 7:77,737,808...77,787,472

G

A-kinase anchor inhibitor 1

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

NCBI chr 7:71,552,660...71,636,663
Ensembl chr 7:71,553,561...71,602,673

G

ankyrin repeat domain 12

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

NCBI chr 7:75,188,058...75,311,825
Ensembl chr 7:75,219,779...75,307,577

G

APC down-regulated 1

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

NCBI chr 7:76,336,502...76,368,695
Ensembl chr 7:76,336,547...76,367,267

G

Rho GTPase activating protein 28

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

NCBI chr 7:73,023,681...73,260,093
Ensembl chr 7:73,055,118...73,257,375

G

centrosomal protein 192

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

NCBI chr 7:78,401,273...78,541,918
Ensembl chr 7:78,351,992...78,541,669

G

centrosomal protein 76

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

NCBI chr 7:78,062,793...78,092,478
Ensembl chr 7:77,854,875...78,092,466

G

charged multivesicular body protein 1B

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

NCBI chr 7:77,500,378...77,503,092

G

cell death inducing DFFA like effector a

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

NCBI chr 7:77,685,383...77,703,320
Ensembl chr 7:77,684,863...77,702,934

G

DLG associated protein 1

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

NCBI chr 7:70,082,563...70,949,116
Ensembl chr 7:70,081,885...70,406,213

G

elastin microfibril interfacer 2

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

NCBI chr 7:69,521,430...69,580,963

G

erythrocyte membrane protein band 4.1 like 3

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

NCBI chr 7:71,734,325...72,001,496
Ensembl chr 7:71,747,333...71,868,751

G

family with sequence similarity 210 member A

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

NCBI chr 1:24,499,572...24,529,224
Ensembl chr 1:24,518,239...24,527,820

G

G protein subunit alpha L

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

NCBI chr 7:77,378,134...77,521,215
Ensembl chr 7:77,413,986...77,521,042

G

inositol monophosphatase 2

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

NCBI chr 7:77,604,620...77,648,416
Ensembl chr 7:77,597,888...77,648,218

G

L3MBTL histone methyl-lysine binding protein 4

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

NCBI chr 7:72,305,146...72,799,146
Ensembl chr 7:72,306,159...72,691,255

G

laminin subunit alpha 1

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

NCBI chr 7:73,309,383...73,438,543
Ensembl chr 7:73,309,388...73,448,151

G

low density lipoprotein receptor class A domain containing 4

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

NCBI chr 1:24,541,702...24,927,435
Ensembl chr 1:24,541,811...24,925,464

G

myosin regulatory light polypeptide 9

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

NCBI chr 7:69,860,472...69,871,878

G

lipin 2

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

NCBI chr 7:69,583,386...69,664,226
Ensembl chr 7:69,580,736...69,673,899

G

leucine rich repeat containing 30

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

NCBI chr 7:73,554,459...73,556,247
Ensembl chr 7:73,554,654...73,555,559

G

melanocortin 2 receptor

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

NCBI chr 1:24,351,219...24,390,071
Ensembl chr 1:24,388,280...24,389,170

G

melanocortin 5 receptor

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

NCBI chr 1:24,429,331...24,433,212

G

metallophosphoesterase 1

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

NCBI chr 7:77,521,348...77,544,033
Ensembl chr 7:77,521,546...77,540,405

G

microtubule crosslinking factor 1

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

NCBI chr 7:74,840,271...74,967,849
Ensembl chr 7:74,840,032...74,967,305

G

myosin light chain 12B

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

NCBI chr 7:69,877,727...69,895,196

G

myomesin 1

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

NCBI chr 7:69,703,057...69,837,987
Ensembl chr 7:69,703,540...69,857,740

G

NSF attachment protein gamma

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

NCBI chr 7:76,403,561...76,424,994
Ensembl chr 7:76,403,595...76,423,170

G

NADH:ubiquinone oxidoreductase core subunit V2

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

NCBI chr 7:75,150,293...75,184,084
Ensembl chr 7:75,150,415...75,184,067

G

piezo type mechanosensitive ion channel component 2

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

NCBI chr 7:76,477,628...76,918,660
Ensembl chr 7:76,478,928...76,919,723

G

protein phosphatase 4 regulatory subunit 1

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

NCBI chr 7:75,524,483...75,582,850
Ensembl chr 7:75,525,249...75,583,553

G

PRELI domain containing 3A

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

NCBI chr 7:77,826,003...77,873,568
Ensembl chr 7:77,832,134...77,836,987

G

proteasome assembly chaperone 2

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

NCBI chr 7:78,092,877...78,112,831
Ensembl chr 7:78,092,876...78,112,702

G

protein tyrosine phosphatase non-receptor type 2

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

NCBI chr 7:78,160,564...78,252,382
Ensembl chr 7:78,160,589...78,252,719

G

protein tyrosine phosphatase receptor type M

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

NCBI chr 7:74,005,682...74,597,498
Ensembl chr 7:73,815,186...74,609,116

G

RAB12, member RAS oncogene family

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

NCBI chr 7:74,752,697...74,791,872

G

RAB31, member RAS oncogene family

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

NCBI chr 7:75,678,896...75,807,716
Ensembl chr 7:75,678,908...75,817,426

G

ralA binding protein 1

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

NCBI chr 7:75,461,220...75,511,860
Ensembl chr 7:75,461,222...75,510,229

G

RNA guanine-7 methyltransferase

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

NCBI chr 1:24,465,634...24,499,526
Ensembl chr 1:24,430,063...24,497,206

G

SEH1 like nucleoporin

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

NCBI chr 7:78,352,153...78,383,546
Ensembl chr 7:78,351,992...78,541,669

G

structural maintenance of chromosomes flexible hinge domain containing 1

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

NCBI chr 7:69,359,286...69,505,067
Ensembl chr 7:69,358,447...69,621,067

G

spire type actin nucleation factor 1

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

NCBI chr 7:77,860,287...78,062,894
Ensembl chr 7:77,854,875...78,092,466

G

TGFB induced factor homeobox 1

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

NCBI chr 7:70,040,376...70,048,346
Ensembl chr 7:70,040,508...70,047,912

G

transmembrane protein 200C

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

G

tubulin beta 6 class V

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

NCBI chr 7:77,728,876...77,746,759
Ensembl chr 7:77,728,180...77,749,270

G

twisted gastrulation BMP signaling modulator 1

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

NCBI chr 7:75,337,347...75,397,485
Ensembl chr 7:75,335,235...75,398,325

G

thioredoxin domain containing 2

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

NCBI chr 7:75,822,005...75,824,032
Ensembl chr 7:75,822,013...75,824,007

G

VAMP associated protein A

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

NCBI chr 7:75,844,927...75,891,811
Ensembl chr 7:75,845,000...75,889,076

G

zinc finger and BTB domain containing 14

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

NCBI chr 7:71,680,692...71,687,651
Ensembl chr 7:71,682,578...71,687,703

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 1:600,804...635,013
Ensembl chr 1:602,264...635,348

G

ankyrin repeat domain 29

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

NCBI chr 7:64,689,035...64,735,592
Ensembl chr 7:64,689,054...64,733,528

G

aquaporin 4

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

NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089

G

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

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

NCBI chr 7:44,834,006...44,939,538
Ensembl chr 7:44,840,099...44,940,619

G

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

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

NCBI chr 7:44,991,197...45,071,723
Ensembl chr 7:44,969,267...45,036,204

G

ASXL transcriptional regulator 3

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

NCBI chr 7:56,093,897...56,251,261
Ensembl chr 7:56,097,970...56,263,622

G

ATP synthase F1 subunit alpha

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

NCBI chr 7:45,118,188...45,127,048
Ensembl chr 7:45,117,657...45,127,048

G

ATPase phospholipid transporting 9B (putative)

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

PMID:25741868 PMID:31690835

NCBI chr 1:1,136,862...1,374,102
Ensembl chr 1:1,136,865...1,374,514

G

beta-1,4-galactosyltransferase 6

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

NCBI chr 7:57,849,872...57,917,289
Ensembl chr 7:57,849,884...57,914,360

G

BCL2 apoptosis regulator

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

PMID:25741868 PMID:31690835

NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658

G

chromosome 1 C18orf63 homolog

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

PMID:25741868 PMID:31690835

NCBI chr 1:5,028,255...5,062,610
Ensembl chr 1:5,030,825...5,061,846

G

chromosome 7 C18orf21 homolog

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

NCBI chr 7:54,202,934...54,210,601
Ensembl chr 7:54,202,934...54,210,676

G

calcium binding tyrosine phosphorylation regulated

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

NCBI chr 7:64,223,591...64,239,362
Ensembl chr 7:64,223,579...64,239,277

G

cerebellin 2 precursor

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

PMID:25741868 PMID:31690835

NCBI chr 1:6,378,153...6,384,559
Ensembl chr 1:6,376,777...6,382,024

G

coiled-coil domain containing 102B

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

PMID:25741868 PMID:31690835

NCBI chr 1:9,202,852...9,341,543
Ensembl chr 1:9,112,077...9,341,746

G

coiled-coil domain containing 178

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

NCBI chr 7:56,405,081...56,831,787
Ensembl chr 7:56,404,878...56,831,558

G

CD226 molecule

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

PMID:25741868 PMID:31690835

NCBI chr 1:8,348,628...8,437,520
Ensembl chr 1:8,351,207...8,435,145

G

cadherin 19

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

PMID:25741868 PMID:31690835

NCBI chr 1:11,074,216...11,168,816
Ensembl chr 1:11,074,305...11,165,626

G

cadherin 2

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

NCBI chr 7:60,736,760...60,950,477
Ensembl chr 7:60,736,760...60,951,034

G

cadherin 20

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

PMID:25741868 PMID:31690835

NCBI chr 1:15,172,681...15,388,327
Ensembl chr 1:15,183,350...15,234,880

G

cadherin 7

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

PMID:25741868 PMID:31690835

NCBI chr 1:11,699,505...11,824,489
Ensembl chr 1:11,706,673...11,824,578

G

CUGBP Elav-like family member 4

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

NCBI chr 7:52,940,941...53,012,206
Ensembl chr 7:52,838,558...53,010,041

G

carbohydrate sulfotransferase 9

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

NCBI chr 7:61,612,085...61,806,726
Ensembl chr 7:61,571,574...61,804,715

G

carnosine dipeptidase 1

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

PMID:25741868 PMID:31690835

NCBI chr 1:4,875,790...4,912,148
Ensembl chr 1:4,876,794...4,911,976

G

carnosine dipeptidase 2

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

PMID:25741868 PMID:31690835

NCBI chr 1:4,914,739...4,931,700
Ensembl chr 1:4,914,737...4,929,449

G

CTD phosphatase subunit 1

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

PMID:25741868 PMID:31690835

NCBI chr 1:886,973...945,994
Ensembl chr 1:762,020...946,142

G

cap binding complex dependent translation initiation factor

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

NCBI chr 7:79,780,645...79,998,207
Ensembl chr 7:79,593,622...79,988,409

G

divergent protein kinase domain 1C

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

PMID:25741868 PMID:31690835

NCBI chr 1:4,954,115...4,980,277
Ensembl chr 1:4,959,886...4,978,431

G

docking protein 6

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

PMID:25741868 PMID:31690835

NCBI chr 1:8,446,332...8,707,600
Ensembl chr 1:8,453,714...8,707,173

G

desmocollin 1

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

NCBI chr 7:58,322,959...58,350,092
Ensembl chr 7:58,322,959...58,457,978

G

desmocollin 2

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

NCBI chr 7:58,369,316...58,402,028
Ensembl chr 7:58,322,959...58,457,978

G

desmocollin 3

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

NCBI chr 7:58,412,769...58,457,593

G

dermatan sulfate epimerase like

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

PMID:25741868 PMID:31690835

NCBI chr 1:10,344,468...10,366,936

G

desmoglein 1

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

NCBI chr 7:58,159,283...58,239,018
Ensembl chr 7:58,102,113...58,193,708

G

desmoglein 2

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

NCBI chr 7:57,981,918...58,030,197
Ensembl chr 7:57,982,825...58,077,926

G

desmoglein 3

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

NCBI chr 7:58,046,563...58,077,926
Ensembl chr 7:57,982,825...58,077,926

G

desmoglein 4

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

NCBI chr 7:58,101,294...58,135,376

G

dystrobrevin alpha

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

NCBI chr 7:55,068,555...55,420,377
Ensembl chr 7:55,069,462...55,420,259

G

dymeclin

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

NCBI chr 7:79,286,558...79,629,451
Ensembl chr 7:79,286,614...79,629,043

G

elongator acetyltransferase complex subunit 2

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

NCBI chr 7:54,010,628...54,059,006
Ensembl chr 7:54,011,577...54,059,887

G

ectopic P-granules 5 autophagy tethering factor

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

NCBI chr 7:45,215,232...45,318,736
Ensembl chr 7:45,215,324...45,314,630

G

F-box protein 15

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

PMID:25741868 PMID:31690835

NCBI chr 1:5,182,224...5,231,520
Ensembl chr 1:5,182,244...5,231,424

G

formin homology 2 domain containing 3

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

NCBI chr 7:53,477,273...53,933,532
Ensembl chr 7:53,478,930...53,934,331

G

polypeptide N-acetylgalactosaminyltransferase 1

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

NCBI chr 7:54,390,144...54,512,908
Ensembl chr 7:54,391,917...54,453,885

G

galanin receptor 1

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

PMID:25741868 PMID:31690835

NCBI chr 1:2,750,117...2,785,329
Ensembl chr 1:2,729,331...2,742,231
Ensembl chr 1:2,729,331...2,742,231

G

GRB2 associated regulator of MAPK1 subtype 1

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

NCBI chr 7:57,158,005...57,423,643
Ensembl chr 7:57,295,070...57,419,252

G

HAUS augmin like complex subunit 1

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

NCBI chr 7:45,101,762...45,115,499
Ensembl chr 7:45,087,756...45,115,403

G

haloacid dehalogenase like hydrolase domain containing 2

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

NCBI chr 7:44,328,108...44,364,395
Ensembl chr 7:44,328,128...44,363,270

G

histamine receptor H4

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

NCBI chr 7:63,918,408...63,932,258
Ensembl chr 7:63,918,232...63,932,569

G

heat shock factor binding protein 1 like 1

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

PMID:25741868 PMID:31690835

NCBI chr 1:743,321...747,401
Ensembl chr 1:744,458...747,200

G

immediate early response 3 interacting protein 1

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

NCBI chr 7:44,309,459...44,326,253

G

impact RWD domain protein

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

NCBI chr 7:63,947,117...63,976,628
Ensembl chr 7:63,948,157...63,976,613

G

INO80 complex subunit C

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

NCBI chr 7:54,569,954...54,586,902
Ensembl chr 7:54,569,972...54,586,782

G

katanin catalytic subunit A1 like 2

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

NCBI chr 7:44,359,777...44,454,340
Ensembl chr 7:44,366,182...44,437,346

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 1:805,892...866,031

G

potassium channel tetramerization domain containing 1

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

NCBI chr 7:62,119,658...62,214,365
Ensembl chr 7:62,118,600...62,213,593

G

3-ketodihydrosphingosine reductase

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

PMID:25741868 PMID:31690835

NCBI chr 1:13,682,838...13,726,872
Ensembl chr 1:13,689,246...13,723,528

G

KIAA1328

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

NCBI chr 7:53,022,077...53,400,208
Ensembl chr 7:53,027,322...53,291,418

G

kelch like family member 14

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

NCBI chr 7:56,973,284...57,089,128
Ensembl chr 7:56,974,692...57,088,039

G

laminin subunit alpha 3

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

NCBI chr 7:64,405,719...64,654,910
Ensembl chr 7:64,406,082...64,655,268

G

cytochrome b5 pseudogene

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

PMID:25741868 PMID:31690835

NCBI chr 1:5,070,817...5,106,668
Ensembl chr 1:5,070,865...5,106,932

G

serpin B4

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

PMID:25741868 PMID:31690835

NCBI chr 1:13,471,412...13,472,089

G

lipoxygenase homology PLAT domains 1

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

NCBI chr 7:44,662,800...44,828,405
Ensembl chr 7:44,663,182...44,826,858

G

microtubule associated protein RP/EB family member 2

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

NCBI chr 7:54,845,121...55,003,372
Ensembl chr 7:54,847,522...55,001,836

G

myelin basic protein

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

PMID:25741868 PMID:31690835

NCBI chr 1:2,841,801...2,952,553
Ensembl chr 1:2,846,589...2,951,860

G

melanocortin 4 receptor

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

NCBI chr 1:16,131,829...16,132,827
Ensembl chr 1:16,131,589...16,133,079

G

meprin A subunit beta

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

NCBI chr 7:57,456,414...57,476,238
Ensembl chr 7:57,456,530...57,478,337

G

microRNA mir-187

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

NCBI chr 7:54,261,943...54,262,010
Ensembl chr 7:54,261,943...54,262,010

G

molybdenum cofactor sulfurase

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

NCBI chr 7:53,950,561...54,002,046
Ensembl chr 7:53,945,436...54,002,252

G

neuropilin and tolloid like 1

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

PMID:25741868 PMID:31690835

NCBI chr 1:6,114,152...6,242,178
Ensembl chr 1:6,114,067...6,225,821

G

nuclear factor of activated T cells 1

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

PMID:25741868 PMID:31690835

NCBI chr 1:1,027,021...1,121,362
Ensembl chr 1:1,028,695...1,121,588

G

nucleolar protein 4

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

NCBI chr 7:55,617,119...56,007,790
Ensembl chr 7:55,618,123...56,006,041

G

oxysterol binding protein like 1A

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

NCBI chr 7:63,995,570...64,223,213
Ensembl chr 7:63,995,184...64,222,157

G

par-6 family cell polarity regulator gamma

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

PMID:25741868 PMID:31690835

NCBI chr 1:478,310...567,728
Ensembl chr 1:497,071...565,905

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 1:14,027,741...14,234,229
Ensembl chr 1:14,028,652...14,234,229

G

protein inhibitor of activated STAT 2

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

NCBI chr 7:44,436,100...44,583,657
Ensembl chr 7:44,454,095...44,583,657

G

phosphatidylinositol glycan anchor biosynthesis class N

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

PMID:25741868 PMID:31690835

NCBI chr 1:14,684,026...14,791,221
Ensembl chr 1:14,685,694...14,805,691

G

phosphatidylinositol 3-kinase catalytic subunit type 3

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

NCBI chr 7:48,663,381...48,800,350
Ensembl chr 7:48,663,381...48,800,437

G

proteasome 20S subunit alpha 8

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

NCBI chr 7:62,432,477...62,472,984
Ensembl chr 7:62,432,949...62,472,879

G

proline-serine-threonine phosphatase interacting protein 2

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

NCBI chr 7:45,170,787...45,203,865
Ensembl chr 7:45,138,807...45,203,072

G

prostaglandin reductase 3

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

PMID:25741868 PMID:31690835

NCBI chr 1:4,303,933...4,311,675
Ensembl chr 1:4,303,922...4,311,455

G

ribosome binding factor A

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

PMID:25741868 PMID:31690835

NCBI chr 1:692,870...722,681

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 1:14,573,377...14,683,795
Ensembl chr 1:14,579,381...14,683,555

G

Ras like without CAAX 2

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

NCBI chr 7:47,597,746...48,064,202
Ensembl chr 7:47,597,731...48,081,048

G

ring finger protein 125

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

NCBI chr 7:57,570,779...57,607,485
Ensembl chr 7:57,574,738...57,608,017

G

ring finger protein 138

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

NCBI chr 7:57,521,416...57,554,793
Ensembl chr 7:57,523,595...57,556,005

G

ring finger protein 152

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

PMID:25741868 PMID:31690835

NCBI chr 1:14,914,508...15,001,843
Ensembl chr 1:14,985,769...14,986,380

G

regulation of nuclear pre-mRNA domain containing 1A

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

NCBI chr 7:54,105,270...54,187,280
Ensembl chr 7:54,105,456...54,184,583

G

rotatin

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

PMID:25741868 PMID:31690835

NCBI chr 1:8,180,831...8,326,947
Ensembl chr 1:8,180,888...8,323,346

G

spalt like transcription factor 3

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

PMID:25741868 PMID:31690835

NCBI chr 1:1,413,991...1,421,516
Ensembl chr 1:1,416,390...1,435,326

G

serpin family B member 10

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

PMID:25741868 PMID:31690835

NCBI chr 1:13,233,715...13,256,289
Ensembl chr 1:13,234,402...13,256,238

G

serpin family B member 11

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

PMID:25741868 PMID:31690835

NCBI chr 1:13,395,127...13,486,974
Ensembl chr 1:13,410,079...13,487,008

G

serpin family B member 12

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

PMID:25741868 PMID:31690835

NCBI chr 1:13,516,993...13,539,834
Ensembl chr 1:13,518,850...13,539,956

G

serpin family B member 13

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

PMID:25741868 PMID:31690835

NCBI chr 1:13,492,998...13,505,716
Ensembl chr 1:13,493,301...13,505,001

G

serpin family B member 2

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

PMID:25741868 PMID:31690835

NCBI chr 1:13,260,288...13,276,727
Ensembl chr 1:13,260,387...13,272,980

G

serpin family B member 5

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

PMID:25741868 PMID:31690835

NCBI chr 1:13,566,982...13,638,839
Ensembl chr 1:13,568,376...13,638,781

G

serpin family B member 7

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

PMID:25741868 PMID:31690835

NCBI chr 1:13,336,067...13,392,674
Ensembl chr 1:13,336,837...13,358,125

G

serpin family B member 8

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

PMID:25741868 PMID:31690835

NCBI chr 1:13,213,506...13,223,489
Ensembl chr 1:13,200,602...13,222,943

G

SET binding protein 1

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

NCBI chr 7:46,020,892...46,378,867
Ensembl chr 7:46,020,889...46,378,005

G

sialic acid binding Ig like lectin 15

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

NCBI chr 7:45,322,677...45,338,103
Ensembl chr 7:45,324,440...45,337,814

G

SKI family transcriptional corepressor 2

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

NCBI chr 7:44,250,822...44,289,737

G

solute carrier family 14 member 1

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

NCBI chr 7:45,378,744...45,409,068
Ensembl chr 7:45,380,239...45,408,829

G

solute carrier family 14 member 2

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

NCBI chr 7:45,435,387...45,868,977
Ensembl chr 7:45,431,450...45,490,430

G

solute carrier family 39 member 6

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

NCBI chr 7:54,059,193...54,080,582
Ensembl chr 7:54,059,193...54,080,582

G

solute carrier family 66 member 2

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

PMID:25741868 PMID:31690835

NCBI chr 1:758,456...801,227
Ensembl chr 1:757,856...802,373

G

SMAD family member 2

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

NCBI chr 7:43,696,883...43,778,063
Ensembl chr 7:43,700,445...43,769,983

G

SMAD family member 7

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

NCBI chr 7:79,706,485...79,734,673
Ensembl chr 7:79,706,705...79,734,749

G

suppressor of cytokine signaling 6

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

PMID:25741868 PMID:31690835

NCBI chr 1:8,078,500...8,117,651
Ensembl chr 1:8,082,389...8,083,996

G

SS18 subunit of BAF chromatin remodeling complex

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

NCBI chr 7:62,490,901...62,571,607
Ensembl chr 7:62,475,290...62,570,234

G

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5

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

NCBI chr 7:44,583,638...44,656,823
Ensembl chr 7:44,591,092...44,646,048

G

synaptotagmin 4

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

NCBI chr 7:47,555,110...47,565,313
Ensembl chr 7:47,509,852...47,563,714

G

TATA-box binding protein associated factor 4b

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

NCBI chr 7:62,276,885...62,402,838
Ensembl chr 7:62,278,061...62,402,375

G

translocase of inner mitochondrial membrane 21

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

PMID:25741868 PMID:31690835

NCBI chr 1:5,175,702...5,182,096
Ensembl chr 1:5,175,714...5,181,883

G

thioredoxin related transmembrane protein 3

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

PMID:25741868 PMID:31690835

NCBI chr 1:9,395,336...9,439,939
Ensembl chr 1:9,395,296...9,436,922

G

TNF receptor superfamily member 11a

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

PMID:25741868 PMID:31690835

NCBI chr 1:14,504,595...14,555,956
Ensembl chr 1:14,503,033...14,556,041

G

tubulin polyglutamylase complex subunit 2

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

NCBI chr 7:53,399,571...53,467,180
Ensembl chr 7:53,398,763...53,466,656

G

trafficking protein particle complex subunit 8

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

NCBI chr 7:57,665,209...57,752,959
Ensembl chr 7:57,665,238...57,752,357

G

teashirt zinc finger homeobox 1

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

PMID:25741868 PMID:31690835

NCBI chr 1:4,224,875...4,229,755
Ensembl chr 1:4,226,210...4,246,762

G

tetratricopeptide repeat domain 39C

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

NCBI chr 7:64,242,157...64,306,963
Ensembl chr 7:64,244,716...64,306,941

G

transthyretin

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

NCBI chr 7:57,940,354...57,947,084
Ensembl chr 7:57,914,381...57,947,058

G

thioredoxin like 4A

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

PMID:25741868 PMID:31690835

NCBI chr 1:722,223...735,253
Ensembl chr 1:722,293...735,258

G

vacuolar protein sorting 4 homolog B

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

PMID:25741868 PMID:31690835

NCBI chr 1:13,638,965...13,673,295
Ensembl chr 1:13,639,004...13,669,072

G

zinc finger and BTB domain containing 7C

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

NCBI chr 7:80,393,636...80,495,961
Ensembl chr 7:80,484,067...80,493,712

G

zinc finger CCHC-type containing 2

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

PMID:25741868 PMID:31690835

NCBI chr 1:14,335,727...14,393,157
Ensembl chr 1:14,337,065...14,393,158

G

zinc finger protein 236

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

PMID:25741868 PMID:31690835

NCBI chr 1:2,959,113...3,062,349
Ensembl chr 1:2,961,498...3,061,984

G

zinc finger protein 24

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

NCBI chr 7:54,691,212...54,702,249
Ensembl chr 7:54,691,555...54,697,183

G

zinc finger protein 396

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

NCBI chr 7:54,665,057...54,748,122
Ensembl chr 7:54,664,522...54,673,505

G

zinc finger protein 397

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

NCBI chr 7:54,749,351...54,758,743
Ensembl chr 7:54,752,185...54,756,800

G

zinc finger protein 407

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

PMID:25741868 PMID:31690835

NCBI chr 1:4,421,386...4,869,396
Ensembl chr 1:4,422,156...4,869,200

G

zinc finger protein 516

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

PMID:25741868 PMID:31690835

NCBI chr 1:3,275,255...3,400,761
Ensembl chr 1:3,274,993...3,492,201

G

zinc finger protein 521

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

NCBI chr 7:63,146,696...63,421,790
Ensembl chr 7:63,146,690...63,421,792

G

zinc finger and SCAN domain containing 30

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

NCBI chr 7:54,741,734...54,748,122
Ensembl chr 7:54,742,067...54,746,668

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 1:117,841,097...117,883,650
Ensembl chr 1:117,843,510...117,883,633

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 2:83,737,052...83,744,067
Ensembl chr 2:83,737,052...83,743,874

G

arylacetamide deacetylase like 4

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:83,765,013...83,783,271
Ensembl chr 2:83,765,680...83,783,168

G

ArfGAP with coiled-coil, ankyrin repeat and PH domains 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,466,833...56,482,023
Ensembl chr 5:56,468,164...56,481,913

G

acyl-CoA thioesterase 7

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:60,153,616...60,239,254
Ensembl chr 5:60,153,616...60,239,239

G

actin like 8

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:80,560,307...80,624,865
Ensembl chr 2:80,560,311...80,564,127

G

actin related protein T2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:57,659,055...57,660,479
Ensembl chr 5:57,659,262...57,660,395

G

agmatinase (putative)

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:81,980,959...81,990,377
Ensembl chr 2:81,981,376...81,989,916

G

agrin

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,239,621...56,273,679
Ensembl chr 5:56,239,701...56,272,745

G

angiotensin II receptor associated protein

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:84,489,269...84,501,732
Ensembl chr 2:84,490,638...84,501,919

G

adherens junctions associated protein 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:58,907,970...59,023,115
Ensembl chr 5:58,907,678...59,015,062

G

aldo-keto reductase family 7 member A2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:79,334,179...79,343,880
Ensembl chr 2:79,334,205...79,343,007

G

aldehyde dehydrogenase 4 family member A1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:79,688,078...79,712,340
Ensembl chr 2:79,688,086...79,710,540

G

angiopoietin like 7

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:84,876,881...84,883,582
Ensembl chr 2:84,877,682...84,883,160

G

ankyrin repeat domain 65

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,564,686...56,568,194
Ensembl chr 5:56,565,514...56,567,376

G

Rho guanine nucleotide exchange factor 10 like

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:80,666,992...80,827,032
Ensembl chr 2:80,642,298...80,808,567

G

Rho guanine nucleotide exchange factor 16

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:58,031,246...58,051,936
Ensembl chr 5:58,030,459...58,051,936

G

Rho guanine nucleotide exchange factor 19

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:81,484,068...81,499,961
Ensembl chr 2:81,486,146...81,499,584

G

ATPase family AAA domain containing 3A

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,587,385...56,613,475
Ensembl chr 5:56,587,428...56,612,746

G

ATPase cation transporting 13A2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:81,196,355...81,215,736
Ensembl chr 2:81,196,463...81,215,689

G

aurora kinase A interacting protein 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,539,987...56,541,578
Ensembl chr 5:56,539,991...56,541,388

G

beta-1,3-galactosyltransferase 6

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,421,687...56,423,120
Ensembl chr 5:56,405,372...56,422,771

G

C1q and TNF related 12

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,433,555...56,438,419
Ensembl chr 5:56,433,552...56,438,339

G

chromosome 2 C1orf167 homolog

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:84,457,743...84,477,328

G

chromosome 5 C1orf159 homolog

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,296,633...56,330,358
Ensembl chr 5:56,297,635...56,307,616

G

chromosome 5 C1orf174 homolog

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:58,358,540...58,366,356
Ensembl chr 5:58,359,025...58,366,243

G

carbonic anhydrase 6

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:62,358,521...62,379,901
Ensembl chr 5:62,358,403...62,379,897

G

calmodulin like 6

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,901,401...56,904,422
Ensembl chr 5:56,901,715...56,904,424

G

calmodulin binding transcription activator 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:60,566,136...61,429,092
Ensembl chr 5:60,580,334...61,426,251

G

capping actin protein of muscle Z-line subunit beta

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:79,182,668...79,311,529
Ensembl chr 2:79,181,851...79,311,518

G

caspase 9

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:82,033,759...82,076,710
Ensembl chr 2:82,031,563...82,090,484

G

castor zinc finger 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:85,194,640...85,218,068
Ensembl chr 2:85,176,161...85,232,920

G

coiled-coil domain containing 27

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:58,266,091...58,280,997
Ensembl chr 5:58,269,308...58,279,829

G

cyclin L2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,542,358...56,550,701
Ensembl chr 5:56,542,566...56,550,691

G

cyclin dependent kinase 11

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,698,267...56,714,075

G

centromere protein S

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:85,379,378...85,389,175

G

centrosomal protein 104

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:58,301,767...58,339,920
Ensembl chr 5:58,305,589...58,335,438

G

cilia and flagella associated protein 107

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:83,713,652...83,727,022
Ensembl chr 2:83,713,686...83,726,788

G

cilia and flagella associated protein 74

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,909,092...56,970,980
Ensembl chr 5:56,909,486...56,961,903

G

chromodomain helicase DNA binding protein 5

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:60,022,451...60,080,663
Ensembl chr 5:60,025,602...60,081,148

G

chloride voltage-gated channel 6

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:84,410,740...84,443,874
Ensembl chr 2:84,413,612...84,445,033

G

chloride voltage-gated channel K

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:81,612,382...81,627,742

G

ciliogenesis and planar polarity effector complex subunit 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:81,468,095...81,473,646
Ensembl chr 2:81,469,802...81,473,947

G

ceramide-1-phosphate transfer protein

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,498,163...56,501,918
Ensembl chr 5:56,498,207...56,500,845

G

ciliary rootlet coiled-coil, rootletin

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:81,224,063...81,263,718
Ensembl chr 2:81,224,352...81,263,550

G

DNA damage inducible 1 homolog 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:81,915,613...81,957,803

G

DNA fragmentation factor subunit alpha

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:85,364,819...85,372,473
Ensembl chr 2:85,364,851...85,373,772

G

DNA fragmentation factor subunit beta

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:58,340,183...58,355,353
Ensembl chr 5:58,339,634...58,354,326

G

dehydrogenase/reductase 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:83,826,361...83,865,412
Ensembl chr 2:83,826,374...83,865,426

G

dispatched RND transporter family member 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:84,637,964...84,676,895
Ensembl chr 2:84,648,859...84,711,199

G

DnaJ heat shock protein family (Hsp40) member C11

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:60,450,389...60,525,852
Ensembl chr 5:60,436,516...60,525,780

G

DnaJ heat shock protein family (Hsp40) member C16

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:81,990,339...82,031,348
Ensembl chr 2:81,993,257...82,031,306

G

dorsal inhibitory axon guidance protein

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:84,515,881...84,525,797
Ensembl chr 2:84,515,811...84,526,387

G

dishevelled segment polarity protein 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,507,803...56,519,382
Ensembl chr 5:56,507,739...56,519,491

G

EF-hand domain family member D2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:82,086,761...82,090,680
Ensembl chr 2:82,088,244...82,091,033

G

ER membrane protein complex subunit 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:79,367,154...79,393,096
Ensembl chr 2:79,367,185...79,392,314

G

enolase 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:62,300,805...62,314,508
Ensembl chr 5:62,300,808...62,304,093

G

EPH receptor A2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:81,534,130...81,561,722
Ensembl chr 2:81,534,125...81,561,725

G

ERBB receptor feedback inhibitor 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:61,621,964...61,636,152
Ensembl chr 5:61,622,550...61,636,148

G

espin

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676

G

exosome component 10

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:84,942,801...84,964,129
Ensembl chr 2:84,942,777...84,964,130

G

FA core complex associated protein 20

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:57,114,784...57,122,854

G

family with sequence similarity 131 member C

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:81,595,383...81,611,739
Ensembl chr 2:81,595,276...81,611,112

G

filamin binding LIM protein 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:81,820,129...81,837,617
Ensembl chr 2:81,821,291...81,838,306

G

F-box protein 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:84,563,256...84,568,507
Ensembl chr 2:84,556,547...84,568,491

G

F-box protein 42

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:81,358,204...81,460,603
Ensembl chr 2:81,358,212...81,456,916

G

F-box protein 44

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:84,557,468...84,562,578

G

F-box protein 6

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:84,549,519...84,554,176
Ensembl chr 2:84,549,560...84,580,756

G

forkhead associated phosphopeptide binding domain 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:82,114,228...82,232,464
Ensembl chr 2:82,114,227...82,239,533

G

fibronectin type III domain containing 10

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,660,721...56,662,696

G

gamma-aminobutyric acid type A receptor subunit delta

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,984,786...56,994,790
Ensembl chr 5:56,984,913...56,994,358

G

G protein subunit beta 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295

G

G protein-coupled receptor 153

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:60,138,659...60,148,989
Ensembl chr 5:60,123,054...60,149,027

G

G protein-coupled receptor 157

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:62,453,338...62,471,614
Ensembl chr 5:62,454,921...62,508,970

G

hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:62,548,136...62,577,346
Ensembl chr 5:62,548,221...62,608,964

G

hes family bHLH transcription factor 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:60,275,645...60,279,327
Ensembl chr 5:60,278,043...60,279,181

G

hes family bHLH transcription factor 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:60,134,351...60,136,924
Ensembl chr 5:60,135,918...60,136,924

G

hes family bHLH transcription factor 4

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,221,509...56,226,938
Ensembl chr 5:56,225,497...56,226,772

G

hes family bHLH transcription factor 5

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:57,387,961...57,389,412
Ensembl chr 5:57,388,674...57,389,388

G

heat shock protein family B (small) member 7

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:81,628,051...81,631,939
Ensembl chr 2:81,619,999...81,630,483

G

5-hydroxytryptamine receptor 6

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:79,022,790...79,033,975
Ensembl chr 2:79,022,775...79,033,975

G

isoprenylcysteine carboxyl methyltransferase

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:60,119,793...60,128,531
Ensembl chr 5:60,123,054...60,149,027

G

intermediate filament family orphan 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:79,636,428...79,685,207
Ensembl chr 2:79,636,302...79,680,696

G

immunoglobin superfamily member 21

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:80,114,962...80,355,204
Ensembl chr 2:80,114,963...80,355,486

G

integrator complex subunit 11

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,485,690...56,498,074
Ensembl chr 5:56,485,948...56,498,017

G

ISG15 ubiquitin like modifier

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,230,879...56,237,354
Ensembl chr 5:56,236,318...56,404,695

G

kazrin, periplakin interacting protein

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:82,336,553...82,490,834

G

potassium voltage-gated channel subfamily A regulatory beta subunit 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:59,936,432...60,021,945
Ensembl chr 5:59,936,528...60,021,957

G

KIAA2013

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:84,349,640...84,355,645
Ensembl chr 2:84,349,330...84,355,645

G

kinesin family member 1B

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:63,367,294...63,516,388
Ensembl chr 5:63,376,820...63,513,476

G

kelch domain containing 7A

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:80,041,045...80,048,296
Ensembl chr 2:80,044,570...80,046,918

G

kelch like family member 17

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,186,077...56,193,671
Ensembl chr 5:56,187,922...56,192,983

G

kelch like family member 21

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:60,415,493...60,427,301
Ensembl chr 5:60,413,552...60,427,609

G

U1 spliceosomal RNA

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

G

heterogeneous nuclear ribonucleoprotein C

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr12:33,657,211...33,658,414

G

chymotrypsin-C

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:82,075,135...82,081,091

G

beta-catenin-interacting protein 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:62,937,154...63,093,083
Ensembl chr 5:62,938,511...63,093,275

G

solute carrier family 2, facilitated glucose transporter member 5

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:62,417,234...62,444,903
Ensembl chr 5:62,417,591...62,442,922

G

leucine rich repeat containing 38

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:83,622,976...83,653,878
Ensembl chr 2:83,622,968...83,653,703

G

leucine rich repeat containing 47

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:58,286,909...58,297,961
Ensembl chr 5:58,288,392...58,297,996

G

leucine zipper and CTNNBIP1 domain containing

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:63,110,854...63,122,488
Ensembl chr 5:63,113,191...63,122,750

G

mitotic arrest deficient 2 like 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:84,539,724...84,549,402
Ensembl chr 2:84,545,226...84,549,356

G

MBL associated serine protease 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:84,976,366...84,987,376
Ensembl chr 2:84,976,456...84,989,797

G

multiple EGF like domains 6

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:58,058,833...58,145,855
Ensembl chr 5:58,059,031...58,146,193

G

microfibril associated protein 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:81,217,197...81,223,726
Ensembl chr 2:81,220,431...81,224,243

G

mitofusin 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225

G

MIB E3 ubiquitin protein ligase 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,680,526...56,693,551
Ensembl chr 5:56,581,550...56,693,544

G

mitochondrial contact site and cristae organizing system subunit 10

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:79,068,865...79,102,818
Ensembl chr 2:79,041,105...79,102,820

G

migration and invasion inhibitory protein

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:84,269,126...84,275,214
Ensembl chr 2:84,269,267...84,274,787

G

microRNA mir-200a

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,369,063...56,369,152
Ensembl chr 5:56,369,061...56,369,151

G

microRNA mir-200b

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,368,400...56,368,479
Ensembl chr 5:56,368,400...56,368,479

G

microRNA mir-34a

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:62,485,832...62,485,897
Ensembl chr 5:62,485,832...62,485,897

G

membrane metalloendopeptidase like 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:57,434,880...57,467,973
Ensembl chr 5:57,434,886...57,465,911

G

matrix metallopeptidase 23

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,693,751...56,697,284
Ensembl chr 5:56,694,966...56,697,284

G

MORN repeat containing 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:57,227,265...57,275,292
Ensembl chr 5:57,227,315...57,277,669

G

mitochondrial ribosomal protein L20

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,553,326...56,558,182
Ensembl chr 5:56,553,331...56,558,136

G

MRT4 homolog, ribosome maturation factor

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:79,360,897...79,367,038
Ensembl chr 2:79,360,970...79,366,935

G

methylenetetrahydrofolate reductase

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818

G

mechanistic target of rapamycin kinase

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114

G

matrix remodeling associated 8

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,522,283...56,526,750
Ensembl chr 5:56,522,470...56,526,668

G

NAD kinase

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,743,920...56,774,578
Ensembl chr 5:56,745,869...56,774,529

G

NBL1, DAN family BMP antagonist

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:79,040,206...79,102,792
Ensembl chr 2:79,041,105...79,102,820

G

NECAP endocytosis associated 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:81,275,294...81,289,405
Ensembl chr 2:81,276,223...81,289,344

G

nicotinamide nucleotide adenylyltransferase 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:63,122,379...63,152,078
Ensembl chr 5:63,122,498...63,151,661

G

NOC2 like nucleolar associated transcriptional repressor

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,172,399...56,185,993
Ensembl chr 5:56,172,446...56,185,932

G

nucleolar protein 9

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:60,372,573...60,395,805
Ensembl chr 5:60,375,361...60,396,174

G

nephrocystin 4

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:59,819,236...59,936,220
Ensembl chr 5:59,814,274...59,929,386

G

natriuretic peptide A

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:84,406,317...84,408,115
Ensembl chr 2:84,396,073...84,408,385

G

natriuretic peptide B

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:84,395,844...84,397,473

G

OTU deubiquitinase 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:78,843,627...78,875,215
Ensembl chr 2:78,847,177...78,875,121

G

peptidyl arginine deiminase 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:80,997,563...81,036,942
Ensembl chr 2:80,996,021...81,036,942

G

peptidyl arginine deiminase 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:81,116,031...81,147,889
Ensembl chr 2:81,116,140...81,145,043

G

peptidyl arginine deiminase 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:80,966,034...80,993,937
Ensembl chr 2:80,905,391...80,993,973

G

peptidyl arginine deiminase 4

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:80,912,814...80,942,767
Ensembl chr 2:80,905,391...80,993,973

G

peptidyl arginine deiminase 6

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:80,888,961...80,907,780
Ensembl chr 2:80,888,961...80,907,780

G

pantothenate kinase 4 (inactive)

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:57,370,624...57,386,095
Ensembl chr 5:57,370,946...57,386,089

G

Parkinsonism associated deglycase

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:61,576,219...61,592,325
Ensembl chr 5:61,576,069...61,592,303

G

paired box 7

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:79,813,835...79,952,490
Ensembl chr 2:79,815,748...79,915,003

G

podoplanin

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:83,552,735...83,581,375
Ensembl chr 2:83,552,830...83,581,375

G

period circadian regulator 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:61,445,580...61,499,393
Ensembl chr 5:61,445,461...61,498,499

G

PPARGC1 and ESRR induced regulator, muscle 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,202,318...56,207,617
Ensembl chr 5:56,202,939...56,204,453

G

peroxisomal biogenesis factor 10

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:57,289,530...57,291,864
Ensembl chr 5:57,289,326...57,291,802

G

peroxisomal biogenesis factor 14

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:85,224,376...85,362,684
Ensembl chr 2:85,224,365...85,389,069

G

phosphogluconate dehydrogenase

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:85,393,526...85,408,714
Ensembl chr 2:85,393,819...85,408,272

G

PHD finger protein 13

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:60,434,218...60,441,930
Ensembl chr 5:60,433,328...60,439,672

G

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

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:62,884,596...62,936,882
Ensembl chr 5:62,909,009...62,935,971

G

phospholipase A2 group IIC

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:78,609,852...78,700,940

G

phospholipase A2 group IID

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:78,739,826...78,745,839
Ensembl chr 2:78,739,769...78,745,920

G

phospholipase A2 group IIE

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:78,834,820...78,838,058
Ensembl chr 2:78,831,309...78,841,821

G

phospholipase A2 group IIF

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:78,714,251...78,724,257
Ensembl chr 2:78,716,228...78,723,984

G

phospholipase A2 group V

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:78,762,851...78,781,642
Ensembl chr 2:78,762,852...78,781,983

G

phospholipase C eta 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:57,303,160...57,368,568
Ensembl chr 5:57,302,996...57,371,468

G

pleckstrin homology and RhoGEF domain containing G5

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:60,321,453...60,347,393
Ensembl chr 5:60,321,465...60,348,088

G

pleckstrin homology and RUN domain containing M2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:81,864,958...81,902,682
Ensembl chr 2:81,865,640...81,880,363

G

pleckstrin homology domain containing N1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,193,824...56,202,340
Ensembl chr 5:56,194,583...56,202,293

G

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:84,320,529...84,343,562
Ensembl chr 2:84,320,529...84,343,562

G

PR/SET domain 16

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:57,805,951...58,018,817
Ensembl chr 5:57,730,370...58,017,976

G

PR/SET domain 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:83,381,021...83,429,640
Ensembl chr 2:83,382,552...83,465,687

G

protein kinase C zeta

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:57,012,020...57,113,346
Ensembl chr 5:57,012,070...57,112,664

G

peroxiredoxin like 2B

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:57,429,973...57,434,371
Ensembl chr 5:57,429,212...57,434,210

G

pseudouridine synthase like 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,482,802...56,485,778
Ensembl chr 5:56,482,363...56,485,783

G

retinol binding protein 7

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:63,163,201...63,180,338
Ensembl chr 5:63,162,523...63,180,331

G

regulator of chromosome condensation 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:80,865,091...80,887,819
Ensembl chr 2:80,869,369...80,885,928

G

retention in endoplasmic reticulum sorting receptor 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:57,278,349...57,288,564
Ensembl chr 5:57,278,371...57,285,870

G

arginine-glutamic acid dipeptide repeats

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:61,868,288...62,249,009
Ensembl chr 5:61,868,685...62,215,973

G

ring finger protein 186

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:78,915,131...78,916,909
Ensembl chr 2:78,915,339...78,916,037

G

ring finger protein 207

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:60,105,200...60,119,902
Ensembl chr 5:60,106,297...60,118,670

G

ring finger protein 223

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,290,548...56,293,473

G

ribosomal protein L22

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:60,089,862...60,100,963
Ensembl chr 5:60,091,345...60,100,846

G

sterile alpha motif domain containing 11

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,119,207...56,175,267
Ensembl chr 5:56,151,171...56,172,055

G

sodium channel epithelial 1 subunit delta

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,455,677...56,466,035
Ensembl chr 5:56,461,939...56,465,595

G

stromal cell derived factor 4

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,407,506...56,421,515
Ensembl chr 5:56,407,807...56,421,430

G

succinate dehydrogenase complex iron sulfur subunit B

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:81,158,291...81,190,110
Ensembl chr 2:81,158,291...81,190,109

G

SKI proto-oncogene

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:57,144,178...57,216,385
Ensembl chr 5:57,145,825...57,214,403

G

solute carrier family 25 member 33

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:62,790,116...62,825,644
Ensembl chr 5:62,790,157...62,825,388

G

solute carrier family 25 member 34

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:81,859,294...81,864,808
Ensembl chr 2:81,860,234...81,863,494

G

solute carrier family 35 member E2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,715,798...56,739,464
Ensembl chr 5:56,718,550...56,738,420

G

solute carrier family 45 member 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:61,838,062...61,861,411
Ensembl chr 5:61,841,451...61,862,421

G

solute carrier family 66 member 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:79,318,200...79,334,047
Ensembl chr 2:79,318,345...79,320,885

G

small integral membrane protein 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:58,281,962...58,285,071
Ensembl chr 5:58,282,347...58,284,616

G

spermatogenesis associated 21

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:81,294,837...81,324,509
Ensembl chr 2:81,296,685...81,324,468

G

spen family transcriptional repressor

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:81,683,824...81,775,904

G

splA/ryanodine receptor domain and SOCS box containing 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:62,640,420...62,669,606
Ensembl chr 5:62,639,629...62,667,790

G

steroid receptor associated and regulated protein

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:81,639,051...81,641,161
Ensembl chr 2:81,639,055...81,641,467

G

spermidine synthase

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:84,968,833...84,973,111
Ensembl chr 2:84,967,570...84,973,087

G

SSU72 homolog, RNA polymerase II CTD phosphatase

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,620,803...56,650,131
Ensembl chr 5:56,620,805...56,650,131

G

SUZ RNA binding domain containing 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:81,320,737...81,350,712
Ensembl chr 2:81,327,795...81,350,641

G

TAR DNA binding protein

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:84,987,752...84,998,136
Ensembl chr 2:84,989,952...84,998,593

G

taste 1 receptor member 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:60,397,116...60,405,855
Ensembl chr 5:60,397,116...60,405,696

G

taste 1 receptor member 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:79,719,625...79,738,500
Ensembl chr 2:79,719,625...79,738,980

G

taste 1 receptor member 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,503,720...56,506,883
Ensembl chr 5:56,503,720...56,506,898

G

THAP domain containing 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:60,443,010...60,449,551
Ensembl chr 5:60,443,059...60,449,302

G

transmembrane and coiled-coil domains 4

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:78,930,982...79,022,247
Ensembl chr 2:78,937,040...79,022,250

G

transmembrane protein 201

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:62,831,449...62,853,437
Ensembl chr 5:62,834,884...62,851,467

G

transmembrane protein 240

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,613,561...56,619,693
Ensembl chr 5:56,614,201...56,619,693

G

transmembrane protein 51

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:82,251,395...82,307,008
Ensembl chr 2:82,252,110...82,307,222

G

transmembrane protein 52

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,900,297...56,906,565
Ensembl chr 5:56,901,674...56,906,500

G

transmembrane protein 82

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:81,854,861...81,858,863
Ensembl chr 2:81,855,163...81,858,792

G

transmembrane protein 88B

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,569,512...56,573,353
Ensembl chr 5:56,569,814...56,571,310

G

TNF receptor superfamily member 14

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:57,386,190...57,416,864
Ensembl chr 5:57,411,529...57,416,512

G

TNF receptor superfamily member 18

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,394,559...56,397,502
Ensembl chr 5:56,394,659...56,397,741

G

TNF receptor superfamily member 1B

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191

G

TNF receptor superfamily member 25

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:60,316,473...60,321,299
Ensembl chr 5:60,316,688...60,320,897

G

TNF receptor superfamily member 4

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,401,410...56,404,410
Ensembl chr 5:56,401,384...56,404,761

G

TNF receptor superfamily member 8

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:84,185,445...84,225,986
Ensembl chr 2:84,186,961...84,232,675

G

TNF receptor superfamily member 9

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:61,548,972...61,562,019
Ensembl chr 5:61,551,405...61,560,667

G

tumor protein p73

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839

G

tumor protein p63 regulated 1 like

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:58,155,178...58,159,880
Ensembl chr 5:58,157,096...58,159,880

G

tetratricopeptide repeat domain 34

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:57,470,807...57,481,874
Ensembl chr 5:57,473,001...57,490,971

G

tubulin tyrosine ligase like 10

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,364,247...56,390,899
Ensembl chr 5:56,336,884...56,388,693

G

ubiquitin conjugating enzyme E2 J2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,440,394...56,455,491
Ensembl chr 5:56,441,821...56,455,460

G

ubiquitination factor E4B

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:63,214,846...63,339,218
Ensembl chr 5:63,215,470...63,338,215

G

UbiA prenyltransferase domain containing 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:84,803,338...84,813,030
Ensembl chr 2:84,804,935...84,813,344

G

ubiquitin protein ligase E3 component n-recognin 4

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:79,403,336...79,536,385
Ensembl chr 2:79,403,351...79,536,208

G

UBX domain protein 10

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:78,670,300...78,680,361
Ensembl chr 2:78,674,817...78,675,671

G

urotensin 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:61,503,268...61,508,146

G

vesicle associated membrane protein 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:61,430,711...61,440,626
Ensembl chr 5:61,430,740...61,439,063

G

vacuolar protein sorting 13 homolog D

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:83,898,620...84,132,453
Ensembl chr 2:83,901,018...84,132,529

G

von Willebrand factor A domain containing 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:56,578,256...56,583,552
Ensembl chr 5:56,578,297...56,582,502

G

WD repeat containing, antisense to TP73

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:58,160,438...58,176,011
Ensembl chr 5:58,160,431...58,175,920

G

zinc finger and BTB domain containing 17

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 2:81,652,015...81,682,647
Ensembl chr 2:81,652,157...81,682,660

G

zinc finger and BTB domain containing 48

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 5:60,406,145...60,413,532
Ensembl chr 5:60,406,700...60,413,492

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 chr17:58,213,016...58,230,934
Ensembl chr17:58,193,586...58,230,491

G

BCL9 transcription coactivator

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

NCBI chr17:58,105,914...58,189,065
Ensembl chr17:58,168,375...58,189,062

G

chromodomain helicase DNA binding protein 1 like

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

NCBI chr17:57,725,823...57,806,065
Ensembl chr17:57,725,640...57,806,048

G

flavin containing dimethylaniline monoxygenase 5

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

NCBI chr17:57,665,879...57,698,540
Ensembl chr17:57,666,762...57,697,982

G

gap junction protein alpha 5

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

PMID:25741868 PMID:28492532

NCBI chr17:58,289,327...58,305,315
Ensembl chr17:58,289,327...58,305,315

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 chr17:58,360,313...58,428,751
Ensembl chr17:58,424,072...58,425,391

G

protein kinase AMP-activated non-catalytic subunit beta 2

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

NCBI chr17:57,614,499...57,630,041
Ensembl chr17:57,616,451...57,630,041

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 chr 7:40,296,278...40,329,818
Ensembl chr 7:40,252,697...40,329,828

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 6:38,679,312...38,712,868
Ensembl chr 6:38,679,324...38,712,648

G

apoptosis inducing factor mitochondria associated 3

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:30,520,542...30,533,256
Ensembl chr26:30,519,872...30,532,796

G

ARVCF delta catenin family member

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:29,304,710...29,359,110
Ensembl chr26:29,307,351...29,359,245

G

BCR activator of RhoGEF and GTPase

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:25741868 PMID:38177409

NCBI chr26:27,856,280...27,980,923
Ensembl chr26:27,856,082...27,978,318

G

chromosome 26 C22orf39 homolog

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:29,765,870...29,770,079
Ensembl chr26:29,765,936...29,769,471

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 chr26:30,907,953...30,912,769
Ensembl chr26:30,908,581...30,911,127

G

coiled-coil domain containing 188

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:29,189,736...29,194,606
Ensembl chr26:29,189,880...29,192,286

G

cell division cycle 45

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:29,707,523...29,738,599
Ensembl chr26:29,707,564...29,739,252

G

claudin 5

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:29,702,464...29,704,950
Ensembl chr26:29,703,683...29,704,339

G

clathrin heavy chain like 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:29,907,235...30,002,136
Ensembl chr26:29,906,278...30,002,128

G

catechol-O-methyltransferase

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008

G

CRK like proto-oncogene, adaptor protein

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:30,542,276...30,582,479
Ensembl chr26:30,545,311...30,581,964

G

DiGeorge syndrome critical region gene 2

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:30,051,598...30,143,192
Ensembl chr26:30,054,116...30,141,533

G

DiGeorge syndrome critical region gene 6 like

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:29,032,221...29,038,556

G

DGCR8 microprocessor complex subunit

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

G

ess-2 splicing factor homolog

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:30,037,954...30,048,487
Ensembl chr26:30,038,015...30,049,204

G

G protein subunit alpha z

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:25741868 PMID:38177409

NCBI chr26:27,780,598...27,811,688
Ensembl chr26:27,781,704...27,810,188

G

G protein subunit beta 1 like

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:29,454,954...29,511,019
Ensembl chr26:29,454,054...29,510,792

G

glycoprotein Ib platelet subunit beta

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:29,567,437...29,568,627
Ensembl chr26:29,528,366...29,568,522

G

goosecoid homeobox 2

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:30,033,185...30,034,174

G

HIC ZBTB transcriptional repressor 2

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:25741868 PMID:38177409

NCBI chr26:30,771,555...30,804,652
Ensembl chr26:30,776,464...30,780,173

G

histone cell cycle regulator

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:29,777,984...29,867,992
Ensembl chr26:29,778,086...29,867,559

G

kelch like family member 22

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:30,248,253...30,281,989
Ensembl chr26:30,248,240...30,281,843

G

immunoglobulin lambda-like polypeptide 5

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:25741868 PMID:38177409

NCBI chr26:28,793,360...28,804,589

G

small nucleolar RNA SNORA77

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

G

RIMS-binding protein 3A-like

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409

NCBI chr26:30,819,266...30,824,791

G

leucine rich repeat containing 74B

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:30,440,821...30,456,219
Ensembl chr26:30,441,439...30,456,178

G

leucine zipper like post translational regulator 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611

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 chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998

G

mediator complex subunit 15

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:30,299,424...30,368,460
Ensembl chr26:30,299,442...30,367,572

G

microRNA mir-1306

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:29,255,671...29,255,728
Ensembl chr26:29,255,656...29,255,735

G

microRNA mir-185

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:29,296,014...29,296,069
Ensembl chr26:29,296,004...29,296,079

G

mitochondrial ribosomal protein L40

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:29,773,397...29,777,104
Ensembl chr26:29,773,403...29,777,073

G

purinergic receptor P2X 6

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:30,456,231...30,467,674
Ensembl chr26:30,457,014...30,466,152

G

phosphatidylinositol 4-kinase alpha

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:30,630,693...30,749,158
Ensembl chr26:30,630,261...30,749,126

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 chr26:30,939,556...30,966,210
Ensembl chr26:30,939,628...30,964,880

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 chr26:31,162,810...31,193,586
Ensembl chr26:31,166,593...31,193,587

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 chr26:27,124,901...27,137,772
Ensembl chr26:27,124,902...27,136,112

G

RAB36, member RAS oncogene family

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:25741868 PMID:38177409

NCBI chr26:27,831,256...27,845,918
Ensembl chr26:27,831,196...27,844,670

G

RAN binding protein 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:29,211,559...29,219,247
Ensembl chr26:29,211,863...29,220,451

G

radial spoke head 14 homolog

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:25741868 PMID:38177409

NCBI chr26:27,749,071...27,827,433
Ensembl chr26:27,749,077...27,827,050

G

reticulon 4 receptor

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:29,109,991...29,117,319
Ensembl chr26:29,113,428...29,115,918

G

scavenger receptor class F member 2

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:30,231,967...30,243,693
Ensembl chr26:30,233,669...30,239,151

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 chr26:30,918,788...30,920,873
Ensembl chr26:30,918,811...30,920,868

G

septin 5

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:29,568,776...29,573,837
Ensembl chr26:29,569,586...29,573,842

G

serpin family D member 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:30,686,074...30,697,437
Ensembl chr26:30,686,663...30,693,848

G

solute carrier family 25 member 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:30,002,732...30,006,696
Ensembl chr26:30,002,861...30,005,444

G

solute carrier family 7 member 4

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:30,467,817...30,472,806
Ensembl chr26:30,468,789...30,471,458

G

synaptosome associated protein 29

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:30,606,195...30,630,441
Ensembl chr26:30,609,158...30,630,262

G

transport and golgi organization 2 homolog

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:29,265,489...29,303,814
Ensembl chr26:29,266,256...29,304,164

G

T-box transcription factor 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784

G

THAP domain containing 7

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:30,498,718...30,501,085
Ensembl chr26:30,498,785...30,525,906

G

transmembrane protein 191C

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409

NCBI chr26:30,757,194...30,759,723

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 chr26:31,198,371...31,223,133
Ensembl chr26:31,198,382...31,215,134

G

tRNA methyltransferase 2 homolog A

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:29,219,549...29,224,155
Ensembl chr26:29,219,812...29,226,233

G

testis specific serine kinase 2

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

G

thioredoxin reductase 2

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:29,381,823...29,430,239
Ensembl chr26:29,381,975...29,430,206

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 chr26:30,835,222...30,899,842
Ensembl chr26:30,823,209...30,898,324

G

ubiquitin recognition factor in ER associated degradation 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:29,739,062...29,763,315
Ensembl chr26:29,739,153...29,763,313

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 chr26:28,833,763...28,834,870
Ensembl chr26:28,833,136...28,834,679

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 chr26:30,904,103...30,906,015
Ensembl chr26:30,904,718...30,905,951

G

yippee like 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409

NCBI chr26:30,967,997...30,992,111
Ensembl chr26:30,968,334...30,992,334

G

zinc finger DHHC-type palmitoyltransferase 8

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:29,192,867...29,208,105
Ensembl chr26:29,193,682...29,208,105

G

zinc finger protein 280B

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409

NCBI chr26:27,074,293...27,094,898
Ensembl chr26:27,074,456...27,076,087

G

zinc finger protein 74

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr26:30,170,410...30,216,172
Ensembl chr26:30,204,293...30,215,776

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 chr26:30,520,542...30,533,256
Ensembl chr26:30,519,872...30,532,796

G

ARVCF delta catenin family member

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:29,304,710...29,359,110
Ensembl chr26:29,307,351...29,359,245

G

chromosome 26 C22orf39 homolog

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:29,765,870...29,770,079
Ensembl chr26:29,765,936...29,769,471

G

coiled-coil domain containing 188

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:29,189,736...29,194,606
Ensembl chr26:29,189,880...29,192,286

G

cell division cycle 45

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:29,707,523...29,738,599
Ensembl chr26:29,707,564...29,739,252

G

claudin 5

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:29,702,464...29,704,950
Ensembl chr26:29,703,683...29,704,339

G

clathrin heavy chain like 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:29,907,235...30,002,136
Ensembl chr26:29,906,278...30,002,128

G

catechol-O-methyltransferase

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008

G

CRK like proto-oncogene, adaptor protein

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:30,542,276...30,582,479
Ensembl chr26:30,545,311...30,581,964

G

DiGeorge syndrome critical region gene 2

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:30,051,598...30,143,192
Ensembl chr26:30,054,116...30,141,533

G

DiGeorge syndrome critical region gene 6 like

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:29,032,221...29,038,556

G

DGCR8 microprocessor complex subunit

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

G

ess-2 splicing factor homolog

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:30,037,954...30,048,487
Ensembl chr26:30,038,015...30,049,204

G

G protein subunit beta 1 like

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:29,454,954...29,511,019
Ensembl chr26:29,454,054...29,510,792

G

glycoprotein Ib platelet subunit beta

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:29,567,437...29,568,627
Ensembl chr26:29,528,366...29,568,522

G

goosecoid homeobox 2

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:30,033,185...30,034,174

G

histone cell cycle regulator

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:29,777,984...29,867,992
Ensembl chr26:29,778,086...29,867,559

G

kelch like family member 22

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:30,248,253...30,281,989
Ensembl chr26:30,248,240...30,281,843

G

small nucleolar RNA SNORA77

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

G

leucine rich repeat containing 74B

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:30,440,821...30,456,219
Ensembl chr26:30,441,439...30,456,178

G

leucine zipper like post translational regulator 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611

G

mediator complex subunit 15

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:30,299,424...30,368,460
Ensembl chr26:30,299,442...30,367,572

G

microRNA mir-1306

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:29,255,671...29,255,728
Ensembl chr26:29,255,656...29,255,735

G

microRNA mir-185

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:29,296,014...29,296,069
Ensembl chr26:29,296,004...29,296,079

G

mitochondrial ribosomal protein L40

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:29,773,397...29,777,104
Ensembl chr26:29,773,403...29,777,073

G

purinergic receptor P2X 6

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:30,456,231...30,467,674
Ensembl chr26:30,457,014...30,466,152

G

phosphatidylinositol 4-kinase alpha

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:30,630,693...30,749,158
Ensembl chr26:30,630,261...30,749,126

G

RAN binding protein 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:29,211,559...29,219,247
Ensembl chr26:29,211,863...29,220,451

G

reticulon 4 receptor

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:29,109,991...29,117,319
Ensembl chr26:29,113,428...29,115,918

G

scavenger receptor class F member 2

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:30,231,967...30,243,693
Ensembl chr26:30,233,669...30,239,151

G

septin 5

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:29,568,776...29,573,837
Ensembl chr26:29,569,586...29,573,842

G

serpin family D member 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:30,686,074...30,697,437
Ensembl chr26:30,686,663...30,693,848

G

solute carrier family 25 member 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:30,002,732...30,006,696
Ensembl chr26:30,002,861...30,005,444

G

solute carrier family 7 member 4

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:30,467,817...30,472,806
Ensembl chr26:30,468,789...30,471,458

G

synaptosome associated protein 29

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:30,606,195...30,630,441
Ensembl chr26:30,609,158...30,630,262

G

transport and golgi organization 2 homolog

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:29,265,489...29,303,814
Ensembl chr26:29,266,256...29,304,164

G

T-box transcription factor 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784

G

THAP domain containing 7

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:30,498,718...30,501,085
Ensembl chr26:30,498,785...30,525,906

G

tRNA methyltransferase 2 homolog A

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:29,219,549...29,224,155
Ensembl chr26:29,219,812...29,226,233

G

testis specific serine kinase 2

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

G

thioredoxin reductase 2

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:29,381,823...29,430,239
Ensembl chr26:29,381,975...29,430,206

G

ubiquitin recognition factor in ER associated degradation 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:29,739,062...29,763,315
Ensembl chr26:29,739,153...29,763,313

G

zinc finger DHHC-type palmitoyltransferase 8

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:29,192,867...29,208,105
Ensembl chr26:29,193,682...29,208,105

G

zinc finger protein 74

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr26:30,170,410...30,216,172
Ensembl chr26:30,204,293...30,215,776

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 chr10:61,264,605...61,459,603
Ensembl chr10:61,267,478...61,511,347

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 chr10:51,555,660...52,666,774
Ensembl chr10:51,558,452...52,667,569

chromosome 2q37 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alanine--glyoxylate and serine--pyruvate aminotransferase

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:50,968,291...50,976,089

G

ankyrin repeat and MYND domain containing 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:50,493,535...50,531,256
Ensembl chr25:50,493,519...50,531,444

G

anoctamin 7

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:51,209,628...51,226,581
Ensembl chr25:51,209,003...51,226,959

G

aquaporin 12

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:50,589,482...50,594,020

G

ankyrin repeat and SOCS box containing 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

G

autophagy related 4B cysteine peptidase

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:51,494,316...51,518,683
Ensembl chr25:51,504,537...51,517,659

G

BCL2 family apoptosis regulator BOK

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:51,449,700...51,450,967

G

calpain 10

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:50,555,402...50,566,132
Ensembl chr25:50,555,425...50,566,135

G

collagen type VI alpha 3 chain

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:47,971,439...48,052,673
Ensembl chr25:47,971,315...48,052,402

G

COP9 signalosome subunit 8

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:47,783,241...47,796,806

G

COP9 signalosome subunit 9

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

G

ciliary rootlet coiled-coil, rootletin family member 2

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:50,994,194...51,046,435
Ensembl chr25:51,004,465...51,038,700

G

D-2-hydroxyglutarate dehydrogenase

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:51,561,821...51,576,852
Ensembl chr25:51,553,404...51,576,570

G

deoxythymidylate kinase

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:51,520,307...51,535,407
Ensembl chr25:51,520,581...51,526,069
Ensembl chr25:51,520,581...51,526,069

G

dual specificity phosphatase 28

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:50,533,767...50,537,513

G

erythroferrone

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:48,656,576...48,665,620

G

espin like

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:48,609,340...48,634,397

G

FERM, ARH/RhoGEF and pleckstrin domain protein 2

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:51,331,876...51,425,754
Ensembl chr25:51,332,409...51,425,449

G

galactose-3-O-sulfotransferase 2

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:51,581,449...51,594,240
Ensembl chr25:51,581,546...51,597,774

G

glypican 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:50,484,554...50,492,940
Ensembl chr25:50,482,071...50,515,877

G

G protein-coupled receptor 35

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:50,566,263...50,841,473

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 chr25:49,318,621...49,545,314
Ensembl chr25:49,317,349...49,453,478

G

high density lipoprotein binding protein

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:51,228,194...51,296,743
Ensembl chr25:51,228,371...51,297,942

G

hes family bHLH transcription factor 6

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:48,710,694...48,713,392

G

ILK associated serine/threonine phosphatase

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:48,666,850...48,689,405
Ensembl chr25:48,666,849...48,689,381

G

inhibitor of growth family member 5

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:51,535,521...51,556,264
Ensembl chr25:51,534,753...51,554,644

G

kinesin family member 1A

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:50,855,703...50,945,014
Ensembl chr25:50,858,698...50,944,964

G

kelch like family member 30

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:48,638,889...48,650,050
Ensembl chr25:48,640,753...48,648,830

G

LRR binding FLII interacting protein 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:48,292,968...48,370,727
Ensembl chr25:48,292,720...48,370,469

G

mab-21 like 4

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:50,731,528...50,738,661

G

melanophilin

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:48,121,499...48,167,535
Ensembl chr25:48,121,499...48,170,710

G

mitochondrial transcription termination factor 4

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:51,129,186...51,144,452

G

NADH:ubiquinone oxidoreductase subunit A10

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:49,920,748...49,968,966
Ensembl chr25:49,920,894...49,968,901

G

neuraminidase 4

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:51,594,865...51,602,500

G

olfactory receptor family 6 subfamily B member 2

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:49,989,139...49,990,077
Ensembl chr25:49,989,139...49,990,077

G

otospiralin

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:50,304,308...50,308,209
Ensembl chr25:50,304,312...50,306,339

G

PAS domain containing serine/threonine kinase

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:51,145,094...51,181,040
Ensembl chr25:51,144,912...51,177,818

G

programmed cell death 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723

G

period circadian regulator 2

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:48,716,499...48,761,617
Ensembl chr25:48,717,173...48,758,755

G

protein phosphatase 1 regulatory subunit 7

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:51,181,092...51,206,237
Ensembl chr25:51,181,053...51,206,193

G

prolactin releasing hormone

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:48,180,216...48,181,105
Ensembl chr25:48,178,598...48,181,155

G

RAB17, member RAS oncogene family

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:48,181,557...48,220,729
Ensembl chr25:48,188,085...48,203,149

G

receptor activity modifying protein 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:48,431,136...48,466,070
Ensembl chr25:48,437,919...48,466,070

G

RNA binding motif protein 44

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:48,378,913...48,420,011
Ensembl chr25:48,378,970...48,410,104

G

arginyl aminopeptidase like 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:50,539,494...50,549,141
Ensembl chr25:50,543,752...50,548,847

G

receptor transporter protein 5 (putative)

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:51,625,156...51,628,670

G

selenocysteine lyase

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:48,574,648...48,608,367
Ensembl chr25:48,574,130...48,632,035

G

septin 2

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:51,296,486...51,330,508
Ensembl chr25:51,296,554...51,328,616

G

sushi, nidogen and EGF like domains 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:51,057,358...51,139,808
Ensembl chr25:51,057,376...51,135,412

G

serine/threonine kinase 25

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:51,425,597...51,434,479
Ensembl chr25:51,425,597...51,434,479

G

THAP domain containing 4

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:51,456,349...51,480,753
Ensembl chr25:51,456,344...51,494,367

G

TRAF3 interacting protein 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:48,782,448...48,836,993
Ensembl chr25:48,782,463...48,834,374

G

twist family bHLH transcription factor 2

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:49,165,450...49,216,545
Ensembl chr25:49,165,641...49,166,123

G

ubiquitin conjugating enzyme E2 F (putative)

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr25:48,503,866...48,558,950
Ensembl chr25:48,503,833...48,558,986

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 chr20:9,384,901...9,398,055
Ensembl chr20:9,384,901...9,401,196

G

oxytocin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr20:9,358,797...9,382,308
Ensembl chr20:9,358,916...9,378,343

G

SLIT-ROBO Rho GTPase activating protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr20:8,894,150...9,147,060
Ensembl chr20:8,894,155...9,142,066

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 chr33:29,733,860...29,740,836
Ensembl chr33:29,735,351...29,741,128

G

discs large MAGUK scaffold protein 1

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr33:30,016,323...30,253,180
Ensembl chr33:30,016,600...30,253,547

G

dynein light chain Tctex-type 2B

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr33:29,414,484...29,430,439

G

F-box protein 45

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr33:29,627,762...29,642,175
Ensembl chr33:29,635,831...29,639,189

G

melanotransferrin

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr33:29,985,007...30,006,437
Ensembl chr33:29,985,206...30,003,742

G

nuclear cap binding protein subunit 2

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr33:29,911,457...29,943,596
Ensembl chr33:29,912,569...29,962,175

G

NCBP2 antisense 2 (head to head)

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

G

negative regulator of reactive oxygen species

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr33:29,682,182...29,699,469
Ensembl chr33:29,692,371...29,767,771

G

p21 (RAC1) activated kinase 2

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr33:29,774,645...29,863,661
Ensembl chr33:29,774,593...29,987,478

G

phosphate cytidylyltransferase 1A, choline

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr33:29,363,282...29,414,635
Ensembl chr33:29,358,452...29,430,424

G

phosphatidylinositol glycan anchor biosynthesis class X

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr33:29,740,435...29,767,931
Ensembl chr33:29,692,371...29,767,771

G

phosphatidylinositol glycan anchor biosynthesis class Z

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr33:29,945,980...29,965,906

G

ring finger protein 168

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr33:29,542,209...29,575,127
Ensembl chr33:29,539,182...29,628,248

G

SUMO specific peptidase 5

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr33:29,877,642...29,935,367
Ensembl chr33:29,878,163...29,934,111

G

solute carrier family 51 member A

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr33:29,336,000...29,361,782
Ensembl chr33:29,336,552...29,361,738

G

single-pass membrane protein with coiled-coil domains 1

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr33:29,579,230...29,584,715
Ensembl chr33:29,579,696...29,584,639

G

transferrin receptor

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242

G

tyrosine kinase non receptor 2

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr33:29,153,636...29,177,568
Ensembl chr33:29,152,851...29,179,718

G

UBX domain protein 7

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr33:29,454,233...29,511,753
Ensembl chr33:29,457,337...29,511,703

G

WD repeat domain 53

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr33:29,614,542...29,627,983

G

zinc finger DHHC-type palmitoyltransferase 19

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr33:29,332,947...29,335,942
Ensembl chr33:29,332,959...29,336,531

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 chr32:7,298,789...7,316,665
Ensembl chr32:7,298,790...7,317,001

G

CDP-diacylglycerol synthase 1

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr32:8,349,033...8,416,451
Ensembl chr32:8,349,027...8,415,295

G

COP9 signalosome subunit 4

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr32:6,957,189...6,997,573
Ensembl chr32:6,957,390...6,997,180

G

coenzyme Q2, polyprenyltransferase

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr32:7,143,476...7,162,765
Ensembl chr32:7,139,126...7,162,764

G

enolase-phosphatase 1

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr32:6,408,778...6,451,606
Ensembl chr32:6,407,460...6,450,790

G

glycerol-3-phosphate acyltransferase 3

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr32:7,355,154...7,414,921
Ensembl chr32:7,353,965...7,414,493

G

helicase, POLQ like

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr32:7,245,867...7,290,138
Ensembl chr32:7,245,230...7,290,014

G

heterogeneous nuclear ribonucleoprotein D

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr32:6,323,444...6,341,238
Ensembl chr32:6,323,469...6,341,166

G

heterogeneous nuclear ribonucleoprotein D like

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr32:6,401,266...6,408,006
Ensembl chr32:6,402,762...6,407,845

G

heparanase

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr32:7,166,437...7,199,659
Ensembl chr32:7,167,856...7,199,665

G

lin-54 DREAM MuvB core complex component

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr32:6,876,111...6,940,754
Ensembl chr32:6,878,187...6,941,268

G

mitochondrial ribosomal protein S18C

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr32:7,290,554...7,295,342
Ensembl chr32:7,290,584...7,298,989

G

NK6 homeobox 1

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr32:8,256,513...8,263,238
Ensembl chr32:8,256,254...8,262,004

G

placenta associated 8 B

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr32:7,004,147...7,049,877
Ensembl chr32:7,007,753...7,029,140

G

stearoyl-CoA desaturase 5

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr32:6,594,607...6,745,379
Ensembl chr32:6,595,424...6,745,308

G

SEC31 homolog A, COPII coat complex component

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr32:6,761,018...6,840,802
Ensembl chr32:6,761,289...6,840,709

G

THAP domain containing 9

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr32:6,852,057...6,875,660
Ensembl chr32:6,852,116...6,870,696

G

transmembrane protein 150C

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr32:6,465,047...6,552,492
Ensembl chr32:6,466,035...6,539,078

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 4:36,740,964...36,777,118
Ensembl chr 4:36,740,966...36,777,803

G

eukaryotic translation initiation factor 4E family member 1B

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 4:36,695,229...36,701,988
Ensembl chr 4:36,695,107...36,699,254

G

Fas associated factor family member 2

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 4:36,819,754...36,890,901
Ensembl chr 4:36,822,735...36,890,839

G

fibroblast growth factor receptor 4

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 4:36,243,689...36,254,636
Ensembl chr 4:36,244,220...36,252,035

G

G protein regulated inducer of neurite outgrowth 1

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 4:36,736,323...36,740,305
Ensembl chr 4:36,736,818...36,739,442

G

hexokinase 3

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 4:36,471,389...36,491,757
Ensembl chr 4:36,472,949...36,529,903

G

lectin, mannose binding 2

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 4:36,002,963...36,023,788
Ensembl chr 4:36,002,341...36,023,787

G

MAX dimerization protein 3

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 4:36,044,432...36,054,828
Ensembl chr 4:36,046,982...36,050,899

G

nuclear receptor binding SET domain protein 1

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 4:36,058,351...36,214,254
Ensembl chr 4:36,063,134...36,210,999

G

PRELI domain containing 1

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 4:36,051,562...36,055,080
Ensembl chr 4:36,051,879...36,055,043

G

RAB24, member RAS oncogene family

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 4:36,055,190...36,059,945
Ensembl chr 4:36,055,185...36,057,136

G

regulator of G protein signaling 14

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 4:35,984,970...35,999,386
Ensembl chr 4:35,985,132...35,999,294

G

ring finger protein 44

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 4:36,785,556...36,818,688
Ensembl chr 4:36,791,672...36,800,129

G

synuclein beta

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 4:36,710,236...36,719,455
Ensembl chr 4:36,616,039...36,764,501

G

tetraspanin 17

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 4:36,683,707...36,694,204
Ensembl chr 4:36,685,337...36,694,183

G

ubiquitin interaction motif containing 1

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 4:36,339,711...36,467,035
Ensembl chr 4:36,354,922...36,466,880

G

unc-5 netrin receptor A

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 4:36,489,583...36,551,743
Ensembl chr 4:36,490,578...36,551,935

G

zinc finger protein 346

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 4:36,269,126...36,303,647
Ensembl chr 4:36,271,853...36,303,594

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 chr13:37,240,405...37,247,603
Ensembl chr13:37,239,150...37,255,958

G

KLF transcription factor 1

mRNA:decreased expression:bone marrow, blood

NCBI chr20:49,295,097...49,298,668
Ensembl chr20:49,295,195...49,298,602

G

ribosomal protein S14

NCBI chr 4:58,661,335...58,667,968
Ensembl chr 4:58,661,152...58,667,964

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 1:41,614,893...41,712,350
Ensembl chr 1:41,614,714...41,709,798

G

AT-rich interaction domain 1B

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104

G

acidic residue methyltransferase 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:41,799,853...41,814,684
Ensembl chr 1:41,799,868...41,813,766

G

coiled-coil domain containing 170

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:41,858,005...41,932,286
Ensembl chr 1:41,858,020...41,932,260

G

claudin 20

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:45,013,689...45,020,882
Ensembl chr 1:45,018,095...45,018,754

G

CNKSR family member 3

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:44,280,132...44,361,138
Ensembl chr 1:44,070,004...44,363,107

G

dynein light chain Tctex-type 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:48,058,804...48,066,389
Ensembl chr 1:48,058,804...48,066,609

G

estrogen receptor 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544

G

ezrin

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:48,160,206...48,210,036
Ensembl chr 1:48,160,206...48,210,036

G

F-box protein 5

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:43,138,338...43,149,546
Ensembl chr 1:43,138,889...43,149,297

G

fibronectin type III domain containing 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:48,501,657...48,602,962
Ensembl chr 1:48,501,355...48,602,336

G

general transcription factor IIH subunit 5

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:47,669,196...47,681,370
Ensembl chr 1:47,669,248...47,681,368

G

interaction protein for cytohesin exchange factors 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:44,066,398...44,164,173
Ensembl chr 1:44,070,004...44,363,107

G

iodotyrosine deiodinase

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:40,890,402...40,908,437
Ensembl chr 1:40,890,435...40,908,439

G

methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:41,316,247...41,495,226
Ensembl chr 1:41,309,419...41,495,216

G

mitochondrial translation release factor 1 like

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:43,155,285...43,166,707
Ensembl chr 1:43,155,419...43,166,691

G

MYC target 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:42,886,997...42,908,813
Ensembl chr 1:42,830,099...42,925,680

G

NADPH oxidase 3

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:45,129,112...45,186,510
Ensembl chr 1:45,128,958...45,186,510

G

opioid receptor mu 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:43,972,915...44,037,477
Ensembl chr 1:43,972,219...44,141,238

G

pleckstrin homology and RhoGEF domain containing G1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:41,073,748...41,297,380
Ensembl chr 1:41,072,500...41,295,138

G

regulator of G protein signaling 17

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:43,170,815...43,264,277
Ensembl chr 1:43,174,861...43,264,233

G

required for meiotic nuclear division 1 homolog

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:41,755,099...41,799,589
Ensembl chr 1:41,755,191...41,799,847

G

radial spoke head 3

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:48,329,171...48,349,924
Ensembl chr 1:48,329,211...48,349,088

G

SR-related CTD associated factor 8

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:44,562,589...44,777,864
Ensembl chr 1:44,562,567...44,683,903

G

serine active site containing 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:47,599,802...47,651,034
Ensembl chr 1:47,578,472...47,669,494

G

sorting nexin 9

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:47,346,214...47,457,417
Ensembl chr 1:47,343,668...47,455,937

G

spectrin repeat containing nuclear envelope protein 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:42,384,136...42,831,229
Ensembl chr 1:42,384,038...42,823,388

G

synaptojanin 2

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:47,506,925...47,582,353
Ensembl chr 1:47,483,942...47,579,831

G

synaptotagmin like 3

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:48,066,449...48,159,980
Ensembl chr 1:48,067,612...48,159,936

G

T cell activation RhoGTPase activating protein

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:48,382,688...48,392,977
Ensembl chr 1:48,383,504...48,392,188

G

transcription factor B1, mitochondrial

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:45,001,095...45,071,361
Ensembl chr 1:45,001,088...45,071,518

G

TIAM Rac1 associated GEF 2

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:44,897,699...45,001,094
Ensembl chr 1:44,870,103...45,002,684

G

transmembrane protein 181

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:47,969,247...48,058,207
Ensembl chr 1:47,983,174...48,055,111

G

transmembrane protein 242

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:46,870,428...46,901,079
Ensembl chr 1:46,872,312...46,901,322

G

TUB like protein 4

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:47,727,642...47,952,818
Ensembl chr 1:47,791,993...47,951,710

G

vasoactive intestinal peptide

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:42,941,655...42,950,160
Ensembl chr 1:42,941,224...42,950,700

G

zinc finger and BTB domain containing 2

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:41,719,251...41,743,007
Ensembl chr 1:41,719,239...41,743,392

G

zinc finger DHHC-type palmitoyltransferase 14

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 1:46,943,515...47,220,907
Ensembl chr 1:46,943,590...47,216,320

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 chr18:17,286,319...17,405,120
Ensembl chr18:17,304,941...17,404,914

G

C-C motif chemokine ligand 24

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 6:7,166,165...7,179,606
Ensembl chr 6:7,166,479...7,180,051

G

C-C motif chemokine ligand 26

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 6:7,151,352...7,154,509
Ensembl chr 6:7,151,212...7,154,726

G

deltex E3 ubiquitin ligase 2

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 6:7,605,496...7,644,215
Ensembl chr 6:7,605,876...7,644,219

G

fibrinogen like 2

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr18:17,328,794...17,335,429
Ensembl chr18:17,331,780...17,335,401

G

gamma-secretase activating protein

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr18:17,406,903...17,479,429
Ensembl chr18:17,407,532...17,484,688

G

huntingtin interacting protein 1

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 6:6,957,760...7,115,676
Ensembl chr 6:6,961,053...7,115,618

G

heat shock protein family B (small) member 1

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 6:7,487,164...7,488,576
Ensembl chr 6:7,487,250...7,488,576

G

small nucleolar RNA SNORA14

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

G

general transcription factor II-I repeat domain-containing protein 2

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 6:5,635,276...5,698,829

G

membrane associated guanylate kinase, WW and PDZ domain containing 2

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr18:17,973,058...19,098,785
Ensembl chr18:17,918,928...18,930,059

G

malate dehydrogenase 2

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 6:7,389,266...7,405,311

G

putative homeodomain transcription factor 2

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr18:17,810,450...17,923,837
Ensembl chr18:17,810,469...17,921,645

G

POM121 transmembrane nucleoporin C

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 6:6,900,191...6,926,128

G

cytochrome p450 oxidoreductase

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 6:7,247,780...7,316,282
Ensembl chr 6:7,263,574...7,316,297

G

protein tyrosine phosphatase non-receptor type 12

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr18:17,608,665...17,692,543
Ensembl chr18:17,607,936...17,692,219

G

RCC1 like

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 6:5,605,320...5,632,152

G

rhomboid domain containing 2

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 6:7,218,796...7,230,949
Ensembl chr 6:7,218,853...7,232,321

G

round spermatid basic protein 1 like

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr18:17,756,082...17,798,398
Ensembl chr18:17,768,269...17,795,197

G

serine/arginine repetitive matrix 3

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 6:7,426,779...7,481,780
Ensembl chr 6:7,426,560...7,471,140

G

scavenger receptor cysteine rich family member with 4 domains

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 6:7,555,071...7,565,177
Ensembl chr 6:7,555,790...7,564,686

G

serine/threonine/tyrosine interacting like 1

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 6:7,323,911...7,389,878
Ensembl chr 6:7,316,477...7,389,842

G

transmembrane protein 120A

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 6:7,316,257...7,321,992
Ensembl chr 6:7,316,477...7,389,842

G

transmembrane protein 60

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr18:17,805,884...17,810,095
Ensembl chr18:17,806,128...17,806,529

G

uroplakin 3B

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 6:7,646,225...7,651,029
Ensembl chr 6:7,646,583...7,650,118

G

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

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 6:7,504,834...7,548,097
Ensembl chr 6:7,507,608...7,532,409

G

zona pellucida glycoprotein 3

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 6:7,586,212...7,594,610
Ensembl chr 6:7,585,970...7,594,610

chromosome 9p deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bromodomain containing 10

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr11:26,926,791...27,042,608
Ensembl chr11:26,927,438...27,042,536

G

CD274 molecule

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522

G

cell division cycle 37 like 1, HSP90 cochaperone

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:93,056,912...93,083,963
Ensembl chr 1:93,056,985...93,082,638

G

distal membrane arm assembly component 1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr11:28,658,157...28,660,697
Ensembl chr11:28,659,279...28,660,692

G

doublesex and mab-3 related transcription factor 1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:89,677,554...89,790,692
Ensembl chr 1:89,677,533...89,790,145

G

doublesex and mab-3 related transcription factor 2

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:89,873,380...89,880,944
Ensembl chr 1:89,875,670...89,880,641

G

doublesex and mab-3 related transcription factor 3

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:89,798,215...89,813,140
Ensembl chr 1:89,798,100...89,812,328

G

dedicator of cytokinesis 8

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:89,152,456...89,379,203
Ensembl chr 1:89,150,856...89,378,013

G

endoplasmic reticulum metallopeptidase 1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:93,845,874...94,008,266
Ensembl chr 1:93,846,269...93,957,359

G

FRAS1 related extracellular matrix 1

OMIM:158170

NCBI chr11:35,174,390...35,338,983
Ensembl chr11:35,176,934...35,310,335

G

glycine decarboxylase

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr11:27,491,639...27,584,450
Ensembl chr11:27,414,834...27,584,450

G

GLIS family zinc finger 3

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:92,278,521...92,824,303
Ensembl chr 1:92,282,164...92,734,468

G

interleukin 33

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721

G

insulin like 6

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:93,457,854...93,474,777
Ensembl chr 1:93,459,945...93,474,793

G

Janus kinase 2

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997

G

KN motif and ankyrin repeat domains 1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:89,446,340...89,618,716
Ensembl chr 1:89,480,399...89,618,143

G

potassium voltage-gated channel modifier subfamily V member 2

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:91,338,401...91,350,537
Ensembl chr 1:91,338,401...91,349,967

G

lysine demethylase 4C

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr11:27,662,764...28,101,432
Ensembl chr11:27,693,536...28,101,801

G

GTP:AMP phosphotransferase AK3, mitochondrial

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:10,282,452...10,283,479

G

microRNA mir-101-2

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:93,194,328...93,194,382
Ensembl chr 1:93,194,309...93,194,399

G

melan-A

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr11:26,838,766...26,913,337
Ensembl chr11:26,900,767...26,913,334

G

programmed cell death 1 ligand 2

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:93,631,676...93,698,560
Ensembl chr 1:93,631,979...93,689,266

G

plasminogen receptor with a C-terminal lysine

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:93,523,415...93,576,908
Ensembl chr 1:93,523,572...93,575,747

G

phospholipid phosphatase 6

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:93,037,252...93,040,150
Ensembl chr 1:93,037,252...93,038,181

G

protein tyrosine phosphatase receptor type D

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr11:29,100,913...31,278,495
Ensembl chr11:29,104,448...29,501,600

G

pumilio RNA binding family member 3

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:91,391,619...91,436,378
Ensembl chr 1:91,391,627...91,436,310

G

RAN binding protein 6

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr11:27,045,626...27,050,264

G

RNA terminal phosphate cyclase like 1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:93,144,164...93,204,233
Ensembl chr 1:93,142,635...93,435,997

G

regulatory factor X3

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:91,773,492...92,060,895
Ensembl chr 1:91,778,481...92,059,792

G

RIC1 homolog, RAB6A GEF complex partner 1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:93,735,158...93,843,331
Ensembl chr 1:93,735,077...93,841,401

G

relaxin 2

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:93,500,682...93,505,098
Ensembl chr 1:93,500,682...93,505,098

G

solute carrier family 1 member 1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:92,898,274...92,978,260
Ensembl chr 1:92,898,274...92,978,260

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 1:90,709,221...90,884,295
Ensembl chr 1:90,712,520...90,883,622

G

spermatogenesis associated 6 like

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:92,994,949...93,041,135
Ensembl chr 1:92,994,946...93,041,135

G

TPD52 like 3

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr11:27,353,537...27,355,204
Ensembl chr11:27,353,873...27,354,238

G

ubiquitin like with PHD and ring finger domains 2

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr11:27,406,275...27,474,971
Ensembl chr11:27,405,977...27,623,005

G

very low density lipoprotein receptor

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:91,242,010...91,277,030
Ensembl chr 1:91,241,509...91,272,495

G

WASH complex subunit 1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr27:42,102,694...42,118,850
Ensembl chr27:42,099,886...42,116,339

G

Zn regulated GTPase metalloprotein activator 1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 1:89,063,511...89,120,995
Ensembl chr 1:89,063,511...89,121,360

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 chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

G

RAD51 paralog D

CTD Direct Evidence: marker/mechanism

NCBI chr 9:38,242,178...38,259,788
Ensembl chr 9:38,222,051...38,365,621

G

SH3 and multiple ankyrin repeat domains 3

NCBI chr10:16,621,445...16,665,366

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 chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951

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 chr 5:41,369,484...41,421,303
Ensembl chr 5:41,370,509...41,392,881

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 chr30:10,471,798...10,487,948
Ensembl chr30:10,471,814...10,487,739

G

creatine kinase U-type, mitochondrial

ClinVar Annotator: match by term: Deafness-infertility syndrome

NCBI chr30:10,438,566...10,444,532

G

protein disulfide isomerase family A member 3

ClinVar Annotator: match by term: Deafness-infertility syndrome

NCBI chr30:10,487,926...10,513,437
Ensembl chr30:10,487,921...10,513,397

G

diphosphoinositol pentakisphosphate kinase 1

ClinVar Annotator: match by term: Deafness-infertility syndrome

NCBI chr30:10,383,733...10,436,423
Ensembl chr30:10,384,791...10,426,533

G

stereocilin

ClinVar Annotator: match by term: Deafness-infertility syndrome

PMID:18414213 PMID:21078986 PMID:22147502 PMID:24033266 PMID:25157971 More...

NCBI chr30:10,444,726...10,459,058
Ensembl chr30:10,444,793...10,460,785

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 chr26:30,520,542...30,533,256
Ensembl chr26:30,519,872...30,532,796

G

aldehyde dehydrogenase 1 family member A2

OMIM:188400

NCBI chr30:23,074,432...23,170,374
Ensembl chr30:23,074,432...23,340,030

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 chr26:29,304,710...29,359,110
Ensembl chr26:29,307,351...29,359,245

G

BCR activator of RhoGEF and GTPase

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr26:27,856,280...27,980,923
Ensembl chr26:27,856,082...27,978,318

G

chromosome 26 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 chr26:29,765,870...29,770,079
Ensembl chr26:29,765,936...29,769,471

G

coiled-coil domain containing 116

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr26:30,907,953...30,912,769
Ensembl chr26:30,908,581...30,911,127

G

coiled-coil domain containing 188

ClinVar Annotator: match by term: 22q11.2 deletion syndrome

NCBI chr26:29,189,736...29,194,606
Ensembl chr26:29,189,880...29,192,286

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 chr26:29,707,523...29,738,599
Ensembl chr26:29,707,564...29,739,252

G

chordin

OMIM:188400

NCBI chr34:17,255,770...17,264,776
Ensembl chr34:17,255,562...17,271,713

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 chr26:29,702,464...29,704,950
Ensembl chr26:29,703,683...29,704,339

G

clathrin heavy chain like 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 chr26:29,907,235...30,002,136
Ensembl chr26:29,906,278...30,002,128

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 chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008

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 chr26:30,542,276...30,582,479
Ensembl chr26:30,545,311...30,581,964

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 chr26:30,051,598...30,143,192
Ensembl chr26:30,054,116...30,141,533

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 chr26:29,032,221...29,038,556

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...

G

dicer 1, ribonuclease III

OMIM:188400

NCBI chr 8:63,970,245...64,029,438
Ensembl chr 8:63,972,027...64,019,879

G

dedicator of cytokinesis 1

OMIM:188400

NCBI chr28:35,862,267...36,397,666
Ensembl chr28:35,861,523...36,396,883

G

dishevelled segment polarity protein 1

NCBI chr 5:56,507,803...56,519,382
Ensembl chr 5:56,507,739...56,519,491

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 chr26:30,037,954...30,048,487
Ensembl chr26:30,038,015...30,049,204

G

fibroblast growth factor 8

CTD Direct Evidence: marker/mechanism
OMIM:188400

NCBI chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468

G

forkhead box N1

OMIM:188400

NCBI chr 9:42,734,228...42,749,856
Ensembl chr 9:42,735,656...42,748,632

G

G protein subunit alpha z

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr26:27,780,598...27,811,688
Ensembl chr26:27,781,704...27,810,188

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 chr26:29,454,954...29,511,019
Ensembl chr26:29,454,054...29,510,792

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 chr26:29,567,437...29,568,627
Ensembl chr26:29,528,366...29,568,522

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 chr26:30,033,185...30,034,174

G

HIC ZBTB transcriptional repressor 2

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr26:30,771,555...30,804,652
Ensembl chr26:30,776,464...30,780,173

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 chr26:29,777,984...29,867,992
Ensembl chr26:29,778,086...29,867,559

G

HNF1 homeobox A

ClinVar Annotator: match by term: DiGeorge syndrome

PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More...

NCBI chr26:16,805,690...16,826,065
Ensembl chr26:16,805,690...16,824,790

G

homeobox A3

OMIM:188400

NCBI chr14:40,280,866...40,326,559
Ensembl chr14:40,280,861...40,296,147

G

lysine acetyltransferase 6A

OMIM:188400

NCBI chr16:23,604,629...23,717,047
Ensembl chr16:23,604,200...23,724,252

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 chr26:30,248,253...30,281,989
Ensembl chr26:30,248,240...30,281,843

G

immunoglobulin lambda-like polypeptide 5

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr26:28,793,360...28,804,589

G

small nucleolar RNA SNORA77

ClinVar Annotator: match by term: 22q11.2 deletion syndrome

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 chr26:29,039,007...29,059,722

G

RIMS-binding protein 3A-like

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr26:30,819,266...30,824,791

G

leucine rich repeat containing 74B

ClinVar Annotator: match by term: 22q11.2 deletion syndrome

NCBI chr26:30,440,821...30,456,219
Ensembl chr26:30,441,439...30,456,178

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 chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611

G

mitogen-activated protein kinase 1

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998

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 chr26:30,299,424...30,368,460
Ensembl chr26:30,299,442...30,367,572

G

microtubule associated monooxygenase, calponin and LIM domain containing 3

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr27:45,399,370...45,618,306
Ensembl chr27:45,403,392...45,550,055

G

microRNA mir-1306

ClinVar Annotator: match by term: 22q11.2 deletion syndrome

NCBI chr26:29,255,671...29,255,728
Ensembl chr26:29,255,656...29,255,735

G

microRNA mir-185

ClinVar Annotator: match by term: 22q11.2 deletion syndrome

NCBI chr26:29,296,014...29,296,069
Ensembl chr26:29,296,004...29,296,079

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 chr26:29,773,397...29,777,104
Ensembl chr26:29,773,403...29,777,073

G

N-deacetylase and N-sulfotransferase 1

OMIM:188400

NCBI chr 4:58,580,231...58,639,750
Ensembl chr 4:58,532,148...58,640,191

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 chr26:30,456,231...30,467,674
Ensembl chr26:30,457,014...30,466,152

G

peroxisomal biogenesis factor 26

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr27:45,675,537...45,688,026
Ensembl chr27:45,675,472...45,725,681

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 chr26:30,630,693...30,749,158
Ensembl chr26:30,630,261...30,749,126

G

plexin D1

OMIM:188400

NCBI chr20:5,554,814...5,610,417
Ensembl chr20:5,554,708...5,610,122

G

peptidylprolyl isomerase like 2

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr26:30,939,556...30,966,210
Ensembl chr26:30,939,628...30,964,880

G

protein phosphatase, Mg2+/Mn2+ dependent 1F

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr26:31,162,810...31,193,586
Ensembl chr26:31,166,593...31,193,587

G

PRAME nuclear receptor transcriptional regulator

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr26:27,124,901...27,137,772
Ensembl chr26:27,124,902...27,136,112

G

RAB36, member RAS oncogene family

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr26:27,831,256...27,845,918
Ensembl chr26:27,831,196...27,844,670

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 chr26:29,211,559...29,219,247
Ensembl chr26:29,211,863...29,220,451

G

radial spoke head 14 homolog

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr26:27,749,071...27,827,433
Ensembl chr26:27,749,077...27,827,050

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 chr26:29,109,991...29,117,319
Ensembl chr26:29,113,428...29,115,918

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 chr26:30,231,967...30,243,693
Ensembl chr26:30,233,669...30,239,151

G

stromal cell derived factor 2 like 1

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr26:30,918,788...30,920,873
Ensembl chr26:30,918,811...30,920,868

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 chr26:29,568,776...29,573,837
Ensembl chr26:29,569,586...29,573,842

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 chr26:30,686,074...30,697,437
Ensembl chr26:30,686,663...30,693,848

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 chr26:30,002,732...30,006,696
Ensembl chr26:30,002,861...30,005,444

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 chr26:30,467,817...30,472,806
Ensembl chr26:30,468,789...30,471,458

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 chr26:30,606,195...30,630,441
Ensembl chr26:30,609,158...30,630,262

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 chr26:27,994,278...28,127,383
Ensembl chr26:28,025,987...28,125,695

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 chr26:29,265,489...29,303,814
Ensembl chr26:29,266,256...29,304,164

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 chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784

G

transforming growth factor beta receptor 2

OMIM:188400

NCBI chr23:13,886,869...13,946,480
Ensembl chr23:13,889,000...13,977,636

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 chr26:30,498,718...30,501,085
Ensembl chr26:30,498,785...30,525,906

G

transmembrane protein 191C

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr26:30,757,194...30,759,723

G

DNA topoisomerase III beta

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr26:31,198,371...31,223,133
Ensembl chr26:31,198,382...31,215,134

G

tumor protein p53

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

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 chr26:29,219,549...29,224,155
Ensembl chr26:29,219,812...29,226,233

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...

G

tubulin alpha 8

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr27:45,706,576...45,725,679
Ensembl chr27:45,675,472...45,725,681

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 chr26:29,381,823...29,430,239
Ensembl chr26:29,381,975...29,430,206

G

ubiquitin conjugating enzyme E2 L3

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr26:30,835,222...30,899,842
Ensembl chr26:30,823,209...30,898,324

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 chr26:29,739,062...29,763,315
Ensembl chr26:29,739,153...29,763,313

G

ubiquitin specific peptidase 18

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr27:45,739,845...45,814,668

G

vascular endothelial growth factor A

OMIM:188400

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

G

V-set pre-B cell surrogate light chain 1

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr26:28,833,763...28,834,870
Ensembl chr26:28,833,136...28,834,679

G

YdjC chitooligosaccharide deacetylase homolog

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr26:30,904,103...30,906,015
Ensembl chr26:30,904,718...30,905,951

G

yippee like 1

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr26:30,967,997...30,992,111
Ensembl chr26:30,968,334...30,992,334

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 chr26:29,192,867...29,208,105
Ensembl chr26:29,193,682...29,208,105

G

zinc finger protein 280B

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr26:27,074,293...27,094,898
Ensembl chr26:27,074,456...27,076,087

G

zinc finger protein 366

OMIM:188400

NCBI chr 2:55,455,419...55,511,302
Ensembl chr 2:55,458,702...55,526,228

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 chr26:30,170,410...30,216,172
Ensembl chr26:30,204,293...30,215,776

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 chr 2:11,892,132...12,234,421
Ensembl chr 2:11,858,209...12,229,718

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 chr28:35,154,899...35,484,852
Ensembl chr28:35,158,126...35,485,573

G

ADAM metallopeptidase domain 8

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:40,853,665...40,865,604
Ensembl chr28:40,855,509...40,863,747

G

adhesion G protein-coupled receptor A1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:40,725,631...40,747,809
Ensembl chr28:40,734,168...40,746,999

G

BCL2 interacting protein 3

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:40,037,681...40,050,499
Ensembl chr28:40,038,643...40,049,797

G

chromosome 28 C10orf90 homolog

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:35,514,489...35,721,091
Ensembl chr28:35,515,286...35,720,509

G

calcyon neuron specific vesicular protein

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:40,918,341...40,925,161
Ensembl chr28:40,918,343...40,925,070

G

cilia and flagella associated protein 46

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:40,581,808...40,674,124
Ensembl chr28:40,581,841...40,676,168

G

clarin 3

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:36,719,441...36,734,519
Ensembl chr28:36,721,645...36,734,623

G

cytochrome P450 family 2 subfamily E member 1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754

G

DEAH-box helicase 32 (putative)

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:34,999,030...35,035,964
Ensembl chr28:34,999,204...35,035,964

G

dedicator of cytokinesis 1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:35,862,267...36,397,666
Ensembl chr28:35,861,523...36,396,883

G

dihydropyrimidinase like 4

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:40,171,461...40,185,910
Ensembl chr28:40,171,239...40,185,481

G

EBF transcription factor 3

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:38,489,635...38,601,800
Ensembl chr28:38,491,047...38,602,022

G

enoyl-CoA hydratase, short chain 1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167

G

fibronectin type III and ankyrin repeat domains 1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:35,042,045...35,152,282
Ensembl chr28:35,095,689...35,152,276

G

forkhead box I2

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:36,636,733...36,638,597
Ensembl chr28:36,636,733...36,640,811

G

fucose mutarotase

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:40,933,140...40,936,722

G

glutaredoxin 3

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:38,724,895...38,755,323
Ensembl chr28:38,724,941...38,755,316

G

inositol polyphosphate-5-phosphatase A

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:40,419,115...40,566,643
Ensembl chr28:40,405,882...40,566,643

G

inhibitory synaptic factor 2A

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:36,102,179...36,159,980
Ensembl chr28:36,104,110...36,160,183

G

Janus kinase and microtubule interacting protein 3

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:40,101,607...40,152,821
Ensembl chr28:40,101,267...40,157,243

G

kinase non-catalytic C-lobe domain containing 1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:40,757,950...40,790,603

G

leucine rich repeat containing 27

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:40,279,215...40,312,923
Ensembl chr28:40,279,252...40,312,919

G

O-6-methylguanine-DNA methyltransferase

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380

G

marker of proliferation Ki-67

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486

G

mitochondrial ribosome associated GTPase 1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

G

NK6 homeobox 2

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:40,568,948...40,570,240
Ensembl chr28:40,569,093...40,570,793

G

neuropeptide S

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:36,488,430...36,492,524
Ensembl chr28:36,488,500...36,492,090

G

polyamine oxidase

ClinVar Annotator: match by term: Distal 10q deletion syndrome

G

protein phosphatase 2 regulatory subunit Bdelta

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:40,008,764...40,030,811
Ensembl chr28:39,987,019...40,030,382

G

proline rich acidic protein 1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:40,927,744...40,931,355

G

protein tyrosine phosphatase receptor type E

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:36,761,314...36,904,902
Ensembl chr28:36,746,822...36,902,325

G

PWWP domain containing 2B

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:40,327,255...40,330,711

G

shadow of prion protein

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:41,028,077...41,028,533
Ensembl chr28:41,028,090...41,028,533

G

serine/threonine kinase 32C

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:40,187,167...40,250,861
Ensembl chr28:40,187,590...40,243,857

G

synaptonemal complex central element protein 1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:41,149,228...41,157,422
Ensembl chr28:41,149,229...41,157,371

G

transcription elongation regulator 1 like

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:39,421,134...39,599,692
Ensembl chr28:39,421,832...39,599,692

G

tubulin gamma complex component 2

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:40,865,742...40,881,105
Ensembl chr28:40,865,748...40,881,119

G

undifferentiated embryonic cell transcription factor 1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

G

VENT homeobox

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:40,836,688...40,840,145
Ensembl chr28:40,836,403...40,840,127

G

zinc finger protein 511

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr28:40,881,819...40,885,953
Ensembl chr28:40,881,766...40,886,090

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 chr 9:15,708,070...15,781,100
Ensembl chr 9:15,420,835...15,783,045

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 chr10:49,446,165...49,498,690
Ensembl chr10:49,485,746...49,498,475

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 chr19:29,128,401...29,383,324
Ensembl chr19:29,130,227...29,383,658

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 chr 2:21,631,458...21,639,510

G

aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,661,333...30,691,283
Ensembl chr 2:30,674,558...30,690,043

G

aldo-keto reductase family 1 member E2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,694,119...30,706,693
Ensembl chr 2:30,694,249...30,706,637

G

ankyrin repeat domain 16

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,095,941...30,105,739
Ensembl chr 2:30,095,548...30,105,212

G

ADP ribosylation factor like GTPase 5B

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:18,441,251...18,476,989
Ensembl chr 2:18,445,860...18,471,066

G

ankyrin repeat and SOCS box containing 13

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,244,619...30,314,314
Ensembl chr 2:30,293,451...30,311,817

G

ATP synthase F1 subunit gamma

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:28,306,857...28,325,149
Ensembl chr 2:28,306,857...28,325,116

G

BEN domain containing 7

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:22,975,673...23,057,029
Ensembl chr 2:22,977,139...23,054,867

G

complement C1q like 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:20,300,916...20,308,393
Ensembl chr 2:20,301,008...20,307,603

G

calcium voltage-gated channel auxiliary subunit beta 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:18,537,100...18,787,728
Ensembl chr 2:18,538,620...18,902,286

G

calmodulin like 5

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,431,088...30,431,950
Ensembl chr 2:30,429,338...30,431,948

G

calcium/calmodulin dependent protein kinase ID

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:23,680,395...24,113,922
Ensembl chr 2:23,685,672...24,114,084

G

coiled-coil domain containing 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:23,477,696...23,593,107
Ensembl chr 2:23,477,696...23,591,036

G

cell division cycle 123

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:24,184,780...24,239,495
Ensembl chr 2:24,184,807...24,240,081

G

cerebral dopamine neurotrophic factor

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:21,795,701...21,814,359
Ensembl chr 2:21,795,821...21,814,320

G

CUGBP Elav-like family member 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:25,003,810...25,818,264
Ensembl chr 2:25,004,580...25,520,136

G

cubilin

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:19,784,125...20,041,840
Ensembl chr 2:19,784,198...20,041,839

G

DNA cross-link repair 1C

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:21,688,822...21,725,021
Ensembl chr 2:21,688,766...21,724,248

G

dehydrogenase E1 and transketolase domain containing 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:24,298,323...24,349,848
Ensembl chr 2:24,299,789...24,349,899

G

enoyl-CoA hydratase domain containing 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:24,600,563...24,619,948
Ensembl chr 2:24,599,709...24,619,958

G

family with sequence similarity 107 member B

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:22,015,294...22,085,890
Ensembl chr 2:21,859,935...22,083,555

G

family with sequence similarity 171 member A1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:21,445,602...21,505,564
Ensembl chr 2:21,445,726...21,504,249

G

F-box DNA helicase 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,047,994...30,095,761
Ensembl chr 2:30,048,567...30,095,696

G

FERM domain containing 4A

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:22,128,030...22,857,707
Ensembl chr 2:22,248,890...22,857,220

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 chr 2:28,068,143...28,098,445
Ensembl chr 2:28,069,051...28,087,760

G

GDP dissociation inhibitor 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,150,769...30,168,957
Ensembl chr 2:30,150,769...30,169,110

G

3-hydroxyacyl-CoA dehydratase 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:19,362,488...19,383,090
Ensembl chr 2:19,362,403...19,383,090

G

interleukin 15 receptor subunit alpha

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:29,981,385...30,034,364
Ensembl chr 2:29,981,234...30,038,945

G

interleukin 2 receptor subunit alpha

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:29,892,130...29,948,926
Ensembl chr 2:29,894,125...29,944,643

G

integrin subunit alpha 8

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:21,034,630...21,244,304
Ensembl chr 2:21,075,653...21,241,951

G

inter-alpha-trypsin inhibitor heavy chain 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:28,367,842...28,403,610
Ensembl chr 2:28,367,908...28,403,667

G

inter-alpha-trypsin inhibitor heavy chain 5

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:28,437,907...28,507,008
Ensembl chr 2:28,441,056...28,506,966

G

Kin17 DNA and RNA binding protein

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:28,325,243...28,360,790
Ensembl chr 2:28,324,723...28,360,773

G

calmodulin-like protein 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,410,830...30,411,981

G

phytanoyl-CoA hydroxylase-like

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:23,185,901...23,206,719
Ensembl chr 2:23,185,782...23,253,497

G

minichromosome maintenance 10 replication initiation factor

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:23,288,249...23,344,060
Ensembl chr 2:23,292,253...23,344,719

G

meiosis/spermiogenesis associated 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:21,675,003...21,684,020
Ensembl chr 2:21,675,012...21,679,456

G

MINDY lysine 48 deubiquitinase 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:20,948,946...21,014,938
Ensembl chr 2:20,865,946...21,014,429

G

neuroepithelial cell transforming 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,450,946...30,463,280
Ensembl chr 2:30,450,965...30,492,074

G

N-myristoyltransferase 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:21,569,692...21,609,585
Ensembl chr 2:21,556,246...21,609,325

G

NOP2/Sun RNA methyltransferase 6

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:18,477,150...18,534,716
Ensembl chr 2:18,477,211...18,534,710

G

nudix hydrolase 5

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:24,239,632...24,266,763
Ensembl chr 2:24,239,627...24,264,469

G

optineurin

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:23,356,471...23,390,569
Ensembl chr 2:23,357,237...23,392,511

G

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:29,716,866...29,785,643
Ensembl chr 2:29,716,752...29,801,936

G

protein kinase C theta

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:29,319,123...29,505,338
Ensembl chr 2:29,318,870...29,505,337

G

proline and serine rich 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:24,510,659...24,550,712
Ensembl chr 2:24,512,531...24,550,709

G

pre-mRNA processing factor 18

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:22,868,184...22,922,647

G

phosphotriesterase related

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:20,237,673...20,377,290
Ensembl chr 2:20,280,990...20,342,390

G

RNA binding motif protein 17

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:29,828,720...29,853,922
Ensembl chr 2:29,829,210...29,853,841

G

ribonuclease P/MRP subunit p38

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:21,612,114...21,617,371
Ensembl chr 2:21,612,200...21,614,485

G

Ras suppressor protein 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:20,050,029...20,299,179
Ensembl chr 2:20,050,117...20,299,184

G

SEC61 translocon subunit alpha 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:24,267,260...24,292,466
Ensembl chr 2:24,267,271...24,349,736

G

selenophosphate synthetase 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:23,147,303...23,178,808
Ensembl chr 2:23,146,353...23,177,174

G

Scm like with four mbt domains 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:28,637,365...28,856,505
Ensembl chr 2:28,661,058...28,853,364

G

solute carrier family 39 member 12

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:18,991,734...19,064,899
Ensembl chr 2:18,992,031...19,063,647

G

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:19,392,690...19,618,127
Ensembl chr 2:19,482,468...19,616,339

G

signal transducing adaptor molecule

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:19,264,392...19,344,187
Ensembl chr 2:19,266,055...19,344,045

G

SUV39H2 histone lysine methyltransferase

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:21,715,677...21,749,732
Ensembl chr 2:21,728,964...21,749,597

G

TATA-box binding protein associated factor 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:28,121,719...28,298,961
Ensembl chr 2:28,122,649...28,298,946

G

transcription activation suppressor family member 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,170,539...30,244,738
Ensembl chr 2:30,170,994...30,244,726

G

tRNA aspartic acid methyltransferase 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:19,702,561...19,763,744
Ensembl chr 2:19,677,444...19,763,741

G

tubulin alpha like 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,523,678...30,531,909
Ensembl chr 2:30,523,652...30,532,263

G

upper zone of growth plate and cartilage matrix associated

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:23,287,410...23,307,116
Ensembl chr 2:23,287,551...23,298,035

G

urocortin 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,541,316...30,547,839
Ensembl chr 2:30,541,779...30,542,282

G

UPF2 regulator of nonsense mediated mRNA decay

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:24,370,961...24,473,437
Ensembl chr 2:24,371,058...24,472,140

G

USP6 N-terminal like

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:24,724,454...24,894,052
Ensembl chr 2:24,743,120...24,891,668

G

vimentin

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466

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 chr10:46,792,795...47,185,951
Ensembl chr10:46,792,936...47,185,416

G

protein phosphatase, Mg2+/Mn2+ dependent 1B

CTD Direct Evidence: marker/mechanism

NCBI chr10:46,590,110...46,680,792
Ensembl chr10:46,590,079...46,665,866

G

prolyl endopeptidase like

CTD Direct Evidence: marker/mechanism

NCBI chr10:46,733,769...46,792,465
Ensembl chr10:46,726,676...46,792,405

G

solute carrier family 3 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:46,690,555...46,737,417
Ensembl chr10:46,685,137...46,737,147

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 5:974,673...992,143
Ensembl chr 5:976,008...992,330

G

acrosomal vesicle protein 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:8,844,035...8,850,557
Ensembl chr 5:8,846,834...8,850,567

G

ADAM metallopeptidase with thrombospondin type 1 motif 15

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:4,457,879...4,480,210
Ensembl chr 5:4,457,959...4,479,875

G

ADAM metallopeptidase with thrombospondin type 1 motif 8

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:4,479,874...4,517,211
Ensembl chr 5:4,496,791...4,516,594

G

amyloid beta precursor like protein 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:4,704,155...4,786,011
Ensembl chr 5:4,705,491...4,786,079

G

Rho GTPase activating protein 32

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:5,398,833...5,690,041
Ensembl chr 5:5,380,831...5,686,840

G

beta-1,3-glucuronyltransferase 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:741,231...747,641
Ensembl chr 5:745,747...748,899

G

BARX homeobox 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:5,238,795...5,311,027
Ensembl chr 5:5,239,517...5,310,648

G

coiled-coil domain containing 15

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:9,425,436...9,505,370
Ensembl chr 5:9,425,997...9,504,919

G

cell adhesion associated, oncogene regulated

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:8,439,606...8,536,088
Ensembl chr 5:8,446,346...8,533,426

G

checkpoint kinase 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:8,878,511...8,910,626
Ensembl chr 5:8,879,147...8,907,669

G

decapping enzyme, scavenger

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:8,168,887...8,212,582
Ensembl chr 5:8,172,313...8,212,832

G

DEAD-box helicase 25

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:8,566,748...8,585,965
Ensembl chr 5:8,566,754...8,586,020

G

EI24 autophagy associated transmembrane protein

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:8,949,886...8,963,967
Ensembl chr 5:8,950,883...8,963,967

G

endothelial cell adhesion molecule

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:9,658,920...9,667,134
Ensembl chr 5:9,658,937...9,667,141

G

ETS proto-oncogene 1, transcription factor

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:6,059,023...6,189,516
Ensembl chr 5:6,058,935...6,186,232

G

family with sequence similarity 118 member B

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:8,253,655...8,300,341
Ensembl chr 5:8,253,655...8,290,731

G

fasciculation and elongation protein zeta 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:9,001,927...9,044,330
Ensembl chr 5:9,001,989...9,044,332

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 5:5,841,533...5,968,329
Ensembl chr 5:5,843,023...5,966,822

G

FAD dependent oxidoreductase domain containing 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:8,239,740...8,247,341
Ensembl chr 5:8,240,132...8,247,314

G

galactosidase beta 1 like 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:805,531...846,125
Ensembl chr 5:805,653...846,126

G

hepatic and glial cell adhesion molecule

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:9,520,998...9,535,019
Ensembl chr 5:9,521,740...9,534,958

G

HYLS1 centriolar and ciliogenesis associated

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:8,589,606...8,605,196
Ensembl chr 5:8,589,369...8,605,317

G

immunoglobulin superfamily member 9B

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:1,273,897...1,330,449
Ensembl chr 5:1,273,444...1,320,283

G

junctional adhesion molecule 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:1,082,619...1,165,188
Ensembl chr 5:1,084,560...1,165,121

G

potassium inwardly rectifying channel subfamily J member 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:5,783,242...5,813,961
Ensembl chr 5:5,809,118...5,812,794

G

potassium inwardly rectifying channel subfamily J member 5

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:5,736,544...5,760,705
Ensembl chr 5:5,740,176...5,760,866

G

kirre like nephrin family adhesion molecule 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:7,583,530...8,124,045
Ensembl chr 5:7,583,805...8,123,080

G

beta-galactosidase-1-like protein 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:752,134...791,824
Ensembl chr 5:752,779...791,793

G

Myb/SANT DNA binding domain containing 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:9,623,023...9,654,860
Ensembl chr 5:9,622,842...9,654,641

G

non-SMC condensin II complex subunit D3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:1,021,588...1,081,846
Ensembl chr 5:1,020,690...1,081,446

G

nuclear factor related to kappaB binding protein

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:4,944,278...4,982,377
Ensembl chr 5:4,946,893...4,980,996

G

neurogranin

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:9,673,107...9,679,819
Ensembl chr 5:9,673,809...9,679,799

G

neurotrimin

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:2,725,902...3,658,635
Ensembl chr 5:2,725,943...3,658,311

G

opioid binding protein/cell adhesion molecule like

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:2,175,002...2,725,878
Ensembl chr 5:2,175,075...2,655,602

G

olfactory receptor family 8 subfamily A member 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:9,826,884...9,827,816
Ensembl chr 5:9,826,884...9,827,813

G

olfactory receptor family 8 subfamily B member 12

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:9,842,073...9,843,005
Ensembl chr 5:9,842,076...9,843,005

G

olfactory receptor family 8 subfamily B member 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:9,992,796...9,993,878
Ensembl chr 5:9,992,874...9,993,818

G

olfactory receptor family 8 subfamily B member 4

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:9,950,666...9,951,595

G

olfactory receptor family 8 subfamily B member 8

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:9,934,347...9,935,294

G

pannexin 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:9,787,513...9,794,292
Ensembl chr 5:9,787,947...9,794,166

G

prostate and testis expressed 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:8,677,688...8,697,018
Ensembl chr 5:8,691,821...8,693,049

G

prostate and testis expressed 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:8,663,643...8,665,261
Ensembl chr 5:8,663,718...8,664,972

G

prostate and testis expressed 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:8,638,789...8,651,797
Ensembl chr 5:8,638,749...8,640,265

G

PBX/knotted 1 homeobox 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:9,054,138...9,363,750
Ensembl chr 5:9,056,134...9,178,159

G

PR/SET domain 10

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:4,845,250...4,941,891
Ensembl chr 5:4,879,192...4,939,649

G

pseudouridine synthase 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:8,586,374...8,597,108
Ensembl chr 5:8,586,324...8,596,881

G

roundabout guidance receptor 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:9,563,353...9,579,111
Ensembl chr 5:9,563,345...9,579,289

G

roundabout guidance receptor 4

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:9,546,830...9,561,342
Ensembl chr 5:9,547,047...9,561,702

G

RNA pseudouridine synthase D4

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:8,300,421...8,311,193
Ensembl chr 5:8,299,771...8,311,210

G

sialic acid acetylesterase

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:9,719,444...9,770,574
Ensembl chr 5:9,731,394...9,769,227

G

solute carrier family 37 member 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:9,384,368...9,407,631
Ensembl chr 5:9,384,394...9,406,783

G

sorting nexin 19

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:4,044,597...4,085,438
Ensembl chr 5:4,045,097...4,084,363

G

sperm autoantigenic protein 17

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:9,719,222...9,731,521
Ensembl chr 5:9,719,241...9,730,913

G

spermatogenesis associated 19

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:1,357,720...1,362,312
Ensembl chr 5:1,357,750...1,362,270

G

SRP receptor subunit alpha

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:8,247,608...8,253,411
Ensembl chr 5:8,224,416...8,254,792

G

ST14 transmembrane serine protease matriptase

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:4,652,493...4,666,728
Ensembl chr 5:4,651,863...4,691,069

G

ST3 beta-galactoside alpha-2,3-sialyltransferase 4

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:8,132,663...8,160,008
Ensembl chr 5:8,133,085...8,141,254

G

STT3 oligosaccharyltransferase complex catalytic subunit A

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:8,916,428...8,942,097
Ensembl chr 5:8,910,940...8,942,146

G

transforming growth factor beta regulator 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:9,771,130...9,784,125
Ensembl chr 5:9,773,214...9,783,945

G

thymocyte nuclear protein 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:992,126...999,609
Ensembl chr 5:993,705...999,597

G

TIR domain containing adaptor protein

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:8,222,217...8,237,595
Ensembl chr 5:8,221,794...8,226,074

G

transmembrane protein 218

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:9,363,910...9,377,471
Ensembl chr 5:9,371,556...9,377,112

G

transmembrane protein 45B

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:4,985,019...5,032,358
Ensembl chr 5:4,985,200...5,032,365

G

VPS26, retromer complex component B

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:1,000,035...1,020,195
Ensembl chr 5:999,392...1,020,196

G

V-set and immunoglobulin domain containing 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:9,667,280...9,673,008
Ensembl chr 5:9,668,335...9,672,952

G

zinc finger and BTB domain containing 44

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr 5:4,574,604...4,641,431
Ensembl chr 5:4,574,243...4,635,066

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...

NCBI chr 9:48,610,906...48,630,932
Ensembl chr 9:48,613,996...48,629,857

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 chr27:25,199,580...25,352,637
Ensembl chr27:25,200,418...25,388,477

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 9:49,839,252...49,867,295
Ensembl chr 9:49,839,252...49,867,295

G

ADAMTS like 2

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:49,925,738...49,958,870
Ensembl chr 9:49,925,755...49,958,300

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...

NCBI chr 9:48,864,300...48,877,627
Ensembl chr 9:48,864,376...48,877,620

G

apical junction component 1 homolog

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:48,738,344...48,744,604

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...

NCBI chr 9:48,475,777...48,486,715
Ensembl chr 9:48,471,584...48,609,303

G

arrestin domain containing 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

NCBI chr 9:48,178,423...48,187,051
Ensembl chr 9:48,179,098...48,187,022

G

bromodomain containing 3

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:50,290,488...50,322,243
Ensembl chr 9:50,288,240...50,322,127

G

complement C8 gamma chain

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:48,672,332...48,674,190
Ensembl chr 9:48,672,333...48,673,854

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 9:49,868,218...49,878,254

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...

NCBI chr 9:47,813,625...48,009,532
Ensembl chr 9:47,816,393...48,009,406

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...

NCBI chr 9:49,458,701...49,523,056
Ensembl chr 9:49,458,694...49,521,332

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...

NCBI chr 9:49,110,913...49,120,758
Ensembl chr 9:49,113,923...49,120,591

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...

NCBI chr 9:48,768,012...48,775,191

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...

NCBI chr 9:48,426,916...48,432,245
Ensembl chr 9:48,428,759...48,432,243

G

chloride intracellular channel 3

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:48,634,061...48,637,083
Ensembl chr 9:48,634,878...48,637,015

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 9:50,706,852...50,856,691
Ensembl chr 9:50,770,277...50,854,728

G

cysteine rich tail 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

NCBI chr 9:48,447,774...48,449,765

G

dopamine beta-hydroxylase

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:50,004,806...50,024,130
Ensembl chr 9:50,004,806...50,024,130

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...

NCBI chr 9:48,836,323...48,844,827
Ensembl chr 9:48,837,035...48,845,482

G

DNL-type zinc finger

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:49,120,802...49,122,789
Ensembl chr 9:49,120,818...49,122,804

G

diphthamide biosynthesis 7

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

NCBI chr 9:48,210,254...48,220,186
Ensembl chr 9:48,207,392...48,220,047

G

dipeptidyl peptidase 7

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:48,554,062...48,557,752
Ensembl chr 9:48,554,077...48,557,746

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...

NCBI chr 9:48,722,918...48,726,358
Ensembl chr 9:48,722,658...48,731,723

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...

NCBI chr 9:48,878,075...48,890,002
Ensembl chr 9:48,878,075...48,895,541

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...

NCBI chr 9:48,031,593...48,110,954
Ensembl chr 9:48,032,709...48,175,828

G

ectonucleoside triphosphate diphosphohydrolase 2

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:48,589,408...48,594,852
Ensembl chr 9:48,570,891...48,594,452

G

ectonucleoside triphosphate diphosphohydrolase 8

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

NCBI chr 9:48,301,499...48,306,210
Ensembl chr 9:48,303,206...48,305,992

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...

NCBI chr 9:49,083,368...49,089,608
Ensembl chr 9:49,083,499...49,089,023

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...

NCBI chr 9:48,311,700...48,393,469
Ensembl chr 9:48,344,938...48,390,113

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 9:49,960,093...49,988,263
Ensembl chr 9:49,961,706...49,962,807

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...

NCBI chr 9:48,674,299...48,678,846
Ensembl chr 9:48,673,456...48,679,128

G

ficolin 2

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:50,868,942...50,876,001
Ensembl chr 9:50,868,973...50,875,792

G

fucosyltransferase 7

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:48,604,879...48,609,292
Ensembl chr 9:48,606,435...48,609,303

G

glycosyltransferase 6 domain containing 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:49,638,849...49,649,980
Ensembl chr 9:49,639,072...49,649,399

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...

NCBI chr 9:49,124,828...49,152,079
Ensembl chr 9:49,118,627...49,152,208

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...

NCBI chr 9:48,492,967...48,513,981
Ensembl chr 9:48,493,287...48,509,050

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...

NCBI chr 9:49,061,014...49,071,474
Ensembl chr 9:49,061,968...49,070,191

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...

NCBI chr 9:49,532,073...49,581,332
Ensembl chr 9:49,532,922...49,593,633

G

lysine methyltransferase 2C

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:25741868 PMID:39013459

NCBI chr16:15,962,045...16,117,601
Ensembl chr16:15,963,901...16,158,408

G

lipocalin 10

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:48,806,874...48,810,266

G

lipocalin 12

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:48,663,181...48,669,264
Ensembl chr 9:48,665,943...48,668,859

G

lipocalin 15

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:48,784,995...48,789,272
Ensembl chr 9:48,769,526...48,794,188

G

lipocalin 6

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:48,800,699...48,805,946

G

lipocalin 8

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:48,789,948...48,796,002
Ensembl chr 9:48,769,526...48,794,188

G

lipocalin 9

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:49,632,813...49,636,854
Ensembl chr 9:49,632,799...49,637,517

G

lipocalin like 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:48,643,845...48,647,187

G

LIM homeobox 3

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:49,248,555...49,254,128
Ensembl chr 9:49,248,621...49,254,118

G

U6atac minor spliceosomal RNA

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

G

endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:48,533,962...48,545,514
Ensembl chr 9:48,533,962...48,545,344

G

beta-lactoglobulin-1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:25741868 PMID:28492532 PMID:31209758

NCBI chr 9:49,663,646...49,667,034

G

UDP-N-acetylhexosamine pyrophosphorylase-like protein 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:48,528,738...48,532,888

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...

NCBI chr 9:48,490,172...48,492,141
Ensembl chr 9:48,490,995...48,492,031

G

MAM domain containing 4

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:48,726,392...48,736,173
Ensembl chr 9:48,727,523...48,734,820

G

microRNA mir-126

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:48,879,438...48,879,496
Ensembl chr 9:48,879,432...48,879,504

G

mitochondrial ribosomal protein L41

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

NCBI chr 9:48,220,805...48,221,656
Ensembl chr 9:48,221,159...48,221,566

G

mitochondrial ribosomal protein S2

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:51,211,701...51,214,465
Ensembl chr 9:51,211,627...51,214,475

G

myomaker, myoblast fusion factor

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:49,905,580...49,919,849
Ensembl chr 9:49,907,228...49,921,007

G

NACC family member 2

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More...

NCBI chr 9:49,323,613...49,393,017
Ensembl chr 9:49,363,280...49,389,508

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...

NCBI chr 9:48,456,256...48,464,930
Ensembl chr 9:48,455,260...48,464,970

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...

NCBI chr 9:48,411,725...48,425,044
Ensembl chr 9:48,408,005...48,423,308

G

notch receptor 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277

G

NADPH oxidase activator 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

NCBI chr 9:48,306,652...48,316,196
Ensembl chr 9:48,313,723...48,316,201

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...

NCBI chr 9:48,596,398...48,601,327
Ensembl chr 9:48,596,398...48,611,437

G

nuclear receptor subfamily 1 group I member 3

ClinVar Annotator: match by term: Kleefstra syndrome 1

NCBI chr38:21,252,874...21,257,951
Ensembl chr38:21,253,089...21,258,827

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...

NCBI chr 9:48,394,568...48,396,849
Ensembl chr 9:48,394,754...48,395,098

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...

NCBI chr 9:48,287,019...48,295,540
Ensembl chr 9:48,287,014...48,294,780

G

odorant binding protein 2B

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:49,707,505...49,709,999
Ensembl chr 9:49,706,531...49,710,097

G

olfactomedin 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:50,972,035...50,996,770
Ensembl chr 9:50,979,146...50,996,602

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...

NCBI chr 9:48,637,735...48,639,289
Ensembl chr 9:48,637,731...48,639,239

G

phosphohistidine phosphatase 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:48,736,310...48,737,771
Ensembl chr 9:48,736,333...48,737,725

G

piercer of microtubule wall 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:51,207,491...51,209,955
Ensembl chr 9:51,207,493...51,210,257

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...

NCBI chr 9:49,073,124...49,083,302
Ensembl chr 9:49,073,108...49,224,961

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...

NCBI chr 9:48,221,754...48,286,352
Ensembl chr 9:48,221,514...48,286,352

G

protein phosphatase 1 regulatory subunit 26

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:51,196,524...51,204,311
Ensembl chr 9:51,199,252...51,202,800

G

prostaglandin D2 synthase

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:48,647,334...48,650,608
Ensembl chr 9:48,646,255...48,669,814

G

quiescin sulfhydryl oxidase 2

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:49,213,295...49,245,164
Ensembl chr 9:49,213,295...49,245,176

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...

NCBI chr 9:48,746,363...48,767,529
Ensembl chr 9:48,594,845...48,770,844

G

REX4 homolog, 3'-5' exonuclease

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:49,827,584...49,834,872
Ensembl chr 9:49,828,067...49,836,632

G

ring finger protein 208

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

NCBI chr 9:48,452,147...48,453,585
Ensembl chr 9:48,452,622...48,453,416

G

ring finger protein 224

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

NCBI chr 9:48,445,143...48,445,632
Ensembl chr 9:48,445,143...48,445,913

G

retinoid X receptor alpha

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:50,525,195...50,575,720
Ensembl chr 9:50,484,567...50,573,119

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...

NCBI chr 9:48,571,045...48,578,517
Ensembl chr 9:48,570,891...48,594,452

G

sarcosine dehydrogenase

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:50,030,397...50,093,556
Ensembl chr 9:50,030,707...50,091,553

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...

NCBI chr 9:49,027,190...49,060,858
Ensembl chr 9:49,031,669...49,060,848

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 9:49,878,325...49,885,549
Ensembl chr 9:49,878,634...49,885,696

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...

NCBI chr 9:48,437,893...48,444,103
Ensembl chr 9:48,438,007...48,440,736

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...

NCBI chr 9:49,090,615...49,110,763
Ensembl chr 9:49,091,636...49,110,767

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

NCBI chr 9:49,593,740...49,598,279
Ensembl chr 9:49,593,703...49,599,113

G

SS nuclear autoantigen 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

NCBI chr 9:48,474,132...48,475,731
Ensembl chr 9:48,474,139...48,475,691

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 9:49,807,272...49,827,611
Ensembl chr 9:49,807,250...49,827,567

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...

NCBI chr 9:48,424,901...48,426,814

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 9:49,786,562...49,790,004
Ensembl chr 9:49,786,085...49,790,148

G

surfeit 2

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:49,790,187...49,794,102
Ensembl chr 9:49,790,186...49,793,623

G

surfeit 4

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:49,793,971...49,806,226
Ensembl chr 9:49,795,890...49,799,319

G

transmembrane protein 141

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:48,777,694...48,779,518
Ensembl chr 9:48,777,958...48,779,448

G

transmembrane protein 203

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

NCBI chr 9:48,464,982...48,466,528
Ensembl chr 9:48,465,201...48,465,611

G

transmembrane protein 210

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

NCBI chr 9:48,488,897...48,490,044
Ensembl chr 9:48,471,584...48,609,303

G

transmembrane protein 250

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More...

NCBI chr 9:49,308,397...49,311,360
Ensembl chr 9:49,308,350...49,311,487

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...

NCBI chr 9:48,405,017...48,411,583

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...

NCBI chr 9:48,688,071...48,713,936
Ensembl chr 9:48,689,331...48,703,633

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...

NCBI chr 9:48,432,114...48,434,626
Ensembl chr 9:48,427,766...48,571,640

G

UBA domain containing 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More...

NCBI chr 9:49,423,924...49,444,589
Ensembl chr 9:49,423,408...49,444,585

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 9:50,103,004...50,232,753
Ensembl chr 9:50,094,447...50,230,954

G

WD repeat domain 5

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:50,352,600...50,371,224
Ensembl chr 9:50,352,472...50,371,236

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...

NCBI chr 9:48,195,375...48,204,137
Ensembl chr 9:48,195,350...48,204,135

Koolen de Vries syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207

G

chromosome 5 C11orf65 homolog

ClinVar Annotator: match by term: Koolen-de Vries syndrome

PMID:9043869 PMID:10817650 PMID:12815592 PMID:16238588 PMID:17124347 More...

NCBI chr 5:24,106,696...24,166,686
Ensembl chr 5:24,121,409...24,166,291

G

corticotropin releasing hormone receptor 1

ClinVar Annotator: match by term: Koolen-de Vries syndrome

PMID:18628315 PMID:21094706 PMID:28492532

NCBI chr 9:9,708,696...9,763,281
Ensembl chr 9:9,714,204...9,763,402

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...

Ensembl chr 9:9,381,737...9,565,976
Ensembl chr 9:9,381,737...9,565,976

G

leucine-rich repeat-containing protein 37A3-like

ClinVar Annotator: match by term: Koolen-de Vries syndrome

NCBI chr14:22,321,364...22,333,244

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 chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349

G

signal peptide peptidase like 2C

ClinVar Annotator: match by term: Koolen-de Vries syndrome

PMID:18628315 PMID:21094706 PMID:28492532

NCBI chr 9:9,703,119...9,705,300
Ensembl chr 9:9,703,230...9,705,212

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 chr 9:46,137,573...46,147,829
Ensembl chr 9:46,137,660...46,147,854

G

HIC ZBTB transcriptional repressor 1

OMIM:247200

NCBI chr 9:46,156,909...46,162,849
Ensembl chr 9:46,159,136...46,162,004

G

MAX network transcriptional repressor

OMIM:247200

NCBI chr 9:46,466,879...46,482,467
Ensembl chr 9:46,469,426...46,482,705

G

myosin IC

ClinVar Annotator: match by term: Miller Dieker syndrome

NCBI chr 9:45,635,295...45,658,226
Ensembl chr 9:45,636,208...45,658,035

G

platelet activating factor acetylhydrolase 1b regulatory subunit 1

OMIM:247200

NCBI chr 9:46,648,057...46,731,259
Ensembl chr 9:46,648,052...46,771,400

G

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

OMIM:247200

NCBI chr 9:45,506,830...45,562,081
Ensembl chr 9:45,507,282...45,562,086

Monosomy 7 Myelodysplasia and Leukemia Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sterile alpha motif domain containing 9 like

ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 1 | ClinVar Annotator: match by term: Monosomy 7 of bone marrow

PMID:2569483 PMID:25741868 PMID:27259050 PMID:28202457 PMID:28492532 More...

NCBI chr14:18,643,693...18,665,262
Ensembl chr14:18,643,998...18,648,755

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 5:48,489,521...49,064,867
Ensembl chr 5:48,496,773...49,064,848

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 chr10:16,607,514...16,615,399
Ensembl chr10:16,609,915...16,615,354

G

adrenomedullin 2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:16,818,026...16,822,463
Ensembl chr10:16,816,319...16,820,440

G

ALG12 alpha-1,6-mannosyltransferase

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:17,293,945...17,300,982
Ensembl chr10:17,293,552...17,300,974

G

Rho GTPase activating protein 8

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:21,084,626...21,132,640
Ensembl chr10:21,082,086...21,132,875

G

arylsulfatase A

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:16,691,927...16,694,346
Ensembl chr10:16,691,758...16,695,398

G

ataxin 10

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:20,277,339...20,440,749
Ensembl chr10:20,257,974...20,440,704

G

BCL2 interacting killer

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:22,417,374...22,433,055

G

bromodomain containing 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:17,361,043...17,396,725
Ensembl chr10:17,361,117...17,395,928

G

cysteine rich DPF motif domain containing 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:19,928,742...19,950,129
Ensembl chr10:19,929,142...19,932,650

G

cadherin EGF LAG seven-pass G-type receptor 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:19,704,104...19,836,886
Ensembl chr10:19,707,804...19,837,481

G

ceramide kinase

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:19,560,125...19,601,223
Ensembl chr10:19,556,087...19,598,954

G

choline kinase beta

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:16,733,071...16,736,797
Ensembl chr10:16,733,095...16,736,758

G

ciliary microtubule associated protein 1B

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:16,779,661...16,785,392
Ensembl chr10:16,783,169...16,786,341

G

collagen type IV alpha 5 chain

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr X:81,982,119...82,248,428
Ensembl chr X:81,982,275...82,247,679

G

carnitine palmitoyltransferase 1B

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:16,737,106...16,744,626
Ensembl chr10:16,737,289...16,744,624

G

cysteine rich with EGF like domains 2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:17,286,141...17,293,327
Ensembl chr10:17,286,134...17,293,740

G

DENN domain containing 6B

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:16,939,946...16,948,777
Ensembl chr10:16,939,093...16,948,689

G

EF-hand calcium binding domain 6

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:21,829,783...22,064,034
Ensembl chr10:21,831,430...22,064,030

G

family with sequence similarity 118 member A

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:20,713,549...20,737,569
Ensembl chr10:20,714,237...20,739,466

G

fibulin 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:20,498,097...20,564,776
Ensembl chr10:20,498,567...20,627,836

G

GRAM domain containing 4

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:19,608,037...19,643,294
Ensembl chr10:19,605,955...19,661,694

G

G2 and S-phase expressed 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:19,863,064...19,883,972
Ensembl chr10:19,863,255...19,883,506

G

histone deacetylase 10

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:16,996,307...17,001,365
Ensembl chr10:16,995,762...17,078,262

G

interleukin 17 receptor E like

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:17,238,418...17,242,686
Ensembl chr10:17,216,084...17,242,226

G

insulin

CTD Direct Evidence: therapeutic

NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122

G

KIAA0930

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:20,786,327...20,832,741
Ensembl chr10:20,786,114...20,832,726

G

kelch domain containing 7B

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:16,772,594...16,775,506

G

lipase maturation factor 2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:16,802,110...16,806,471
Ensembl chr10:16,801,342...16,806,020

G

mitogen-activated protein kinase 11

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:16,977,133...16,984,764

G

mitogen-activated protein kinase 12

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:16,986,828...16,994,937
Ensembl chr10:16,986,828...16,994,937

G

mitogen-activated protein kinase 8 interacting protein 2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:16,702,623...16,712,426
Ensembl chr10:16,702,621...16,712,278

G

malonyl-CoA-acyl carrier protein transacylase

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:22,404,726...22,414,211
Ensembl chr10:22,404,752...22,413,604

G

myo-inositol oxygenase

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:16,813,532...16,815,930
Ensembl chr10:16,813,545...16,818,015

G

microRNA mir-1249

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:20,818,801...20,818,939
Ensembl chr10:20,818,801...20,818,939

G

microRNA let-7a-1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:20,034,319...20,034,387
Ensembl chr10:20,034,319...20,034,387

G

modulator of VRAC current 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:17,139,912...17,164,666
Ensembl chr10:17,139,448...17,163,056

G

Mov10 like RNA helicase 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:17,067,273...17,139,910
Ensembl chr10:17,067,273...17,240,197

G

metallophosphoesterase domain containing 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:22,075,534...22,155,974
Ensembl chr10:22,077,813...22,155,867

G

non-SMC condensin II complex subunit H2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:16,790,137...16,801,851
Ensembl chr10:16,741,761...16,801,824

G

nucleoporin 50

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:20,828,879...20,846,539
Ensembl chr10:20,825,574...20,844,617

G

pannexin 2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:17,052,972...17,059,756
Ensembl chr10:17,052,956...17,055,880

G

parvin beta

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:21,549,654...21,629,771
Ensembl chr10:21,551,998...21,640,781

G

parvin gamma

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:21,525,486...21,545,001
Ensembl chr10:21,525,486...21,546,503

G

PHD finger protein 21B

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:21,042,151...21,068,180
Ensembl chr10:20,986,924...21,066,392

G

Pim-3 proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:17,260,590...17,262,175

G

polycystin family receptor for egg jelly

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:19,914,217...19,921,766
Ensembl chr10:19,914,721...19,920,822

G

plexin B2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:16,949,230...16,975,109
Ensembl chr10:16,963,396...16,974,705

G

patatin like phospholipase domain containing 3

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:21,708,439...21,722,282
Ensembl chr10:21,712,378...21,722,135

G

patatin like phospholipase domain containing 5

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:21,761,069...21,773,521
Ensembl chr10:21,760,563...21,773,531

G

peroxisome proliferator activated receptor alpha

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:19,934,020...20,006,096
Ensembl chr10:19,934,165...20,006,146

G

protein phosphatase 6 regulatory subunit 2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:16,846,250...16,929,855
Ensembl chr10:16,846,899...16,929,884

G

proline rich 5

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:21,164,530...21,188,537
Ensembl chr10:21,164,530...21,210,148

G

RAB, member of RAS oncogene family like 2B

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:16,555,009...16,571,207

G

RIB43A domain with coiled-coils 2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:20,625,423...20,640,266
Ensembl chr10:20,625,447...20,640,468

G

retrotransposon Gag like 6

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:21,316,145...21,317,422
Ensembl chr10:21,316,309...21,317,028

G

SAMM50 sorting and assembly machinery component

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:21,667,558...21,703,830
Ensembl chr10:21,655,814...21,703,817

G

SET binding factor 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:16,823,456...16,845,800
Ensembl chr10:16,828,599...16,845,789

G

synthesis of cytochrome C oxidase 2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:16,783,116...16,790,011
Ensembl chr10:16,788,287...16,790,247

G

signal peptide, CUB domain and EGF like domain containing 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:22,164,430...22,358,981
Ensembl chr10:22,222,208...22,353,729

G

selenoprotein O

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:17,025,023...17,032,922
Ensembl chr10:16,968,287...17,033,250

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 chr10:16,621,445...16,665,366

G

shisa like 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:21,371,681...21,503,400
Ensembl chr10:21,371,487...21,510,505

G

structural maintenance of chromosomes 1B

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:20,640,695...20,711,853
Ensembl chr10:20,640,187...20,711,822

G

sulfotransferase family 4A member 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:21,781,562...21,815,059
Ensembl chr10:21,781,487...21,814,006

G

synaptonemal complex central element protein 3

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:16,748,760...16,772,496
Ensembl chr10:16,758,528...16,772,344

G

TAFA chemokine like family member 5

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:18,093,455...18,186,776

G

TBC1 domain family member 22A

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:19,196,866...19,532,103
Ensembl chr10:19,070,467...19,532,062

G

transcription factor 20

OMIM:606232

NCBI chr10:23,195,037...23,250,681
Ensembl chr10:23,140,603...23,250,078

G

TraB domain containing

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:17,043,710...17,045,935
Ensembl chr10:17,043,767...17,046,068

G

tRNA mitochondrial 2-thiouridylase

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:19,841,813...19,859,514
Ensembl chr10:19,841,854...19,859,470

G

translocator protein

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:22,388,498...22,399,329
Ensembl chr10:22,274,405...22,399,297

G

tetratricopeptide repeat domain 38

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:19,887,285...19,910,347
Ensembl chr10:19,773,373...19,910,683

G

TTL family tubulin polyglutamylase complex subunit L1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:22,456,150...22,492,375
Ensembl chr10:22,456,146...22,488,505

G

tubulin tyrosine ligase like 12

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:22,367,590...22,385,167
Ensembl chr10:22,367,367...22,386,617

G

tubulin tyrosine ligase like 8

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:17,165,586...17,237,608
Ensembl chr10:17,164,294...17,213,924

G

tubulin gamma complex component 6

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:17,023,609...17,025,956
Ensembl chr10:17,006,770...17,025,105
Ensembl chr10:17,006,770...17,025,105

G

uroplakin 3A

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:20,747,139...20,755,131
Ensembl chr10:20,747,140...20,755,162

G

Wnt family member 7B

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:20,160,916...20,208,786
Ensembl chr10:20,160,206...20,243,160

G

zinc finger BED-type containing 4

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr10:17,313,750...17,343,609
Ensembl chr10:17,315,015...17,318,512

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 chr24:21,725,126...21,804,745
Ensembl chr24:21,661,059...21,802,815

G

lysine methyltransferase 2A

ClinVar Annotator: match by term: Rubinstein Taybi like syndrome

NCBI chr 5:15,212,559...15,302,825
Ensembl chr 5:15,217,348...15,270,971

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Rubinstein Taybi like syndrome

NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490

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 chr10:23,742,284...23,798,580
Ensembl chr10:23,742,333...23,798,498

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 6:37,213,251...37,334,820
Ensembl chr 6:37,213,227...37,331,563

G

adenylosuccinate lyase

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr10:24,813,854...24,832,115

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 6:36,369,246...36,380,963

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 6:36,678,916...36,711,096
Ensembl chr 6:36,669,590...36,710,807

G

apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3Z1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

G

apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3Z3

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr10:25,910,973...25,917,508
Ensembl chr10:25,911,291...25,913,808

G

activating transcription factor 4

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr10:25,528,880...25,531,018
Ensembl chr10:25,528,874...25,530,993

G

chromosome 6 C16orf89 homolog

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More...

NCBI chr 6:36,388,221...36,402,847
Ensembl chr 6:36,388,165...36,402,860

G

chromosome 6 C16orf90 homolog

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More...

NCBI chr 6:37,754,210...37,756,174
Ensembl chr 6:37,754,234...37,756,173

G

chromosome 6 C16orf96 homolog

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More...

NCBI chr 6:36,793,546...36,838,116
Ensembl chr 6:36,795,470...36,837,972

G

calcium voltage-gated channel subunit alpha1 I

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr10:25,381,446...25,493,680
Ensembl chr10:25,380,943...25,482,852

G

chromobox 7

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr10:25,876,022...25,896,284
Ensembl chr10:25,876,016...25,893,501

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 6:36,854,124...36,880,231
Ensembl chr 6:36,854,141...36,880,230

G

chondroadherin like

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr10:23,992,848...24,006,492
Ensembl chr10:23,953,912...24,003,162

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 6:37,708,258...37,746,361
Ensembl chr 6:37,708,089...37,746,398

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 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176

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 6:36,665,193...36,678,860
Ensembl chr 6:36,665,455...36,678,680

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 6:36,921,941...36,967,718
Ensembl chr 6:36,917,858...36,967,689

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 chr10:24,372,364...24,373,715
Ensembl chr10:24,372,507...24,373,436

G

deoxyribonuclease 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More...

NCBI chr 6:37,596,735...37,599,953
Ensembl chr 6:37,595,911...37,599,827

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 6:36,353,626...36,370,466

G

ENTH domain containing 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr10:25,226,464...25,331,715
Ensembl chr10:25,232,244...25,331,720

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 chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396

G

family with sequence similarity 83 member F

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr10:25,106,663...25,140,989
Ensembl chr10:25,108,003...25,140,989

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 6:37,048,380...37,069,740
Ensembl chr 6:37,048,367...37,088,880

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 6:36,582,438...36,618,265
Ensembl chr 6:36,582,461...36,616,206

G

GRB2 related adaptor protein 2

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr10:25,156,233...25,220,106
Ensembl chr10:25,157,841...25,220,222

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 6:36,881,073...36,898,062
Ensembl chr 6:36,881,506...36,898,042

G

L3MBTL histone methyl-lysine binding protein 2

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr10:24,000,008...24,021,883
Ensembl chr10:24,002,183...24,021,753

G

zinc finger protein 75A-like

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More...

NCBI chr 6:37,919,034...37,930,995

G

coronin-7

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More...

NCBI chr 6:36,980,302...37,038,210

G

small nucleolar RNA U83B

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

G

small nucleolar RNA U83B

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

G

small nucleolar RNA SNORD43

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

G

melanin concentrating hormone receptor 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

PMID:15706485 PMID:24476420 PMID:28492532

NCBI chr10:24,526,687...24,560,948
Ensembl chr10:24,526,693...24,559,836

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 6:37,964,776...37,984,830
Ensembl chr 6:37,970,608...37,983,737

G

beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr10:25,564,825...25,605,787
Ensembl chr10:25,568,053...25,570,413

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 6:36,716,071...36,775,893
Ensembl chr 6:36,716,343...36,769,417

G

mitochondrial elongation factor 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr10:25,534,231...25,548,565
Ensembl chr10:25,536,288...25,546,369

G

myocardin related transcription factor A

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr10:24,561,161...24,759,586
Ensembl chr10:24,561,161...24,759,081

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 6:37,759,233...37,784,224
Ensembl chr 6:37,761,497...37,793,290

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 6:36,415,664...36,425,542
Ensembl chr 6:36,415,700...36,425,176

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 6:37,668,654...37,707,387
Ensembl chr 6:37,647,976...37,703,190

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 6:36,918,303...36,927,581
Ensembl chr 6:36,916,787...36,927,578

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 6:36,711,351...36,713,931
Ensembl chr 6:36,711,671...36,713,896
Ensembl chr 6:36,711,671...36,713,896

G

olfactory receptor family 2 subfamily C member 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More...

NCBI chr 6:37,844,712...37,846,121
Ensembl chr 6:37,844,712...37,845,650

G

presequence translocase associated motor 16

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 6:37,040,484...37,047,708

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 chr24:17,461,406...17,475,248
Ensembl chr24:17,463,447...17,490,360

G

platelet derived growth factor subunit B

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746

G

PHD finger protein 5A

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr10:23,798,854...23,809,024
Ensembl chr10:23,798,969...23,808,865

G

periplakin

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More...

NCBI chr 6:36,498,562...36,542,101
Ensembl chr 6:36,491,561...36,624,532

G

Ran GTPase activating protein 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr10:23,953,877...23,985,622
Ensembl chr10:23,953,912...24,003,162

G

ring-box 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

PMID:15706485 PMID:24476420 PMID:28492532

NCBI chr10:24,265,733...24,280,253
Ensembl chr10:24,266,408...24,280,235

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 6:36,618,670...36,624,533
Ensembl chr 6:36,491,561...36,624,532

G

ribosomal protein L3

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr10:25,739,089...25,745,487
Ensembl chr10:25,739,089...25,762,501

G

ribosomal protein S19 binding protein 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr10:25,518,543...25,521,806
Ensembl chr10:25,518,629...25,521,736

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 6:36,438,098...36,479,887
Ensembl chr 6:36,442,145...36,479,935

G

septin 12

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More...

NCBI chr 6:36,630,038...36,641,920
Ensembl chr 6:36,630,117...36,641,924

G

small G protein signaling modulator 3

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr10:24,759,714...24,803,333
Ensembl chr10:24,760,162...24,769,478

G

solute carrier family 25 member 17

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

PMID:15706485 PMID:24476420 PMID:28492532

NCBI chr10:24,417,294...24,462,057
Ensembl chr10:24,417,155...24,461,964

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 6:37,648,297...37,666,584
Ensembl chr 6:37,647,976...37,703,190

G

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 6:36,624,080...36,625,631
Ensembl chr 6:36,624,992...36,625,505

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 6:37,113,398...37,163,133
Ensembl chr 6:37,124,499...37,160,955

G

ST13 Hsp70 interacting protein

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

PMID:15706485 PMID:24476420 PMID:28492532

NCBI chr10:24,379,997...24,411,764
Ensembl chr10:24,379,997...24,411,766

G

synaptogyrin 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr10:25,685,079...25,735,940
Ensembl chr10:25,687,633...25,713,300

G

TGF-beta activated kinase 1 (MAP3K7) binding protein 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr10:25,623,381...25,657,630
Ensembl chr10:25,623,940...25,657,543

G

TEF transcription factor, PAR bZIP family member

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr10:23,852,551...23,878,353
Ensembl chr10:23,838,788...23,878,190

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 6:37,075,462...37,111,039
Ensembl chr 6:37,097,786...37,111,072

G

tigger transposable element derived 7

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More...

NCBI chr 6:37,931,461...37,937,102
Ensembl chr 6:37,934,889...37,936,535

G

trinucleotide repeat containing adaptor 6B

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr10:24,852,168...25,094,400
Ensembl chr10:24,813,854...25,094,393

G

transducer of ERBB2, 2

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr10:23,817,778...23,830,330
Ensembl chr10:23,826,437...23,827,447

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 6:37,544,929...37,596,789
Ensembl chr 6:37,544,580...37,597,427

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 6:36,783,875...36,794,526
Ensembl chr 6:36,786,762...36,787,452

G

ubinuclein 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More...

NCBI chr 6:36,542,266...36,581,789
Ensembl chr 6:36,544,405...36,581,797

G

vasorin

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More...

NCBI chr 6:37,014,704...37,025,734
Ensembl chr 6:37,015,333...37,017,351

G

X-prolyl aminopeptidase 3

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

PMID:15706485 PMID:24476420 PMID:28492532

NCBI chr10:24,304,342...24,379,562
Ensembl chr10:24,307,091...24,379,448

G

zinc finger CCCH-type containing 7B

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr10:23,882,379...23,944,850
Ensembl chr10:23,884,981...23,920,131

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 6:37,819,278...37,828,985
Ensembl chr 6:37,821,961...37,828,238

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 6:37,941,884...37,949,366
Ensembl chr 6:37,934,786...37,948,607

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 6:36,646,310...36,663,266
Ensembl chr 6:36,654,503...36,663,280

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 6:37,793,406...37,798,568
Ensembl chr 6:37,793,585...37,798,541

G

zinc finger and SCAN domain containing 32

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More...

NCBI chr 6:37,833,530...37,839,370

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 chr37:6,360,072...6,397,959
Ensembl chr37:6,359,568...6,397,932

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 chr37:8,548,295...8,837,416
Ensembl chr37:8,551,017...8,731,149

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:35,939,117...36,296,438
Ensembl chr X:35,940,647...36,297,014

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 chr20:48,549,107...48,566,062
Ensembl chr20:48,549,591...48,565,828

G

glycine decarboxylase

ClinVar Annotator: match by term: Smith-Magenis Syndrome-like

PMID:25741868 PMID:27799067 PMID:28492532

NCBI chr11:27,491,639...27,584,450
Ensembl chr11:27,414,834...27,584,450

G

janus kinase and microtubule interacting protein 1

ClinVar Annotator: match by term: Smith-Magenis Syndrome-like

NCBI chr 3:71,202,903...71,344,541
Ensembl chr 3:71,204,244...71,344,881

G

lysine demethylase 5C

ClinVar Annotator: match by term: Smith-Magenis Syndrome-like

PMID:27799067 PMID:28492532

NCBI chr X:44,921,271...44,953,338
Ensembl chr X:44,921,816...44,952,616

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Smith-Magenis Syndrome-like

NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490

G

mitogen-activated protein kinase kinase 2

ClinVar Annotator: match by term: Smith-Magenis Syndrome-like

NCBI chr20:55,465,460...55,487,629
Ensembl chr20:55,465,212...55,487,641

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:121,866,721...121,876,088
Ensembl chr X:121,873,218...121,932,994

G

microRNA mir-33b

ClinVar Annotator: match by term: Smith-Magenis syndrome

NCBI chr 5:41,685,165...41,685,258
Ensembl chr 5:41,685,165...41,685,258

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 chr 5:41,687,436...41,797,354
Ensembl chr 5:41,688,479...41,808,918

G

spermine synthase

ClinVar Annotator: match by term: Smith-Magenis syndrome

NCBI chr X:17,749,020...17,803,351
Ensembl chr X:17,749,530...17,802,999

G

sterol regulatory element binding transcription factor 1

ClinVar Annotator: match by term: Smith-Magenis syndrome

NCBI chr 5:41,663,809...41,686,764
Ensembl chr 5:41,663,773...41,686,776

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 chr17:34,512,753...34,527,208
Ensembl chr17:34,512,792...34,523,692

G

target of myb1 like 2 membrane trafficking protein

ClinVar Annotator: match by term: Smith-Magenis syndrome

NCBI chr 5:41,535,069...41,654,609
Ensembl chr 5:41,535,005...41,650,717

G

zinc finger E-box binding homeobox 2

ClinVar Annotator: match by term: Smith-Magenis Syndrome-like

NCBI chr19:46,419,812...46,541,888
Ensembl chr19:46,423,998...46,542,122

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 chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784

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 chr17:58,213,016...58,230,934
Ensembl chr17:58,193,586...58,230,491

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 chr17:58,749,788...58,771,464
Ensembl chr17:58,750,678...58,752,234

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 chr17:58,665,626...58,682,761
Ensembl chr17:58,665,905...58,682,398

G

BCL9 transcription coactivator

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr17:58,105,914...58,189,065
Ensembl chr17:58,168,375...58,189,062

G

CD160 molecule

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr17:58,548,137...58,564,077
Ensembl chr17:58,555,851...58,563,341

G

chromodomain helicase DNA binding protein 1 like

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr17:57,725,823...57,806,065
Ensembl chr17:57,725,640...57,806,048

G

flavin containing dimethylaniline monoxygenase 5

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr17:57,665,879...57,698,540
Ensembl chr17:57,666,762...57,697,982

G

gap junction protein alpha 5

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr17:58,289,327...58,305,315
Ensembl chr17:58,289,327...58,305,315

G

gap junction protein alpha 8

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr17:58,360,313...58,428,751
Ensembl chr17:58,424,072...58,425,391

G

G protein-coupled receptor 89A

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr17:58,436,920...58,498,082

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 chr17:58,792,647...58,797,504
Ensembl chr17:58,793,247...58,797,373

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 chr17:58,696,356...58,712,174
Ensembl chr17:58,697,392...58,711,794

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 chr17:58,729,143...58,747,869
Ensembl chr17:58,731,685...58,747,856

G

U1 spliceosomal RNA

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

G

U1 spliceosomal RNA

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

G

peptidyl-prolyl cis-trans isomerase A-like

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr19:42,982,979...42,983,440

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 chr17:58,648,234...58,653,222
Ensembl chr17:58,648,272...58,650,757

G

PDZ domain containing 1

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr17:58,496,977...58,536,772

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 chr17:58,713,304...58,718,795
Ensembl chr17:58,712,902...58,718,647

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 chr17:58,650,791...58,660,755
Ensembl chr17:58,571,694...58,660,663

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 chr17:58,634,299...58,646,056
Ensembl chr17:58,636,244...58,645,838

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 chr17:58,751,942...58,764,946
Ensembl chr17:58,751,604...58,764,881

G

protein kinase AMP-activated non-catalytic subunit beta 2

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr17:57,614,499...57,630,041
Ensembl chr17:57,616,451...57,630,041

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 chr17:58,722,449...58,726,017
Ensembl chr17:58,724,227...58,725,969

G

ring finger protein 115

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr17:58,566,761...58,634,967
Ensembl chr17:58,571,694...58,660,663

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 chr17:58,775,588...58,779,730
Ensembl chr17:58,776,871...58,779,531

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 chr26:30,520,542...30,533,256
Ensembl chr26:30,519,872...30,532,796

G

ARVCF delta catenin family member

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:29,304,710...29,359,110
Ensembl chr26:29,307,351...29,359,245

G

chromosome 26 C22orf39 homolog

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:29,765,870...29,770,079
Ensembl chr26:29,765,936...29,769,471

G

coiled-coil domain containing 188

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:29,189,736...29,194,606
Ensembl chr26:29,189,880...29,192,286

G

cell division cycle 45

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:29,707,523...29,738,599
Ensembl chr26:29,707,564...29,739,252

G

chordin

OMIM:192430

NCBI chr34:17,255,770...17,264,776
Ensembl chr34:17,255,562...17,271,713

G

claudin 5

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:29,702,464...29,704,950
Ensembl chr26:29,703,683...29,704,339

G

clathrin heavy chain like 1

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:29,907,235...30,002,136
Ensembl chr26:29,906,278...30,002,128

G

catechol-O-methyltransferase

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008

G

CRK like proto-oncogene, adaptor protein

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:30,542,276...30,582,479
Ensembl chr26:30,545,311...30,581,964

G

DiGeorge syndrome critical region gene 2

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:30,051,598...30,143,192
Ensembl chr26:30,054,116...30,141,533

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 chr26:29,032,221...29,038,556

G

DGCR8 microprocessor complex subunit

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

G

endothelin receptor type A

OMIM:192430

NCBI chr15:45,823,472...45,878,527
Ensembl chr15:45,823,560...45,876,463

G

ess-2 splicing factor homolog

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:30,037,954...30,048,487
Ensembl chr26:30,038,015...30,049,204

G

G protein subunit beta 1 like

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:29,454,954...29,511,019
Ensembl chr26:29,454,054...29,510,792

G

glycoprotein Ib platelet subunit beta

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:29,567,437...29,568,627
Ensembl chr26:29,528,366...29,568,522

G

goosecoid homeobox 2

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:30,033,185...30,034,174

G

histone cell cycle regulator

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:29,777,984...29,867,992
Ensembl chr26:29,778,086...29,867,559

G

kelch like family member 22

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:30,248,253...30,281,989
Ensembl chr26:30,248,240...30,281,843

G

small nucleolar RNA SNORA77

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

G

proline dehydrogenase 1, mitochondrial

ClinVar Annotator: match by term: 22q11.2 deletion syndrome

NCBI chr26:29,039,007...29,059,722

G

leucine rich repeat containing 74B

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:30,440,821...30,456,219
Ensembl chr26:30,441,439...30,456,178

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 chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611

G

mitogen-activated protein kinase 1

OMIM:192430

NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998

G

mediator complex subunit 15

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:30,299,424...30,368,460
Ensembl chr26:30,299,442...30,367,572

G

microRNA mir-1306

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:29,255,671...29,255,728
Ensembl chr26:29,255,656...29,255,735

G

microRNA mir-185

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:29,296,014...29,296,069
Ensembl chr26:29,296,004...29,296,079

G

mitochondrial ribosomal protein L40

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:29,773,397...29,777,104
Ensembl chr26:29,773,403...29,777,073

G

purinergic receptor P2X 6

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:30,456,231...30,467,674
Ensembl chr26:30,457,014...30,466,152

G

phosphatidylinositol 4-kinase alpha

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:30,630,693...30,749,158
Ensembl chr26:30,630,261...30,749,126

G

prickle planar cell polarity protein 1

OMIM:192430

NCBI chr27:11,327,086...11,437,799
Ensembl chr27:11,426,647...11,437,303

G

RAN binding protein 1

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:29,211,559...29,219,247
Ensembl chr26:29,211,863...29,220,451

G

reticulon 4 receptor

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:29,109,991...29,117,319
Ensembl chr26:29,113,428...29,115,918

G

scavenger receptor class F member 2

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:30,231,967...30,243,693
Ensembl chr26:30,233,669...30,239,151

G

septin 5

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:29,568,776...29,573,837
Ensembl chr26:29,569,586...29,573,842

G

serpin family D member 1

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:30,686,074...30,697,437
Ensembl chr26:30,686,663...30,693,848

G

solute carrier family 25 member 1

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:30,002,732...30,006,696
Ensembl chr26:30,002,861...30,005,444

G

solute carrier family 7 member 4

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:30,467,817...30,472,806
Ensembl chr26:30,468,789...30,471,458

G

synaptosome associated protein 29

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:30,606,195...30,630,441
Ensembl chr26:30,609,158...30,630,262

G

transport and golgi organization 2 homolog

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:29,265,489...29,303,814
Ensembl chr26:29,266,256...29,304,164

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 chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784

G

THAP domain containing 7

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:30,498,718...30,501,085
Ensembl chr26:30,498,785...30,525,906

G

trafficking protein particle complex subunit 10

OMIM:192430

NCBI chr31:37,910,480...37,999,559
Ensembl chr31:37,910,322...37,997,188

G

tRNA methyltransferase 2 homolog A

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:29,219,549...29,224,155
Ensembl chr26:29,219,812...29,226,233

G

testis specific serine kinase 2

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

G

thioredoxin reductase 2

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:29,381,823...29,430,239
Ensembl chr26:29,381,975...29,430,206

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 chr26:29,739,062...29,763,315
Ensembl chr26:29,739,153...29,763,313

G

zinc finger DHHC-type palmitoyltransferase 8

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:29,192,867...29,208,105
Ensembl chr26:29,193,682...29,208,105

G

zinc finger protein 74

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr26:30,170,410...30,216,172
Ensembl chr26:30,204,293...30,215,776

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 chr18:35,638,606...35,880,194
Ensembl chr18:35,639,011...36,024,005

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...

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 chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000

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 6:6,550,929...6,553,392
Ensembl chr 6:6,550,923...6,553,362

G

bromodomain adjacent to zinc finger domain 1B

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 6:6,709,648...6,776,904
Ensembl chr 6:6,709,697...6,776,867

G

BAF chromatin remodeling complex subunit BCL7B

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 6:6,680,619...6,701,601
Ensembl chr 6:6,680,735...6,700,639

G

BUD23 rRNA methyltransferase and ribosome maturation factor

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 6:6,583,612...6,596,538
Ensembl chr 6:6,583,616...6,595,281

G

claudin 3

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 6:6,534,229...6,535,237

G

claudin 4

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 6:6,492,706...6,506,750
Ensembl chr 6:6,493,513...6,494,145

G

CAP-Gly domain containing linker protein 2

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 6:6,029,072...6,089,974
Ensembl chr 6:6,030,793...6,081,420

G

discs large MAGUK scaffold protein 4

CTD Direct Evidence: marker/mechanism
OMIM:194050

NCBI chr 5:32,165,399...32,175,600
Ensembl chr 5:32,163,594...32,188,126

G

DnaJ heat shock protein family (Hsp40) member C30

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 6:6,595,233...6,596,440
Ensembl chr 6:6,595,294...6,595,974

G

eukaryotic translation initiation factor 4H

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 6:6,180,189...6,202,835
Ensembl chr 6:6,181,827...6,207,116

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 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325

G

FKBP prolyl isomerase family member 6 (inactive)

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 6:6,836,043...6,868,268
Ensembl chr 6:6,836,086...6,868,818

G

frizzled class receptor 3

maps to 2 Mb in chromosome band 7q11.23 deleted in WS

NCBI chr25:28,969,126...29,075,763
Ensembl chr25:28,952,477...29,075,851

G

frizzled class receptor 9

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 6:6,782,394...6,784,565
Ensembl chr 6:6,782,774...6,784,558

G

general transcription factor IIi

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 6:5,726,652...5,840,740
Ensembl chr 6:5,727,665...5,811,965

G

GTF2I repeat domain containing 1

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 6:5,887,757...5,997,627
Ensembl chr 6:5,886,931...5,963,873

G

linker for activation of T cells family member 2

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 6:6,160,939...6,175,271
Ensembl chr 6:6,161,542...6,173,294

G

LIM domain kinase 1

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 6:6,263,374...6,285,734
Ensembl chr 6:6,264,548...6,286,026

G

lysyl oxidase

OMIM:194050

NCBI chr11:12,023,645...12,040,015
Ensembl chr11:12,027,250...12,039,819

G

methyltransferase like 27

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 6:6,488,020...6,491,915
Ensembl chr 6:6,487,606...6,540,294

G

microRNA mir-590

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 6:6,186,538...6,186,598
Ensembl chr 6:6,186,538...6,186,598

G

MLX interacting protein like

ClinVar Annotator: match by term: Williams syndrome

PMID:25741868 PMID:28492532

NCBI chr 6:6,617,398...6,652,201
Ensembl chr 6:6,633,231...6,652,198

G

neutrophil cytosolic factor 1

DNA:deletion

NCBI chr 6:5,702,222...5,719,515
Ensembl chr 6:5,605,694...5,719,458

G

NOP2/Sun RNA methyltransferase 5

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 6:6,887,941...6,899,515
Ensembl chr 6:6,888,005...6,899,517

G

RCC1 like

NCBI chr 6:5,605,320...5,632,152

G

replication factor C subunit 2

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 6:6,119,203...6,159,293
Ensembl chr 6:6,119,164...6,160,886

G

SRC proto-oncogene, non-receptor tyrosine kinase

OMIM:194050

NCBI chr24:25,982,499...26,019,748
Ensembl chr24:25,999,048...26,018,077

G

syntaxin 1A

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 6:6,574,616...6,583,002
Ensembl chr 6:6,574,631...6,581,833

G

transducin beta like 2

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 6:6,656,158...6,664,900
Ensembl chr 6:6,656,035...6,660,963

G

transmembrane protein 270

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 6:6,472,495...6,475,051
Ensembl chr 6:6,472,520...6,474,976

G

tripartite motif containing 50

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 6:6,868,484...6,882,964
Ensembl chr 6:6,868,117...6,882,576

G

VPS37D subunit of ESCRT-I

ClinVar Annotator: match by term: Williams syndrome

NCBI chr 6:6,602,905...6,606,781
Ensembl chr 6:6,603,627...6,607,029

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 3:91,635,953...91,658,084
Ensembl chr 3:91,638,515...91,656,737

G

C-terminal binding protein 1

ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome

PMID:25741868 PMID:28492532

NCBI chr 3:91,385,733...91,400,252
Ensembl chr 3:91,379,049...91,400,656

G

fibroblast growth factor receptor like 1

ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome

PMID:25741868 PMID:28492532

NCBI chr 3:91,499,088...91,508,982

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 3:62,268,027...62,304,767
Ensembl chr 3:62,267,708...62,302,136

G

msh homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:70,232,790...70,236,295
Ensembl chr 3:70,232,052...70,236,447

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 3:62,164,888...62,228,006
Ensembl chr 3:62,167,939...62,228,035

G

NUF2 component of NDC80 kinetochore complex

ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome

NCBI chr38:19,574,122...19,599,821
Ensembl chr38:19,574,125...19,599,064

Term paths to the root

Path 1
Term	Annotations
disease	15755
Pathological Conditions, Signs and Symptoms	12314
Pathologic Processes	7823
Chromosome Aberrations	2830
Aneuploidy	1935
Monosomy	1660
Chromosome 18 Mosaic Monosomy	0
Chromosome Deletion +	1660

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