Monosomy - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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

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

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 chr16:69,842,709...69,907,075
Ensembl chr16:89,467,997...89,523,825

G

ankyrin repeat domain containing 11

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

NCBI chr16:69,994,926...70,242,659
Ensembl chr16:89,633,849...89,683,311

G

adenine phosphoribosyltransferase

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

NCBI chr16:69,522,628...69,525,138
Ensembl chr16:89,179,020...89,181,504

G

BTG3 associated nuclear protein

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

NCBI chr16:68,626,638...68,753,293

G

chromosome 18 C16orf95 homolog

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

NCBI chr16:67,973,069...67,987,773
Ensembl chr16:87,298,076...87,312,629

G

carbonic anhydrase 5A

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

NCBI chr16:68,564,400...68,618,614

G

CBFA2/RUNX1 partner transcriptional co-repressor 3

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

NCBI chr16:69,592,293...69,662,321
Ensembl chr16:89,246,545...89,347,435

G

cadherin 15

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

Ensembl chr16:89,543,888...89,562,843

G

chromatin licensing and DNA replication factor 1

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

NCBI chr16:69,516,728...69,522,419
Ensembl chr16:89,174,071...89,177,823

G

copine 7

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

NCBI chr16:70,327,952...70,349,898
Ensembl chr16:89,936,172...89,955,115

G

cytosolic thiouridylase subunit 2

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

NCBI chr16:69,419,811...69,428,500
Ensembl chr16:89,079,132...89,088,231

G

F-box protein 31

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

NCBI chr16:67,997,481...68,053,081
Ensembl chr16:87,322,364...87,377,104

G

galactosamine (N-acetyl)-6-sulfatase

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

NCBI chr16:69,557,956...69,571,421
Ensembl chr16:89,183,950...89,217,036

G

interleukin 17C

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

NCBI chr16:69,347,233...69,353,562
Ensembl chr16:89,011,688...89,013,678

G

junctophilin 3

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

NCBI chr16:68,276,459...68,379,909
Ensembl chr16:87,596,814...87,700,235

G

kelch domain containing 4

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

NCBI chr16:68,384,552...68,448,167
Ensembl chr16:87,702,744...87,764,605

G

cytochrome b-245 light chain

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

NCBI chr16:69,356,396...69,364,225
Ensembl chr16:89,016,349...89,024,719

G

microtubule associated protein 1 light chain 3 beta

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

NCBI chr16:68,063,869...68,076,772

G

mevalonate diphosphate decarboxylase

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

NCBI chr16:69,365,070...69,376,149
Ensembl chr16:89,025,572...89,036,964

G

PABPN1 like, cytoplasmic

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

NCBI chr16:69,579,421...69,583,803
Ensembl chr16:89,234,156...89,237,595

G

piezo type mechanosensitive ion channel component 1 (Er blood group)

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

NCBI chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068

G

ring finger protein 166

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

NCBI chr16:69,409,777...69,419,761

G

ribosomal protein L13

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

NCBI chr16:70,312,241...70,314,956

G

solute carrier family 22 member 31

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

G

solute carrier family 7 member 5

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

NCBI chr16:68,512,407...68,552,763

G

snail family transcriptional repressor 3

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

NCBI chr16:69,390,929...69,400,971
Ensembl chr16:89,051,479...89,059,704

G

trafficking protein particle complex subunit 2L

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

NCBI chr16:69,571,438...69,575,556
Ensembl chr16:89,226,220...89,231,854

G

zinc finger CCCH-type containing 18

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

NCBI chr16:69,282,652...69,345,077
Ensembl chr16:88,944,517...89,005,199

G

zinc finger CCHC-type containing 14

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

NCBI chr16:68,078,237...68,165,406
Ensembl chr16:87,401,184...87,486,124

G

zinc finger protein, FOG family member 1

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

NCBI chr16:69,164,299...69,246,136

G

zinc finger protein 469

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

NCBI chr16:68,777,496...69,151,995
Ensembl chr16:88,803,202...88,815,390

G

zinc finger protein 778

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

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 1:154,586,423...154,711,621
Ensembl chr 1:158,280,994...158,313,915

G

acyl-CoA binding domain containing 6

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:155,774,799...155,988,767
Ensembl chr 1:159,448,023...159,661,741

G

angiopoietin like 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:154,339,139...154,360,540
Ensembl chr 1:158,030,657...158,052,089

G

ankyrin repeat domain 45

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 1:149,127,108...149,232,776
Ensembl chr 1:152,832,935...152,892,971

G

astrotactin 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:152,385,103...152,688,885
Ensembl chr 1:156,085,398...156,284,771

G

ATPase Na+/K+ transporting subunit beta 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:144,592,667...144,621,052
Ensembl chr 1:148,314,793...148,342,050

G

axonemal dynein light chain domain containing 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:154,847,978...155,043,339
Ensembl chr 1:158,536,967...158,724,251

G

basic leucine zipper nuclear factor 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:144,850,261...144,870,672
Ensembl chr 1:148,572,418...148,592,827

G

BMP/retinoic acid inducible neural specific 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:152,694,667...152,806,085
Ensembl chr 1:156,450,411...156,502,742

G

chromosome 1 C1orf105 homolog

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:147,942,148...147,966,867
Ensembl chr 1:151,628,511...151,676,565

G

calcium voltage-gated channel subunit alpha1 E

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:156,796,855...157,296,987
Ensembl chr 1:160,628,089...160,949,270

G

calcyclin binding protein

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 1:150,511,021...150,522,369
Ensembl chr 1:154,210,001...154,220,583

G

coiled-coil domain containing 181

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:144,877,237...144,943,380
Ensembl chr 1:148,599,559...148,632,247

G

centromere protein L

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 1:149,317,149...149,342,267
Ensembl chr 1:153,020,837...153,045,866

G

centrosomal protein 350

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:155,436,014...155,601,800
Ensembl chr 1:159,147,376...159,271,848

G

COP1 E3 ubiquitin ligase

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:151,459,354...151,727,131
Ensembl chr 1:155,156,185...155,425,156

G

aspartyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 1:149,342,301...149,375,979
Ensembl chr 1:153,045,886...153,080,461

G

DExH-box helicase 9

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:158,355,472...158,404,178
Ensembl chr 1:162,006,822...162,055,833

G

dynamin 3

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:147,339,773...147,916,513
Ensembl chr 1:151,049,346...151,615,808

G

coagulation factor V

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:144,996,757...145,070,046
Ensembl chr 1:148,718,897...148,790,915

G

FAM20B glycosaminoglycan xylosylkinase

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:154,510,050...154,558,868
Ensembl chr 1:158,217,079...158,249,897

G

Fas ligand

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281

G

FIGNL1 interacting regulator of recombination and mitosis

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:145,277,657...145,340,329
Ensembl chr 1:148,999,127...149,057,553

G

flavin containing dimethylaniline monoxygenase 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:146,742,505...146,778,560
Ensembl chr 1:150,456,729...150,492,527

G

flavin containing dimethylaniline monoxygenase 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:146,678,858...146,704,831
Ensembl chr 1:150,393,061...150,417,295

G

flavin containing dimethylaniline monoxygenase 3

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:146,583,570...146,611,720
Ensembl chr 1:150,298,957...150,325,850

G

flavin containing dimethylaniline monoxygenase 4

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:146,806,413...146,834,315
Ensembl chr 1:150,520,375...150,548,270

G

glutamate-ammonia ligase

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:157,882,258...157,891,562
Ensembl chr 1:161,534,106...161,543,411

G

golgin, RAB6 interacting

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:146,020,446...146,042,334
Ensembl chr 1:149,736,641...149,758,010

G

G protein-coupled receptor 52

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 1:149,954,556...149,959,653

G

immediate early response 5

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:156,565,169...156,569,648

G

KIAA0040 ortholog

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 1:150,669,479...150,705,474
Ensembl chr 1:154,370,708...154,371,004

G

KIAA1614 ortholog

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:156,389,268...156,428,773
Ensembl chr 1:160,061,085...160,090,396

G

kinesin associated protein 3

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:145,410,755...145,564,248
Ensembl chr 1:149,127,548...149,280,831

G

kelch like family member 20

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 1:149,232,858...149,303,357
Ensembl chr 1:152,937,835...153,008,239

G

laminin subunit gamma 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:158,541,635...158,663,836
Ensembl chr 1:162,700,704...162,822,534

G

laminin subunit gamma 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:158,697,084...158,763,209
Ensembl chr 1:162,862,785...162,921,864

G

LIM homeobox 4

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:155,716,853...155,765,419
Ensembl chr 1:159,390,105...159,438,802

G

major histocompatibility complex class I-related gene protein

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:156,510,588...156,538,447
Ensembl chr 1:160,178,106...160,198,420

G

protein FAM163A

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:155,223,640...155,297,354
Ensembl chr 1:158,974,145...158,977,214

G

torsin-1A-interacting protein 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:155,321,181...155,358,966
Ensembl chr 1:159,005,944...159,039,058

G

methyltransferase 13, eEF1A N-terminus and K55

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:147,279,795...147,295,884
Ensembl chr 1:150,986,851...151,005,571

G

methyltransferase 18, RPL3 N3(tau)-histidine

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:145,275,161...145,277,751
Ensembl chr 1:148,996,597...148,997,715

G

maestro heat like repeat family member 9

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:146,425,586...146,557,901
Ensembl chr 1:150,141,104...150,273,143

G

mitochondrial ribosomal protein S14

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 1:150,524,532...150,535,053
Ensembl chr 1:154,222,744...154,233,292

G

myocilin

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:147,128,541...147,146,227
Ensembl chr 1:150,841,630...150,858,628

G

neutrophil cytosolic factor 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:159,085,923...159,121,259
Ensembl chr 1:163,243,636...163,278,420

G

NME/NM23 family member 7

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:144,620,719...144,850,230
Ensembl chr 1:148,343,026...148,572,499

G

nicotinamide nucleotide adenylyltransferase 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:158,768,949...158,948,711
Ensembl chr 1:162,929,609...163,105,524

G

NPHS2 stomatin family member, podocin

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:155,038,753...155,064,332

G

N-acetylneuraminate pyruvate lyase

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:158,305,203...158,346,531
Ensembl chr 1:161,958,896...161,997,222

G

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

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:145,635,789...145,658,564
Ensembl chr 1:149,352,738...149,374,488

G

pappalysin 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:151,727,598...152,369,670
Ensembl chr 1:155,769,395...156,063,989

G

phosphatidylinositol glycan anchor biosynthesis class C

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:147,891,867...147,942,057
Ensembl chr 1:151,649,468...151,650,361

G

peroxiredoxin 6

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 1:148,988,836...149,000,345

G

proline rich coiled-coil 2C

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:146,979,651...147,089,506
Ensembl chr 1:150,693,780...150,801,477

G

paired related homeobox 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:146,151,633...146,227,926
Ensembl chr 1:149,867,634...149,943,810

G

quiescin sulfhydryl oxidase 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:155,641,793...155,687,231
Ensembl chr 1:159,313,245...159,358,672

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 1:149,676,356...150,506,884
Ensembl chr 1:153,437,265...154,199,810

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 1:154,224,362...154,411,202
Ensembl chr 1:157,916,856...158,097,550

G

RAS protein activator like 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:153,609,277...153,986,155
Ensembl chr 1:157,303,646...157,670,415

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 1:149,454,748...149,539,566
Ensembl chr 1:153,160,661...153,213,402

G

regulator of G protein signaling 16

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:158,117,257...158,123,031
Ensembl chr 1:161,765,595...161,774,709

G

regulator of G protein signaling 8

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:158,160,368...158,268,521
Ensembl chr 1:161,813,540...161,855,027

G

regulator of G protein signaling like 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:157,967,552...158,079,341
Ensembl chr 1:161,619,801...161,730,852

G

ribonuclease L

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:158,092,346...158,108,026
Ensembl chr 1:161,741,645...161,760,045

G

SCY1 like pseudokinase 3

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:145,299,266...145,383,511
Ensembl chr 1:149,057,194...149,095,445

G

SEC16 homolog B, endoplasmic reticulum export factor

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:153,445,298...153,555,082
Ensembl chr 1:157,139,709...157,179,830

G

selectin E

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:145,205,684...145,217,143
Ensembl chr 1:148,930,437...148,938,313

G

selectin L

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:145,173,700...145,194,927
Ensembl chr 1:148,895,373...148,916,393

G

selectin P

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:145,071,094...145,112,851
Ensembl chr 1:148,793,677...148,834,701

G

serpin family C member 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 1:149,421,737...149,435,301
Ensembl chr 1:153,126,031...153,139,369

G

SHC binding and spindle associated 1 like

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:158,416,397...158,470,003
Ensembl chr 1:162,067,996...162,629,927

G

solute carrier family 19 member 2

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:144,946,248...144,968,736
Ensembl chr 1:148,668,687...148,690,713

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 1:149,012,063...149,127,843
Ensembl chr 1:152,718,175...152,826,534

G

SMG7 nonsense mediated mRNA decay factor

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:159,002,363...159,084,572
Ensembl chr 1:163,159,362...163,242,285

G

sterol O-acyltransferase 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:154,776,305...154,840,594
Ensembl chr 1:158,464,886...158,524,909

G

syntaxin 6

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:156,450,202...156,500,143
Ensembl chr 1:160,117,825...160,167,314

G

SUN domain containing ossification factor

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:148,030,922...148,112,755
Ensembl chr 1:151,739,934...151,821,285

G

tudor domain containing 5

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:155,080,083...155,171,734
Ensembl chr 1:158,761,013...158,852,660

G

transmembrane epididymal protein 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:157,897,568...157,917,608
Ensembl chr 1:161,550,771...161,569,394

G

testis expressed 35

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:154,017,637...154,036,483
Ensembl chr 1:157,710,118...157,720,659

G

TNF superfamily member 18

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

G

TNF superfamily member 4

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 1:148,684,689...148,989,775
Ensembl chr 1:152,391,450...152,415,845
Ensembl chr 1:152,391,450...152,415,845

G

tenascin N

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 1:150,580,248...150,661,687
Ensembl chr 1:154,278,714...154,357,823

G

tenascin R

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

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

NCBI chr 1:150,826,892...151,257,301
Ensembl chr 1:154,532,582...154,615,538

G

torsin 1A interacting protein 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:155,362,806...155,401,185
Ensembl chr 1:159,043,072...159,081,408

G

torsin family 3 member A

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:154,563,795...154,578,339
Ensembl chr 1:158,255,410...158,271,166

G

vesicle associated membrane protein 4

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

NCBI chr 1:147,192,001...147,233,945
Ensembl chr 1:150,903,134...150,944,815

G

xenotropic and polytropic retrovirus receptor 1

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:156,121,029...156,367,565
Ensembl chr 1:159,790,170...160,029,208

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 1:149,386,001...149,406,436
Ensembl chr 1:153,090,898...153,109,767

G

zinc finger protein 648

ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome

PMID:21548129 PMID:21681106 PMID:26333682

NCBI chr 1:157,546,709...157,560,498
Ensembl chr 1:161,208,135...161,209,841

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 chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916

G

SIX homeobox 1

NCBI chr14:41,250,512...41,256,567
Ensembl chr14:59,515,324...59,527,494

G

T-box transcription factor 1

NCBI chr22:2,521,080...2,541,267

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 chr 3:15,591,890...15,785,997
Ensembl chr 3:15,932,020...16,057,647

G

biotinidase

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,526,339...15,575,475
Ensembl chr 3:15,863,489...15,907,497

G

chromosome 2 C3orf20 homolog

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,600,078...14,695,130
Ensembl chr 3:14,936,746...15,034,701

G

calpain 7

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,131,774...15,177,836
Ensembl chr 3:15,468,890...15,515,528

G

coiled-coil domain containing 174

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,574,082...14,595,025
Ensembl chr 3:14,913,328...14,934,261

G

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

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,030,410...14,043,233
Ensembl chr 3:14,370,854...14,383,660

G

collagen like tail subunit of asymmetric acetylcholinesterase

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,373,589...15,447,613
Ensembl chr 3:15,712,630...15,784,299

G

deleted in azoospermia like

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,514,327...16,625,601
Ensembl chr 3:16,851,158...16,862,963

G

diphthamide biosynthesis 3

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,183,158...16,190,184
Ensembl chr 3:16,520,076...16,527,196

G

ELL associated factor 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,353,459...15,368,579
Ensembl chr 3:15,689,745...15,705,300

G

EF-hand domain family member B

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,798,204...19,855,338
Ensembl chr 3:20,128,668...20,184,718

G

fibulin 2

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,469,679...13,558,241
Ensembl chr 3:13,812,462...13,900,332

G

FYVE, RhoGEF and PH domain containing 5

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,732,712...14,856,251
Ensembl chr 3:15,072,214...15,195,608

G

polypeptide N-acetylgalactosaminyltransferase 15

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,099,794...16,152,941
Ensembl chr 3:16,436,838...16,494,038

G

glutamate receptor interacting protein 2

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,411,825...14,525,388
Ensembl chr 3:14,756,638...14,804,952

G

2-hydroxyacyl-CoA lyase 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,486,897...15,526,552
Ensembl chr 3:15,823,979...15,863,982

G

histone deacetylase 11

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,400,788...13,427,010
Ensembl chr 3:13,744,475...13,769,997

G

lysine acetyltransferase 2B

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,956,067...20,070,637
Ensembl chr 3:20,286,865...20,400,770

G

potassium voltage-gated channel subfamily H member 8

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,063,663...19,461,752
Ensembl chr 3:19,498,421...19,787,890

G

LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,097,035...14,165,942
Ensembl chr 3:14,437,497...14,456,726

G

methyltransferase 6, tRNA N3-cytidine

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,306,890...15,353,505
Ensembl chr 3:15,643,545...15,690,238

G

mitochondrial ribosomal protein S25

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,934,006...14,989,899
Ensembl chr 3:15,313,061...15,328,594

G

nuclear receptor subfamily 2 group C member 2

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,869,292...14,973,977
Ensembl chr 3:15,220,110...15,306,242

G

nucleoporin 210

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,236,064...13,339,807
Ensembl chr 3:13,581,763...13,664,011

G

oxidoreductase NAD binding domain containing 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,190,264...16,277,168
Ensembl chr 3:16,527,259...16,584,621

G

phospholipase C like 2

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,736,430...17,015,531
Ensembl chr 3:17,154,500...17,351,287

G

protein phosphatase 2C like domain containing 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,903,905...19,930,536
Ensembl chr 3:20,233,831...20,261,322

G

RAB5A, member RAS oncogene family

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:19,866,110...19,903,701
Ensembl chr 3:20,197,067...20,234,579

G

rabenosyn, RAB effector

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,994,647...15,023,733
Ensembl chr 3:15,333,359...15,362,361

G

raftlin, lipid raft linker 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:16,241,255...16,441,402
Ensembl chr 3:16,578,092...16,778,464

G

SATB homeobox 1

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:18,267,819...18,368,924
Ensembl chr 3:18,602,204...18,681,211

G

SET domain containing 5

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306

G

SH3 domain binding protein 5

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:15,180,369...15,257,951
Ensembl chr 3:15,517,447...15,594,971

G

solute carrier family 6 member 6

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,323,251...14,411,949
Ensembl chr 3:14,663,955...14,752,326

G

TBC1 domain family member 5

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:17,080,589...17,664,776
Ensembl chr 3:17,416,307...17,768,132

G

THUMP domain 3 tRNA guanosine methyltransferase

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:9,315,275...9,338,096
Ensembl chr 3:9,557,894...9,581,157

G

transmembrane protein 43

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,043,369...14,062,064
Ensembl chr 3:14,383,983...14,400,587

G

Wnt family member 7A

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:13,733,487...13,797,189
Ensembl chr 3:14,077,839...14,138,386

G

XPC complex subunit, DNA damage recognition and repair factor

ClinVar Annotator: match by term: 3p- syndrome

NCBI chr 3:14,063,499...14,097,023
Ensembl chr 3:14,403,958...14,437,377

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 chr17:66,028,737...66,034,122

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 9:650,678...778,519
Ensembl chr 9:844,366...972,656

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 1:219,660,496...219,669,134
Ensembl chr 1:225,042,281...225,050,259

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 chr10:83,185,040...83,353,239
Ensembl chr10:86,837,469...86,912,912

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 chr11:31,473,439...31,754,446

G

paired box 6

ClinVar Annotator: match by term: 11p deletion syndrome

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

NCBI chr11:31,753,190...31,782,225
Ensembl chr11:31,641,813...31,664,474

G

WT1 transcription factor

ClinVar Annotator: match by term: 11p deletion syndrome

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

NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249

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 chr13:58,166,872...58,176,146
Ensembl chr13:77,211,430...77,222,201

G

ALG11 alpha-1,2-mannosyltransferase

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

NCBI chr13:33,144,708...33,166,033
Ensembl chr13:51,888,738...51,905,894

G

ARF like GTPase 11

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

NCBI chr13:30,767,431...30,770,962
Ensembl chr13:49,518,030...49,518,620

G

ATPase copper transporting beta

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

NCBI chr13:33,063,698...33,144,528
Ensembl chr13:51,810,555...51,851,839

G

BORA aurora kinase A activator

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

NCBI chr13:53,956,913...53,985,355
Ensembl chr13:72,733,006...72,761,432

G

chromosome 14 C13orf42 homolog

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

NCBI chr13:32,216,898...32,247,120

G

calcium binding protein 39 like

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

NCBI chr13:30,446,643...30,584,608
Ensembl chr13:49,198,143...49,288,816

G

coiled-coil domain containing 70

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

NCBI chr13:32,991,931...32,997,329
Ensembl chr13:51,741,930...51,742,631

G

cytidine and dCMP deaminase domain containing 1

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

NCBI chr13:30,386,671...30,432,112
Ensembl chr13:49,138,498...49,186,541

G

cytoskeleton associated protein 2

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

NCBI chr13:33,371,744...33,393,483
Ensembl chr13:52,378,278...52,399,608

G

CLN5 intracellular trafficking protein

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

NCBI chr13:58,207,542...58,220,697
Ensembl chr13:77,253,203...77,263,759

G

chondromodulin

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

NCBI chr13:33,737,029...33,776,588
Ensembl chr13:52,547,943...52,584,720

G

COMM domain containing 6

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

NCBI chr13:56,752,787...56,764,664
Ensembl chr13:75,526,128...75,537,499

G

cysteinyl leukotriene receptor 2

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

NCBI chr13:29,796,598...29,853,676
Ensembl chr13:48,551,757...48,552,797

G

dachshund family transcription factor 1

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

NCBI chr13:52,666,569...53,098,257

G

dehydrogenase/reductase 12

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

NCBI chr13:32,897,182...32,932,715
Ensembl chr13:51,642,208...51,672,203

G

diaphanous related formin 3

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

NCBI chr13:40,846,270...41,335,920
Ensembl chr13:59,676,307...60,056,672

G

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

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

NCBI chr13:53,982,914...54,011,076
Ensembl chr13:72,760,610...72,787,325

G

deleted in lymphocytic leukemia 7

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

NCBI chr13:31,834,182...31,982,703
Ensembl chr13:50,706,111...50,726,445

G

EBP like

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

NCBI chr13:30,799,832...30,830,670
Ensembl chr13:49,548,230...49,578,820

G

endothelin receptor type B

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

NCBI chr13:59,112,349...59,136,615
Ensembl chr13:78,153,020...78,177,286

G

family with sequence similarity 124 member A

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

NCBI chr13:32,356,260...32,418,132
Ensembl chr13:51,101,704...51,163,916

G

F-box and leucine rich repeat protein 3

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

NCBI chr13:58,219,260...58,244,780
Ensembl chr13:77,266,496...77,283,651

G

fibronectin type III domain containing 3A

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

NCBI chr13:30,119,740...30,347,544
Ensembl chr13:48,820,018...49,049,274

G

heterogeneous nuclear ribonucleoprotein A1 like 2

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

NCBI chr13:33,653,693...33,680,196
Ensembl chr13:52,487,132...52,488,093

G

integrator complex subunit 6

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

NCBI chr13:32,487,169...32,583,415
Ensembl chr13:51,242,452...51,327,882

G

integral membrane protein 2B

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

NCBI chr13:29,383,318...29,412,018

G

potassium channel regulator

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

NCBI chr13:31,154,531...31,161,081
Ensembl chr13:49,901,696...49,908,169

G

potassium channel tetramerization domain containing 12

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

NCBI chr13:58,097,764...58,104,972

G

KLF transcription factor 12

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

NCBI chr13:54,916,443...55,535,131
Ensembl chr13:73,697,912...73,996,956

G

KLF transcription factor 5

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

G

kelch like family member 1

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

NCBI chr13:50,906,581...51,335,692
Ensembl chr13:69,691,537...70,118,448

G

karyopherin subunit alpha 3

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

NCBI chr13:30,838,320...30,931,608
Ensembl chr13:49,586,544...49,679,906

G

LIM domain 7

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

NCBI chr13:56,846,724...57,084,178
Ensembl chr13:75,894,529...76,130,080

G

LMO7 downstream neighbor protein

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

NCBI chr13:57,096,039...57,109,497

G

protocadherin-8

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

NCBI chr13:33,880,543...33,886,243
Ensembl chr13:52,688,522...52,692,399

G

putative UPF0607 protein ENSP00000383144

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

NCBI chr13:58,877,777...58,879,200

G

uncharacterized LOC130540719

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

G

lysophosphatidic acid receptor 6

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

NCBI chr13:29,561,219...29,567,414
Ensembl chr13:48,263,254...48,264,291

G

mediator complex subunit 4

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

NCBI chr13:29,227,620...29,247,082
Ensembl chr13:47,929,918...47,948,836

G

motilin receptor

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

NCBI chr13:30,358,092...30,362,419
Ensembl chr13:49,109,918...49,111,850

G

MYC binding protein 2

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

NCBI chr13:58,262,251...58,544,819
Ensembl chr13:77,306,509...77,586,843

G

mitotic spindle organizing protein 1

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

NCBI chr13:53,937,689...53,956,954

G

Nedd4 family interacting protein 2

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

NCBI chr13:60,717,590...60,792,373
Ensembl chr13:79,745,362...79,820,286

G

NIMA related kinase 3

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

NCBI chr13:33,261,186...33,288,316
Ensembl chr13:52,003,518...52,030,212

G

NIMA related kinase 5

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

NCBI chr13:33,166,069...33,260,990
Ensembl chr13:51,938,342...51,998,357

G

nudix hydrolase 15

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

NCBI chr13:29,189,459...29,198,825
Ensembl chr13:47,891,557...47,900,971

G

ORC ubiquitin ligase 1

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

NCBI chr13:59,840,406...59,884,765
Ensembl chr13:78,874,466...78,918,446

G

olfactomedin 4

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

NCBI chr13:34,066,155...34,089,468
Ensembl chr13:52,873,289...52,896,827

G

protocadherin 17

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

NCBI chr13:38,801,514...38,900,811
Ensembl chr13:57,532,850...57,631,725

G

protocadherin 20

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

NCBI chr13:42,582,806...42,588,890
Ensembl chr13:61,300,554...61,318,534

G

protocadherin 9

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

NCBI chr13:47,512,960...48,430,521
Ensembl chr13:66,310,212...67,222,134

G

PHD finger protein 11

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

NCBI chr13:30,636,035...30,670,262
Ensembl chr13:49,386,374...49,419,310

G

progesterone immunomodulatory binding factor 1

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

NCBI chr13:54,011,239...54,247,952
Ensembl chr13:72,788,608...73,022,473

G

POU class 4 homeobox 1

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

NCBI chr13:59,821,614...59,829,671

G

RB transcriptional corepressor 1

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

NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575

G

RNA binding motif protein 26

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

NCBI chr13:60,547,197...60,642,551
Ensembl chr13:79,585,632...79,670,999

G

RCC1 and BTB domain containing protein 1

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

NCBI chr13:30,673,230...30,727,480
Ensembl chr13:49,422,283...49,475,857

G

RCC1 and BTB domain containing protein 2

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

NCBI chr13:29,631,741...29,675,959
Ensembl chr13:48,332,860...48,377,336

G

ribonuclease H2 subunit B

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

NCBI chr13:32,047,830...32,108,573
Ensembl chr13:50,795,701...50,852,909

G

sciellin

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

NCBI chr13:58,772,893...58,861,813
Ensembl chr13:77,795,230...77,904,016

G

serpin family E member 3

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

NCBI chr13:32,475,429...32,496,700
Ensembl chr13:51,220,735...51,241,791

G

SET domain bifurcated histone lysine methyltransferase 2

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

NCBI chr13:30,584,762...30,635,408
Ensembl chr13:49,335,894...49,386,150

G

SLAIN motif family member 1

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

NCBI chr13:58,914,327...58,981,193

G

SLIT and NTRK like family member 1

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

NCBI chr13:65,081,844...65,087,135
Ensembl chr13:84,253,287...84,256,069

G

SLIT and NTRK like family member 6

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

NCBI chr13:66,990,025...67,003,900
Ensembl chr13:86,161,905...86,164,430

G

sprouty RTK signaling antagonist 2

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

NCBI chr13:61,569,658...61,574,817
Ensembl chr13:80,596,346...80,597,408

G

SPRY domain containing 7

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

NCBI chr13:31,053,278...31,076,746
Ensembl chr13:49,801,309...49,824,463

G

succinate-CoA ligase ADP-forming subunit beta

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

NCBI chr13:29,095,062...29,189,618
Ensembl chr13:47,797,472...47,856,138

G

SGT1 homolog, MIS12 kinetochore complex assembly cochaperone

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

NCBI chr13:33,688,941...33,724,687
Ensembl chr13:52,497,557...52,532,434

G

TBC1 domain family member 4

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

NCBI chr13:56,513,065...56,706,491
Ensembl chr13:75,282,441...75,361,729

G

tudor domain containing 3

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

NCBI chr13:41,568,080...41,750,288
Ensembl chr13:60,290,518...60,470,245

G

thrombospondin type 1 domain containing 1

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

NCBI chr13:33,442,480...33,472,259
Ensembl chr13:52,301,206...52,330,504

G

transmembrane protein 272

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

NCBI chr13:32,940,896...33,065,397

G

tripartite motif containing 13

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

NCBI chr13:31,137,236...31,153,398
Ensembl chr13:49,889,041...49,900,488

G

ubiquitin C-terminal hydrolase L3

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

NCBI chr13:56,776,436...56,832,539
Ensembl chr13:75,549,647...75,878,673

G

UTP14C small subunit processome component

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

NCBI chr13:33,144,810...33,166,033
Ensembl chr13:51,905,055...51,908,218

G

vacuolar protein sorting 36 homolog

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

NCBI chr13:33,398,165...33,436,615
Ensembl chr13:52,336,484...52,372,851

G

WD repeat and FYVE domain containing 2

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

NCBI chr13:32,714,088...32,896,885
Ensembl chr13:51,535,071...51,636,052

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 chr15:167,863...400,296
Ensembl chr15:27,174,217...27,241,529

G

ATPase phospholipid transporting 10A (putative)

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

PMID:25741868 PMID:31690835

NCBI chr15:4,064,605...4,262,695
Ensembl chr15:23,090,927...23,275,674

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 7:64,822,964...66,015,831
Ensembl chr 7:77,495,909...78,686,763

G

coiled-coil domain containing 92B

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

NCBI chr17:2,711,407...2,740,361

G

clustered mitochondria homolog

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

NCBI chr17:2,680,660...2,703,205
Ensembl chr17:2,685,994...2,700,587

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

Ensembl chr15:20,462,811...20,573,684

G

endosomal transmembrane epsin interactor 2

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

NCBI chr15:400,828...861,377
Ensembl chr15:26,915,381...27,176,793

G

gamma-aminobutyric acid type A receptor subunit alpha5

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

PMID:25741868 PMID:31690835

NCBI chr15:2,953,857...3,036,722
Ensembl chr15:24,300,300...24,382,730

G

gamma-aminobutyric acid type A receptor subunit beta3

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

PMID:25741868 PMID:31690835

NCBI chr15:3,129,481...3,357,495
Ensembl chr15:23,981,359...24,058,357

G

gamma-aminobutyric acid type A receptor subunit gamma3

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

PMID:25741868 PMID:31690835

NCBI chr15:2,371,468...2,932,250
Ensembl chr15:24,409,611...24,959,987

G

golgin A6 family like 2

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

PMID:25741868 PMID:31690835

NCBI chr15:6,213,121...6,224,509

G

golgin A6 family like 7

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

NCBI chr15:126,343...133,909

G

E3 ubiquitin-protein ligase HERC2

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

PMID:25741868 PMID:31690835

NCBI chr15:1,590,558...1,800,023
Ensembl chr15:25,536,483...25,746,074

G

neuronal acetylcholine receptor subunit alpha-7

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

NCBI chr15:10,525,535...10,667,227
Ensembl chr15:29,565,885...29,705,194

G

MAGE family member L2

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

PMID:25741868 PMID:31690835

NCBI chr15:6,017,523...6,021,849
Ensembl chr15:21,134,857...21,138,576

G

makorin ring finger protein 3

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

PMID:25741868 PMID:31690835

NCBI chr15:6,036,034...6,099,137

G

necdin, MAGE family member

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

PMID:25741868 PMID:31690835

NCBI chr15:5,977,519...5,979,185

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

Ensembl chr15:20,617,547...20,655,686

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

Ensembl chr15:20,574,757...20,603,745

G

nuclear pore associated protein 1

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

PMID:25741868 PMID:31690835

NCBI chr15:5,268,210...5,272,017

G

NSE3 homolog, SMC5-SMC6 complex component

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

NCBI chr15:550,856...552,543
Ensembl chr15:27,027,373...27,028,285

G

OCA2 melanosomal transmembrane protein

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

PMID:25741868 PMID:31690835

NCBI chr15:1,811,728...2,192,018
Ensembl chr15:25,181,386...25,523,774

G

OTU deubiquitinase 7A

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

NCBI chr15:9,974,737...10,360,991

G

platelet activating factor acetylhydrolase 1b regulatory subunit 1

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

NCBI chr17:2,584,349...2,676,928
Ensembl chr17:2,590,007...2,680,994

G

RAP1 GTPase activating protein 2

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

NCBI chr17:2,742,454...3,031,659
Ensembl chr17:2,760,790...3,025,393

G

small nuclear ribonucleoprotein polypeptide N

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

PMID:25741868 PMID:31690835

NCBI chr15:4,970,013...5,124,478
Ensembl chr15:22,347,242...22,371,062

G

SNRPN upstream open reading frame

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

PMID:25741868 PMID:31690835

NCBI chr15:4,971,565...4,993,651
Ensembl chr15:22,347,242...22,371,062

G

tight junction protein 1

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

NCBI chr15:981,198...1,249,292
Ensembl chr15:26,344,878...26,598,878

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

Ensembl chr15:20,403,757...20,444,851

G

ubiquitin protein ligase E3A

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

PMID:25741868 PMID:31690835

NCBI chr15:4,494,029...4,595,415
Ensembl chr15:22,747,075...22,825,459

chromosome 15q13.3 microdeletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FANCD2 and FANCI associated nuclease 1

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

NCBI chr15:9,395,348...9,435,434
Ensembl chr15:28,433,749...28,473,211

G

KLF transcription factor 13

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

NCBI chr15:9,818,294...9,964,912

G

neuronal acetylcholine receptor subunit alpha-7

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

PMID:25741868 PMID:31690835

NCBI chr15:10,525,535...10,667,227
Ensembl chr15:29,565,885...29,705,194

G

myotubularin related protein 10

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

NCBI chr15:9,431,261...9,484,107
Ensembl chr15:28,469,039...28,521,997

G

OTU deubiquitinase 7A

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

NCBI chr15:9,974,737...10,360,991

G

transient receptor potential cation channel subfamily M member 1

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

NCBI chr15:9,492,500...9,653,644
Ensembl chr15:28,530,878...28,690,947

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 chr15:54,630,808...54,636,066
Ensembl chr15:74,225,859...74,229,571

G

COMM domain containing 4

ClinVar Annotator: match by term: Witteveen-kolk syndrome

PMID:18755302 PMID:19557438 PMID:21681106

NCBI chr15:54,252,289...54,256,637
Ensembl chr15:73,848,231...73,852,531

G

chondroitin sulfate proteoglycan 4

ClinVar Annotator: match by term: Witteveen-kolk syndrome

PMID:18755302 PMID:19557438 PMID:21681106

NCBI chr15:54,583,010...54,621,240
Ensembl chr15:74,177,909...74,200,498

G

IMP U3 small nucleolar ribonucleoprotein 3

ClinVar Annotator: match by term: Witteveen-kolk syndrome

PMID:18755302 PMID:19557438 PMID:21681106

NCBI chr15:54,547,455...54,548,633
Ensembl chr15:74,141,156...74,141,710

G

mannosidase alpha class 2C member 1

ClinVar Annotator: match by term: Witteveen-kolk syndrome

PMID:18755302 PMID:19557438 PMID:21681106

NCBI chr15:54,272,142...54,285,102
Ensembl chr15:73,868,134...73,880,704

G

nei like DNA glycosylase 1

ClinVar Annotator: match by term: Witteveen-kolk syndrome

PMID:18755302 PMID:19557438 PMID:21681106

NCBI chr15:54,263,424...54,271,601
Ensembl chr15:73,858,910...73,867,474

G

protein tyrosine phosphatase non-receptor type 9

ClinVar Annotator: match by term: Witteveen-kolk syndrome

PMID:18755302 PMID:19557438 PMID:21681106

NCBI chr15:54,382,689...54,489,942
Ensembl chr15:73,978,147...74,034,204

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 chr15:54,285,587...54,371,376
Ensembl chr15:73,881,500...73,966,506

G

snurportin 1

ClinVar Annotator: match by term: Witteveen-kolk syndrome

PMID:18755302 PMID:19557438 PMID:21681106

NCBI chr15:54,508,586...54,536,301
Ensembl chr15:74,102,753...74,126,511

G

sorting nexin 33

ClinVar Annotator: match by term: Witteveen-kolk syndrome

PMID:18755302 PMID:19557438 PMID:21681106

NCBI chr15:54,556,304...54,570,683
Ensembl chr15:74,151,053...74,159,584

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 chr15:78,703,728...79,076,861
Ensembl chr15:97,999,448...98,366,893

G

aldehyde dehydrogenase 1 family member A3

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

NCBI chr15:79,603,893...79,640,866
Ensembl chr15:98,891,770...98,928,396

G

ankyrin repeat and SOCS box containing 7

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

NCBI chr15:79,328,868...79,378,039
Ensembl chr15:98,616,797...98,666,094

G

ceramide synthase 3

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

NCBI chr15:79,128,338...79,272,018
Ensembl chr15:98,422,256...98,521,775

G

chondroitin sulfate synthase 1

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

NCBI chr15:79,901,340...79,976,067
Ensembl chr15:99,186,705...99,260,591

G

insulin like growth factor 1 receptor

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

NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974

G

lines homolog 1

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

NCBI chr15:79,293,426...79,328,691
Ensembl chr15:98,583,906...98,616,407

G

leucine rich repeat containing 28

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

NCBI chr15:77,932,476...78,069,106
Ensembl chr15:97,117,104...97,250,570

G

leucine rich repeat kinase 1

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

NCBI chr15:79,642,908...79,793,990
Ensembl chr15:98,931,344...99,081,168

G

LysM domain containing 4

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

NCBI chr15:78,396,860...78,413,774
Ensembl chr15:97,590,076...97,596,035

G

myocyte enhancer factor 2A

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

NCBI chr15:78,246,439...78,396,720
Ensembl chr15:97,428,744...97,579,092

G

pyroglutamyl-peptidase I like

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

NCBI chr15:77,651,265...77,791,570
Ensembl chr15:96,836,590...96,839,587

G

synemin

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

NCBI chr15:77,790,447...77,821,317
Ensembl chr15:96,975,160...97,002,412

G

tetratricopeptide repeat domain 23

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

NCBI chr15:77,821,847...77,932,769
Ensembl chr15:97,005,675...97,116,569

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

Ensembl chr16:29,265,516...29,290,807
Ensembl chr16:29,265,516...29,290,807

G

ataxin 2 like

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

Ensembl chr16:29,209,115...29,226,239

G

CD19 molecule

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

Ensembl chr16:29,320,734...29,327,481

G

linker for activation of T cells

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

G

sulfotransferase 1A1

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

G

nuclear pore complex-interacting protein family member A7

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

G

nuclear factor of activated T cells 2 interacting protein

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

G

rabaptin, RAB GTPase binding effector protein 2

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

Ensembl chr16:29,289,949...29,314,177

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

Ensembl chr16:29,249,597...29,263,334

G

SPNS lysolipid transporter 1, lysophospholipid

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

G

Tu translation elongation factor, mitochondrial

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

Ensembl chr16:29,227,852...29,233,513

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

G

aspartate beta-hydroxylase domain containing 1

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

PMID:25741868 PMID:31690835

Ensembl chr16:30,268,390...30,273,581

G

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1

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

PMID:25741868 PMID:31690835 PMID:32238909

Ensembl chr16:29,265,516...29,290,807
Ensembl chr16:29,265,516...29,290,807

G

ataxin 2 like

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

PMID:25741868 PMID:31690835 PMID:32238909

Ensembl chr16:29,209,115...29,226,239

G

bolA family member 2B

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

G

chromosome 18 C16orf54 homolog

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

PMID:25741868 PMID:31690835

Ensembl chr16:30,117,052...30,117,726

G

chromosome 18 C16orf92 homolog

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

PMID:25741868 PMID:31690835

Ensembl chr16:30,398,743...30,399,615

G

CD19 molecule

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

PMID:25741868 PMID:31690835 PMID:32238909

Ensembl chr16:29,320,734...29,327,481

G

CDP-diacylglycerol--inositol 3-phosphatidyltransferase

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

PMID:25741868 PMID:31690835

Ensembl chr16:30,227,772...30,233,145

G

coronin 1A

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

PMID:25741868 PMID:31690835

Ensembl chr16:30,550,383...30,556,196

G

double C2 domain alpha

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

PMID:25741868 PMID:31690835

Ensembl chr16:30,378,922...30,384,142

G

glycerophosphodiester phosphodiesterase domain containing 3

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

PMID:25741868 PMID:31690835

Ensembl chr16:30,479,684...30,488,868

G

HIRA interacting protein 3

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

PMID:25741868 PMID:31690835

Ensembl chr16:30,365,725...30,369,486

G

INO80 complex subunit E

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

PMID:25741868 PMID:31690835

Ensembl chr16:30,369,610...30,379,198

G

potassium channel tetramerization domain containing 13

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

PMID:25741868 PMID:31690835

G

kinesin family member 22

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

PMID:25741868 PMID:31690835

Ensembl chr16:30,161,702...30,177,170

G

linker for activation of T cells

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

PMID:25741868 PMID:31690835 PMID:32238909

G

keratin-associated protein 10-2

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

G

pulmonary surfactant-associated protein A1

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

NCBI chr10:76,571,312...76,575,820

G

mitogen-activated protein kinase 3

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

PMID:25741868 PMID:31690835

Ensembl chr16:30,489,362...30,498,017

G

MYC associated zinc finger protein

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

PMID:25741868 PMID:31690835

Ensembl chr16:30,049,806...30,070,469

G

major vault protein

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

PMID:25741868 PMID:31690835

Ensembl chr16:30,190,090...30,219,070

G

MVP divergent transcript

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

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

G

PAXIP1 associated glutamate rich protein 1

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

PMID:25741868 PMID:31690835

Ensembl chr16:30,186,326...30,190,654

G

protein phosphatase 4 catalytic subunit

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

PMID:25741868 PMID:31690835

Ensembl chr16:30,450,467...30,464,446

G

proline rich transmembrane protein 2

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

PMID:25741868 PMID:31690835

Ensembl chr16:30,183,352...30,187,862

G

quinolinate phosphoribosyltransferase

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

PMID:25741868 PMID:31690835

Ensembl chr16:30,049,806...30,070,469

G

rabaptin, RAB GTPase binding effector protein 2

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

PMID:25741868 PMID:31690835 PMID:32238909

Ensembl chr16:29,289,949...29,314,177

G

seizure related 6 homolog like 2

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

PMID:25741868 PMID:31690835

Ensembl chr16:30,240,276...30,267,689

G

SH2B adaptor protein 1

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

PMID:25741868 PMID:31690835 PMID:32238909

Ensembl chr16:29,249,597...29,263,334

G

SLX1 homolog A, structure-specific endonuclease subunit

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

G

sialophorin

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

PMID:25741868 PMID:31690835

Ensembl chr16:30,035,243...30,036,445

G

SPNS lysolipid transporter 1, lysophospholipid

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

PMID:25741868 PMID:31690835 PMID:32238909

G

sulfotransferase family 1A member 3

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

G

TAO kinase 2

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

PMID:25741868 PMID:31690835

Ensembl chr16:30,347,229...30,366,743

G

T-box transcription factor 6

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

PMID:25741868 PMID:31690835

Ensembl chr16:30,460,305...30,467,070

G

TLC domain containing 3B

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

PMID:25741868 PMID:31690835

Ensembl chr16:30,399,815...30,406,663

G

transmembrane protein 219

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

PMID:25741868 PMID:31690835

Ensembl chr16:30,327,890...30,346,316

G

Tu translation elongation factor, mitochondrial

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

PMID:25741868 PMID:31690835 PMID:32238909

Ensembl chr16:29,227,852...29,233,513

G

yippee like 3

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

PMID:25741868 PMID:31690835

Ensembl chr16:30,467,490...30,471,256

G

zymogen granule protein 16

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

PMID:25741868 PMID:31690835

Ensembl chr16:30,149,307...30,151,579

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 chr16:16,305,281...16,385,601

G

eukaryotic elongation factor 2 kinase

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

NCBI chr16:16,443,579...16,526,061
Ensembl chr16:22,537,518...22,596,091

G

cytochrome b-c1 complex subunit 2, mitochondrial

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

NCBI chr16:16,750,102...16,780,867
Ensembl chr16:22,263,433...22,294,137

G

modulator of smoothened

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

NCBI chr16:16,645,508...16,725,434
Ensembl chr16:22,319,108...22,395,805

G

PDZ domain containing 9

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

NCBI chr16:16,731,845...16,775,963
Ensembl chr16:22,294,635...22,311,852

G

RNA polymerase III subunit E

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

NCBI chr16:16,397,988...16,434,949
Ensembl chr16:22,609,181...22,645,511

G

short chain dehydrogenase/reductase family 42E, member 2

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

NCBI chr16:16,540,166...16,569,799
Ensembl chr16:22,477,440...22,502,105

G

von Willebrand factor A domain containing 3A

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

NCBI chr16:16,575,765...16,640,697
Ensembl chr16:22,403,518...22,468,186

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 chr16:48,001,408...48,004,620
Ensembl chr16:67,390,703...67,393,685

G

chromosome 18 C16orf86 homolog

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

NCBI chr16:48,010,721...48,012,660
Ensembl chr16:67,400,057...67,401,999

G

capping protein regulator and myosin 1 linker 2

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

NCBI chr16:47,989,040...48,001,455
Ensembl chr16:67,378,353...67,390,709

G

CCCTC-binding factor

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

NCBI chr16:47,906,503...47,983,271
Ensembl chr16:67,302,952...67,372,041

G

enkurin domain containing 1

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

NCBI chr16:48,006,827...48,010,646
Ensembl chr16:67,396,162...67,399,956

G

Gfo/Idh/MocA-like oxidoreductase domain containing 2

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

NCBI chr16:48,018,181...48,067,345
Ensembl chr16:67,407,669...67,456,632

G

par-6 family cell polarity regulator alpha

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

NCBI chr16:48,004,822...48,006,656
Ensembl chr16:67,394,252...67,395,991

G

RAN binding protein 10

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

NCBI chr16:48,071,095...48,148,105
Ensembl chr16:67,460,311...67,536,892

Chromosome 17 Deletion

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KAT8 regulatory NSL complex subunit 1

CTD Direct Evidence: marker/mechanism

PMID:22544363 PMID:22544367

NCBI chr17:11,508,245...11,705,023
Ensembl chr17:11,296,318...11,456,593

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

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 chr17:25,843,447...25,869,874

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 chr17:20,027,351...20,129,255
Ensembl chr17:20,325,282...20,426,359

G

acetyl-CoA carboxylase alpha

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

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

NCBI chr17:19,670,114...19,998,903
Ensembl chr17:19,969,205...20,297,651

G

chromosome 19 C17orf78 homolog

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

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

NCBI chr17:19,690,994...19,704,223
Ensembl chr17:19,986,722...20,003,170

G

C-C motif chemokine ligand 18

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

PMID:24088041 PMID:26633545

NCBI chr17:20,723,413...20,730,633
Ensembl chr17:21,019,868...21,027,070

G

DExD-box helicase 52

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

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

NCBI chr17:19,433,036...19,466,975
Ensembl chr17:19,734,588...19,763,689

G

dehydrogenase/reductase 11

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

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

NCBI chr17:20,480,754...20,489,736
Ensembl chr17:20,776,083...20,784,789

G

dual specificity phosphatase 14

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

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

NCBI chr17:19,562,013...19,585,798
Ensembl chr17:19,862,235...19,862,831

G

gametogenetin binding protein 2

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

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

NCBI chr17:20,491,687...20,537,516
Ensembl chr17:20,786,936...20,831,055

G

HNF1 homeobox B

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

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

NCBI chr17:19,333,485...19,392,147
Ensembl chr17:19,633,424...19,691,863

G

LIM homeobox 1

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

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

NCBI chr17:20,134,308...20,140,652
Ensembl chr17:20,430,618...20,437,751

G

C-C motif chemokine 3

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

PMID:24088041 PMID:26633545

NCBI chr17:20,704,738...20,706,641
Ensembl chr17:21,000,709...21,002,610

G

C-C motif chemokine 4

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

PMID:24088041 PMID:26633545

NCBI chr17:20,689,341...20,691,921

G

mitochondrial rRNA methyltransferase 1

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

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

NCBI chr17:20,472,593...20,479,991
Ensembl chr17:20,767,988...20,775,308

G

mitochondrial ribosomal protein L45

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

PMID:24088041 PMID:26633545

NCBI chr17:18,949,525...18,974,651

G

myosin XIX

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

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

NCBI chr17:20,546,652...20,586,131
Ensembl chr17:20,840,913...20,880,242

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 chr17:20,542,694...20,547,347
Ensembl chr17:20,837,769...20,839,283

G

synergin gamma

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

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

NCBI chr17:19,467,539...19,560,618
Ensembl chr17:19,768,058...19,860,323

G

transcriptional adaptor 2A

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

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

NCBI chr17:19,595,055...19,670,090
Ensembl chr17:19,897,659...19,967,926

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 chr17:20,583,614...20,595,332
Ensembl chr17:20,878,333...20,889,078

chromosome 17q23.1-q23.2 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 2 member 1

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

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

NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143

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 chr18:1,951,279...1,999,313
Ensembl chr18:17,062,250...17,109,400

G

A-kinase anchor inhibitor 1

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

NCBI chr18:9,083,750...9,138,400

G

ankyrin repeat domain 12

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

NCBI chr18:5,002,212...5,153,112
Ensembl chr18:7,287,287...7,385,041

G

ankyrin repeat domain 62

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

NCBI chr18:2,191,716...2,231,178
Ensembl chr18:4,456,082...4,493,924

G

APC down-regulated 1

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

NCBI chr18:3,799,425...3,834,557
Ensembl chr18:6,083,649...6,117,276

G

Rho GTPase activating protein 28

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

NCBI chr18:7,366,986...7,548,782
Ensembl chr18:9,690,107...9,775,270

G

centrosomal protein 192

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

NCBI chr18:1,205,747...1,339,267
Ensembl chr18:16,327,808...16,452,575

G

centrosomal protein 76

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

NCBI chr18:1,620,954...1,650,498
Ensembl chr18:16,735,827...16,765,269

G

charged multivesicular body protein 1B

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

NCBI chr18:2,452,393...2,455,509

G

cell death inducing DFFA like effector a

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

NCBI chr18:2,051,880...2,075,909

G

DLG associated protein 1

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

NCBI chr18:9,816,171...10,781,490
Ensembl chr18:12,704,306...13,091,118

G

elastin microfibril interfacer 2

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

NCBI chr18:11,368,328...11,435,808
Ensembl chr18:13,678,772...13,743,346

G

erythrocyte membrane protein band 4.1 like 3

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

NCBI chr18:8,656,684...8,894,170
Ensembl chr18:10,993,680...11,210,416

G

family with sequence similarity 210 member A

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

NCBI chr18:598,267...657,131
Ensembl chr18:2,767,335...2,827,533

G

G protein subunit alpha L

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

NCBI chr18:2,420,578...2,615,947

G

inositol monophosphatase 2

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

NCBI chr18:2,293,788...2,344,422
Ensembl chr18:4,557,280...4,608,991

G

L3MBTL histone methyl-lysine binding protein 4

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

NCBI chr18:7,861,424...8,338,011

G

laminin subunit alpha 1

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

NCBI chr18:7,159,568...7,335,363
Ensembl chr18:9,482,895...9,656,800

G

low density lipoprotein receptor class A domain containing 4

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

NCBI chr18:669,862...1,110,558
Ensembl chr18:2,845,198...2,879,363

G

lipin 2

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

NCBI chr18:11,270,941...11,367,312
Ensembl chr18:13,608,883...13,675,165

G

leucine rich repeat containing 30

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

NCBI chr18:7,042,813...7,043,785
Ensembl chr18:9,367,147...9,368,052

G

melanocortin 2 receptor

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

NCBI chr18:409,141...442,578
Ensembl chr18:2,608,691...2,609,584

G

melanocortin 5 receptor

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

NCBI chr18:495,561...501,555
Ensembl chr18:2,668,394...2,669,371

G

metallophosphoesterase 1

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

NCBI chr18:2,397,423...2,423,209
Ensembl chr18:4,662,348...4,686,262

G

microtubule crosslinking factor 1

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

NCBI chr18:5,454,320...5,580,020
Ensembl chr18:7,737,903...7,906,958

G

myosin light chain 12B

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

NCBI chr18:10,999,849...11,016,059
Ensembl chr18:13,308,356...13,324,754

G

myomesin 1

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

NCBI chr18:11,057,733...11,215,998
Ensembl chr18:13,368,052...13,523,834

G

NSF attachment protein gamma

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

NCBI chr18:3,737,245...3,764,064
Ensembl chr18:6,020,592...6,047,429

G

NADH:ubiquinone oxidoreductase core subunit V2

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

NCBI chr18:5,154,158...5,186,088
Ensembl chr18:7,433,167...7,464,884

G

piezo type mechanosensitive ion channel component 2

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

NCBI chr18:3,141,285...3,619,885
Ensembl chr18:5,407,467...5,882,928

G

protein phosphatase 4 regulatory subunit 1

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

NCBI chr18:4,671,010...4,742,301
Ensembl chr18:6,974,934...7,022,996

G

PRELI domain containing 3A

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

NCBI chr18:1,895,635...1,920,455
Ensembl chr18:17,006,556...17,021,984

G

proteasome assembly chaperone 2

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

NCBI chr18:1,597,981...1,620,721
Ensembl chr18:16,713,534...16,735,531

G

protein tyrosine phosphatase non-receptor type 2

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

NCBI chr18:1,440,837...1,538,501
Ensembl chr18:16,562,052...16,659,570

G

protein tyrosine phosphatase receptor type M

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

NCBI chr18:5,879,556...6,706,824
Ensembl chr18:8,206,677...9,030,286

G

RAB12, member RAS oncogene family

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

NCBI chr18:5,646,023...5,675,920
Ensembl chr18:7,972,938...8,027,500

G

RAB31, member RAS oncogene family

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

NCBI chr18:4,424,677...4,578,263
Ensembl chr18:6,710,174...6,859,896

G

ralA binding protein 1

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

NCBI chr18:4,747,555...4,810,710
Ensembl chr18:7,028,188...7,090,934

G

RNA guanine-7 methyltransferase

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

NCBI chr18:560,744...598,216
Ensembl chr18:2,729,921...2,767,279

G

SEH1 like nucleoporin

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

NCBI chr18:1,342,928...1,379,719
Ensembl chr18:16,464,446...16,500,693

G

structural maintenance of chromosomes flexible hinge domain containing 1

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

NCBI chr18:11,479,742...11,627,035
Ensembl chr18:13,785,912...13,933,887

G

spire type actin nucleation factor 1

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

NCBI chr18:1,663,614...1,881,357
Ensembl chr18:16,800,870...16,992,959

G

TGFB induced factor homeobox 1

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

NCBI chr18:10,819,015...10,830,282
Ensembl chr18:13,128,359...13,139,145

G

transmembrane protein 200C

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

NCBI chr18:8,396,671...8,410,608
Ensembl chr18:10,718,658...10,720,521

G

tubulin beta 6 class V

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

NCBI chr18:1,998,428...2,020,202

G

twisted gastrulation BMP signaling modulator 1

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

NCBI chr18:4,883,688...4,950,963
Ensembl chr18:7,164,091...7,229,271

G

thioredoxin domain containing 2

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

NCBI chr18:4,397,565...4,401,236

G

VAMP associated protein A

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

NCBI chr18:4,329,479...4,373,047
Ensembl chr18:6,612,105...6,637,829

G

zinc finger and BTB domain containing 14

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

NCBI chr18:8,986,957...8,996,065
Ensembl chr18:11,303,612...11,309,749

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 chr18:73,757,926...73,789,771
Ensembl chr18:77,080,441...77,103,098

G

ankyrin repeat domain 29

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

NCBI chr18:16,850,341...16,914,767
Ensembl chr18:20,475,728...20,539,300

G

aquaporin 4

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

NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919

G

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

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

NCBI chr18:39,615,759...39,742,492
Ensembl chr18:43,244,066...43,274,212

G

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

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

NCBI chr18:39,455,256...39,548,926
Ensembl chr18:42,990,152...43,082,789

G

ASXL transcriptional regulator 3

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

NCBI chr18:26,781,382...26,953,935
Ensembl chr18:30,403,018...30,541,651

G

ATP synthase F1 subunit alpha

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

NCBI chr18:39,366,384...39,380,514
Ensembl chr18:42,904,136...42,923,326

G

ATPase phospholipid transporting 9B (putative)

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

PMID:25741868 PMID:31690835

NCBI chr18:72,468,421...72,847,314
Ensembl chr18:75,686,430...75,988,106

G

beta-1,4-galactosyltransferase 6

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

NCBI chr18:24,840,106...24,906,309
Ensembl chr18:28,438,302...28,500,946

G

BCL2 apoptosis regulator

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

PMID:25741868 PMID:31690835

NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100

G

chromosome 17 C18orf21 homolog

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

NCBI chr18:29,224,549...29,231,544
Ensembl chr18:32,782,908...32,789,866

G

chromosome 17 C18orf63 homolog

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

PMID:25741868 PMID:31690835

NCBI chr18:67,700,930...67,741,493
Ensembl chr18:70,981,368...71,024,698

G

calcium binding tyrosine phosphorylation regulated

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

NCBI chr18:17,391,217...17,414,683
Ensembl chr18:21,014,584...21,037,082

G

cerebellin 2 precursor

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

PMID:25741868 PMID:31690835

NCBI chr18:65,906,154...66,010,195

G

coiled-coil domain containing 102B

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

PMID:25741868 PMID:31690835

NCBI chr18:62,113,486...62,539,281
Ensembl chr18:65,409,714...65,771,415

G

coiled-coil domain containing 178

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

NCBI chr18:26,140,067...26,643,526
Ensembl chr18:29,733,237...30,206,721

G

CD226 molecule

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

PMID:25741868 PMID:31690835

NCBI chr18:63,238,477...63,379,346
Ensembl chr18:66,533,949...66,627,580

G

cadherin 19

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

PMID:25741868 PMID:31690835

NCBI chr18:59,852,350...59,954,744
Ensembl chr18:63,156,263...63,258,767

G

cadherin 2

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

NCBI chr18:21,210,001...21,435,919
Ensembl chr18:24,812,019...25,008,325

G

cadherin 20

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

PMID:25741868 PMID:31690835

NCBI chr18:54,706,558...54,928,744
Ensembl chr18:58,028,533...58,250,790

G

cadherin 7

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

PMID:25741868 PMID:31690835

NCBI chr18:59,104,931...59,244,999
Ensembl chr18:62,413,715...62,543,844

G

CUGBP Elav-like family member 4

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

NCBI chr18:30,495,149...30,818,358
Ensembl chr18:34,068,123...34,374,372

G

carbohydrate sulfotransferase 9

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

NCBI chr18:20,173,750...20,443,360
Ensembl chr18:23,777,767...24,048,513

G

carnosine dipeptidase 1

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

PMID:25741868 PMID:31690835

NCBI chr18:67,920,453...67,982,843
Ensembl chr18:71,162,331...71,188,879
Ensembl chr18:71,162,331...71,188,879

G

carnosine dipeptidase 2

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

PMID:25741868 PMID:31690835

NCBI chr18:67,882,189...67,907,094
Ensembl chr18:71,162,331...71,188,879

G

CTD phosphatase subunit 1

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

PMID:25741868 PMID:31690835

NCBI chr18:73,279,510...73,357,718
Ensembl chr18:76,646,641...76,722,573

G

cap binding complex dependent translation initiation factor

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

NCBI chr18:41,923,292...42,251,321
Ensembl chr18:45,358,282...45,604,625

G

divergent protein kinase domain 1C

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

PMID:25741868 PMID:31690835

NCBI chr18:67,820,362...67,843,515
Ensembl chr18:71,102,421...71,123,802

G

docking protein 6

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

PMID:25741868 PMID:31690835

NCBI chr18:62,785,687...63,227,505
Ensembl chr18:66,236,817...66,512,229

G

desmocollin 1

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

NCBI chr18:24,358,116...24,393,604
Ensembl chr18:27,955,717...27,990,818

G

desmocollin 2

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

NCBI chr18:24,296,505...24,332,997
Ensembl chr18:27,894,603...27,930,843

G

desmocollin 3

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

NCBI chr18:24,220,429...24,273,547
Ensembl chr18:27,817,639...27,871,602

G

dermatan sulfate epimerase like

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

PMID:25741868 PMID:31690835

NCBI chr18:60,880,241...60,890,372

G

desmoglein 1

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

NCBI chr18:24,543,061...24,579,085
Ensembl chr18:28,078,131...28,175,803

G

desmoglein 2

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

NCBI chr18:24,716,181...24,766,837
Ensembl chr18:28,313,223...28,363,786

G

desmoglein 3

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

NCBI chr18:24,664,969...24,695,271
Ensembl chr18:28,262,860...28,293,879

G

desmoglein 4

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

NCBI chr18:24,595,021...24,633,182
Ensembl chr18:28,192,145...28,230,358

G

dystrobrevin alpha

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

NCBI chr18:27,706,576...28,116,328
Ensembl chr18:31,524,255...31,705,386

G

dymeclin

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

NCBI chr18:42,427,493...42,842,450
Ensembl chr18:45,783,379...46,162,835

G

elongin A2

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

NCBI chr18:40,418,709...40,422,812

G

elongator acetyltransferase complex subunit 2

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

NCBI chr18:29,382,531...29,428,212
Ensembl chr18:32,941,122...32,986,191

G

ectopic P-granules 5 autophagy tethering factor

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

NCBI chr18:39,129,678...39,250,418
Ensembl chr18:42,669,223...42,788,788

G

F-box protein 15

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

PMID:25741868 PMID:31690835

NCBI chr18:67,455,924...67,529,959
Ensembl chr18:70,740,443...70,814,441

G

formin homology 2 domain containing 3

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

NCBI chr18:29,550,049...30,033,130
Ensembl chr18:33,165,819...33,590,154

G

polypeptide N-acetylgalactosaminyltransferase 1

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

NCBI chr18:28,872,609...28,958,517
Ensembl chr18:32,460,262...32,517,154

G

galanin receptor 1

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

PMID:25741868 PMID:31690835

NCBI chr18:70,643,718...70,664,068
Ensembl chr18:73,899,995...73,917,752

G

GRB2 associated regulator of MAPK1 subtype 1

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

NCBI chr18:25,470,702...25,678,146
Ensembl chr18:29,065,053...29,272,231

G

HAUS augmin like complex subunit 1

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

NCBI chr18:39,386,522...39,409,747
Ensembl chr18:42,922,570...42,945,766

G

haloacid dehalogenase like hydrolase domain containing 2

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

NCBI chr18:40,495,385...40,538,527
Ensembl chr18:43,855,696...43,898,765

G

histocompatibility minor serpin domain containing

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

PMID:25741868 PMID:31690835

NCBI chr18:57,306,835...57,315,231

G

histamine receptor H4

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

NCBI chr18:17,711,852...17,731,500
Ensembl chr18:21,332,651...21,351,930

G

heat shock factor binding protein 1 like 1

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

PMID:25741868 PMID:31690835

NCBI chr18:73,608,483...73,615,823

G

immediate early response 3 interacting protein 1

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

NCBI chr18:40,543,039...40,564,372
Ensembl chr18:43,903,315...43,924,901

G

impact RWD domain protein

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

NCBI chr18:17,678,297...17,720,348
Ensembl chr18:21,299,213...21,322,868

G

INO80 complex subunit C

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

NCBI chr18:28,686,112...28,715,946
Ensembl chr18:32,260,924...32,304,152

G

katanin catalytic subunit A1 like 2

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

NCBI chr18:40,196,170...40,492,175
Ensembl chr18:43,758,249...43,850,517

G

potassium voltage-gated channel modifier subfamily G member 2

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

PMID:25741868 PMID:31690835

NCBI chr18:73,431,735...73,546,602

G

potassium channel tetramerization domain containing 1

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

NCBI chr18:19,711,846...19,914,897

G

3-ketodihydrosphingosine reductase

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

PMID:25741868 PMID:31690835

NCBI chr18:56,686,914...56,727,681
Ensembl chr18:60,001,637...60,036,292

G

KIAA1328 ortholog

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

NCBI chr18:30,081,706...30,477,445
Ensembl chr18:33,639,535...34,031,582

G

kelch like family member 14

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

NCBI chr18:25,880,582...26,003,452
Ensembl chr18:29,476,607...29,572,911

G

laminin subunit alpha 3

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

NCBI chr18:16,941,316...17,208,363
Ensembl chr18:20,565,649...20,831,957

G

cytochrome b5

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

PMID:25741868 PMID:31690835

NCBI chr18:67,638,406...67,677,111
Ensembl chr18:70,919,617...70,957,732

G

lipoxygenase homology PLAT domains 1

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

NCBI chr18:39,756,531...39,936,317
Ensembl chr18:43,290,579...43,469,921

G

microtubule associated protein RP/EB family member 2

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

NCBI chr18:28,201,711...28,367,813
Ensembl chr18:31,817,015...31,956,771

G

myelin basic protein

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

PMID:25741868 PMID:31690835

NCBI chr18:70,369,882...70,526,693
Ensembl chr18:73,629,522...73,755,351

G

melanocortin 4 receptor

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

NCBI chr18:53,744,172...53,747,282
Ensembl chr18:57,069,259...57,070,257

G

meprin A subunit beta

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

NCBI chr18:25,396,288...25,427,530
Ensembl chr18:28,991,439...29,021,928

G

molybdenum cofactor sulfurase

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

NCBI chr18:29,440,016...29,542,105
Ensembl chr18:32,998,769...33,080,053

G

neuropilin and tolloid like 1

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

PMID:25741868 PMID:31690835

NCBI chr18:66,114,425...66,240,141
Ensembl chr18:69,408,116...69,527,333

G

nuclear factor of activated T cells 1

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

PMID:25741868 PMID:31690835

NCBI chr18:72,948,067...73,083,180
Ensembl chr18:76,017,454...76,094,453

G

nucleolar protein 4

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

NCBI chr18:27,054,678...27,435,085
Ensembl chr18:30,646,179...31,026,620

G

oxysterol binding protein like 1A

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

NCBI chr18:17,414,824...17,669,178
Ensembl chr18:21,037,586...21,270,216

G

par-6 family cell polarity regulator gamma

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

PMID:25741868 PMID:31690835

NCBI chr18:73,806,710...73,904,494
Ensembl chr18:77,122,483...77,167,659

G

PH domain and leucine rich repeat protein phosphatase 1

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

PMID:25741868 PMID:31690835

NCBI chr18:56,084,851...56,338,551

G

protein inhibitor of activated STAT 2

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

NCBI chr18:40,067,901...40,196,078
Ensembl chr18:43,622,455...43,728,675

G

phosphatidylinositol glycan anchor biosynthesis class N

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

PMID:25741868 PMID:31690835

NCBI chr18:55,415,182...55,557,092
Ensembl chr18:58,733,740...58,875,183

G

phosphatidylinositol 3-kinase catalytic subunit type 3

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

NCBI chr18:35,203,896...35,336,512
Ensembl chr18:38,754,789...38,882,037

G

proteasome 20S subunit alpha 8

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

NCBI chr18:19,391,216...19,447,259
Ensembl chr18:23,000,562...23,057,399

G

proline-serine-threonine phosphatase interacting protein 2

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

NCBI chr18:39,265,559...39,364,422
Ensembl chr18:42,804,773...42,892,493

G

prostaglandin reductase 3

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

PMID:25741868 PMID:31690835

NCBI chr18:68,584,392...68,596,230
Ensembl chr18:71,859,470...71,870,919

G

ribosome binding factor A

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

PMID:25741868 PMID:31690835

NCBI chr18:73,679,972...73,696,321
Ensembl chr18:76,997,888...77,013,864

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 chr18:55,557,276...55,677,161
Ensembl chr18:58,875,013...58,995,036

G

Ras like without CAAX 2

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

NCBI chr18:36,008,302...36,381,259
Ensembl chr18:39,557,814...39,930,393

G

ring finger protein 125

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

NCBI chr18:25,227,353...25,297,186
Ensembl chr18:28,824,183...28,873,068

G

ring finger protein 138

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

NCBI chr18:25,300,480...25,340,010

G

ring finger protein 152

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

PMID:25741868 PMID:31690835

NCBI chr18:55,180,955...55,264,164
Ensembl chr18:58,507,684...58,508,295

G

regulation of nuclear pre-mRNA domain containing 1A

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

NCBI chr18:29,242,080...29,320,372
Ensembl chr18:32,800,352...32,878,544

G

rotatin

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

PMID:25741868 PMID:31690835

NCBI chr18:63,381,953...63,584,937
Ensembl chr18:66,674,597...66,874,104

G

spalt like transcription factor 3

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

PMID:25741868 PMID:31690835

NCBI chr18:72,381,249...72,403,789

G

serpin family B member 10

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

PMID:25741868 PMID:31690835

NCBI chr18:57,262,514...57,289,744
Ensembl chr18:60,573,580...60,599,697

G

serpin family B member 11

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

PMID:25741868 PMID:31690835

NCBI chr18:57,061,477...57,083,031
Ensembl chr18:60,373,142...60,394,132

G

serpin family B member 12

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

PMID:25741868 PMID:31690835

NCBI chr18:56,915,588...56,926,603
Ensembl chr18:60,190,661...60,240,704

G

serpin family B member 13

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

PMID:25741868 PMID:31690835

NCBI chr18:56,946,828...56,958,702
Ensembl chr18:60,258,085...60,270,607

G

serpin family B member 2

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

PMID:25741868 PMID:31690835

NCBI chr18:57,242,498...57,258,676
Ensembl chr18:60,553,323...60,569,594

G

serpin family B member 4

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

PMID:25741868 PMID:31690835

NCBI chr18:56,996,437...57,003,489

G

serpin family B member 5

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

PMID:25741868 PMID:31690835

NCBI chr18:56,836,403...56,864,533
Ensembl chr18:60,148,552...60,176,624

G

serpin family B member 7

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

PMID:25741868 PMID:31690835

NCBI chr18:57,112,242...57,164,213
Ensembl chr18:60,445,135...60,475,165

G

serpin family B member 8

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

PMID:25741868 PMID:31690835

NCBI chr18:57,313,562...57,373,502
Ensembl chr18:60,634,206...60,669,118

G

SET binding protein 1

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

NCBI chr18:37,963,089...38,350,092
Ensembl chr18:41,524,998...41,885,453

G

sialic acid binding Ig like lectin 15

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

NCBI chr18:39,111,697...39,125,631
Ensembl chr18:42,658,534...42,663,773

G

SKI family transcriptional corepressor 2

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

NCBI chr18:40,594,124...40,639,720

G

solute carrier family 14 member 1 (Kidd blood group)

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

NCBI chr18:39,007,475...39,035,489
Ensembl chr18:42,550,210...42,575,723

G

solute carrier family 14 member 2

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

NCBI chr18:38,766,994...38,966,124
Ensembl chr18:42,448,067...42,506,485

G

solute carrier family 25 member 52

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

NCBI chr18:24,977,278...24,978,720
Ensembl chr18:28,575,026...28,575,948

G

solute carrier family 39 member 6

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

NCBI chr18:29,361,261...29,382,115
Ensembl chr18:32,919,878...32,940,694

G

solute carrier family 66 member 2

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

PMID:25741868 PMID:31690835

NCBI chr18:73,549,273...73,596,658
Ensembl chr18:76,869,584...76,915,363

G

SMAD family member 2

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

NCBI chr18:41,213,001...41,309,902
Ensembl chr18:44,580,905...44,668,530

G

SMAD family member 7

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

NCBI chr18:42,306,324...42,337,214

G

small integral membrane protein 21

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

PMID:25741868 PMID:31690835

NCBI chr18:68,795,702...68,815,275

G

suppressor of cytokine signaling 6

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

PMID:25741868 PMID:31690835

NCBI chr18:63,666,761...63,710,085
Ensembl chr18:66,994,489...66,996,096

G

SS18 subunit of BAF chromatin remodeling complex

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

NCBI chr18:19,274,395...19,349,311
Ensembl chr18:22,883,522...22,957,996

G

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5

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

NCBI chr18:39,958,239...40,036,282
Ensembl chr18:43,492,025...43,569,857

G

synaptotagmin 4

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

NCBI chr18:36,540,756...36,550,439
Ensembl chr18:40,089,938...40,099,721

G

TATA-box binding protein associated factor 4b

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

NCBI chr18:19,480,844...19,648,936
Ensembl chr18:23,089,736...23,254,518

G

translocase of inner mitochondrial membrane 21

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

PMID:25741868 PMID:31690835

NCBI chr18:67,530,610...67,540,966
Ensembl chr18:70,815,069...70,825,436

G

thioredoxin related transmembrane protein 3

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

PMID:25741868 PMID:31690835

NCBI chr18:62,072,290...62,113,574
Ensembl chr18:65,368,718...65,409,664

G

TNF receptor superfamily member 11a

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

PMID:25741868 PMID:31690835

NCBI chr18:55,695,394...55,761,307
Ensembl chr18:59,034,770...59,075,044

G

tubulin polyglutamylase complex subunit 2

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

NCBI chr18:30,039,892...30,082,047
Ensembl chr18:33,590,771...33,639,528

G

trafficking protein particle complex subunit 8

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

NCBI chr18:25,047,609...25,154,635
Ensembl chr18:28,636,626...28,751,149

G

teashirt zinc finger homeobox 1

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

PMID:25741868 PMID:31690835

NCBI chr18:68,597,354...68,676,462
Ensembl chr18:71,873,594...71,951,654

G

tetratricopeptide repeat domain 39C

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

NCBI chr18:17,267,608...17,388,826
Ensembl chr18:20,891,500...21,011,248

G

transthyretin

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

NCBI chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960

G

thioredoxin like 4A

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

PMID:25741868 PMID:31690835

NCBI chr18:73,618,302...73,679,603
Ensembl chr18:76,937,460...76,952,428

G

vacuolar protein sorting 4 homolog B

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

PMID:25741868 PMID:31690835

NCBI chr18:56,749,439...56,782,660
Ensembl chr18:60,060,285...60,095,109

G

zinc finger and BTB domain containing 7C

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

NCBI chr18:41,406,515...41,792,391
Ensembl chr18:44,766,698...44,778,501

G

ZBTB7C antisense RNA 2

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

NCBI chr18:41,631,695...41,632,619

G

zinc finger CCHC-type containing 2

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

PMID:25741868 PMID:31690835

NCBI chr18:55,893,099...55,948,648
Ensembl chr18:59,209,993...59,265,634

G

zinc finger protein 236

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

PMID:25741868 PMID:31690835

NCBI chr18:70,213,383...70,361,741
Ensembl chr18:73,496,761...73,617,956

G

zinc finger protein 24

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

NCBI chr18:28,551,197...28,563,351
Ensembl chr18:32,144,853...32,152,242

G

zinc finger protein 396

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

NCBI chr18:28,586,022...28,595,600
Ensembl chr18:32,173,881...32,184,196

G

zinc finger protein 397

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

NCBI chr18:28,459,065...28,467,907
Ensembl chr18:32,048,338...32,054,047

G

zinc finger protein 407

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

PMID:25741868 PMID:31690835

NCBI chr18:67,985,750...68,451,774

G

zinc finger protein 516

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

PMID:25741868 PMID:31690835

NCBI chr18:69,748,472...69,891,026
Ensembl chr18:73,026,076...73,103,609

G

ZNF516 divergent transcript

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

NCBI chr18:69,890,183...69,892,640

G

zinc finger protein 521

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

NCBI chr18:18,319,311...18,611,564
Ensembl chr18:22,062,675...22,220,607

G

zinc finger and SCAN domain containing 30

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

NCBI chr18:28,469,523...28,509,063
Ensembl chr18:32,058,375...32,074,965

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 chr19:31,382,856...31,424,252
Ensembl chr19:40,110,049...40,149,742

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 1:11,468,087...11,480,718

G

arylacetamide deacetylase like 4

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:11,396,544...11,419,064

G

ArfGAP with coiled-coil, ankyrin repeat and PH domains 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:46,883...62,642
Ensembl chr 1:1,249,719...1,259,645

G

acyl-CoA thioesterase 7

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:5,030,488...5,154,800

G

actin like 8

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:16,704,097...16,775,712
Ensembl chr 1:17,823,641...17,827,699

G

actin related protein T2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:1,680,590...1,682,020
Ensembl chr 1:2,818,917...2,820,050

G

agmatinase (putative)

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:14,711,891...14,723,546
Ensembl chr 1:15,704,989...15,717,428

G

agrin

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

Ensembl chr 1:936,000...966,808

G

angiotensin II receptor associated protein

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:10,498,245...10,512,906
Ensembl chr 1:11,715,672...11,730,326

G

adherens junctions associated protein 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:3,340,904...3,482,242
Ensembl chr 1:4,505,143...4,590,779

G

aldo-keto reductase family 7 member A3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:18,241,298...18,248,142
Ensembl chr 1:19,288,100...19,294,041

G

aldehyde dehydrogenase 4 family member A1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:17,829,723...17,861,008
Ensembl chr 1:18,878,421...18,909,615

G

angiopoietin like 7

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:9,955,033...9,961,886
Ensembl chr 1:11,176,355...11,183,048

G

ankyrin repeat domain 65

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:174,353...177,846

G

Rho guanine nucleotide exchange factor 10 like

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:16,486,514...16,644,724
Ensembl chr 1:17,580,389...17,697,195

G

Rho guanine nucleotide exchange factor 16

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:2,121,058...2,148,391
Ensembl chr 1:3,258,664...3,275,809

G

Rho guanine nucleotide exchange factor 19

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:15,334,564...15,354,061
Ensembl chr 1:16,327,135...16,342,009

G

ATPase family AAA domain containing 3C

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:209,176...227,683
Ensembl chr 1:1,407,391...1,425,563

G

ATPase cation transporting 13A2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:15,929,613...15,955,631
Ensembl chr 1:16,986,385...17,006,033
Ensembl chr 1:16,986,385...17,006,033

G

aurora kinase A interacting protein 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:129,234...130,866
Ensembl chr 1:1,329,414...1,331,203

G

beta-1,3-galactosyltransferase 6

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

G

chromosome 1 C1orf159 homolog

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

Ensembl chr 1:997,350...1,034,180

G

chromosome 1 C1orf167 homolog

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:10,524,980...10,551,759
Ensembl chr 1:11,741,083...11,769,155

G

chromosome 1 C1orf174 homolog

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:2,563,184...2,574,235
Ensembl chr 1:3,682,181...3,692,637

G

C1q and TNF related 12

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

Ensembl chr 1:1,200,756...1,205,301

G

carbonic anhydrase 6

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:7,703,187...7,732,409
Ensembl chr 1:8,938,164...8,966,300

G

calmodulin like 6

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:619,689...623,308
Ensembl chr 1:1,778,101...1,780,581

G

calmodulin binding transcription activator 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:5,549,742...6,532,568
Ensembl chr 1:6,824,687...7,781,265

G

capping actin protein of muscle Z-line subunit beta

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:18,297,434...18,444,011
Ensembl chr 1:19,344,154...19,488,133

G

caspase 9

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266

G

castor zinc finger 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:9,396,936...9,557,100
Ensembl chr 1:10,622,519...10,677,091

G

coiled-coil domain containing 27

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:2,423,607...2,443,033
Ensembl chr 1:3,544,974...3,564,999

G

cyclin L2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:142,530...155,377
Ensembl chr 1:1,344,346...1,355,361

G

cyclin dependent kinase 11B

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:399,997...423,094
Ensembl chr 1:1,558,423...1,579,305

G

centromere protein S

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:9,190,303...9,211,812

G

centrosomal protein 104

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:2,485,711...2,529,745
Ensembl chr 1:3,606,659...3,648,832

G

cilia and flagella associated protein 107

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:11,498,043...11,513,576
Ensembl chr 1:12,711,179...12,726,105

G

cilia and flagella associated protein 74

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:627,950...715,982
Ensembl chr 1:1,785,550...1,856,062

G

chromodomain helicase DNA binding protein 5

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:4,867,636...4,947,401
Ensembl chr 1:6,125,525...6,191,991

G

ciliated left-right organizer protein containing ZP-N domains

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:9,707,483...9,725,888
Ensembl chr 1:10,929,614...10,966,254

G

chloride voltage-gated channel 6

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:10,568,222...10,605,459
Ensembl chr 1:11,785,643...11,822,505

G

chloride voltage-gated channel Kb

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:15,180,858...15,194,757
Ensembl chr 1:16,174,570...16,188,166

G

calsyntenin 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:8,495,571...8,591,613
Ensembl chr 1:9,724,743...9,774,760

G

cortistatin

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:9,210,186...9,212,201

G

ciliogenesis and planar polarity effector complex subunit 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:15,368,318...15,373,815
Ensembl chr 1:16,362,655...16,368,063

G

ceramide-1-phosphate transfer protein

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:81,942...86,035
Ensembl chr 1:1,281,979...1,285,620

G

ciliary rootlet coiled-coil, rootletin

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:15,857,442...15,916,674
Ensembl chr 1:16,923,823...16,973,479

G

catenin beta interacting protein 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

Ensembl chr 1:9,846,511...9,882,049

G

chymotrypsin C

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:14,576,496...14,588,143
Ensembl chr 1:15,571,771...15,580,000

G

DNA damage inducible 1 homolog 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:14,757,327...14,810,959
Ensembl chr 1:15,749,497...15,790,263
Ensembl chr 1:15,749,497...15,790,263

G

DNA fragmentation factor subunit alpha

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:9,221,096...9,232,813
Ensembl chr 1:10,445,553...10,457,547

G

DNA fragmentation factor subunit beta

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:2,529,733...2,559,490
Ensembl chr 1:3,649,729...3,676,896

G

dehydrogenase/reductase 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:11,319,109...11,370,463
Ensembl chr 1:12,533,696...12,584,381

G

dispatched RND transporter family member 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:10,241,808...10,298,163
Ensembl chr 1:11,460,541...11,516,410

G

DnaJ heat shock protein family (Hsp40) member C11

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:5,398,198...5,464,738
Ensembl chr 1:6,649,908...6,716,755

G

DnaJ heat shock protein family (Hsp40) member C16

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:14,664,286...14,710,171
Ensembl chr 1:15,659,107...15,707,329

G

dorsal inhibitory axon guidance protein

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:10,453,708...10,488,391
Ensembl chr 1:11,670,651...11,700,012

G

dishevelled segment polarity protein 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:92,469...106,748
Ensembl chr 1:1,292,052...1,301,008

G

EF-hand domain family member D2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:14,548,253...14,568,784
Ensembl chr 1:15,542,609...15,562,063

G

ER membrane protein complex subunit 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:18,176,791...18,210,280
Ensembl chr 1:19,223,355...19,257,835

G

enolase 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:7,619,490...7,637,558
Ensembl chr 1:8,855,074...8,873,215

G

EPH receptor A2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:15,259,915...15,292,983
Ensembl chr 1:16,253,513...16,284,787

G

ERBB receptor feedback inhibitor 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:6,771,619...6,786,217
Ensembl chr 1:8,011,848...8,033,674

G

espin

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:5,184,666...5,222,473

G

exosome component 10

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:9,829,922...9,865,092
Ensembl chr 1:11,050,727...11,087,241

G

FA core complex associated protein 20

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:900,616...922,845

G

family with sequence similarity 131 member C

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:15,195,111...15,211,000

G

filamin binding LIM protein 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:14,898,987...14,928,887
Ensembl chr 1:15,890,600...15,921,558

G

F-box protein 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:10,408,853...10,415,174
Ensembl chr 1:11,626,713...11,633,171

G

F-box protein 42

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:15,383,505...15,489,800
Ensembl chr 1:16,375,319...16,481,012

G

F-box protein 44

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

Ensembl chr 1:11,632,768...11,640,846

G

F-box protein 6

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:10,414,856...10,436,406
Ensembl chr 1:11,643,009...11,654,837
Ensembl chr 1:11,643,009...11,654,837
Ensembl chr 1:11,643,009...11,654,837

G

forkhead associated phosphopeptide binding domain 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:14,374,663...14,538,696
Ensembl chr 1:15,403,965...15,529,961

G

fibronectin type III domain containing 10

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:359,080...361,223

G

gamma-aminobutyric acid type A receptor subunit delta

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:731,714...743,165
Ensembl chr 1:1,883,955...1,895,102

G

G protein subunit beta 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614

G

G protein-coupled receptor 153

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:5,013,643...5,027,324

G

G protein-coupled receptor 157

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:7,857,904...7,884,669
Ensembl chr 1:9,093,493...9,117,748

G

hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:7,996,315...8,031,987
Ensembl chr 1:9,232,666...9,256,631

G

hes family bHLH transcription factor 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:5,175,124...5,179,785
Ensembl chr 1:6,429,281...6,435,896

G

hes family bHLH transcription factor 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:5,008,155...5,012,868
Ensembl chr 1:6,265,738...6,266,937

G

hes family bHLH transcription factor 4

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

G

hes family bHLH transcription factor 5

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:1,261,260...1,263,128

G

heterogeneous nuclear ribonucleoprotein C like 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

G

heat shock protein family B (small) member 7

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:15,151,471...15,156,234

G

5-hydroxytryptamine receptor 6

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:18,619,683...18,635,822
Ensembl chr 1:19,662,978...19,678,680

G

isoprenylcysteine carboxyl methyltransferase

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:4,987,384...5,002,213
Ensembl chr 1:6,246,570...6,258,746

G

intermediate filament family orphan 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:17,862,556...17,914,686

G

immunoglobin superfamily member 21

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:17,063,522...17,336,389
Ensembl chr 1:18,116,451...18,387,611

G

integrator complex subunit 11

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:66,280...81,854
Ensembl chr 1:1,266,581...1,281,430

G

ISG15 ubiquitin like modifier

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

Ensembl chr 1:927,418...928,491

G

kazrin, periplakin interacting protein

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:13,032,125...14,261,897
Ensembl chr 1:14,031,858...15,251,972

G

potassium voltage-gated channel subfamily A regulatory beta subunit 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:4,755,412...4,866,424
Ensembl chr 1:6,013,072...6,120,438

G

KIAA2013 ortholog

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:10,669,585...10,676,372

G

kinesin family member 1B

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:8,969,910...9,141,964
Ensembl chr 1:10,198,997...10,364,577
Ensembl chr 1:10,198,997...10,364,577

G

kelch domain containing 7A

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:17,439,890...17,444,993
Ensembl chr 1:18,490,964...18,493,297

G

kelch like family member 17

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

Ensembl chr 1:859,730...864,476

G

kelch like family member 21

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:5,352,020...5,364,268
Ensembl chr 1:6,604,801...6,616,890

G

ATPase family AAA domain-containing protein 3B

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:230,464...269,069

G

multiple epidermal growth factor-like domains protein 6

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:2,155,295...2,283,034

G

aflatoxin B1 aldehyde reductase member 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:18,262,631...18,270,783
Ensembl chr 1:19,309,471...19,317,227

G

chloride channel protein ClC-Ka

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:15,159,362...15,171,376
Ensembl chr 1:16,152,022...16,163,777

G

chymotrypsin-like elastase family member 2A

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:14,595,218...14,606,322
Ensembl chr 1:15,589,878...15,604,926

G

leucine rich repeat containing 38

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:12,618,480...12,657,328
Ensembl chr 1:13,619,399...13,657,771

G

leucine rich repeat containing 47

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:2,451,747...2,468,043

G

leucine zipper and CTNNBIP1 domain containing

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:8,698,579...8,712,867
Ensembl chr 1:9,928,998...9,942,490

G

mitotic arrest deficient 2 like 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:10,436,532...10,454,023
Ensembl chr 1:11,654,963...11,661,526

G

MBL associated serine protease 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:9,787,565...9,810,276
Ensembl chr 1:11,009,760...11,030,734

G

microfibril associated protein 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:15,918,209...15,924,388
Ensembl chr 1:16,975,544...17,006,022

G

mitofusin 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077

G

MIB E3 ubiquitin protein ligase 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:379,326...395,041
Ensembl chr 1:1,539,634...1,557,517

G

mitochondrial contact site and cristae organizing system subunit 10

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:18,551,929...18,581,619
Ensembl chr 1:19,595,697...19,628,258

G

migration and invasion inhibitory protein

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:10,770,412...10,783,414
Ensembl chr 1:11,986,808...11,999,330

G

membrane metalloendopeptidase like 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:1,323,914...1,362,178
Ensembl chr 1:2,462,621...2,504,213

G

matrix metallopeptidase 23B

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:396,629...399,103
Ensembl chr 1:1,554,922...1,557,325

G

MORN repeat containing 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:1,040,735...1,109,847
Ensembl chr 1:2,185,815...2,257,031

G

mitochondrial ribosomal protein L20

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:157,984...163,411
Ensembl chr 1:1,358,009...1,363,014

G

MRT4 homolog, ribosome maturation factor

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:18,210,403...18,218,800
Ensembl chr 1:19,257,147...19,265,038

G

methylenetetrahydrofolate reductase

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

mechanistic target of rapamycin kinase

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841

G

matrix remodeling associated 8

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:109,071...117,378

G

NAD kinase

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:462,860...485,203
Ensembl chr 1:1,619,270...1,642,269

G

NBL1, DAN family BMP antagonist

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:18,599,121...18,613,305
Ensembl chr 1:19,641,279...19,656,431

G

NBPF member 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:15,768,266...15,784,169

G

NECAP endocytosis associated 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:15,578,444...15,597,823
Ensembl chr 1:16,568,847...16,588,213

G

nicotinamide nucleotide adenylyltransferase 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:8,712,798...8,753,027
Ensembl chr 1:9,942,491...9,982,364

G

NOC2 like nucleolar associated transcriptional repressor

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

Ensembl chr 1:843,551...857,535

G

nucleolar protein 9

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:5,283,518...5,317,431
Ensembl chr 1:6,541,712...6,571,463

G

nephrocystin 4

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:4,620,593...4,756,363
Ensembl chr 1:5,878,739...6,012,864

G

natriuretic peptide A

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373

G

natriuretic peptide B

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995

G

OTU deubiquitinase 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:18,836,697...18,867,568
Ensembl chr 1:19,880,667...19,905,857

G

peptidyl arginine deiminase 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:16,150,407...16,190,901
Ensembl chr 1:17,205,452...17,245,972

G

peptidyl arginine deiminase 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:16,011,708...16,064,344
Ensembl chr 1:17,067,729...17,120,513

G

peptidyl arginine deiminase 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:16,193,461...16,228,942
Ensembl chr 1:17,249,084...17,283,926

G

peptidyl arginine deiminase 4

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:16,255,680...16,311,256
Ensembl chr 1:17,311,436...17,365,426

G

peptidyl arginine deiminase 6

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:16,319,457...16,348,683
Ensembl chr 1:17,373,869...17,404,346

G

pantothenate kinase 4 (inactive)

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:1,238,821...1,259,139
Ensembl chr 1:2,378,116...2,395,738

G

Parkinsonism associated deglycase

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:6,722,260...6,745,915
Ensembl chr 1:7,969,280...7,993,271

G

paired box 7

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:17,589,513...17,707,442
Ensembl chr 1:18,639,641...18,756,952

G

podoplanin

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:12,728,569...12,759,781
Ensembl chr 1:13,728,233...13,759,584

G

period circadian regulator 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:6,547,667...6,607,905
Ensembl chr 1:7,795,552...7,855,922

G

PPARGC1 and ESRR induced regulator, muscle 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

Ensembl chr 1:875,161...880,042

G

peroxisomal biogenesis factor 10

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

Ensembl chr 1:2,270,698...2,278,401

G

peroxisomal biogenesis factor 14

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:9,234,928...9,391,086
Ensembl chr 1:10,459,884...10,614,187

G

PHD finger protein 13

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:5,377,740...5,388,024
Ensembl chr 1:6,631,621...6,639,972

G

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

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:8,418,570...8,495,435
Ensembl chr 1:9,686,208...9,724,633

G

phospholipase A2 group IIA

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:18,930,294...18,934,563
Ensembl chr 1:19,971,084...19,977,627

G

phospholipase A2 group IIC

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:19,118,341...19,142,668
Ensembl chr 1:20,161,553...20,176,092

G

phospholipase A2 group IID

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:19,066,890...19,074,711
Ensembl chr 1:20,110,323...20,117,618

G

phospholipase A2 group IIE

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:18,874,301...18,878,218
Ensembl chr 1:19,918,391...19,921,639

G

phospholipase A2 group IIF

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:19,094,401...19,105,920
Ensembl chr 1:20,138,042...20,149,099

G

phospholipase A2 group V

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:18,983,104...19,046,834
Ensembl chr 1:20,068,110...20,089,840

G

phospholipase C eta 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:1,171,623...1,235,592
Ensembl chr 1:2,337,005...2,374,695

G

pleckstrin homology and RhoGEF domain containing G5

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:5,228,681...5,259,554
Ensembl chr 1:6,481,782...6,535,643

G

pleckstrin homology and RUN domain containing M2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:14,826,604...14,877,142
Ensembl chr 1:15,846,673...15,869,327

G

pleckstrin homology domain containing N1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

Ensembl chr 1:865,290...873,575

G

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:10,684,608...10,725,376
Ensembl chr 1:11,900,881...11,941,308

G

PRAME family member 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:11,546,924...11,549,679

G

PRAME family member 12

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:11,525,455...11,529,625

G

PRAME family member 20

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:12,006,813...12,010,964
Ensembl chr 1:13,553,798...13,564,608

G

PRAME family member 7

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

G

PR/SET domain 16

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:1,730,122...2,100,636
Ensembl chr 1:2,981,667...3,234,251

G

PR/SET domain 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:12,838,201...12,963,735
Ensembl chr 1:13,853,895...13,961,610
Ensembl chr 1:13,853,895...13,961,610

G

protein kinase C zeta

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:763,942...901,531
Ensembl chr 1:1,920,219...2,045,855

G

peroxiredoxin like 2B

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:1,319,718...1,324,409

G

pseudouridine synthase like 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:63,263...66,360
Ensembl chr 1:1,263,656...1,266,661

G

retinol binding protein 7

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:8,765,097...8,793,303
Ensembl chr 1:9,995,480...10,015,093

G

regulator of chromosome condensation 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:16,353,770...16,386,810
Ensembl chr 1:17,409,432...17,432,031

G

retention in endoplasmic reticulum sorting receptor 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

Ensembl chr 1:2,257,091...2,271,311

G

arginine-glutamic acid dipeptide repeats

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:7,111,594...7,576,667
Ensembl chr 1:8,351,367...8,648,973

G

ring finger protein 186

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:18,770,083...18,772,399
Ensembl chr 1:19,813,784...19,814,467

G

ring finger protein 207

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:4,972,787...4,986,992
Ensembl chr 1:6,229,241...6,242,770

G

ring finger protein 223

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

G

ribosomal protein L22

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:4,952,104...4,966,761
Ensembl chr 1:6,207,507...6,219,947

G

regulator of solute carriers 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

Ensembl chr 1:15,793,469...15,795,325

G

sterile alpha motif domain containing 11

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

G

sodium channel epithelial 1 subunit delta

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:35,437...46,538
Ensembl chr 1:1,238,512...1,247,649

G

stromal cell derived factor 4

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

G

succinate dehydrogenase complex iron sulfur subunit B

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509

G

SKI proto-oncogene

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:944,428...1,029,695
Ensembl chr 1:2,091,620...2,174,080

G

solute carrier family 25 member 33

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:8,300,384...8,343,270
Ensembl chr 1:9,541,918...9,574,549

G

solute carrier family 25 member 34

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:14,877,351...14,883,769
Ensembl chr 1:15,870,289...15,875,099

G

solute carrier family 2 member 5

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:7,792,361...7,840,634
Ensembl chr 1:9,028,790...9,078,509

G

solute carrier family 2 member 7

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:7,760,357...7,784,105
Ensembl chr 1:8,994,787...9,017,922

G

solute carrier family 35 member E2B

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:429,954...458,052
Ensembl chr 1:1,581,352...1,613,835

G

solute carrier family 45 member 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:7,071,109...7,102,698
Ensembl chr 1:8,314,224...8,340,248

G

solute carrier family 66 member 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:18,270,882...18,288,387
Ensembl chr 1:19,317,244...19,333,926

G

small integral membrane protein 1 (Vel blood group)

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:2,444,126...2,447,455
Ensembl chr 1:3,565,845...3,569,137

G

spermatogenesis associated 21

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:15,536,161...15,548,414
Ensembl chr 1:16,526,024...16,558,937

G

spen family transcriptional repressor

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:14,987,415...15,079,477
Ensembl chr 1:16,004,473...16,072,585

G

splA/ryanodine receptor domain and SOCS box containing 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:8,053,596...8,132,143
Ensembl chr 1:9,349,825...9,363,624

G

steroid receptor associated and regulated protein

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:15,141,681...15,144,147
Ensembl chr 1:16,134,435...16,136,875

G

spermidine synthase

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:9,817,765...9,823,244

G

SSU72 homolog, RNA polymerase II CTD phosphatase

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:301,984...335,634
Ensembl chr 1:1,463,184...1,494,797

G

SUZ RNA binding domain containing 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:15,504,491...15,535,571
Ensembl chr 1:16,495,288...16,525,404

G

TAR DNA binding protein

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:9,775,084...9,786,710
Ensembl chr 1:10,996,006...11,008,732

G

taste 1 receptor member 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:5,317,757...5,341,053
Ensembl chr 1:6,572,142...6,594,138

G

taste 1 receptor member 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:17,797,836...17,819,180
Ensembl chr 1:18,846,552...18,866,641

G

taste 1 receptor member 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:88,514...92,505
Ensembl chr 1:1,287,841...1,292,094

G

THAP domain containing 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:5,388,841...5,397,607
Ensembl chr 1:6,644,481...6,649,823

G

transmembrane and coiled-coil domains 4

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:18,637,101...18,756,705
Ensembl chr 1:19,679,928...19,799,299

G

transmembrane protein 201

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:8,349,271...8,375,601
Ensembl chr 1:9,583,400...9,606,331

G

transmembrane protein 240

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:295,102...301,161
Ensembl chr 1:1,456,731...1,462,005

G

transmembrane protein 278

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:181,849...185,020

G

transmembrane protein 51

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:14,293,923...14,358,165
Ensembl chr 1:15,346,218...15,351,584

G

transmembrane protein 52

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:623,603...626,169
Ensembl chr 1:1,780,877...1,782,570

G

transmembrane protein 82

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:14,884,522...14,890,352
Ensembl chr 1:15,875,416...15,881,677

G

TNF receptor superfamily member 14

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:1,288,493...1,296,532
Ensembl chr 1:2,427,631...2,435,615

G

TNF receptor superfamily member 18

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

G

TNF receptor superfamily member 1B

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646

G

TNF receptor superfamily member 25

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:5,222,680...5,228,211
Ensembl chr 1:6,475,498...6,480,424

G

TNF receptor superfamily member 4

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

Ensembl chr 1:1,168,935...1,171,337

G

TNF receptor superfamily member 8

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:10,813,111...10,893,005
Ensembl chr 1:12,029,038...12,108,495

G

TNF receptor superfamily member 9

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:6,681,954...6,703,813
Ensembl chr 1:7,942,641...7,949,326

G

tumor protein p73

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206

G

tumor protein p63 regulated 1 like

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:2,296,601...2,301,687

G

tetratricopeptide repeat domain 34

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:1,374,206...1,454,684

G

tubulin tyrosine ligase like 10

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

Ensembl chr 1:1,131,691...1,155,349

G

ubiquitin conjugating enzyme E2 J2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:8,756...28,672
Ensembl chr 1:1,211,502...1,231,530

G

ubiquitination factor E4B

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:8,801,707...8,949,465
Ensembl chr 1:10,033,084...10,178,759

G

UbiA prenyltransferase domain containing 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:10,039,415...10,161,005
Ensembl chr 1:11,260,412...11,281,381

G

ubiquitin protein ligase E3 component n-recognin 4

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:18,032,528...18,168,954
Ensembl chr 1:19,079,779...19,215,578

G

UBX domain protein 10

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:19,141,926...19,151,937
Ensembl chr 1:20,189,774...20,190,616

G

urotensin 2

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:6,609,104...6,616,966
Ensembl chr 1:7,854,687...7,864,688

G

vesicle associated membrane protein 3

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:6,534,115...6,544,275

G

vacuolar protein sorting 13 homolog D

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:10,978,555...11,260,839
Ensembl chr 1:12,197,389...12,476,612

G

von Willebrand factor A domain containing 1

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:192,970...198,099

G

WD repeat containing, antisense to TP73

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:2,302,331...2,320,946
Ensembl chr 1:3,425,648...3,444,318

G

zinc finger and BTB domain containing 17

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:15,080,880...15,113,676
Ensembl chr 1:16,074,005...16,106,700

G

zinc finger and BTB domain containing 48

ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome

NCBI chr 1:5,341,282...5,350,590
Ensembl chr 1:6,594,372...6,603,367

chromosome 1q21.1 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acid phosphatase 6, lysophosphatidic

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

NCBI chr 1:123,070,751...123,114,327
Ensembl chr 1:112,417,138...112,459,176

G

BCL9 transcription coactivator

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

NCBI chr 1:122,982,604...123,067,299
Ensembl chr 1:112,463,904...112,478,264

G

chromodomain helicase DNA binding protein 1 like

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

NCBI chr 1:122,595,246...122,720,788
Ensembl chr 1:112,809,274...112,862,219

G

flavin containing dimethylaniline monoxygenase 5

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

NCBI chr 1:122,605,677...122,648,325
Ensembl chr 1:112,881,859...112,921,194

G

gap junction protein alpha 5

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

PMID:25741868 PMID:28492532

NCBI chr 1:123,200,111...123,224,626
Ensembl chr 1:112,328,337...112,329,413

G

gap junction protein alpha 8

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

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

NCBI chr 1:123,352,801...123,355,625
Ensembl chr 1:112,174,365...112,177,893

G

protein kinase AMP-activated non-catalytic subunit beta 2

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

NCBI chr 1:122,577,308...122,595,083
Ensembl chr 1:112,934,877...112,952,364

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 1:199,403,194...199,469,079
Ensembl chr 1:204,414,218...204,457,739

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 chr16:1,132,435...1,196,226
Ensembl chr16:2,376,006...2,437,427

G

AIF family member 3

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:3,189,169...3,205,394
Ensembl chr22:19,679,873...19,695,349

G

ARVCF delta catenin family member

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:2,729,706...2,779,034
Ensembl chr22:18,403,239...18,449,183

G

BCR activator of RhoGEF and GTPase

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:25741868 PMID:38177409

G

chromosome 23 C22orf39 homolog

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:2,200,164...2,207,473
Ensembl chr22:17,875,330...17,882,694

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 chr22:3,754,748...3,759,940
Ensembl chr22:20,238,733...20,243,187

G

coiled-coil domain containing 188

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

Ensembl chr22:18,582,301...18,585,074

G

cell division cycle 45

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:2,239,040...2,279,807
Ensembl chr22:17,913,729...17,955,195

G

claudin 5

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:2,282,215...2,286,724
Ensembl chr22:17,958,182...17,959,093

G

clathrin heavy chain like 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:1,934,948...2,050,159
Ensembl chr22:17,613,828...17,726,231

G

catechol-O-methyltransferase

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387

G

CRK like proto-oncogene, adaptor protein

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:3,141,147...3,177,448
Ensembl chr22:19,632,359...19,668,858

G

DiGeorge syndrome critical region gene 2

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:1,790,899...1,876,983
Ensembl chr22:17,471,360...17,554,161

G

DiGeorge syndrome critical region gene 6 like

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

G

DGCR8 microprocessor complex subunit

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:2,841,041...2,872,325
Ensembl chr22:18,518,783...18,544,740

G

ess-2 splicing factor homolog

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:1,884,790...1,899,081
Ensembl chr22:17,566,021...17,576,686

G

G protein subunit alpha z

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:25741868 PMID:38177409

Ensembl chr22:21,719,169...21,746,851

G

G protein subunit beta 1 like

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:2,542,925...2,616,201
Ensembl chr22:18,222,195...18,289,580

G

glycoprotein Ib platelet subunit beta

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:2,485,350...2,486,688

G

goosecoid homeobox 2

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:1,901,389...1,904,671

G

HIC ZBTB transcriptional repressor 2

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:25741868 PMID:38177409

NCBI chr22:3,603,972...3,639,341
Ensembl chr 3:77,445,100...77,454,473

G

immunoglobulin lambda like polypeptide 5

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:25741868 PMID:38177409

G

kelch like family member 22

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

Ensembl chr22:19,122,875...19,174,842

G

transmembrane protein 191B

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409

NCBI chr22:3,585,499...3,588,293

G

protein HIRA

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:2,087,846...2,191,192
Ensembl chr22:17,765,598...17,847,084

G

protein FAM246C

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:1,783,387...1,785,859

G

putative ubiquitin carboxyl-terminal hydrolase 41

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

G

leucine rich repeat containing 74B

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:3,271,045...3,293,410
Ensembl chr22:19,760,186...19,774,303

G

leucine zipper like post translational regulator 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007

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 chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335

G

mediator complex subunit 15

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

Ensembl chr22:19,192,156...19,271,965

G

mitochondrial ribosomal protein L40

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:2,191,187...2,195,350
Ensembl chr22:17,866,322...17,870,539

G

purinergic receptor P2X 6

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:3,239,019...3,251,966
Ensembl chr22:19,728,644...19,741,078

G

phosphatidylinositol 4-kinase alpha

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:2,931,523...3,082,475

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 chr22:3,788,603...3,821,090
Ensembl chr22:20,272,383...20,304,130

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 chr22:4,039,032...4,072,165
Ensembl chr22:20,520,022...20,553,128

G

RAB36, member RAS oncogene family

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:25741868 PMID:38177409

Ensembl chr22:21,768,203...21,785,755

G

RAN binding protein 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:2,877,954...2,888,035
Ensembl chr22:18,549,055...18,560,573

G

RIMS binding protein 3C

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409

NCBI chr22:3,668,133...3,673,619

G

radial spoke head 14 homolog

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:25741868 PMID:38177409

Ensembl chr22:21,683,434...21,764,965

G

retrotransposon Gag like 10

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:2,607,363...2,616,113

G

reticulon 4 receptor

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

Ensembl chr22:18,673,548...18,680,017

G

scavenger receptor class F member 2

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

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 chr22:3,764,899...3,766,932
Ensembl chr22:20,248,566...20,250,607

G

septin 5

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:2,476,400...2,485,225
Ensembl chr22:18,150,865...18,159,697

G

serpin family D member 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:2,997,480...3,011,469
Ensembl chr22:19,488,733...19,502,380

G

solute carrier family 25 member 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:1,931,623...1,934,850
Ensembl chr22:17,609,157...17,612,463

G

solute carrier family 7 member 4

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:3,252,667...3,256,561
Ensembl chr22:19,738,025...19,744,931

G

synaptosome associated protein 29

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:3,082,622...3,115,325
Ensembl chr22:19,572,618...19,605,931

G

transport and golgi organization 2 homolog

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:2,779,217...2,826,445
Ensembl chr22:18,449,387...18,497,886

G

T-box transcription factor 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:2,521,080...2,541,267

G

THAP domain containing 7

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:3,223,789...3,226,213
Ensembl chr22:19,713,740...19,716,068

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 chr22:4,076,295...4,102,086
Ensembl chr22:20,557,248...20,583,464

G

tRNA methyltransferase 2 homolog A

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:2,872,328...2,877,732
Ensembl chr22:18,544,736...18,550,174

G

testis specific serine kinase 2

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:1,885,099...1,887,139
Ensembl chr22:17,563,492...17,564,568

G

thioredoxin reductase 2

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:2,636,703...2,704,082
Ensembl chr22:18,311,714...18,375,497

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 chr22:3,690,100...3,746,665
Ensembl chr22:20,174,546...20,229,928

G

ubiquitin recognition factor in ER associated degradation 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:2,209,590...2,238,449
Ensembl chr22:17,885,073...17,913,506

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 chr22:3,750,719...3,752,990
Ensembl chr22:20,233,969...20,236,176

G

yippee like 1

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409

NCBI chr22:3,820,354...3,858,632
Ensembl chr22:20,306,577...20,340,773

G

zinc finger DHHC-type palmitoyltransferase 8

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

NCBI chr22:2,891,738...2,894,404

G

zinc finger protein 280A

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409

G

zinc finger protein 280B

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409

G

zinc finger protein 74

ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal

Ensembl chr22:19,079,769...19,094,835

chromosome 22q11.2 microduplication syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AIF family member 3

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:3,189,169...3,205,394
Ensembl chr22:19,679,873...19,695,349

G

ARVCF delta catenin family member

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:2,729,706...2,779,034
Ensembl chr22:18,403,239...18,449,183

G

chromosome 23 C22orf39 homolog

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:2,200,164...2,207,473
Ensembl chr22:17,875,330...17,882,694

G

coiled-coil domain containing 188

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

Ensembl chr22:18,582,301...18,585,074

G

cell division cycle 45

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:2,239,040...2,279,807
Ensembl chr22:17,913,729...17,955,195

G

claudin 5

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:2,282,215...2,286,724
Ensembl chr22:17,958,182...17,959,093

G

clathrin heavy chain like 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:1,934,948...2,050,159
Ensembl chr22:17,613,828...17,726,231

G

catechol-O-methyltransferase

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387

G

CRK like proto-oncogene, adaptor protein

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:3,141,147...3,177,448
Ensembl chr22:19,632,359...19,668,858

G

DiGeorge syndrome critical region gene 2

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:1,790,899...1,876,983
Ensembl chr22:17,471,360...17,554,161

G

DiGeorge syndrome critical region gene 6 like

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

G

DGCR8 microprocessor complex subunit

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:2,841,041...2,872,325
Ensembl chr22:18,518,783...18,544,740

G

ess-2 splicing factor homolog

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:1,884,790...1,899,081
Ensembl chr22:17,566,021...17,576,686

G

G protein subunit beta 1 like

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:2,542,925...2,616,201
Ensembl chr22:18,222,195...18,289,580

G

glycoprotein Ib platelet subunit beta

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:2,485,350...2,486,688

G

goosecoid homeobox 2

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:1,901,389...1,904,671

G

kelch like family member 22

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

Ensembl chr22:19,122,875...19,174,842

G

protein HIRA

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:2,087,846...2,191,192
Ensembl chr22:17,765,598...17,847,084

G

protein FAM246C

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:1,783,387...1,785,859

G

putative ubiquitin carboxyl-terminal hydrolase 41

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 chr22:3,271,045...3,293,410
Ensembl chr22:19,760,186...19,774,303

G

leucine zipper like post translational regulator 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007

G

mediator complex subunit 15

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

Ensembl chr22:19,192,156...19,271,965

G

mitochondrial ribosomal protein L40

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:2,191,187...2,195,350
Ensembl chr22:17,866,322...17,870,539

G

purinergic receptor P2X 6

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:3,239,019...3,251,966
Ensembl chr22:19,728,644...19,741,078

G

phosphatidylinositol 4-kinase alpha

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:2,931,523...3,082,475

G

RAN binding protein 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:2,877,954...2,888,035
Ensembl chr22:18,549,055...18,560,573

G

retrotransposon Gag like 10

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:2,607,363...2,616,113

G

reticulon 4 receptor

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

Ensembl chr22:18,673,548...18,680,017

G

scavenger receptor class F member 2

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

G

septin 5

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:2,476,400...2,485,225
Ensembl chr22:18,150,865...18,159,697

G

serpin family D member 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:2,997,480...3,011,469
Ensembl chr22:19,488,733...19,502,380

G

solute carrier family 25 member 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:1,931,623...1,934,850
Ensembl chr22:17,609,157...17,612,463

G

solute carrier family 7 member 4

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:3,252,667...3,256,561
Ensembl chr22:19,738,025...19,744,931

G

synaptosome associated protein 29

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:3,082,622...3,115,325
Ensembl chr22:19,572,618...19,605,931

G

transport and golgi organization 2 homolog

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:2,779,217...2,826,445
Ensembl chr22:18,449,387...18,497,886

G

T-box transcription factor 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:2,521,080...2,541,267

G

THAP domain containing 7

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:3,223,789...3,226,213
Ensembl chr22:19,713,740...19,716,068

G

tRNA methyltransferase 2 homolog A

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:2,872,328...2,877,732
Ensembl chr22:18,544,736...18,550,174

G

testis specific serine kinase 2

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:1,885,099...1,887,139
Ensembl chr22:17,563,492...17,564,568

G

thioredoxin reductase 2

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:2,636,703...2,704,082
Ensembl chr22:18,311,714...18,375,497

G

ubiquitin recognition factor in ER associated degradation 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:2,209,590...2,238,449
Ensembl chr22:17,885,073...17,913,506

G

zinc finger DHHC-type palmitoyltransferase 8

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr22:2,891,738...2,894,404

G

zinc finger protein 74

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

Ensembl chr22:19,079,769...19,094,835

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 chr2A:61,272,350...61,555,244
Ensembl chr2A:62,411,173...62,644,812

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 chr2A:50,063,398...51,178,659
Ensembl chr2A:50,985,067...52,091,277

chromosome 2q37 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alanine--glyoxylate aminotransferase

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:128,125,289...128,137,091
Ensembl chr2B:246,928,784...246,939,837

G

ankyrin repeat and MYND domain containing 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:127,726,417...127,813,127
Ensembl chr2B:246,530,950...246,620,097

G

anoctamin 7

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:128,458,076...128,496,307
Ensembl chr2B:247,254,473...247,290,136

G

ankyrin repeat and SOCS box containing 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:125,664,934...125,690,175
Ensembl chr2B:244,508,295...244,527,771

G

autophagy related 4B cysteine peptidase

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:128,913,323...128,950,112
Ensembl chr2B:247,702,880...247,738,977

G

BCL2 family apoptosis regulator BOK

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:128,832,458...128,847,918
Ensembl chr2B:247,626,494...247,640,238

G

calpain 10

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:127,838,477...127,851,334
Ensembl chr2B:246,645,630...246,679,169

G

collagen type VI alpha 3 chain

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:124,554,478...124,644,482

G

COP9 signalosome subunit 8

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:124,315,423...124,328,830
Ensembl chr2B:243,169,322...243,182,937

G

COP9 signalosome subunit 9

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:127,373,916...127,379,543
Ensembl chr2B:246,186,565...246,196,471

G

ciliary rootlet coiled-coil, rootletin family member 2

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:128,164,643...128,248,255
Ensembl chr2B:246,967,325...247,050,201

G

D-2-hydroxyglutarate dehydrogenase

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:129,012,616...129,045,873
Ensembl chr2B:247,799,219...247,830,621

G

deoxythymidylate kinase

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:128,952,009...128,963,640
Ensembl chr2B:247,740,881...247,752,504

G

erythroferrone

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:125,390,190...125,401,677

G

espin like

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:125,331,809...125,364,719
Ensembl chr2B:244,182,781...244,214,009

G

family with sequence similarity 240 member C

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:129,153,910...129,170,184

G

FERM, ARH/RhoGEF and pleckstrin domain protein 2

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:128,627,208...128,766,233
Ensembl chr2B:247,438,265...247,559,735

G

galactose-3-O-sulfotransferase 2

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

G

glypican 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:127,684,839...127,717,294
Ensembl chr2B:246,511,082...246,523,569

G

G protein-coupled receptor 35

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:127,853,660...127,887,204
Ensembl chr2B:246,680,998...246,692,090

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 chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054

G

high density lipoprotein binding protein

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:128,498,647...128,587,305
Ensembl chr2B:247,293,154...247,335,318

G

hes family bHLH transcription factor 6

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:125,471,244...125,473,025

G

ILK associated serine/threonine phosphatase

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:125,403,220...125,436,614
Ensembl chr2B:244,253,970...244,278,317

G

inhibitor of growth family member 5

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:128,979,282...129,007,476
Ensembl chr2B:247,755,552...247,793,893

G

kinesin family member 1A

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:127,969,494...128,078,282
Ensembl chr2B:246,778,679...246,860,326

G

kelch like family member 30

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:125,370,477...125,386,866
Ensembl chr2B:244,220,949...244,234,879

G

long intergenic non-protein coding RNA 2991

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:126,824,113...126,831,927

G

olfactory receptor 6B3

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:127,289,492...127,290,483
Ensembl chr2B:246,105,172...246,106,170

G

olfactory receptor 6B2

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:127,273,084...127,276,009
Ensembl chr2B:246,090,216...246,091,154

G

aquaporin-12B

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:127,947,156...127,954,054

G

LRR binding FLII interacting protein 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:124,856,660...125,013,602
Ensembl chr2B:243,775,371...243,863,116

G

mab-21 like 4

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:128,144,248...128,154,670
Ensembl chr2B:246,946,812...246,956,949

G

melanophilin

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:124,716,573...124,781,829
Ensembl chr2B:243,569,782...243,633,177

G

mitochondrial transcription termination factor 4

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:128,330,967...128,362,014
Ensembl chr2B:247,128,252...247,158,239

G

NADH:ubiquinone oxidoreductase subunit A10

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:127,204,900...127,269,478
Ensembl chr2B:246,022,168...246,087,658

G

neuraminidase 4

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr12:130,824,179...130,833,287

G

otospiralin

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:127,381,936...127,383,875
Ensembl chr2B:246,199,022...246,200,861

G

PAS domain containing serine/threonine kinase

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:128,364,745...128,418,837
Ensembl chr2B:247,162,011...247,214,803

G

programmed cell death 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr12:130,849,353...130,858,776

G

period circadian regulator 2

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:125,477,021...125,521,577
Ensembl chr2B:244,328,122...244,371,040

G

protein phosphatase 1 regulatory subunit 7

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:128,418,212...128,452,417
Ensembl chr2B:247,214,882...247,248,761

G

prolactin releasing hormone

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:124,795,504...124,796,107
Ensembl chr2B:243,642,958...243,646,867

G

RAB17, member RAS oncogene family

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:124,802,789...124,820,775
Ensembl chr2B:243,654,176...243,671,003

G

receptor activity modifying protein 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:125,092,164...125,144,032
Ensembl chr2B:243,942,771...243,995,221

G

RNA binding motif protein 44

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:125,032,071...125,075,989

G

arginyl aminopeptidase like 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:127,820,523...127,830,863

G

receptor transporter protein 5 (putative)

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr12:130,870,027...130,871,938

G

selenocysteine lyase

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:125,276,540...125,331,057
Ensembl chr2B:244,144,105...244,181,767

G

septin 2

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:128,586,659...128,624,991
Ensembl chr2B:247,380,771...247,419,556

G

sushi, nidogen and EGF like domains 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:128,253,888...128,351,819
Ensembl chr2B:247,085,509...247,144,421

G

serine/threonine kinase 25

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:128,766,408...128,779,939
Ensembl chr2B:247,560,624...247,574,249

G

THAP domain containing 4

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:128,858,512...128,913,474
Ensembl chr2B:247,650,249...247,701,219

G

TRAF3 interacting protein 1

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:125,558,537...125,637,733
Ensembl chr2B:244,405,992...244,481,785

G

twist family bHLH transcription factor 2

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:126,080,684...126,143,677

G

ubiquitin conjugating enzyme E2 F (putative)

ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome

NCBI chr2B:125,198,590...125,274,112
Ensembl chr2B:244,050,518...244,125,333

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 chr 3:8,684,829...8,697,731
Ensembl chr 3:8,928,069...8,940,942

G

oxytocin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 3:8,701,344...8,721,706

G

SLIT-ROBO Rho GTPase activating protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 3:8,935,179...9,315,264
Ensembl chr 3:9,183,641...9,327,559

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 chr 3:194,050,519...194,056,524
Ensembl chr 3:203,988,092...203,996,486

G

discs large MAGUK scaffold protein 1

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr 3:194,386,263...194,648,015
Ensembl chr 3:204,323,724...204,584,987

G

dynein light chain Tctex-type 2B

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr 3:193,636,238...193,665,254
Ensembl chr 3:203,580,040...203,607,189

G

F-box protein 45

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr 3:193,913,712...193,934,123
Ensembl chr 3:203,856,374...203,876,537

G

melanotransferrin

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr 3:194,345,474...194,373,690
Ensembl chr 3:204,262,182...204,310,710

G

nuclear cap binding protein subunit 2

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr 3:194,277,280...194,284,456
Ensembl chr 3:204,214,282...204,221,294

G

NCBP2 antisense 2 (head to head)

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr 3:194,284,487...194,285,405
Ensembl chr 3:204,221,573...204,221,872

G

negative regulator of reactive oxygen species

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr 3:193,984,797...194,007,173
Ensembl chr 3:203,920,334...203,948,506

G

p21 (RAC1) activated kinase 2

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr 3:194,084,037...194,174,010
Ensembl chr 3:204,023,357...204,111,507

G

phosphate cytidylyltransferase 1A, choline

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr 3:193,574,603...193,633,601
Ensembl chr 3:203,517,951...203,576,854

G

phosphatidylinositol glycan anchor biosynthesis class X

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr 3:194,056,597...194,080,183
Ensembl chr 3:203,996,539...204,017,416

G

phosphatidylinositol glycan anchor biosynthesis class Z

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr 3:194,288,192...194,312,501
Ensembl chr 3:204,225,190...204,244,863

G

ring finger protein 168

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr 3:193,814,785...193,848,620
Ensembl chr 3:203,756,589...203,790,687

G

SUMO specific peptidase 5

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr 3:194,209,829...194,276,592
Ensembl chr 3:204,146,920...204,213,590

G

solute carrier family 51 member A

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr 3:193,554,592...193,573,984
Ensembl chr 3:203,504,092...203,521,354

G

single-pass membrane protein with coiled-coil domains 1

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr 3:193,851,672...193,882,810

G

transferrin receptor

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr 3:193,384,817...193,417,532
Ensembl chr 3:203,333,953...203,373,998

G

transmembrane 4 L six family member 19

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr 3:193,670,511...193,674,645
Ensembl chr 3:203,608,788...203,616,808

G

tyrosine kinase non receptor 2

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr 3:193,254,017...193,302,863

G

UBX domain protein 7

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr 3:193,699,924...193,778,452
Ensembl chr 3:203,643,126...203,719,317

G

WD repeat domain 53

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr 3:193,899,185...193,913,716
Ensembl chr 3:203,841,809...203,855,792

G

zinc finger DHHC-type palmitoyltransferase 19

ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome

NCBI chr 3:193,537,735...193,551,564
Ensembl chr 3:203,486,005...203,498,915

chromosome 4q21 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

abraxas 1, BRCA1 A complex subunit

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 4:40,711,139...40,736,763
Ensembl chr 4:46,556,892...46,581,573

G

CDP-diacylglycerol synthase 1

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 4:39,530,229...39,598,543
Ensembl chr 4:45,379,856...45,448,170

G

COP9 signalosome subunit 4

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 4:41,129,731...41,171,150
Ensembl chr 4:46,980,585...47,022,117

G

coenzyme Q2, polyprenyltransferase

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 4:40,913,015...40,934,594
Ensembl chr 4:46,762,659...46,784,014

G

enolase-phosphatase 1

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 4:41,741,072...41,771,150
Ensembl chr 4:47,591,329...47,621,357

G

glycerol-3-phosphate acyltransferase 3

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 4:40,590,801...40,660,527
Ensembl chr 4:46,438,848...46,506,455

G

helicase, POLQ like

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 4:40,740,392...40,788,907
Ensembl chr 4:46,586,882...46,635,108

G

heterogeneous nuclear ribonucleoprotein D

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 4:41,825,518...41,846,166
Ensembl chr 4:47,676,599...47,696,894

G

heterogeneous nuclear ribonucleoprotein D like

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 4:41,771,512...41,777,135
Ensembl chr 4:47,621,973...47,628,885

G

heparanase

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 4:40,863,491...40,905,693
Ensembl chr 4:46,709,621...46,755,157

G

lin-54 DREAM MuvB core complex component

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 4:41,192,653...41,278,730
Ensembl chr 4:47,046,277...47,131,091

G

mitochondrial ribosomal protein S18C

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 4:40,734,852...40,740,333
Ensembl chr 4:46,580,225...46,586,823

G

NK6 homeobox 1

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 4:39,683,420...39,689,651

G

placenta associated 8

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 4:41,089,847...41,115,061
Ensembl chr 4:46,943,940...46,964,131

G

stearoyl-CoA desaturase 5

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 4:41,404,736...41,574,802
Ensembl chr 4:47,255,546...47,425,894

G

SEC31 homolog A, COPII coat complex component

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 4:41,312,389...41,384,924
Ensembl chr 4:47,173,348...47,235,812

G

THAP domain containing 9

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 4:41,282,815...41,303,012
Ensembl chr 4:47,135,706...47,154,806

G

transmembrane protein 150C

ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome

NCBI chr 4:41,643,173...41,730,814
Ensembl chr 4:47,552,096...47,571,212

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 5:171,846,538...171,893,797
Ensembl chr 5:178,916,707...178,964,893

G

eukaryotic translation initiation factor 4E family member 1B

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 5:171,941,013...171,944,691
Ensembl chr 5:179,010,207...179,014,809

G

Fas associated factor family member 2

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 5:171,743,071...171,804,687
Ensembl chr 5:178,814,100...178,876,108

G

fibroblast growth factor receptor 4

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 5:172,386,443...172,400,271
Ensembl chr 5:179,454,995...179,467,605

G

G protein regulated inducer of neurite outgrowth 1

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 5:171,893,831...171,915,437

G

hexokinase 3

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 5:172,181,600...172,200,418
Ensembl chr 5:179,248,155...179,266,533

G

lectin, mannose binding 2

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 5:172,619,011...172,653,303
Ensembl chr 5:179,696,018...179,716,076

G

MAX dimerization protein 3

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 5:172,609,158...172,615,345
Ensembl chr 5:179,673,135...179,677,842

G

nuclear receptor binding SET domain protein 1

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 5:172,431,968...172,602,174
Ensembl chr 5:179,499,865...179,666,351

G

PRELI domain containing 1

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 5:172,605,767...172,608,901
Ensembl chr 5:179,669,885...179,672,965

G

RAB24, member RAS oncogene family

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 5:172,603,410...172,605,696
Ensembl chr 5:179,667,583...179,669,864

G

regulator of G protein signaling 14

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 5:172,659,323...172,674,084
Ensembl chr 5:179,721,876...179,739,453

G

ring finger protein 44

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 5:171,824,102...171,840,582

G

synuclein beta

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 5:171,918,297...171,928,672
Ensembl chr 5:178,988,439...178,998,800

G

tetraspanin 17

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 5:171,944,792...171,959,797
Ensembl chr 5:179,015,641...179,030,941

G

ubiquitin interaction motif containing 1

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 5:172,205,958...172,321,758
Ensembl chr 5:179,271,577...179,374,229

G

unc-5 netrin receptor A

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 5:172,110,396...172,181,839
Ensembl chr 5:179,181,251...179,248,377

G

zinc finger protein 346

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr 5:172,321,875...172,386,462
Ensembl chr 5:179,390,239...179,449,071

chromosome 5q deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

eukaryotic translation elongation factor 1 delta

ClinVar Annotator: match by term: Chromosome 5q deletion syndrome

NCBI chr 8:140,333,100...140,350,955
Ensembl chr 8:143,340,928...143,362,971

G

KLF transcription factor 1

mRNA:decreased expression:bone marrow, blood

NCBI chr19:12,446,130...12,449,238
Ensembl chr19:13,188,652...13,191,425

G

ribosomal protein S14

NCBI chr 5:145,869,410...145,875,038
Ensembl chr 5:151,873,605...151,879,128

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 6:149,058,350...149,176,710
Ensembl chr 6:153,757,081...153,873,925

G

AT-rich interaction domain 1B

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:154,581,148...155,018,706

G

acidic residue methyltransferase 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:149,268,840...149,286,618
Ensembl chr 6:153,965,211...153,983,027

G

coiled-coil domain containing 170

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:149,310,350...149,435,830
Ensembl chr 6:154,007,045...154,129,442

G

claudin 20

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:153,089,106...153,093,580
Ensembl chr 6:159,056,863...159,057,522

G

CNKSR family member 3

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:152,221,458...152,326,885

G

dynein light chain Tctex-type 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:156,530,068...156,538,346

G

estrogen receptor 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551

G

ezrin

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:156,656,146...156,709,986
Ensembl chr 6:161,670,483...161,723,102

G

F-box protein 5

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:150,793,020...150,806,008
Ensembl chr 6:155,481,753...155,494,231

G

fibronectin type III domain containing 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:157,057,862...157,160,066
Ensembl chr 6:162,098,598...162,173,981

G

general transcription factor IIH subunit 5

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

Ensembl chr 6:158,126,665...158,153,663

G

interaction protein for cytohesin exchange factors 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:151,975,688...152,173,692

G

iodotyrosine deiodinase

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:148,178,638...148,216,122
Ensembl chr 6:152,886,373...152,922,152

G

methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:148,679,587...148,919,002
Ensembl chr 6:153,390,498...153,619,884

G

mitochondrial translation release factor 1 like

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:150,810,353...150,825,162
Ensembl chr 6:155,498,473...155,513,910

G

MYC target 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:150,515,673...150,538,481
Ensembl chr 6:155,205,805...155,228,622

G

NADPH oxidase 3

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:153,210,190...153,270,955
Ensembl chr 6:159,174,261...159,234,642

G

opioid receptor mu 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:151,827,323...151,937,658
Ensembl chr 6:156,517,661...157,088,251

G

pleckstrin homology and RhoGEF domain containing G1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:148,411,676...148,657,616
Ensembl chr 6:153,240,586...153,362,070

G

regulator of G protein signaling 17

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:150,826,838...150,953,386
Ensembl chr 6:155,521,826...155,555,151

G

required for meiotic nuclear division 1 homolog

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:149,222,867...149,268,725
Ensembl chr 6:153,919,641...153,965,134

G

radial spoke head 3

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:156,861,740...156,889,821
Ensembl chr 6:161,880,465...161,904,315

G

SR-related CTD associated factor 8

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:152,548,019...152,776,596
Ensembl chr 6:158,514,265...158,614,407

G

serine active site containing 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:156,009,815...156,067,675
Ensembl chr 6:158,068,838...158,126,603

G

sorting nexin 9

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:155,724,026...155,844,553
Ensembl chr 6:157,824,918...157,903,357

G

spectrin repeat containing nuclear envelope protein 1

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:149,936,306...150,454,822
Ensembl chr 6:154,627,904...155,144,076

G

synaptojanin 2

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:155,881,818...156,011,416
Ensembl chr 6:157,940,179...158,055,662

G

synaptotagmin like 3

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:156,537,572...156,655,272
Ensembl chr 6:161,559,559...161,669,609

G

T cell activation RhoGTPase activating protein

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:156,923,859...156,934,714
Ensembl chr 6:161,938,457...161,949,158

G

transcription factor B1, mitochondrial

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:153,072,906...153,130,545
Ensembl chr 6:159,037,203...159,094,592

G

TIAM Rac1 associated GEF 2

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:152,809,716...153,074,427
Ensembl chr 6:158,902,783...159,038,777

G

transmembrane protein 181

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:156,431,076...156,529,012
Ensembl chr 6:161,445,828...161,539,535

G

transmembrane protein 242

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:155,101,644...155,208,800
Ensembl chr 6:157,273,524...157,279,329

G

TUB like protein 4

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:156,134,524...156,406,899
Ensembl chr 6:161,227,355...161,416,546

G

vasoactive intestinal peptide

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:150,564,545...150,573,582
Ensembl chr 6:155,254,652...155,263,730

G

zinc finger and BTB domain containing 2

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:149,182,302...149,210,147
Ensembl chr 6:153,879,460...153,906,608

G

zinc finger DHHC-type palmitoyltransferase 14

ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome

PMID:25741868 PMID:38177409

NCBI chr 6:155,265,511...155,566,706
Ensembl chr 6:157,336,695...157,630,035

Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain containing 146

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 7:68,965,404...69,215,833
Ensembl chr 7:82,900,402...83,027,578

G

C-C motif chemokine ligand 24

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 7:68,206,688...68,210,343
Ensembl chr 7:82,263,310...82,265,480

G

C-C motif chemokine ligand 26

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 7:68,230,804...68,251,369
Ensembl chr 7:82,221,846...82,242,874

G

deltex E3 ubiquitin ligase 2

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 7:67,509,102...67,537,030

G

fibrinogen like 2

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 7:69,114,082...69,120,575
Ensembl chr 7:82,926,266...82,932,550

G

gamma-secretase activating protein

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 7:69,231,374...69,340,215
Ensembl chr 7:83,043,730...83,146,026

G

huntingtin interacting protein 1

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 7:68,281,899...68,464,233

G

heat shock protein family B (small) member 1

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984

G

nuclear envelope pore membrane protein POM 121C

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

Ensembl chr 7:80,428,068...80,455,352

G

NADPH--cytochrome P450 reductase

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 7:68,035,021...68,105,934
Ensembl chr 7:82,364,418...82,437,530

G

tripartite motif-containing protein 73

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

G

membrane associated guanylate kinase, WW and PDZ domain containing 2

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 7:69,943,704...71,395,176
Ensembl chr 7:83,758,512...84,760,872

G

malate dehydrogenase 2

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 7:67,953,759...67,973,270
Ensembl chr 7:82,497,800...82,516,526

G

putative homeodomain transcription factor 2

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 7:69,724,248...69,885,162
Ensembl chr 7:83,579,418...83,695,756

G

POM121 and ZP3 fusion

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 7:67,404,702...67,422,739

G

protein tyrosine phosphatase non-receptor type 12

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 7:69,457,158...69,560,111
Ensembl chr 7:83,268,834...83,371,120

G

RCC1 like

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

Ensembl chr 7:82,016,477...82,065,189

G

rhomboid domain containing 2

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 7:68,132,256...68,142,198
Ensembl chr 7:82,328,777...82,338,401

G

round spermatid basic protein 1 like

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 7:69,611,208...69,708,170
Ensembl chr 7:83,426,713...83,519,420

G

serine/arginine repetitive matrix 3

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 7:67,732,909...67,818,031

G

scavenger receptor cysteine rich family member with 4 domains

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 7:67,610,728...67,631,061

G

serine/threonine/tyrosine interacting like 1

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 7:67,973,316...68,024,986
Ensembl chr 7:82,446,562...82,497,769

G

transmembrane protein 120A

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 7:68,026,666...68,034,896
Ensembl chr 7:82,437,650...82,444,882

G

transmembrane protein 60

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 7:69,719,209...69,723,899
Ensembl chr 7:83,533,732...83,534,133

G

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

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 7:67,661,589...67,693,814

G

zona pellucida glycoprotein 3

ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME

NCBI chr 7:67,574,932...67,592,757
Ensembl chr 7:82,844,162...82,891,655

chromosome 9p deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenylate kinase 3

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:4,541,984...4,576,341
Ensembl chr 9:4,732,847...4,762,900

G

bromodomain containing 10

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:5,739,412...5,825,564
Ensembl chr 9:5,921,634...6,006,544

G

CD274 molecule

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402

G

cell division cycle 37 like 1, HSP90 cochaperone

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:4,511,737...4,539,837
Ensembl chr 9:4,699,604...4,727,529

G

distal membrane arm assembly component 1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:7,593,380...7,596,687
Ensembl chr 9:7,767,678...7,770,977

G

doublesex and mab-3 related transcription factor 1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:650,678...778,519
Ensembl chr 9:844,366...972,656

G

doublesex and mab-3 related transcription factor 2

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:860,271...867,704
Ensembl chr 9:1,055,473...1,060,962

G

doublesex and mab-3 related transcription factor 3

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:786,402...801,114

G

dedicator of cytokinesis 8

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:6,791...256,837
Ensembl chr 9:201,156...446,910

G

endoplasmic reticulum metallopeptidase 1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:5,605,122...5,653,661
Ensembl chr 9:5,787,920...5,836,388

G

forkhead box D4

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr2B:129,258,299...129,277,210

G

FRAS1 related extracellular matrix 1

OMIM:158170

NCBI chr 9:14,567,781...14,748,474
Ensembl chr 9:15,081,208...15,253,399

G

glycine decarboxylase

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:6,347,381...6,456,042
Ensembl chr 9:6,527,242...6,635,779

G

GLIS family zinc finger 3

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:3,633,416...4,125,420
Ensembl chr 9:3,827,712...4,300,658

G

interleukin 33

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624

G

insulin like 4

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:5,074,759...5,077,320

G

insulin like 6

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:5,007,158...5,029,056
Ensembl chr 9:5,192,023...5,213,827

G

Janus kinase 2

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626

G

KN motif and ankyrin repeat domains 1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:550,713...556,230

G

potassium voltage-gated channel modifier subfamily V member 2

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:2,523,388...2,537,945
Ensembl chr 9:2,717,407...2,729,494

G

lysine demethylase 4C

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:6,568,569...6,978,741
Ensembl chr 9:6,746,265...7,155,298

G

prorelaxin H1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:5,173,570...5,255,799
Ensembl chr 9:5,359,582...5,364,386

G

melan-A

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:5,711,237...5,729,377
Ensembl chr 9:5,892,923...5,910,956

G

programmed cell death 1 ligand 2

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:5,313,071...5,391,676
Ensembl chr 9:5,514,449...5,575,688

G

plasminogen receptor with a C-terminal lysine

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:5,196,843...5,257,138
Ensembl chr 9:5,382,302...5,441,993

G

phospholipid phosphatase 6

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:4,494,408...4,497,405

G

protein tyrosine phosphatase receptor type D

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:8,113,171...10,420,732
Ensembl chr 9:8,288,569...8,831,227

G

pumilio RNA binding family member 3

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:2,606,386...2,645,943
Ensembl chr 9:2,797,969...2,837,321

G

RAN binding protein 6

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:5,828,088...5,833,054

G

RNA terminal phosphate cyclase like 1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:4,626,981...4,695,444
Ensembl chr 9:4,813,750...4,881,423

G

regulatory factor X3

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:3,024,016...3,332,266
Ensembl chr 9:3,223,405...3,398,839

G

RIC1 homolog, RAB6A GEF complex partner 1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:5,449,982...5,598,891
Ensembl chr 9:5,633,779...5,779,884

G

relaxin 2

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:5,138,882...5,167,037
Ensembl chr 9:5,324,368...5,329,081

G

solute carrier family 1 member 1

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:4,323,124...4,420,193
Ensembl chr 9:4,511,491...4,608,337

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409

G

spermatogenesis associated 6 like

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:4,373,755...4,500,502
Ensembl chr 9:4,625,140...4,686,478

G

TPD52 like 3

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:6,140,212...6,143,796
Ensembl chr 9:6,320,856...6,324,404

G

ubiquitin like with PHD and ring finger domains 2

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:6,228,895...6,322,319
Ensembl chr 9:6,409,081...6,502,484

G

very low density lipoprotein receptor

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

NCBI chr 9:2,428,639...2,463,796
Ensembl chr 9:2,621,199...2,653,980

G

Zn regulated GTPase metalloprotein activator 1A

ClinVar Annotator: match by term: Chromosome 9p deletion syndrome

Chromosome Deletion

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase inhibitor 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 9:21,803,862...21,831,322

G

RAD51 paralog D

CTD Direct Evidence: marker/mechanism

NCBI chr17:21,666,236...21,693,886
Ensembl chr17:21,958,212...21,978,406

G

SH3 and multiple ankyrin repeat domains 3

NCBI chr22:30,951,866...30,973,608

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

Ensembl chr 5:1,300,960...1,338,872

Deafness, with Smith-Magenis Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

unconventional myosin-XV

ClinVar Annotator: match by term: Deafness, with smith-magenis syndrome

PMID:11735029 PMID:17546645 PMID:19274735 PMID:24033266 PMID:25741868 More...

NCBI chr17:32,661,499...32,723,320

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

Ensembl chr15:40,769,539...40,795,723

G

creatine kinase U-type, mitochondrial

ClinVar Annotator: match by term: Deafness-infertility syndrome

NCBI chr15:22,654,349...22,660,890

G

protein disulfide isomerase family A member 3

ClinVar Annotator: match by term: Deafness-infertility syndrome

NCBI chr15:22,706,520...22,731,672
Ensembl chr15:40,794,144...40,821,763

G

diphosphoinositol pentakisphosphate kinase 1

ClinVar Annotator: match by term: Deafness-infertility syndrome

NCBI chr15:22,495,159...22,553,264

G

stereocilin

ClinVar Annotator: match by term: Deafness-infertility syndrome

PMID:18414213 PMID:21078986 PMID:22147502 PMID:24033266 PMID:25157971 More...

NCBI chr15:22,562,313...22,633,064
Ensembl chr15:40,769,539...40,795,723
Ensembl chr15:40,769,539...40,795,723

DiGeorge syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AIF family member 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 chr22:3,189,169...3,205,394
Ensembl chr22:19,679,873...19,695,349

G

aldehyde dehydrogenase 1 family member A2

OMIM:188400

NCBI chr15:36,925,443...37,038,288
Ensembl chr15:55,237,101...55,557,168

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 chr22:2,729,706...2,779,034
Ensembl chr22:18,403,239...18,449,183

G

BCR activator of RhoGEF and GTPase

ClinVar Annotator: match by term: DiGeorge syndrome

G

chromosome 23 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 chr22:2,200,164...2,207,473
Ensembl chr22:17,875,330...17,882,694

G

coiled-coil domain containing 116

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr22:3,754,748...3,759,940
Ensembl chr22:20,238,733...20,243,187

G

coiled-coil domain containing 188

ClinVar Annotator: match by term: 22q11.2 deletion syndrome

Ensembl chr22:18,582,301...18,585,074

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 chr22:2,239,040...2,279,807
Ensembl chr22:17,913,729...17,955,195

G

chordin

OMIM:188400

NCBI chr 3:181,417,140...181,460,236
Ensembl chr 3:189,898,856...189,908,573

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 chr22:2,282,215...2,286,724
Ensembl chr22:17,958,182...17,959,093

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 chr22:1,934,948...2,050,159
Ensembl chr22:17,613,828...17,726,231

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 chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387

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 chr22:3,141,147...3,177,448
Ensembl chr22:19,632,359...19,668,858

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 chr22:1,790,899...1,876,983
Ensembl chr22:17,471,360...17,554,161

G

DiGeorge syndrome critical region gene 6

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:31690835 PMID:32581362

NCBI chr22:1,647,018...1,653,326

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...

G

DGCR8 microprocessor complex subunit

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr22:2,841,041...2,872,325
Ensembl chr22:18,518,783...18,544,740

G

dicer 1, ribonuclease III

OMIM:188400

NCBI chr14:75,709,029...75,780,779
Ensembl chr14:95,036,385...95,107,940

G

dedicator of cytokinesis 1

OMIM:188400

NCBI chr10:123,485,345...124,041,337
Ensembl chr10:127,803,236...128,288,897

G

dishevelled segment polarity protein 1

NCBI chr 1:92,469...106,748
Ensembl chr 1:1,292,052...1,301,008

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 chr22:1,884,790...1,899,081
Ensembl chr22:17,566,021...17,576,686

G

fibroblast growth factor 8

CTD Direct Evidence: marker/mechanism
OMIM:188400

NCBI chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916

G

forkhead box N1

OMIM:188400

NCBI chr17:28,237,150...28,272,010
Ensembl chr17:28,740,775...28,773,592

G

G protein subunit alpha z

ClinVar Annotator: match by term: DiGeorge syndrome

Ensembl chr22:21,719,169...21,746,851

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 chr22:2,542,925...2,616,201
Ensembl chr22:18,222,195...18,289,580

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 chr22:2,485,350...2,486,688

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 chr22:1,901,389...1,904,671

G

HIC ZBTB transcriptional repressor 2

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr22:3,603,972...3,639,341
Ensembl chr 3:77,445,100...77,454,473

G

HNF1 homeobox A

ClinVar Annotator: match by term: DiGeorge syndrome

PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More...

NCBI chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911

G

homeobox A3

OMIM:188400

NCBI chr 7:27,750,642...27,767,125
Ensembl chr 7:27,350,491...27,371,169

G

immunoglobulin lambda like polypeptide 5

ClinVar Annotator: match by term: DiGeorge syndrome

G

lysine acetyltransferase 6A

OMIM:188400

NCBI chr 8:41,173,833...41,296,547
Ensembl chr 8:38,625,156...38,741,538

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...

Ensembl chr22:19,122,875...19,174,842

G

transmembrane protein 191B

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr22:3,585,499...3,588,293

G

protein HIRA

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 chr22:2,087,846...2,191,192
Ensembl chr22:17,765,598...17,847,084

G

protein FAM246C

ClinVar Annotator: match by term: 22q11.2 deletion syndrome

NCBI chr22:1,783,387...1,785,859

G

putative ubiquitin carboxyl-terminal hydrolase 41

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

leucine rich repeat containing 74B

ClinVar Annotator: match by term: 22q11.2 deletion syndrome

NCBI chr22:3,271,045...3,293,410
Ensembl chr22:19,760,186...19,774,303

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 chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007

G

mitogen-activated protein kinase 1

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335

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...

Ensembl chr22:19,192,156...19,271,965

G

microtubule associated monooxygenase, calponin and LIM domain containing 3

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr22:1,218,210...1,454,979
Ensembl chr22:16,651,820...16,767,723

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 chr22:2,191,187...2,195,350
Ensembl chr22:17,866,322...17,870,539

G

N-deacetylase and N-sulfotransferase 1

OMIM:188400

NCBI chr 5:145,910,993...145,982,933
Ensembl chr 5:151,936,357...151,986,668

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 chr22:3,239,019...3,251,966
Ensembl chr22:19,728,644...19,741,078

G

peroxisomal biogenesis factor 26

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr22:1,507,601...1,535,859
Ensembl chr22:16,936,405...16,989,730

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 chr22:2,931,523...3,082,475

G

plexin D1

OMIM:188400

NCBI chr 3:126,613,065...126,664,643

G

peptidylprolyl isomerase like 2

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr22:3,788,603...3,821,090
Ensembl chr22:20,272,383...20,304,130

G

protein phosphatase, Mg2+/Mn2+ dependent 1F

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr22:4,039,032...4,072,165
Ensembl chr22:20,520,022...20,553,128

G

proline dehydrogenase 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 chr22:1,654,019...1,678,389

G

RAB36, member RAS oncogene family

ClinVar Annotator: match by term: DiGeorge syndrome

Ensembl chr22:21,768,203...21,785,755

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 chr22:2,877,954...2,888,035
Ensembl chr22:18,549,055...18,560,573

G

RIMS binding protein 3C

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr22:3,668,133...3,673,619

G

radial spoke head 14 homolog

ClinVar Annotator: match by term: DiGeorge syndrome

Ensembl chr22:21,683,434...21,764,965

G

retrotransposon Gag like 10

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr22:2,607,363...2,616,113

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...

Ensembl chr22:18,673,548...18,680,017

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...

G

stromal cell derived factor 2 like 1

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr22:3,764,899...3,766,932
Ensembl chr22:20,248,566...20,250,607

G

septin 5

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:25516202 PMID:28492532

NCBI chr22:2,476,400...2,485,225
Ensembl chr22:18,150,865...18,159,697

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 chr22:2,997,480...3,011,469
Ensembl chr22:19,488,733...19,502,380

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 chr22:1,931,623...1,934,850
Ensembl chr22:17,609,157...17,612,463

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 chr22:3,252,667...3,256,561
Ensembl chr22:19,738,025...19,744,931

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 chr22:3,082,622...3,115,325
Ensembl chr22:19,572,618...19,605,931

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 chr22:5,078,435...5,224,090
Ensembl chr22:21,943,630...22,089,686

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 chr22:2,779,217...2,826,445
Ensembl chr22:18,449,387...18,497,886

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 chr22:2,521,080...2,541,267

G

transforming growth factor beta receptor 2

OMIM:188400

NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856

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 chr22:3,223,789...3,226,213
Ensembl chr22:19,713,740...19,716,068

G

DNA topoisomerase III beta

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr22:4,076,295...4,102,086
Ensembl chr22:20,557,248...20,583,464

G

tumor protein p53

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

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 chr22:2,872,328...2,877,732
Ensembl chr22:18,544,736...18,550,174

G

testis specific serine kinase 2

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome

PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...

NCBI chr22:1,885,099...1,887,139
Ensembl chr22:17,563,492...17,564,568

G

tubulin alpha 8

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr22:1,541,154...1,561,852
Ensembl chr22:16,936,405...16,989,730

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 chr22:2,636,703...2,704,082
Ensembl chr22:18,311,714...18,375,497

G

ubiquitin conjugating enzyme E2 L3

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr22:3,690,100...3,746,665
Ensembl chr22:20,174,546...20,229,928

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 chr22:2,209,590...2,238,449
Ensembl chr22:17,885,073...17,913,506

G

ubiquitin specific peptidase 18

ClinVar Annotator: match by term: DiGeorge syndrome

G

vascular endothelial growth factor A

OMIM:188400

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

G

YdjC chitooligosaccharide deacetylase homolog

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr22:3,750,719...3,752,990
Ensembl chr22:20,233,969...20,236,176

G

yippee like 1

ClinVar Annotator: match by term: DiGeorge syndrome

NCBI chr22:3,820,354...3,858,632
Ensembl chr22:20,306,577...20,340,773

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 chr22:2,891,738...2,894,404

G

zinc finger protein 280A

ClinVar Annotator: match by term: DiGeorge syndrome

G

zinc finger protein 280B

ClinVar Annotator: match by term: DiGeorge syndrome

G

zinc finger protein 366

OMIM:188400

NCBI chr 5:42,805,429...42,873,109
Ensembl chr 5:43,404,640...43,471,868

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...

Ensembl chr22:19,079,769...19,094,835

Digeorge Syndrome/Velocardiofacial Syndrome Complex 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nebulette

ClinVar Annotator: match by term: DiGeorge syndrome/velocardiofacial syndrome complex 2

PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 More...

NCBI chr10:20,941,514...21,336,931
Ensembl chr10:21,244,693...21,632,236

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 chr10:122,583,989...122,958,895
Ensembl chr10:126,852,441...127,165,048

G

ADAM metallopeptidase domain 8

ClinVar Annotator: match by term: Distal 10q deletion syndrome

Ensembl chr10:134,172,724...134,186,227

G

adhesion G protein-coupled receptor A1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

Ensembl chr10:133,984,718...134,043,217

G

BCL2 interacting protein 3

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr10:128,671,663...128,685,952
Ensembl chr10:132,858,211...132,871,634

G

chromosome 8 C10orf90 homolog

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr10:122,987,122...123,243,653
Ensembl chr10:127,259,451...127,357,119

G

calcyon neuron specific vesicular protein

ClinVar Annotator: match by term: Distal 10q deletion syndrome

Ensembl chr10:134,235,262...134,239,613

G

cilia and flagella associated protein 46

ClinVar Annotator: match by term: Distal 10q deletion syndrome

Ensembl chr10:133,706,366...133,850,322

G

clarin 3

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr10:124,464,925...124,493,994
Ensembl chr10:128,712,990...128,729,560

G

cytochrome P450 family 2 subfamily E member 1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

Ensembl chr10:134,839,025...134,852,719

G

DEAH-box helicase 32 (putative)

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr10:122,397,461...122,457,583
Ensembl chr10:126,661,521...126,706,460

G

dedicator of cytokinesis 1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr10:123,485,345...124,041,337
Ensembl chr10:127,803,236...128,288,897

G

dihydropyrimidinase like 4

ClinVar Annotator: match by term: Distal 10q deletion syndrome

Ensembl chr10:133,082,886...133,099,349

G

EBF transcription factor 3

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr10:126,432,326...126,561,328

G

enoyl-CoA hydratase, short chain 1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

Ensembl chr10:134,278,388...134,289,308

G

fibronectin type III and ankyrin repeat domains 1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr10:122,456,960...122,581,188
Ensembl chr10:126,721,288...126,844,601

G

forkhead box I2

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr10:124,325,031...124,327,965
Ensembl chr10:128,574,023...128,576,782

G

fucose mutarotase

ClinVar Annotator: match by term: Distal 10q deletion syndrome

Ensembl chr10:134,267,265...134,274,665

G

glutaredoxin 3

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr10:126,730,314...126,775,918
Ensembl chr10:130,973,022...131,019,742

G

inositol polyphosphate-5-phosphatase A

ClinVar Annotator: match by term: Distal 10q deletion syndrome

Ensembl chr10:133,437,718...133,681,116

G

inhibitory synaptic factor 2A

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr10:123,716,226...123,777,268
Ensembl chr10:127,972,818...128,033,414

G

Janus kinase and microtubule interacting protein 3

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr10:128,763,675...128,853,537
Ensembl chr10:132,993,545...133,056,352

G

kinase non-catalytic C-lobe domain containing 1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

Ensembl chr10:134,068,936...134,132,964

G

leucine rich repeat containing 27

ClinVar Annotator: match by term: Distal 10q deletion syndrome

Ensembl chr10:133,223,381...133,274,362

G

O-6-methylguanine-DNA methyltransferase

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422

G

marker of proliferation Ki-67

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555

G

mitochondrial ribosome associated GTPase 1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

Ensembl chr10:134,309,587...134,337,550

G

NK6 homeobox 2

ClinVar Annotator: match by term: Distal 10q deletion syndrome

Ensembl chr10:133,682,456...133,683,445

G

neuropeptide S

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr10:124,135,616...124,139,845
Ensembl chr10:128,384,897...128,388,217

G

polyamine oxidase

ClinVar Annotator: match by term: Distal 10q deletion syndrome

Ensembl chr10:134,294,760...134,307,179

G

protein phosphatase 2 regulatory subunit Bdelta

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr10:128,602,457...128,663,706

G

proline rich acidic protein 1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

Ensembl chr10:134,248,728...134,268,442

G

protein tyrosine phosphatase receptor type E

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr10:124,494,150...124,673,579
Ensembl chr10:128,836,367...128,922,584

G

PWWP domain containing 2B

ClinVar Annotator: match by term: Distal 10q deletion syndrome

Ensembl chr10:133,295,325...133,315,575

G

shadow of prion protein

ClinVar Annotator: match by term: Distal 10q deletion syndrome

G

serine/threonine kinase 32C

ClinVar Annotator: match by term: Distal 10q deletion syndrome

Ensembl chr10:133,099,678...133,199,479

G

synaptonemal complex central element protein 1

ClinVar Annotator: match by term: Distal 10q deletion syndrome

Ensembl chr10:134,866,705...134,878,566

G

transcription elongation regulator 1 like

ClinVar Annotator: match by term: Distal 10q deletion syndrome

NCBI chr10:127,777,993...127,997,905

G

tubulin gamma complex component 2

ClinVar Annotator: match by term: Distal 10q deletion syndrome

Ensembl chr10:134,187,115...134,214,693

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

Ensembl chr10:134,144,411...134,149,277

G

zinc finger protein 511

ClinVar Annotator: match by term: Distal 10q deletion syndrome

Ensembl chr10:134,221,062...134,224,957
Ensembl chr10:134,221,062...134,224,957

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 chr17:63,172,670...63,255,587
Ensembl chr17:68,563,702...68,629,791

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 chr2A:47,490,748...47,508,418
Ensembl chr2A:48,413,520...48,432,038

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 chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442

hypoparathyroidism-deafness-renal disease syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA binding domain containing 7

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:15,389,042...15,404,763
Ensembl chr10:15,669,766...15,686,078

G

aldo-keto reductase family 1 member C3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:5,079,580...5,157,572
Ensembl chr10:5,081,214...5,139,812

G

aldo-keto reductase family 1 member C4

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:5,247,368...5,271,554
Ensembl chr10:5,234,188...5,258,201

G

aldo-keto reductase family 1 member E2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

Ensembl chr10:4,850,001...4,872,210

G

ankyrin repeat domain 16

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:5,902,950...5,931,101
Ensembl chr10:5,887,294...5,916,076

G

ARF like GTPase 5B

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:18,978,412...19,000,643
Ensembl chr10:19,311,639...19,325,801

G

ankyrin repeat and SOCS box containing 13

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:5,680,437...5,708,159
Ensembl chr10:5,665,422...5,680,363

G

ATP synthase F1 subunit gamma

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:7,820,874...7,840,581
Ensembl chr10:7,801,438...7,821,088

G

BEN domain containing 7

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:13,436,937...13,526,652
Ensembl chr10:13,770,301...13,830,274

G

complement C1q like 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:16,829,350...16,839,614

G

calcium voltage-gated channel auxiliary subunit beta 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:18,459,528...18,862,495
Ensembl chr10:18,795,832...19,195,226

G

calmodulin like 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:5,565,223...5,567,471
Ensembl chr10:5,551,906...5,552,355

G

calmodulin like 5

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:5,539,954...5,540,829
Ensembl chr10:5,526,283...5,526,723

G

calcium/calmodulin dependent protein kinase ID

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:12,359,213...12,840,464
Ensembl chr10:12,540,854...12,808,599

G

coiled-coil domain containing 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:12,901,592...13,104,528
Ensembl chr10:12,875,678...13,025,280

G

cell division cycle 123

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:12,206,174...12,260,583
Ensembl chr10:12,186,494...12,245,147

G

cerebral dopamine neurotrophic factor

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:14,823,105...14,841,698
Ensembl chr10:15,151,359...15,169,689

G

CUGBP Elav-like family member 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:10,478,500...11,346,255
Ensembl chr10:10,793,682...11,330,504

G

cubilin

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:17,141,464...17,446,867
Ensembl chr10:17,415,551...17,719,129

G

DNA cross-link repair 1C

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:14,901,335...14,956,947
Ensembl chr10:15,236,558...15,269,043

G

dehydrogenase E1 and transketolase domain containing 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:12,073,324...12,130,589
Ensembl chr10:12,054,060...12,108,387

G

enoyl-CoA hydratase domain containing 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:11,746,922...11,768,609

G

family with sequence similarity 107 member B

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:14,518,959...14,778,796

G

family with sequence similarity 171 member A1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:15,533,814...15,696,362
Ensembl chr10:15,814,643...15,977,675

G

F-box DNA helicase 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:5,931,389...5,978,844
Ensembl chr10:5,915,713...5,962,778

G

FERM domain containing 4A

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:13,643,371...14,331,368
Ensembl chr10:13,975,845...14,192,399

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GATA binding protein 3

ClinVar Annotator: match by term: GATA3-related condition | ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

PMID:9536098 PMID:10935639 PMID:11389161 PMID:14985365 PMID:15705923 More...

NCBI chr10:8,075,951...8,105,573
Ensembl chr10:8,064,207...8,086,272

G

GDP dissociation inhibitor 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:5,806,336...5,854,676
Ensembl chr10:5,789,496...5,839,003

G

3-hydroxyacyl-CoA dehydratase 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:17,911,158...17,940,075
Ensembl chr10:18,183,125...18,209,361

G

heat shock protein family A (Hsp70) member 14

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:14,841,964...14,875,368
Ensembl chr10:15,169,747...15,204,263

G

interleukin 15 receptor subunit alpha

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:5,993,583...6,019,967

G

interleukin 2 receptor subunit alpha

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:6,053,549...6,103,863

G

integrin subunit alpha 8

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:15,838,320...16,045,206
Ensembl chr10:16,114,999...16,321,360

G

inter-alpha-trypsin inhibitor heavy chain 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:7,732,931...7,782,362
Ensembl chr10:7,713,454...7,762,756

G

inter-alpha-trypsin inhibitor heavy chain 5

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:7,589,897...7,697,190
Ensembl chr10:7,570,497...7,677,254

G

Kin17 DNA and RNA binding protein

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:7,783,842...7,820,778
Ensembl chr10:7,768,263...7,801,350

G

minichromosome maintenance 10 replication initiation factor

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:13,165,811...13,215,024
Ensembl chr10:13,138,824...13,187,991

G

meiosis/spermiogenesis associated 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:14,957,096...14,975,737

G

MINDY lysine 48 deubiquitinase 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:16,101,605...16,183,746
Ensembl chr10:16,377,064...16,459,135

G

neuroepithelial cell transforming 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:5,457,920...5,503,223
Ensembl chr10:5,444,127...5,489,509

G

N-myristoyltransferase 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:15,420,625...15,485,107
Ensembl chr10:15,703,478...15,765,434

G

NOP2/Sun RNA methyltransferase 6

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:18,864,484...18,978,297
Ensembl chr10:19,199,642...19,304,089

G

nudix hydrolase 5

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:12,177,922...12,206,435
Ensembl chr10:12,158,106...12,176,533

G

oleoyl-ACP hydrolase

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:15,356,380...15,386,599
Ensembl chr10:15,642,307...15,667,461

G

optineurin

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:13,104,335...13,142,725
Ensembl chr10:13,077,345...13,115,773

G

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:6,185,415...6,294,641
Ensembl chr10:6,167,841...6,275,940

G

phytanoyl-CoA 2-hydroxylase

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:13,277,804...13,300,115
Ensembl chr10:13,251,223...13,636,018

G

protein kinase C theta

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:6,458,138...6,610,781
Ensembl chr10:6,440,316...6,593,900

G

proline and serine rich 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:11,827,392...11,876,724

G

pre-mRNA processing factor 18

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:13,584,517...13,628,389
Ensembl chr10:13,915,943...13,959,830

G

phosphotriesterase related

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:16,754,485...16,830,379
Ensembl chr10:17,029,057...17,105,594

G

RNA binding motif protein 17

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:6,129,708...6,157,513
Ensembl chr10:6,120,488...6,140,085

G

ribonuclease P/MRP subunit p38

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:15,413,026...15,420,170
Ensembl chr10:15,700,027...15,703,046

G

RPP38 divergent transcript

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:15,411,274...15,413,209

G

Ras suppressor protein 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:16,909,912...17,134,697
Ensembl chr10:17,184,511...17,407,769

G

SEC61 translocon subunit alpha 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:12,136,907...12,175,765
Ensembl chr10:12,102,536...12,161,092

G

selenophosphate synthetase 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:13,316,013...13,347,087
Ensembl chr10:13,649,672...13,679,724

G

Scm like with four mbt domains 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:7,184,075...7,439,100
Ensembl chr10:7,172,229...7,419,939

G

solute carrier family 39 member 12

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:18,270,652...18,362,558
Ensembl chr10:18,541,859...18,698,851

G

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:17,632,154...17,771,252
Ensembl chr10:17,909,556...18,041,946

G

signal transducing adaptor molecule

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:17,962,759...18,035,654
Ensembl chr10:18,232,548...18,305,197

G

SUV39H2 histone lysine methyltransferase

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:14,882,491...14,907,724
Ensembl chr10:15,211,360...15,237,097

G

TATA-box binding protein associated factor 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:7,851,294...8,047,100

G

transcription activation suppressor family member 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:5,725,568...5,804,846
Ensembl chr10:5,710,427...5,789,150

G

tRNA aspartic acid methyltransferase 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:17,460,091...17,518,855
Ensembl chr10:17,738,374...17,791,345

G

tubulin alpha like 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:5,438,493...5,450,210
Ensembl chr10:5,424,484...5,436,529

G

upper zone of growth plate and cartilage matrix associated

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:13,223,897...13,237,230
Ensembl chr10:13,196,867...13,209,494

G

urocortin 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:5,410,501...5,419,650
Ensembl chr10:5,405,683...5,406,168

G

UPF2 regulator of nonsense mediated mRNA decay

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:11,924,483...12,047,617
Ensembl chr10:11,916,893...12,020,760

G

USP6 N-terminal like

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:11,470,413...11,542,608
Ensembl chr10:11,453,137...11,590,863

G

vimentin

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr10:17,546,389...17,554,702
Ensembl chr10:17,818,285...17,826,642

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 chr2A:44,463,474...44,876,680
Ensembl chr2A:45,398,350...45,808,747

G

protein phosphatase, Mg2+/Mn2+ dependent 1B

CTD Direct Evidence: marker/mechanism

NCBI chr2A:44,254,168...44,325,132
Ensembl chr2A:45,230,001...45,262,587

G

prolyl endopeptidase like

CTD Direct Evidence: marker/mechanism

NCBI chr2A:44,417,735...44,463,542
Ensembl chr2A:45,353,326...45,397,903

G

solute carrier family 3 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr2A:44,371,328...44,419,611
Ensembl chr2A:45,307,885...45,355,386

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 chr11:129,106,646...129,118,773
Ensembl chr11:132,964,071...132,976,092

G

acrosomal vesicle protein 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,493,328...120,502,632
Ensembl chr11:124,406,467...124,415,043

G

ADAM metallopeptidase with thrombospondin type 1 motif 15

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:125,264,129...125,291,655
Ensembl chr11:129,154,895...129,182,326

G

ADAM metallopeptidase with thrombospondin type 1 motif 8

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:125,220,258...125,244,841
Ensembl chr11:129,112,176...129,136,928

G

amyloid beta precursor like protein 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:124,881,191...124,944,472
Ensembl chr11:128,775,329...128,847,482

G

Rho GTPase activating protein 32

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:123,780,028...124,096,494
Ensembl chr11:127,684,622...127,909,822

G

beta-1,3-glucuronyltransferase 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:129,200,676...129,269,650
Ensembl chr11:133,089,603...133,117,492

G

BARX homeobox 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:124,187,026...124,264,154
Ensembl chr11:128,086,409...128,162,833

G

coiled-coil domain containing 15

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,781,702...119,872,629
Ensembl chr11:123,696,718...123,782,549

G

cell adhesion associated, oncogene regulated

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,772,160...120,877,529
Ensembl chr11:124,685,084...124,786,091

G

checkpoint kinase 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,446,352...120,478,207
Ensembl chr11:124,359,218...124,390,981

G

decapping enzyme, scavenger

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:121,119,720...121,159,513
Ensembl chr11:125,028,616...125,068,807

G

DEAD-box helicase 25

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,718,758...120,738,527
Ensembl chr11:124,632,841...124,667,585

G

EI24 autophagy associated transmembrane protein

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,389,136...120,404,347
Ensembl chr11:124,302,289...124,317,346

G

endothelial cell adhesion molecule

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,580,140...119,589,338
Ensembl chr11:123,495,779...123,504,938

G

ETS proto-oncogene 1, transcription factor

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:123,272,111...123,400,413
Ensembl chr11:127,174,721...127,288,673

G

family with sequence similarity 118 member B

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:121,025,604...121,076,860
Ensembl chr11:124,936,564...124,988,051

G

fasciculation and elongation protein zeta 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,272,187...120,322,600
Ensembl chr11:124,182,901...124,236,403

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 chr11:123,506,859...123,626,024
Ensembl chr11:127,409,301...127,530,312

G

FAD dependent oxidoreductase domain containing 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:121,083,245...121,096,296
Ensembl chr11:124,993,070...125,005,798

G

galactosidase beta 1 like 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:129,184,833...129,233,585
Ensembl chr11:133,052,848...133,087,425

G

galactosidase beta 1 like 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:129,126,472...129,172,535
Ensembl chr11:132,987,384...133,029,890

G

hepatic and glial cell adhesion molecule

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,746,915...119,764,062
Ensembl chr11:123,663,210...123,678,015

G

hepatocellular carcinoma, down-regulated 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,746,926...119,748,366
Ensembl chr11:123,661,843...123,662,109

G

HYLS1 centriolar and ciliogenesis associated

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,703,436...120,716,415

G

immunoglobulin superfamily member 9B

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:128,734,144...128,802,383
Ensembl chr11:132,615,398...132,664,811

G

junctional adhesion molecule 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:128,916,024...129,006,497
Ensembl chr11:132,783,580...132,864,657

G

potassium inwardly rectifying channel subfamily J member 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:123,649,466...123,680,149
Ensembl chr11:127,553,327...127,557,860

G

potassium inwardly rectifying channel subfamily J member 5

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:123,705,361...123,735,370
Ensembl chr11:127,606,208...127,634,213

G

KCNJ5 antisense RNA 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:123,715,331...123,718,621
Ensembl chr11:127,615,846...127,621,983

G

kirre like nephrin family adhesion molecule 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:121,236,962...121,821,806
Ensembl chr11:125,146,563...125,723,504

G

long intergenic non-protein coding RNA 2873

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:125,487,375...125,532,848

G

olfactory receptor 8A1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,395,269...119,396,731
Ensembl chr11:123,310,904...123,311,884

G

olfactory receptor 8B12

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,367,996...119,368,928

G

olfactory receptor 8B4

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,250,801...119,251,733

G

olfactory receptor 8B3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,223,013...119,224,485

G

Myb/SANT DNA binding domain containing 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,593,493...119,628,962
Ensembl chr11:123,509,696...123,543,184

G

non-SMC condensin II complex subunit D3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:129,005,365...129,078,581
Ensembl chr11:132,865,349...132,935,590

G

nuclear factor related to kappaB binding protein

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:124,676,456...124,708,349
Ensembl chr11:128,572,240...128,601,779

G

neurogranin

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,566,934...119,574,248

G

neurotrimin

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:126,189,660...127,154,890
Ensembl chr11:130,617,876...131,037,876

G

opioid binding protein/cell adhesion molecule like

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:127,233,465...128,377,367

G

pannexin 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,438,866...119,452,174
Ensembl chr11:123,354,919...123,363,463

G

prostate and testis expressed 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,565,280...120,568,857
Ensembl chr11:124,478,417...124,480,839

G

prostate and testis expressed 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,595,136...120,703,189
Ensembl chr11:124,509,500...124,510,891

G

prostate and testis expressed 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,607,720...120,611,235
Ensembl chr11:124,520,239...124,523,719

G

prostate and testis expressed 4

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,651,794...120,659,020
Ensembl chr11:124,565,341...124,572,090

G

PBX/knotted 1 homeobox 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,991,916...120,259,800
Ensembl chr11:124,072,715...124,173,865

G

PR/SET domain 10

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:124,712,440...124,816,141
Ensembl chr11:128,607,600...128,710,156

G

pseudouridine synthase 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,709,264...120,718,773
Ensembl chr11:124,622,279...124,629,508

G

roundabout guidance receptor 3

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,692,232...119,708,309
Ensembl chr11:123,607,268...123,623,356

G

roundabout guidance receptor 4

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,711,023...119,724,701
Ensembl chr11:123,626,063...123,639,837

G

RNA pseudouridine synthase D4

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,997,815...121,025,558
Ensembl chr11:124,926,910...124,936,621

G

sialic acid acetylesterase

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,463,554...119,503,192
Ensembl chr11:123,378,866...123,416,935

G

solute carrier family 37 member 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,890,340...119,917,731
Ensembl chr11:123,804,677...123,832,326

G

sorting nexin 19

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:125,691,537...125,732,206
Ensembl chr11:129,581,876...129,622,517

G

sperm autoantigenic protein 17

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,501,604...119,526,103
Ensembl chr11:123,416,725...123,437,818

G

spermatogenesis associated 19

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

Ensembl chr11:132,550,916...132,555,821

G

SRP receptor subunit alpha

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:121,071,054...121,083,106
Ensembl chr11:124,987,307...124,993,347

G

ST14 transmembrane serine protease matriptase

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:125,001,771...125,021,371
Ensembl chr11:128,888,124...128,913,559

G

ST3 beta-galactoside alpha-2,3-sialyltransferase 4

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:121,169,213...121,228,287
Ensembl chr11:125,079,260...125,141,737

G

STT3 oligosaccharyltransferase complex catalytic subunit A

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:120,412,488...120,440,713
Ensembl chr11:124,325,762...124,353,596

G

transforming growth factor beta regulator 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,450,666...119,463,685
Ensembl chr11:123,365,974...123,378,463

G

thymocyte nuclear protein 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:129,101,422...129,106,521
Ensembl chr11:132,958,850...132,963,911

G

TIR domain containing adaptor protein

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:121,100,558...121,112,844
Ensembl chr11:125,018,064...125,022,309

G

transmembrane protein 218

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,924,220...119,938,931
Ensembl chr11:123,839,054...123,843,682

G

transmembrane protein 45B

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:124,629,967...124,673,385
Ensembl chr11:128,526,824...128,568,268

G

tumor protein p53 regulated apoptosis inducing protein 1

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:123,748,770...123,757,797
Ensembl chr11:127,650,841...127,659,213

G

VPS26 retromer complex component B

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:129,077,964...129,100,936
Ensembl chr11:132,936,077...132,958,364

G

V-set and immunoglobulin domain containing 2

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:119,573,939...119,579,988
Ensembl chr11:123,490,150...123,495,720

G

zinc finger and BTB domain containing 44

ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia

NCBI chr11:125,037,645...125,125,711
Ensembl chr11:128,929,826...128,964,790

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 9:108,067,633...108,089,742
Ensembl chr 9:137,036,696...137,057,776

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 chr12:64,357,176...64,500,358
Ensembl chr12:66,960,888...67,102,496

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 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707

G

ADAMTS like 2

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:104,658,540...104,698,854
Ensembl chr 9:133,269,369...133,309,602

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 9:107,749,195...107,763,033
Ensembl chr 9:136,722,914...136,737,286

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 9:107,898,222...107,908,125

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 9:108,234,949...108,248,227
Ensembl chr 9:137,204,356...137,217,652

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 9:108,711,276...108,720,942
Ensembl chr 9:137,664,787...137,668,688

G

bromodomain containing 3

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:105,151,354...105,189,754
Ensembl chr 9:133,759,111...133,782,419

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 9:108,003,376...108,005,648
Ensembl chr 9:136,974,556...136,976,152

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 9:104,582,983...104,593,960
Ensembl chr 9:133,194,490...133,205,686

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 9:108,989,621...109,256,841

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 9:106,881,023...106,979,501
Ensembl chr 9:135,866,980...135,944,911

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 9:107,432,709...107,446,271
Ensembl chr 9:136,416,279...136,424,756

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 9:107,853,783...107,865,565
Ensembl chr 9:136,824,266...136,835,166

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 9:108,303,199...108,310,953
Ensembl chr 9:137,271,636...137,275,827

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 9:108,054,934...108,057,100
Ensembl chr 9:137,023,505...137,025,361

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 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651

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 9:108,284,155...108,285,850
Ensembl chr 9:137,252,943...137,254,611

G

dopamine beta-hydroxylase

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:104,761,504...104,784,445
Ensembl chr 9:133,371,821...133,393,697

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 9:107,786,349...107,798,873
Ensembl chr 9:136,760,243...136,769,833

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 9:107,432,709...107,436,360

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 9:108,635,082...108,680,315
Ensembl chr 9:137,597,639...137,627,279

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 9:108,170,361...108,189,498

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 9:107,919,200...107,923,415
Ensembl chr 9:136,889,383...136,891,133

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 9:107,735,192...107,748,729
Ensembl chr 9:136,708,783...136,722,448

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 9:108,724,568...108,951,077
Ensembl chr 9:137,764,950...137,895,564

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 9:108,108,780...108,114,806
Ensembl chr 9:137,077,207...137,083,031

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 9:108,503,511...108,511,822
Ensembl chr 9:137,468,154...137,472,092

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 9:107,474,676...107,483,625
Ensembl chr 9:136,454,597...136,463,414

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 9:108,366,206...108,490,346
Ensembl chr 9:137,336,229...137,427,312

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 9:104,700,420...104,734,748
Ensembl chr 9:133,311,168...133,343,841

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 9:107,998,949...108,003,247
Ensembl chr 9:136,969,957...136,973,945

G

fucosyltransferase 7

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:108,090,793...108,093,513
Ensembl chr 9:137,058,831...137,061,607

G

glycosyltransferase 6 domain containing 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:106,714,367...106,717,245
Ensembl chr 9:135,705,743...135,708,268

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 9:107,400,819...107,432,165
Ensembl chr 9:136,383,929...136,410,561

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 9:108,198,350...108,228,887
Ensembl chr 9:137,168,722...137,197,382

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 9:107,502,838...107,516,325
Ensembl chr 9:136,483,144...136,492,731

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 9:106,773,184...106,867,490
Ensembl chr 9:135,763,956...135,852,482

G

lysine methyltransferase 2C

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:25741868 PMID:39013459

NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043

G

lipocalin 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:106,662,265...106,667,575
Ensembl chr 9:135,654,722...135,659,869

G

lipocalin 12

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:108,008,222...108,014,028
Ensembl chr 9:136,981,665...136,984,643

G

lipocalin 15

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:107,818,230...107,828,652
Ensembl chr 9:136,788,329...136,794,304

G

lipocalin 8

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:107,811,520...107,817,297
Ensembl chr 9:136,783,245...136,787,178

G

lipocalin 9

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

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 9:108,043,835...108,045,585
Ensembl chr 9:137,012,430...137,013,864

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 9:107,271,131...107,280,001
Ensembl chr 9:136,252,880...136,260,366

G

long intergenic non-protein coding RNA 2907

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:106,481,811...106,482,817

G

long intergenic non-protein coding RNA 2908

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:108,093,280...108,097,369

G

uncharacterized protein C9orf163

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:107,561,734...107,562,397

G

surfeit locus protein 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:104,475,018...104,479,714
Ensembl chr 9:133,085,739...133,088,904

G

ficolin-2

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:105,995,807...106,020,389
Ensembl chr 9:134,997,038...135,018,992

G

ficolin-1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:106,039,315...106,047,648
Ensembl chr 9:135,040,310...135,049,111

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 9:108,228,889...108,230,178
Ensembl chr 9:137,198,298...137,199,602

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 9:107,908,156...107,917,883
Ensembl chr 9:136,878,324...136,888,065

G

mannosidase alpha class 1B member 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:108,148,020...108,168,931
Ensembl chr 9:137,118,361...137,139,066

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 9:108,631,543...108,632,733

G

mitochondrial ribosomal protein S2

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:106,640,673...106,645,374
Ensembl chr 9:135,633,900...135,637,926

G

myomaker, myoblast fusion factor

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:104,638,011...104,668,204
Ensembl chr 9:133,248,761...133,259,631

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 9:107,079,113...107,168,332
Ensembl chr 9:136,066,229...136,105,176

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 9:108,265,305...108,278,923
Ensembl chr 9:137,233,940...137,247,716

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 9:108,314,535...108,333,050
Ensembl chr 9:137,278,964...137,301,751

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 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740

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 9:108,490,455...108,503,555
Ensembl chr 9:137,455,874...137,468,196

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 9:108,100,164...108,107,324
Ensembl chr 9:137,068,846...137,072,257

G

nuclear receptor subfamily 1 group I member 3

ClinVar Annotator: match by term: Kleefstra syndrome 1

NCBI chr 1:136,642,126...136,651,074
Ensembl chr 1:140,553,951...140,562,799

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 9:108,358,959...108,361,586

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 9:108,518,698...108,531,316
Ensembl chr 9:137,482,420...137,495,990

G

olfactomedin 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:106,206,133...106,253,386
Ensembl chr 9:135,205,710...135,252,598

G

progestagen associated endometrial protein

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:25741868 PMID:28492532 PMID:31209758

NCBI chr 9:106,669,550...106,681,918

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 9:108,052,793...108,055,298
Ensembl chr 9:137,021,230...137,022,805

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 9:107,906,160...107,908,130

G

piercer of microtubule wall 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:106,635,911...106,641,274
Ensembl chr 9:135,628,471...135,633,837

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 9:107,483,608...107,499,176
Ensembl chr 9:136,464,070...136,477,569

G

patatin like domain 7, lysophospholipase

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

NCBI chr 9:108,531,917...108,631,119
Ensembl chr 9:137,496,924...137,593,154

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 9:106,620,368...106,629,655

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 9:108,037,994...108,042,136
Ensembl chr 9:137,006,601...137,009,680

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 9:107,281,207...107,320,420
Ensembl chr 9:136,261,578...136,282,774

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 9:107,865,764...107,898,073
Ensembl chr 9:136,849,527...136,868,545

G

REX4 homolog, 3'-5' exonuclease

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:104,528,838...104,540,813
Ensembl chr 9:133,140,392...133,152,413

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 9:108,279,801...108,281,695
Ensembl chr 9:137,248,765...137,249,550

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 9:108,287,236...108,289,186
Ensembl chr 9:137,255,866...137,257,947

G

retinoid X receptor alpha

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:105,424,046...105,539,241
Ensembl chr 9:134,082,865...134,144,704

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 9:108,122,658...108,132,397

G

sarcosine dehydrogenase

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:104,786,774...104,864,480
Ensembl chr 9:133,398,806...133,473,642

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 9:107,516,556...107,560,930
Ensembl chr 9:136,493,957...136,533,655

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 9:104,589,227...104,602,769
Ensembl chr 9:133,205,995...133,214,051

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 9:108,290,905...108,296,186
Ensembl chr 9:137,259,243...137,264,947

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 9:107,448,180...107,473,022
Ensembl chr 9:136,428,732...136,450,653

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 9:106,765,101...106,786,836
Ensembl chr 9:135,755,100...135,761,228

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 9:108,248,263...108,250,002
Ensembl chr 9:137,217,653...137,219,406

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 9:104,499,706...104,528,872
Ensembl chr 9:133,111,802...133,140,430

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 9:108,310,511...108,314,233
Ensembl chr 9:137,278,844...137,282,670

G

surfeit 2

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:104,479,741...104,484,493
Ensembl chr 9:133,091,321...133,096,054

G

surfeit 4

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:104,484,792...104,499,508
Ensembl chr 9:133,096,353...133,103,007

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 9:107,849,421...107,851,438

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 9:108,252,170...108,265,276
Ensembl chr 9:137,233,273...137,233,683

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 9:108,231,003...108,232,819
Ensembl chr 9:137,200,480...137,201,612

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 9:107,187,362...107,191,642
Ensembl chr 9:136,170,880...136,171,292

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 9:108,337,814...108,342,723
Ensembl chr 9:137,307,626...137,310,283

G

taperin

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More...

NCBI chr 9:108,251,235...108,261,541

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 9:107,938,935...107,984,797
Ensembl chr 9:136,917,358...136,955,331

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 9:108,300,868...108,303,321
Ensembl chr 9:137,268,942...137,271,758

G

UDP-N-acetylglucosamine pyrophosphorylase 1 like 1

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More...

NCBI chr 9:108,138,569...108,145,644
Ensembl chr 9:137,108,764...137,115,793

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 9:107,004,643...107,033,286
Ensembl chr 9:135,988,020...136,016,046

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 9:104,883,197...105,115,143
Ensembl chr 9:133,494,481...133,668,036

G

WD repeat domain 5

ClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758

NCBI chr 9:105,241,415...105,265,925
Ensembl chr 9:133,848,185...133,872,889

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 9:108,682,634...108,696,671
Ensembl chr 9:137,630,101...137,642,871

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 chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

G

chromosome 9 C11orf65 homolog

ClinVar Annotator: match by term: Koolen-de Vries syndrome

PMID:9043869 PMID:10817650 PMID:12815592 PMID:16238588 PMID:17124347 More...

NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886

G

corticotropin releasing hormone receptor 1

ClinVar Annotator: match by term: Koolen-de Vries syndrome

PMID:18628315 PMID:21094706 PMID:28492532

NCBI chr17:11,261,435...11,313,630
Ensembl chr17:11,650,057...11,701,208

G

KAT8 regulatory NSL complex subunit 1

ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome | ClinVar Annotator: match by term: KANSL1-related condition | ClinVar Annotator: match by term: Koolen-de Vries syndrome

PMID:2544363 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18628315 More...

NCBI chr17:11,508,245...11,705,023
Ensembl chr17:11,296,318...11,456,593

G

leucine rich repeat containing 37A

ClinVar Annotator: match by term: Koolen-de Vries syndrome

NCBI chr17:10,950,910...10,994,873

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 chr17:11,373,220...11,506,669
Ensembl chr17:11,458,159...11,523,129

G

signal peptide peptidase like 2C

ClinVar Annotator: match by term: Koolen-de Vries syndrome

PMID:18628315 PMID:21094706 PMID:28492532

NCBI chr17:11,323,494...11,325,924
Ensembl chr17:11,637,880...11,639,934

G

saitohin

ClinVar Annotator: match by term: Koolen-de Vries syndrome

PMID:18628315 PMID:21094706 PMID:28492532

NCBI chr17:11,475,944...11,479,303

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 chr17:2,020,163...2,035,044
Ensembl chr17:1,908,248...1,923,094

G

HIC ZBTB transcriptional repressor 1

OMIM:247200

NCBI chr17:2,045,960...2,051,483

G

MAX network transcriptional repressor

OMIM:247200

NCBI chr17:2,375,414...2,392,423

G

myosin IC

ClinVar Annotator: match by term: Miller Dieker syndrome

NCBI chr17:1,446,506...1,475,634
Ensembl chr17:1,345,143...1,375,540

G

platelet activating factor acetylhydrolase 1b regulatory subunit 1

OMIM:247200

NCBI chr17:2,584,349...2,676,928
Ensembl chr17:2,590,007...2,680,994

G

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

OMIM:247200

NCBI chr17:1,332,004...1,387,120
Ensembl chr17:1,229,080...1,285,470

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 chr 7:85,086,661...85,104,983

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 1:60,331,945...60,713,729
Ensembl chr 1:61,938,945...62,526,753

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 chr22:30,978,598...30,985,739
Ensembl chr22:50,085,719...50,092,869

G

adrenomedullin 2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,729,236...30,734,801
Ensembl chr22:49,715,342...49,719,989

G

ALG12 alpha-1,6-mannosyltransferase

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,110,873...30,139,359
Ensembl chr22:49,126,234...49,136,740

G

Rho GTPase activating protein 8

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:25,650,927...25,755,578
Ensembl chr22:43,760,203...43,820,836
Ensembl chr22:43,760,203...43,820,836

G

arylsulfatase A

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,868,812...30,871,970
Ensembl chr22:49,978,955...49,982,099

G

ataxin 10

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:26,556,201...26,729,098
Ensembl chr22:44,733,466...44,906,582

G

BCL2 interacting killer

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:23,994,256...24,014,244
Ensembl chr22:42,207,149...42,213,022

G

bromodomain containing 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:29,993,902...30,048,349
Ensembl chr22:48,998,037...49,048,101

G

cysteine rich DPF motif domain containing 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

Ensembl chr22:45,309,329...45,313,596

G

cadherin EGF LAG seven-pass G-type receptor 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

Ensembl chr22:45,428,159...45,604,453

G

ceramide kinase

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:26,849,865...26,905,545
Ensembl chr22:45,749,887...45,786,570

G

choline kinase beta

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,825,128...30,829,203
Ensembl chr22:49,936,470...49,940,625

G

ciliary microtubule associated protein 1B

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,776,765...30,779,060
Ensembl chr22:49,887,093...49,889,488

G

collagen type IV alpha 5 chain

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr X:97,538,978...97,797,019
Ensembl chr X:108,008,689...108,166,095

G

carnitine palmitoyltransferase 1B

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,815,073...30,825,341
Ensembl chr22:49,926,893...49,935,420

G

cysteine rich with EGF like domains 2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,139,539...30,152,462
Ensembl chr22:49,141,973...49,156,375

G

DENN domain containing 6B

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,541,364...30,556,150
Ensembl chr22:49,539,957...49,547,464

G

EF-hand calcium binding domain 6

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:24,414,362...24,700,901
Ensembl chr22:42,608,067...42,893,414

G

family with sequence similarity 118 member A

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:26,195,176...26,227,831
Ensembl chr22:44,388,789...44,406,483

G

fibulin 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:26,390,379...26,488,737
Ensembl chr22:44,582,843...44,666,011

G

GRAM domain containing 4

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:26,789,989...26,877,172
Ensembl chr22:45,687,833...45,745,518

G

G2 and S-phase expressed 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

Ensembl chr22:45,362,777...45,394,920

G

histone deacetylase 10

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,473,753...30,481,369
Ensembl chr22:49,473,369...49,479,216

G

interleukin 17 receptor E like

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,221,096...30,240,052
Ensembl chr22:49,226,640...49,231,051

G

insulin

CTD Direct Evidence: therapeutic

NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666

G

KIAA0930 ortholog

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:26,078,053...26,126,117
Ensembl chr22:44,259,783...44,307,198

G

kelch domain containing 7B

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,792,136...30,797,297

G

lipase maturation factor 2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,749,448...30,754,616
Ensembl chr22:49,859,550...49,864,237

G

protein SCO2 homolog, mitochondrial

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,769,899...30,772,008
Ensembl chr22:49,879,867...49,880,667

G

mitogen-activated protein kinase 11

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,492,664...30,499,456
Ensembl chr22:49,492,693...49,495,732

G

mitogen-activated protein kinase 12

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,481,898...30,490,769
Ensembl chr22:49,481,763...49,489,599

G

mitogen-activated protein kinase 8 interacting protein 2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,846,613...30,857,737
Ensembl chr22:49,957,769...49,966,986

G

malonyl-CoA-acyl carrier protein transacylase

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:24,016,393...24,026,862
Ensembl chr22:42,215,010...42,226,132

G

myo-inositol oxygenase

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,735,206...30,738,738
Ensembl chr22:49,720,339...49,724,370

G

MIR3667 host gene

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:29,860,418...29,898,322

G

modulator of VRAC current 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,287,928...30,316,094
Ensembl chr22:49,289,366...49,315,112

G

Mov10 like RNA helicase 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,320,202...30,391,121
Ensembl chr22:49,319,203...49,389,765

G

metallophosphoesterase domain containing 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:24,296,518...24,392,826
Ensembl chr22:42,498,566...42,585,830

G

non-SMC condensin II complex subunit H2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,754,994...30,771,103
Ensembl chr22:49,873,223...49,881,027

G

nucleoporin 50

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:26,049,671...26,073,847
Ensembl chr22:44,232,743...44,254,913

G

pannexin 2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,398,717...30,408,358
Ensembl chr22:49,404,624...49,408,045

G

parvin beta

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:24,913,710...25,061,603
Ensembl chr22:43,079,786...43,245,932

G

parvin gamma

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:25,073,522...25,098,936
Ensembl chr22:43,263,988...43,287,349

G

PHD finger protein 21B

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:25,773,965...25,907,113
Ensembl chr22:43,959,758...44,088,445

G

Pim-3 proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,186,716...30,190,270

G

polycystin family receptor for egg jelly

ClinVar Annotator: match by term: Phelan-McDermid syndrome

Ensembl chr22:45,321,867...45,333,429

G

plexin B2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,503,884...30,537,082
Ensembl chr22:49,502,489...49,517,613

G

patatin like domain 3, 1-acylglycerol-3-phosphate O-acyltransferase

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:24,812,831...24,836,161
Ensembl chr22:43,004,499...43,027,003

G

patatin like domain 5, triacylglycerol lipase

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:24,753,811...24,780,581
Ensembl chr22:42,959,988...42,972,328

G

peroxisome proliferator activated receptor alpha

ClinVar Annotator: match by term: Phelan-McDermid syndrome

Ensembl chr22:45,218,364...45,302,970

G

protein phosphatase 6 regulatory subunit 2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,572,446...30,690,242
Ensembl chr22:49,600,643...49,674,482

G

proline rich 5

ClinVar Annotator: match by term: Phelan-McDermid syndrome

Ensembl chr22:43,760,203...43,820,836

G

RAB, member of RAS oncogene family like 2B

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:31,007,409...31,023,281

G

RIB43A domain with coiled-coils 2

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:26,299,646...26,335,700
Ensembl chr22:44,479,585...44,501,197

G

retrotransposon Gag like 6

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:25,390,101...25,395,691
Ensembl chr22:43,580,096...43,580,815

G

SAMM50 sorting and assembly machinery component

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:24,844,400...24,886,056
Ensembl chr22:43,035,981...43,076,977

G

SET binding factor 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,691,976...30,723,128
Ensembl chr22:49,676,467...49,704,633

G

signal peptide, CUB domain and EGF like domain containing 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:24,080,438...24,228,401
Ensembl chr22:42,285,374...42,420,761

G

selenoprotein O

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,429,334...30,446,169

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 chr22:30,951,866...30,973,608

G

shisa like 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:25,143,156...25,229,040
Ensembl chr22:43,333,730...43,385,092

G

structural maintenance of chromosomes 1B

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:26,229,904...26,299,559
Ensembl chr22:44,410,118...44,479,513

G

sulfotransferase family 4A member 1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:24,712,960...24,751,078
Ensembl chr22:42,906,959...42,927,236

G

synaptonemal complex central element protein 3

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,797,389...30,809,517
Ensembl chr22:49,908,095...49,913,903

G

TAFA chemokine like family member 5

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:28,675,007...28,943,154

G

TBC1 domain family member 22A

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:26,934,409...27,353,029
Ensembl chr22:45,830,747...46,241,738

G

transcription factor 20

OMIM:606232

NCBI chr22:23,055,704...23,240,003
Ensembl chr22:41,124,871...41,180,013

G

TraB domain containing

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,413,948...30,427,935
Ensembl chr22:49,421,306...49,428,530

G

tRNA mitochondrial 2-thiouridylase

ClinVar Annotator: match by term: Phelan-McDermid syndrome

Ensembl chr22:45,399,506...45,421,439

G

translocator protein

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:24,034,918...24,046,370
Ensembl chr22:42,233,619...42,244,930

G

tetratricopeptide repeat domain 38

ClinVar Annotator: match by term: Phelan-McDermid syndrome

Ensembl chr22:45,333,321...45,360,053

G

TTL family tubulin polyglutamylase complex subunit L1

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:23,924,628...23,973,282
Ensembl chr22:42,128,224...42,174,850

G

tubulin tyrosine ligase like 12

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:24,038,128...24,070,135
Ensembl chr22:42,249,660...42,271,318

G

tubulin tyrosine ligase like 8

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,242,515...30,286,759
Ensembl chr22:49,245,796...49,286,113

G

tubulin gamma complex component 6

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,446,242...30,473,635
Ensembl chr22:49,446,405...49,472,463

G

thymidine phosphorylase

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,772,088...30,776,618

G

uroplakin 3A

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:26,170,186...26,182,100
Ensembl chr22:44,351,511...44,362,863

G

Wnt family member 7B

ClinVar Annotator: match by term: Phelan-McDermid syndrome

Ensembl chr22:44,988,647...45,044,841

G

zinc finger BED-type containing 4

ClinVar Annotator: match by term: Phelan-McDermid syndrome

NCBI chr22:30,075,081...30,111,359

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 chr20:28,647,004...28,727,865
Ensembl chr20:29,774,582...29,850,453

G

lysine methyltransferase 2A

ClinVar Annotator: match by term: Rubinstein Taybi like syndrome

NCBI chr11:113,273,198...113,364,404
Ensembl chr11:117,204,820...117,290,100

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Rubinstein Taybi like syndrome

NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661

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 chr22:22,363,178...22,423,041
Ensembl chr22:40,450,276...40,510,200

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 chr16:2,882,687...3,034,275
Ensembl chr16:4,059,736...4,207,430

G

adenylosuccinate lyase

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:21,249,920...21,271,749
Ensembl chr22:39,068,764...39,389,221

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 chr16:3,995,711...4,009,476
Ensembl chr16:5,158,979...5,173,189

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 chr16:3,621,185...3,659,570
Ensembl chr16:4,788,093...4,820,760

G

apolipoprotein B mRNA editing enzyme catalytic subunit 3A

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:19,866,522...19,872,836

G

apolipoprotein B mRNA editing enzyme catalytic subunit 3B

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:19,892,548...19,902,455
Ensembl chr22:37,711,588...37,721,265

G

apolipoprotein B mRNA editing enzyme catalytic subunit 3C

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:19,924,116...19,930,771
Ensembl chr22:37,743,388...37,749,725

G

apolipoprotein B mRNA editing enzyme catalytic subunit 3D

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:19,931,452...19,942,829

G

apolipoprotein B mRNA editing enzyme catalytic subunit 3G

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:19,977,184...19,994,769

G

apolipoprotein B mRNA editing enzyme catalytic subunit 3H

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:20,003,585...20,010,741
Ensembl chr22:37,821,315...37,828,153

G

activating transcription factor 4

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:20,426,743...20,428,892
Ensembl chr22:38,248,094...38,249,249

G

chromosome 18 C16orf89 homolog

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More...

NCBI chr16:3,967,203...3,990,077
Ensembl chr16:5,132,090...5,153,079

G

chromosome 18 C16orf90 homolog

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More...

NCBI chr16:2,415,638...2,419,093

G

chromosome 18 C16orf96 homolog

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More...

NCBI chr16:3,482,575...3,526,672
Ensembl chr16:4,650,245...4,693,964

G

calcium voltage-gated channel subunit alpha1 I

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:20,463,511...20,595,253
Ensembl chr22:38,296,436...38,414,963

G

chromobox 7

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:20,037,529...20,059,459
Ensembl chr22:37,854,056...37,876,084

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 chr16:3,437,414...3,464,989
Ensembl chr16:4,604,954...4,632,724

G

chondroadherin like

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:22,106,953...22,138,122

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 chr16:2,423,563...2,461,486
Ensembl chr16:3,600,370...3,637,622

G

coronin 7

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More...

NCBI chr16:3,281,481...3,342,937
Ensembl chr16:4,418,006...4,515,038

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 chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206

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 chr16:3,659,525...3,674,557
Ensembl chr16:4,825,030...4,840,117

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 chr16:3,351,825...3,381,914
Ensembl chr16:4,519,965...4,550,786

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 chr22:21,754,641...21,757,204
Ensembl chr22:39,852,079...39,853,008

G

deoxyribonuclease 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More...

NCBI chr16:2,532,281...2,583,408
Ensembl chr16:3,708,189...3,758,615

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 chr16:4,009,227...4,014,944
Ensembl chr16:5,173,979...5,191,174

G

ENTH domain containing 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:20,648,460...20,799,332
Ensembl chr22:38,469,660...38,619,492

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 chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604

G

family with sequence similarity 83 member F

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:20,900,012...20,948,588
Ensembl chr22:38,719,795...38,753,949

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 chr16:3,234,549...3,257,994
Ensembl chr16:4,418,524...4,425,631

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 chr16:3,727,358...3,771,554
Ensembl chr16:4,892,827...4,936,615

G

GRB2 related adaptor protein 2

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:20,831,191...20,878,867
Ensembl chr22:38,651,719...38,696,566

G

heme oxygenase 2

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More...

NCBI chr16:3,399,715...3,436,018
Ensembl chr16:4,567,828...4,604,596

G

L3MBTL histone methyl-lysine binding protein 2

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:22,102,348...22,128,351
Ensembl chr22:40,193,492...40,218,925

G

DNA dC->dU-editing enzyme APOBEC-3F

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:19,950,036...19,966,002

G

melanin concentrating hormone receptor 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

PMID:15706485 PMID:24476420 PMID:28492532

NCBI chr22:21,577,190...21,581,062
Ensembl chr22:39,673,698...39,677,517

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 chr16:2,175,858...2,191,056
Ensembl chr16:3,353,666...3,368,970

G

beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:20,363,244...20,398,471
Ensembl chr22:38,214,029...38,215,630

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 chr16:3,550,352...3,615,693
Ensembl chr16:4,740,763...4,782,638

G

mitochondrial elongation factor 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:20,408,502...20,424,327
Ensembl chr22:38,228,939...38,244,774

G

myocardin related transcription factor A

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:21,314,829...21,536,673
Ensembl chr22:39,413,002...39,467,402

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 chr16:2,366,988...2,409,598
Ensembl chr16:3,543,418...3,586,299

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 chr16:3,948,043...3,957,156
Ensembl chr16:5,112,982...5,121,437

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 chr16:2,463,940...2,487,961
Ensembl chr16:3,637,612...3,674,088

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 chr16:3,386,842...3,399,729

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 chr16:3,615,841...3,620,526
Ensembl chr16:4,785,358...4,786,775

G

presequence translocase associated motor 16

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More...

NCBI chr16:3,243,435...3,248,815
Ensembl chr16:4,418,006...4,515,038

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 chr20:3,924,054...3,959,393
Ensembl chr20:3,723,211...3,757,748

G

platelet derived growth factor subunit B

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883

G

PHD finger protein 5A

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:22,353,811...22,362,899
Ensembl chr22:40,441,275...40,450,174

G

periplakin

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More...

NCBI chr16:3,806,725...3,861,354
Ensembl chr16:4,972,007...5,002,004

G

Ran GTPase activating protein 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:22,142,644...22,199,268
Ensembl chr22:40,233,357...40,272,671

G

ring-box 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

PMID:15706485 PMID:24476420 PMID:28492532

NCBI chr22:21,845,351...21,866,627
Ensembl chr22:39,941,405...39,962,175

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 chr16:3,721,063...3,727,056
Ensembl chr16:4,887,051...4,892,607

G

ribosomal protein L3

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:20,216,370...20,223,259
Ensembl chr22:38,030,039...38,040,992

G

ribosomal protein S19 binding protein 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:20,435,302...20,439,059
Ensembl chr22:38,255,694...38,259,454

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 chr16:3,882,457...3,940,294
Ensembl chr16:5,047,682...5,102,546

G

septin 12

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More...

NCBI chr16:3,701,796...3,713,170
Ensembl chr16:4,867,217...4,877,772

G

small G protein signaling modulator 3

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:21,275,464...21,314,652
Ensembl chr22:39,402,336...39,411,884

G

solute carrier family 25 member 17

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

PMID:15706485 PMID:24476420 PMID:28492532

NCBI chr22:21,665,210...21,714,596
Ensembl chr22:39,761,007...39,810,556

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 chr16:2,502,334...2,532,172
Ensembl chr16:3,678,018...3,707,842

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 chr16:3,719,356...3,720,380
Ensembl chr16:4,884,977...4,885,869

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 chr16:3,107,619...3,161,180

G

ST13 Hsp70 interacting protein

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

PMID:15706485 PMID:24476420 PMID:28492532

NCBI chr22:21,719,713...21,751,912
Ensembl chr22:39,815,337...39,848,049

G

synaptogyrin 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:20,253,936...20,289,470
Ensembl chr22:38,071,261...38,104,931

G

TGF-beta activated kinase 1 (MAP3K7) binding protein 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:20,303,547...20,343,314
Ensembl chr22:38,122,835...38,162,705

G

TEF transcription factor, PAR bZIP family member

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:22,263,607...22,295,750
Ensembl chr22:40,348,770...40,382,724

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 chr16:3,176,129...3,226,404
Ensembl chr16:4,348,929...4,368,525

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 chr16:2,229,601...2,236,195
Ensembl chr16:3,408,055...3,409,704

G

trinucleotide repeat containing adaptor 6B

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:21,149,646...21,240,006
Ensembl chr22:38,850,107...39,045,914

G

transducer of ERBB2, 2

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:22,329,783...22,344,795

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 chr16:2,578,483...2,637,996
Ensembl chr16:3,753,799...3,786,429

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 chr16:3,534,422...3,540,533

G

ubinuclein 1

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More...

NCBI chr16:3,771,623...3,806,575
Ensembl chr16:4,942,191...4,970,986

G

vasorin

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More...

NCBI chr16:3,298,836...3,310,548
Ensembl chr16:4,475,506...4,477,527

G

X-prolyl aminopeptidase 3

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

PMID:15706485 PMID:24476420 PMID:28492532

NCBI chr22:21,752,015...21,827,146
Ensembl chr22:39,848,077...39,915,398

G

zinc finger CCCH-type containing 7B

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2

NCBI chr22:22,198,403...22,256,455
Ensembl chr22:40,286,098...40,343,159

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 chr16:2,324,551...2,332,736
Ensembl chr16:3,501,164...3,509,258

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 chr16:2,217,739...2,232,168
Ensembl chr16:3,395,542...3,404,081

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 chr16:3,673,146...3,692,219
Ensembl chr16:4,839,112...4,857,595

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 chr16:2,355,696...2,366,850
Ensembl chr16:3,532,027...3,543,377

G

zinc finger protein 75A

ClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More...

NCBI chr16:2,236,181...2,249,744
Ensembl chr16:3,414,573...3,427,890

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 chr16:2,305,447...2,324,380
Ensembl chr16:3,482,908...3,497,610

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 chr2B:84,007,630...84,043,700
Ensembl chr2B:201,906,665...201,941,538

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 chr2B:86,518,043...86,720,212
Ensembl chr2B:204,406,887...204,599,539

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:33,967,329...34,374,385
Ensembl chr X:41,659,295...42,066,570

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 chr19:13,468,650...13,493,308

G

glycine decarboxylase

ClinVar Annotator: match by term: Smith-Magenis Syndrome-like

PMID:25741868 PMID:27799067 PMID:28492532

NCBI chr 9:6,347,381...6,456,042
Ensembl chr 9:6,527,242...6,635,779

G

janus kinase and microtubule interacting protein 1

ClinVar Annotator: match by term: Smith-Magenis Syndrome-like

Ensembl chr 4:6,100,985...6,191,991

G

lysine demethylase 5C

ClinVar Annotator: match by term: Smith-Magenis Syndrome-like

PMID:27799067 PMID:28492532

NCBI chr X:45,377,609...45,440,025
Ensembl chr X:53,515,886...53,548,785

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Smith-Magenis Syndrome-like

NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661

G

mitogen-activated protein kinase kinase 2

ClinVar Annotator: match by term: Smith-Magenis Syndrome-like

NCBI chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933

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:143,571,864...143,647,192
Ensembl chr X:153,465,204...153,527,854

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 chr17:33,484,543...33,614,608
Ensembl chr17:38,431,946...38,461,861

G

spermine synthase

ClinVar Annotator: match by term: Smith-Magenis syndrome

NCBI chr X:14,571,432...14,625,601
Ensembl chr X:21,949,830...21,980,209

G

sterol regulatory element binding transcription factor 1

ClinVar Annotator: match by term: Smith-Magenis syndrome

NCBI chr17:33,458,196...33,484,643
Ensembl chr17:38,405,794...38,432,045

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 chr2A:103,049,655...103,065,116
Ensembl chr2A:97,174,322...97,189,171

G

target of myb1 like 2 membrane trafficking protein

ClinVar Annotator: match by term: Smith-Magenis syndrome

NCBI chr17:33,324,590...33,451,688
Ensembl chr17:38,272,362...38,399,178

G

zinc finger E-box binding homeobox 2

ClinVar Annotator: match by term: Smith-Magenis Syndrome-like

NCBI chr2B:15,325,094...15,460,908
Ensembl chr2B:148,460,904...148,596,500

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 chr22:2,521,080...2,541,267

thrombocytopenia-absent radius syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acid phosphatase 6, lysophosphatidic

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 1:123,070,751...123,114,327
Ensembl chr 1:112,417,138...112,459,176

G

ankyrin repeat domain 34A

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 1:121,793,315...121,798,456

G

ankyrin repeat domain 35

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 1:121,871,624...121,891,265
Ensembl chr 1:113,779,221...113,797,541

G

BCL9 transcription coactivator

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 1:122,982,604...123,067,299
Ensembl chr 1:112,463,904...112,478,264

G

chromodomain helicase DNA binding protein 1 like

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 1:122,595,246...122,720,788
Ensembl chr 1:112,809,274...112,862,219

G

flavin containing dimethylaniline monoxygenase 5

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 1:122,605,677...122,648,325
Ensembl chr 1:112,881,859...112,921,194

G

gap junction protein alpha 5

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 1:123,200,111...123,224,626
Ensembl chr 1:112,328,337...112,329,413

G

gap junction protein alpha 8

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 1:123,352,801...123,355,625
Ensembl chr 1:112,174,365...112,177,893

G

G protein-coupled receptor 89A

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 1:122,092,157...122,154,820

G

hemojuvelin BMP co-receptor

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 1:121,738,465...121,742,743
Ensembl chr 1:113,926,383...113,930,761

G

integrin subunit alpha 10

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 1:121,847,420...121,866,560
Ensembl chr 1:113,803,019...113,821,908

G

limb and CNS expressed 1 like

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 1:121,799,811...121,824,492
Ensembl chr 1:113,848,433...113,869,882

G

neuroblastoma breakpoint family member 3

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 1:122,521,697...122,547,069

G

uncharacterized LOC129394575

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

G

nudix hydrolase 17

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 1:121,911,517...121,915,127

G

PDZ domain containing 1

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 1:122,034,097...122,091,823
Ensembl chr 1:113,579,273...113,615,390

G

peroxisomal biogenesis factor 11 beta

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:25741868 More...

NCBI chr 1:121,839,167...121,846,617
Ensembl chr 1:113,821,787...113,830,830

G

protein inhibitor of activated STAT 3

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 1:121,900,224...121,911,513
Ensembl chr 1:113,758,691...113,768,714

G

RNA polymerase III subunit C

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 1:121,917,371...121,935,976
Ensembl chr 1:113,733,846...113,752,486

G

RNA polymerase III subunit GL

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 1:121,781,067...121,793,266
Ensembl chr 1:113,884,899...113,888,690

G

protein kinase AMP-activated non-catalytic subunit beta 2

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 1:122,577,308...122,595,083
Ensembl chr 1:112,934,877...112,952,364

G

RNA binding motif protein 8A

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:9536098 PMID:16501574 PMID:17236129 PMID:17576681 PMID:20301781 More...

NCBI chr 1:121,830,424...121,836,378
Ensembl chr 1:113,834,110...113,839,429

G

ring finger protein 115

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

NCBI chr 1:121,936,054...122,016,273
Ensembl chr 1:113,651,728...113,733,788

G

thioredoxin interacting protein

ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome

PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More...

NCBI chr 1:121,763,312...121,767,468

velocardiofacial syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AIF family member 3

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:3,189,169...3,205,394
Ensembl chr22:19,679,873...19,695,349

G

ARVCF delta catenin family member

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:2,729,706...2,779,034
Ensembl chr22:18,403,239...18,449,183

G

chromosome 23 C22orf39 homolog

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:2,200,164...2,207,473
Ensembl chr22:17,875,330...17,882,694

G

coiled-coil domain containing 188

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

Ensembl chr22:18,582,301...18,585,074

G

cell division cycle 45

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:2,239,040...2,279,807
Ensembl chr22:17,913,729...17,955,195

G

chordin

OMIM:192430

NCBI chr 3:181,417,140...181,460,236
Ensembl chr 3:189,898,856...189,908,573

G

claudin 5

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:2,282,215...2,286,724
Ensembl chr22:17,958,182...17,959,093

G

clathrin heavy chain like 1

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:1,934,948...2,050,159
Ensembl chr22:17,613,828...17,726,231

G

catechol-O-methyltransferase

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387

G

CRK like proto-oncogene, adaptor protein

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:3,141,147...3,177,448
Ensembl chr22:19,632,359...19,668,858

G

DiGeorge syndrome critical region gene 2

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:1,790,899...1,876,983
Ensembl chr22:17,471,360...17,554,161

G

DiGeorge syndrome critical region gene 6

ClinVar Annotator: match by term: 22q11.2 deletion syndrome

NCBI chr22:1,647,018...1,653,326

G

DiGeorge syndrome critical region gene 6 like

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

G

DGCR8 microprocessor complex subunit

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:2,841,041...2,872,325
Ensembl chr22:18,518,783...18,544,740

G

endothelin receptor type A

OMIM:192430

NCBI chr 4:139,815,336...139,879,600
Ensembl chr 4:151,476,356...151,536,497

G

ess-2 splicing factor homolog

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:1,884,790...1,899,081
Ensembl chr22:17,566,021...17,576,686

G

G protein subunit beta 1 like

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:2,542,925...2,616,201
Ensembl chr22:18,222,195...18,289,580

G

glycoprotein Ib platelet subunit beta

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:2,485,350...2,486,688

G

goosecoid homeobox 2

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:1,901,389...1,904,671

G

kelch like family member 22

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

Ensembl chr22:19,122,875...19,174,842

G

protein HIRA

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:2,087,846...2,191,192
Ensembl chr22:17,765,598...17,847,084

G

protein FAM246C

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:1,783,387...1,785,859

G

putative ubiquitin carboxyl-terminal hydrolase 41

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

G

leucine rich repeat containing 74B

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:3,271,045...3,293,410
Ensembl chr22:19,760,186...19,774,303

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 chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007

G

mitogen-activated protein kinase 1

OMIM:192430

NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335

G

mediator complex subunit 15

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

Ensembl chr22:19,192,156...19,271,965

G

mitochondrial ribosomal protein L40

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:2,191,187...2,195,350
Ensembl chr22:17,866,322...17,870,539

G

purinergic receptor P2X 6

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:3,239,019...3,251,966
Ensembl chr22:19,728,644...19,741,078

G

phosphatidylinositol 4-kinase alpha

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:2,931,523...3,082,475

G

prickle planar cell polarity protein 1

OMIM:192430

NCBI chr12:46,127,673...46,262,333
Ensembl chr12:47,100,393...47,126,102

G

proline dehydrogenase 1

ClinVar Annotator: match by term: 22q11.2 deletion syndrome

NCBI chr22:1,654,019...1,678,389

G

RAN binding protein 1

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:2,877,954...2,888,035
Ensembl chr22:18,549,055...18,560,573

G

retrotransposon Gag like 10

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:2,607,363...2,616,113

G

reticulon 4 receptor

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

Ensembl chr22:18,673,548...18,680,017

G

scavenger receptor class F member 2

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

G

septin 5

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:2,476,400...2,485,225
Ensembl chr22:18,150,865...18,159,697

G

serpin family D member 1

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:2,997,480...3,011,469
Ensembl chr22:19,488,733...19,502,380

G

solute carrier family 25 member 1

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:1,931,623...1,934,850
Ensembl chr22:17,609,157...17,612,463

G

solute carrier family 7 member 4

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:3,252,667...3,256,561
Ensembl chr22:19,738,025...19,744,931

G

synaptosome associated protein 29

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:3,082,622...3,115,325
Ensembl chr22:19,572,618...19,605,931

G

transport and golgi organization 2 homolog

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:2,779,217...2,826,445
Ensembl chr22:18,449,387...18,497,886

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 chr22:2,521,080...2,541,267

G

THAP domain containing 7

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:3,223,789...3,226,213
Ensembl chr22:19,713,740...19,716,068

G

trafficking protein particle complex subunit 10

OMIM:192430

NCBI chr21:30,269,085...30,363,396
Ensembl chr21:43,581,617...43,656,740

G

tRNA methyltransferase 2 homolog A

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:2,872,328...2,877,732
Ensembl chr22:18,544,736...18,550,174

G

testis specific serine kinase 2

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:1,885,099...1,887,139
Ensembl chr22:17,563,492...17,564,568

G

thioredoxin reductase 2

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:2,636,703...2,704,082
Ensembl chr22:18,311,714...18,375,497

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 chr22:2,209,590...2,238,449
Ensembl chr22:17,885,073...17,913,506

G

zinc finger DHHC-type palmitoyltransferase 8

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

NCBI chr22:2,891,738...2,894,404

G

zinc finger protein 74

ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome

Ensembl chr22:19,079,769...19,094,835

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 chr11:31,473,439...31,754,446

G

paired box 6

ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome

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

NCBI chr11:31,753,190...31,782,225
Ensembl chr11:31,641,813...31,664,474

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 chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249

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

Ensembl chr 7:80,889,063...80,891,826

G

bromodomain adjacent to zinc finger domain 1B

ClinVar Annotator: match by term: Williams syndrome

Ensembl chr 7:80,594,626...80,675,709

G

BAF chromatin remodeling complex subunit BCL7B

ClinVar Annotator: match by term: Williams syndrome

G

BUD23 rRNA methyltransferase and ribosome maturation factor

ClinVar Annotator: match by term: Williams syndrome

Ensembl chr 7:80,836,518...80,851,497

G

claudin 3

ClinVar Annotator: match by term: Williams syndrome

Ensembl chr 7:80,924,731...80,925,393

G

claudin 4

ClinVar Annotator: match by term: Williams syndrome

Ensembl chr 7:80,983,832...80,984,461

G

CAP-Gly domain containing linker protein 2

ClinVar Annotator: match by term: Williams syndrome

Ensembl chr 7:81,465,901...81,550,422

G

discs large MAGUK scaffold protein 4

CTD Direct Evidence: marker/mechanism
OMIM:194050

NCBI chr17:7,219,911...7,247,509
Ensembl chr17:7,207,483...7,235,985

G

DnaJ heat shock protein family (Hsp40) member C30

ClinVar Annotator: match by term: Williams syndrome

Ensembl chr 7:80,835,722...80,836,402

G

eukaryotic translation initiation factor 4H

ClinVar Annotator: match by term: Williams syndrome

Ensembl chr 7:81,336,947...81,348,585

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

G

FKBP prolyl isomerase family member 6 (inactive)

ClinVar Annotator: match by term: Williams syndrome

Ensembl chr 7:80,481,443...80,511,813

G

frizzled class receptor 3

maps to 2 Mb in chromosome band 7q11.23 deleted in WS

NCBI chr 8:27,773,699...27,853,980
Ensembl chr 8:24,973,644...25,042,115

G

frizzled class receptor 9

ClinVar Annotator: match by term: Williams syndrome

Ensembl chr 7:80,588,167...80,590,337

G

general transcription factor IIi

ClinVar Annotator: match by term: Williams syndrome

Ensembl chr 7:81,831,442...81,901,926

G

GTF2I repeat domain containing 1

ClinVar Annotator: match by term: Williams syndrome

Ensembl chr 7:81,653,515...81,748,951

G

linker for activation of T cells family member 2

ClinVar Annotator: match by term: Williams syndrome

Ensembl chr 7:81,350,666...81,377,115

G

LIM domain kinase 1

ClinVar Annotator: match by term: Williams syndrome

Ensembl chr 7:81,231,876...81,271,282

G

lysyl oxidase

OMIM:194050

NCBI chr 5:117,450,833...117,464,957
Ensembl chr 5:123,234,662...123,248,717

G

methyltransferase like 27

ClinVar Annotator: match by term: Williams syndrome

Ensembl chr 7:80,987,370...80,992,344

G

MLX interacting protein like

ClinVar Annotator: match by term: Williams syndrome

PMID:25741868 PMID:28492532

Ensembl chr 7:80,745,765...80,776,153

G

neutrophil cytosolic factor 1

DNA:deletion

Ensembl chr 7:81,917,167...81,932,589

G

NOP2/Sun RNA methyltransferase 5

ClinVar Annotator: match by term: Williams syndrome

Ensembl chr 7:80,455,353...80,461,316

G

RCC1 like

Ensembl chr 7:82,016,477...82,065,189

G

replication factor C subunit 2

ClinVar Annotator: match by term: Williams syndrome

Ensembl chr 7:81,378,937...81,401,937

G

SRC proto-oncogene, non-receptor tyrosine kinase

OMIM:194050

NCBI chr20:33,667,614...33,727,126
Ensembl chr20:34,822,271...34,839,634

G

syntaxin 1A

ClinVar Annotator: match by term: Williams syndrome

Ensembl chr 7:80,852,495...80,862,255

G

transducin beta like 2

ClinVar Annotator: match by term: Williams syndrome

Ensembl chr 7:80,721,616...80,730,685

G

transmembrane protein 270

ClinVar Annotator: match by term: Williams syndrome

Ensembl chr 7:81,011,217...81,016,100

G

tripartite motif containing 50

ClinVar Annotator: match by term: Williams syndrome

G

VPS37D subunit of ESCRT-I

ClinVar Annotator: match by term: Williams syndrome

Ensembl chr 7:80,798,226...80,824,883

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 4:889,037...930,046
Ensembl chr 4:819,833...858,953

G

C-terminal binding protein 1

ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome

PMID:25741868 PMID:28492532

NCBI chr 4:1,354,806...1,393,244
Ensembl chr 4:1,238,984...1,266,822

G

fibroblast growth factor receptor like 1

ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome

PMID:25741868 PMID:28492532

NCBI chr 4:1,125,623...1,142,884
Ensembl chr 4:1,045,583...1,059,936

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 4:1,953,033...1,994,958
Ensembl chr 4:1,862,788...1,900,901

G

msh homeobox 1

CTD Direct Evidence: marker/mechanism

Ensembl chr 4:4,935,600...4,939,079

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 4:2,009,276...2,119,182
Ensembl chr 4:1,945,307...2,027,425

G

NUF2 component of NDC80 kinetochore complex

ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome

NCBI chr 1:138,743,251...138,777,201
Ensembl chr 1:142,538,420...142,572,364

Term paths to the root

Path 1
Term	Annotations
disease	15830
Pathological Conditions, Signs and Symptoms	12331
Pathologic Processes	7780
Chromosome Aberrations	2835
Aneuploidy	1951
Monosomy	1685
Chromosome 18 Mosaic Monosomy	0
Chromosome Deletion +	1685

paths to the root