chromosomal duplication syndrome - 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:	chromosomal duplication syndrome	go back to main search page
Accession:	DOID:0060429	browse the term
Definition:	A chromosomal disease that has_material_basis_in extra copies of a chromosomal region. (DO)
Synonyms:	exact_synonym:	Chromosomal Duplication; Chromosome Duplication; chromosomal duplications; chromosome duplications
	primary_id:	MESH:D058674

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Rat (1105) Mouse (1124) Human (2635) Chinchilla (987) Bonobo (1135) Dog (1110) Squirrel (1018) Pig (1091) Green Monkey (1091) Naked Mole-rat (972) All
Genes (1105)

autosomal dominant nonsyndromic deafness 51

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tight junction protein 2

ClinVar Annotator: match by term: Deafness, autosomal dominant 51

NCBI chr 1:221,709,745...221,838,291
Ensembl chr 1:221,709,745...221,838,295

Chromosome 11, Partial Trisomy 11q

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:1,453,226...1,463,990
Ensembl chr 8:1,452,282...1,463,966

G

ATP binding cassette subfamily G member 4

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,611,187...44,629,818
Ensembl chr 8:44,611,187...44,626,881

G

acyl-CoA dehydrogenase family, member 8

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414

G

acetyl-CoA acetyltransferase 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855

G

acrosomal vesicle protein 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:36,404,394...36,409,971
Ensembl chr 8:36,404,394...36,424,959

G

ADAM metallopeptidase with thrombospondin type 1 motif, 15

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:29,307,864...29,331,249
Ensembl chr 8:29,307,865...29,331,249

G

ADAM metallopeptidase with thrombospondin type 1 motif, 8

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:29,349,078...29,368,413
Ensembl chr 8:29,349,114...29,368,404

G

ALG9, alpha-1,2-mannosyltransferase

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261

G

alkB homolog 8, tRNA methyltransferase

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 6:378,779...449,382
Ensembl chr 6:378,100...452,165

G

ankyrin repeat and kinase domain containing 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:49,779,862...49,788,024
Ensembl chr 8:49,779,862...49,788,024

G

amyloid beta precursor like protein 2

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:29,599,230...29,662,311
Ensembl chr 8:29,599,230...29,661,855

G

apolipoprotein A1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035

G

apolipoprotein A4

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469

G

apolipoprotein A5

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816

G

apolipoprotein C3

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583

G

archain 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247

G

Rho GTPase activating protein 20

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:52,074,472...52,155,739
Ensembl chr 8:52,074,158...52,155,739

G

Rho GTPase activating protein 32

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:30,421,269...30,681,653
Ensembl chr 8:30,421,515...30,678,454

G

Rho guanine nucleotide exchange factor 12

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:43,350,070...43,475,404
Ensembl chr 8:43,353,799...43,476,366

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

ATP synthase membrane subunit G

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:45,225,680...45,233,630
Ensembl chr 8:45,225,686...45,233,559

G

beta-1,3-glucuronyltransferase 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:25,087,123...25,114,692
Ensembl chr 8:25,087,547...25,113,395

G

beta-secretase 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876

G

BARX homeobox 2

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:30,251,132...30,319,105
Ensembl chr 8:30,251,132...30,319,013

G

BCL9 like

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611

G

beta-carotene oxygenase 2

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:50,882,174...50,907,676
Ensembl chr 8:50,882,181...50,915,467

G

brain specific homeobox

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:41,254,105...41,257,861
Ensembl chr 8:41,254,105...41,257,861

G

BTG anti-proliferation factor 4

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:51,410,774...51,425,802
Ensembl chr 8:51,422,061...51,425,796

G

BUD13 homolog

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:46,575,124...46,590,964
Ensembl chr 8:46,575,115...46,590,958

G

C1q and TNF related 5

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074

G

C2CD2-like

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,648,074...44,658,856
Ensembl chr 8:44,648,079...44,658,340

G

similar to human chromosome 11 open reading frame 52

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:51,081,342...51,088,333
Ensembl chr 8:51,081,342...51,094,533

G

similar to human chromosome 11 open reading frame 65

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748

G

similar to human chromosome 11 open reading frame 71

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:48,838,556...48,838,970
Ensembl chr 8:48,838,100...48,842,270

G

similar to human chromosome 11 open reading frame 87

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:53,062,361...53,069,882
Ensembl chr 8:53,062,360...53,069,538

G

cell adhesion molecule 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:47,847,836...48,178,703
Ensembl chr 8:47,847,325...48,182,833

G

caspase 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383

G

caspase 12

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037

G

caspase 4

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:2,599,017...2,635,097
Ensembl chr 8:2,598,876...2,635,092

G

Cbl proto-oncogene

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176

G

coiled-coil domain containing 15

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:36,991,147...37,068,849
Ensembl chr 8:36,998,867...37,068,919

G

CD3 delta subunit of T-cell receptor complex

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809

G

CD3 epsilon subunit of T-cell receptor complex

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:45,303,848...45,315,005
Ensembl chr 8:45,303,852...45,315,022

G

CD3 gamma subunit of T-cell receptor complex

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147

G

cell adhesion associated, oncogene regulated

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033

G

centrosomal AT-AC splicing factor

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837

G

centrosomal protein 164

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:46,070,901...46,134,511
Ensembl chr 8:46,071,076...46,134,336

G

cilia and flagella associated protein 68

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:51,107,663...51,113,192
Ensembl chr 8:51,107,721...51,113,420

G

checkpoint kinase 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:36,420,565...36,443,477
Ensembl chr 8:36,420,569...36,441,009

G

claudin 25

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:49,391,930...49,392,664
Ensembl chr 8:49,391,975...49,392,664

G

CXADR-like membrane protein

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:41,060,527...41,168,841
Ensembl chr 8:41,060,799...41,168,838

G

cytotoxic and regulatory T cell molecule

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:41,340,117...41,377,381
Ensembl chr 8:41,340,837...41,377,343

G

crystallin, alpha B

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157

G

cullin 5

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:54,012,963...54,066,751
Ensembl chr 8:54,016,006...54,066,666

G

CWF19 like cell cycle control factor 2

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 6:290,148...356,636
Ensembl chr 6:281,685...356,604

G

C-X-C motif chemokine receptor 5

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893

G

decapping enzyme, scavenger

ClinVar Annotator: match by term: Distal trisomy 11q

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

G

DEAD-box helicase 10

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:53,488,656...53,643,373
Ensembl chr 8:53,488,656...53,643,373

G

DEAD-box helicase 25

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:33,894,224...33,910,377
Ensembl chr 8:33,894,232...33,921,764

G

DEAD-box helicase 6

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405

G

DIX domain containing 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:51,007,835...51,081,191
Ensembl chr 8:51,007,838...51,081,090

G

dihydrolipoamide S-acetyltransferase

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479

G

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087

G

dynein regulatory complex subunit 12 homolog

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:44,577,836...44,584,338

G

dopamine receptor D2

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875

G

DS cell adhesion molecule-like 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:45,740,298...46,057,322
Ensembl chr 8:45,740,298...46,057,320

G

EI24, autophagy associated transmembrane protein

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:36,494,289...36,510,653
Ensembl chr 8:36,494,289...36,510,571

G

ELMO domain containing 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:54,298,363...54,355,348
Ensembl chr 8:54,298,363...54,355,140

G

endothelial cell adhesion molecule

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:37,238,228...37,249,217
Ensembl chr 8:37,238,287...37,249,215

G

ETS proto-oncogene 1, transcription factor

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:31,045,909...31,168,010
Ensembl chr 8:31,045,945...31,168,010

G

exophilin 5

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:53,698,825...53,775,371
Ensembl chr 8:53,698,852...53,773,169

G

family with sequence similarity 118, member B

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:33,566,681...33,617,310
Ensembl chr 8:33,566,669...33,617,270

G

ferredoxin 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:52,268,536...52,287,344
Ensembl chr 8:52,268,536...52,287,414

G

ferredoxin-fold anticodon binding domain containing 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:51,111,831...51,118,253
Ensembl chr 8:51,113,397...51,118,308

G

fasciculation and elongation protein zeta 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:36,544,462...36,589,684
Ensembl chr 8:36,544,535...36,589,683

G

Fli-1 proto-oncogene, ETS transcription factor

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433

G

forkhead box R1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880

G

FAD-dependent oxidoreductase domain containing 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192

G

FXYD domain-containing ion transport regulator 2

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:45,712,901...45,720,032
Ensembl chr 8:45,712,903...45,720,203

G

FXYD domain-containing ion transport regulator 6

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:45,679,054...45,705,958
Ensembl chr 8:45,678,885...45,705,958

G

galactosidase, beta 1-like 2

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:25,115,462...25,166,843
Ensembl chr 8:25,115,462...25,166,783

G

galactosidase, beta 1-like 3

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:25,179,165...25,220,904
Ensembl chr 8:25,179,165...25,220,904

G

GRAM domain containing 1B

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:40,654,492...40,893,869
Ensembl chr 8:40,659,182...40,893,925

G

glutamate ionotropic receptor AMPA type subunit 4

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:1,562,118...2,035,035
Ensembl chr 8:1,562,119...2,034,979

G

glutamate ionotropic receptor kainate type subunit 4

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:42,903,043...43,331,990
Ensembl chr 8:42,905,056...43,193,751

G

guanylate cyclase 1 soluble subunit alpha 2

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203

G

H2A.X variant histone

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239

G

hepatic and glial cell adhesion molecule

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920

G

histone H4 transcription factor

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,634,333...44,644,288
Ensembl chr 8:44,634,333...44,641,000

G

hydroxymethylbilane synthase

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957

G

HOATZ cilia and flagella associated protein

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:51,385,931...51,409,796
Ensembl chr 8:51,388,382...51,412,514

G

heat shock protein family A (Hsp70) member 8

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259

G

heat shock protein family B (small) member 2

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:51,093,267...51,094,528
Ensembl chr 8:51,081,342...51,094,533

G

5-hydroxytryptamine receptor 3A

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:49,242,018...49,254,475
Ensembl chr 8:49,242,020...49,254,389

G

5-hydroxytryptamine receptor 3B

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:49,279,291...49,308,444
Ensembl chr 8:49,279,173...49,308,444

G

HYLS1, centriolar and ciliogenesis associated

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:33,912,692...33,921,760
Ensembl chr 8:33,912,692...33,921,760

G

hypoxia up-regulated 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186

G

intraflagellar transport 46

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052

G

immunoglobulin superfamily, member 9B

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:25,712,644...25,769,481
Ensembl chr 8:25,712,644...25,758,554

G

interleukin 10 receptor subunit alpha

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061

G

interleukin 18

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

junctional adhesion molecule 3

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355

G

junction adhesion molecule like

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565

G

junctional cadherin complex regulator

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:41,276,501...41,333,383
Ensembl chr 8:41,276,491...41,333,514

G

kelch repeat and BTB domain containing 3

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:1,464,162...1,491,144
Ensembl chr 8:1,473,247...1,487,943

G

potassium inwardly-rectifying channel, subfamily J, member 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796

G

potassium inwardly-rectifying channel, subfamily J, member 5

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518

G

kirre like nephrin family adhesion molecule 3

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:32,865,779...33,407,555
Ensembl chr 8:32,862,776...33,405,676

G

lysine methyltransferase 2A

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181

G

layilin

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:51,363,928...51,384,748
Ensembl chr 8:51,367,091...51,384,330

G

olfactory receptor 49-like

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 1:65,911,907...65,913,255
Ensembl chr 1:65,912,105...65,913,079

G

melanoma cell adhesion molecule

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571

G

membrane frizzled-related protein

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859

G

microRNA 100

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:41,901,225...41,901,304
Ensembl chr 8:41,901,225...41,901,304

G

microRNA 125b-1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:41,952,966...41,953,052
Ensembl chr 8:41,952,966...41,953,052

G

microRNA 34b

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327

G

microRNA 34c

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802

G

myelin protein zero-like 2

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298

G

myelin protein zero-like 3

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662

G

Myb/SANT DNA binding domain containing 2

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:37,200,890...37,234,691
Ensembl chr 8:37,200,260...37,234,476

G

Myb/SANT DNA binding domain containing 4 with coiled-coils

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:1,516,979...1,527,587
Ensembl chr 8:1,516,979...1,527,587

G

neural cell adhesion molecule 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014

G

non-SMC condensin II complex, subunit D3

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:25,437,067...25,506,375
Ensembl chr 8:25,437,123...25,506,373

G

nectin cell adhesion molecule 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787

G

nuclear factor related to kappa B binding protein

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:29,831,802...29,863,360
Ensembl chr 8:29,831,812...29,863,359

G

NHERF family PDZ scaffold protein 4

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:44,584,390...44,588,860

G

NKAP domain containing 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:50,955,650...50,966,915
Ensembl chr 8:50,955,654...50,966,830

G

NLR family member X1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484

G

nicotinamide N-methyltransferase

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:48,928,663...48,947,734
Ensembl chr 8:48,933,598...48,946,655

G

nuclear protein, co-activator of histone transcription

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:53,932,993...53,970,875
Ensembl chr 8:53,932,993...53,970,875

G

neurogranin

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:37,255,462...37,263,659
Ensembl chr 8:37,256,930...37,257,516

G

neurotrimin

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:27,376,582...28,366,604
Ensembl chr 8:27,377,773...28,366,595

G

neurexophilin and PC-esterase domain family, member 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:48,749,250...48,773,762
Ensembl chr 8:48,751,014...48,785,353

G

neurexophilin and PC-esterase domain family, member 2

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:48,661,708...48,695,555
Ensembl chr 8:48,661,708...48,698,035

G

neurexophilin and PC-esterase domain family member 4

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:48,502,697...48,744,101
Ensembl chr 8:48,722,440...48,744,100

G

out at first homolog

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:43,594,362...43,612,334
Ensembl chr 8:43,594,363...43,612,334

G

olfactory receptor 1271

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:39,127,409...39,131,889
Ensembl chr 8:39,127,352...39,131,900

G

opioid binding protein/cell adhesion molecule-like

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:26,788,988...27,304,551
Ensembl chr 8:26,192,841...27,300,620

G

olfactory receptor family 10 subfamily G member 9

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:40,352,436...40,353,371
Ensembl chr 8:40,352,436...40,353,371

G

olfactory receptor family 10 subfamily G member 9B

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:40,358,211...40,359,143
Ensembl chr 8:40,357,714...40,361,692

G

olfactory receptor family 10 subfamily S member 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:40,377,018...40,378,068
Ensembl chr 8:40,377,103...40,378,068

G

olfactory receptor family 4 subfamily D member 5

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:40,423,865...40,424,809
Ensembl chr 8:40,423,865...40,424,809

G

olfactory receptor family 6 subfamily X member 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:40,538,157...40,539,095
Ensembl chr 8:40,533,033...40,541,586

G

olfactory receptor family 8 subfamily A member 1B

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:37,434,903...37,435,832
Ensembl chr 8:37,434,551...37,439,746

G

olfactory receptor family 8 subfamily B member 12

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:37,479,706...37,480,638
Ensembl chr 8:37,478,794...37,481,315

G

olfactory receptor family 8 subfamily B member 3

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:38,521,915...38,522,856
Ensembl chr 8:38,520,758...38,522,936

G

olfactory receptor family 8 subfamily B member 4

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:37,720,158...37,721,087

G

olfactory receptor family 8 subfamily B member 8

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:37,693,578...37,694,510
Ensembl chr 8:37,693,499...37,694,547

G

olfactory receptor family 8 subfamily D member 4

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:40,469,997...40,470,932
Ensembl chr 8:40,469,997...40,470,932

G

olfactory receptor family 8 subfamily G member 17D

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:39,180,564...39,181,499
Ensembl chr 8:39,180,079...39,184,720

G

olfactory receptor family 8 subfamily G member 30

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:39,613,311...39,614,246
Ensembl chr 8:39,613,126...39,618,924

G

platelet-activating factor acetylhydrolase 1b, catalytic subunit 2

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:46,260,069...46,312,073
Ensembl chr 8:46,261,064...46,279,833

G

pannexin 3

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:37,366,758...37,377,640
Ensembl chr 8:37,366,862...37,377,640

G

prostate and testis expressed 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:34,048,410...34,050,867
Ensembl chr 8:34,048,617...34,050,848

G

prostate and testis expressed 2

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:34,019,123...34,026,850
Ensembl chr 8:34,024,114...34,050,517

G

prostate and testis expressed 3

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:34,014,164...34,016,175
Ensembl chr 8:34,014,164...34,016,175

G

prostate and testis expressed 4

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:33,988,812...33,991,552
Ensembl chr 8:33,988,812...33,991,552

G

proprotein convertase subtilisin/kexin type 7

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705

G

pleckstrin homology-like domain, family B, member 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:45,003,543...45,051,541
Ensembl chr 8:45,003,538...45,051,522

G

PIH1 domain containing 2

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656

G

PBX/knotted 1 homeobox 2

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:36,600,633...36,863,131
Ensembl chr 8:36,600,636...36,790,940

G

placenta expressed transcript 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:50,842,242...50,853,666
Ensembl chr 8:50,841,854...50,853,659

G

protein O-glucosyltransferase 3

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:53,777,614...53,795,404
Ensembl chr 8:53,777,785...53,795,399

G

POU class 2 homeobox associating factor 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:51,521,813...51,548,819
Ensembl chr 8:51,474,015...51,548,819

G

POU class 2 homeobox associating factor 2

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:51,607,780...51,648,790
Ensembl chr 8:51,607,763...51,648,628

G

POU class 2 homeobox associating factor 3

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:51,588,237...51,597,114
Ensembl chr 8:51,588,237...51,603,855

G

POU class 2 homeobox 3

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:43,495,408...43,577,795
Ensembl chr 8:43,495,527...43,577,795

G

protein phosphatase 2 scaffold subunit A beta

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:51,195,860...51,228,442
Ensembl chr 8:51,186,717...51,228,485

G

PR/SET domain 10

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:29,724,011...29,827,757
Ensembl chr 8:29,724,245...29,826,080

G

6-pyruvoyl-tetrahydropterin synthase

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:50,870,838...50,877,869
Ensembl chr 8:50,870,841...50,877,869

G

pseudouridine synthase 3

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714

G

RAB39A, member RAS oncogene family

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:54,088,246...54,105,867
Ensembl chr 8:54,088,129...54,106,483

G

RNA binding motif protein 7

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:48,831,894...48,838,399
Ensembl chr 8:48,831,894...48,838,411

G

radixin

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678

G

RNA exonuclease 2

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:48,811,900...48,823,622
Ensembl chr 8:48,811,900...48,823,622

G

ring finger protein 214

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:46,166,269...46,202,048
Ensembl chr 8:46,166,598...46,201,576

G

ring finger protein 26

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,454,551...44,456,745
Ensembl chr 8:44,454,292...44,457,331

G

roundabout guidance receptor 3

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315

G

roundabout guidance receptor 4

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:37,119,953...37,133,887
Ensembl chr 8:37,119,988...37,132,519

G

ribosomal protein s25

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271

G

RNA pseudouridine synthase D4

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:33,617,384...33,626,873
Ensembl chr 8:33,617,379...33,626,873

G

sterol-C5-desaturase

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273

G

sodium voltage-gated channel beta subunit 2

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765

G

sodium voltage-gated channel beta subunit 3

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:40,630,372...40,652,869
Ensembl chr 8:40,630,455...40,652,868

G

sodium voltage-gated channel beta subunit 4

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292

G

succinate dehydrogenase complex subunit D

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238

G

sialic acid acetylesterase

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:37,318,724...37,354,004
Ensembl chr 8:37,318,747...37,353,996

G

SID1 transmembrane family, member 2

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:46,232,379...46,248,913
Ensembl chr 8:46,232,383...46,248,700

G

salt-inducible kinase 2

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:51,225,543...51,325,343
Ensembl chr 8:51,225,543...51,325,415

G

SIK family kinase 3

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:46,312,253...46,522,444
Ensembl chr 8:46,311,989...46,522,444

G

solute carrier family 35, member F2

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:54,159,970...54,203,614
Ensembl chr 8:54,159,970...54,203,612

G

solute carrier family 37 member 2

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:36,945,787...36,971,748
Ensembl chr 8:36,946,930...36,971,482

G

solute carrier family 37 member 4

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301

G

sarcolipin

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:54,221,389...54,248,110
Ensembl chr 8:54,243,542...54,247,791

G

sorting nexin 19

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:28,829,881...28,867,600
Ensembl chr 8:28,829,886...28,867,061

G

sortilin related receptor 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513

G

sperm autoantigenic protein 17

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:37,307,432...37,318,519
Ensembl chr 8:37,307,557...37,318,639

G

spermatogenesis associated 19

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:25,814,922...25,820,663
Ensembl chr 8:25,814,905...25,820,670

G

SRP receptor subunit alpha

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:33,560,365...33,566,458
Ensembl chr 8:33,560,348...33,566,470

G

ST14 transmembrane serine protease matriptase

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517

G

ST3 beta-galactoside alpha-2,3-sialyltransferase 4

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:33,415,666...33,465,319
Ensembl chr 8:33,415,671...33,524,389

G

STT3 oligosaccharyltransferase complex catalytic subunit A

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:36,443,623...36,483,111
Ensembl chr 8:36,446,788...36,483,293

G

transgelin

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668

G

tubulin folding cofactor E-like

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:42,795,648...42,854,552
Ensembl chr 8:42,796,730...42,854,552

G

transforming growth factor beta regulator 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:37,355,274...37,362,933
Ensembl chr 8:37,354,658...37,362,930

G

tectorin alpha

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707

G

testis expressed 12

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:50,908,161...50,913,202
Ensembl chr 8:50,909,052...50,913,217

G

Thy-1 cell surface antigen

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,389,495...44,394,688
Ensembl chr 8:44,389,513...44,394,659

G

thymocyte nuclear protein 1

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:25,406,563...25,415,445
Ensembl chr 8:25,406,500...25,415,445

G

translocase of inner mitochondrial membrane 8 homolog B

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:50,954,350...50,955,730
Ensembl chr 8:50,954,342...50,955,729

G

TIR domain containing adaptor protein

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:33,531,724...33,548,508
Ensembl chr 8:33,531,725...33,547,432

G

TLC domain containing 5

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:43,481,388...43,486,288
Ensembl chr 8:43,479,016...43,486,290

G

transmembrane protein 218

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927

G

transmembrane protein 225

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:40,497,483...40,500,041
Ensembl chr 8:40,497,483...40,500,041

G

transmembrane protein 25

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389

G

transmembrane protein 45b

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:29,865,276...29,910,453
Ensembl chr 8:29,865,278...29,910,453

G

transmembrane serine protease 13

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:45,625,759...45,653,943
Ensembl chr 8:45,625,626...45,653,938

G

transmembrane serine protease 4

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:45,475,819...45,508,409
Ensembl chr 8:45,476,053...45,508,409

G

transmembrane serine protease 5

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:49,437,321...49,461,395
Ensembl chr 8:49,441,984...49,460,071

G

trafficking protein particle complex subunit 4

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491

G

trehalase

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540

G

tripartite motif-containing 29

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:43,682,221...43,706,992
Ensembl chr 8:43,682,221...43,706,992

G

tetratricopeptide repeat domain 12

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:49,799,916...49,847,940
Ensembl chr 8:49,799,920...49,847,087

G

tetratricopeptide repeat domain 36

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:45,112,737...45,116,345

G

ubiquitin associated and SH3 domain containing, B

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:41,385,419...41,532,248
Ensembl chr 8:41,388,341...41,532,201

G

ubiquitination factor E4A

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038

G

uroplakin 2

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190

G

ubiquitin specific peptidase 2

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,411,457...44,439,668
Ensembl chr 8:44,411,607...44,438,331

G

ubiquitin specific peptidase 28

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:49,325,766...49,386,229
Ensembl chr 8:49,325,867...49,386,229

G

VPS11 core subunit of CORVET and HOPS complexes

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:44,684,129...44,698,568
Ensembl chr 8:44,684,127...44,698,568

G

VPS26 retromer complex component B

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:25,415,877...25,436,985
Ensembl chr 8:25,415,261...25,436,985

G

V-set and immunoglobulin domain containing 2

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:37,250,107...37,255,150
Ensembl chr 8:37,250,107...37,255,150

G

von Willebrand factor A domain containing 5A

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:38,815,176...38,848,674
Ensembl chr 8:38,815,210...38,839,112

G

zinc finger and BTB domain containing 16

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:48,989,376...49,177,011
Ensembl chr 8:48,994,566...49,177,011

G

zinc finger and BTB domain containing 44

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:29,466,055...29,524,027
Ensembl chr 8:29,466,352...29,518,163

G

zinc finger CCCH type containing 12C

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:52,443,791...52,508,643
Ensembl chr 8:52,448,320...52,504,315

G

zinc finger protein 202

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:40,542,665...40,567,397
Ensembl chr 8:40,542,701...40,563,118

G

ZPR1 zinc finger

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:46,564,898...46,574,719
Ensembl chr 8:46,565,146...46,574,719

G

zw10 kinetochore protein

ClinVar Annotator: match by term: Distal trisomy 11q

NCBI chr 8:49,396,541...49,424,743
Ensembl chr 8:49,396,545...49,421,805

chromosome 16p11.2 duplication syndrome

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: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182

G

aldolase 1 A retrogene 2

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709

G

aspartate beta-hydroxylase domain containing 1

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,552,968...181,556,902
Ensembl chr 1:181,552,884...181,556,090

G

similar to human chromosome 16 open reading frame 54

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,702,447...181,705,128
Ensembl chr 1:181,702,503...181,705,835

G

similar to human chromosome 16 open reading frame 92

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,434,524...181,441,000

G

CDP-diacylglycerol--inositol 3-phosphatidyltransferase

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,583,098...181,587,409
Ensembl chr 1:181,583,141...181,587,408

G

CDIP transferase, opposite strand

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,579,385...181,583,017
Ensembl chr 1:181,579,387...181,582,860

G

coronin 1A

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534

G

double C2 domain alpha

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,457,415...181,462,528
Ensembl chr 1:181,458,390...181,462,030

G

glycerophosphodiester phosphodiesterase domain containing 3

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063

G

HIRA interacting protein 3

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,472,537...181,475,082
Ensembl chr 1:181,472,056...181,475,079

G

INO80 complex subunit E

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,461,406...181,472,059
Ensembl chr 1:181,461,408...181,472,469

G

potassium channel tetramerization domain containing 13

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,534,534...181,552,843
Ensembl chr 1:181,534,515...181,552,881

G

kinesin family member 22

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401

G

mitogen activated protein kinase 3

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863

G

MYC associated zinc finger protein

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,629,742...181,635,193
Ensembl chr 1:181,629,729...181,650,408

G

major vault protein

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380

G

Paxip1-associated glutamate-rich protein 1

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,622,698...181,625,024

G

protein phosphatase 4, catalytic subunit

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,392,899...181,399,703
Ensembl chr 1:181,392,923...181,399,659

G

proline-rich transmembrane protein 2

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,625,243...181,628,833
Ensembl chr 1:181,604,545...181,628,850

G

quinolinate phosphoribosyltransferase

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,718,189...181,733,486
Ensembl chr 1:181,718,190...181,733,486

G

seizure related 6 homolog like 2

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,557,109...181,577,456
Ensembl chr 1:181,557,109...181,577,456

G

sialophorin

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,746,937...181,759,564
Ensembl chr 1:181,746,429...181,759,628

G

TAO kinase 2

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,475,708...181,494,738
Ensembl chr 1:181,475,711...181,494,613

G

T-box transcription factor 6

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593

G

TLC domain containing 3B

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743

G

transmembrane protein 219

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,496,195...181,509,259
Ensembl chr 1:181,496,192...181,534,472

G

yippee-like 3

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,384,385...181,387,706
Ensembl chr 1:181,384,357...181,387,705

G

zymogen granule protein 16

ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome

NCBI chr 1:181,657,722...181,660,079
Ensembl chr 1:181,657,722...181,660,079

chromosome 17p13.3 duplication syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ABR activator of RhoGEF and GTPase

ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome

NCBI chr10:61,262,516...61,461,331
Ensembl chr10:61,262,516...61,461,505

G

basic helix-loop-helix family, member a9

ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome

NCBI chr10:61,513,609...61,514,730
Ensembl chr10:61,513,609...61,514,301

G

CRK proto-oncogene, adaptor protein

ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome

NCBI chr10:60,530,469...60,556,703
Ensembl chr10:60,530,464...60,553,406

G

trafficking regulator of GLUT4 (SLC2A4) 1

ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome

NCBI chr10:61,521,107...61,541,494
Ensembl chr10:61,521,107...61,541,494

G

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

ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome

NCBI chr10:60,584,665...60,622,352
Ensembl chr10:60,584,652...60,671,589

chromosome 1q21.1 duplication 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 duplication syndrome

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

G

BCL9, transcription coactivator

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

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

G

chromodomain helicase DNA binding protein 1-like

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

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

G

flavin containing dimethylaniline monoxygenase 5

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

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

G

gap junction protein, alpha 5

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

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

G

gap junction protein, alpha 8

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

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

G

G protein-coupled receptor 89B

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

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

G

U1 spliceosomal RNA

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

NCBI chr18:79,901,335...79,901,477
Ensembl chr18:79,901,335...79,901,477
Ensembl chr18:79,901,335...79,901,477

G

protein kinase AMP-activated non-catalytic subunit beta 2

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

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

chromosome 22q11.2 microduplication syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apoptosis inducing factor, mitochondria associated 3

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:83,504,859...83,523,630
Ensembl chr11:83,504,861...83,521,248

G

ARVCF, delta catenin family member

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805

G

similar to human chromosome 22 open reading frame 39

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235

G

coiled-coil domain containing 188

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:82,769,735...82,772,062
Ensembl chr11:82,769,473...82,772,114

G

cell division cycle 45

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619

G

claudin 5

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992

G

catechol-O-methyltransferase

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642

G

CRK like proto-oncogene, adaptor protein

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238

G

DiGeorge syndrome critical region gene 2

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502

G

DGCR8 microprocessor complex subunit

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242

G

ess-2 splicing factor homolog

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846

G

G protein subunit beta 1 like

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466

G

glycoprotein Ib platelet subunit beta

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392

G

goosecoid homeobox 2

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126

G

histone cell cycle regulator

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529

G

kelch-like family member 22

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770

G

protein FAM246A-like

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:83,150,952...83,151,644
Ensembl chr11:83,150,952...83,151,644

G

leucine rich repeat containing 74B

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:83,450,588...83,468,906
Ensembl chr11:83,450,624...83,468,922

G

leucine zipper like post translational regulator 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633

G

mediator complex subunit 15

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362

G

microRNA 1306

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719

G

microRNA 185

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795

G

mitochondrial ribosomal protein L40

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233

G

purinergic receptor P2X 6

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:83,439,922...83,450,449
Ensembl chr11:83,439,924...83,450,481

G

phosphatidylinositol 4-kinase alpha

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080

G

RAN binding protein 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838

G

reticulon 4 receptor

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:82,844,309...82,869,251
Ensembl chr11:82,844,309...82,869,466

G

scavenger receptor class F, member 2

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348

G

septin 5

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393

G

serpin family D member 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519

G

solute carrier family 25 member 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781

G

solute carrier family 7, member 4

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:83,435,093...83,439,078
Ensembl chr11:83,435,211...83,438,881

G

synaptosome associated protein 29

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958

G

small nucleolar RNA, H/ACA box 77B

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:82,749,967...82,750,091
Ensembl chr11:82,749,967...82,750,091

G

transport and golgi organization 2 homolog

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574

G

T-box transcription factor 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380

G

THAP domain containing 7

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:83,482,958...83,486,136
Ensembl chr11:83,483,037...83,486,436

G

tRNA methyltransferase 2 homolog A

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:82,737,689...82,742,423
Ensembl chr11:82,737,689...82,742,336

G

testis-specific serine kinase 2

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:83,086,578...83,087,933

G

thioredoxin reductase 2

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156

G

ubiquitin recognition factor in ER associated degradation 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087

G

WAP four-disulfide core domain 21

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701

G

zinc finger DHHC-type palmitoyltransferase 8

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr11:82,755,110...82,769,280
Ensembl chr11:82,755,143...82,767,734

G

zinc finger, imprinted 1

ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome

PMID:25741868 PMID:31690835

NCBI chr 1:67,132,076...67,157,843
Ensembl chr 1:67,132,147...67,153,761

chromosome 22q13 duplication syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acrosin

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,636,581...120,644,474
Ensembl chr 7:120,638,321...120,644,474

G

adrenomedullin 2

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,393,179...120,394,965
Ensembl chr 7:120,393,179...120,396,331

G

ALG12, alpha-1,6-mannosyltransferase

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:119,895,112...119,909,488
Ensembl chr 7:119,895,120...119,909,458

G

arylsulfatase A

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783

G

choline kinase beta

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,500,960...120,504,359
Ensembl chr 7:120,500,984...120,504,461

G

ciliary microtubule associated protein 1B

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,444,232...120,447,294
Ensembl chr 7:120,444,232...120,446,749

G

carnitine palmitoyltransferase 1B

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,491,354...120,500,833
Ensembl chr 7:120,491,354...120,500,404

G

cysteine-rich with EGF-like domains 2

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:119,909,626...119,916,556
Ensembl chr 7:119,909,633...119,916,543

G

DENN domain containing 6B

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,261,679...120,273,667
Ensembl chr 7:120,261,679...120,273,494

G

histone deacetylase 10

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,199,126...120,205,850
Ensembl chr 7:120,199,129...120,204,228

G

kelch domain containing 7B

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,452,081...120,455,737
Ensembl chr 7:120,453,932...120,455,737

G

lipase maturation factor 2

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,418,343...120,422,825
Ensembl chr 7:120,418,345...120,422,823

G

mitogen-activated protein kinase 11

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,218,471...120,225,488
Ensembl chr 7:120,218,478...120,225,395

G

mitogen-activated protein kinase 12

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,206,005...120,216,711
Ensembl chr 7:120,206,271...120,216,664

G

mitogen-activated protein kinase 8 interacting protein 2

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,526,732...120,536,982
Ensembl chr 7:120,526,732...120,536,982

G

myo-inositol oxygenase

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,405,031...120,407,529
Ensembl chr 7:120,405,031...120,407,537

G

modulator of VRAC current 1

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049

G

Mov10 like RNA helicase 1

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,070,171...120,135,406
Ensembl chr 7:120,070,135...120,134,765

G

non-SMC condensin II complex, subunit H2

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938

G

pannexin 2

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,139,259...120,153,056
Ensembl chr 7:120,139,294...120,152,361

G

Pim-3 proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:119,953,377...119,956,587
Ensembl chr 7:119,953,175...119,956,587

G

plexin B2

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,232,276...120,258,385
Ensembl chr 7:120,232,331...120,258,330

G

protein phosphatase 6, regulatory subunit 2

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,285,378...120,356,995
Ensembl chr 7:120,285,406...120,356,395

G

SET binding factor 1

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902

G

selenoprotein O

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,167,913...120,178,806
Ensembl chr 7:120,167,913...120,178,805

G

SH3 and multiple ankyrin repeat domains 3

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,568,707...120,630,796
Ensembl chr 7:120,570,402...120,630,374

G

synaptonemal complex central element protein 3

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,456,800...120,482,882
Ensembl chr 7:120,456,800...120,482,973

G

TraB domain containing

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,155,042...120,166,015
Ensembl chr 7:120,155,042...120,166,015

G

tubulin tyrosine ligase like 8

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,000,638...120,046,556
Ensembl chr 7:120,001,794...120,045,075

G

tubulin gamma complex component 6

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011

G

thymidine phosphorylase

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874

G

zinc finger, BED-type containing 4

ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome

NCBI chr 7:119,846,374...119,883,495
Ensembl chr 7:119,843,169...119,883,899

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 chr17:9,876,853...9,913,356
Ensembl chr17:9,876,860...9,912,575

G

eukaryotic translation initiation factor 4E family member 1B

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr17:9,831,338...9,856,250
Ensembl chr17:9,832,230...9,835,137

G

Fas associated factor family member 2

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr17:9,947,211...9,989,474
Ensembl chr17:9,947,220...9,989,485

G

fibroblast growth factor receptor 4

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242

G

G protein-regulated inducer of neurite outgrowth 1

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr17:9,863,881...9,876,832
Ensembl chr17:9,863,571...9,876,915

G

hexokinase 3

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr17:9,596,950...9,614,847
Ensembl chr17:9,599,865...9,614,863

G

lectin, mannose-binding 2

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr17:9,269,236...9,286,923
Ensembl chr17:9,269,022...9,287,265

G

Max dimerization protein 3

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr17:9,301,430...9,305,156
Ensembl chr17:9,301,399...9,305,157

G

nuclear receptor binding SET domain protein 1

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358

G

PRELI domain containing 1

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr17:9,305,349...9,308,389
Ensembl chr17:9,305,361...9,308,407

G

RAB24, member RAS oncogene family

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr17:9,308,471...9,310,553
Ensembl chr17:9,308,525...9,310,553

G

regulator of G-protein signaling 14

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr17:9,248,982...9,263,104
Ensembl chr17:9,249,019...9,263,104

G

ring finger protein 44

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr17:9,919,982...9,934,376
Ensembl chr17:9,919,993...9,932,193

G

synuclein, beta

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012

G

tetraspanin 17

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr17:9,819,212...9,826,851
Ensembl chr17:9,819,202...9,826,834

G

ubiquitin interaction motif containing 1

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr17:9,523,793...9,592,810
Ensembl chr17:9,527,794...9,592,799

G

unc-5 netrin receptor A

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr17:9,614,841...9,670,558
Ensembl chr17:9,614,838...9,670,526

G

zinc finger protein 346

ClinVar Annotator: match by term: 5q35 microduplication syndrome

NCBI chr17:9,493,787...9,523,681
Ensembl chr17:9,493,803...9,523,635

Chromosome 8, Trisomy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NAD(P)H quinone dehydrogenase 1

associated with Myeloproliferative Disorders;DNA:missense mutation:cds:609C>T (human)

RGD

NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557

G

zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2

RGD

NCBI chr X:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125

chromosome Xp11.22 duplication syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: HUWE1-Related Disorder

NCBI chr X:20,873,795...21,001,378
Ensembl chr X:20,873,795...21,001,262

Chromosome Xq26.3 Duplication Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Rac/Cdc42 guanine nucleotide exchange factor 6

ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome

PMID:25712922 PMID:26935837

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

G

bombesin receptor subtype 3

ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome

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

G

CD40 ligand

ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome

PMID:25712922 PMID:26935837

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

G

G protein-coupled receptor 101

ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome

PMID:25712922 PMID:26935837

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

G

HIV-1 Tat specific factor 1

ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome

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

G

RNA binding motif protein, X-linked

ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome

PMID:25712922 PMID:26935837

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

G

vestigial-like family member 1

ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome

PMID:25712922 PMID:26935837

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

Down syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin related protein 1A

protein:decreased expression:cortex

RGD

NCBI chr 1:245,237,821...245,256,618
Ensembl chr 1:245,237,826...245,256,495

G

ALMS1, centrosome and basal body associated protein

ClinVar Annotator: match by term: Complete trisomy 21 syndrome

PMID:28492532 PMID:30311386

NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005

G

actin related protein 2/3 complex, subunit 4

protein:decreased expression:cerebral cortex (human)

RGD

NCBI chr 4:146,522,255...146,532,784
Ensembl chr 4:146,522,176...146,532,785

G

BCL2 interacting protein 1

mRNA:decreased expression:amniotic fluid cell:

RGD

NCBI chr10:16,386,876...16,399,124
Ensembl chr10:16,386,841...16,399,157

G

BRCA1 interacting helicase 1

protein:increased ubiquitination:frontal cortex (human)

RGD

NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324

G

calcitonin-related polypeptide alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105

G

collagen type XI alpha 2 chain

ClinVar Annotator: match by term: Complete trisomy 21 syndrome

PMID:28492532 PMID:30311386

NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985

G

cathepsin S

RGD

NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483

G

drebrin 1

protein:decreased expression:frontal cortex, temporal cortex:

RGD

NCBI chr17:9,150,608...9,164,982
Ensembl chr17:9,150,659...9,164,984

G

dual specificity tyrosine phosphorylation regulated kinase 1A

treatment

protein:increased expression:brain (human)
protein:increased expression:brain:

RGD

PMID:28647555 PMID:18658135 PMID:23220201 PMID:18696092

RGD:14973377, RGD:401940180, RGD:14974030, RGD:14974029

NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420

G

ERCC excision repair 2, TFIIH core complex helicase subunit

protein:increased expression:brain

RGD

NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102

G

ERCC excision repair 3, TFIIH core complex helicase subunit

mRNA:increased expression:brain (human)

RGD

NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329

G

fatty acid binding protein 3

protein:decreased expression:cerebral cortex (human)

RGD

NCBI chr 5:142,651,962...142,658,707
Ensembl chr 5:142,651,956...142,658,718

G

phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase

protein:increased expression:cerebellum (human)

RGD

NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125

G

GATA binding protein 1

ClinVar Annotator: match by term: Complete trisomy 21 syndrome | ClinVar Annotator: match by term: Down syndrome

PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:25741868 More...

NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530

G

GDP dissociation inhibitor 2

protein:decreased expression:brain (human)

RGD

NCBI chr17:66,649,616...66,676,299
Ensembl chr17:66,649,619...66,676,366

G

glutathione S-transferase mu 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:195,624,015...195,628,774
Ensembl chr 2:195,544,426...195,628,961

G

histamine N-methyltransferase

RGD

NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012

G

heat shock protein family D (Hsp60) member 1

RGD

NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662

G

insulin-like growth factor binding protein 3

protein:increased expression:blood:

RGD

NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083

G

potassium inwardly-rectifying channel, subfamily J, member 6

protein:increased expression:hippocampus

RGD

NCBI chr11:34,061,702...34,308,758
Ensembl chr11:34,061,708...34,308,758

G

microRNA 125b-2

CTD Direct Evidence: marker/mechanism

NCBI chr11:16,245,620...16,245,707

G

microRNA 155

CTD Direct Evidence: marker/mechanism

NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718

G

microRNA 802

CTD Direct Evidence: marker/mechanism

NCBI chr11:32,626,525...32,626,620
Ensembl chr11:32,626,525...32,626,620

G

microRNA 99a

CTD Direct Evidence: marker/mechanism

NCBI chr11:16,200,443...16,200,523
Ensembl chr11:16,200,443...16,200,523

G

microRNA let-7c-1

CTD Direct Evidence: marker/mechanism

NCBI chr11:16,201,163...16,201,256
Ensembl chr11:16,201,158...16,201,265

G

matrix metallopeptidase 9

RGD

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

G

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

susceptibility
no_association

DNA:SNP:cds:1958 G>A (rs2236225)(human)
protein:increased expression:brain:
DNA:SNP:cds:1958G>A(human)

RGD

PMID:25671679 PMID:15068241 PMID:22339736

RGD:12910959, RGD:12914150, RGD:12910960

NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372

G

methylenetetrahydrofolate reductase

susceptibility

CTD Direct Evidence: marker/mechanism
DNA:SNPs:cds:c.677C>T,c.1298A>C (human)

CTD
RGD

PMID:16353284 PMID:16489479 PMID:16845273 PMID:17431899 PMID:16489479

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

ClinVar Annotator: match by term: Down syndrome, susceptibility to

PMID:9501215 PMID:10444342 PMID:10500018 PMID:10930360 PMID:12375236 More...

NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425

G

myosin light chain 7

RGD

NCBI chr14:80,780,684...80,783,259
Ensembl chr14:80,779,776...80,783,244

G

NSF attachment protein beta

protein:decreased expression:temporal cortex

RGD

NCBI chr 3:136,132,248...136,179,280
Ensembl chr 3:136,133,428...136,179,345

G

neurotrophin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596

G

pericentrin

RGD

PMID:23979692 PMID:22552340

RGD:11537399, RGD:11537404

NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710

G

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha

ClinVar Annotator: match by term: Down syndrome

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

G

peroxiredoxin 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194

G

peroxiredoxin 6

CTD Direct Evidence: marker/mechanism

NCBI chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355

G

regulator of calcineurin 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045

G

reelin

protein: increased expression: brain

RGD

NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211

G

ring finger protein 212

ClinVar Annotator: match by term: Complete trisomy 21 syndrome

NCBI chr14:949,397...988,377
Ensembl chr14:949,448...987,831

G

ribosomal protein lateral stalk subunit P0

protein:increased expression:brain

RGD

NCBI chr12:41,054,363...41,057,632
Ensembl chr12:41,054,179...41,057,632

G

S100 calcium binding protein B

CTD Direct Evidence: marker/mechanism

NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743

G

solute carrier family 19 member 1

CTD Direct Evidence: marker/mechanism

PMID:16845273 PMID:17431899

NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972

G

synaptosome associated protein 25

RGD

NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760

G

superoxide dismutase 1

human gene in a mouse model
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:11181815 PMID:15464862

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

G

serine and arginine rich splicing factor 4

protein:increased expression:amniotic fluid (human)

RGD

NCBI chr 5:144,060,981...144,090,798
Ensembl chr 5:144,061,463...144,089,229

G

TIMP metallopeptidase inhibitor 1

RGD

NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664

G

tubulin, alpha 1A

protein:decreased expression:brain:

RGD

NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186

G

vasoactive intestinal peptide

mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16289943 PMID:19037032

NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216

hereditary mixed polyposis syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1, DNA repair associated

ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1

NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304

G

BRCA2, DNA repair associated

ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1

NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567

G

catenin alpha 1

ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1

PMID:28492532 PMID:32051609 PMID:34425242

NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910

G

secretogranin V

ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1

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

Klinefelter syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anosmin 1

ClinVar Annotator: match by term: Hypogonadotropic hypogonadism

NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801

G

coiled-coil domain containing 141

ClinVar Annotator: match by term: Hypogonadotropic hypogonadism

NCBI chr 3:61,948,614...62,109,968
Ensembl chr 3:61,948,646...62,110,079

G

chromodomain helicase DNA binding protein 7

ClinVar Annotator: match by term: Hypogonadotropic hypogonadism

PMID:15300250 PMID:16155193 PMID:18073582 PMID:20884005 PMID:21158681 More...

NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358

G

Fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Hypogonadotropic hypogonadism

PMID:12627230 PMID:17200176 PMID:25636053 PMID:25741868 PMID:28492532 More...

NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350

G

gonadotropin releasing hormone receptor

ClinVar Annotator: match by term: Hypogonadotropic hypogonadism

PMID:7557974 PMID:9371856 PMID:9425890 PMID:10022417 PMID:10084584 More...

NCBI chr14:21,856,871...21,874,861
Ensembl chr14:21,856,871...21,874,861

G

heparan sulfate 6-O-sulfotransferase 1

ClinVar Annotator: match by term: Hypogonadotropic hypogonadism

NCBI chr 9:38,283,502...38,322,684
Ensembl chr 9:38,282,395...38,322,683

G

KISS1 receptor

ClinVar Annotator: match by term: Hypogonadotropic hypogonadism

NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793

G

nescient helix loop helix 2

ClinVar Annotator: match by term: Hypogonadotropic hypogonadism

PMID:25741868 PMID:35066646

NCBI chr 2:189,444,287...189,449,625
Ensembl chr 2:189,442,711...189,449,625

G

neuroligin 3

ClinVar Annotator: match by term: Hypogonadotropic hypogonadism

NCBI chr X:66,427,926...66,457,378
Ensembl chr X:66,429,458...66,451,876

G

plexin A3

ClinVar Annotator: match by term: Hypogonadotropic hypogonadism

NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603

G

RNA polymerase III subunit B

ClinVar Annotator: match by term: Hypogonadotropic hypogonadism

PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 More...

NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598

G

POU class 6 homeobox 2

ClinVar Annotator: match by term: Hypogonadotropic hypogonadism

NCBI chr17:46,472,182...46,886,796
Ensembl chr17:46,472,181...46,921,039

G

prokineticin 2

ClinVar Annotator: match by term: Hypogonadotropic hypogonadism

NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385

G

semaphorin 3F

ClinVar Annotator: match by term: Hypogonadotropic hypogonadism

NCBI chr 8:108,357,629...108,386,569
Ensembl chr 8:108,357,629...108,387,083

G

sprouty RTK signaling antagonist 4

ClinVar Annotator: match by term: Hypogonadotropic hypogonadism

NCBI chr18:30,436,513...30,451,426
Ensembl chr18:30,436,443...30,453,004

G

tachykinin receptor 3

ClinVar Annotator: match by term: Hypogonadotropic hypogonadism

NCBI chr 2:223,266,536...223,363,791
Ensembl chr 2:223,266,536...223,363,791

G

WD repeat domain 11

ClinVar Annotator: match by term: Hypogonadotropic hypogonadism

PMID:20887964 PMID:25741868 PMID:28492532

NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846

myeloid leukemia associated with Down Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CCCTC-binding factor

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome

PMID:24056718 PMID:27993330

NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123

G

DDB1 and CUL4 associated factor 7

CTD Direct Evidence: marker/mechanism

NCBI chr10:90,974,095...90,996,275
Ensembl chr10:90,974,095...90,996,275

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

GATA binding protein 1

ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome | ClinVar Annotator: match by term: Leukemia, megakaryoblastic, of Down syndrome

PMID:12172547 PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 More...

NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530

G

Janus kinase 1

ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome

NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926

G

KAT8 regulatory NSL complex subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951

G

major facilitator superfamily domain containing 11

ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome

NCBI chr10:102,055,516...102,075,064
Ensembl chr10:102,056,051...102,075,064

G

NRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome

PMID:2407301 PMID:2674680 PMID:2989702 PMID:8120410 PMID:16291983 More...

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

protein tyrosine phosphatase, non-receptor type 11

ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome

PMID:15384080 PMID:16358218 PMID:16804314 PMID:17020470 PMID:24803665 More...

NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

G

RAD21 cohesin complex component

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome

PMID:24056718 PMID:27993330

NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817

G

serine and arginine rich splicing factor 2

ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome

NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338

G

STAG2 cohesin complex component

CTD Direct Evidence: marker/mechanism

NCBI chr X:120,974,687...121,105,677
Ensembl chr X:120,974,857...121,105,677

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

Potocki-Lupski syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

A-kinase anchoring protein 10

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:46,545,371...46,608,730
Ensembl chr10:46,551,532...46,608,769

G

aldehyde dehydrogenase 3 family, member A1

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681

G

aldehyde dehydrogenase 3 family, member A2

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:45,928,313...45,949,366
Ensembl chr10:45,908,524...45,949,281

G

alkB homolog 5, RNA demethylase

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331

G

ATP synthase mitochondrial F1 complex assembly factor 2

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:45,205,658...45,221,891
Ensembl chr10:45,197,441...45,221,026

G

B9 domain containing 1

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008

G

COP9 signalosome subunit 3

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:44,618,115...44,652,807
Ensembl chr10:44,618,115...44,641,597

G

dynein regulatory complex subunit 3

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:45,149,094...45,200,659
Ensembl chr10:45,157,354...45,199,369

G

developmentally regulated GTP binding protein 2

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:45,255,512...45,269,971
Ensembl chr10:45,255,507...45,269,969

G

epsin 2

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:46,197,785...46,259,673
Ensembl chr10:46,197,785...46,259,642

G

family with sequence similarity 83, member G

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:46,363,029...46,388,030
Ensembl chr10:46,363,051...46,388,019

G

F-box and WD repeat domain containing 10

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:47,513,313...47,551,909
Ensembl chr10:47,486,297...47,551,907

G

folliculin

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Potocki-Lupski syndrome | ClinVar Annotator: match by term: Potocki-Lupski syndrome (dup(17)(p11.2p11.2))

PMID:12204536 PMID:12471204 PMID:15852235 PMID:16199547 PMID:17496196 More...

NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769

G

FLII, actin remodeling protein

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970

G

GID complex subunit 4

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:45,221,556...45,247,627
Ensembl chr10:45,245,754...45,247,621
Ensembl chr10:45,245,754...45,247,621

G

GRB2-related adaptor protein

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:46,298,965...46,352,057
Ensembl chr10:46,332,909...46,352,056

G

LLGL scribble cell polarity complex component 1

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:45,379,423...45,394,096
Ensembl chr10:45,379,515...45,394,094

G

mitogen-activated protein kinase 7

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:46,170,264...46,176,262
Ensembl chr10:46,170,167...46,176,267

G

mediator complex subunit 9

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:44,750,667...44,765,464
Ensembl chr10:44,750,698...44,765,464

G

microfibril associated protein 4

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:46,167,158...46,170,176
Ensembl chr10:46,167,217...46,170,155

G

mitochondrial elongation factor 2

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:45,408,055...45,414,144
Ensembl chr10:45,408,082...45,414,144

G

myosin phosphatase Rho interacting protein

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:44,453,949...44,573,843
Ensembl chr10:44,453,929...44,569,118

G

myosin XVA

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340

G

5',3'-nucleotidase, mitochondrial

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:44,652,845...44,680,549
Ensembl chr10:44,652,975...44,679,150

G

phosphatidylethanolamine N-methyltransferase

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013

G

phospholipase D family, member 6

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:44,578,536...44,581,187
Ensembl chr10:44,577,675...44,581,077

G

phosphoribosyl pyrophosphate synthetase-associated protein 2

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:46,410,817...46,445,929
Ensembl chr10:46,410,835...46,445,849

G

retinoic acid induced 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Potocki-Lupski syndrome

PMID:17517686 PMID:28837307

NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232

G

ras related dexamethasone induced 1

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:44,766,451...44,775,773
Ensembl chr10:44,766,455...44,768,186

G

ring finger protein 112

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:46,121,146...46,126,691
Ensembl chr10:46,121,148...46,126,699

G

serine hydroxymethyltransferase 1

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820

G

solute carrier family 47 member 1

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:46,034,115...46,088,617
Ensembl chr10:46,034,122...46,087,637

G

solute carrier family 47 member 2

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:45,990,806...46,033,937
Ensembl chr10:45,991,095...46,033,904

G

solute carrier family 5 member 10

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:46,352,060...46,400,795
Ensembl chr10:46,352,061...46,399,811

G

SMCR8-C9orf72 complex subunit

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:45,457,962...45,465,101
Ensembl chr10:45,457,605...45,468,876

G

sperm antigen with calponin homology and coiled-coil domains 1

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:46,638,947...46,912,989
Ensembl chr10:46,638,809...46,912,802

G

sterol regulatory element binding transcription factor 1

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650

G

TNF receptor superfamily member 13B

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987

G

target of myb1 like 2 membrane trafficking protein

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:45,036,034...45,158,168
Ensembl chr10:45,036,035...45,158,032

G

DNA topoisomerase III alpha

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559

G

trans-golgi network vesicle protein 23 homolog B

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:47,553,789...47,565,203
Ensembl chr10:47,553,831...47,565,203

G

unc-51 like autophagy activating kinase 2

ClinVar Annotator: match by term: Potocki-Lupski syndrome

NCBI chr10:46,451,578...46,530,462
Ensembl chr10:46,454,030...46,530,407

split hand-foot malformation 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

F-box and WD repeat domain containing 4

ClinVar Annotator: match by term: Split hand-foot malformation 3

PMID:25741868 PMID:28492532

NCBI chr 1:244,426,892...244,514,188
Ensembl chr 1:244,426,896...244,514,163

syndactyly type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Indian hedgehog signaling molecule

DNA:duplications

RGD

NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532

G

nonhomologous end-joining factor 1

ClinVar Annotator: match by term: Syndactyly type 1

NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444

syndromic X-linked intellectual disability Lubs type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 7

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:69,295,598...69,436,775
Ensembl chr X:69,295,552...69,436,858

G

ATP binding cassette subfamily D member 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115

G

angiotensin converting enzyme 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977

G

acyl-CoA thioesterase 9

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:40,073,197...40,123,573
Ensembl chr X:40,064,810...40,123,559

G

acyl-CoA synthetase long-chain family member 4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:105,942,794...106,006,573
Ensembl chr X:105,942,799...106,006,427

G

actin-related protein T1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:125,584,102...125,585,455
Ensembl chr X:125,584,065...125,585,457

G

adhesion G protein-coupled receptor G2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:34,297,402...34,422,590
Ensembl chr X:34,297,402...34,422,609

G

adhesion G protein-coupled receptor G4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

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

G

ALF transcription elongation factor 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:147,928,130...148,432,484
Ensembl chr X:147,928,407...148,429,995

G

angiotensin II receptor, type 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057

G

apoptosis inducing factor, mitochondria associated 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256

G

A-kinase anchoring protein 14

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:116,395,512...116,410,697
Ensembl chr X:116,395,516...116,410,697

G

A-kinase anchoring protein 4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:15,435,391...15,445,684
Ensembl chr X:15,435,410...15,445,684

G

5'-aminolevulinate synthase 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519

G

ALG13, UDP-N-acetylglucosaminyltransferase subunit

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:107,906,320...107,968,232
Ensembl chr X:107,885,093...107,942,695

G

APC membrane recruitment protein 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:60,300,595...60,316,480
Ensembl chr X:60,295,751...60,316,440

G

AMMECR nuclear protein 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:106,465,982...106,571,382
Ensembl chr X:106,466,699...106,571,487

G

angiomotin

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:108,982,399...109,041,265
Ensembl chr X:108,984,022...109,041,272

G

adaptor related protein complex 1 subunit sigma 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:30,572,746...30,598,961
Ensembl chr X:30,572,751...30,597,262

G

apurinic/apyrimidinic endodeoxyribonuclease 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:19,425,684...19,508,459
Ensembl chr X:19,487,419...19,508,439

G

apelin

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:127,180,801...127,213,567
Ensembl chr X:127,203,823...127,213,391

G

apolipoprotein O

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:59,157,971...59,262,940
Ensembl chr X:59,158,049...59,262,940

G

apolipoprotein O-like

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:77,377,723...77,443,672
Ensembl chr X:77,377,781...77,443,900

G

androgen receptor

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925

G

A-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:1,227,392...1,292,356
Ensembl chr X:1,227,392...1,239,073

G

Rho GTPase activating protein 36

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:128,780,148...128,787,169
Ensembl chr X:128,751,900...128,787,161

G

Rho GTPase activating protein 4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:151,636,071...151,651,528
Ensembl chr X:151,632,454...151,651,128

G

Rac/Cdc42 guanine nucleotide exchange factor 6

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

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

G

Cdc42 guanine nucleotide exchange factor 9

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:59,919,560...60,077,538
Ensembl chr X:59,920,870...60,077,513

G

ADP ribosylation factor like GTPase 13A

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:97,380,370...97,406,704
Ensembl chr X:97,380,390...97,406,702

G

armadillo repeat containing, X-linked 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:97,898,969...97,902,874
Ensembl chr X:97,898,883...97,903,299

G

armadillo repeat containing, X-linked 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:97,980,662...97,985,523
Ensembl chr X:97,980,660...97,985,552

G

armadillo repeat containing, X-linked 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:97,937,115...97,942,098
Ensembl chr X:97,936,999...97,942,098

G

armadillo repeat containing, X-linked 4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:97,860,526...97,870,912
Ensembl chr X:97,860,629...97,870,912

G

armadillo repeat containing, X-linked 5

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:98,709,921...98,714,347
Ensembl chr X:98,709,841...98,714,674

G

armadillo repeat containing, X-linked 6

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:97,929,032...97,932,031
Ensembl chr X:97,929,041...97,931,977

G

arrestin 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:65,699,881...65,712,224
Ensembl chr X:65,698,699...65,712,153

G

aristaless related homeobox

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142

G

ankyrin repeat and SOCS box containing 11

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:30,014,485...30,037,808
Ensembl chr X:29,992,416...30,037,807

G

ankyrin repeat and SOCS box-containing 12

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:60,328,325...60,478,031
Ensembl chr X:60,328,328...60,415,619

G

autophagy related 4A, cysteine peptidase

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:104,665,345...104,765,271
Ensembl chr X:104,665,345...104,765,268

G

ATPase phospholipid transporting 11C

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:138,564,459...138,752,116
Ensembl chr X:138,565,836...138,751,204

G

ATPase Na+/K+ transporting family member beta 4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:117,087,284...117,108,023
Ensembl chr X:117,057,423...117,108,020

G

ATPase plasma membrane Ca2+ transporting 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775

G

ATPase H+ transporting accessory protein 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More...

NCBI chr X:152,079,954...152,087,034
Ensembl chr X:152,079,865...152,087,034

G

ATPase H+ transporting accessory protein 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:10,183,983...10,210,948
Ensembl chr X:10,183,068...10,210,918

G

ATPase copper transporting alpha

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354

G

ATRX, chromatin remodeler

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330

G

arginine vasopressin receptor 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989

G

acyl-CoA wax alcohol acyltransferase 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:65,668,205...65,674,450
Ensembl chr X:65,668,205...65,674,450

G

acyl-CoA wax alcohol acyltransferase 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:65,481,676...65,490,562
Ensembl chr X:65,481,929...65,527,625

G

B-cell receptor-associated protein 31

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506

G

BCLAF1 and THRAP3 family member 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:35,257,228...35,328,883
Ensembl chr X:35,263,576...35,328,816

G

BCL6 co-repressor

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613

G

BCL6 co-repressor-like 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:127,516,504...127,584,529
Ensembl chr X:127,537,538...127,584,087

G

BEN domain containing 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:33,401,122...33,465,427

G

brain expressed X-linked 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:99,219,014...99,220,518
Ensembl chr X:99,219,014...99,220,958

G

brain expressed X-linked 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:99,019,847...99,021,375
Ensembl chr X:99,019,000...99,021,503

G

brain expressed X-linked 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:99,273,270...99,274,799
Ensembl chr X:99,273,161...99,274,800

G

brain expressed, X-linked 4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:99,131,985...99,133,417
Ensembl chr X:99,131,942...99,133,531

G

biglycan

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461

G

bone morphogenetic protein 15

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:16,169,123...16,174,187
Ensembl chr X:16,169,123...16,174,187

G

BMX non-receptor tyrosine kinase

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:30,227,251...30,290,015
Ensembl chr X:30,227,251...30,289,993

G

bombesin receptor subtype 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

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

G

bromodomain and WD repeat domain containing 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:73,768,343...73,861,643
Ensembl chr X:73,774,340...73,861,622

G

Bruton tyrosine kinase

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853

G

C1GALT1-specific chaperone 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:117,378,123...117,382,620
Ensembl chr X:117,375,525...117,382,787

G

calcium voltage-gated channel subunit alpha1 F

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413

G

calpain 6

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:107,380,774...107,405,489
Ensembl chr X:107,380,774...107,405,489

G

carbonic anhydrase 5B

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:30,474,697...30,534,797
Ensembl chr X:30,474,784...30,533,837

G

calcium/calmodulin dependent serine protein kinase

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694

G

coiled-coil domain containing 120

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,753,594...14,772,745
Ensembl chr X:14,753,696...14,772,743

G

coiled-coil domain containing 160

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:132,468,141...132,478,616
Ensembl chr X:132,468,213...132,478,431

G

coiled-coil domain containing 22

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,898,296...14,910,244
Ensembl chr X:14,898,296...14,910,244

G

cyclin B3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:15,478,050...15,543,292
Ensembl chr X:15,478,065...15,542,885

G

cyclin Q

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961

G

CD40 ligand

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

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

G

CD99 molecule-like 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

G

cyclin-dependent kinase 16

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:1,492,814...1,504,309
Ensembl chr X:1,492,814...1,504,148

G

cyclin-dependent kinase-like 5

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

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

G

caudal type homeo box 4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:68,326,874...68,335,461
Ensembl chr X:68,326,874...68,335,461

G

centromere protein I

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:97,515,919...97,567,671
Ensembl chr X:97,515,972...97,567,657

G

centrin 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:150,769,944...150,774,833
Ensembl chr X:150,769,953...150,774,919

G

cilia and flagella associated protein 47

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:43,264,687...43,616,607
Ensembl chr X:43,263,490...43,616,852

G

complement factor properdin

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:1,162,014...1,167,576
Ensembl chr X:1,161,979...1,167,573

G

cysteine-rich hydrophobic domain 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:68,362,014...68,406,155
Ensembl chr X:68,361,969...68,437,887

G

CHM Rab escort protein

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:78,203,200...78,361,996
Ensembl chr X:78,203,204...78,361,943

G

chordin-like 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:106,889,125...106,992,937
Ensembl chr X:106,889,125...106,992,921

G

carbohydrate sulfotransferase 7

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:2,396,260...2,432,828
Ensembl chr X:2,393,874...2,432,840

G

Cbp/p300-interacting transactivator with Glu/Asp-rich carboxy-terminal domain 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:67,350,376...67,355,072
Ensembl chr X:67,350,373...67,355,162

G

chloride voltage-gated channel 5

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264

G

claudin 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:103,459,870...103,473,794
Ensembl chr X:103,459,780...103,474,838

G

collectrin, amino acid transport regulator

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:30,361,967...30,395,264
Ensembl chr X:30,361,967...30,395,349

G

cyclic nucleotide gated channel subunit alpha 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:149,696,999...149,715,051
Ensembl chr X:149,696,997...149,715,051

G

connector enhancer of kinase suppressor of Ras 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:36,908,135...37,148,337
Ensembl chr X:36,907,850...37,150,555

G

collagen type IV alpha 5 chain

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692

G

collagen type IV alpha 6 chain

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:104,766,463...105,117,499
Ensembl chr X:104,766,957...105,117,500

G

cytochrome c oxidase subunit 7B

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:71,083,486...71,089,733
Ensembl chr X:71,083,456...71,089,732

G

CPX chromosome region, candidate 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:81,756,909...81,794,661

G

cleavage stimulation factor subunit 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:97,253,559...97,279,476
Ensembl chr X:97,253,586...97,279,476

G

cancer/testis antigen family 47, member B1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:115,651,472...115,655,191
Ensembl chr X:115,651,482...115,655,188

G

cancer/testis antigen 55

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:133,502,545...133,515,730
Ensembl chr X:133,502,869...133,515,529

G

cancer/testis antigen 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More...

NCBI chr X:143,531,907...143,533,201
Ensembl chr X:143,531,907...143,533,201

G

CTP synthase 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:31,645,873...31,786,733
Ensembl chr X:31,645,873...31,786,733

G

cullin 4B

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:117,287,481...117,326,688
Ensembl chr X:117,287,484...117,326,688

G

C-X-C motif chemokine receptor 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969

G

similar to human chromosome X open reading frame 38

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:10,128,070...10,150,904
Ensembl chr X:10,129,657...10,150,900

G

similar to human chromosome X open reading frame 49

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:66,911,430...66,915,407
Ensembl chr X:66,911,431...66,915,293

G

similar to human chromosome X open reading frame 58

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:59,101,854...59,157,948
Ensembl chr X:59,101,845...59,157,865

G

similar to human chromosome X open reading frame 66

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:138,779,374...138,819,595
Ensembl chr X:138,779,382...138,785,707

G

cytochrome b-245 beta chain

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586

G

cylicin 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:76,108,111...76,197,431
Ensembl chr X:76,108,136...76,197,422

G

cysteinyl leukotriene receptor 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121

G

dachshund family transcription factor 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:78,718,963...79,018,023
Ensembl chr X:78,451,593...79,017,592

G

DDB1 and CUL4 associated factor 12-like 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:123,695,286...123,698,905
Ensembl chr X:123,695,286...123,698,905

G

DDB1 and CUL4 associated factor 12-like 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:123,293,761...123,296,550
Ensembl chr X:123,294,744...123,296,156

G

DDB1 and CUL4 associated factor 8-like 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:54,488,494...54,491,514
Ensembl chr X:54,488,781...54,491,141

G

doublecortin

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476

G

DEAD-box helicase 3, X-linked

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168

G

diacylglycerol O-acyltransferase 2-like 6

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:65,614,430...65,637,962
Ensembl chr X:65,614,430...65,637,962

G

diacylglycerol kinase kappa

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:15,581,991...15,713,814
Ensembl chr X:15,583,572...15,712,987

G

diaphanous-related formin 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:92,395,189...93,234,521
Ensembl chr X:92,395,251...93,229,869

G

divergent protein kinase domain 2B

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:4,205,486...4,274,939
Ensembl chr X:4,205,490...4,271,574

G

discs large MAGUK scaffold protein 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:65,859,653...65,911,887
Ensembl chr X:65,860,172...65,910,322

G

dystrophin

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207

G

DMRT-like family C1a

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:67,822,187...67,852,572
Ensembl chr X:67,822,113...67,852,571

G

DMRT-like family C1c1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:67,896,973...67,904,182
Ensembl chr X:67,896,974...67,904,182

G

dynein axonemal assembly factor 6

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:103,724,419...103,775,633
Ensembl chr X:103,731,857...103,775,629

G

deoxyribonuclease 1-like 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More...

NCBI chr X:152,056,942...152,065,518
Ensembl chr X:152,056,942...152,065,518

G

dedicator of cytokinesis 11

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:115,131,720...115,314,854
Ensembl chr X:115,131,909...115,314,854

G

dystrophin related protein 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:97,607,577...97,658,117
Ensembl chr X:97,607,719...97,655,684

G

dual specificity phosphatase 21

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:4,488,021...4,488,877
Ensembl chr X:4,488,021...4,488,877

G

dual specificity phosphatase 9

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:151,351,897...151,355,822
Ensembl chr X:151,351,897...151,355,821

G

dynein light chain Tctex-type 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:13,327,933...13,337,139
Ensembl chr X:13,327,892...13,337,139

G

EBP, cholestenol delta-isomerase

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,299,427...14,305,826
Ensembl chr X:14,299,448...14,305,826

G

ectodysplasin-A

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172

G

ectodysplasin A2 receptor

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:62,224,763...62,269,333
Ensembl chr X:62,228,229...62,269,268

G

EF-hand domain containing 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:5,360,499...5,564,004
Ensembl chr X:5,360,617...5,560,970

G

ephrin B1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:64,257,351...64,270,158
Ensembl chr X:64,257,351...64,270,157

G

eukaryotic translation initiation factor 1A, X-linked

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:35,498,698...35,513,402
Ensembl chr X:35,498,517...35,513,335

G

eukaryotic translation initiation factor 2 subunit gamma

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:58,916,513...58,939,923
Ensembl chr X:58,917,490...58,940,686

G

E74 like ETS transcription factor 4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:127,587,401...127,639,063
Ensembl chr X:127,590,650...127,630,200

G

ETS transcription factor ELK1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:1,138,826...1,155,713
Ensembl chr X:1,139,756...1,155,713

G

emerin

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More...

NCBI chr X:152,038,990...152,042,190
Ensembl chr X:152,038,998...152,045,807

G

ecto-NOX disulfide-thiol exchanger 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:128,270,941...128,593,074
Ensembl chr X:128,271,074...128,593,039

G

endothelium and lymphocyte associated ASCH domain 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:149,064,015...149,068,627
Ensembl chr X:149,064,041...149,068,627

G

ES cell expressed Ras

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,573,987...14,578,455
Ensembl chr X:14,573,987...14,578,374

G

ERCC excision repair 6 like, spindle assembly checkpoint helicase

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:67,245,414...67,261,222
Ensembl chr X:67,245,414...67,280,756

G

ESX homeobox 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:100,449,298...100,454,452

G

coagulation factor IX

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:138,352,334...138,396,835
Ensembl chr X:138,352,298...138,396,835

G

family with sequence similarity 120 member C

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:20,324,046...20,477,831
Ensembl chr X:20,323,381...20,477,275

G

family with sequence similarity 199, X-linked

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:100,384,230...100,419,935
Ensembl chr X:100,384,225...100,414,938

G

FAM3 metabolism regulating signaling molecule A

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More...

NCBI chr X:152,166,716...152,175,327
Ensembl chr X:152,165,535...152,175,362

G

family with sequence similarity 47, member A

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:42,762,231...42,763,887
Ensembl chr X:42,762,229...42,763,883

G

family with sequence similarity 50, member A

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More...

NCBI chr X:152,095,245...152,102,362
Ensembl chr X:152,095,245...152,102,362

G

FYVE, RhoGEF and PH domain containing 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:20,023,746...20,066,734
Ensembl chr X:20,023,746...20,066,566

G

fibroblast growth factor 13

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:137,276,498...137,800,056
Ensembl chr X:137,276,511...137,800,391

G

fibroblast growth factor 16

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:70,816,658...70,828,028
Ensembl chr X:70,817,433...70,878,717

G

four and a half LIM domains 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

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

G

filamin A

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More...

NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052

G

fragile X messenger ribonucleoprotein 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050

G

FMR1 neighbor

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:147,309,613...147,332,426
Ensembl chr X:147,309,663...147,332,418

G

forkhead box O4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:66,385,241...66,392,115
Ensembl chr X:66,385,558...66,392,115

G

forkhead box P3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838

G

forkhead box R2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:18,242,420...18,276,095
Ensembl chr X:18,244,255...18,245,163

G

FERM domain containing 7

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:130,375,925...130,423,836
Ensembl chr X:130,377,227...130,423,771

G

FERM and PDZ domain containing 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:103,964,168...104,113,864
Ensembl chr X:104,043,194...104,111,968

G

ferritin, heavy polypeptide-like 17, member A

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:49,595,422...49,596,399
Ensembl chr X:49,595,718...49,596,266

G

FtsJ RNA 2'-O-methyltransferase 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,243,684...14,256,555
Ensembl chr X:14,244,050...14,252,030

G

FTX transcript, XIST regulator

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:68,588,349...68,630,338

G

FUN14 domain containing 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:5,083,635...5,100,293
Ensembl chr X:5,083,617...5,100,284

G

glucose-6-phosphate dehydrogenase

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More...

NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801

G

gamma-aminobutyric acid type A receptor subunit alpha 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:150,244,745...150,501,566
Ensembl chr X:150,261,607...150,501,559

G

gamma-aminobutyric acid type A receptor subunit epsilon

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:150,060,035...150,078,773
Ensembl chr X:150,060,040...150,078,693

G

gamma-aminobutyric acid type A receptor subunit theta

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:150,696,161...150,712,948
Ensembl chr X:150,696,427...150,709,919

G

GATA binding protein 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530

G

GDP dissociation inhibitor 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More...

NCBI chr X:152,087,611...152,094,274
Ensembl chr X:152,087,444...152,094,272

G

glycerophosphodiester phosphodiesterase domain containing 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:65,826,273...65,835,361
Ensembl chr X:65,826,574...65,835,361

G

gap junction protein, beta 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:66,501,848...66,509,783
Ensembl chr X:66,501,820...66,509,925

G

glycerol kinase

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:50,162,089...50,238,707
Ensembl chr X:50,163,123...50,238,631

G

galactosidase, alpha

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664

G

glyoxalase domain containing 5

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,473,994...14,488,797
Ensembl chr X:14,473,994...14,488,683

G

G protein nucleolar 3 like

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:19,961,277...19,994,454
Ensembl chr X:19,958,603...19,994,508

G

glypican 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:131,868,986...132,236,824
Ensembl chr X:131,868,990...132,236,798

G

glypican 4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:131,644,711...131,755,349
Ensembl chr X:131,644,704...131,755,284

G

G patch domain and KOW motifs

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,791,601...14,806,384
Ensembl chr X:14,791,610...14,806,384

G

G protein-coupled receptor 101

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

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

G

G protein-coupled receptor 119

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:127,852,145...127,858,198
Ensembl chr X:127,852,145...127,858,198

G

G-protein coupled receptor 173

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:21,446,261...21,471,119
Ensembl chr X:21,447,361...21,471,498

G

G protein-coupled receptor 174

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:72,355,452...72,396,146
Ensembl chr X:72,355,033...72,397,658

G

G protein-coupled receptor 34

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:9,104,829...9,113,796
Ensembl chr X:9,104,565...9,148,601

G

G protein-coupled receptor 50

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:149,368,900...149,373,486
Ensembl chr X:149,368,900...149,373,486

G

G protein-coupled receptor 82

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:9,079,016...9,084,696
Ensembl chr X:9,080,254...9,081,240

G

G protein-coupled receptor associated sorting protein 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:98,764,853...98,772,685
Ensembl chr X:98,709,841...98,772,851

G

G protein-coupled receptor associated sorting protein 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:98,817,668...98,823,814
Ensembl chr X:98,817,593...98,824,402

G

G protein-coupled receptor associated sorting protein family member 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:98,847,591...98,854,949
Ensembl chr X:98,817,593...98,854,545

G

glutamate ionotropic receptor AMPA type subunit 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:120,238,515...120,504,106
Ensembl chr X:120,238,534...120,504,096

G

GRIP1 associated protein 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,678,896...14,708,747
Ensembl chr X:14,678,898...14,708,679

G

gastrin releasing peptide receptor

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:30,998,425...31,038,442
Ensembl chr X:30,998,416...31,038,442

G

G1 to S phase transition 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:59,587,237...59,589,758
Ensembl chr X:59,587,276...59,594,162

G

guanylate cyclase 2F

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:105,710,356...105,808,183
Ensembl chr X:105,710,356...105,808,183

G

H2A.P histone

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:12,907,962...12,908,516

G

HAUS augmin-like complex, subunit 7

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:151,154,979...151,174,441
Ensembl chr X:151,154,979...151,180,577

G

host cell factor C1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638

G

histone deacetylase 6

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441

G

histone deacetylase 8

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:67,385,288...67,593,014
Ensembl chr X:67,385,289...67,592,923

G

highly divergent homeobox

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:76,552,539...76,697,177
Ensembl chr X:76,560,665...76,869,972

G

hephaestin

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:61,151,131...61,402,980
Ensembl chr X:61,296,345...61,402,980

G

high mobility group box 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:149,296,303...149,301,290
Ensembl chr X:149,296,375...149,301,292

G

high mobility group nucleosome binding domain 5

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:74,085,871...74,094,488
Ensembl chr X:74,085,875...74,094,441

G

heterogeneous nuclear ribonucleoprotein H2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:97,780,890...97,786,846
Ensembl chr X:97,780,785...97,787,041

G

hypoxanthine phosphoribosyltransferase 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:132,736,175...132,768,149
Ensembl chr X:132,736,096...132,768,154

G

heparan sulfate 6-O-sulfotransferase 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:130,966,547...131,261,629
Ensembl chr X:130,968,385...131,261,492

G

hydroxysteroid (17-beta) dehydrogenase 10

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:21,089,142...21,091,603
Ensembl chr X:21,089,122...21,109,488

G

heat shock transcription factor family, X-linked member 3 like

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More...

NCBI chr X:146,126,163...146,128,629

G

HIV-1 Tat specific factor 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

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

G

5-hydroxytryptamine receptor 2C

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:110,640,777...110,870,288
Ensembl chr X:110,641,153...110,870,287

G

HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:20,873,795...21,001,378
Ensembl chr X:20,873,795...21,001,262

G

isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171

G

iduronate 2-sulfatase

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:149,025,976...149,046,641
Ensembl chr X:149,025,976...149,046,663

G

immunoglobulin binding protein 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:65,582,832...65,605,078
Ensembl chr X:65,582,821...65,606,049

G

immunoglobulin superfamily, member 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:129,069,891...129,085,331
Ensembl chr X:129,069,896...129,085,139

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More...

NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499

G

interleukin 13 receptor subunit alpha 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:115,348,822...115,408,682
Ensembl chr X:115,348,860...115,408,681
Ensembl chr11:115,348,860...115,408,681

G

interleukin 13 receptor subunit alpha 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381

G

interleukin 1 receptor accessory protein-like 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:51,371,969...52,876,726
Ensembl chr X:51,378,215...52,876,772

G

interleukin 1 receptor accessory protein-like 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:100,961,509...102,271,753
Ensembl chr X:100,961,812...102,271,753

G

interleukin 2 receptor subunit gamma

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:66,395,330...66,399,026
Ensembl chr X:66,392,542...66,399,823

G

integrator complex subunit 6 like

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:134,258,117...134,325,706
Ensembl chr X:134,258,125...134,309,617

G

IQ motif and Sec7 domain ArfGEF 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:21,254,799...21,337,179
Ensembl chr X:21,254,914...21,336,584

G

interleukin-1 receptor-associated kinase 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521

G

insulin receptor substrate 4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:105,344,020...105,360,004

G

integrin subunit beta 1 binding protein 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:66,572,537...66,577,174
Ensembl chr X:66,572,537...66,577,174

G

inter-alpha-trypsin inhibitor heavy chain family member 6

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:19,753,322...19,790,381
Ensembl chr X:19,753,625...19,789,500

G

integral membrane protein 2A

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:72,486,383...72,492,344
Ensembl chr X:72,486,381...72,492,363

G

jade family PHD finger 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:1,668,873...1,848,781
Ensembl chr X:1,669,930...1,845,138

G

JPX transcript, XIST activator

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:68,511,491...68,665,132

G

potassium voltage-gated channel subfamily D member 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,661,688...14,678,745
Ensembl chr X:14,662,357...14,677,233

G

potassium voltage-gated channel subfamily E regulatory subunit 5

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:105,930,398...105,931,013
Ensembl chr X:105,930,398...105,931,013

G

lysine demethylase 5C

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:21,345,459...21,387,045
Ensembl chr X:21,345,481...21,381,870

G

lysine demethylase 6A

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062

G

KIAA1210 homolog

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:115,675,412...115,725,950
Ensembl chr X:115,675,427...115,725,925

G

kinesin family member 4A

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:65,721,746...65,824,277
Ensembl chr X:65,721,779...65,824,139

G

KLF transcription factor 8

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:17,950,045...18,132,980
Ensembl chr X:17,958,843...18,133,182

G

kelch-like family member 13

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:113,942,309...114,107,299
Ensembl chr X:113,942,309...114,107,321

G

kelch-like family member 15

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:58,994,726...59,050,207
Ensembl chr X:58,995,461...59,046,069

G

kelch-like family member 34

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:37,151,298...37,154,053
Ensembl chr X:37,151,592...37,153,529

G

kelch-like family member 4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:79,429,193...79,719,482
Ensembl chr X:79,622,113...79,719,480

G

L1 cell adhesion molecule

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857

G

L antigen family, member 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More...

NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632

G

lysosomal-associated membrane protein 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522

G

LanC like family member 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:13,478,499...13,609,934
Ensembl chr X:13,480,311...13,609,678

G

LAS1-like, ribosome biogenesis factor

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:60,851,969...60,873,717
Ensembl chr X:60,851,962...60,873,687

G

LDOC1, regulator of NFKB signaling

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:139,965,509...140,074,355
Ensembl chr X:139,965,509...140,074,355

G

LHFPL tetraspan subfamily member 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:108,815,596...108,873,460
Ensembl chr X:108,815,596...108,873,460

G

protein BEX1-like

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr 1:110,047,861...110,051,812

G

small nucleolar RNA SNORA11

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:19,735,030...19,735,144
Ensembl chr X:19,735,030...19,735,144

G

LON peptidase N-terminal domain and ring finger 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:115,565,214...115,603,886
Ensembl chr X:115,565,267...115,598,809

G

lysophosphatidic acid receptor 4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:72,033,486...72,046,978
Ensembl chr X:72,033,486...72,046,977

G

leucine rich repeats and calponin homology domain containing 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:111,091,728...111,174,225
Ensembl chr X:111,092,814...111,174,210

G

leucine zipper protein 4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:111,280,490...111,321,363
Ensembl chr X:111,280,549...111,321,359

G

MAGE family member A10

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:150,212,708...150,217,954
Ensembl chr X:150,213,245...150,214,213

G

MAGE family member A9

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:142,619,282...142,624,654
Ensembl chr X:142,619,395...142,624,653

G

MAGE family member B1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:50,915,789...50,921,863

G

MAGE family member B16

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:43,693,205...43,725,664
Ensembl chr X:43,693,211...43,725,657

G

MAGE family member B18

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:56,885,991...56,888,245
Ensembl chr X:56,885,991...56,888,245

G

MAGE family member B2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:50,827,538...50,833,272
Ensembl chr X:50,827,563...50,833,151

G

MAGE family member B3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:50,865,484...50,866,479
Ensembl chr X:50,865,484...50,866,479

G

MAGE family member B5

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:56,478,928...56,495,736
Ensembl chr X:56,478,948...56,496,921

G

MAGE family member B6

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:56,493,231...56,494,699
Ensembl chr X:56,492,713...56,494,541

G

MAGE family member C2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:140,610,610...140,615,484
Ensembl chr X:140,606,825...140,615,471

G

MAGE family member D1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:59,422,715...59,429,381
Ensembl chr X:59,422,717...59,429,364

G

MAGE family member D2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:19,733,593...19,741,769
Ensembl chr X:19,733,597...19,740,477

G

MAGE family member E1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:70,189,242...70,192,789
Ensembl chr X:70,189,187...70,192,810

G

MAGE family member E2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:69,885,751...69,944,824
Ensembl chr X:69,942,533...69,944,657

G

MAGE family member H1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:18,350,015...18,351,271
Ensembl chr X:18,349,774...18,351,516

G

MAGI family member, X-linked

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,824,114...14,832,466
Ensembl chr X:14,824,188...14,831,045

G

magnesium transporter 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:71,038,489...71,079,704
Ensembl chr X:71,038,489...71,079,699

G

monoamine oxidase A

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:6,032,172...6,098,308
Ensembl chr X:6,030,795...6,099,593

G

monoamine oxidase B

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:5,907,327...6,010,996
Ensembl chr X:5,907,266...6,011,003

G

mitogen-activated protein kinase kinase kinase 15

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:34,713,150...34,859,054
Ensembl chr X:34,713,175...34,858,807

G

MAP7 domain containing 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:35,372,453...35,488,073
Ensembl chr X:35,372,700...35,488,091

G

MAP7 domain containing 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

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

G

muscleblind-like splicing regulator 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:130,641,942...130,737,179
Ensembl chr X:130,648,538...130,737,056

G

membrane-bound transcription factor peptidase, site 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:37,410,914...37,461,130
Ensembl chr X:37,410,811...37,464,430

G

MCF.2 cell line derived transforming sequence

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:138,414,077...138,514,828
Ensembl chr X:138,409,256...138,514,446

G

MCTS1, re-initiation and release factor

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:117,350,723...117,362,504
Ensembl chr X:117,350,889...117,362,504

G

methyl CpG binding protein 2

susceptibility

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE | ClinVar Annotator: match by term: MECP2 duplication syndrome | ClinVar Annotator: match by term: Mental retardation, X-linked, Lubs type | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

CTD
OMIM
ClinVar

PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:2323808 More...

NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689

G

mediator complex subunit 12

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387

G

mediator complex subunit 14

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:10,036,749...10,127,910
Ensembl chr X:10,036,805...10,126,240

G

MID1 interacting protein 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:12,060,993...12,063,318
Ensembl chr X:12,060,883...12,065,774

G

midline 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:104,354,692...104,456,757
Ensembl chr X:104,355,316...104,453,473

G

microRNA 105

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:150,438,529...150,438,601
Ensembl chr X:150,438,529...150,438,601

G

microRNA 106a

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:132,422,584...132,422,661
Ensembl chr X:132,422,584...132,422,661

G

microRNA 19b-2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:132,422,072...132,422,167
Ensembl chr X:132,422,072...132,422,167

G

microRNA 221

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:3,429,465...3,429,573
Ensembl chr X:3,429,465...3,429,573

G

microRNA 222

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006

G

microRNA 223

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996

G

microRNA 224

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:150,065,088...150,065,169
Ensembl chr X:150,065,088...150,065,169

G

microRNA 322

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:132,806,594...132,806,688
Ensembl chr X:132,806,594...132,806,688

G

microRNA 3585

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More...

NCBI chr X:146,662,031...146,662,148
Ensembl chr X:146,662,031...146,662,148

G

microRNA 448

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:110,829,918...110,830,029
Ensembl chr X:110,829,918...110,830,029

G

microRNA 500

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:15,258,778...15,258,857
Ensembl chr X:15,258,768...15,258,859

G

microRNA 503

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:132,806,303...132,806,373
Ensembl chr X:132,806,303...132,806,373

G

microRNA 509

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More...

NCBI chr X:146,688,132...146,688,216
Ensembl chr X:146,688,132...146,688,216

G

microRNA 532

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:15,247,315...15,247,393
Ensembl chr X:15,247,315...15,247,393

G

microRNA 98

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:20,981,235...20,981,342
Ensembl chr X:20,981,235...20,981,342

G

microRNA let-7f-2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:20,980,632...20,980,714
Ensembl chr X:20,980,632...20,980,714

G

membrane magnesium transporter 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:134,408,463...134,420,798
Ensembl chr X:134,408,466...134,420,729

G

MORC family CW-type zinc finger 4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:103,477,366...103,529,026
Ensembl chr X:103,480,603...103,528,956

G

mortality factor 4 like 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:100,082,562...100,093,658
Ensembl chr X:100,082,404...100,093,728

G

motile sperm domain containing 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:133,100,200...133,127,960
Ensembl chr X:133,100,422...133,127,908
Ensembl chr 1:133,100,422...133,127,908

G

mitochondrial pyruvate carrier 1-like

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:10,146,274...10,147,145
Ensembl chr X:10,146,293...10,147,145

G

moesin

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:60,996,043...61,064,011
Ensembl chr X:60,995,951...61,065,628

G

myotubularin 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr 6:488,923...506,882
Ensembl chr 6:488,969...506,860

G

myotubularin related protein 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr18:215,031...248,541
Ensembl chr18:215,089...248,541

G

N(alpha)-acetyltransferase 10, NatA catalytic subunit

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252

G

NALCN channel auxiliary factor 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:64,925,100...64,951,074
Ensembl chr X:64,925,051...64,951,077

G

nucleosome assembly protein 1-like 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:68,174,051...68,176,449
Ensembl chr X:68,173,987...68,176,666

G

nucleosome assembly protein 1-like 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:88,347,595...88,350,393
Ensembl chr X:88,347,598...88,350,393

G

norrin cystine knot growth factor NDP

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:5,796,487...5,820,934
Ensembl chr X:5,796,487...5,820,934

G

NADH:ubiquinone oxidoreductase subunit A1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:116,424,223...116,427,875
Ensembl chr X:116,424,223...116,428,633

G

NADH:ubiquinone oxidoreductase subunit B11

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:1,572,805...1,575,063
Ensembl chr X:1,572,785...1,575,062

G

neurite extension and migration factor

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:69,088,076...69,219,253
Ensembl chr X:69,088,076...69,112,930

G

NHS actin remodeling regulator

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:32,553,300...32,892,961
Ensembl chr X:32,552,026...32,889,992

G

NHS-like 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:66,969,953...67,209,464
Ensembl chr X:66,970,151...67,200,911

G

NFKB activating protein

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:116,373,031...116,392,677
Ensembl chr X:116,372,839...116,394,945

G

NFKB repressing factor

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:116,126,341...116,144,554
Ensembl chr X:116,128,798...116,144,628

G

neuroligin 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:66,427,926...66,457,378
Ensembl chr X:66,429,458...66,451,876

G

non-POU domain containing, octamer-binding

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952

G

NADPH oxidase 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236

G

nuclear receptor subfamily 0, group B, member 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:50,756,886...50,761,014
Ensembl chr X:50,756,886...50,761,011

G

Nik related kinase

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:102,365,765...102,462,957
Ensembl chr X:102,365,765...102,459,657

G

NAD(P) dependent steroid dehydrogenase-like

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

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

G

nudix hydrolase 11

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:16,326,775...16,333,396
Ensembl chr X:16,326,598...16,333,145

G

nucleoporin 62 C-terminal like

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:103,668,458...103,724,957
Ensembl chr X:103,668,455...103,724,081

G

nuclear RNA export factor 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:98,135,953...98,157,117
Ensembl chr X:98,135,950...98,157,089

G

nuclear RNA export factor 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:99,025,901...99,050,409
Ensembl chr X:99,025,901...99,039,261

G

nuclear RNA export factor 7

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:98,535,374...98,552,562
Ensembl chr X:98,535,375...98,552,526

G

nuclear transport factor 2-like export factor 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:105,855,616...105,862,902
Ensembl chr X:105,855,608...105,862,899

G

nyctalopin

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:9,280,864...9,301,900
Ensembl chr X:9,280,864...9,301,900

G

OCRL, inositol polyphosphate-5-phosphatase

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:127,089,508...127,140,362
Ensembl chr X:127,089,590...127,140,362

G

O-linked N-acetylglucosamine (GlcNAc) transferase

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:66,771,278...66,816,148
Ensembl chr X:66,771,349...66,816,146

G

oligophrenin 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:63,599,746...63,976,678
Ensembl chr X:63,603,042...63,976,633

G

opsin 1, medium wave sensitive

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388

G

ornithine transcarbamylase

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918

G

OTU deubiquitinase 5

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,626,173...14,659,331
Ensembl chr X:14,626,164...14,659,573

G

OTU deubiquitinase 6A

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:65,514,113...65,516,287
Ensembl chr X:65,514,191...65,515,063

G

P2Y receptor family member 10

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:72,121,558...72,207,174
Ensembl chr X:72,111,264...72,212,265

G

pyrimidinergic receptor P2Y4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:65,681,680...65,717,404
Ensembl chr X:65,683,232...65,721,748

G

PABIR family member 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:132,989,124...133,015,625
Ensembl chr X:132,989,124...133,015,580

G

PABIR family member 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:133,020,162...133,083,801
Ensembl chr X:133,020,190...133,083,805

G

poly(A) binding protein, cytoplasmic 1-like 2A

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:68,023,845...68,026,508

G

poly(A) binding protein cytoplasmic 1 like 2B

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

G

poly A binding protein, cytoplasmic 5

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:85,637,763...85,641,235
Ensembl chr X:85,638,574...85,639,722

G

p21 (RAC1) activated kinase 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:107,116,308...107,374,342
Ensembl chr X:107,260,898...107,368,314

G

PAS domain containing repressor 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:149,617,933...149,639,214
Ensembl chr X:149,620,972...149,638,675

G

polysaccharide biosynthesis domain containing 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:70,154,106...70,197,827
Ensembl chr X:70,154,106...70,184,552

G

protocadherin 11 X-linked

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:86,058,348...86,751,078
Ensembl chr X:86,058,394...86,747,036

G

protocadherin 19

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:96,767,686...96,873,477
Ensembl chr X:96,771,947...96,873,524

G

proprotein convertase subtilisin/kexin type 1 inhibitor

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,580,036...14,583,478
Ensembl chr X:14,580,038...14,583,566

G

phosphate cytidylyltransferase 1B, choline

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:58,378,090...58,471,623
Ensembl chr X:58,378,116...58,468,935

G

pyruvate dehydrogenase E1 subunit alpha 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:34,700,481...34,714,309
Ensembl chr X:34,700,409...34,714,311

G

pyruvate dehydrogenase kinase 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:58,486,699...58,553,533
Ensembl chr X:58,486,554...58,553,557

G

PDZ domain containing 11

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:65,718,689...65,721,742
Ensembl chr X:65,704,067...65,721,642

G

PDZ domain containing 4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826

G

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:19,508,522...19,562,165
Ensembl chr X:19,508,546...19,562,182

G

phosphoglycerate kinase 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:71,271,454...71,287,429
Ensembl chr X:71,271,440...71,287,418

G

progesterone receptor membrane component 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:115,832,865...115,841,060
Ensembl chr X:115,832,884...115,888,682

G

phosphate regulating endopeptidase X-linked

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:37,607,553...37,856,183
Ensembl chr X:37,610,760...37,854,469

G

PHD finger protein 6

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127

G

PHD finger protein 8

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:20,524,103...20,623,459
Ensembl chr X:20,524,558...20,623,410

G

phosphorylase kinase regulatory subunit alpha 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:67,601,302...67,738,504
Ensembl chr X:67,601,302...67,738,455

G

phosphorylase kinase regulatory subunit alpha 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:34,170,959...34,293,498
Ensembl chr X:34,171,323...34,293,466

G

phosphatidylinositol glycan anchor biosynthesis, class A

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804

G

Pim-2 proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,617,582...14,622,851
Ensembl chr X:14,617,582...14,622,851

G

peptidylprolyl cis/trans isomerase, NIMA-interacting 4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:67,232,066...67,238,709
Ensembl chr X:67,232,081...67,238,702

G

pirin

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:30,108,536...30,219,269
Ensembl chr X:30,108,538...30,219,218

G

praja ring finger ubiquitin ligase 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:64,580,938...64,585,846
Ensembl chr X:64,580,849...64,585,833

G

placenta enriched 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:132,821,347...132,955,143
Ensembl chr X:132,821,347...132,985,668

G

proteolipid protein 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:100,184,039...100,201,035
Ensembl chr X:100,185,767...100,201,032

G

proteolipid protein 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,834,249...14,837,648
Ensembl chr X:14,834,231...14,838,514

G

plastin 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:111,589,193...111,683,908
Ensembl chr X:111,589,254...111,683,891

G

plexin A3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More...

NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603

G

plexin B3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674

G

pregnancy up-regulated nonubiquitous CaM kinase

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:151,369,406...151,373,508
Ensembl chr X:151,369,410...151,373,446

G

PNMA family member 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:150,906,080...150,912,674
Ensembl chr X:150,906,278...150,910,839

G

PNMA family member 5

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:150,880,865...150,882,789
Ensembl chr X:150,880,865...150,882,789

G

PNMA family member 6E

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:151,103,531...151,108,630
Ensembl chr X:151,103,755...151,106,037

G

POF1B, actin binding protein

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:77,683,128...77,749,827
Ensembl chr X:77,683,128...77,749,688

G

DNA polymerase alpha 1, catalytic subunit

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:58,034,617...58,348,612
Ensembl chr X:58,034,619...58,348,536

G

porcupine O-acyltransferase

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,285,864...14,298,481
Ensembl chr X:14,285,871...14,298,481

G

POU class 3 homeobox 4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:75,858,646...75,859,923
Ensembl chr X:75,858,646...75,859,923

G

protein phosphatase with EF-hand domain 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:33,994,503...34,151,704
Ensembl chr X:34,021,350...34,151,701

G

protein phosphatase 1, regulatory subunit 3F

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,915,740...14,945,249
Ensembl chr X:14,929,323...14,945,193

G

polyglutamine binding protein 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,603,516...14,608,091
Ensembl chr X:14,603,539...14,608,087

G

PRA1 domain family, member 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,773,398...14,776,035
Ensembl chr X:14,773,420...14,775,909

G

peroxiredoxin 4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:40,026,762...40,044,066
Ensembl chr X:40,026,651...40,044,066

G

prickle planar cell polarity protein 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218

G

phosphoribosyl pyrophosphate synthetase 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187

G

proline rich 32

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:123,978,010...123,979,928
Ensembl chr X:123,977,985...123,979,942

G

proline rich and Gla domain 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:42,494,256...42,606,612
Ensembl chr X:42,494,256...42,606,588

G

proline rich and Gla domain 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:149,666,498...149,689,353
Ensembl chr X:149,670,257...149,677,373

G

proteasome 26S subunit, non-ATPase 10

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:104,656,809...104,665,122
Ensembl chr X:104,656,812...104,665,097

G

patched domain containing 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:39,681,910...39,733,416
Ensembl chr X:39,681,910...39,733,519

G

PWWP domain containing 3B

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:102,804,416...102,838,580
Ensembl chr X:102,804,520...102,838,574

G

PWWP domain containing 4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More...

NCBI chr X:151,008,141...151,014,223
Ensembl chr X:151,008,123...151,014,216

G

RAB33A, member RAS oncogene family

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378

G

RAB9B, member RAS oncogene family

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:100,220,897...100,231,591
Ensembl chr X:100,220,894...100,231,701

G

RPA1 related single stranded DNA binding protein, X-linked

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:103,089,284...103,176,840
Ensembl chr X:103,089,284...103,176,838

G

retinoic acid induced 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:32,948,656...33,011,222
Ensembl chr X:32,948,656...33,011,264

G

RAP2C, member of RAS oncogene family

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:130,504,554...130,517,671
Ensembl chr X:130,504,698...130,518,328

G

RB binding protein 7, chromatin remodeling factor

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:31,913,080...31,931,245
Ensembl chr X:31,913,081...31,931,226

G

RNA binding motif protein 10

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:1,540,399...1,572,571
Ensembl chr X:1,540,398...1,572,575

G

RNA binding motif protein 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,348,909...14,352,387
Ensembl chr X:14,348,910...14,353,580

G

RNA binding motif protein 41

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:103,605,732...103,660,381
Ensembl chr X:103,608,585...103,660,381

G

RNA binding motif protein, X-linked

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

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

G

RNA binding motif protein, X-linked 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:127,888,514...127,896,239
Ensembl chr X:127,888,438...127,896,869

G

renin binding protein

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516

G

RALBP1 associated Eps domain containing 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:32,049,455...32,322,317
Ensembl chr X:32,049,399...32,317,414

G

regucalcin

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:1,619,030...1,634,456
Ensembl chr X:1,619,032...1,634,450

G

Rhox homeobox family member 13

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:116,911,226...116,917,758
Ensembl chr X:116,911,329...116,917,644

G

Rhox homeobox family member 2B

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:116,507,488...116,514,240
Ensembl chr X:116,507,488...116,513,870

G

RIB43A domain with coiled-coils 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:21,091,717...21,103,688
Ensembl chr X:21,091,717...21,103,200

G

ripply transcriptional repressor 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:103,436,731...103,440,904
Ensembl chr X:103,436,729...103,443,349

G

ring finger protein, LIM domain interacting

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:68,983,259...69,004,368
Ensembl chr X:68,988,375...69,004,271

G

ring finger protein 113A1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:116,427,941...116,429,164
Ensembl chr X:116,427,684...116,433,762

G

ring finger protein 128

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:103,183,643...103,298,431
Ensembl chr X:103,183,831...103,298,423

G

RP2 activator of ARL3 GTPase

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:1,872,582...1,916,704
Ensembl chr X:1,873,306...1,916,688

G

retinitis pigmentosa GTPase regulator

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:12,566,447...12,628,171
Ensembl chr X:12,566,645...12,747,882

G

ribosomal protein L10

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More...

NCBI chr X:152,054,562...152,056,769
Ensembl chr X:152,054,452...152,056,761

G

ribosomal protein L36A

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:97,766,179...97,768,892
Ensembl chr X:97,766,179...97,768,892

G

ribosomal protein L39

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:116,327,216...116,330,211
Ensembl chr18:6,326,330...6,326,692
Ensembl chr X:6,326,330...6,326,692

G

ribosomal protein S4, X-linked

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:67,298,522...67,302,965
Ensembl chr X:67,298,525...67,303,019
Ensembl chr 4:67,298,525...67,303,019

G

ribosomal protein S6 kinase A3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:35,517,306...35,623,296
Ensembl chr X:35,517,306...35,623,207

G

ribosomal protein S6 kinase A6

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:76,353,316...76,454,502
Ensembl chr X:76,353,760...76,454,484

G

Ras-related GTP binding B

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:18,184,619...18,234,639
Ensembl chr X:18,184,992...18,234,639

G

retinoschisin 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

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

G

retrotransposon Gag like 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:71,947,343...71,951,008
Ensembl chr X:71,948,253...71,950,121

G

retrotransposon Gag like 4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:108,231,052...108,641,768
Ensembl chr X:108,633,651...108,640,050

G

retrotransposon Gag like 5

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:67,183,948...67,188,747
Ensembl chr X:67,184,154...67,188,809

G

retrotransposon Gag like 8A

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:133,414,027...133,415,240
Ensembl chr X:133,414,030...133,415,240

G

retrotransposon Gag like 9

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:106,708,454...106,720,607
Ensembl chr X:106,714,868...106,719,794

G

S100 calcium binding protein G

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:31,705,853...31,708,422
Ensembl chr X:31,705,866...31,708,433

G

SAM and SH3 domain containing 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:127,326,815...127,341,521
Ensembl chr X:127,326,859...127,341,519

G

spermidine/spermine N1-acetyl transferase 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:40,158,354...40,161,641
Ensembl chr X:40,157,046...40,196,813

G

spermidine/spermine N1-acetyl transferase-like 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:77,453,357...77,469,100
Ensembl chr X:77,453,357...77,469,158

G

Scm polycomb group protein like 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:32,893,100...32,912,686
Ensembl chr X:32,894,327...32,911,366

G

Scm polycomb group protein like 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:33,523,179...33,677,672
Ensembl chr X:33,524,530...33,652,742

G

septin 6

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:116,153,255...116,230,334
Ensembl chr X:116,153,255...116,230,115

G

serpin family A member 7

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:102,663,242...102,722,319
Ensembl chr X:102,663,405...102,669,040

G

SH2 domain containing 1A

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:121,373,693...121,401,923

G

SH3 domain binding glutamate rich protein like 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:74,167,029...74,263,783
Ensembl chr X:74,166,871...74,263,783

G

SH3 domain-containing kinase-binding protein 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:34,877,862...35,223,013
Ensembl chr X:34,877,866...35,222,747

G

shroom family member 4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:15,869,065...16,076,850
Ensembl chr X:15,869,065...16,076,869

G

solute carrier family 10, member 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More...

NCBI chr X:152,154,757...152,158,563
Ensembl chr X:152,151,076...152,162,958

G

solute carrier family 16 member 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:68,725,365...68,848,572
Ensembl chr X:68,723,261...68,848,771

G

solute carrier family 25 member 14

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:127,807,630...127,845,823
Ensembl chr X:127,807,449...127,845,823

G

solute carrier family 25, member 43

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:115,977,437...116,011,789
Ensembl chr X:115,977,510...116,011,205

G

solute carrier family 25 member 5

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:116,031,896...116,034,963
Ensembl chr X:116,031,803...116,034,967

G

solute carrier family 25, member 53

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:100,306,917...100,319,662
Ensembl chr X:100,306,915...100,319,863

G

solute carrier family 35 member A2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,608,145...14,616,937
Ensembl chr X:14,608,055...14,616,678

G

solute carrier family 38, member 5

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,213,727...14,222,498
Ensembl chr X:14,213,729...14,222,498

G

solute carrier family 6 member 14

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:112,314,643...112,375,412
Ensembl chr X:112,314,691...112,375,096

G

solute carrier family 6 member 8

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979

G

solute carrier family 7 member 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:66,210,071...66,216,482
Ensembl chr X:66,210,081...66,215,708

G

solute carrier family 9 member A6

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

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

G

solute carrier family 9 member A7

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:2,214,064...2,395,052
Ensembl chr X:2,214,441...2,388,012

G

SLIT and NTRK-like family, member 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:145,246,448...145,259,983
Ensembl chr X:145,246,460...145,271,220

G

SLIT and NTRK-like family, member 4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:142,706,495...142,718,968
Ensembl chr X:142,706,338...142,718,575

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:126,980,201...127,066,385
Ensembl chr X:126,994,947...127,066,347

G

structural maintenance of chromosomes 1A

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056

G

small muscle protein, X-linked

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:37,233,209...37,292,266
Ensembl chr X:37,234,294...37,276,708

G

spermine synthase

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:37,516,949...37,572,657
Ensembl chr X:37,516,931...37,570,822

G

sorting nexin 12

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:66,226,995...66,356,945
Ensembl chr X:66,227,053...66,356,950

G

sosondowah ankyrin repeat domain family member D

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:116,292,030...116,293,660
Ensembl chr X:116,292,030...116,293,660

G

SRY-box transcription factor 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:139,308,608...139,310,687
Ensembl chr X:139,309,329...139,310,678

G

sperm acrosome associated 5

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:918,817...922,000
Ensembl chr X:918,817...922,049

G

spindlin family member 2A

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:17,511,018...17,513,001
Ensembl chr X:17,511,022...17,513,001

G

spindlin family member 2B

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:17,190,573...17,192,351
Ensembl chr X:17,180,474...17,192,351

G

spindlin family, member 4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:59,888,728...59,892,817
Ensembl chr X:59,891,581...59,892,330

G

SRSF protein kinase 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198

G

sushi-repeat-containing protein, X-linked

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:12,676,984...12,751,296
Ensembl chr X:12,566,645...12,747,882

G

sushi-repeat-containing protein, X-linked 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:97,106,455...97,132,197
Ensembl chr X:97,106,561...97,132,195

G

signal sequence receptor subunit 4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202

G

SSX family member 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:13,931,433...13,939,732
Ensembl chr X:13,931,470...13,939,720

G

SSX family member 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:698,867...715,891
Ensembl chr X:698,882...715,907

G

STAG2 cohesin complex component

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:120,974,687...121,105,677
Ensembl chr X:120,974,857...121,105,677

G

StAR-related lipid transfer domain containing 8

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:64,079,079...64,196,052
Ensembl chr X:64,124,574...64,196,052

G

STING1 ER exit protein 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:116,087,626...116,114,159
Ensembl chr X:116,060,929...116,114,159

G

serine/threonine kinase 26

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:130,325,064...130,375,674
Ensembl chr X:130,310,885...130,374,291

G

Supt20h like 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:58,708,504...58,758,962
Ensembl chr X:58,708,504...58,758,960

G

SUPT20H like 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:58,645,548...58,653,436
Ensembl chr X:58,646,432...58,649,965

G

SUV39H1 histone lysine methyltransferase

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,421,028...14,433,993
Ensembl chr X:14,421,109...14,433,982

G

SUV39H1 histone lysine methyltransferase, pseudogene 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:141,792,589...141,795,257

G

synapse associated protein 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:31,792,180...31,826,672
Ensembl chr X:31,792,193...31,826,667

G

synapsin I

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:1,172,208...1,227,400
Ensembl chr X:1,172,208...1,227,396

G

synaptophysin

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,849,444...14,864,553
Ensembl chr X:14,849,444...14,864,745

G

synaptotagmin-like 4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:97,135,496...97,185,867
Ensembl chr X:97,135,500...97,185,854

G

synaptotagmin-like 5

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:12,775,529...13,030,134
Ensembl chr X:12,788,698...13,030,175

G

TGF-beta activated kinase 1 (MAP3K7) binding protein 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:49,972,414...50,044,658
Ensembl chr X:49,972,330...50,042,056

G

TATA-box binding protein associated factor 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:66,640,915...66,716,543
Ensembl chr X:66,640,982...66,716,543

G

TATA-box binding protein associated factor 7-like

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:97,660,222...97,675,241
Ensembl chr X:97,660,222...97,675,023

G

TATA-box binding protein associated factor 9b

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:71,289,290...71,300,142
Ensembl chr X:71,289,290...71,300,604

G

tafazzin, phospholipid-lysophospholipid transacylase

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More...

NCBI chr X:152,065,539...152,076,178
Ensembl chr X:152,065,609...152,074,001

G

TLR adaptor interacting with endolysosomal SLC15A4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:50,403,962...50,423,141
Ensembl chr X:50,361,248...50,423,269

G

TBC1 domain family, member 25

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,314,095...14,339,171
Ensembl chr X:14,314,414...14,338,275

G

TBC1 domain family member 8B

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:103,319,181...103,407,137
Ensembl chr X:103,319,340...103,407,133

G

T-box transcription factor 22

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:72,723,619...72,774,647
Ensembl chr X:72,723,617...72,774,647

G

transcription elongation factor A like 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:100,058,485...100,060,439
Ensembl chr X:100,058,132...100,060,551

G

transcription elongation factor A like 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:100,010,677...100,012,637
Ensembl chr X:100,010,690...100,012,654

G

transcription elongation factor A like 5

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:99,204,422...99,207,373
Ensembl chr X:99,204,429...99,207,353

G

transcription elongation factor A like 7

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:99,228,405...99,230,551
Ensembl chr X:99,228,458...99,230,543

G

transcription elongation factor A like 8

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:99,171,307...99,173,377
Ensembl chr X:99,171,177...99,173,710

G

transcription elongation factor A like 9

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:99,245,645...99,247,720
Ensembl chr X:99,228,458...99,247,763

G

t-complex 11 family, X-linked 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:98,591,191...98,640,800
Ensembl chr X:98,591,189...98,640,763

G

teneurin transmembrane protein 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:121,400,466...122,289,877
Ensembl chr X:121,403,649...122,290,207

G

terminal nucleotidyltransferase 5D

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:72,901,287...72,974,562
Ensembl chr X:72,901,241...72,970,573

G

testis expressed 11

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:65,932,904...66,196,525
Ensembl chr X:65,932,988...66,196,187

G

testis expressed 13A

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:101,598,992...101,601,951
Ensembl chr X:101,600,495...101,601,933

G

testis expressed 13B

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:104,490,937...104,511,224
Ensembl chr X:104,490,091...104,494,201

G

testis expressed 28

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567

G

transcription factor binding to IGHM enhancer 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,729,547...14,742,830
Ensembl chr X:14,729,550...14,742,571

G

TGFB-induced factor homeobox 2-like, X-linked 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:84,109,203...84,110,264
Ensembl chr X:84,109,220...84,110,274

G

THO complex subunit 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:120,634,966...120,749,569
Ensembl chr X:120,634,968...120,749,513

G

translocase of inner mitochondrial membrane 17b

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,596,330...14,603,491
Ensembl chr X:14,594,577...14,603,416

G

translocase of inner mitochondrial membrane 8A1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:97,717,932...97,722,170
Ensembl chr X:97,717,920...97,721,960

G

TIMP metallopeptidase inhibitor 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664

G

transketolase-like 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208

G

transmembrane protein 164

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:106,288,019...106,448,642
Ensembl chr X:106,289,371...106,448,640

G

transmembrane protein 185A

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:149,143,026...149,167,757
Ensembl chr X:149,143,031...149,167,757

G

transmembrane protein 255A

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:116,970,793...117,035,008
Ensembl chr X:116,970,695...117,035,008

G

transmembrane protein 35A

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:97,503,350...97,514,198
Ensembl chr X:97,503,350...97,514,197

G

transmembrane protein 47

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:45,421,405...45,447,900
Ensembl chr X:45,421,405...45,447,900

G

thymosin beta 15B2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:100,298,705...100,300,820
Ensembl chr X:100,298,514...100,300,886

G

tenomodulin

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:97,057,137...97,072,634
Ensembl chr X:97,057,137...97,072,634

G

three prime repair exonuclease 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:151,151,862...151,153,470
Ensembl chr X:151,151,864...151,153,479

G

tRNA methyltransferase 2 homolog B

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:97,425,712...97,483,821

G

trophinin

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:19,563,395...19,574,507
Ensembl chr X:19,563,517...19,572,953

G

transient receptor potential cation channel, subfamily C, member 5

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:107,946,163...108,230,991
Ensembl chr X:107,939,131...108,230,991

G

TRPC5 opposite strand

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:108,025,172...108,044,201
Ensembl chr X:108,024,924...108,046,581

G

TSC22 domain family, member 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:104,217,898...104,277,886
Ensembl chr X:104,217,925...104,276,861

G

tetraspanin 6

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:97,092,394...97,099,659
Ensembl chr X:97,092,388...97,099,309

G

tetraspanin 7

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:12,208,783...12,306,092
Ensembl chr X:12,208,783...12,306,131

G

TSPY-like 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:21,439,478...21,445,208
Ensembl chr X:21,439,478...21,445,089

G

TSR2, ribosome maturation factor

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:20,064,102...20,072,673
Ensembl chr X:20,064,103...20,072,620

G

taxilin gamma

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:31,864,111...31,912,931
Ensembl chr X:31,864,111...31,912,926

G

ubiquitin-like modifier activating enzyme 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:1,508,700...1,530,677
Ensembl chr X:1,508,666...1,530,636

G

ubiquitin-conjugating enzyme E2A

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:116,114,339...116,125,076
Ensembl chr X:116,113,875...116,125,070

G

ubiquitin-like 4A

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More...

NCBI chr X:152,151,242...152,154,094
Ensembl chr X:152,151,460...152,154,069

G

ubiquilin 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:17,853,086...17,856,505
Ensembl chr X:17,853,114...17,856,505

G

UPF3B, regulator of nonsense mediated mRNA decay

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:116,335,308...116,353,332
Ensembl chr X:116,335,308...116,353,236

G

uracil phosphoribosyltransferase homolog

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:69,516,573...69,546,811
Ensembl chr X:69,516,738...69,546,797

G

ubiquitin specific peptidase 11

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:1,473,349...1,489,520
Ensembl chr X:1,473,350...1,489,520

G

ubiquitin specific peptidase 26

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:131,317,200...131,363,964
Ensembl chr X:131,319,194...131,363,970

G

ubiquitin specific peptidase 27, X-linked

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:15,123,620...15,126,855
Ensembl chr X:15,124,596...15,125,912

G

ubiquitin specific peptidase 51

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:18,374,940...18,381,472
Ensembl chr X:18,376,930...18,379,888

G

ubiquitin specific peptidase 9, X-linked

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:9,588,825...9,726,993
Ensembl chr X:9,588,825...9,696,711

G

UTP14A small subunit processome component

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:127,439,282...127,464,634
Ensembl chr X:127,439,268...127,464,633

G

ubiquitously-expressed, prefoldin-like chaperone

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:1,126,110...1,138,670
Ensembl chr X:1,126,162...1,138,663

G

VCP nuclear cofactor family member 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:19,310,182...19,393,156
Ensembl chr X:19,349,560...19,378,486

G

vascular endothelial growth factor D

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:30,073,122...30,108,413
Ensembl chr X:30,074,163...30,108,295

G

vestigial-like family member 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

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

G

vacuolar ATPase assembly factor VMA21

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:149,491,709...149,501,010
Ensembl chr X:149,491,738...149,499,272

G

V-set and immunoglobulin domain containing 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:104,607,031...104,640,128
Ensembl chr X:104,607,031...104,639,249

G

V-set and immunoglobulin domain containing 4

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:61,144,926...61,170,212
Ensembl chr X:61,144,928...61,170,212

G

WASP actin nucleation promoting factor

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,405,105...14,413,850
Ensembl chr X:14,405,124...14,413,849

G

WD repeat domain 13

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,362,484...14,373,727
Ensembl chr X:14,362,860...14,373,727

G

WD repeat domain 44

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:114,481,890...114,587,307
Ensembl chr X:114,482,006...114,587,224

G

WD repeat domain 45

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:14,776,280...14,782,202
Ensembl chr X:14,776,293...14,782,202

G

WNK lysine deficient protein kinase 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:20,156,260...20,299,252
Ensembl chr X:20,157,041...20,296,821

G

X-linked inhibitor of apoptosis

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:120,890,537...120,938,413
Ensembl chr X:120,897,907...120,934,700

G

X inactive specific transcript

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:68,474,987...68,492,500

G

X-linked Kx blood group antigen, Kell and VPS13A binding protein

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:13,436,412...13,472,830
Ensembl chr X:13,436,418...13,472,830

G

XK related, X-linked

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:97,341,158...97,353,175
Ensembl chr X:97,341,152...97,354,759

G

X-prolyl aminopeptidase 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:127,287,765...127,317,036
Ensembl chr X:127,287,979...127,317,223

G

Yip1 domain family, member 6

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:64,039,602...64,051,715
Ensembl chr X:64,040,952...64,054,702

G

YY2 transcription factor

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:37,438,425...37,442,047
Ensembl chr X:37,410,811...37,464,430

G

zinc finger and BTB domain containing 33

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:116,963,337...116,970,547
Ensembl chr X:116,963,347...116,971,023

G

zinc finger CCCH-type containing 12B

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:60,615,616...60,849,278
Ensembl chr X:60,615,682...60,844,832

G

zinc finger C4H2-type containing

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:60,525,706...60,546,519
Ensembl chr X:60,525,712...60,546,488

G

zinc finger CCHC-type containing 12

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:115,433,444...115,436,691
Ensembl chr X:115,433,259...115,436,692

G

zinc finger CCHC-type containing 13

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:68,643,568...68,644,671
Ensembl chr X:68,643,549...68,665,131

G

zinc finger DHHC-type palmitoyltransferase 15

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:69,568,086...69,701,756
Ensembl chr X:69,574,124...69,701,756

G

zinc finger DHHC-type palmitoyltransferase 9

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:127,352,340...127,388,245
Ensembl chr X:127,352,345...127,388,245

G

zinc finger protein 157

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr12:16,248,230...16,279,459
Ensembl chr12:16,248,230...16,270,698

G

zinc finger protein 182

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:927,439...1,001,474
Ensembl chr X:899,439...1,000,954

G

zinc finger protein 185

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:150,831,869...150,877,652
Ensembl chr X:150,831,862...150,874,810

G

zinc finger protein 275

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More...

NCBI chr X:151,057,530...151,074,392
Ensembl chr X:151,057,573...151,074,276

G

zinc finger protein 280C

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:127,716,403...127,807,600
Ensembl chr X:127,717,983...127,779,825

G

zinc finger protein 449

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:134,120,820...134,140,921
Ensembl chr X:134,122,636...134,140,924

G

zinc finger protein 711

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:77,646,300...77,679,398
Ensembl chr X:77,646,558...77,678,045

G

zinc finger protein 75D

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:134,035,116...134,053,765
Ensembl chr X:134,036,143...134,051,519

G

ZFP92 zinc finger protein

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...

NCBI chr X:151,116,794...151,142,451
Ensembl chr X:151,117,102...151,143,177

G

zinc finger protein X-linked

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:58,804,690...58,853,155
Ensembl chr X:58,804,691...58,853,265

G

Zic family member 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

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

G

zinc finger, matrin-type 1

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:98,168,388...98,199,415
Ensembl chr X:98,168,456...98,199,733

G

zinc finger MYM-type containing 3

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:66,528,585...66,544,234
Ensembl chr X:66,528,585...66,544,782

G

zinc finger protein 81

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:1,030,103...1,126,078
Ensembl chr X:1,036,153...1,126,102

G

zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125

G

zinc finger, X-linked, duplicated A

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr X:59,760,871...59,766,010
Ensembl chr X:59,763,210...59,765,903

G

zinc finger, X-linked, duplicated B

ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type

NCBI chr  X:59,700,765...59,706,737
Ensembl chr  X:59,701,178...59,703,871
Ensembl chr  X:59,701,178...59,703,871

transient myeloproliferative syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GATA binding protein 1

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

CTD
OMIM
ClinVar
RGD

PMID:24056718 PMID:27993330 PMID:14636651

NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530

G

RUNX family transcription factor 1

ClinVar Annotator: match by term: Transient myeloproliferative disorder of Down syndrome

PMID:10068652 PMID:12200707 PMID:15156185 PMID:23817177 PMID:28492532

NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

Trisomy

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 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

Warburton Anyane Yeboa Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BUB1 mitotic checkpoint serine/threonine kinase B

ClinVar Annotator: match by term: Warburton-Anyane-Yeboa syndrome

PMID:24728327 PMID:25741868 PMID:28492532

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

X Chromosome, Trisomy Xq25

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutamate ionotropic receptor AMPA type subunit 3

ClinVar Annotator: match by term: Xq25 duplication syndrome

NCBI chr X:120,238,515...120,504,106
Ensembl chr X:120,238,534...120,504,096

G

SH2 domain containing 1A

ClinVar Annotator: match by term: Xq25 duplication syndrome

NCBI chr X:121,373,693...121,401,923

G

STAG2 cohesin complex component

ClinVar Annotator: match by term: Xq25 duplication syndrome

NCBI chr X:120,974,687...121,105,677
Ensembl chr X:120,974,857...121,105,677

G

teneurin transmembrane protein 1

ClinVar Annotator: match by term: Xq25 duplication syndrome

NCBI chr X:121,400,466...122,289,877
Ensembl chr X:121,403,649...122,290,207

G

THO complex subunit 2

ClinVar Annotator: match by term: Xq25 duplication syndrome

NCBI chr X:120,634,966...120,749,569
Ensembl chr X:120,634,968...120,749,513

G

X-linked inhibitor of apoptosis

ClinVar Annotator: match by term: Xq25 duplication syndrome

NCBI chr X:120,890,537...120,938,413
Ensembl chr X:120,897,907...120,934,700

Term paths to the root

Path 1
Term	Annotations
disease	21128
syndrome	10833
chromosomal duplication syndrome	1105
7q11.23 duplication syndrome	0
Chromosome 10q Duplication Syndrome	0
Chromosome 16q12 Duplication Syndrome	0
Chromosome 17q23.1-q23.2 Duplication Syndrome	0
Chromosome Xq13 Duplication Syndrome	0
Chromosome Xq26.3 Duplication Syndrome	7
Chromosome Xq27.3-q28 Duplication Syndrome	0
Chromosome Xq28 Duplication Syndrome	0
Klinefelter syndrome	17
NF1 Microduplication Syndrome	0
Tetrasomy +	0
Trisomy +	370
Yuan-Harel-Lupski Syndrome	0
autosomal dominant nonsyndromic deafness 51	1
chromosome 16p11.2 duplication syndrome	29
chromosome 16p13.3 duplication syndrome	0
chromosome 17p13.3 duplication syndrome	5
chromosome 17q12 duplication syndrome	0
chromosome 17q21.31 duplication syndrome	0
chromosome 1p36.33 duplication syndrome	0
chromosome 1q21.1 duplication syndrome	9
chromosome 22q11.2 microduplication syndrome	44
chromosome 22q13 duplication syndrome	32
chromosome 2q31.1 duplication syndrome	0
chromosome 3q29 microduplication syndrome	0
chromosome 5p13 duplication syndrome	0
chromosome Xp11.22 duplication syndrome	1
chromosome Xp11.23-p11.22 duplication syndrome	0
hereditary mixed polyposis syndrome 1	4
partial trisomy distal 4q	0
split hand-foot malformation 3	1
syndactyly type 1	2
syndromic X-linked intellectual disability Lubs type	602
Path 2
Term	Annotations
disease	21128
Developmental Disease	18449
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	18309
genetic disease	18253
chromosomal disease	2728
chromosomal duplication syndrome	1105
7q11.23 duplication syndrome	0
Chromosome 10q Duplication Syndrome	0
Chromosome 16q12 Duplication Syndrome	0
Chromosome 17q23.1-q23.2 Duplication Syndrome	0
Chromosome Xq13 Duplication Syndrome	0
Chromosome Xq26.3 Duplication Syndrome	7
Chromosome Xq27.3-q28 Duplication Syndrome	0
Chromosome Xq28 Duplication Syndrome	0
Klinefelter syndrome	17
NF1 Microduplication Syndrome	0
Tetrasomy +	0
Trisomy +	370
Yuan-Harel-Lupski Syndrome	0
autosomal dominant nonsyndromic deafness 51	1
chromosome 16p11.2 duplication syndrome	29
chromosome 16p13.3 duplication syndrome	0
chromosome 17p13.3 duplication syndrome	5
chromosome 17q12 duplication syndrome	0
chromosome 17q21.31 duplication syndrome	0
chromosome 1p36.33 duplication syndrome	0
chromosome 1q21.1 duplication syndrome	9
chromosome 22q11.2 microduplication syndrome	44
chromosome 22q13 duplication syndrome	32
chromosome 2q31.1 duplication syndrome	0
chromosome 3q29 microduplication syndrome	0
chromosome 5p13 duplication syndrome	0
chromosome Xp11.22 duplication syndrome	1
chromosome Xp11.23-p11.22 duplication syndrome	0
hereditary mixed polyposis syndrome 1	4
partial trisomy distal 4q	0
split hand-foot malformation 3	1
syndactyly type 1	2
syndromic X-linked intellectual disability Lubs type	602

paths to the root