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RGD DISEASE ONTOLOGY - ANNOTATIONS

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:chromosome 15q11.2 deletion syndrome
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Accession:DOID:0060393 term browser browse the term
Definition:A chromosomal deletion syndrome that is characterized by intellectual disbaility, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. (DO)
Synonyms:exact_synonym: 15q11.2 microdeletion;   15q11.2 microdeletion syndrome;   chromosome 15q11-q13 duplication syndrome;   duplication 15q11-q13 syndrome
 primary_id: MESH:C557830
 alt_id: OMIM:615656
 xref: ORDO:261183



show annotations for term's descendants           Sort by:
chromosome 15q11.2 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC005696.1 novel transcript, antisense to CLUH IAGP ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr17:2,712,309...2,712,833
Ensembl chr17:2,712,309...2,712,833
JBrowse link
G AC138649.1 novel transcript, sense overlapping NIPA1 IAGP ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar NCBI chr15:22,757,857...22,778,737
Ensembl chr15:22,757,841...22,778,741
JBrowse link
G APBA2 amyloid beta precursor protein binding family A member 2 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:28,885,974...29,118,315
Ensembl chr15:28,884,483...29,118,315
JBrowse link
G ATP10A ATPase phospholipid transporting 10A (putative) IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:25,672,237...25,865,088
Ensembl chr15:25,677,273...25,865,184
JBrowse link
G ATP10A-DT ATP10A divergent transcript IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,865,270...25,877,210 JBrowse link
G AUTS2 activator of transcription and developmental regulator AUTS2 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25205402 PMID:25741868 PMID:28505103 NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506
JBrowse link
G CCDC92B coiled-coil domain containing 92B IAGP ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr17:2,720,801...2,749,652
Ensembl chr17:2,720,801...2,749,652
JBrowse link
G CHRFAM7A CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr15:30,360,566...30,393,900
Ensembl chr15:30,360,566...30,393,849
JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr15:32,030,483...32,173,018
Ensembl chr15:31,923,438...32,173,018
JBrowse link
G CLUH clustered mitochondria homolog IAGP ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr17:2,689,387...2,712,020
Ensembl chr17:2,689,386...2,712,663
JBrowse link
G CYFIP1 cytoplasmic FMR1 interacting protein 1 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome
ClinVar PMID:31690835 NCBI chr15:22,867,052...22,980,898
Ensembl chr15:22,867,052...22,981,063
JBrowse link
G ENTREP2 endosomal transmembrane epsin interactor 2 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:29,117,712...29,675,409
Ensembl chr15:29,120,252...29,570,979
JBrowse link
G GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:26,866,719...26,949,208
Ensembl chr15:26,866,911...26,949,208
JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:26,543,552...26,773,763
Ensembl chr15:26,543,552...26,939,539
JBrowse link
G GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:26,971,181...27,541,984
Ensembl chr15:26,971,181...27,541,984
JBrowse link
G GABRG3-AS1 GABRG3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:27,157,735...27,161,319
Ensembl chr15:27,038,978...27,161,319
JBrowse link
G GOLGA6L1 golgin A6 family like 1 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome
ClinVar PMID:31690835 NCBI chr15:23,127,066...23,136,822
Ensembl chr15:23,127,066...23,136,822
JBrowse link
G GOLGA6L2 golgin A6 family like 2 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:23,439,038...23,447,243
Ensembl chr15:23,439,038...23,447,243
JBrowse link
G GOLGA6L24 golgin A6 family like 24 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:28,347,851...28,358,084
Ensembl chr15:28,347,851...28,358,084
JBrowse link
G GOLGA6L25 golgin A6 family like 25 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:28,553,568...28,563,779
Ensembl chr15:28,553,568...28,563,779
JBrowse link
G GOLGA6L26 golgin A6 family like 26 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome
ClinVar PMID:31690835 NCBI chr15:23,324,535...23,334,196
Ensembl chr15:23,324,535...23,334,196
JBrowse link
G GOLGA6L7 golgin A6 family like 7 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:28,841,832...28,848,644
Ensembl chr15:28,841,832...28,848,675
JBrowse link
G GOLGA8F golgin A8 family member F IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:28,378,638...28,392,021
Ensembl chr15:28,378,621...28,392,021
JBrowse link
G GOLGA8G golgin A8 family member G IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:28,519,611...28,532,997
Ensembl chr15:28,519,611...28,533,014
JBrowse link
G GOLGA8J golgin A8 family member J IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr15:30,082,955...30,096,690
Ensembl chr15:30,082,955...30,096,690
JBrowse link
G GOLGA8M golgin A8 family member M IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:28,698,583...28,713,333
Ensembl chr15:28,719,377...28,738,431
Ensembl chr15:28,719,377...28,738,431
JBrowse link
G GOLGA8S golgin A8 family member S IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome
ClinVar PMID:31690835 NCBI chr15:23,354,748...23,368,489
Ensembl chr15:23,354,748...23,368,341
JBrowse link
G GOLGA8T golgin A8 family member T IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr15:30,135,051...30,148,748
Ensembl chr15:30,135,051...30,148,748
JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179
JBrowse link
G IPW imprinted in Prader-Willi syndrome IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:25,116,545...25,122,476 JBrowse link
G LCIIAR lung cancer immune cell infiltration associated lncRNA IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:29,674,935...29,679,163
Ensembl chr15:29,674,932...29,680,957
JBrowse link
G LINC00929 long intergenic non-protein coding RNA 929 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:26,115,813...26,133,037
Ensembl chr15:26,115,726...26,134,001
JBrowse link
G LINC02249 long intergenic non-protein coding RNA 2249 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr15:30,196,036...30,214,540
Ensembl chr15:30,195,809...30,217,552
JBrowse link
G LINC02250 long intergenic non-protein coding RNA 2250 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,456,271...25,578,806
Ensembl chr15:25,456,271...25,578,813
JBrowse link
G LINC02346 long intergenic non-protein coding RNA 2346 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,902,360...26,053,120
Ensembl chr15:25,902,119...26,053,123
JBrowse link
G LOC105371490 uncharacterized LOC105371490 IAGP ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr17:2,688,225...2,689,287 JBrowse link
G LOC112272575 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:22999149-22999824 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome
ClinVar PMID:31690835 NCBI chr15:22,873,244...22,873,919 JBrowse link
G LOC112272576 Sharpr-MPRA regulatory region 3977 IAGP ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar NCBI chr15:22,776,025...22,776,319 JBrowse link
G LOC112272578 H3K27ac hESC enhancers GRCh37_chr15:25017418-25018314 and GRCh37_chr15:25018315-25019210 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:24,772,271...24,774,063 JBrowse link
G LOC112272579 Sharpr-MPRA regulatory region 849 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:24,857,742...24,858,411 JBrowse link
G LOC112272580 Sharpr-MPRA regulatory region 4259 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:27,468,243...27,468,537 JBrowse link
G LOC112272581 Sharpr-MPRA regulatory region 3573 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:29,613,965...29,614,259 JBrowse link
G LOC121847940 Sharpr-MPRA regulatory region 7323 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,022,302...25,022,596 JBrowse link
G LOC125078046 Sharpr-MPRA regulatory region 5757 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,331,882...25,332,176 JBrowse link
G LOC125078047 Sharpr-MPRA regulatory region 718 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,481,582...25,481,876 JBrowse link
G LOC125078048 Sharpr-MPRA regulatory region 9219 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:26,118,782...26,119,076 JBrowse link
G LOC125078049 Sharpr-MPRA regulatory region 5301 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:27,177,142...27,177,436 JBrowse link
G LOC125078051 Sharpr-MPRA regulatory region 8593 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:29,533,725...29,534,019 JBrowse link
G LOC125078052 Sharpr-MPRA regulatory region 13292 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr15:29,925,886...29,926,180 JBrowse link
G LOC125078053 Sharpr-MPRA regulatory region 11410 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr15:31,867,846...31,868,140 JBrowse link
G LOC126862074 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:22990202-22991401 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome
ClinVar PMID:31690835 NCBI chr15:22,881,667...22,882,866 JBrowse link
G LOC126862075 BRD4-independent group 4 enhancer GRCh37_chr15:24001764-24002963 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:23,756,617...23,757,816 JBrowse link
G LOC126862076 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:25789643-25790842 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,544,496...25,545,695 JBrowse link
G LOC126862077 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:26791415-26792614 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:26,546,268...26,547,467 JBrowse link
G LOC126862078 BRD4-independent group 4 enhancer GRCh37_chr15:26860170-26861369 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:26,615,023...26,616,222 JBrowse link
G LOC126862079 BRD4-independent group 4 enhancer GRCh37_chr15:27034764-27035963 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:26,789,617...26,790,816 JBrowse link
G LOC126862080 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:27302839-27304038 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:27,057,692...27,058,891 JBrowse link
G LOC126862081 BRD4-independent group 4 enhancer GRCh37_chr15:27585914-27587113 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:27,340,767...27,341,966 JBrowse link
G LOC126862082 BRD4-independent group 4 enhancer GRCh37_chr15:27699000-27700199 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:27,453,854...27,455,053 JBrowse link
G LOC126862083 MED14-independent group 3 enhancer GRCh37_chr15:27939287-27940486 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:27,694,141...27,695,340 JBrowse link
G LOC126862084 BRD4-independent group 4 enhancer GRCh37_chr15:27958849-27960048 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:27,713,703...27,714,902 JBrowse link
G LOC126862085 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:30010173-30011372 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:29,717,969...29,719,168 JBrowse link
G LOC126862086 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:30052673-30053872 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:29,760,470...29,761,669 JBrowse link
G LOC126862087 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:30226175-30227374 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr15:29,933,972...29,935,171 JBrowse link
G LOC128772394 melanoma risk locus-associated MPRA allelic enhancer 15:28365618 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:28,120,400...28,120,544 JBrowse link
G LOC129390675 MPRA-validated peak2277 silencer IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:28,257,230...28,257,430 JBrowse link
G LOC129390676 MPRA-validated peak2278 silencer IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:28,373,589...28,373,789 JBrowse link
G LOC129390677 MPRA-validated peak2281 silencer IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:29,012,933...29,013,133 JBrowse link
G LOC129390678 MPRA-validated peak2283 silencer IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:29,449,252...29,449,452 JBrowse link
G LOC129390681 MPRA-validated peak2289 silencer IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr15:32,132,079...32,132,279 JBrowse link
G LOC129390822 MPRA-validated peak2687 silencer IAGP ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr17:2,782,366...2,782,566 JBrowse link
G LOC130056708 ATAC-STARR-seq lymphoblastoid silent region 6258 IAGP ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar NCBI chr15:22,757,879...22,758,108 JBrowse link
G LOC130056709 ATAC-STARR-seq lymphoblastoid silent region 6259 IAGP ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar NCBI chr15:22,786,512...22,786,871 JBrowse link
G LOC130056710 ATAC-STARR-seq lymphoblastoid silent region 6260 IAGP ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar NCBI chr15:22,786,942...22,787,091 JBrowse link
G LOC130056711 ATAC-STARR-seq lymphoblastoid silent region 6261 IAGP ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar NCBI chr15:22,787,102...22,787,231 JBrowse link
G LOC130056712 ATAC-STARR-seq lymphoblastoid active region 9154 IAGP ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar NCBI chr15:22,787,582...22,787,691 JBrowse link
G LOC130056713 ATAC-STARR-seq lymphoblastoid active region 9155 IAGP ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar NCBI chr15:22,796,785...22,797,064 JBrowse link
G LOC130056714 ATAC-STARR-seq lymphoblastoid active region 9156 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome
ClinVar PMID:31690835 NCBI chr15:22,838,563...22,838,792 JBrowse link
G LOC130056715 ATAC-STARR-seq lymphoblastoid active region 9157 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome
ClinVar PMID:31690835 NCBI chr15:22,844,662...22,844,771 JBrowse link
G LOC130056716 ATAC-STARR-seq lymphoblastoid active region 9158 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome
ClinVar PMID:31690835 NCBI chr15:22,845,326...22,845,435 JBrowse link
G LOC130056717 ATAC-STARR-seq lymphoblastoid active region 9159 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome
ClinVar PMID:31690835 NCBI chr15:22,895,472...22,895,561 JBrowse link
G LOC130056718 ATAC-STARR-seq lymphoblastoid active region 9160 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome
ClinVar PMID:31690835 NCBI chr15:22,895,752...22,895,861 JBrowse link
G LOC130056719 ATAC-STARR-seq lymphoblastoid silent region 6262 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome
ClinVar PMID:31690835 NCBI chr15:23,303,697...23,303,916 JBrowse link
G LOC130056720 ATAC-STARR-seq lymphoblastoid active region 9163 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,790,297...25,790,396 JBrowse link
G LOC130056721 ATAC-STARR-seq lymphoblastoid active region 9164 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,850,284...25,850,333 JBrowse link
G LOC130056722 ATAC-STARR-seq lymphoblastoid active region 9165 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,850,384...25,850,443 JBrowse link
G LOC130056723 ATAC-STARR-seq lymphoblastoid silent region 6265 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,850,724...25,850,773 JBrowse link
G LOC130056724 ATAC-STARR-seq lymphoblastoid silent region 6266 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:26,082,543...26,082,612 JBrowse link
G LOC130056725 ATAC-STARR-seq lymphoblastoid active region 9166 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:29,308,295...29,308,374 JBrowse link
G LOC130056727 ATAC-STARR-seq lymphoblastoid silent region 6268 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr15:31,870,636...31,870,705 JBrowse link
G LOC130059967 ATAC-STARR-seq lymphoblastoid active region 11497 IAGP ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr17:2,708,866...2,709,065 JBrowse link
G LOC130059968 ATAC-STARR-seq lymphoblastoid active region 11498 IAGP ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr17:2,710,323...2,710,402 JBrowse link
G LOC130059969 ATAC-STARR-seq lymphoblastoid silent region 8011 IAGP ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr17:2,749,842...2,750,031 JBrowse link
G LOC132090298 Neanderthal introgressed variant-containing enhancer experimental_39258 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:27,916,571...27,916,740 JBrowse link
G LOC132090299 Neanderthal introgressed variant-containing enhancer experimental_39278 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:27,930,825...27,930,994 JBrowse link
G MAGEL2 MAGE family member L2 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
JBrowse link
G MIR1253 microRNA 1253 IAGP ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr17:2,748,078...2,748,182
Ensembl chr17:2,748,078...2,748,182
JBrowse link
G MIR4508 microRNA 4508 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:23,562,062...23,562,131
Ensembl chr15:23,562,062...23,562,131
JBrowse link
G MIR4509-1 microRNA 4509-1 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome
ClinVar PMID:31690835 NCBI chr15:23,197,827...23,197,920
Ensembl chr15:23,197,827...23,197,920
JBrowse link
G MIR4509-2 microRNA 4509-2 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:28,426,491...28,426,584
Ensembl chr15:28,426,491...28,426,584
JBrowse link
G MIR4509-3 microRNA 4509-3 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:28,490,752...28,490,845
Ensembl chr15:28,490,752...28,490,845
JBrowse link
G MIR4715 microRNA 4715 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,848,747...25,848,825
Ensembl chr15:25,848,747...25,848,825
JBrowse link
G MIR6776 microRNA 6776 IAGP ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr17:2,692,861...2,692,919
Ensembl chr17:2,692,861...2,692,919
JBrowse link
G MKRN3 makorin ring finger protein 3 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:23,565,674...23,568,044
Ensembl chr15:23,565,674...23,630,075
JBrowse link
G NDN necdin, MAGE family member IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305
JBrowse link
G NIPA1 NIPA magnesium transporter 1 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome
ClinVar PMID:31690835 NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789
JBrowse link
G NIPA2 NIPA magnesium transporter 2 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome
ClinVar PMID:31690835 NCBI chr15:22,838,666...22,868,384
Ensembl chr15:22,838,644...22,869,362
JBrowse link
G NPAP1 nuclear pore associated protein 1 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:24,675,775...24,683,393
Ensembl chr15:24,675,775...24,683,393
JBrowse link
G NSMCE3 NSE3 homolog, SMC5-SMC6 complex component IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:29,264,989...29,269,822
Ensembl chr15:29,264,989...29,269,822
JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
JBrowse link
G OTUD7A OTU deubiquitinase 7A IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr15:31,475,398...31,870,673
Ensembl chr15:31,475,398...31,870,789
JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 IAGP ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,183...2,685,615
JBrowse link
G PWAR1 Prader Willi/Angelman region RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:25,135,642...25,138,053
Ensembl chr15:25,135,642...25,138,055
JBrowse link
G PWAR4 Prader Willi/Angelman region RNA 4 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:25,211,692...25,212,033 JBrowse link
G PWAR5 Prader Willi/Angelman region RNA 5 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:24,984,860...24,988,232
Ensembl chr15:24,985,053...24,988,232
JBrowse link
G PWAR6 Prader Willi/Angelman region RNA 6 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:25,031,873...25,036,490 JBrowse link
G PWARSN Prader Willi/Angelman region RNA, SNRPN neighbor IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:24,981,994...24,983,790 JBrowse link
G PWRN1 Prader-Willi region non-protein coding RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:24,558,157...24,587,780
Ensembl chr15:24,101,827...24,823,365
JBrowse link
G PWRN2 Prader-Willi region non-protein coding RNA 2 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:24,164,777...24,169,948
Ensembl chr15:24,162,754...24,169,948
JBrowse link
G PWRN3 Prader-Willi region non-protein coding RNA 3 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:24,441,127...24,447,967
Ensembl chr15:24,101,827...24,823,365
JBrowse link
G PWRN4 Prader-Willi region non-protein coding RNA 4 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:23,975,147...24,088,154
Ensembl chr15:23,912,411...24,090,821
JBrowse link
G RAP1GAP2 RAP1 GTPase activating protein 2 IAGP ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr17:2,755,645...3,037,741
Ensembl chr17:2,755,705...3,037,741
JBrowse link
G SNHG14 small nucleolar RNA host gene 14 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:24,823,608...25,419,462
Ensembl chr15:24,978,583...25,420,336
JBrowse link
G SNORD107 small nucleolar RNA, C/D box 107 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:24,981,994...24,982,068
Ensembl chr15:24,981,994...24,982,068
JBrowse link
G SNORD108 small nucleolar RNA, C/D box 108 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:24,986,925...24,986,993
Ensembl chr15:24,986,925...24,986,995
JBrowse link
G SNORD109A small nucleolar RNA, C/D box 109A IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,041,974...25,042,040
Ensembl chr15:25,041,974...25,042,040
JBrowse link
G SNORD109B small nucleolar RNA, C/D box 109B IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,278,343...25,278,409
Ensembl chr15:25,278,343...25,278,409
JBrowse link
G SNORD115-1 small nucleolar RNA, C/D box 115-1 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:25,170,723...25,170,804
Ensembl chr15:25,170,723...25,170,804
JBrowse link
G SNORD115-10 small nucleolar RNA, C/D box 115-10 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,187,536...25,187,616
Ensembl chr15:25,187,536...25,187,616
JBrowse link
G SNORD115-11 small nucleolar RNA, C/D box 115-11 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,189,414...25,189,495
Ensembl chr15:25,189,414...25,189,495
JBrowse link
G SNORD115-12 small nucleolar RNA, C/D box 115-12 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,191,416...25,191,497
Ensembl chr15:25,191,416...25,191,497
JBrowse link
G SNORD115-13 small nucleolar RNA, C/D box 115-13 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,193,321...25,193,402
Ensembl chr15:25,193,321...25,193,402
JBrowse link
G SNORD115-14 small nucleolar RNA, C/D box 115-14 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,194,921...25,195,001
Ensembl chr15:25,194,921...25,195,001
JBrowse link
G SNORD115-15 small nucleolar RNA, C/D box 115-15 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,197,576...25,197,656
Ensembl chr15:25,197,576...25,197,656
JBrowse link
G SNORD115-16 small nucleolar RNA, C/D box 115-16 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,199,448...25,199,529
Ensembl chr15:25,199,448...25,199,529
JBrowse link
G SNORD115-17 small nucleolar RNA, C/D box 115-17 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,201,323...25,201,404
Ensembl chr15:25,201,323...25,201,404
JBrowse link
G SNORD115-18 small nucleolar RNA, C/D box 115-18 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,203,227...25,203,308
Ensembl chr15:25,203,227...25,203,308
JBrowse link
G SNORD115-19 small nucleolar RNA, C/D box 115-19 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,204,357...25,204,438
Ensembl chr15:25,204,357...25,204,438
JBrowse link
G SNORD115-2 small nucleolar RNA, C/D box 115-2 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,172,635...25,172,716
Ensembl chr15:25,172,635...25,172,716
JBrowse link
G SNORD115-20 small nucleolar RNA, C/D box 115-20 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,206,262...25,206,343
Ensembl chr15:25,206,262...25,206,343
JBrowse link
G SNORD115-21 small nucleolar RNA, C/D box 115-21 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,208,083...25,208,163
Ensembl chr15:25,208,083...25,208,163
JBrowse link
G SNORD115-22 small nucleolar RNA, C/D box 115-22 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,209,918...25,209,999
Ensembl chr15:25,209,918...25,209,999
JBrowse link
G SNORD115-23 small nucleolar RNA, C/D box 115-23 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,211,796...25,211,877
Ensembl chr15:25,211,796...25,211,877
JBrowse link
G SNORD115-24 small nucleolar RNA, C/D box 115-24 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,213,659...25,213,729
Ensembl chr15:25,213,648...25,213,729
JBrowse link
G SNORD115-25 small nucleolar RNA, C/D box 115-25 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,215,541...25,215,622
Ensembl chr15:25,215,541...25,215,622
JBrowse link
G SNORD115-26 small nucleolar RNA, C/D box 115-26 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,218,617...25,218,698
Ensembl chr15:25,218,617...25,218,698
JBrowse link
G SNORD115-27 small nucleolar RNA, C/D box 115-27 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,220,503...25,220,578
Ensembl chr15:25,220,497...25,220,578
JBrowse link
G SNORD115-28 small nucleolar RNA, C/D box 115-28 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,222,354...25,222,427
Ensembl chr15:25,222,348...25,222,428
JBrowse link
G SNORD115-29 small nucleolar RNA, C/D box 115-29 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,223,246...25,223,327
Ensembl chr15:25,223,246...25,223,327
JBrowse link
G SNORD115-3 small nucleolar RNA, C/D box 115-3 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,174,927...25,175,008
Ensembl chr15:25,174,927...25,175,008
JBrowse link
G SNORD115-30 small nucleolar RNA, C/D box 115-30 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,225,203...25,225,284
Ensembl chr15:25,225,203...25,225,284
JBrowse link
G SNORD115-31 small nucleolar RNA, C/D box 115-31 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,227,109...25,227,190
Ensembl chr15:25,227,109...25,227,190
JBrowse link
G SNORD115-32 small nucleolar RNA, C/D box 115-32 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,228,967...25,229,048
Ensembl chr15:25,228,967...25,229,048
JBrowse link
G SNORD115-33 small nucleolar RNA, C/D box 115-33 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,230,838...25,230,919
Ensembl chr15:25,230,838...25,230,919
JBrowse link
G SNORD115-34 small nucleolar RNA, C/D box 115-34 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,232,387...25,232,468
Ensembl chr15:25,232,387...25,232,468
JBrowse link
G SNORD115-35 small nucleolar RNA, C/D box 115-35 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,234,247...25,234,328
Ensembl chr15:25,234,247...25,234,328
JBrowse link
G SNORD115-36 small nucleolar RNA, C/D box 115-36 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,236,085...25,236,166
Ensembl chr15:25,236,085...25,236,166
JBrowse link
G SNORD115-37 small nucleolar RNA, C/D box 115-37 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,237,986...25,238,067
Ensembl chr15:25,237,986...25,238,067
JBrowse link
G SNORD115-38 small nucleolar RNA, C/D box 115-38 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,239,838...25,239,919
Ensembl chr15:25,239,838...25,239,919
JBrowse link
G SNORD115-39 small nucleolar RNA, C/D box 115-39 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,241,746...25,241,827
Ensembl chr15:25,241,746...25,241,827
JBrowse link
G SNORD115-4 small nucleolar RNA, C/D box 115-4 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,176,832...25,176,913
Ensembl chr15:25,176,832...25,176,913
JBrowse link
G SNORD115-40 small nucleolar RNA, C/D box 115-40 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,243,614...25,243,695
Ensembl chr15:25,243,614...25,243,695
JBrowse link
G SNORD115-41 small nucleolar RNA, C/D box 115-41 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,245,478...25,245,559
Ensembl chr15:25,245,478...25,245,559
JBrowse link
G SNORD115-42 small nucleolar RNA, C/D box 115-42 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,247,345...25,247,426
Ensembl chr15:25,247,345...25,247,426
JBrowse link
G SNORD115-43 small nucleolar RNA, C/D box 115-43 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,249,198...25,249,279
Ensembl chr15:25,249,198...25,249,279
JBrowse link
G SNORD115-44 small nucleolar RNA, C/D box 115-44 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,250,859...25,250,940
Ensembl chr15:25,250,859...25,250,940
JBrowse link
G SNORD115-45 small nucleolar RNA, C/D box 115-45 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,264,527...25,264,579
Ensembl chr15:25,264,510...25,264,590
JBrowse link
G SNORD115-46 small nucleolar RNA, C/D box 115-46 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,266,591...25,266,661
Ensembl chr15:25,266,591...25,266,661
JBrowse link
G SNORD115-47 small nucleolar RNA, C/D box 115-47 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,268,517...25,268,549
Ensembl chr15:25,268,466...25,268,551
JBrowse link
G SNORD115-48 small nucleolar RNA, C/D box 115-48 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,269,783...25,269,858
Ensembl chr15:25,269,783...25,269,858
JBrowse link
G SNORD115-5 small nucleolar RNA, C/D box 115-5 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,178,738...25,178,819
Ensembl chr15:25,178,738...25,178,819
JBrowse link
G SNORD115-6 small nucleolar RNA, C/D box 115-6 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,180,497...25,180,578
Ensembl chr15:25,180,497...25,180,578
JBrowse link
G SNORD115-7 small nucleolar RNA, C/D box 115-7 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,182,385...25,182,466
Ensembl chr15:25,182,385...25,182,466
JBrowse link
G SNORD115-8 small nucleolar RNA, C/D box 115-8 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,184,306...25,184,387
Ensembl chr15:25,184,306...25,184,387
JBrowse link
G SNORD115-9 small nucleolar RNA, C/D box 115-9 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,185,631...25,185,712
Ensembl chr15:25,185,631...25,185,712
JBrowse link
G SNORD116-1 small nucleolar RNA, C/D box 116-1 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:25,051,476...25,051,572
Ensembl chr15:25,051,477...25,051,571
JBrowse link
G SNORD116-10 small nucleolar RNA, C/D box 116-10 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,074,113...25,074,216
Ensembl chr15:25,074,114...25,074,215
JBrowse link
G SNORD116-11 small nucleolar RNA, C/D box 116-11 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,075,928...25,076,021
Ensembl chr15:25,075,929...25,076,020
JBrowse link
G SNORD116-12 small nucleolar RNA, C/D box 116-12 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,077,050...25,077,143
Ensembl chr15:25,077,051...25,077,142
JBrowse link
G SNORD116-13 small nucleolar RNA, C/D box 116-13 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,079,057...25,079,150
Ensembl chr15:25,079,058...25,079,149
JBrowse link
G SNORD116-14 small nucleolar RNA, C/D box 116-14 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,080,141...25,080,234
Ensembl chr15:25,080,142...25,080,233
JBrowse link
G SNORD116-15 small nucleolar RNA, C/D box 116-15 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,081,286...25,081,379
Ensembl chr15:25,081,287...25,081,378
JBrowse link
G SNORD116-16 small nucleolar RNA, C/D box 116-16 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,082,767...25,082,860
Ensembl chr15:25,082,768...25,082,859
JBrowse link
G SNORD116-17 small nucleolar RNA, C/D box 116-17 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,083,587...25,083,680
Ensembl chr15:25,083,588...25,083,679
JBrowse link
G SNORD116-18 small nucleolar RNA, C/D box 116-18 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,085,384...25,085,477
Ensembl chr15:25,085,385...25,085,476
JBrowse link
G SNORD116-19 small nucleolar RNA, C/D box 116-19 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,086,526...25,086,619
Ensembl chr15:25,086,527...25,086,618
JBrowse link
G SNORD116-2 small nucleolar RNA, C/D box 116-2 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,054,209...25,054,305
Ensembl chr15:25,054,210...25,054,304
JBrowse link
G SNORD116-20 small nucleolar RNA, C/D box 116-20 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,087,661...25,087,754
Ensembl chr15:25,087,662...25,087,753
JBrowse link
G SNORD116-21 small nucleolar RNA, C/D box 116-21 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,088,803...25,088,896
Ensembl chr15:25,088,804...25,088,895
JBrowse link
G SNORD116-22 small nucleolar RNA, C/D box 116-22 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,089,922...25,090,015
Ensembl chr15:25,089,923...25,090,014
JBrowse link
G SNORD116-23 small nucleolar RNA, C/D box 116-23 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,091,785...25,091,878
Ensembl chr15:25,091,786...25,091,877
JBrowse link
G SNORD116-24 small nucleolar RNA, C/D box 116-24 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,094,036...25,094,129
Ensembl chr15:25,094,037...25,094,128
JBrowse link
G SNORD116-25 small nucleolar RNA, C/D box 116-25 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,097,662...25,097,755
Ensembl chr15:25,097,663...25,097,754
JBrowse link
G SNORD116-26 small nucleolar RNA, C/D box 116-26 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,099,498...25,099,595
Ensembl chr15:25,099,499...25,099,594
JBrowse link
G SNORD116-27 small nucleolar RNA, C/D box 116-27 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,101,574...25,101,667
Ensembl chr15:25,101,575...25,101,666
JBrowse link
G SNORD116-28 small nucleolar RNA, C/D box 116-28 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,104,641...25,104,733
Ensembl chr15:25,104,642...25,104,732
JBrowse link
G SNORD116-29 small nucleolar RNA, C/D box 116-29 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,106,520...25,106,604
Ensembl chr15:25,106,521...25,106,603
JBrowse link
G SNORD116-3 small nucleolar RNA, C/D box 116-3 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,056,859...25,056,955
Ensembl chr15:25,056,860...25,056,954
JBrowse link
G SNORD116-30 small nucleolar RNA, C/D box 116-30 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,108,268...25,108,352
Ensembl chr15:25,108,268...25,108,352
JBrowse link
G SNORD116-4 small nucleolar RNA, C/D box 116-4 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,059,537...25,059,634
Ensembl chr15:25,059,538...25,059,633
JBrowse link
G SNORD116-5 small nucleolar RNA, C/D box 116-5 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,062,332...25,062,428
Ensembl chr15:25,062,333...25,062,427
JBrowse link
G SNORD116-6 small nucleolar RNA, C/D box 116-6 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,065,025...25,065,122
Ensembl chr15:25,065,026...25,065,121
JBrowse link
G SNORD116-7 small nucleolar RNA, C/D box 116-7 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,067,787...25,067,883
Ensembl chr15:25,067,788...25,067,882
JBrowse link
G SNORD116-8 small nucleolar RNA, C/D box 116-8 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,070,431...25,070,527
Ensembl chr15:25,070,432...25,070,526
JBrowse link
G SNORD116-9 small nucleolar RNA, C/D box 116-9 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:25,073,106...25,073,202
Ensembl chr15:25,073,107...25,073,201
JBrowse link
G SNORD64 small nucleolar RNA, C/D box 64 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:24,985,100...24,985,166
Ensembl chr15:24,985,100...24,985,166
JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
JBrowse link
G SNURF SNRPN upstream open reading frame IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:24,954,987...24,978,723
Ensembl chr15:24,954,987...24,977,850
JBrowse link
G TJP1 tight junction protein 1 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:29,699,367...29,969,049
Ensembl chr15:29,699,367...29,968,915
JBrowse link
G TRE-TTC2-2 tRNA-Glu (anticodon TTC) 2-2 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:26,082,234...26,082,305 JBrowse link
G TUBGCP5 tubulin gamma complex component 5 IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome
ClinVar PMID:31690835 NCBI chr15:22,983,025...23,039,569
Ensembl chr15:22,983,192...23,039,572
JBrowse link
G UBE3A ubiquitin protein ligase E3A IAGP ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:25,333,728...25,439,056
Ensembl chr15:25,333,728...25,439,051
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35757
    syndrome 18161
      chromosomal deletion syndrome 4771
        chromosome 15q11.2 deletion syndrome 212
Path 2
Term Annotations click to browse term
  disease 35757
    disease of anatomical entity 32521
      nervous system disease 26418
        central nervous system disease 23627
          brain disease 22066
            disease of mental health 17247
              developmental disorder of mental health 12032
                specific developmental disorder 7427
                  intellectual disability 7183
                    chromosome 15q11.2 deletion syndrome 212
paths to the root