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 Deletion |
|
Accession: | DOID:9008165
|
browse the term
|
Definition: | Actual loss of portion of a chromosome. |
Synonyms: | exact_synonym: | Partial Monosomies; Partial Monosomy; chromosome deletions |
| primary_id: | MESH:D002872 |
For additional species annotation, visit the
Alliance of Genome Resources.
|
|
|
|
G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21526190 |
|
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
|
|
G |
Rad51d |
RAD51 paralog D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27924006 |
|
NCBI chr10:70,222,703...70,241,352
Ensembl chr10:70,227,163...70,241,254
|
|
G |
Shank3 |
SH3 and multiple ankyrin repeat domains 3 |
|
ISO |
|
RGD |
PMID:12920066 |
RGD:1599213 |
NCBI chr 7:130,474,278...130,534,679
Ensembl chr 7:130,474,279...130,534,679
|
|
|
G |
Aldoa |
aldolase, fructose-bisphosphate A |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
|
|
G |
Aldoart2 |
aldolase 1 A retrogene 2 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 6:76,349,362...76,351,052
Ensembl chr 6:76,349,362...76,351,051
|
|
G |
Asphd1 |
aspartate beta-hydroxylase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,379,060...198,382,982
Ensembl chr 1:198,379,022...198,382,614
|
|
G |
Atp2a1 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:32238909 |
|
NCBI chr 1:197,855,912...197,875,038
|
|
G |
Atxn2l |
ataxin 2-like |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:32238909 |
|
NCBI chr 1:197,908,087...197,920,400
Ensembl chr 1:197,908,094...197,919,560
|
|
G |
Bola2 |
bolA family member 2 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,120,104...198,121,158
Ensembl chr 1:198,120,099...198,121,158
|
|
G |
Cd19 |
CD19 molecule |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:32238909 |
|
NCBI chr 1:197,815,422...197,822,123
Ensembl chr 1:197,815,413...197,821,936
|
|
G |
Cdipt |
CDP-diacylglycerol--inositol 3-phosphatidyltransferase |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,409,186...198,413,497
Ensembl chr 1:198,409,360...198,413,497
|
|
G |
Coro1a |
coronin 1A |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,123,883...198,128,890
Ensembl chr 1:198,123,884...198,128,857
|
|
G |
Doc2a |
double C2 domain alpha |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,282,828...198,288,611
Ensembl chr 1:198,284,473...198,288,113
|
|
G |
Gdpd3 |
glycerophosphodiester phosphodiesterase domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,199,032...198,209,178
Ensembl chr 1:198,199,622...198,209,150
|
|
G |
Hirip3 |
HIRA interacting protein 3 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,298,138...198,301,164
Ensembl chr 1:198,298,138...198,301,161
|
|
G |
Ino80e |
INO80 complex subunit E |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,287,489...198,298,076
Ensembl chr 1:198,287,490...198,298,076
|
|
G |
Kctd13 |
potassium channel tetramerization domain containing 13 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,360,627...198,378,935
Ensembl chr 1:198,360,627...198,378,934
|
|
G |
Kif22 |
kinesin family member 22 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,461,406...198,476,430
Ensembl chr 1:198,461,169...198,476,476
|
|
G |
Lat |
linker for activation of T cells |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:32238909 |
|
NCBI chr 1:197,765,644...197,770,669
Ensembl chr 1:197,765,644...197,770,669
|
|
G |
LOC308990 |
hypothetical protein LOC308990 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,528,569...198,531,585
Ensembl chr 1:198,528,635...198,531,201
|
|
G |
Mapk3 |
mitogen activated protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
|
|
G |
Maz |
MYC associated zinc finger protein |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,456,699...198,460,126
Ensembl chr 1:198,456,699...198,460,126
|
|
G |
Mvp |
major vault protein |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,420,813...198,448,612
Ensembl chr 1:198,420,806...198,450,047
|
|
G |
Nfatc2ip |
nuclear factor of activated T-cells 2 interacting protein |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:32238909 |
|
NCBI chr 1:197,785,966...197,800,943
Ensembl chr 1:197,785,968...197,801,634
|
|
G |
Pagr1 |
Paxip1-associated glutamate-rich protein 1 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,448,790...198,451,078
Ensembl chr 1:198,449,040...198,450,688
|
|
G |
Ppp4c |
protein phosphatase 4, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,219,012...198,225,775
Ensembl chr 1:198,219,054...198,225,580
|
|
G |
Prrt2 |
proline-rich transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
|
|
G |
Qprt |
quinolinate phosphoribosyltransferase |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,544,262...198,559,556
Ensembl chr 1:198,544,262...198,559,568
|
|
G |
Rabep2 |
rabaptin, RAB GTPase binding effector protein 2 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:32238909 |
|
NCBI chr 1:197,839,583...197,855,953
Ensembl chr 1:197,839,430...197,856,312
|
|
G |
RGD1563217 |
similar to RIKEN cDNA 4930451I11 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,260,711...198,268,056
Ensembl chr 1:198,266,108...198,267,093
|
|
G |
Sez6l2 |
seizure related 6 homolog like 2 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,383,201...198,403,544
Ensembl chr 1:198,383,201...198,403,544
|
|
G |
Sh2b1 |
SH2B adaptor protein 1 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:32238909 |
|
NCBI chr 1:197,878,839...197,888,223
Ensembl chr 1:197,878,840...197,886,759
|
|
G |
Slx1b |
SLX1 homolog B, structure-specific endonuclease subunit |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,114,514...198,120,061
Ensembl chr 1:198,112,245...198,120,061
|
|
G |
Spn |
sialophorin |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,572,999...198,585,664
Ensembl chr 1:198,572,999...198,577,226
|
|
G |
Spns1 |
sphingolipid transporter 1 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:32238909 |
|
NCBI chr 1:197,771,196...197,778,506
Ensembl chr 1:197,771,108...197,778,490
|
|
G |
Taok2 |
TAO kinase 2 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,301,789...198,354,601
Ensembl chr 1:198,301,938...198,320,075
|
|
G |
Tbx6 |
T-box transcription factor 6 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,214,797...198,218,706
Ensembl chr 1:198,214,797...198,218,706
|
|
G |
Tlcd3b |
TLC domain containing 3B |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,252,208...198,265,840
Ensembl chr 1:198,259,496...198,265,839
|
|
G |
Tmem219 |
transmembrane protein 219 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,322,276...198,360,552
Ensembl chr 1:198,324,857...198,354,466
|
|
G |
Tufm |
Tu translation elongation factor, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:32238909 |
|
NCBI chr 1:197,903,582...197,907,189
Ensembl chr 1:197,903,582...197,907,189
|
|
G |
Ypel3 |
yippee-like 3 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,210,525...198,213,821
Ensembl chr 1:198,210,525...198,213,816
|
|
G |
Zg16 |
zymogen granule protein 16 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 1:198,483,800...198,486,157
Ensembl chr 1:198,483,805...198,486,157
|
|
|
G |
Acsf3 |
acyl-CoA synthetase family member 3 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:55,594,801...55,635,312
Ensembl chr19:55,594,831...55,635,122
|
|
G |
Ankrd11 |
ankyrin repeat domain 11 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:55,703,831...55,862,446
Ensembl chr19:55,703,824...55,737,500
|
|
G |
Aprt |
adenine phosphoribosyl transferase |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:55,387,288...55,389,256
Ensembl chr19:55,387,288...55,389,256
|
|
G |
Banp |
Btg3 associated nuclear protein |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:54,766,441...54,843,795
Ensembl chr19:54,766,589...54,840,569
|
|
G |
Ca5a |
carbonic anhydrase 5A |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:54,731,829...54,761,697
Ensembl chr19:54,731,859...54,761,670
|
|
G |
Cbfa2t3 |
CBFA2/RUNX1 partner transcriptional co-repressor 3 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:55,438,409...55,510,652
Ensembl chr19:55,441,572...55,510,460
|
|
G |
Cdh15 |
cadherin 15 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:55,669,661...55,689,986
Ensembl chr19:55,669,626...55,689,992
|
|
G |
Cdt1 |
chromatin licensing and DNA replication factor 1 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:55,381,565...55,386,511
Ensembl chr19:55,381,565...55,386,511
|
|
G |
Cpne7 |
copine 7 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:55,929,555...55,946,251
Ensembl chr19:55,929,609...55,946,250
|
|
G |
Ctu2 |
cytosolic thiouridylase subunit 2 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:55,300,531...55,305,543
Ensembl chr19:55,300,395...55,305,702
|
|
G |
Cyba |
cytochrome b-245 alpha chain |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
|
|
G |
Fbxo31 |
F-box protein 31 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:53,487,610...53,625,673
Ensembl chr19:53,487,613...53,625,673
|
|
G |
Galns |
galactosamine (N-acetyl)-6-sulfatase |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:55,391,004...55,423,328
Ensembl chr19:55,389,462...55,423,150
|
|
G |
Il17c |
interleukin 17C |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:55,246,926...55,248,688
Ensembl chr19:55,246,926...55,248,205
|
|
G |
Jph3 |
junctophilin 3 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:54,553,419...54,613,477
Ensembl chr19:54,553,419...54,613,477
|
|
G |
Klhdc4 |
kelch domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:54,651,911...54,652,381
Ensembl chr19:54,651,911...54,652,381
|
|
G |
LOC687560 |
hypothetical protein LOC687560 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:53,467,806...53,481,093
Ensembl chr19:53,468,054...53,477,420
|
|
G |
Map1lc3b |
microtubule-associated protein 1 light chain 3 beta |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:53,635,449...53,643,970
Ensembl chr19:53,629,779...53,646,058
|
|
G |
Mvd |
mevalonate diphosphate decarboxylase |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:55,258,910...55,268,933
Ensembl chr19:55,258,905...55,268,951
|
|
G |
Pabpn1l |
poly(A)binding protein nuclear 1-like |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:55,430,808...55,434,252
Ensembl chr19:55,430,810...55,434,252
|
|
G |
Piezo1 |
piezo-type mechanosensitive ion channel component 1 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
|
|
G |
Rnf166 |
ring finger protein 166 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:55,290,563...55,300,403
Ensembl chr19:55,290,563...55,300,403
|
|
G |
Rpl13 |
ribosomal protein L13 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:55,917,489...55,920,040
Ensembl chr19:55,917,736...55,919,996
|
|
G |
Slc7a5 |
solute carrier family 7 member 5 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:54,693,959...54,722,563
Ensembl chr19:54,693,959...54,722,563
|
|
G |
Snai3 |
snail family transcriptional repressor 3 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:55,276,211...55,290,031
Ensembl chr19:55,277,549...55,284,663
|
|
G |
Trappc2l |
trafficking protein particle complex subunit 2L |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:55,423,350...55,428,551
Ensembl chr19:55,423,350...55,427,036
|
|
G |
Zc3h18 |
zinc finger CCCH-type containing 18 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:55,197,348...55,241,800
Ensembl chr19:55,197,704...55,241,851
|
|
G |
Zcchc14 |
zinc finger CCHC-type containing 14 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:53,644,500...53,688,624
Ensembl chr19:53,647,815...53,688,597
|
|
G |
Zfp26 |
zinc finger protein 26 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr 8:21,444,833...21,466,474
Ensembl chr 8:21,448,618...21,458,379
|
|
G |
Zfp469 |
zinc finger protein 469 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:54,843,864...55,083,935
|
|
G |
Zfpm1 |
zinc finger protein, multitype 1 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:55,094,585...55,150,994
Ensembl chr19:55,094,585...55,150,686
|
|
|
G |
Abl2 |
ABL proto-oncogene 2, non-receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:74,154,533...74,333,244
Ensembl chr13:74,154,835...74,333,244
|
|
G |
Acbd6 |
acyl-CoA binding domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:73,196,504...73,334,077
Ensembl chr13:73,196,571...73,334,077
|
|
G |
Angptl1 |
angiopoietin-like 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:74,456,487...74,463,031
Ensembl chr13:74,410,010...74,474,681
|
|
G |
Ankrd45 |
ankyrin repeat domain 45 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:78,973,578...79,000,356
Ensembl chr13:78,979,321...78,991,997
|
|
G |
Astn1 |
astrotactin 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:76,054,965...76,370,674
Ensembl chr13:76,055,410...76,370,674
|
|
G |
Atp1b1 |
ATPase Na+/K+ transporting subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:82,737,161...82,757,681
Ensembl chr13:82,737,159...82,758,004
|
|
G |
Axdnd1 |
axonemal dynein light chain domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:73,950,422...74,025,237
|
|
G |
Blzf1 |
basic leucine zipper nuclear factor 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:82,592,170...82,607,379
Ensembl chr13:82,592,170...82,607,379
|
|
G |
Brinp2 |
BMP/retinoic acid inducible neural specific 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:75,948,679...76,049,363
Ensembl chr13:75,948,679...76,049,363
|
|
G |
Cacna1e |
calcium voltage-gated channel subunit alpha1 E |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:71,899,445...72,534,992
Ensembl chr13:71,906,702...72,367,980
|
|
G |
Cacybp |
calcyclin binding protein |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:77,948,771...77,959,089
Ensembl chr13:77,948,771...77,959,110
|
|
G |
Ccdc181 |
coiled-coil domain containing 181 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:82,574,980...82,588,637
Ensembl chr13:82,574,966...82,588,640
|
|
G |
Cenpl |
centromere protein L |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:78,886,092...78,901,025
Ensembl chr13:78,886,163...78,901,420
|
|
G |
Cep350 |
centrosomal protein 350 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:73,499,715...73,637,707
Ensembl chr13:73,499,229...73,638,073
|
|
G |
Cop1 |
COP1, E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:76,942,883...77,076,015
Ensembl chr13:76,942,928...77,075,723
|
|
G |
Dars2 |
aspartyl-tRNA synthetase 2 (mitochondrial) |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
|
|
G |
Dhx9 |
DExH-box helicase 9 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:70,885,503...70,922,278
Ensembl chr13:70,885,504...70,922,245
|
|
G |
Dnm3 |
dynamin 3 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:79,906,711...80,379,967
Ensembl chr13:79,910,382...80,379,929
|
|
G |
Eef1aknmt |
eEF1A lysine and N-terminal methyltransferase |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:80,427,595...80,441,353
Ensembl chr13:80,420,025...80,441,374
|
|
G |
F5 |
coagulation factor V |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
|
|
G |
Fam163a |
family with sequence similarity 163, member A |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:73,741,674...73,820,114
Ensembl chr13:73,741,679...73,819,896
|
|
G |
Fam20b |
FAM20B, glycosaminoglycan xylosylkinase |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:74,280,173...74,333,463
Ensembl chr13:74,280,173...74,331,214
|
|
G |
Faslg |
Fas ligand |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
|
|
G |
Fmo1 |
flavin containing dimethylaniline monoxygenase 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:80,712,885...80,745,095
Ensembl chr13:80,712,882...80,745,347
|
|
G |
Fmo2 |
flavin containing dimethylaniline monoxygenase 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:80,752,526...80,775,264
Ensembl chr13:80,755,058...80,775,264
|
|
G |
Fmo3 |
flavin containing dimethylaniline monoxygenase 3 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:80,837,418...80,856,214
Ensembl chr13:80,837,420...80,862,963
|
|
G |
Fmo4 |
flavin containing dimethylaniline monoxygenase 4 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:80,685,385...80,703,575
Ensembl chr13:80,685,325...80,703,615
|
|
G |
Gas5 |
growth arrest specific 5 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:78,852,523...78,855,844
|
|
G |
Glul |
glutamate-ammonia ligase |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:71,331,052...71,340,207
Ensembl chr13:71,331,052...71,340,229
|
|
G |
Gorab |
golgin, RAB6-interacting |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:81,682,207...81,698,827
Ensembl chr13:81,682,018...81,698,833
|
|
G |
Gpr52 |
G protein-coupled receptor 52 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:78,326,545...78,331,349
Ensembl chr13:78,326,545...78,329,680
|
|
G |
Ier5 |
immediate early response 5 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:72,742,210...72,744,302
Ensembl chr13:72,742,210...72,744,303
|
|
G |
Kifap3 |
kinesin-associated protein 3 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:82,072,497...82,217,256
Ensembl chr13:82,072,497...82,217,252
|
|
G |
Klhl20 |
kelch-like family member 20 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:78,912,361...78,957,226
Ensembl chr13:78,912,361...78,957,212
|
|
G |
Lamc1 |
laminin subunit gamma 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:70,656,727...70,783,515
Ensembl chr13:70,658,707...70,783,515
|
|
G |
Lamc2 |
laminin subunit gamma 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:70,566,643...70,632,126
Ensembl chr13:70,566,643...70,626,252
|
|
G |
Lhx4 |
LIM homeobox 4 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:73,348,874...73,400,416
Ensembl chr13:73,348,842...73,400,416
|
|
G |
LOC100302372 |
hypothetical protein LOC100302372 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:77,784,516...77,822,333
Ensembl chr13:77,784,808...77,822,333
|
|
G |
LOC498265 |
similar to hypothetical protein FLJ10706 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:82,254,516...82,298,467
Ensembl chr13:82,254,453...82,298,404
|
|
G |
LOC684709 |
similar to putative membrane protein Re9 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:71,304,452...71,308,203
Ensembl chr13:71,305,548...71,306,456
|
|
G |
Mettl11b |
methyltransferase like 11B |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:81,987,877...82,027,781
Ensembl chr13:81,988,926...82,006,005
|
|
G |
Mettl18 |
methyltransferase like 18 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:82,298,534...82,300,763
Ensembl chr13:82,298,534...82,300,657
|
|
G |
Mir199a2 |
microRNA 199a-2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:80,125,487...80,125,596
Ensembl chr13:80,125,487...80,125,596
|
|
G |
Mir3120 |
microRNA 3120 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:80,130,909...80,131,025
Ensembl chr13:80,130,909...80,131,025
|
|
G |
Mr1 |
major histocompatibility complex, class I-related |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:72,771,992...72,789,861
Ensembl chr13:72,771,984...72,789,841
|
|
G |
Mroh9 |
maestro heat-like repeat family member 9 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:80,928,982...80,986,373
Ensembl chr13:80,928,995...80,968,971
|
|
G |
Mrps14 |
mitochondrial ribosomal protein S14 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:77,940,454...77,946,201
Ensembl chr13:77,940,454...77,946,201
|
|
G |
Myoc |
myocilin |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:80,517,531...80,527,928
Ensembl chr13:80,517,536...80,527,928
|
|
G |
Ncf2 |
neutrophil cytosolic factor 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:70,226,441...70,259,019
Ensembl chr13:70,226,647...70,257,576
|
|
G |
Nme7 |
NME/NM23 family member 7 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:82,607,844...82,737,383
Ensembl chr13:82,626,685...82,737,343
|
|
G |
Nmnat2 |
nicotinamide nucleotide adenylyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:70,379,346...70,559,311
Ensembl chr13:70,379,346...70,559,458
|
|
G |
Nphs2 |
NPHS2 stomatin family member, podocin |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522
|
|
G |
Npl |
N-acetylneuraminate pyruvate lyase |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:70,938,073...70,981,179
Ensembl chr13:70,938,082...70,980,913
|
|
G |
Pappa2 |
pappalysin 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:76,389,150...76,660,248
Ensembl chr13:76,389,150...76,660,245
|
|
G |
Pigc |
phosphatidylinositol glycan anchor biosynthesis, class C |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:79,886,832...79,889,305
Ensembl chr13:79,886,832...79,889,304
|
|
G |
Prdx6 |
peroxiredoxin 6 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:79,077,567...79,088,113
Ensembl chr13:79,077,033...79,088,127
|
|
G |
Prrc2c |
proline-rich coiled-coil 2C |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:80,544,789...80,614,925
|
|
G |
Prrx1 |
paired related homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:81,147,038...81,215,559
Ensembl chr13:81,147,348...81,214,546
|
|
G |
Qsox1 |
quiescin sulfhydryl oxidase 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:73,423,396...73,460,890
Ensembl chr13:73,423,397...73,460,935
|
|
G |
Rabgap1l |
RAB GTPase activating protein 1-like |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:77,975,392...78,609,009
Ensembl chr13:78,011,047...78,609,045
|
|
G |
Ralgps2 |
Ral GEF with PH domain and SH3 binding motif 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:74,446,001...74,520,640
Ensembl chr13:74,422,944...74,564,184
|
|
G |
Rasal2 |
RAS protein activator like 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:74,770,557...75,059,298
Ensembl chr13:74,771,522...75,059,326
|
|
G |
Rc3h1 |
ring finger and CCCH-type domains 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:78,723,028...78,794,663
Ensembl chr13:78,722,763...78,789,266
|
|
G |
RGD1304622 |
similar to 6820428L09 protein |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:72,860,313...72,900,020
Ensembl chr13:72,861,090...72,893,187
|
|
G |
RGD1309106 |
similar to hypothetical protein |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:79,856,479...79,901,830
Ensembl chr13:79,856,479...79,899,479
|
|
G |
Rgs16 |
regulator of G-protein signaling 16 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:71,163,411...71,185,147
Ensembl chr13:71,179,910...71,185,216
|
|
G |
Rgs8 |
regulator of G-protein signaling 8 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:71,086,654...71,141,820
Ensembl chr13:71,086,745...71,141,075
|
|
G |
Rgsl1 |
regulator of G-protein signaling like 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:71,206,268...71,276,799
Ensembl chr13:71,209,560...71,276,497
|
|
G |
Rnasel |
ribonuclease L |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:71,188,712...71,202,636
Ensembl chr13:71,192,142...71,202,625
|
|
G |
Scyl3 |
SCY1 like pseudokinase 3 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:82,230,938...82,255,640
Ensembl chr13:82,231,030...82,254,318
|
|
G |
Sec16b |
SEC16 homolog B, endoplasmic reticulum export factor |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:75,153,074...75,216,941
Ensembl chr13:75,175,254...75,216,941
|
|
G |
Sele |
selectin E |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:82,355,234...82,365,323
Ensembl chr13:82,355,471...82,365,341
|
|
G |
Sell |
selectin L |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:82,369,820...82,387,774
Ensembl chr13:82,369,493...82,387,631
|
|
G |
Selp |
selectin P |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
|
|
G |
Serpinc1 |
serpin family C member 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
|
|
G |
Shcbp1l |
SHC binding and spindle associated 1 like |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:70,852,044...70,882,336
Ensembl chr13:70,852,023...70,882,340
|
|
G |
Slc19a2 |
solute carrier family 19 member 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:82,552,586...82,566,586
Ensembl chr13:82,552,550...82,566,586
|
|
G |
Slc9c2 |
solute carrier family 9, member C2 (putative) |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:79,000,368...79,073,060
Ensembl chr13:79,000,037...79,079,429
|
|
G |
Smg7 |
SMG7 nonsense mediated mRNA decay factor |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:70,258,919...70,321,886
Ensembl chr13:70,258,915...70,321,752
|
|
G |
Soat1 |
sterol O-acyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:74,035,258...74,077,759
Ensembl chr13:74,035,080...74,077,783
|
|
G |
Stx6 |
syntaxin 6 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:72,804,218...72,850,757
Ensembl chr13:72,804,218...72,852,967
|
|
G |
Suco |
SUN domain containing ossification factor |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:79,736,485...79,801,133
Ensembl chr13:79,736,482...79,801,561
|
|
G |
Tdrd5 |
tudor domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:73,872,637...73,922,640
Ensembl chr13:73,872,621...73,921,969
|
|
G |
Tex35 |
testis expressed 35 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:74,729,455...74,740,685
Ensembl chr13:74,729,467...74,740,458
|
|
G |
Tnfsf18 |
TNF superfamily member 18 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:79,378,412...79,388,687
Ensembl chr13:79,378,733...79,388,498
|
|
G |
Tnfsf4 |
TNF superfamily member 4 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:79,269,973...79,293,775
Ensembl chr13:79,269,973...79,293,778
|
|
G |
Tnn |
tenascin N |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:77,829,384...77,896,831
Ensembl chr13:77,829,382...77,896,697
|
|
G |
Tnr |
tenascin R |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:77,602,249...77,678,385
Ensembl chr13:77,485,113...77,678,437
|
|
G |
Tor1aip1 |
torsin 1A interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:73,670,649...73,704,668
Ensembl chr13:73,670,141...73,704,678
|
|
G |
Tor1aip2 |
torsin 1A interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:73,704,088...73,735,339
Ensembl chr13:73,708,815...73,735,339 Ensembl chr13:73,708,815...73,735,339
|
|
G |
Tor3a |
torsin family 3, member A |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:74,246,504...74,277,694
Ensembl chr13:74,252,405...74,276,964
|
|
G |
Vamp4 |
vesicle-associated membrane protein 4 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:80,460,699...80,483,597
Ensembl chr13:80,460,694...80,483,600
|
|
G |
Xpr1 |
xenotropic and polytropic retrovirus receptor 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:72,918,552...73,056,785
Ensembl chr13:72,918,490...73,056,875
|
|
G |
Zbtb37 |
zinc finger and BTB domain containing 37 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:78,836,491...78,852,224
Ensembl chr13:78,836,587...78,852,182
|
|
G |
Zfp648 |
zinc finger protein 648 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:71,652,464...71,659,187
Ensembl chr13:71,656,651...71,658,255
|
|
|
G |
Fgf8 |
fibroblast growth factor 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12223415 |
|
NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
|
|
G |
Six1 |
SIX homeobox 1 |
|
ISO |
|
RGD |
PMID:21364285 |
RGD:11561941 |
NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
|
|
|
G |
Sox9 |
SRY-box transcription factor 9 |
|
ISO |
ClinVar Annotator: match by OMIM:616425 |
ClinVar OMIM |
PMID:567843 PMID:6620326 PMID:22051515 PMID:25604083 |
|
NCBI chr10:101,288,528...101,294,030
Ensembl chr10:101,288,489...101,293,379
|
|
|
G |
Dmrt1 |
doublesex and mab-3 related transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, WITH 9p24.3 DELETION |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:243,477,403...243,582,629
Ensembl chr 1:243,477,493...243,582,629
|
|
|
G |
Col4a6 |
collagen type IV alpha 6 chain |
|
ISO |
|
OMIM |
|
|
NCBI chr X:112,405,647...112,768,337
Ensembl chr X:112,405,647...112,473,822
|
|
|
G |
Zbtb18 |
zinc finger and BTB domain containing 18 |
|
ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 22 ClinVar Annotator: match by OMIM:612337 |
OMIM ClinVar |
PMID:24193349 PMID:25741868 PMID:26740508 PMID:27598823 PMID:28135719 PMID:28283832 PMID:29573576 |
|
NCBI chr13:95,582,234...95,593,316
Ensembl chr13:95,589,668...95,591,236
|
|
|
G |
Bmpr1a |
bone morphogenetic protein receptor type 1A |
|
ISS |
OMIM:612242 |
MouseDO |
|
|
NCBI chr16:10,758,278...10,852,170
Ensembl chr16:10,758,527...10,802,512
|
|
|
G |
Elp4 |
elongator acetyltransferase complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: 11p deletion syndrome |
ClinVar |
|
|
NCBI chr 3:95,733,810...95,954,987
|
|
G |
Pax6 |
paired box 6 |
|
ISO |
ClinVar Annotator: match by term: 11p deletion syndrome |
ClinVar |
PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
|
|
|
G |
Acod1 |
aconitate decarboxylase 1 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:93,612,968...93,622,322
Ensembl chr15:93,612,971...93,622,358
|
|
G |
Alg11 |
ALG11, alpha-1,2-mannosyltransferase |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr16:74,854,007...74,866,096
Ensembl chr16:74,857,562...74,864,816
|
|
G |
Arl11 |
ADP-ribosylation factor like GTPase 11 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:41,639,985...41,645,685
Ensembl chr15:41,643,541...41,645,685
|
|
G |
Atp7b |
ATPase copper transporting beta |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
|
|
G |
Bora |
bora, aurora kinase A activator |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:83,442,217...83,463,737
Ensembl chr15:83,442,144...83,463,717
|
|
G |
Cab39l |
calcium binding protein 39-like |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:39,745,124...39,849,022
Ensembl chr15:39,759,257...39,870,208
|
|
G |
Ccdc70 |
coiled-coil domain containing 70 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr16:74,958,897...74,963,925
Ensembl chr16:74,958,897...74,963,044
|
|
G |
Cdadc1 |
cytidine and dCMP deaminase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:39,865,094...39,894,122
Ensembl chr15:39,882,210...39,893,979
|
|
G |
Ckap2 |
cytoskeleton associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr16:74,752,655...74,779,184
Ensembl chr16:74,752,655...74,779,184
|
|
G |
Cln5 |
CLN5, intracellular trafficking protein |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:93,634,815...93,644,146
|
|
G |
Cnmd |
chondromodulin |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:61,923,291...61,947,840
Ensembl chr15:61,923,299...61,947,764
|
|
G |
Commd6 |
COMM domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:86,136,096...86,142,672
Ensembl chr15:86,136,096...86,142,672
|
|
G |
Cysltr2 |
cysteinyl leukotriene receptor 2 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:54,903,290...54,941,742
Ensembl chr15:54,905,274...54,906,203
|
|
G |
Dach1 |
dachshund family transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:82,095,003...82,482,272
Ensembl chr15:82,099,159...82,482,009
|
|
G |
Diaph3 |
diaphanous-related formin 3 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:69,928,507...70,400,077
Ensembl chr15:70,039,424...70,399,924
|
|
G |
Dis3 |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:83,466,330...83,494,107
Ensembl chr15:83,466,428...83,494,423
|
|
G |
Dleu7 |
deleted in lymphocytic leukemia, 7 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:45,360,505...45,378,840
Ensembl chr15:45,360,503...45,376,476
|
|
G |
Ebpl |
EBP like |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:41,668,119...41,691,518
Ensembl chr15:41,668,119...41,691,518
|
|
G |
Ednrb |
endothelin receptor type B |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
|
|
G |
Fam124a |
family with sequence similarity 124 member A |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:45,711,994...45,780,395
Ensembl chr15:45,712,821...45,780,405
|
|
G |
Fbxl3 |
F-box and leucine-rich repeat protein 3 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:93,647,307...93,667,395
Ensembl chr15:93,647,310...93,667,395
|
|
G |
Fndc3a |
fibronectin type III domain containing 3a |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:54,378,865...54,582,954
Ensembl chr15:54,381,044...54,528,480
|
|
G |
Ints6 |
integrator complex subunit 6 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:45,844,050...45,929,996
Ensembl chr15:45,858,608...45,947,030
|
|
G |
Itm2b |
integral membrane protein 2B |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
|
|
G |
Kcnrg |
potassium channel regulator |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:41,937,880...41,942,205
Ensembl chr15:41,937,880...41,942,205
|
|
G |
Kctd12 |
potassium channel tetramerization domain containing 12 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:87,384,632...87,390,627
|
|
G |
Klf12 |
Kruppel-like factor 12 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:84,316,986...84,748,549
Ensembl chr15:84,324,470...84,748,525
|
|
G |
Klf5 |
Kruppel-like factor 5 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:83,703,796...83,722,921
Ensembl chr15:83,703,791...83,722,921
|
|
G |
Klhl1 |
kelch-like family member 1 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:80,270,846...80,714,176
Ensembl chr15:80,271,731...80,713,153
|
|
G |
Kpna3 |
karyopherin subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:41,696,356...41,770,112
Ensembl chr15:41,698,281...41,770,112
|
|
G |
Lmo7 |
LIM domain 7 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:86,242,911...86,458,512
Ensembl chr15:86,243,148...86,457,739
|
|
G |
LOC102554746 |
uncharacterized LOC102554746 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:45,559,028...45,581,410
|
|
G |
Lpar6 |
lysophosphatidic acid receptor 6 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:55,126,953...55,128,762
Ensembl chr15:55,126,953...55,128,761
|
|
G |
Med4 |
mediator complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:55,406,543...55,416,816
Ensembl chr15:55,406,543...55,416,815
|
|
G |
Mycbp2 |
MYC binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:87,405,472...87,450,812 NCBI chr15:93,678,062...93,901,556
Ensembl chr15:87,506,959...93,868,301
|
|
G |
Mzt1 |
mitotic spindle organizing protein 1 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:83,429,437...83,442,118
Ensembl chr15:83,431,178...83,442,008
|
|
G |
Ndfip2 |
Nedd4 family interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:89,407,426...89,458,983
Ensembl chr15:89,407,426...89,458,983
|
|
G |
Nek3 |
NIMA-related kinase 3 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr16:74,781,371...74,806,567
Ensembl chr16:74,785,281...74,806,149
|
|
G |
Nek5 |
NIMA-related kinase 5 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr16:74,809,513...74,851,895
Ensembl chr16:74,810,938...74,848,113
|
|
G |
Nudt15 |
nudix hydrolase 15 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:55,417,774...55,456,698
Ensembl chr15:55,419,502...55,456,698
|
|
G |
Obi1 |
ORC ubiquitin ligase 1 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:88,632,089...88,670,325
Ensembl chr15:88,631,794...88,670,349
|
|
G |
Olfm4 |
olfactomedin 4 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:62,384,263...62,429,450
Ensembl chr15:62,406,873...62,429,449
|
|
G |
Pcdh17 |
protocadherin 17 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:67,555,835...67,647,990
Ensembl chr15:67,555,835...67,645,088
|
|
G |
Pcdh20 |
protocadherin 20 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:71,772,777...71,779,033
Ensembl chr15:71,772,777...71,779,033
|
|
G |
Pcdh8 |
protocadherin 8 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:62,196,469...62,201,498
Ensembl chr15:62,197,060...62,200,837
|
|
G |
Pcdh9 |
protocadherin 9 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:76,787,108...77,738,668
Ensembl chr15:77,733,402...77,736,892
|
|
G |
Phf11 |
PHD finger protein 11 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:38,692,817...39,683,417
Ensembl chr15:38,647,779...38,709,984
|
|
G |
Pibf1 |
progesterone immunomodulatory binding factor 1 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:83,494,110...83,663,202
Ensembl chr15:83,495,377...83,663,143
|
|
G |
Pou4f1 |
POU class 4 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:88,618,255...88,622,712
Ensembl chr15:88,620,470...88,622,413
|
|
G |
Prr20e |
proline rich 20E |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr 4:121,040,810...121,053,910
Ensembl chr 4:121,046,277...121,052,552
|
|
G |
Rb1 |
RB transcriptional corepressor 1 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
|
|
G |
Rbm26 |
RNA binding motif protein 26 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:89,262,683...89,339,323
Ensembl chr15:89,266,710...89,339,323
|
|
G |
Rcbtb1 |
RCC1 and BTB domain containing protein 1 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:39,622,572...39,665,335
Ensembl chr15:39,638,510...39,669,473
|
|
G |
Rcbtb2 |
RCC1 and BTB domain containing protein 2 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:55,029,388...55,074,728
Ensembl chr15:55,034,033...55,073,437
|
|
G |
Rnaseh2b |
ribonuclease H2, subunit B |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
|
|
G |
Scel |
sciellin |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:87,689,190...87,820,731
Ensembl chr15:87,704,340...87,820,779
|
|
G |
Serpine3 |
serpin family E member 3 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:45,827,983...45,855,952
Ensembl chr15:45,834,302...45,858,335
|
|
G |
Setdb2 |
SET domain bifurcated histone lysine methyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:38,699,135...39,745,035
Ensembl chr15:39,712,861...39,742,103 Ensembl chr15:39,712,861...39,742,103
|
|
G |
Slain1 |
SLAIN motif family, member 1 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:87,862,832...87,906,472
Ensembl chr15:87,886,783...87,906,474
|
|
G |
Slitrk1 |
SLIT and NTRK-like family, member 1 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:93,303,382...93,307,420
Ensembl chr15:93,303,382...93,307,420
|
|
G |
Slitrk6 |
SLIT and NTRK-like family, member 6 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:95,507,632...95,514,259
Ensembl chr15:95,507,640...95,514,259
|
|
G |
Spry2 |
sprouty RTK signaling antagonist 2 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:90,172,769...90,177,823
Ensembl chr15:90,172,975...90,175,802
|
|
G |
Spryd7 |
SPRY domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:41,871,144...41,890,879
Ensembl chr15:41,870,762...41,890,716
|
|
G |
Sucla2 |
succinate-CoA ligase ADP-forming subunit beta |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:55,461,695...55,516,954
Ensembl chr15:55,461,695...55,516,952
|
|
G |
Sugt1 |
SGT1 homolog, MIS12 kinetochore complex assembly cochaperone |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:61,873,158...61,913,983
Ensembl chr15:61,873,056...61,914,072
|
|
G |
Tbc1d4 |
TBC1 domain family, member 4 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:85,927,978...86,105,829
Ensembl chr15:85,930,044...86,105,273
|
|
G |
Tdrd3 |
tudor domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:70,732,164...70,864,855
Ensembl chr15:70,790,125...70,859,185
|
|
G |
Thsd1 |
thrombospondin type 1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr16:74,680,621...74,712,368
Ensembl chr16:74,680,621...74,710,704
|
|
G |
Trim13 |
tripartite motif-containing 13 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:41,897,191...41,936,545
Ensembl chr15:41,927,241...41,935,718
|
|
G |
Uchl3 |
ubiquitin C-terminal hydrolase L3 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:86,153,624...86,198,127
Ensembl chr15:86,153,628...86,198,127
|
|
G |
Vps36 |
vacuolar protein sorting 36 homolog |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr16:74,719,642...74,743,921
Ensembl chr16:74,719,553...74,743,927
|
|
G |
Wdfy2 |
WD repeat and FYVE domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 13q DELETION SYNDROME |
ClinVar |
|
|
NCBI chr15:46,008,613...46,134,319
Ensembl chr15:46,008,613...46,134,064
|
|
|
G |
Acod1 |
aconitate decarboxylase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:93,612,968...93,622,322
Ensembl chr15:93,612,971...93,622,358
|
|
G |
Alg11 |
ALG11, alpha-1,2-mannosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr16:74,854,007...74,866,096
Ensembl chr16:74,857,562...74,864,816
|
|
G |
Arl11 |
ADP-ribosylation factor like GTPase 11 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:41,639,985...41,645,685
Ensembl chr15:41,643,541...41,645,685
|
|
G |
Atp7b |
ATPase copper transporting beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
|
|
G |
Bora |
bora, aurora kinase A activator |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:83,442,217...83,463,737
Ensembl chr15:83,442,144...83,463,717
|
|
G |
Cab39l |
calcium binding protein 39-like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:39,745,124...39,849,022
Ensembl chr15:39,759,257...39,870,208
|
|
G |
Ccdc70 |
coiled-coil domain containing 70 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr16:74,958,897...74,963,925
Ensembl chr16:74,958,897...74,963,044
|
|
G |
Cdadc1 |
cytidine and dCMP deaminase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:39,865,094...39,894,122
Ensembl chr15:39,882,210...39,893,979
|
|
G |
Ckap2 |
cytoskeleton associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr16:74,752,655...74,779,184
Ensembl chr16:74,752,655...74,779,184
|
|
G |
Cln5 |
CLN5, intracellular trafficking protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:93,634,815...93,644,146
|
|
G |
Cnmd |
chondromodulin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:61,923,291...61,947,840
Ensembl chr15:61,923,299...61,947,764
|
|
G |
Commd6 |
COMM domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:86,136,096...86,142,672
Ensembl chr15:86,136,096...86,142,672
|
|
G |
Cysltr2 |
cysteinyl leukotriene receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:54,903,290...54,941,742
Ensembl chr15:54,905,274...54,906,203
|
|
G |
Dach1 |
dachshund family transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:82,095,003...82,482,272
Ensembl chr15:82,099,159...82,482,009
|
|
G |
Diaph3 |
diaphanous-related formin 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:69,928,507...70,400,077
Ensembl chr15:70,039,424...70,399,924
|
|
G |
Dis3 |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:83,466,330...83,494,107
Ensembl chr15:83,466,428...83,494,423
|
|
G |
Dleu7 |
deleted in lymphocytic leukemia, 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:45,360,505...45,378,840
Ensembl chr15:45,360,503...45,376,476
|
|
G |
Ebpl |
EBP like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:41,668,119...41,691,518
Ensembl chr15:41,668,119...41,691,518
|
|
G |
Ednrb |
endothelin receptor type B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
|
|
G |
Fam124a |
family with sequence similarity 124 member A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:45,711,994...45,780,395
Ensembl chr15:45,712,821...45,780,405
|
|
G |
Fbxl3 |
F-box and leucine-rich repeat protein 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:93,647,307...93,667,395
Ensembl chr15:93,647,310...93,667,395
|
|
G |
Fndc3a |
fibronectin type III domain containing 3a |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:54,378,865...54,582,954
Ensembl chr15:54,381,044...54,528,480
|
|
G |
Ints6 |
integrator complex subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:45,844,050...45,929,996
Ensembl chr15:45,858,608...45,947,030
|
|
G |
Itm2b |
integral membrane protein 2B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
|
|
G |
Kcnrg |
potassium channel regulator |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:41,937,880...41,942,205
Ensembl chr15:41,937,880...41,942,205
|
|
G |
Kctd12 |
potassium channel tetramerization domain containing 12 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:87,384,632...87,390,627
|
|
G |
Klf12 |
Kruppel-like factor 12 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:84,316,986...84,748,549
Ensembl chr15:84,324,470...84,748,525
|
|
G |
Klf5 |
Kruppel-like factor 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:83,703,796...83,722,921
Ensembl chr15:83,703,791...83,722,921
|
|
G |
Klhl1 |
kelch-like family member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:80,270,846...80,714,176
Ensembl chr15:80,271,731...80,713,153
|
|
G |
Kpna3 |
karyopherin subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:41,696,356...41,770,112
Ensembl chr15:41,698,281...41,770,112
|
|
G |
Lmo7 |
LIM domain 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:86,242,911...86,458,512
Ensembl chr15:86,243,148...86,457,739
|
|
G |
LOC102554746 |
uncharacterized LOC102554746 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:45,559,028...45,581,410
|
|
G |
Lpar6 |
lysophosphatidic acid receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:55,126,953...55,128,762
Ensembl chr15:55,126,953...55,128,761
|
|
G |
Med4 |
mediator complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:55,406,543...55,416,816
Ensembl chr15:55,406,543...55,416,815
|
|
G |
Mycbp2 |
MYC binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:87,405,472...87,450,812 NCBI chr15:93,678,062...93,901,556
Ensembl chr15:87,506,959...93,868,301
|
|
G |
Mzt1 |
mitotic spindle organizing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:83,429,437...83,442,118
Ensembl chr15:83,431,178...83,442,008
|
|
G |
Ndfip2 |
Nedd4 family interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:89,407,426...89,458,983
Ensembl chr15:89,407,426...89,458,983
|
|
G |
Nek3 |
NIMA-related kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr16:74,781,371...74,806,567
Ensembl chr16:74,785,281...74,806,149
|
|
G |
Nek5 |
NIMA-related kinase 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr16:74,809,513...74,851,895
Ensembl chr16:74,810,938...74,848,113
|
|
G |
Nudt15 |
nudix hydrolase 15 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:55,417,774...55,456,698
Ensembl chr15:55,419,502...55,456,698
|
|
G |
Obi1 |
ORC ubiquitin ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:88,632,089...88,670,325
Ensembl chr15:88,631,794...88,670,349
|
|
G |
Olfm4 |
olfactomedin 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:62,384,263...62,429,450
Ensembl chr15:62,406,873...62,429,449
|
|
G |
Pcdh17 |
protocadherin 17 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:67,555,835...67,647,990
Ensembl chr15:67,555,835...67,645,088
|
|
G |
Pcdh20 |
protocadherin 20 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:71,772,777...71,779,033
Ensembl chr15:71,772,777...71,779,033
|
|
G |
Pcdh8 |
protocadherin 8 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:62,196,469...62,201,498
Ensembl chr15:62,197,060...62,200,837
|
|
G |
Pcdh9 |
protocadherin 9 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:76,787,108...77,738,668
Ensembl chr15:77,733,402...77,736,892
|
|
G |
Phf11 |
PHD finger protein 11 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:38,692,817...39,683,417
Ensembl chr15:38,647,779...38,709,984
|
|
G |
Pibf1 |
progesterone immunomodulatory binding factor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:83,494,110...83,663,202
Ensembl chr15:83,495,377...83,663,143
|
|
G |
Pou4f1 |
POU class 4 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:88,618,255...88,622,712
Ensembl chr15:88,620,470...88,622,413
|
|
G |
Prr20e |
proline rich 20E |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:121,040,810...121,053,910
Ensembl chr 4:121,046,277...121,052,552
|
|
G |
Rb1 |
RB transcriptional corepressor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
|
|
G |
Rbm26 |
RNA binding motif protein 26 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:89,262,683...89,339,323
Ensembl chr15:89,266,710...89,339,323
|
|
G |
Rcbtb1 |
RCC1 and BTB domain containing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:39,622,572...39,665,335
Ensembl chr15:39,638,510...39,669,473
|
|
G |
Rcbtb2 |
RCC1 and BTB domain containing protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:55,029,388...55,074,728
Ensembl chr15:55,034,033...55,073,437
|
|
G |
Rnaseh2b |
ribonuclease H2, subunit B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
|
|
G |
Scel |
sciellin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:87,689,190...87,820,731
Ensembl chr15:87,704,340...87,820,779
|
|
G |
Serpine3 |
serpin family E member 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:45,827,983...45,855,952
Ensembl chr15:45,834,302...45,858,335
|
|
G |
Setdb2 |
SET domain bifurcated histone lysine methyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:38,699,135...39,745,035
Ensembl chr15:39,712,861...39,742,103 Ensembl chr15:39,712,861...39,742,103
|
|
G |
Slain1 |
SLAIN motif family, member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:87,862,832...87,906,472
Ensembl chr15:87,886,783...87,906,474
|
|
G |
Slitrk1 |
SLIT and NTRK-like family, member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:93,303,382...93,307,420
Ensembl chr15:93,303,382...93,307,420
|
|
G |
Slitrk6 |
SLIT and NTRK-like family, member 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:95,507,632...95,514,259
Ensembl chr15:95,507,640...95,514,259
|
|
G |
Spry2 |
sprouty RTK signaling antagonist 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:90,172,769...90,177,823
Ensembl chr15:90,172,975...90,175,802
|
|
G |
Spryd7 |
SPRY domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:41,871,144...41,890,879
Ensembl chr15:41,870,762...41,890,716
|
|
G |
Sucla2 |
succinate-CoA ligase ADP-forming subunit beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:55,461,695...55,516,954
Ensembl chr15:55,461,695...55,516,952
|
|
G |
Sugt1 |
SGT1 homolog, MIS12 kinetochore complex assembly cochaperone |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:61,873,158...61,913,983
Ensembl chr15:61,873,056...61,914,072
|
|
G |
Tbc1d4 |
TBC1 domain family, member 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:85,927,978...86,105,829
Ensembl chr15:85,930,044...86,105,273
|
|
G |
Tdrd3 |
tudor domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:70,732,164...70,864,855
Ensembl chr15:70,790,125...70,859,185
|
|
G |
Thsd1 |
thrombospondin type 1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr16:74,680,621...74,712,368
Ensembl chr16:74,680,621...74,710,704
|
|
G |
Trim13 |
tripartite motif-containing 13 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:41,897,191...41,936,545
Ensembl chr15:41,927,241...41,935,718
|
|
G |
Uchl3 |
ubiquitin C-terminal hydrolase L3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:86,153,624...86,198,127
Ensembl chr15:86,153,628...86,198,127
|
|
G |
Vps36 |
vacuolar protein sorting 36 homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr16:74,719,642...74,743,921
Ensembl chr16:74,719,553...74,743,927
|
|
G |
Wdfy2 |
WD repeat and FYVE domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:46,008,613...46,134,319
Ensembl chr15:46,008,613...46,134,064
|
|
|
G |
Atp10a |
ATPase phospholipid transporting 10A (putative) |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:115,973,343...116,141,892
Ensembl chr 1:115,975,324...116,141,892
|
|
G |
Auts2 |
activator of transcription and developmental regulator AUTS2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25205402 PMID:25741868 PMID:28505103 |
|
NCBI chr12:27,155,362...28,252,752
Ensembl chr12:28,212,333...28,251,816
|
|
G |
Ccdc92b |
coiled-coil domain containing 92B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:61,403,120...61,424,262
Ensembl chr10:61,403,130...61,421,990
|
|
G |
Cluh |
clustered mitochondria homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:61,432,872...61,454,445
Ensembl chr10:61,432,819...61,454,444
|
|
G |
Gabra5 |
gamma-aminobutyric acid type A receptor subunit alpha 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:112,833,941...112,947,482
Ensembl chr 1:112,833,944...112,947,451
|
|
G |
Gabrb3 |
gamma-aminobutyric acid type A receptor subunit beta 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
|
|
G |
Gabrg3 |
gamma-aminobutyric acid type A receptor subunit gamma 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:112,158,525...112,812,267
Ensembl chr 1:112,158,519...112,811,936
|
|
G |
Herc2 |
HECT and RLD domain containing E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:114,453,033...114,653,787
Ensembl chr 1:114,453,054...114,653,793
|
|
G |
Magel2 |
MAGE family member L2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:123,015,404...123,019,945
Ensembl chr 1:123,015,746...123,019,522
|
|
G |
Mkrn3 |
makorin, ring finger protein, 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:123,062,049...123,064,763
Ensembl chr 1:123,062,863...123,064,642
|
|
G |
Ndn |
necdin, MAGE family member |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:122,981,755...122,983,354
Ensembl chr 1:122,981,755...122,983,351
|
|
G |
Oca2 |
OCA2 melanosomal transmembrane protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:114,661,970...114,987,433
Ensembl chr 1:114,679,537...114,987,433
|
|
G |
Pafah1b1 |
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:61,456,144...61,577,412
Ensembl chr10:61,456,145...61,577,412
|
|
G |
Rap1gap2 |
RAP1 GTPase activating protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:61,177,936...61,395,856
Ensembl chr10:61,177,936...61,361,250
|
|
G |
Snrpn |
small nuclear ribonucleoprotein polypeptide N |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:195,074,328...195,096,460
Ensembl chr 1:195,074,330...195,096,460
|
|
G |
Snurf |
SNRPN upstream reading frame |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:195,074,328...195,096,694
Ensembl chr 1:195,074,330...195,096,694
|
|
G |
Ube3a |
ubiquitin protein ligase E3A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:116,586,901...116,678,161
Ensembl chr 1:116,587,815...116,679,973
|
|
|
G |
Chrna7 |
cholinergic receptor nicotinic alpha 7 subunit |
|
ISO |
ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
|
|
NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196
|
|
G |
Fan1 |
FANCD2 and FANCI associated nuclease 1 |
|
ISO |
ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr 1:125,182,117...125,209,772
Ensembl chr 1:125,181,838...125,209,727
|
|
G |
Klf13 |
Kruppel-like factor 13 |
|
ISO |
ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
|
|
NCBI chr 1:124,772,596...124,803,363
Ensembl chr 1:124,772,596...124,803,363
|
|
G |
Mir211 |
microRNA 211 |
|
ISO |
ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr 1:125,042,119...125,042,224
Ensembl chr 1:125,042,119...125,042,224
|
|
G |
Mtmr10 |
myotubularin related protein 10 |
|
ISO |
ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr 1:125,124,743...125,175,857
Ensembl chr 1:125,124,743...125,175,857
|
|
G |
Otud7a |
OTU deubiquitinase 7A |
|
ISO ISS |
ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome OMIM:612001 |
ClinVar MouseDO |
|
|
NCBI chr 1:124,311,873...124,655,437
Ensembl chr 1:124,625,985...124,653,820
|
|
G |
Trpm1 |
transient receptor potential cation channel, subfamily M, member 1 |
|
ISO |
ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr 1:124,983,391...125,101,759
Ensembl chr 1:124,983,452...125,099,573
|
|
|
G |
Commd4 |
COMM domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
|
NCBI chr 8:61,833,340...61,836,872
Ensembl chr 8:61,833,326...61,836,945
|
|
G |
Cspg4 |
chondroitin sulfate proteoglycan 4 |
|
ISO |
ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
|
NCBI chr 8:61,532,465...61,567,510
Ensembl chr 8:61,532,465...61,567,510
|
|
G |
Imp3 |
IMP U3 small nucleolar ribonucleoprotein 3 |
|
ISO |
ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
|
NCBI chr 8:61,607,021...61,607,909
Ensembl chr 8:61,607,015...61,608,457
|
|
G |
Man2c1 |
mannosidase, alpha, class 2C, member 1 |
|
ISO |
ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
|
NCBI chr 8:61,805,697...61,816,800
Ensembl chr 8:61,805,677...61,816,800
|
|
G |
Neil1 |
nei-like DNA glycosylase 1 |
|
ISO |
ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
|
NCBI chr 8:61,817,258...61,824,023
Ensembl chr 8:61,817,258...61,823,102
|
|
G |
Odf3l1 |
outer dense fiber of sperm tails 3-like 1 |
|
ISO |
ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
|
NCBI chr 8:61,516,249...61,542,946
Ensembl chr 8:61,516,268...61,519,507
|
|
G |
Ptpn9 |
protein tyrosine phosphatase, non-receptor type 9 |
|
ISO |
ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
|
NCBI chr 8:61,658,851...61,739,458
Ensembl chr 8:61,659,445...61,739,434
|
|
G |
Sin3a |
SIN3 transcription regulator family member A |
|
ISO |
ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome |
ClinVar OMIM |
PMID:18755302 PMID:19557438 PMID:21681106 PMID:25741868 PMID:27399968 PMID:30267900 |
|
NCBI chr 8:61,748,590...61,803,314
Ensembl chr 8:61,762,768...61,803,099
|
|
G |
Snupn |
snurportin 1 |
|
ISO |
ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
|
NCBI chr 8:61,614,798...61,654,809
Ensembl chr 8:61,615,650...61,648,390
|
|
G |
Snx33 |
sorting nexin 33 |
|
ISO |
ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
|
NCBI chr 8:61,584,656...61,596,055
Ensembl chr 8:61,584,656...61,595,032
|
|
|
G |
Kansl1 |
KAT8 regulatory NSL complex subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22544363 PMID:22544367 |
|
NCBI chr10:92,388,045...92,517,449
Ensembl chr10:92,389,530...92,476,109
|
|
G |
Tp53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14961032 |
|
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
|
|
|
G |
Rnf135 |
ring finger protein 135 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome |
CTD ClinVar |
PMID:17632510 PMID:21681106 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456 |
|
NCBI chr10:67,531,989...67,551,237
|
|
|
G |
Aatf |
apoptosis antagonizing transcription factor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
|
NCBI chr10:71,744,648...71,837,851
Ensembl chr10:71,744,659...71,837,851
|
|
G |
Acaca |
acetyl-CoA carboxylase alpha |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
|
NCBI chr10:71,519,392...71,719,910
Ensembl chr10:71,536,533...71,719,910
|
|
G |
Ccl3 |
C-C motif chemokine ligand 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:24088041 PMID:26633545 |
|
NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066
|
|
G |
Ccl4 |
C-C motif chemokine ligand 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:24088041 PMID:26633545 |
|
NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
|
|
G |
Ddx52 |
DExD-box helicase 52 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
|
NCBI chr10:71,253,667...71,276,397
Ensembl chr10:71,253,598...71,277,277
|
|
G |
Dhrs11 |
dehydrogenase/reductase 11 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
|
NCBI chr10:72,144,042...72,153,496
Ensembl chr10:72,144,042...72,153,375
|
|
G |
Dusp14 |
dual specificity phosphatase 14 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
|
NCBI chr10:71,363,688...71,383,602
Ensembl chr10:71,363,688...71,383,602
|
|
G |
Ggnbp2 |
gametogenetin binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
|
NCBI chr10:72,156,729...72,188,834
Ensembl chr10:72,156,728...72,188,308
|
|
G |
Hnf1b |
HNF1 homeobox B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
|
NCBI chr10:71,159,863...71,218,902
Ensembl chr10:71,159,869...71,218,902
|
|
G |
Lhx1 |
LIM homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
|
NCBI chr10:71,843,991...71,849,293
Ensembl chr10:71,843,991...71,849,293
|
|
G |
LOC102552988 |
uncharacterized LOC102552988 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
|
NCBI chr10:71,462,168...71,493,312
Ensembl chr10:71,464,677...71,491,743
|
|
G |
Mrm1 |
mitochondrial rRNA methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
|
NCBI chr10:72,136,241...72,143,075
Ensembl chr10:72,136,246...72,142,533
|
|
G |
Mrpl45 |
mitochondrial ribosomal protein L45 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:24088041 PMID:26633545 |
|
NCBI chr10:85,257,876...85,269,806
Ensembl chr10:85,257,876...85,269,806
|
|
G |
Myo19 |
myosin XIX |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
|
NCBI chr10:72,198,475...72,227,892
Ensembl chr10:72,197,977...72,227,462
|
|
G |
Pigw |
phosphatidylinositol glycan anchor biosynthesis, class W |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
|
NCBI chr10:72,194,774...72,198,415
Ensembl chr10:72,194,929...72,196,437
|
|
G |
Synrg |
synergin, gamma |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
|
NCBI chr10:71,278,698...71,357,791
|
|
G |
Tada2a |
transcriptional adaptor 2A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
|
NCBI chr10:71,393,701...71,441,435
Ensembl chr10:71,393,692...71,441,389
|
|
G |
Znhit3 |
zinc finger, HIT-type containing 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
|
NCBI chr10:72,227,710...72,235,932
Ensembl chr10:72,228,222...72,235,888
|
|
|
G |
Adnp2 |
ADNP homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:76,637,415...76,661,186
Ensembl chr18:76,637,785...76,653,056
|
|
G |
Atp9b |
ATPase phospholipid transporting 9B (putative) |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:77,343,551...77,535,608
Ensembl chr18:77,343,551...77,535,593
|
|
G |
Bcl2 |
BCL2, apoptosis regulator |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
|
|
G |
Cbln2 |
cerebellin 2 precursor |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:83,775,568...83,783,841
Ensembl chr18:83,777,665...83,782,930
|
|
G |
Cd226 |
CD226 molecule |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:86,299,392...86,394,772
Ensembl chr18:86,299,463...86,394,765
|
|
G |
Cdh19 |
cadherin 19 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr13:32,344,954...32,469,887
Ensembl chr13:32,344,966...32,427,177
|
|
G |
Cdh20 |
cadherin 20 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr13:24,630,298...24,914,463
Ensembl chr13:24,823,488...24,913,884
|
|
G |
Cdh7 |
cadherin 7 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr13:31,081,064...31,228,884
Ensembl chr13:31,081,804...31,231,213
|
|
G |
Cndp1 |
carnosine dipeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:81,466,717...81,512,841
Ensembl chr18:81,466,716...81,499,051
|
|
G |
Cndp2 |
carnosine dipeptidase 2 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:81,521,966...81,539,065
Ensembl chr18:81,521,968...81,539,065
|
|
G |
Ctdp1 |
CTD phosphatase subunit 1 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:76,922,913...76,985,095
Ensembl chr18:76,922,934...76,984,203
|
|
G |
Cyb5a |
cytochrome b5 type A |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:81,694,818...81,726,821
Ensembl chr18:81,694,808...81,726,821
|
|
G |
Dipk1c |
divergent protein kinase domain 1C |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:81,569,693...81,591,683
Ensembl chr18:81,569,910...81,590,887
|
|
G |
Dok6 |
docking protein 6 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:86,420,361...86,878,142
Ensembl chr18:86,420,361...86,878,142
|
|
G |
Dsel |
dermatan sulfate epimerase-like |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr13:1,942,384...1,948,563
Ensembl chr13:1,942,499...1,946,508
|
|
G |
Fbxo15 |
F-box protein 15 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:81,785,408...81,882,796
Ensembl chr18:81,821,127...81,882,796
|
|
G |
Galr1 |
galanin receptor 1 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:79,243,009...79,258,570
Ensembl chr18:79,243,009...79,258,570
|
|
G |
Hsbp1l1 |
heat shock factor binding protein 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:76,748,067...76,754,642
Ensembl chr18:76,748,067...76,753,902
|
|
G |
Kcng2 |
potassium voltage-gated channel modifier subfamily G member 2 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:76,808,294...76,880,742
Ensembl chr18:76,809,144...76,878,981
|
|
G |
Kdsr |
3-ketodihydrosphingosine reductase |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr13:26,779,386...26,812,271
Ensembl chr13:26,780,633...26,812,215
|
|
G |
LOC100359752 |
hypothetical protein LOC100359752 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:81,644,346...81,683,983
Ensembl chr18:81,644,858...81,682,206
|
|
G |
Mbp |
myelin basic protein |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
|
|
G |
Mc4r |
melanocortin 4 receptor |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:62,612,838...62,614,725
Ensembl chr18:62,612,838...62,614,725
|
|
G |
Neto1 |
neuropilin and tolloid like 1 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:83,471,342...83,585,043
Ensembl chr18:83,471,342...83,584,357
|
|
G |
Nfatc1 |
nuclear factor of activated T-cells 1 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:77,203,517...77,322,690
Ensembl chr18:77,203,525...77,322,690
|
|
G |
Pard6g |
par-6 family cell polarity regulator gamma |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:76,559,877...76,627,843
Ensembl chr18:76,559,811...76,628,041
|
|
G |
Phlpp1 |
PH domain and leucine rich repeat protein phosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr13:26,145,989...26,394,505
Ensembl chr13:26,172,243...26,394,505
|
|
G |
Pign |
phosphatidylinositol glycan anchor biosynthesis, class N |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr13:25,510,593...25,662,943
Ensembl chr13:25,513,892...25,652,473
|
|
G |
Rbfa |
ribosome binding factor A |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:76,704,223...76,714,387
Ensembl chr18:76,704,220...76,714,486
|
|
G |
Relch |
RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr13:25,656,983...25,752,792
Ensembl chr13:25,656,983...25,752,792
|
|
G |
Rnf152 |
ring finger protein 152 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr13:25,183,295...25,262,785
Ensembl chr13:25,186,106...25,262,469
|
|
G |
Rttn |
rotatin |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:86,071,884...86,247,486
Ensembl chr18:86,071,662...86,247,486
|
|
G |
Sall3 |
spalt-like transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:77,572,200...77,591,710
Ensembl chr18:77,573,702...77,579,969
|
|
G |
Serpinb10 |
serpin family B member 10 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr13:27,466,036...27,483,789
Ensembl chr13:27,465,930...27,483,799
|
|
G |
Serpinb11 |
serpin family B member 11 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr13:27,217,385...27,257,181
Ensembl chr13:27,238,767...27,257,181
|
|
G |
Serpinb12 |
serpin family B member 12 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr13:26,970,824...26,999,709
Ensembl chr13:26,970,660...26,998,357
|
|
G |
Serpinb13 |
serpin family B member 13 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr13:27,032,048...27,062,620
Ensembl chr13:27,032,048...27,062,620
|
|
G |
Serpinb2 |
serpin family B member 2 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr13:27,449,907...27,463,015
Ensembl chr13:27,449,934...27,463,010
|
|
G |
Serpinb3 |
serpin family B member 3 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr13:27,186,701...27,193,211
Ensembl chr13:27,187,130...27,192,592
|
|
G |
Serpinb3a |
serpin family B member 3A |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr13:27,153,500...27,159,319
Ensembl chr13:27,153,925...27,158,628
|
|
G |
Serpinb5 |
serpin family B member 5 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr13:26,903,052...26,923,250
Ensembl chr13:26,903,052...26,923,250
|
|
G |
Serpinb7 |
serpin family B member 7 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr13:27,282,456...27,354,775
Ensembl chr13:27,312,498...27,354,052
|
|
G |
Serpinb8 |
serpin family B member 8 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr13:27,876,662...27,914,038
Ensembl chr13:27,889,345...27,914,006
|
|
G |
Slc66a2 |
solute carrier family 66 member 2 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:76,768,466...76,805,773
Ensembl chr18:76,770,012...76,805,766
|
|
G |
Socs6 |
suppressor of cytokine signaling 6 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:85,962,729...85,981,125
Ensembl chr18:85,962,729...85,980,833
|
|
G |
Timm21 |
translocase of inner mitochondrial membrane 21 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:81,803,165...81,807,627
Ensembl chr18:81,803,173...81,807,627
|
|
G |
Tmx3 |
thioredoxin-related transmembrane protein 3 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:87,580,227...87,613,481
Ensembl chr18:87,580,424...87,610,390
|
|
G |
Tnfrsf11a |
TNF receptor superfamily member 11A |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957
|
|
G |
Tshz1 |
teashirt zinc finger homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:80,860,995...80,907,744
Ensembl chr18:80,862,372...80,865,584
|
|
G |
Txnl4a |
thioredoxin-like 4A |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:76,725,221...76,740,673
Ensembl chr18:76,725,247...76,740,688
|
|
G |
Vps4b |
vacuolar protein sorting 4 homolog B |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr13:26,825,261...26,850,460
Ensembl chr13:26,825,261...26,850,460
|
|
G |
Zadh2 |
zinc binding alcohol dehydrogenase, domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:80,939,875...80,949,226
Ensembl chr18:80,939,875...80,949,226
|
|
G |
Zcchc2 |
zinc finger CCHC-type containing 2 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr13:25,961,762...26,052,472
Ensembl chr13:25,966,428...26,013,338
|
|
G |
Zfp236 |
zinc finger protein 236 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:79,447,384...79,543,271
Ensembl chr18:79,451,204...79,543,219
|
|
G |
Zfp407 |
zinc finger protein 407 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:81,057,507...81,453,682
Ensembl chr18:81,057,519...81,428,971
|
|
G |
Zfp516 |
zinc finger protein 516 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr18:79,768,387...79,857,909
Ensembl chr18:79,773,608...79,854,192
|
|
|
G |
Uba2 |
ubiquitin-like modifier activating enzyme 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 19q13.11 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:90,010,681...90,035,522
Ensembl chr 1:90,011,306...90,035,522
|
|
|
G |
Actrt2 |
actin-related protein T2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:172,077,290...172,078,690
Ensembl chr 5:172,077,282...172,078,760
|
|
G |
Arhgef16 |
Rho guanine nucleotide exchange factor 16 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:171,626,450...171,649,124
Ensembl chr 5:171,624,796...171,648,563
|
|
G |
Casz1 |
castor zinc finger 1 |
|
ISS |
OMIM:607872 |
MouseDO |
|
|
NCBI chr 5:165,625,119...165,777,053
Ensembl chr 5:165,724,027...165,774,616
|
|
G |
Ccdc27 |
coiled-coil domain containing 27 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:171,312,790...171,327,581
Ensembl chr 5:171,312,793...171,327,450
|
|
G |
Cep104 |
centrosomal protein 104 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:171,262,278...171,294,560
Ensembl chr 5:171,262,278...171,294,559
|
|
G |
Cfap74 |
cilia and flagella associated protein 74 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:172,817,221...172,884,996
Ensembl chr 5:172,825,072...172,858,053
|
|
G |
Dffb |
DNA fragmentation factor subunit beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:171,250,559...171,261,875
Ensembl chr 5:171,249,633...171,262,119
|
|
G |
Faap20 |
FA core complex associated protein 20 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:172,648,171...172,655,576
Ensembl chr 5:172,648,950...172,655,576
|
|
G |
Gabrd |
gamma-aminobutyric acid type A receptor subunit delta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:172,797,478...172,809,374
Ensembl chr 5:172,797,450...172,809,353
|
|
G |
Gnb1 |
G protein subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
|
|
G |
Hes5 |
hes family bHLH transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:172,364,421...172,365,188
Ensembl chr 5:172,364,421...172,365,188
|
|
G |
Kcnab2 |
potassium voltage-gated channel subfamily A regulatory beta subunit 2 |
|
ISS |
OMIM:607872 |
MouseDO |
|
|
NCBI chr 5:169,570,327...169,658,875
Ensembl chr 5:169,572,517...169,658,875
|
|
G |
Lrrc47 |
leucine rich repeat containing 47 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:171,297,850...171,307,682
Ensembl chr 5:171,297,850...171,307,682
|
|
G |
Megf6 |
multiple EGF-like-domains 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:171,588,901...171,620,947
Ensembl chr 5:171,472,273...171,620,947
|
|
G |
Mmel1 |
membrane metallo-endopeptidase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:172,273,450...172,303,905
Ensembl chr 5:172,273,459...172,304,225
|
|
G |
Morn1 |
MORN repeat containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:172,489,160...172,547,102
Ensembl chr 5:172,488,708...172,547,058
|
|
G |
Nadk |
NAD kinase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:172,984,930...173,015,505
Ensembl chr 5:172,986,291...173,015,494
|
|
G |
Pank4 |
pantothenate kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:172,367,593...172,384,077
Ensembl chr 5:172,367,398...172,384,269
|
|
G |
Pex10 |
peroxisomal biogenesis factor 10 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144
|
|
G |
Plch2 |
phospholipase C, eta 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:172,386,400...172,455,965
Ensembl chr 5:172,388,598...172,424,081
|
|
G |
Prdm16 |
PR/SET domain 16 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:171,662,277...171,711,561
Ensembl chr 5:171,662,277...171,710,316
|
|
G |
Prkcz |
protein kinase C, zeta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:172,658,071...172,769,492
Ensembl chr 5:172,658,748...172,769,421
|
|
G |
Prxl2b |
peroxiredoxin like 2B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:172,304,799...172,307,402
Ensembl chr 5:172,304,758...172,307,431
|
|
G |
Rer1 |
retention in endoplasmic reticulum sorting receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:172,476,746...172,488,822
Ensembl chr 5:172,476,747...172,488,822
|
|
G |
RGD1304567 |
similar to RIKEN cDNA A430005L14 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:171,242,899...171,247,344
Ensembl chr 5:171,242,897...171,247,346
|
|
G |
Ski |
SKI proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:172,556,196...172,623,878
Ensembl chr 5:172,559,135...172,623,899
|
|
G |
Smim1 |
small integral membrane protein 1 (Vel blood group) |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:171,306,836...171,312,109
Ensembl chr 5:171,309,335...171,312,026
|
|
G |
Tmem52 |
transmembrane protein 52 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:172,887,587...172,889,349
Ensembl chr 5:172,887,217...172,889,383
|
|
G |
Tnfrsf14 |
TNF receptor superfamily member 14 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:172,328,259...172,337,221
Ensembl chr 5:172,328,262...172,335,892
|
|
G |
Tp73 |
tumor protein p73 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:171,355,876...171,415,354
Ensembl chr 5:171,355,876...171,415,354
|
|
G |
Tprg1l |
tumor protein p63 regulated 1-like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:171,456,299...171,459,488
Ensembl chr 5:171,456,302...171,459,488
|
|
G |
Ttc34 |
tetratricopeptide repeat domain 34 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:172,253,257...172,271,056
Ensembl chr 5:172,259,520...172,269,213
|
|
G |
Wrap73 |
WD repeat containing, antisense to TP73 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:171,441,471...171,455,795
Ensembl chr 5:171,441,560...171,455,650
|
|
|
G |
Acp6 |
acid phosphatase 6, lysophosphatidic |
|
ISO |
ClinVar Annotator: match by term: 1q21.1 Deletion |
ClinVar |
|
|
NCBI chr 2:199,284,177...199,305,793
Ensembl chr 2:199,283,909...199,305,799
|
|
G |
Bcl9 |
BCL9, transcription coactivator |
|
ISO |
ClinVar Annotator: match by term: 1q21.1 Deletion |
ClinVar |
|
|
NCBI chr 2:199,334,644...199,420,083
Ensembl chr 2:199,334,664...199,354,793
|
|
G |
Chd1l |
chromodomain helicase DNA binding protein 1-like |
|
ISO |
ClinVar Annotator: match by term: 1q21.1 Deletion |
ClinVar |
|
|
NCBI chr 2:199,714,044...199,792,270
Ensembl chr 2:199,716,713...199,771,896
|
|
G |
Fmo5 |
flavin containing dimethylaniline monoxygenase 5 |
|
ISO |
ClinVar Annotator: match by term: 1q21.1 Deletion |
ClinVar |
|
|
NCBI chr 2:199,796,870...199,823,927
Ensembl chr 2:199,796,881...199,823,927
|
|
G |
Gja5 |
gap junction protein, alpha 5 |
|
ISO |
ClinVar Annotator: match by term: 1q21.1 Deletion CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:25741868 PMID:28492532 |
|
NCBI chr 2:199,162,745...199,184,942
Ensembl chr 2:199,162,745...199,184,939
|
|
G |
Gja8 |
gap junction protein, alpha 8 |
|
ISO |
ClinVar Annotator: match by term: 1q21.1 Deletion CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:25741868 |
|
NCBI chr 2:199,050,854...199,052,470
Ensembl chr 2:199,050,854...199,052,470
|
|
G |
Gpr89b |
G protein-coupled receptor 89B |
|
ISO |
ClinVar Annotator: match by term: 1q21.1 Deletion |
ClinVar |
|
|
NCBI chr 2:198,999,945...199,038,702
Ensembl chr 2:198,999,946...199,038,702
|
|
G |
Prkab2 |
protein kinase AMP-activated non-catalytic subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: 1q21.1 Deletion |
ClinVar |
|
|
NCBI chr 2:199,831,990...199,847,623
Ensembl chr 2:199,831,990...199,847,629
|
|
|
G |
Tp53bp2 |
tumor protein p53 binding protein, 2 |
|
ISS |
OMIM:612530 |
MouseDO |
|
|
NCBI chr13:100,817,206...100,873,837
Ensembl chr13:100,817,359...100,873,890
|
|
|
G |
Ccdc116 |
coiled-coil domain containing 116 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr11:88,092,794...88,100,220
Ensembl chr11:88,095,170...88,098,252
|
|
G |
Mapk1 |
mitogen activated protein kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
|
|
G |
Mir130b |
microRNA 130b |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr11:88,129,773...88,129,854
Ensembl chr11:88,129,773...88,129,854
|
|
G |
Ppil2 |
peptidylprolyl isomerase like 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr11:88,147,342...88,169,968
Ensembl chr11:88,147,377...88,169,968
|
|
G |
Ppm1f |
protein phosphatase, Mg2+/Mn2+ dependent, 1F |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr11:88,313,709...88,343,726
Ensembl chr11:88,313,709...88,343,627
|
|
G |
Prame |
PRAME nuclear receptor transcriptional regulator |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr X:106,082,984...106,091,256
Ensembl chr X:106,083,203...106,085,878
|
|
G |
Rimbp3 |
RIMS binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr11:88,033,213...88,039,002
Ensembl chr11:88,033,180...88,038,518
|
|
G |
Sdf2l1 |
stromal cell-derived factor 2-like 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr11:88,122,271...88,124,513
Ensembl chr11:88,122,271...88,124,513
|
|
G |
Tmem191c |
transmembrane protein 191C |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr11:87,975,508...87,982,861
Ensembl chr11:87,975,527...87,977,368
|
|
G |
Top3b |
DNA topoisomerase III beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr11:88,346,305...88,374,896
Ensembl chr11:88,346,313...88,374,679
|
|
G |
Ube2l3 |
ubiquitin-conjugating enzyme E2L 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr11:88,047,186...88,088,477
Ensembl chr11:88,047,832...88,088,476
|
|
G |
Vpreb1 |
V-set pre-B cell surrogate light chain 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr11:88,376,256...88,377,133
Ensembl chr11:88,376,256...88,377,133
|
|
G |
Ydjc |
YdjC chitooligosaccharide deacetylase homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr11:88,089,142...88,094,254
Ensembl chr11:88,090,921...88,093,516
|
|
G |
Ypel1 |
yippee-like 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr11:88,171,401...88,186,000
Ensembl chr11:88,173,890...88,180,542
|
|
G |
Zfp280b |
zinc finger protein 280B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:31690835 |
|
NCBI chr20:13,566,381...13,581,215
Ensembl chr20:13,567,803...13,581,164
|
|
|
G |
Nrxn1 |
neurexin 1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
|
|
NCBI chr 6:13,886,757...15,191,660
Ensembl chr 6:13,886,740...15,191,660
|
|
|
G |
Farp2 |
FERM, ARH/RhoGEF and pleckstrin domain protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19365831 |
|
NCBI chr 9:100,660,366...100,767,940
Ensembl chr 9:100,660,394...100,767,940
|
|
G |
Hdac4 |
histone deacetylase 4 |
|
ISO |
ClinVar Annotator: match by term: Brachydactyly-Mental Retardation syndrome CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:20691407 PMID:23188045 PMID:24715439 PMID:25741868 PMID:28492532 |
|
NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
|
|
G |
Hdlbp |
high density lipoprotein binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19365831 |
|
NCBI chr 9:100,554,574...100,624,707
Ensembl chr 9:100,554,563...100,624,638
|
|
G |
Pask |
PAS domain containing serine/threonine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19365831 |
|
NCBI chr 9:100,450,595...100,479,719
Ensembl chr 9:100,450,586...100,479,868
|
|
|
G |
Cav3 |
caveolin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21082655 |
|
NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
|
|
G |
Oxtr |
oxytocin receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21082655 |
|
NCBI chr 4:144,399,326...144,417,598
Ensembl chr 4:144,403,358...144,416,116
|
|
G |
Srgap3 |
SLIT-ROBO Rho GTPase activating protein 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21082655 |
|
NCBI chr 4:144,638,782...144,869,961
Ensembl chr 4:144,638,335...144,869,919
|
|
|
G |
Abraxas1 |
abraxas 1, BRCA1 A complex subunit |
|
ISO |
ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome |
ClinVar |
|
|
NCBI chr14:10,424,674...10,439,010
Ensembl chr14:10,424,674...10,439,003
|
|
G |
Cds1 |
CDP-diacylglycerol synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome |
ClinVar |
|
|
NCBI chr14:9,396,511...9,456,964
Ensembl chr14:9,396,512...9,456,990
|
|
G |
Cops4 |
COP9 signalosome subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome |
ClinVar |
|
|
NCBI chr14:10,718,863...10,749,134
Ensembl chr14:10,718,844...10,749,120
|
|
G |
Coq2 |
coenzyme Q2, polyprenyltransferase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome |
ClinVar |
|
|
NCBI chr14:10,581,102...10,601,093
Ensembl chr14:10,581,136...10,600,566
|
|
G |
Enoph1 |
enolase-phosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome |
ClinVar |
|
|
NCBI chr14:11,172,359...11,198,799
Ensembl chr14:11,172,362...11,198,194
|
|
G |
Gpat3 |
glycerol-3-phosphate acyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome |
ClinVar |
|
|
NCBI chr14:10,343,287...10,396,565
Ensembl chr14:10,343,282...10,395,047
|
|
G |
Helq |
helicase, POLQ-like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome |
ClinVar |
|
|
NCBI chr14:10,446,981...10,491,042
Ensembl chr14:10,446,993...10,491,190
|
|
G |
Hnrnpd |
heterogeneous nuclear ribonucleoprotein D |
|
ISO |
ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome |
ClinVar |
|
|
NCBI chr14:11,256,163...11,274,684
Ensembl chr14:11,256,268...11,274,578
|
|
G |
Hnrnpdl |
heterogeneous nuclear ribonucleoprotein D-like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome |
ClinVar |
|
|
NCBI chr14:11,199,114...11,204,670
Ensembl chr14:11,198,896...11,202,669
|
|
G |
Hpse |
heparanase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome |
ClinVar |
|
|
NCBI chr14:10,534,358...10,576,686
Ensembl chr14:10,534,423...10,575,224
|
|
G |
Lin54 |
lin-54 DREAM MuvB core complex component |
|
ISO |
ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome |
ClinVar |
|
|
NCBI chr14:10,770,072...10,828,115
Ensembl chr14:10,786,399...10,828,106
|
|
G |
Mrps18c |
mitochondrial ribosomal protein S18C |
|
ISO |
ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome |
ClinVar |
|
|
NCBI chr14:10,440,691...10,446,909
Ensembl chr14:10,440,691...10,446,909
|
|
G |
Nkx6-1 |
NK6 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome |
ClinVar |
|
|
NCBI chr14:9,555,264...9,562,197
Ensembl chr14:9,555,264...9,562,189
|
|
G |
Plac8 |
placenta associated 8 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome |
ClinVar |
|
|
NCBI chr14:10,692,799...10,714,556
Ensembl chr14:10,692,764...10,714,524
|
|
G |
Sec31a |
SEC31 homolog A, COPII coat complex component |
|
ISO |
ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome |
ClinVar |
|
|
NCBI chr14:10,854,713...10,909,579
Ensembl chr14:10,854,682...10,909,612
|
|
G |
Tmem150c |
transmembrane protein 150C |
|
ISO |
ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome |
ClinVar |
|
|
NCBI chr14:11,094,655...11,166,323
Ensembl chr14:11,095,163...11,166,428
|
|
|
G |
Fgfr4 |
fibroblast growth factor receptor 4 |
|
ISO |
ClinVar Annotator: match by term: 5q35 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:9,990,072...10,004,339
Ensembl chr17:9,990,078...10,004,321
|
|
G |
Lman2 |
lectin, mannose-binding 2 |
|
ISO |
ClinVar Annotator: match by term: 5q35 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:9,798,136...9,815,820
Ensembl chr17:9,797,907...9,816,139
|
|
G |
Mxd3 |
Max dimerization protein 3 |
|
ISO |
ClinVar Annotator: match by term: 5q35 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:9,830,326...9,834,052
Ensembl chr17:9,830,332...9,839,452
|
|
G |
Nsd1 |
nuclear receptor binding SET domain protein 1 |
|
ISO |
ClinVar Annotator: match by term: 5q35 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
|
|
G |
Prelid1 |
PRELI domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 5q35 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:9,834,245...9,837,285
Ensembl chr17:9,834,242...9,837,303
|
|
G |
Rab24 |
RAB24, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: 5q35 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:9,837,259...9,839,464
Ensembl chr17:9,830,332...9,839,452
|
|
|
G |
Klf1 |
Kruppel like factor 1 |
|
ISO |
mRNA:decreased expression:bone marrow, blood |
RGD |
PMID:22965552 |
RGD:10769343 |
NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
|
|
G |
Rps14 |
ribosomal protein S14 |
|
ISO |
|
OMIM |
|
|
NCBI chr18:56,042,532...56,047,316
Ensembl chr18:56,044,369...56,047,316
|
|
|
G |
Cbwd1 |
COBW domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 9p deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:242,819,383...242,861,792
Ensembl chr 1:242,819,390...242,861,767
|
|
G |
Foxd4 |
forkhead box D4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 9p deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:242,808,886...242,810,186
Ensembl chr 1:242,808,965...242,810,186
|
|
G |
Frem1 |
Fras1 related extracellular matrix 1 |
|
ISS |
OMIM:158170 |
MouseDO |
|
|
NCBI chr 5:101,018,009...101,166,794
Ensembl chr 5:101,020,448...101,166,651
|
|
G |
Washc1 |
WASH complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 9p deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:113,918,914...113,936,861
Ensembl chr 9:113,918,858...113,936,860
|
|
|
G |
Tert |
telomerase reverse transcriptase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12629597 |
|
NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
|
|
|
G |
Myo15a |
myosin XVA |
|
ISO |
ClinVar Annotator: match by term: Deafness, with smith-magenis syndrome |
ClinVar |
PMID:11735029 PMID:17546645 PMID:19274735 PMID:24033266 PMID:28492532 |
|
NCBI chr10:46,840,098...46,897,362
Ensembl chr10:46,840,113...46,896,054
|
|
|
G |
Aifm3 |
apoptosis inducing factor, mitochondria associated 3 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:87,364,452...87,380,705
Ensembl chr11:87,366,621...87,380,704
|
|
G |
Aldh1a2 |
aldehyde dehydrogenase 1 family, member A2 |
|
ISO ISS |
OMIM:188400 |
MouseDO |
PMID:12563036 |
RGD:734550 |
NCBI chr 8:77,640,234...77,719,488
Ensembl chr 8:77,640,222...77,719,489
|
|
G |
Arvcf |
ARVCF, delta catenin family member |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:25516202 PMID:28492532 PMID:32581362, PMID:9126485 |
RGD:1578806 |
NCBI chr11:86,736,125...86,793,795
Ensembl chr11:86,736,142...86,793,791
|
|
G |
Bcr |
BCR activator of RhoGEF and GTPase |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr20:14,421,250...14,546,406
Ensembl chr20:14,421,141...14,545,772
|
|
G |
Ccdc116 |
coiled-coil domain containing 116 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:88,092,794...88,100,220
Ensembl chr11:88,095,170...88,098,252
|
|
G |
Cdc45 |
cell division cycle 45 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 |
|
NCBI chr11:86,328,785...86,354,099
Ensembl chr11:86,329,012...86,358,453
|
|
G |
Chrd |
chordin |
|
ISS |
OMIM:188400 |
MouseDO |
|
|
NCBI chr11:83,858,503...83,867,543
Ensembl chr11:83,858,503...83,867,203
|
|
G |
Cldn5 |
claudin 5 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 |
|
NCBI chr11:86,356,292...86,357,718
Ensembl chr11:86,356,294...86,357,718
|
|
G |
Comt |
catechol-O-methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DiGeorge sequence |
CTD ClinVar |
PMID:8886163 PMID:25516202 PMID:28492532 PMID:32581362 |
|
NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
|
|
G |
Crkl |
CRK like proto-oncogene, adaptor protein |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DiGeorge sequence |
CTD ClinVar |
PMID:16399080 PMID:32581362 |
|
NCBI chr11:87,338,606...87,356,644
Ensembl chr11:87,778,312...87,815,043
|
|
G |
Dgcr2 |
DiGeorge syndrome critical region gene 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DiGeorge sequence |
CTD ClinVar |
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 |
|
NCBI chr11:87,242,441...87,290,806
Ensembl chr11:87,242,522...87,292,955
|
|
G |
Dgcr6 |
DiGeorge syndrome critical region gene 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DiGeorge sequence |
CTD ClinVar |
PMID:32581362 |
|
NCBI chr11:87,076,205...87,081,306
Ensembl chr11:87,076,381...87,081,950
|
|
G |
Dgcr8 |
DGCR8 microprocessor complex subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DiGeorge sequence |
CTD ClinVar |
PMID:32581362 |
|
NCBI chr11:86,852,682...86,885,233
Ensembl chr11:86,852,711...86,885,224
|
|
G |
Dicer1 |
dicer 1 ribonuclease III |
|
ISS |
OMIM:188400 |
MouseDO |
|
|
NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183
|
|
G |
Dock1 |
dedicator of cyto-kinesis 1 |
|
ISS |
OMIM:188400 |
MouseDO |
|
|
NCBI chr 1:206,900,617...207,414,852
Ensembl chr 1:206,900,617...207,414,843
|
|
G |
Dvl1 |
dishevelled segment polarity protein 1 |
|
ISO |
|
RGD |
PMID:8644734 |
RGD:1580898 |
NCBI chr 5:173,295,948...173,308,014
Ensembl chr 5:173,296,270...173,307,945
|
|
G |
Ess2 |
ess-2 splicing factor homolog |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DiGeorge sequence |
CTD ClinVar |
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 |
|
NCBI chr11:87,224,371...87,234,329
Ensembl chr11:87,224,421...87,233,326
|
|
G |
Fgf8 |
fibroblast growth factor 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16399080 |
|
NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
|
|
G |
Foxn1 |
forkhead box N1 |
|
ISS |
OMIM:188400 |
MouseDO |
|
|
NCBI chr10:65,621,142...65,634,666
Ensembl chr10:65,621,257...65,634,666
|
|
G |
Gnaz |
G protein subunit alpha z |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr20:14,593,072...14,644,020
Ensembl chr20:14,593,819...14,620,019
|
|
G |
Gnb1l |
G protein subunit beta 1 like |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:25516202 PMID:28492532 PMID:32581362 |
|
NCBI chr11:86,575,229...86,655,614
Ensembl chr11:86,577,339...86,655,602
|
|
G |
Gp1bb |
glycoprotein Ib platelet subunit beta |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 |
|
NCBI chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
|
|
G |
Gsc2 |
goosecoid homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 |
|
NCBI chr11:87,220,618...87,222,606
Ensembl chr11:87,220,618...87,222,606
|
|
G |
Hic2 |
HIC ZBTB transcriptional repressor 2 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:87,988,213...88,016,825
Ensembl chr11:87,988,213...88,016,825
|
|
G |
Hira |
histone cell cycle regulator |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 |
|
NCBI chr11:86,168,196...86,276,430
Ensembl chr11:86,168,196...86,276,430
|
|
G |
Hoxa3 |
homeobox A3 |
|
ISS |
OMIM:188400 |
MouseDO |
|
|
NCBI chr 4:82,137,802...82,181,836
Ensembl chr 4:82,138,683...82,141,385
|
|
G |
Igll1 |
immunoglobulin lambda-like polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:88,388,378...88,391,524
Ensembl chr11:88,388,378...88,391,370
|
|
G |
Kat6a |
lysine acetyltransferase 6A |
|
ISO ISS |
OMIM:188400 |
MouseDO |
PMID:22921202 |
RGD:9590333 |
NCBI chr16:73,942,669...74,020,750
Ensembl chr16:73,943,455...74,023,005
|
|
G |
Klhl22 |
kelch-like family member 22 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:87,646,489...87,718,808
Ensembl chr11:87,677,966...87,718,826
|
|
G |
LOC102548901 |
protein Bop-like |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:25516202 PMID:28492532 PMID:32581362 |
|
NCBI chr12:6,230,524...6,231,398
|
|
G |
LOC498122 |
similar to CG15908-PA |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 |
|
NCBI chr11:86,299,210...86,303,453
Ensembl chr11:86,299,210...86,303,453
|
|
G |
Lztr1 |
leucine-zipper-like transcription regulator 1 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:87,381,638...87,397,849
Ensembl chr11:87,381,899...87,397,498
|
|
G |
Mapk1 |
mitogen activated protein kinase 1 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
|
|
G |
Med15 |
mediator complex subunit 15 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:87,553,868...87,628,631
Ensembl chr11:87,553,868...87,628,502
|
|
G |
Mical3 |
microtubule associated monooxygenase, calponin and LIM domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr 4:153,484,876...153,631,986
Ensembl chr 4:153,484,876...153,593,773
|
|
G |
Mir130b |
microRNA 130b |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:88,129,773...88,129,854
Ensembl chr11:88,129,773...88,129,854
|
|
G |
Mrpl40 |
mitochondrial ribosomal protein L40 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 |
|
NCBI chr11:86,276,616...86,282,452
Ensembl chr11:86,276,616...86,282,451
|
|
G |
Ndst1 |
N-deacetylase and N-sulfotransferase 1 |
|
ISS |
OMIM:188400 |
MouseDO |
|
|
NCBI chr18:55,951,497...56,014,107
Ensembl chr18:55,955,389...55,992,885
|
|
G |
P2rx6 |
purinergic receptor P2X 6 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:87,434,929...87,445,221
Ensembl chr11:87,435,185...87,445,219
|
|
G |
Pex26 |
peroxisomal biogenesis factor 26 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
|
|
G |
Pi4ka |
phosphatidylinositol 4-kinase alpha |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:87,858,323...87,975,549
Ensembl chr11:87,858,453...87,973,422
|
|
G |
Plxnd1 |
plexin D1 |
|
ISS |
OMIM:188400 |
MouseDO |
|
|
NCBI chr 4:147,854,309...147,894,170
Ensembl chr 4:147,854,309...147,893,992
|
|
G |
Ppil2 |
peptidylprolyl isomerase like 2 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:88,147,342...88,169,968
Ensembl chr11:88,147,377...88,169,968
|
|
G |
Ppm1f |
protein phosphatase, Mg2+/Mn2+ dependent, 1F |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:88,313,709...88,343,726
Ensembl chr11:88,313,709...88,343,627
|
|
G |
Prame |
PRAME nuclear receptor transcriptional regulator |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr X:106,082,984...106,091,256
Ensembl chr X:106,083,203...106,085,878
|
|
G |
Prodh1 |
proline dehydrogenase 1 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 |
|
NCBI chr11:87,058,478...87,075,785
Ensembl chr11:87,058,616...87,075,785
|
|
G |
Rab36 |
RAB36, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr20:14,557,485...14,573,939
Ensembl chr20:14,557,740...14,573,519
|
|
G |
Ranbp1 |
RAN binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:86,890,585...86,898,818
Ensembl chr11:86,890,585...86,898,818
|
|
G |
Rimbp3 |
RIMS binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:88,033,213...88,039,002
Ensembl chr11:88,033,180...88,038,518
|
|
G |
Rsph14 |
radial spoke head 14 homolog |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr20:14,576,983...14,653,236
Ensembl chr20:14,577,166...14,653,038
|
|
G |
Rtn4r |
reticulon 4 receptor |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:86,992,665...87,017,091
Ensembl chr11:86,992,399...87,017,115
|
|
G |
Scarf2 |
scavenger receptor class F, member 2 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:87,722,350...87,733,734
Ensembl chr11:87,722,350...87,733,734
|
|
G |
Sdf2l1 |
stromal cell-derived factor 2-like 1 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:88,122,271...88,124,513
Ensembl chr11:88,122,271...88,124,513
|
|
G |
Septin5 |
septin 5 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 |
|
NCBI chr11:86,516,377...86,522,169
Ensembl chr11:86,512,797...86,522,168
|
|
G |
Serpind1 |
serpin family D member 1 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:87,913,814...87,924,880
Ensembl chr11:87,913,806...87,924,816
|
|
G |
Slc25a1 |
solute carrier family 25 member 1 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 |
|
NCBI chr11:87,204,248...87,207,265
Ensembl chr11:87,204,175...87,207,264
|
|
G |
Slc7a4 |
solute carrier family 7, member 4 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:87,445,585...87,450,008
Ensembl chr11:87,446,382...87,449,940
|
|
G |
Snap29 |
synaptosome associated protein 29 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:87,827,633...87,858,107
Ensembl chr11:87,827,651...87,858,107
|
|
G |
Tango2 |
transport and golgi organization 2 homolog |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:86,793,959...86,840,556
Ensembl chr11:86,797,557...86,840,573
|
|
G |
Tbx1 |
T-box transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence ClinVar Annotator: match by term: Catch22 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:11748311 PMID:14585638 PMID:15060116 PMID:15190012 PMID:15355425 PMID:16399080 PMID:17000704 PMID:18375573 PMID:19948535 PMID:21921585 PMID:24826987 PMID:24998776 PMID:25205790 PMID:25516202 PMID:25741868 PMID:26467025 PMID:27879657 PMID:28272434 PMID:28492532 PMID:30007050 PMID:32581362 |
|
NCBI chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969
|
|
G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
|
ISS |
OMIM:188400 |
MouseDO |
|
|
NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
|
|
G |
Thap7 |
THAP domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:87,399,430...87,403,381
Ensembl chr11:87,399,483...87,403,367
|
|
G |
Tmem191c |
transmembrane protein 191C |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:87,975,508...87,982,861
Ensembl chr11:87,975,527...87,977,368
|
|
G |
Top3b |
DNA topoisomerase III beta |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:88,346,305...88,374,896
Ensembl chr11:88,346,313...88,374,679
|
|
G |
Trmt2a |
tRNA methyltransferase 2 homolog A |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:86,885,671...86,890,482
Ensembl chr11:86,885,626...86,890,390
|
|
G |
Tssk2 |
testis-specific serine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 |
|
NCBI chr11:87,235,058...87,236,413
Ensembl chr11:87,221,613...87,236,445
|
|
G |
Tuba8 |
tubulin, alpha 8 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr 4:153,774,511...153,791,223
Ensembl chr 4:153,774,486...153,791,328
|
|
G |
Txnrd2 |
thioredoxin reductase 2 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:25516202 PMID:28492532 PMID:32581362 |
|
NCBI chr11:86,667,994...86,716,063
Ensembl chr11:86,667,997...86,716,254
|
|
G |
Ube2l3 |
ubiquitin-conjugating enzyme E2L 3 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:88,047,186...88,088,477
Ensembl chr11:88,047,832...88,088,476
|
|
G |
Ufd1 |
ubiquitin recognition factor in ER associated degradation 1 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362, PMID:10024240 |
RGD:1580803 |
NCBI chr11:86,304,836...86,328,478
Ensembl chr11:86,304,815...86,328,469
|
|
G |
Usp18 |
ubiquitin specific peptidase 18 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr 4:153,812,312...153,834,374
Ensembl chr 4:153,805,993...153,834,430
|
|
G |
Vegfa |
vascular endothelial growth factor A |
|
ISS |
OMIM:188400 |
MouseDO |
|
|
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
|
|
G |
Vpreb1 |
V-set pre-B cell surrogate light chain 1 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:88,376,256...88,377,133
Ensembl chr11:88,376,256...88,377,133
|
|
G |
Ydjc |
YdjC chitooligosaccharide deacetylase homolog |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:88,089,142...88,094,254
Ensembl chr11:88,090,921...88,093,516
|
|
G |
Ypel1 |
yippee-like 1 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:88,171,401...88,186,000
Ensembl chr11:88,173,890...88,180,542
|
|
G |
Zdhhc8 |
zinc finger DHHC-type palmitoyltransferase 8 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr11:86,903,122...86,917,261
Ensembl chr11:86,903,122...86,915,715
|
|
G |
Zfp280b |
zinc finger protein 280B |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr20:13,566,381...13,581,215
Ensembl chr20:13,567,803...13,581,164
|
|
G |
Zfp366 |
zinc finger protein 366 |
|
ISS |
OMIM:188400 |
MouseDO |
|
|
NCBI chr 2:29,410,169...29,498,661
Ensembl chr 2:29,410,579...29,498,664
|
|
G |
Zim1 |
zinc finger, imprinted 1 |
|
ISO |
ClinVar Annotator: match by term: DiGeorge sequence |
ClinVar |
PMID:32581362 |
|
NCBI chr 1:70,244,828...70,268,289
Ensembl chr 1:70,253,650...70,266,809
|
|
|
G |
Abca5 |
ATP binding cassette subfamily A member 5 |
|
ISO |
ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis |
ClinVar OMIM |
PMID:24831815 PMID:25741868 |
|
NCBI chr10:98,573,226...98,645,028
Ensembl chr10:98,576,039...98,644,938
|
|
|
G |
Usp7 |
ubiquitin specific peptidase 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p13.2 deletion syndrome |
ClinVar OMIM |
PMID:26365382 PMID:30679821 |
|
NCBI chr10:6,930,462...7,019,910
Ensembl chr10:6,975,244...7,018,930
|
|
|
G |
Epcam |
epithelial cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer type 8 ClinVar Annotator: match by OMIM:613244 |
OMIM ClinVar |
PMID:16951683 PMID:19098912 PMID:25741868 PMID:28492532 |
|
NCBI chr 6:11,282,194...11,308,870
Ensembl chr 6:11,281,964...11,298,216
|
|
|
G |
Acbd7 |
acyl-CoA binding domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:78,904,549...78,913,372
Ensembl chr17:78,904,873...78,910,671
|
|
G |
Akr1c1 |
aldo-keto reductase family 1, member C1 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:69,441,253...69,460,334
Ensembl chr17:69,441,223...69,460,321
|
|
G |
Akr1c2 |
aldo-keto reductase family 1, member C2 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:69,388,337...69,435,160
Ensembl chr17:69,388,335...69,404,341
|
|
G |
Akr1c3 |
aldo-keto reductase family 1, member C3 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:69,761,126...69,778,021
Ensembl chr17:69,761,118...69,778,021
|
|
G |
Akr1e2 |
aldo-keto reductase family 1, member E2 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:69,365,437...69,379,944
Ensembl chr17:69,365,453...69,379,947
|
|
G |
Ankrd16 |
ankyrin repeat domain 16 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:70,384,883...70,398,089
Ensembl chr17:70,386,707...70,398,769
|
|
G |
Arl5b |
ADP-ribosylation factor like GTPase 5B |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:82,065,893...82,092,693
Ensembl chr17:82,065,937...82,091,362
|
|
G |
Asb13 |
ankyrin repeat and SOCS box-containing 13 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:70,215,401...70,234,103
Ensembl chr17:70,215,401...70,234,103
|
|
G |
Atp5f1c |
ATP synthase F1 subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:72,209,321...72,231,562
Ensembl chr17:72,209,373...72,394,271
|
|
G |
Bend7 |
BEN domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:77,448,430...77,527,888
Ensembl chr17:77,448,430...77,527,894
|
|
G |
C1ql3 |
complement C1q like 3 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:80,314,186...80,320,681
Ensembl chr17:80,314,186...80,320,681
|
|
G |
Cacnb2 |
calcium voltage-gated channel auxiliary subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:81,673,862...82,019,219
Ensembl chr17:81,798,756...82,017,682
|
|
G |
Calml3 |
calmodulin-like 3 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:70,070,458...70,073,697
Ensembl chr17:70,072,156...70,073,530
|
|
G |
Calml5 |
calmodulin-like 5 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:70,044,956...70,045,886
|
|
G |
Camk1d |
calcium/calmodulin-dependent protein kinase ID |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:76,532,611...76,938,956
Ensembl chr17:76,532,611...76,938,956
|
|
G |
Ccdc3 |
coiled-coil domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:76,991,722...77,093,515
Ensembl chr17:76,995,043...77,093,308
|
|
G |
Cdc123 |
cell division cycle 123 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:76,410,629...76,454,275
Ensembl chr17:76,410,585...76,454,282
|
|
G |
Cdnf |
cerebral dopamine neurotrophic factor |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:78,721,230...78,735,324
Ensembl chr17:78,719,111...78,735,324
|
|
G |
Celf2 |
CUGBP, Elav-like family member 2 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:75,259,269...75,660,154
Ensembl chr17:75,352,389...75,654,951
|
|
G |
Cubn |
cubilin |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:80,584,921...80,807,181
Ensembl chr17:80,584,878...80,807,243
|
|
G |
Dclre1c |
DNA cross-link repair 1C |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:78,782,512...78,812,140
Ensembl chr17:78,783,437...78,812,111
|
|
G |
Dhtkd1 |
dehydrogenase E1 and transketolase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:76,306,585...76,358,058
Ensembl chr17:76,306,585...76,358,058
|
|
G |
Echdc3 |
enoyl CoA hydratase domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:76,002,304...76,022,813
Ensembl chr17:76,002,275...76,022,813
|
|
G |
Fam107b |
family with sequence similarity 107, member B |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:78,489,667...78,689,933
Ensembl chr17:78,489,668...78,561,613
|
|
G |
Fam171a1 |
family with sequence similarity 171, member A1 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:79,030,150...79,149,480
Ensembl chr17:79,031,423...79,085,076
|
|
G |
Fbh1 |
F-box DNA helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:70,399,093...70,437,151
Ensembl chr17:70,399,049...70,437,144
|
|
G |
Frmd4a |
FERM domain containing 4A |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:77,642,302...77,918,210
|
|
G |
Gata3 |
GATA binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism-deafness-renal disease syndrome ClinVar Annotator: match by term: Barakat syndrome ClinVar Annotator: match by OMIM:146255 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by null |
OMIM ClinVar CTD |
PMID:10935639 PMID:11389161 PMID:15705923 PMID:16912130 PMID:17309062 PMID:18621058 PMID:19248180 PMID:19253381 PMID:20006695 PMID:21834031 PMID:23142663 PMID:23435732 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30143558 |
|
NCBI chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681
|
|
G |
Gdi2 |
GDP dissociation inhibitor 2 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:70,299,177...70,325,864
Ensembl chr17:70,299,183...70,325,855
|
|
G |
Hacd1 |
3-hydroxyacyl-CoA dehydratase 1 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:81,173,238...81,196,012
Ensembl chr17:81,173,713...81,187,739
|
|
G |
Il15ra |
interleukin 15 receptor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:70,451,861...70,481,838
Ensembl chr17:70,451,411...70,481,750
|
|
G |
Il2ra |
interleukin 2 receptor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
|
|
G |
Itga8 |
integrin subunit alpha 8 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:79,321,893...79,676,927
Ensembl chr17:79,321,900...79,676,499
|
|
G |
Itih2 |
inter-alpha-trypsin inhibitor heavy chain 2 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:72,160,734...72,197,248
Ensembl chr17:72,160,735...72,195,509
|
|
G |
Itih5 |
inter-alpha-trypsin inhibitor heavy chain 5 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism-deafness-renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:72,035,799...72,055,809 NCBI chr17:72,108,870...72,137,419
|
|
G |
Kin |
Kin17 DNA and RNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:72,198,882...72,216,780
Ensembl chr17:72,198,866...72,209,279
|
|
G |
Mcm10 |
minichromosome maintenance 10 replication initiation factor |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:77,224,218...77,245,486
Ensembl chr17:77,224,112...77,246,478
|
|
G |
Meig1 |
meiosis/spermiogenesis associated 1 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:78,813,656...78,829,411
Ensembl chr17:78,817,529...78,829,411
|
|
G |
Mindy3 |
MINDY lysine 48 deubiquitinase 3 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:79,720,534...79,798,470
Ensembl chr17:79,720,535...79,798,435
|
|
G |
Net1 |
neuroepithelial cell transforming 1 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:69,991,786...70,020,977
Ensembl chr17:70,010,794...70,020,982
|
|
G |
Nmt2 |
N-myristoyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:78,919,235...78,966,013
Ensembl chr17:78,921,793...78,962,476
|
|
G |
Nsun6 |
NOP2/Sun RNA methyltransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:82,020,316...82,060,533
Ensembl chr17:82,022,490...82,060,123
|
|
G |
Nudt5 |
nudix hydrolase 5 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:76,387,027...76,410,309
Ensembl chr17:76,387,031...76,410,294
|
|
G |
Olah |
oleoyl-ACP hydrolase |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:78,878,673...78,903,919
Ensembl chr17:78,879,058...78,903,967
|
|
G |
Optn |
optineurin |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
|
|
G |
Pfkfb3 |
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:70,632,778...70,713,736
Ensembl chr17:70,684,134...70,713,726
|
|
G |
Phyh |
phytanoyl-CoA 2-hydroxylase |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
|
|
G |
Prkcq |
protein kinase C, theta |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:70,971,915...71,105,286
Ensembl chr17:70,971,915...71,105,286
|
|
G |
Proser2 |
proline and serine rich 2 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:76,079,641...76,140,428
Ensembl chr17:76,079,720...76,137,697
|
|
G |
Prpf18 |
pre-mRNA processing factor 18 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:77,601,914...77,632,507
Ensembl chr17:77,601,877...77,663,980
|
|
G |
Pter |
phosphotriesterase related |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:80,250,444...80,311,987
Ensembl chr17:80,250,521...80,311,981
|
|
G |
Rbm17 |
RNA binding motif protein 17 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:70,586,345...70,603,289
Ensembl chr17:70,586,394...70,603,267
|
|
G |
Rpp38 |
ribonuclease P/MRP subunit p38 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:78,915,450...78,919,144
Ensembl chr17:78,915,604...78,919,143
|
|
G |
Rsu1 |
Ras suppressor protein 1 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:80,388,477...80,577,338
Ensembl chr17:80,389,157...80,577,027
|
|
G |
Sec61a2 |
SEC61 translocon subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Barakat syndrome |
ClinVar |
| |