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G |
Acap3 |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,783,382...171,797,709
Ensembl chr 5:166,500,781...166,515,481
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G |
Actrt2 |
actin-related protein T2 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,518,470...170,519,870
Ensembl chr 5:165,236,086...165,237,629
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G |
Agrn |
agrin |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:172,031,528...172,064,429
Ensembl chr 5:166,749,310...166,786,003
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G |
Ankrd65 |
ankyrin repeat domain 65 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,680,597...171,682,854
Ensembl chr 5:166,397,748...166,400,953
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G |
Arhgef16 |
Rho guanine nucleotide exchange factor 16 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,126,573...170,148,624
Ensembl chr 5:164,844,161...164,866,212
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G |
Atad3a |
ATPase family, AAA domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,632,545...171,652,725
Ensembl chr 5:166,350,304...166,370,482
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|
G |
B3galt6 |
Beta-1,3-galactosyltransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,866,428...171,868,564
Ensembl chr 5:166,584,202...166,586,338
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|
G |
C1qtnf12 |
C1q and TNF related 12 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,833,854...171,838,229
Ensembl chr 5:166,551,628...166,556,003
|
|
G |
C5h1orf159 |
similar to human chromosome 1 open reading frame 159 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:171,983,700...172,001,373
Ensembl chr 5:166,701,676...166,719,955
|
|
G |
Ccdc27 |
coiled-coil domain containing 27 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:169,867,706...169,881,820
Ensembl chr 5:164,585,267...164,599,355
|
|
G |
Ccnl2 |
cyclin L2 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,698,951...171,711,037
Ensembl chr 5:166,417,508...166,436,882
|
|
G |
Cdk11b |
cyclin-dependent kinase 11B |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,495,042...171,521,143
Ensembl chr 5:166,212,829...166,238,876
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|
G |
Cep104 |
centrosomal protein 104 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:169,817,383...169,849,681
Ensembl chr 5:164,534,782...164,567,248
|
|
G |
Cfap74 |
cilia and flagella associated protein 74 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,252,907...171,328,351
Ensembl chr 5:165,979,805...166,046,071
|
|
G |
Cptp |
ceramide-1-phosphate transfer protein |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,757,181...171,761,271
Ensembl chr 5:166,474,966...166,479,017
|
|
G |
Dvl1 |
dishevelled segment polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,738,911...171,750,967
Ensembl chr 5:166,456,686...166,468,664
|
|
G |
Faap20 |
FA core complex associated protein 20 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,083,328...171,097,599
Ensembl chr 5:165,808,657...165,815,333
|
|
G |
Fndc10 |
fibronectin type III domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,581,960...171,584,519
Ensembl chr 5:166,300,122...166,310,326
|
|
G |
Gabrd |
gamma-aminobutyric acid type A receptor subunit delta |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,240,813...171,252,709
Ensembl chr 5:165,958,484...165,970,411
|
|
G |
Gnb1 |
G protein subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,357,778...171,424,489
Ensembl chr 5:166,075,629...166,142,124
|
|
G |
Hes5 |
hes family bHLH transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,804,511...170,807,988
Ensembl chr 5:165,522,234...165,523,001
|
|
G |
Ints11 |
integrator complex subunit 11 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,761,370...171,779,883
Ensembl chr 5:166,479,155...166,497,651
|
|
G |
Kifbp |
kinesin family binding protein |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome OMIM:609460 |
CTD ClinVar MouseDO OMIM |
PMID:15883926 PMID:18414213 PMID:23427148 PMID:24072599 PMID:24901346 PMID:25741868 PMID:26467025 PMID:28277559 PMID:28492532 PMID:32939943 PMID:39033378 More...
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|
NCBI chr20:30,512,899...30,532,504
Ensembl chr20:30,512,901...30,532,476
|
|
G |
Lrrc47 |
leucine rich repeat containing 47 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:169,852,926...169,862,598
Ensembl chr 5:164,570,435...164,580,174
|
|
G |
Megf6 |
multiple EGF-like-domains 6 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,020,699...170,121,557
Ensembl chr 5:164,738,352...164,839,139
|
|
G |
Mib2 |
MIB E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,526,037...171,542,479
Ensembl chr 5:166,243,776...166,259,650
|
|
G |
Mir200a |
microRNA 200a |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:171,930,717...171,930,805
|
|
G |
Mir200b |
microRNA 200b |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:171,931,495...171,931,589
Ensembl chr 5:166,649,272...166,649,366
|
|
G |
Mir429 |
microRNA 429 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:171,929,682...171,929,766
Ensembl chr 5:166,647,459...166,647,543
|
|
G |
Mmel1 |
membrane metallo-endopeptidase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,713,602...170,744,058
Ensembl chr 5:165,431,343...165,461,716
|
|
G |
Mmp23 |
matrix metallopeptidase 23 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,521,905...171,525,007
Ensembl chr 5:166,239,644...166,242,433
|
|
G |
Morn1 |
MORN repeat containing 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,928,086...170,987,219
Ensembl chr 5:165,646,991...165,704,892
|
|
G |
Mrpl20 |
mitochondrial ribosomal protein L20 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,690,664...171,695,728
Ensembl chr 5:166,408,962...166,413,492
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|
G |
Mxra8 |
matrix remodeling associated 8 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,731,153...171,735,879
Ensembl chr 5:166,449,154...166,453,636
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|
G |
Nadk |
NAD kinase |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,427,973...171,458,586
Ensembl chr 5:166,145,481...166,176,322
|
|
G |
Nek9 |
NIMA-related kinase 9 |
|
ISO |
ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:110,675,107...110,715,586
Ensembl chr 6:104,944,056...104,984,538
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|
G |
Pank4 |
pantothenate kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,807,744...170,824,478
Ensembl chr 5:165,525,402...165,542,135
|
|
G |
Pex10 |
peroxisomal biogenesis factor 10 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,910,136...170,915,302
Ensembl chr 5:165,627,799...165,632,965
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|
G |
Plch2 |
phospholipase C, eta 2 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,826,543...170,885,012
Ensembl chr 5:165,544,200...165,602,356
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|
G |
Prdm16 |
PR/SET domain 16 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,162,275...170,486,371
Ensembl chr 5:164,880,587...165,203,601
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|
G |
Prkcz |
protein kinase C, zeta |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,101,774...171,212,694
Ensembl chr 5:165,819,466...165,930,367
|
|
G |
Prxl2b |
peroxiredoxin like 2B |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,744,953...170,747,556
|
|
G |
Pusl1 |
pseudouridine synthase like 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,773,284...171,782,893
Ensembl chr 5:166,496,755...166,500,611
|
|
G |
Rer1 |
retention in endoplasmic reticulum sorting receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,916,643...170,929,073
Ensembl chr 5:165,634,300...165,646,750
|
|
G |
Rnf223 |
ring finger protein 223 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:172,005,566...172,008,456
Ensembl chr 5:166,724,984...166,725,751
|
|
G |
Sdf4 |
stromal cell derived factor 4 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,868,591...171,885,827
Ensembl chr 5:166,586,390...166,604,521
|
|
G |
Ski |
Ski proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:7977351 PMID:8449506 PMID:8981946 PMID:9536098 PMID:15979919 PMID:16199547 PMID:16327884 PMID:17576681 PMID:19112531 PMID:19114989 PMID:20635359 PMID:21699693 PMID:23023332 PMID:23103230 PMID:23892090 PMID:24033266 PMID:24357594 PMID:24736733 PMID:25326635 PMID:25326637 PMID:25741868 PMID:27146836 PMID:28252636 PMID:28492532 PMID:28667723 PMID:28750028 PMID:28757364 PMID:28857439 PMID:29168297 PMID:29543232 PMID:31322791 PMID:31602316 PMID:31754721 PMID:31980905 PMID:32123317 PMID:33416497 PMID:33436942 PMID:33824467 PMID:38177409 More...
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NCBI chr 5:170,995,851...171,064,957
Ensembl chr 5:165,714,093...165,782,733
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G |
Slc35e2b |
solute carrier family 35, member E2B |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,465,222...171,493,317
Ensembl chr 5:166,185,166...166,207,021
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|
G |
Smim1 |
small integral membrane protein 1 (Vel blood group) |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:169,861,751...169,867,070
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G |
Ssu72 |
SSU72 homolog, RNA polymerase II CTD phosphatase |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,595,919...171,625,675
Ensembl chr 5:166,313,650...166,343,429
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|
G |
Tas1r3 |
taste 1 receptor member 3 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,750,937...171,754,993
Ensembl chr 5:166,469,589...166,472,742
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G |
Tmem240 |
transmembrane protein 240 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,625,830...171,653,836
Ensembl chr 5:166,344,386...166,350,636
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|
G |
Tmem52 |
transmembrane protein 52 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,330,948...171,332,704
Ensembl chr 5:166,046,565...166,050,433
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|
G |
Tmem88b |
transmembrane protein 88B |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,673,319...171,676,143
Ensembl chr 5:166,391,080...166,393,904
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|
G |
Tnfrsf14 |
TNF receptor superfamily member 14 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,768,413...170,776,749
Ensembl chr 5:165,484,262...165,493,703
|
|
G |
Tnfrsf18 |
TNF receptor superfamily member 18 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:171,901,734...171,904,578
Ensembl chr 5:166,618,969...166,622,353
|
|
G |
Tnfrsf4 |
TNF receptor superfamily member 4 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,889,134...171,891,824
Ensembl chr 5:166,606,909...166,609,599
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G |
Tp73 |
tumor protein p73 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:164,621,377...164,681,128
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|
G |
Tprg1l |
tumor protein p63 regulated 1-like |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,004,577...170,007,784
Ensembl chr 5:164,710,285...164,725,425
|
|
G |
Ttc34 |
tetratricopeptide repeat domain 34 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,693,410...170,711,215
Ensembl chr 5:165,411,058...165,428,857
|
|
G |
Ttll10 |
tubulin tyrosine ligase like 10 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:171,912,371...171,937,733
Ensembl chr 5:166,630,152...166,653,707
|
|
G |
Ube2j2 |
ubiquitin-conjugating enzyme E2, J2 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,815,607...171,830,037
Ensembl chr 5:166,533,418...166,547,804
|
|
G |
Vwa1 |
von Willebrand factor A domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,659,694...171,664,880
Ensembl chr 5:166,377,455...166,382,637
|
|
G |
Wrap73 |
WD repeat containing, antisense to TP73 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:169,988,538...170,004,071
Ensembl chr 5:164,706,163...164,721,643
|
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