|
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 5:166,501,150...166,515,477
Ensembl chr 5:166,500,781...166,515,481
|
|
G
|
Actrt2
|
actin-related protein T2
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
|
|
G
|
Agrn
|
agrin
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,749,306...166,782,212
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 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953
|
|
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 5:164,843,656...164,866,212
Ensembl chr 5:164,844,161...164,866,212
|
|
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 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
|
|
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 5:166,551,628...166,556,003
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 5:166,701,485...166,719,939
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 5:164,585,285...164,599,391
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 5:166,416,940...166,428,997
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 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
|
|
G
|
Cep104
|
centrosomal protein 104
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:164,534,773...164,567,260
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 5:165,970,611...166,046,068
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 5:166,474,947...166,479,103
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 5:165,808,370...165,815,291
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 5:165,958,508...165,970,407
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 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651
|
|
G
|
Kifbp
|
kinesin family binding protein
|
|
ISO
|
ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
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 5:164,570,539...164,580,174
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 5:164,738,272...164,839,142
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 5:166,243,776...166,259,944
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 5:166,648,494...166,648,582
|
|
G
|
Mir200b
|
microRNA 200b
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,649,272...166,649,366
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 5:166,647,459...166,647,543
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 5:165,431,278...165,461,716
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 5:166,239,643...166,242,734
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 5:165,646,817...165,704,892
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 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492
|
|
G
|
Mxra8
|
matrix remodeling associated 8
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636
|
|
G
|
Nadk
|
NAD kinase
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,145,708...166,176,328
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 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538
|
|
G
|
Pank4
|
pantothenate kinase 4
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:165,525,340...165,542,139
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 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
|
|
G
|
Plch2
|
phospholipase C, eta 2
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356
|
|
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
|
|
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 5:166,497,643...166,500,647
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 5:165,634,567...165,646,643
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 5:166,723,346...166,726,236
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 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521
|
|
G
|
Ski
|
Ski proto-oncogene
|
|
ISO
|
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
OMIM CTD ClinVar |
PMID:7977351 PMID:8449506 PMID:8981946 PMID:9536098 PMID:15979919 PMID:16199547 PMID:16327884 PMID:17576681 PMID:19112531 PMID:19114989 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
|
|
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 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021
|
|
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 5:164,579,327...164,584,650
|
|
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 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429
|
|
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 5:166,468,703...166,472,759
Ensembl chr 5:166,469,589...166,472,742
|
|
G
|
Tmem240
|
transmembrane protein 240
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636
|
|
G
|
Tmem278
|
transmembrane protein 278
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904
|
|
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
|
|
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 5:165,486,069...165,494,421
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 5:166,618,461...166,622,353
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 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
|
|
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
|
|
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 5:164,722,151...164,725,358
Ensembl chr 5:164,710,285...164,725,425
|
|
G
|
Ttc34
|
tetratricopeptide repeat domain 34
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857
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G
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Ttll10
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tubulin tyrosine ligase like 10
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707
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G
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Ube2j2
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ubiquitin-conjugating enzyme E2, J2
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,815,607...171,830,037
Ensembl chr 5:166,533,418...166,547,804
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G
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Vwa1
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von Willebrand factor A domain containing 1
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637
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G
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Wrap73
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WD repeat containing, antisense to TP73
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:164,706,112...164,721,645
Ensembl chr 5:164,706,163...164,721,643
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