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Alg2 |
ALG2, alpha-1,3/1,6-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I | ClinVar Annotator: match by term: Congenital disorder of glycosylation type II |
OMIM ClinVar |
PMID:12684507 PMID:20813212 PMID:25741868 PMID:28492532 PMID:30061496 PMID:33644825 More...
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NCBI chr 5:61,768,738...61,773,297
Ensembl chr 5:61,768,740...61,773,297
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Anks6 |
ankyrin repeat and sterile alpha motif domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596
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G |
Anp32b |
acidic nuclear phosphoprotein 32 family member B |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,743,077...60,765,726
Ensembl chr 5:60,743,443...60,765,717
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Ccdc115 |
coiled-coil domain containing 115 |
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ISO |
ClinVar Annotator: match by term: Congenital disorders of glycosylation type II |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26833332 PMID:28492532 PMID:29759592 PMID:33413482 More...
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NCBI chr 9:36,650,384...36,654,348
Ensembl chr 9:36,649,271...36,653,946
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G |
Col15a1 |
collagen type XV alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:61,501,963...61,607,591
Ensembl chr 5:61,501,963...61,607,591
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G |
Coro2a |
coronin 2A |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,825,630...60,881,917
Ensembl chr 5:60,828,247...60,859,035
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G |
Dicer1 |
dicer 1 ribonuclease III |
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ISO |
ClinVar Annotator: match by term: Congenital disorders of glycosylation type II |
ClinVar |
PMID:19556464 PMID:25741868 PMID:26833330 PMID:26925222 PMID:30339877 |
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NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
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G |
Erp44 |
endoplasmic reticulum protein 44 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:62,516,550...62,610,762
Ensembl chr 5:62,516,551...62,610,761
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G |
Foxe1 |
forkhead box E1 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835
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G |
Gabbr2 |
gamma-aminobutyric acid type B receptor subunit 2 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,947,517...61,288,104
Ensembl chr 5:60,947,526...61,288,104
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G |
Galnt12 |
polypeptide N-acetylgalactosaminyltransferase 12 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:61,384,575...61,413,346
Ensembl chr 5:61,384,571...61,413,354
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G |
Hemgn |
hemogen |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,679,633...60,698,597
Ensembl chr 5:60,679,633...60,698,669
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G |
Invs |
inversin |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:62,610,968...62,763,350
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Nans |
N-acetylneuraminate synthase |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,780,441...60,797,583
Ensembl chr 5:60,780,392...60,814,950
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G |
Ncbp1 |
nuclear cap binding protein subunit 1 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,416,023...60,449,004
Ensembl chr 5:60,415,982...60,449,089
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Nr4a3 |
nuclear receptor subfamily 4, group A, member 3 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:62,361,588...62,401,489
Ensembl chr 5:62,361,822...62,402,733
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Sec61b |
SEC61 translocon subunit beta |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:61,773,594...61,781,804
Ensembl chr 5:61,773,594...61,781,804
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Stx17 |
syntaxin 17 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:62,446,138...62,506,108
Ensembl chr 5:62,446,187...62,504,451
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Tbc1d2 |
TBC1 domain family, member 2 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,884,114...60,931,717
Ensembl chr 5:60,884,124...60,931,352
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Tdrd7 |
tudor domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,238,742...60,312,548
Ensembl chr 5:60,238,678...60,312,544
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G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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G |
Tmem199 |
transmembrane protein 199 |
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ISO |
ClinVar Annotator: match by term: Congenital disorders of glycosylation type II |
ClinVar |
PMID:25741868 PMID:26833330 PMID:28492532 PMID:29321044 |
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NCBI chr10:63,402,493...63,407,065
Ensembl chr10:63,402,494...63,407,108
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Tmod1 |
tropomodulin 1 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,316,445...60,393,957
Ensembl chr 5:60,338,512...60,393,956
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Trim14 |
tripartite motif-containing 14 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,800,568...60,824,858
Ensembl chr 5:60,800,032...60,824,858
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G |
Trmo |
tRNA methyltransferase O |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,663,106...60,676,423
Ensembl chr 5:60,667,864...60,676,423
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G |
Tstd2 |
thiosulfate sulfurtransferase like domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,371,751...60,415,916
Ensembl chr 5:60,393,454...60,415,916
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G |
Xpa |
XPA, DNA damage recognition and repair factor |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I |
ClinVar |
PMID:20813212 PMID:28492532 |
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NCBI chr 5:60,431,673...60,475,726
Ensembl chr 5:60,431,673...60,475,726
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