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G |
Pmm2 |
phosphomannomutase 2 |
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ISS |
OMIM:212065 | OMIM:300884 | OMIM:300934 | OMIM:601110 | OMIM:602579 | OMIM:603147 | OMIM:607143 | OMIM:607906 | OMIM:608093 | OMIM:608104 | OMIM:608540 | OMIM:608776 | OMIM:608799 | OMIM:609180 | OMIM:610768 | OMIM:612015 | OMIM:612379 | OMIM:612937 | OMIM:613661 | OMIM:614507 | OMIM:614921 | OMIM:615042 | OMIM:615596 | OMIM:615597 | OMIM:616457 |
MouseDO |
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NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443
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G |
Abat |
4-aminobutyrate aminotransferase |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
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G |
Igf1 |
insulin-like growth factor 1 |
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ISO |
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RGD |
PMID:19207313 |
RGD:12910858 |
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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G |
Igf2 |
insulin-like growth factor 2 |
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ISO |
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RGD |
PMID:19207313 |
RGD:12910858 |
NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
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G |
Igfals |
insulin-like growth factor binding protein, acid labile subunit |
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ISO |
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RGD |
PMID:19207313 |
RGD:12910858 |
NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
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G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
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ISO |
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RGD |
PMID:19207313 |
RGD:12910858 |
NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
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G |
Pmm2 |
phosphomannomutase 2 |
|
ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ia ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1A CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:212065 |
OMIM ClinVar CTD |
PMID:9140401 PMID:9497260 PMID:9710598 PMID:9781039 PMID:10066032 PMID:10386614 PMID:10527672 PMID:10571009 PMID:10571956 PMID:10602363 PMID:10801058 PMID:10854097 PMID:10922383 PMID:11058895 PMID:11058896 PMID:11134235 PMID:11148191 PMID:11156536 PMID:11409861 PMID:11517108 PMID:11589167 PMID:11715002 PMID:11875054 PMID:11891694 PMID:11916319 PMID:12297897 PMID:12357336 PMID:12529711 PMID:12607543 PMID:12626389 PMID:12705494 PMID:12905014 PMID:13129599 PMID:15272470 PMID:15277997 PMID:15520415 PMID:15645285 PMID:15714316 PMID:15844218 PMID:16085795 PMID:16376131 PMID:16435227 PMID:16540464 PMID:16825284 PMID:16941129 PMID:17158594 PMID:17166182 PMID:17186415 PMID:17307006 PMID:17308246 PMID:17920054 PMID:18093857 PMID:18203160 PMID:18485644 PMID:18571450 PMID:18629883 PMID:18948042 PMID:19101518 PMID:19165618 PMID:19168813 PMID:19235233 PMID:19357119 PMID:19396570 PMID:19862844 PMID:20301289 PMID:20638314 PMID:21228398 PMID:21539312 PMID:21541725 PMID:21937992 PMID:21949237 PMID:22012410 PMID:22223895 PMID:22649348 PMID:22801829 PMID:22814378 PMID:23045520 PMID:23430838 PMID:23430905 PMID:23430927 PMID:23806237 PMID:23988505 PMID:24033266 PMID:24037084 PMID:24139637 PMID:24498599 PMID:24739649 PMID:25167861 PMID:25326635 PMID:25355454 PMID:25497157 PMID:25525159 PMID:25681648 PMID:25741868 PMID:26014514 PMID:26206375 PMID:26488408 PMID:26502900 PMID:26629787 PMID:26805780 PMID:26887550 PMID:27053713 PMID:27415628 PMID:28122681 PMID:28139241 PMID:28373276 PMID:28425223 PMID:28454995 PMID:28492532 PMID:28566178 PMID:28807751 PMID:28820871 PMID:28915903 PMID:28940310 PMID:29361989 PMID:29470411 PMID:30061496 PMID:30687093 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 |
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NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443
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G |
Tmem186 |
transmembrane protein 186 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr10:7,077,488...7,080,806
Ensembl chr10:7,077,488...7,080,798
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G |
Nus1 |
NUS1 dehydrodolichyl diphosphate synthase subunit |
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ISO |
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 1aa ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Iaa |
ClinVar OMIM |
PMID:25066056 PMID:25741868 PMID:28492532 |
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NCBI chr20:33,557,052...33,584,011
Ensembl chr20:33,557,052...33,584,010
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G |
Mpi |
mannose phosphate isomerase |
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ISO |
ClinVar Annotator: match by term: Saguenay Lac Saint Jean syndrome ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1B ClinVar Annotator: match by OMIM:602579 ClinVar Annotator: match by null |
OMIM ClinVar |
PMID:3080572 PMID:9525984 PMID:9585601 PMID:10484808 PMID:10980531 PMID:11350186 PMID:12414827 PMID:18928705 PMID:19862844 PMID:24033266 PMID:24421398 PMID:24508628 PMID:25741868 PMID:26206375 PMID:28492532 PMID:28928705 PMID:30545931 |
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NCBI chr 8:62,324,176...62,332,080
Ensembl chr 8:62,324,092...62,332,115
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G |
Alg6 |
ALG6, alpha-1,3-glucosyltransferase |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1C ClinVar Annotator: match by OMIM:603147 ClinVar Annotator: match by null |
OMIM ClinVar |
PMID:10359825 PMID:10852543 PMID:10914684 PMID:10924277 PMID:11106564 PMID:11558905 PMID:12855228 PMID:14517965 PMID:15771971 PMID:16007612 PMID:16321363 PMID:18414213 PMID:19862844 PMID:20398363 PMID:20447155 PMID:21334936 PMID:21899441 PMID:23044053 PMID:23430515 PMID:25525159 PMID:25741868 PMID:26117549 PMID:26453362 PMID:27287710 PMID:27959697 PMID:28492532 |
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NCBI chr 5:118,415,680...118,470,634
Ensembl chr 5:118,418,799...118,469,376
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G |
Magt1 |
magnesium transporter 1 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type ICC ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc |
OMIM ClinVar |
PMID:25135935 PMID:25741868 PMID:31036665 |
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NCBI chr X:77,023,423...77,061,603
Ensembl chr X:77,020,402...77,061,667
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G |
Alg3 |
ALG3, alpha-1,3- mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D ClinVar Annotator: match by OMIM:601110 |
OMIM ClinVar |
PMID:8552211 PMID:10581255 PMID:15108280 PMID:15840742 PMID:16006436 PMID:17551933 PMID:23806237 PMID:25741868 PMID:28492532 |
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NCBI chr11:83,985,484...83,991,706
Ensembl chr11:83,986,230...83,991,706
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G |
Dpm1 |
dolichyl-phosphate mannosyltransferase subunit 1, catalytic |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E ClinVar Annotator: match by null ClinVar Annotator: match by OMIM:608799 |
OMIM ClinVar |
PMID:9536098 PMID:10642597 PMID:10642602 PMID:15669674 PMID:16641202 PMID:17576681 PMID:23856421 PMID:25741868 PMID:26729507 PMID:27481510 PMID:28492532 |
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NCBI chr 3:164,966,637...164,986,180
Ensembl chr 3:164,966,637...164,986,180
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G |
Mpdu1 |
mannose-P-dolichol utilization defect 1 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1F ClinVar Annotator: match by OMIM:609180 |
OMIM ClinVar |
PMID:11733556 PMID:11733564 PMID:25741868 PMID:28492532 PMID:28940310 |
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NCBI chr10:56,261,636...56,267,213
Ensembl chr10:56,261,637...56,267,213
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G |
Sox15 |
SRY-box transcription factor 15 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1F |
ClinVar |
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NCBI chr10:56,260,514...56,263,503
Ensembl chr10:56,260,514...56,263,503
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G |
Alg12 |
ALG12, alpha-1,6-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1G ClinVar Annotator: match by OMIM:607143 |
OMIM ClinVar |
PMID:11983712 PMID:12093361 PMID:12217961 PMID:12736397 PMID:15639192 PMID:17506107 PMID:19862844 PMID:25019053 PMID:25326635 PMID:25741868 PMID:28492532 PMID:31481313 |
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NCBI chr 7:129,798,663...129,812,677
Ensembl chr 7:129,798,663...129,812,388
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G |
Ap4e1 |
adaptor related protein complex 4 subunit epsilon 1 |
|
ISO |
ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation |
ClinVar |
PMID:25741868 |
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NCBI chr 3:119,484,714...119,548,491
Ensembl chr 3:119,484,677...119,548,621
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G |
Alg8 |
ALG8, alpha-1,3-glucosyltransferase |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1H ClinVar Annotator: match by OMIM:608104 |
OMIM ClinVar |
PMID:12480927 PMID:15235028 PMID:19862844 PMID:25428507 PMID:25741868 PMID:26066342 PMID:26653770 PMID:28492532 PMID:28940310 |
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NCBI chr 1:162,342,061...162,362,139
Ensembl chr 1:162,342,051...162,362,141
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G |
Alg2 |
ALG2, alpha-1,3/1,6-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar Annotator: match by OMIM:607906 |
OMIM ClinVar |
PMID:12684507 PMID:25741868 PMID:28492532 |
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NCBI chr 5:63,187,466...63,192,025
Ensembl chr 5:63,187,468...63,192,025
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G |
Ccdc115 |
coiled-coil domain containing 115 |
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ISO |
ClinVar Annotator: match by term: Congenital disorders of glycosylation type II |
ClinVar |
PMID:25741868 PMID:26833332 |
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NCBI chr 9:37,774,876...37,778,839
Ensembl chr 9:37,775,311...37,779,967
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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 |
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NCBI chr10:65,775,721...65,780,293
Ensembl chr10:65,775,715...65,780,349
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G |
Abcg4 |
ATP binding cassette subfamily G member 4 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J |
ClinVar |
PMID:28492532 |
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NCBI chr 8:48,604,915...48,626,219
Ensembl chr 8:48,606,403...48,619,592
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G |
C2cd2l |
C2CD2-like |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J |
ClinVar |
PMID:28492532 |
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NCBI chr 8:48,641,792...48,652,119
Ensembl chr 8:48,641,801...48,652,071
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G |
Cbl |
Cbl proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J |
ClinVar |
PMID:28492532 |
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NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
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G |
Ccdc153 |
coiled-coil domain containing 153 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J |
ClinVar |
PMID:28492532 |
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NCBI chr 8:48,570,718...48,577,856
Ensembl chr 8:48,569,328...48,577,855
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G |
Dpagt1 |
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar Annotator: match by OMIM:608093 |
OMIM ClinVar |
PMID:9536098 PMID:12872255 PMID:17576681 PMID:18414213 PMID:22304930 PMID:22492991 PMID:22742743 PMID:22786653 PMID:23249953 PMID:23430862 PMID:23806237 PMID:24759841 PMID:25326635 PMID:25500013 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28662078 PMID:28712839 PMID:30117111 PMID:30388443 PMID:31153949 |
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NCBI chr 8:48,657,779...48,664,531
Ensembl chr 8:48,657,795...48,664,860
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G |
Hinfp |
histone H4 transcription factor |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J |
ClinVar |
PMID:28492532 |
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NCBI chr 8:48,626,398...48,638,012
Ensembl chr 8:48,628,340...48,634,797
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G |
Hmbs |
hydroxymethylbilane synthase |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
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G |
Nlrx1 |
NLR family member X1 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J |
ClinVar |
PMID:28492532 |
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NCBI chr 8:48,583,559...48,600,203
Ensembl chr 8:48,584,071...48,597,867
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G |
Pdzd3 |
PDZ domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J |
ClinVar |
PMID:28492532 |
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NCBI chr 8:48,577,905...48,582,353
Ensembl chr 8:48,577,952...48,582,353
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G |
Alg1 |
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K ClinVar Annotator: match by OMIM:608540 |
OMIM ClinVar |
PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 PMID:22966035 PMID:23757202 PMID:24033266 PMID:25741868 PMID:25956699 PMID:26453362 PMID:26931382 PMID:27172925 PMID:27325525 PMID:28492532 PMID:28554332 |
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NCBI chr10:10,539,930...10,550,178
Ensembl chr10:10,539,930...10,550,138
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G |
Eef2kmt |
eukaryotic elongation factor 2 lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K |
ClinVar |
PMID:14709599 PMID:22966035 PMID:25741868 PMID:26931382 PMID:28492532 |
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NCBI chr10:10,530,302...10,540,428
Ensembl chr10:10,530,365...10,540,428
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G |
Alg9 |
ALG9, alpha-1,2-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il ClinVar Annotator: match by OMIM:608776 |
OMIM ClinVar |
PMID:9536098 PMID:15148656 PMID:15945070 PMID:17576681 PMID:25741868 PMID:26453364 PMID:26467025 PMID:28492532 PMID:31395617 |
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NCBI chr 8:55,202,140...55,265,478
Ensembl chr 8:55,202,725...55,265,478
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G |
Atp6v0a2 |
ATPase H+ transporting V0 subunit a2 |
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ISO |
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation |
ClinVar |
PMID:9536098 PMID:17576681 PMID:18157129 PMID:19321599 PMID:23963297 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr12:37,368,321...37,398,233
Ensembl chr12:37,363,906...37,425,596
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G |
Dolk |
dolichol kinase |
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ISO |
ClinVar Annotator: match by OMIM:610768 ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M |
ClinVar OMIM |
PMID:17273964 PMID:22242004 PMID:23806237 PMID:23890587 PMID:24033266 PMID:25741868 PMID:25819062 PMID:27212206 PMID:28074886 PMID:28492532 PMID:28816422 |
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NCBI chr 3:8,850,154...8,852,192
Ensembl chr 3:8,850,154...8,852,192
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G |
Nup188 |
nucleoporin 188 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M |
ClinVar |
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NCBI chr 3:8,852,271...8,908,608
Ensembl chr 3:8,873,933...8,908,438
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G |
Rft1 |
RFT1 homolog |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar Annotator: match by OMIM:612015 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18313027 PMID:19701946 PMID:19856127 PMID:23111317 PMID:25741868 PMID:28492532 PMID:28940310 |
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NCBI chr16:6,712,387...6,746,711
Ensembl chr16:6,712,389...6,746,696
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G |
Alg11 |
ALG11, alpha-1,2-mannosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P ClinVar Annotator: match by OMIM:613661 |
OMIM ClinVar |
PMID:20080937 PMID:22213132 PMID:25741868 PMID:28492532 PMID:30676690 |
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NCBI chr16:74,854,007...74,866,096
Ensembl chr16:74,857,562...74,864,816
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G |
Atp7b |
ATPase copper transporting beta |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P |
ClinVar |
PMID:28492532 |
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NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
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G |
Srd5a3 |
steroid 5 alpha-reductase 3 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1Q ClinVar Annotator: match by OMIM:612379 |
OMIM ClinVar |
PMID:20637498 PMID:20852264 PMID:22304929 PMID:25326635 PMID:25741868 PMID:26219881 PMID:27480077 PMID:28492532 PMID:28940310 PMID:31319225 PMID:32581362 |
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NCBI chr14:34,554,769...34,570,423
Ensembl chr14:34,556,220...34,570,356
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G |
Ddost |
dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir |
OMIM ClinVar |
PMID:22305527 PMID:25741868 PMID:28492532 |
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NCBI chr 5:156,668,924...156,676,036
Ensembl chr 5:156,668,712...156,676,035
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G |
Pgm1 |
phosphoglucomutase 1 |
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ISO |
ClinVar Annotator: match by OMIM:614921 ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1t ClinVar Annotator: match by term: GSD XIV ClinVar Annotator: match by term: CDG It ClinVar Annotator: match by term: Glycogen storage disease XIV |
ClinVar OMIM |
PMID:19625727 PMID:22492991 PMID:24499211 PMID:25288802 PMID:25741868 PMID:26768186 PMID:27206562 PMID:28492532 |
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NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055
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G |
Ak1 |
adenylate kinase 1 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,652,143...11,659,135
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G |
Bbln |
bublin coiled coil protein |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,408,076...11,410,907
Ensembl chr 3:11,408,348...11,410,732
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G |
Cdk9 |
cyclin-dependent kinase 9 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,742,269...11,747,117
Ensembl chr 3:11,742,266...11,747,113
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G |
Cfap157 |
cilia and flagella associated protein 157 |
|
ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,813,575...11,820,549
Ensembl chr 3:11,813,575...11,820,549
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G |
Ciz1 |
CDKN1A interacting zinc finger protein 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,392,046...11,409,218
Ensembl chr 3:11,392,791...11,410,180
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G |
Dpm2 |
dolichyl-phosphate mannosyltransferase subunit 2, regulatory |
|
ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar Annotator: match by OMIM:615042 |
OMIM ClinVar |
PMID:18414213 PMID:19901254 PMID:23109149 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 3:11,587,941...11,590,528
Ensembl chr 3:11,587,941...11,590,528
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G |
Eng |
endoglin |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
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G |
Fam102a |
family with sequence similarity 102, member A |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,554,084...11,586,315
Ensembl chr 3:11,554,457...11,586,303
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G |
Fpgs |
folylpolyglutamate synthase |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,717,667...11,729,694
Ensembl chr 3:11,717,667...11,723,327
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G |
Lcn2 |
lipocalin 2 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
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G |
Lrsam1 |
leucine rich repeat and sterile alpha motif containing 1 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,970,401...12,009,463
Ensembl chr 3:11,972,813...12,007,570
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G |
Naif1 |
nuclear apoptosis inducing factor 1 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,476,330...11,482,629
Ensembl chr 3:11,476,883...11,481,744
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G |
Niban2 |
niban apoptosis regulator 2 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,921,715...11,971,327
Ensembl chr 3:11,921,715...11,971,327
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G |
Pip5kl1 |
phosphatidylinositol-4-phosphate 5-kinase-like 1 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,592,156...11,597,513
Ensembl chr 3:11,593,655...11,597,410
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G |
Ptges2 |
prostaglandin E synthase 2 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,424,195...11,431,379
Ensembl chr 3:11,424,099...11,431,402
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G |
Ptrh1 |
peptidyl-tRNA hydrolase 1 homolog |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,811,303...11,817,007
Ensembl chr 3:11,811,962...11,825,640
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G |
Sh2d3c |
SH2 domain containing 3C |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,756,427...11,793,547
Ensembl chr 3:11,756,384...11,793,593
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G |
Slc25a25 |
solute carrier family 25 member 25 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,442,396...11,476,186
Ensembl chr 3:11,442,397...11,452,529
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G |
St6galnac4 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,607,103...11,619,595
Ensembl chr 3:11,607,225...11,619,593
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G |
St6galnac6 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,620,050...11,641,460
Ensembl chr 3:11,629,556...11,641,466
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G |
Stxbp1 |
syntaxin binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
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G |
Tor2a |
torsin family 2, member A |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,794,731...11,800,261
Ensembl chr 3:11,795,629...11,799,693
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G |
Ttc16 |
tetratricopeptide repeat domain 16 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,799,788...11,811,600
Ensembl chr 3:11,799,612...11,810,901
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G |
Stt3a |
STT3 oligosaccharyltransferase complex catalytic subunit A |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1w |
OMIM ClinVar |
PMID:23842455 PMID:25741868 PMID:28424003 |
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NCBI chr 8:39,204,218...39,243,751
Ensembl chr 8:39,181,163...39,243,882
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G |
Stt3b |
STT3 oligosaccharyltransferase complex catalytic subunit B |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x ClinVar Annotator: match by OMIM:615597 |
OMIM ClinVar |
PMID:23842455 PMID:25741868 PMID:28492532 |
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NCBI chr 8:123,303,910...123,370,729
Ensembl chr 8:123,293,057...123,371,257
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G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y |
ClinVar |
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NCBI chr X:156,999,803...157,008,735
Ensembl chr X:156,999,826...157,008,733
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G |
Plxnb3 |
plexin B3 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y |
ClinVar |
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NCBI chr X:157,015,297...157,030,147
Ensembl chr X:157,015,305...157,028,434
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G |
Srpk3 |
SRSF protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y |
ClinVar |
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NCBI chr X:157,008,773...157,014,342
Ensembl chr X:157,008,824...157,013,443
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G |
Ssr4 |
signal sequence receptor subunit 4 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y |
OMIM ClinVar |
PMID:24218363 PMID:25326635 PMID:25741868 PMID:26264460 |
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NCBI chr X:156,995,763...156,999,702
Ensembl chr X:156,995,779...156,999,650
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G |
Dpm3 |
dolichyl-phosphate mannosyltransferase subunit 3, regulatory |
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ISO |
ClinVar Annotator: match by OMIM:612937 ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1O |
ClinVar OMIM |
PMID:19576565 PMID:28492532 PMID:28803818 PMID:29246662 PMID:31266720 PMID:31469168 |
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NCBI chr 2:188,583,664...188,584,179
Ensembl chr 2:188,583,664...188,584,179
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G |
Alg13 |
ALG13, UDP-N-acetylglucosaminyltransferase subunit |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 ClinVar Annotator: match by term: CDG Is ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is ClinVar Annotator: match by OMIM:300884 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:22492991 PMID:23033978 PMID:23934111 PMID:24476948 PMID:24781210 PMID:24896178 PMID:25732998 PMID:25741868 PMID:26138355 PMID:26467025 PMID:26482601 PMID:28492532 PMID:28940310 PMID:32238909 PMID:32681751 |
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NCBI chr X:115,561,329...115,589,792
Ensembl chr X:115,561,332...115,619,505
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G |
Dcx |
doublecortin |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 |
ClinVar |
PMID:28492532 |
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NCBI chr X:115,098,675...115,175,515
Ensembl chr X:115,098,675...115,175,299
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