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G |
Ahcy |
adenosylhomocysteinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15024124 |
|
NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393
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G |
Aldh6a1 |
aldehyde dehydrogenase 6 family, member A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10947204 |
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NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656
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G |
Arg1 |
arginase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21239484 |
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NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
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G |
Asl |
argininosuccinate lyase |
|
ISO |
Argininosuccinic Aciduria; DNA:mutations:multiple (human) |
RGD |
PMID:2263616 |
RGD:734610 |
NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662
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G |
Cth |
cystathionine gamma-lyase |
|
ISO |
cystathioninuria, OMIM:219500, 940delCT, T67I, Q240E |
RGD |
PMID:12574942 |
RGD:1600761 |
NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234
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G |
D2hgdh |
D-2-hydroxyglutarate dehydrogenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15609246 |
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NCBI chr 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382
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G |
Eif2ak4 |
eukaryotic translation initiation factor 2 alpha kinase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21239484 |
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NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
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G |
Gamt |
guanidinoacetate N-methyltransferase |
|
ISO |
GAMT deficiency,OMIM:601240;DNA:point mutation, DNA:deletion CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15651030 PMID:8651275 |
RGD:1601275 |
NCBI chr 7:9,448,590...9,451,778
Ensembl chr 7:9,448,628...9,451,778
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G |
Gclc |
glutamate-cysteine ligase, catalytic subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10515893 |
|
NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
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G |
Gcsh |
glycine cleavage system protein H |
|
ISO |
protein:decreased activity:liver: |
RGD |
PMID:7070876 |
RGD:12904659 |
NCBI chr19:45,036,013...45,046,770
Ensembl chr19:45,036,011...45,046,792
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G |
Hmgcl |
3-hydroxy-3-methylglutaryl-CoA lyase |
|
ISO |
Hydroxymethylglutaric aciduria/HMG-CoA lyase deficiency |
RGD |
PMID:8440722 |
RGD:1599500 |
NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068
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G |
Ivd |
isovaleryl-CoA dehydrogenase |
|
ISO |
isovaleric acidemia, OMIM:243500 |
RGD |
PMID:2063866 |
RGD:1600039 |
NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575
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G |
Mat1a |
methionine adenosyltransferase 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7560086 PMID:8770875 |
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NCBI chr16:16,983,084...17,001,284
Ensembl chr16:16,983,022...17,001,274
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G |
Nags |
N-acetylglutamate synthase |
|
ISO |
N-acetylglutamate synthase deficiency, OMIM:237310, DNA:frameshift:1025delG, point mutation:W324X |
RGD |
PMID:12594532 |
RGD:1600560 |
NCBI chr10:87,098,330...87,102,465
Ensembl chr10:87,098,330...87,102,465
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G |
Pcca |
propionyl-CoA carboxylase subunit alpha |
|
ISO |
propionic acidemia, OMIM:606054, DNA:deletion:intron:1824delAAGT |
RGD |
PMID:9385377 |
RGD:1600306 |
NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266
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G |
Pccb |
propionyl-CoA carboxylase subunit beta |
|
ISO |
propionic acidemia, OMIM:606054, DNA:point mutation:exon:R412W |
RGD |
PMID:8411997 |
RGD:1600331 |
NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234
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G |
Phgdh |
phosphoglycerate dehydrogenase |
|
ISO |
PHGDH deficiency, OMIM:601815, DNA:point mutation:exon:V490M |
RGD |
PMID:11055895 |
RGD:1600412 |
NCBI chr 2:185,906,964...185,936,160
Ensembl chr 2:185,906,966...185,935,944
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G |
Prodh1 |
proline dehydrogenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17412540 PMID:12217952 |
RGD:1599206 |
NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305
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G |
Psph |
phosphoserine phosphatase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14673469 |
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NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074
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G |
Secisbp2 |
SECIS binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16228000 |
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NCBI chr17:13,538,513...13,569,573
Ensembl chr17:13,538,513...13,569,523
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G |
Slc25a15 |
solute carrier family 25 member 15 |
|
ISO |
|
RGD |
PMID:10369256 PMID:10805333 |
RGD:1599239, RGD:1599240 |
NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010
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G |
Slc7a7 |
solute carrier family 7 member 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11544277 |
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NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648
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G |
Xpc |
XPC complex subunit, DNA damage recognition and repair factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9804340 |
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NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010
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G |
Dhtkd1 |
dehydrogenase E1 and transketolase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: 2-KETOADIPIC ACIDURIA | ClinVar Annotator: match by term: 2-aminoadipic 2-oxoadipic aciduria |
OMIM ClinVar |
PMID:8069629 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23141293 PMID:25640679 PMID:25741868 PMID:25860818 PMID:26141459 PMID:27582484 PMID:28492532 PMID:29127259 PMID:29752936 PMID:29858556 PMID:32160276 PMID:32303640 PMID:32695416 More...
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NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723
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G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
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ISO |
ClinVar Annotator: match by term: 2-KETOADIPIC ACIDURIA |
ClinVar |
PMID:25326637 PMID:25741868 PMID:28492532 |
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NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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G |
D2hgdh |
D-2-hydroxyglutarate dehydrogenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382
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G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27469509 |
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NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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G |
L2hgdh |
L-2-hydroxyglutarate dehydrogenase |
|
ISO |
CTD Direct Evidence: marker/mechanism DNA:mutations:exons:c.1015delA,c.1319C>A, c.169G>A(human) DNA:mutations:exons:c.169G>A,c.542G>T(human) |
CTD RGD |
PMID:15385440 PMID:15548604 PMID:21937992 PMID:24894778 PMID:25763823 PMID:26208971 More...
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RGD:13506818, RGD:13506815, RGD:13506814 |
NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578
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G |
Slc25a1 |
solute carrier family 25 member 1 |
|
ISO |
DNA:mutations:exons: ClinVar Annotator: match by term: 2-hydroxyglutaric aciduria CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:9031613 PMID:23393310 PMID:23561848 PMID:25741868 PMID:28492532 PMID:29238895 PMID:23561848 More...
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RGD:13506826 |
NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
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G |
Acadsb |
acyl-CoA dehydrogenase, short/branched chain |
|
ISO |
ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase |
OMIM ClinVar |
PMID:9536098 PMID:10832746 PMID:11013134 PMID:12837870 PMID:15615815 PMID:16199547 PMID:16317551 PMID:17576681 PMID:17945527 PMID:20547083 PMID:23712021 PMID:25741868 PMID:26284228 PMID:28492532 PMID:30626930 PMID:30730842 More...
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NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379
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G |
Ikzf5 |
IKAROS family zinc finger 5 |
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ISO |
ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase |
ClinVar |
PMID:28492532 |
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NCBI chr 1:186,169,108...186,188,847
Ensembl chr 1:186,170,788...186,188,834
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G |
Fuca1 |
alpha-L-fucosidase 1 |
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ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:9817922 PMID:17692550 PMID:23465862 PMID:28492532 |
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NCBI chr 5:148,152,718...148,169,972
Ensembl chr 5:148,152,700...148,169,972
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G |
Gale |
UDP-galactose-4-epimerase |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
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NCBI chr 5:148,193,886...148,198,392
Ensembl chr 5:148,194,791...148,198,388
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G |
Hmgcl |
3-hydroxy-3-methylglutaryl-CoA lyase |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
OMIM ClinVar |
PMID:946337 PMID:7479590 PMID:8617516 PMID:8798725 PMID:9163320 PMID:9439591 PMID:9463337 PMID:9536098 PMID:9784232 PMID:9817922 PMID:10916782 PMID:11129331 PMID:11461194 PMID:12746442 PMID:14518825 PMID:15122894 PMID:15308132 PMID:15752612 PMID:16199547 PMID:16330550 PMID:16601870 PMID:17173698 PMID:17576681 PMID:17628222 PMID:17692550 PMID:19036343 PMID:19177531 PMID:19932602 PMID:20532825 PMID:22847177 PMID:23465862 PMID:25741868 PMID:25872961 PMID:28488182 PMID:28492532 PMID:28583327 PMID:28747690 PMID:32059735 More...
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NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068
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G |
Lipc |
lipase C, hepatic type |
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ISO |
ClinVar Annotator: match by term: HL DEFICIENCY |
ClinVar |
PMID:1671786 PMID:1883393 PMID:8123642 PMID:8732782 PMID:10729390 PMID:12777476 PMID:19088157 PMID:21130455 PMID:21986251 PMID:23685560 PMID:24033266 PMID:24497850 PMID:24633158 PMID:25361584 PMID:25741868 PMID:25995285 PMID:28492532 PMID:28870971 PMID:28951076 PMID:30333156 More...
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NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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G |
Mccc1 |
methylcrotonyl-CoA carboxylase subunit 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 1 deficiency |
OMIM ClinVar |
PMID:9187484 PMID:9536098 PMID:10485305 PMID:11170888 PMID:11181649 PMID:11406611 PMID:14680978 PMID:15359379 PMID:15868465 PMID:16010683 PMID:16199547 PMID:16835865 PMID:17576681 PMID:17968484 PMID:19339287 PMID:21071250 PMID:22150417 PMID:22264772 PMID:22642865 PMID:24033266 PMID:24078573 PMID:25356967 PMID:25382614 PMID:25741868 PMID:26566957 PMID:27577216 PMID:27601257 PMID:28492532 PMID:30626930 PMID:30887117 PMID:31901042 More...
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NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222
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G |
Mccc2 |
methylcrotonyl-CoA carboxylase subunit 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency |
OMIM ClinVar |
PMID:1293382 PMID:7128647 PMID:8598650 PMID:9536098 PMID:9544913 PMID:11170888 PMID:11181649 PMID:11406611 PMID:14680978 PMID:15877210 PMID:16010683 PMID:16199547 PMID:16835865 PMID:17576681 PMID:17908719 PMID:17968484 PMID:19706617 PMID:20818363 PMID:20818383 PMID:21071250 PMID:22030835 PMID:22150417 PMID:22264772 PMID:22642865 PMID:25087612 PMID:25356967 PMID:25381946 PMID:25382614 PMID:25741868 PMID:26566957 PMID:26589311 PMID:26764160 PMID:27033733 PMID:27601257 PMID:28018443 PMID:28492532 PMID:29767664 PMID:30510438 PMID:30626930 PMID:32778825 PMID:33423264 More...
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NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972
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G |
Mccc1 |
methylcrotonyl-CoA carboxylase subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency |
ClinVar |
PMID:10485305 PMID:11170888 PMID:11181649 PMID:11406611 PMID:14680978 PMID:15359379 PMID:15868465 PMID:16010683 PMID:16199547 PMID:16835865 PMID:22264772 PMID:22642865 PMID:24033266 PMID:25356967 PMID:25382614 PMID:25741868 PMID:26566957 PMID:27601257 PMID:28492532 More...
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NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222
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G |
Mccc2 |
methylcrotonyl-CoA carboxylase subunit 2 |
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ISO |
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency |
ClinVar |
PMID:11181649 PMID:16010683 PMID:16835865 PMID:17908719 PMID:20818363 PMID:20818383 PMID:21071250 PMID:22264772 PMID:22642865 PMID:25087612 PMID:25356967 PMID:25741868 PMID:26764160 PMID:27601257 PMID:28492532 PMID:30510438 PMID:32778825 More...
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NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972
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G |
Dnajc19 |
DnaJ heat shock protein family (Hsp40) member C19 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria |
ClinVar |
PMID:25741868 |
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NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
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G |
Auh |
AU RNA binding methylglutaconyl-CoA hydratase |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 |
OMIM ClinVar |
PMID:6181239 PMID:9536098 PMID:10070612 PMID:10626578 PMID:10896289 PMID:12434311 PMID:12655555 PMID:15033206 PMID:16199547 PMID:16354225 PMID:16640564 PMID:17130438 PMID:17576681 PMID:20855850 PMID:20882351 PMID:21840233 PMID:24598254 PMID:25741868 PMID:28492532 More...
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NCBI chr17:12,329,522...12,424,896
Ensembl chr17:12,329,524...12,424,896
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G |
Dnajc19 |
DnaJ heat shock protein family (Hsp40) member C19 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 |
ClinVar |
PMID:16055927 PMID:27928778 PMID:28492532 |
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NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
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G |
Opa3 |
outer mitochondrial membrane lipid metabolism regulator OPA3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 |
OMIM ClinVar |
PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 PMID:17576681 PMID:18985435 PMID:20350831 PMID:23700088 PMID:24136862 PMID:24749080 PMID:25159689 PMID:25201222 PMID:25205859 PMID:25741868 PMID:26190011 PMID:27528516 PMID:27629047 PMID:28081242 PMID:28492532 More...
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NCBI chr 1:78,881,392...78,899,549 NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469
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G |
Ccdc39 |
coiled-coil domain containing 39 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:116,665,261...116,703,364
Ensembl chr 2:116,665,261...116,703,350
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G |
Dnajc19 |
DnaJ heat shock protein family (Hsp40) member C19 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 |
OMIM ClinVar |
PMID:9536098 PMID:16055927 PMID:17576681 PMID:22797137 PMID:22981120 PMID:25741868 PMID:27426421 PMID:27928778 PMID:28492532 PMID:29625556 PMID:34008892 More...
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NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
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G |
Fxr1 |
FMR1 autosomal homolog 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:116,884,167...116,937,586
Ensembl chr 2:116,884,248...116,937,590
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G |
Htra2 |
HtrA serine peptidase 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 8 |
OMIM ClinVar |
PMID:25741868 PMID:27208207 PMID:27696117 |
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NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095
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G |
Loxl3 |
lysyl oxidase-like 3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 8 |
ClinVar |
PMID:27208207 |
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NCBI chr 4:115,540,640...115,556,958
Ensembl chr 4:115,540,685...115,557,466
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G |
Timm50 |
translocase of inner mitochondrial membrane 50 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 9 |
OMIM ClinVar |
PMID:25741868 PMID:27573165 PMID:28492532 PMID:30190335 PMID:31058414 PMID:32369862 More...
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NCBI chr 1:83,574,872...83,582,769
Ensembl chr 1:83,556,757...83,582,793
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G |
Clpb |
caseinolytic mitochondrial matrix peptidase chaperone subunit B |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25595726 PMID:25597510 PMID:25597511 PMID:25650066 PMID:25741868 PMID:26916670 PMID:27290639 PMID:27891836 PMID:28492532 PMID:28554332 PMID:28687938 PMID:32313153 PMID:34115842 PMID:34140661 PMID:34782754 More...
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NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
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G |
Serac1 |
serine active site containing 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:22683713 PMID:23707711 PMID:24033266 PMID:24997715 PMID:25016221 PMID:25741868 PMID:27604308 PMID:28482397 PMID:28492532 PMID:28778788 PMID:28916646 PMID:32313153 More...
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NCBI chr 1:46,620,741...46,656,801
Ensembl chr 1:46,620,498...46,656,727
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G |
Oplah |
5-oxoprolinase (ATP-hydrolysing) |
|
ISO |
ClinVar Annotator: match by term: 5-Oxoprolinase deficiency |
OMIM ClinVar |
PMID:16199547 PMID:21651516 PMID:23430506 PMID:25741868 PMID:27477828 PMID:28492532 More...
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NCBI chr 7:108,011,472...108,051,751
Ensembl chr 7:108,011,475...108,035,297
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G |
Adsl |
adenylosuccinate lyase |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1302001 PMID:6150139 PMID:7334371 PMID:8598641 PMID:9197470 PMID:9266401 PMID:9536098 PMID:9545543 PMID:10090474 PMID:10888601 PMID:10958654 PMID:12016589 PMID:12070256 PMID:12368987 PMID:12833398 PMID:15571235 PMID:15571240 PMID:16199547 PMID:16403972 PMID:16839792 PMID:17188615 PMID:17576681 PMID:18524658 PMID:18830228 PMID:19405474 PMID:20127976 PMID:20175147 PMID:20177786 PMID:20884265 PMID:20933180 PMID:21210713 PMID:22180458 PMID:22812634 PMID:23055421 PMID:23504561 PMID:23714113 PMID:23937257 PMID:24033266 PMID:24781210 PMID:25112391 PMID:25326635 PMID:25741868 PMID:26467025 PMID:27504266 PMID:28487569 PMID:28492532 PMID:28559277 PMID:29302074 PMID:29655203 PMID:30609409 PMID:31164858 More...
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NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760
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Atf4 |
activating transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 7:111,804,135...111,806,457
Ensembl chr 7:111,804,183...111,806,446
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Cacna1i |
calcium voltage-gated channel subunit alpha1 I |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 7:111,835,996...111,947,418
Ensembl chr 7:111,836,012...111,944,688
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Enthd1 |
ENTH domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 7:111,994,775...112,109,246
Ensembl chr 7:111,995,395...112,109,246
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Fam83f |
family with sequence similarity 83, member F |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 7:112,211,164...112,240,454
Ensembl chr 7:112,211,164...112,240,452
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Grap2 |
GRB2-related adaptor protein 2 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 7:112,117,142...112,190,880
Ensembl chr 7:112,117,142...112,190,877
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LOC120093947 |
small nucleolar RNA SNORD43 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 7:111,627,136...111,627,199
Ensembl chr 7:111,627,136...111,627,199
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LOC120094014 |
small nucleolar RNA U83B |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 7:111,622,885...111,622,978
Ensembl chr 7:111,622,885...111,622,978
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Mchr1 |
melanin-concentrating hormone receptor 1 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 7:112,761,554...112,764,746
Ensembl chr 7:112,761,554...112,764,032
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Mgat3 |
beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 7:111,708,353...111,761,825
Ensembl chr 7:111,675,730...111,762,026
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Mief1 |
mitochondrial elongation factor 1 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 7:111,786,630...111,802,220
Ensembl chr 7:111,786,709...111,802,220
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Mrtfa |
myocardin related transcription factor A |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 7:112,544,312...112,714,431
Ensembl chr 7:112,544,312...112,714,418
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Pdgfb |
platelet derived growth factor subunit B |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Rpl3 |
ribosomal protein L3 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 7:111,622,257...111,627,639
Ensembl chr 7:111,621,610...111,636,468
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Rps19bp1 |
ribosomal protein S19 binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 7:111,812,129...111,812,751
Ensembl chr 7:111,809,355...111,812,757
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Sgsm3 |
small G protein signaling modulator 3 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 7:112,514,453...112,544,109
Ensembl chr 7:112,514,630...112,544,108
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Syngr1 |
synaptogyrin 1 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 7:111,635,911...111,659,341
Ensembl chr 7:111,635,918...111,659,341
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Tab1 |
TGF-beta activated kinase 1/MAP3K7 binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 7:111,675,829...111,707,058
Ensembl chr 7:111,686,371...111,707,058
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Tnrc6b |
trinucleotide repeat containing adaptor 6B |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 7:112,252,351...112,469,829
Ensembl chr 7:112,252,359...112,461,790
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Slc25a13 |
solute carrier family 25 member 13 |
susceptibility |
ISO |
DNA:mutations: :multiple ClinVar Annotator: match by term: Adult-onset citrullinemia type 2 | ClinVar Annotator: match by term: Citrin deficiency | ClinVar Annotator: match by term: Citrullinemia, type II, adult-onset | ClinVar Annotator: match by term: Late-onset citrullinemia CTD Direct Evidence: marker/mechanism DNA,protein:mutations,decreased expression:exons,liver:multiple |
ClinVar CTD OMIM RGD |
PMID:9536098 PMID:10369257 PMID:11153906 PMID:11281457 PMID:11343052 PMID:11343053 PMID:11793471 PMID:12409267 PMID:12424587 PMID:12512993 PMID:14680984 PMID:15050970 PMID:16059747 PMID:16199547 PMID:16311094 PMID:16449956 PMID:17576681 PMID:17880783 PMID:18392553 PMID:18487280 PMID:19036621 PMID:19470249 PMID:20301360 PMID:20376801 PMID:20927635 PMID:21134364 PMID:21424115 PMID:21507300 PMID:22710133 PMID:23022256 PMID:23053473 PMID:23067347 PMID:23430852 PMID:23701493 PMID:24069319 PMID:24161253 PMID:24586645 PMID:25110155 PMID:25216257 PMID:25365849 PMID:25640679 PMID:25741868 PMID:26852511 PMID:26858187 PMID:27347070 PMID:27405544 PMID:27577219 PMID:27578510 PMID:28492532 PMID:29651749 PMID:29659898 PMID:33497767 PMID:10369257 PMID:11153906 More...
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RGD:1599241, RGD:1599242 |
NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902
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B2m |
beta-2 microglobulin |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Bloc1s6 |
biogenesis of lysosomal organelles complex 1 subunit 6 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
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Duox1 |
dual oxidase 1 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,260,526...109,295,588
Ensembl chr 3:109,262,397...109,295,563
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Duox2 |
dual oxidase 2 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
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Duoxa1 |
dual oxidase maturation factor 1 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,249,815...109,260,511
Ensembl chr 3:109,249,923...109,260,499
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Duoxa2 |
dual oxidase maturation factor 2 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,245,476...109,248,844
Ensembl chr 3:109,245,476...109,248,968
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Gatm |
glycine amidinotransferase |
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ISO |
ClinVar Annotator: match by term: AGAT deficiency | ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 3 |
OMIM ClinVar |
PMID:9536098 PMID:10762163 PMID:11555793 PMID:12468279 PMID:17576681 PMID:20625172 PMID:20682460 PMID:22386973 PMID:23660394 PMID:23770102 PMID:24415674 PMID:25741868 PMID:26003046 PMID:26467025 PMID:26490222 PMID:27233232 PMID:27577545 PMID:28492532 PMID:29654216 More...
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NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
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MGC105649 |
hypothetical LOC302884 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,719,952...109,723,507
Ensembl chr 3:109,719,897...109,724,006 Ensembl chr 3:109,719,897...109,724,006
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Patl2 |
PAT1 homolog 2 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,072,958...109,087,425
Ensembl chr 3:109,075,290...109,083,253
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Shf |
Src homology 2 domain containing F |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,296,517...109,316,315
Ensembl chr 3:109,296,784...109,316,328
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Slc28a2 |
solute carrier family 28 member 2 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,324,815...109,387,702
Ensembl chr 3:109,366,996...109,387,702
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Slc30a4 |
solute carrier family 30 member 4 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,753,270...109,775,306
Ensembl chr 3:109,753,273...109,775,306
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Sord |
sorbitol dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133
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Spata5l1 |
spermatogenesis associated 5-like 1 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,694,739...109,708,356
Ensembl chr 3:109,694,757...109,707,757
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Spg11 |
SPG11 vesicle trafficking associated, spatacsin |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
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Terb2 |
telomere repeat binding bouquet formation protein 2 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,138,343...109,156,700
Ensembl chr 3:109,138,343...109,156,683
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Trim69 |
tripartite motif-containing 69 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,111,468...109,135,255
Ensembl chr 3:109,111,468...109,132,037
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Cabp4 |
calcium binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Ocular albinism, type II |
ClinVar |
PMID:30718709 |
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NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172
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Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
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ISO |
ClinVar Annotator: match by term: Ocular albinism, type II DNA:deletion:exon: |
OMIM ClinVar RGD |
PMID:9662399 PMID:11281458 PMID:14230113 PMID:16199547 PMID:17525176 PMID:22194652 PMID:24124559 PMID:25741868 PMID:26992781 PMID:28002560 PMID:28341476 PMID:28492532 PMID:30718709 PMID:17525176 More...
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RGD:13782379 |
NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
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Whrn |
whirlin |
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ISO |
ClinVar Annotator: match by term: Ocular albinism, type II |
ClinVar |
PMID:28492532 PMID:30718709 |
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NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223
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Dct |
dopachrome tautomerase |
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ISO |
ClinVar Annotator: match by term: Albinism |
ClinVar |
PMID:33100333 |
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NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836
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Gpr143 |
G protein-coupled receptor 143 |
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ISO |
ClinVar Annotator: match by term: Albinism |
ClinVar |
PMID:8634705 PMID:28041643 |
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NCBI chr X:22,002,914...22,027,720
Ensembl chr X:22,002,914...22,027,715
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Oca2 |
OCA2 melanosomal transmembrane protein |
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ISO |
ClinVar Annotator: match by term: Albinism |
ClinVar |
PMID:19060277 PMID:23824587 PMID:25741868 PMID:27734839 PMID:28041643 PMID:28492532 PMID:28976636 PMID:29345414 More...
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NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
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Tyr |
tyrosinase |
treatment |
ISO IMP |
DNA:missense mutation:cds:p.H420R(mouse) ClinVar Annotator: match by term: Albinism |
ClinVar RGD |
PMID:666627 PMID:1429711 PMID:1820207 PMID:1832718 PMID:1899321 PMID:1903591 PMID:1970634 PMID:2903492 PMID:7704033 PMID:7849740 PMID:8434585 PMID:9158138 PMID:9163730 PMID:10766867 PMID:10987646 PMID:12753405 PMID:13680365 PMID:15146472 PMID:15381243 PMID:16517127 PMID:17952075 PMID:18326704 PMID:18463683 PMID:18488027 PMID:18488028 PMID:18821858 PMID:18925668 PMID:19060277 PMID:19208379 PMID:19533789 PMID:19626598 PMID:19865097 PMID:20861488 PMID:21541274 PMID:22294196 PMID:23504663 PMID:24033266 PMID:24721949 PMID:25216246 PMID:25741868 PMID:25919014 PMID:27734839 PMID:28041643 PMID:28266639 PMID:28451379 PMID:28492532 PMID:28629449 PMID:29345414 PMID:33223529 PMID:34008892 PMID:2567165 PMID:23409244 PMID:2112453 More...
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RGD:8694353, RGD:12792973, RGD:8694355 |
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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Tyrem1Kyo |
tyrosinase; TALEN induced mutant1, Kyo |
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IMP |
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RGD |
PMID:23409244 |
RGD:12792973 |
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Tyrp1 |
tyrosinase-related protein 1 |
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ISO |
ClinVar Annotator: match by term: Albinism |
ClinVar |
PMID:8651291 PMID:9345097 PMID:16199547 PMID:25741868 PMID:28041643 PMID:28492532 More...
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NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516
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Abtb1 |
ankyrin repeat and BTB domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:121,299,302...121,305,667
Ensembl chr 4:121,299,304...121,305,620
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Acad11 |
acyl-CoA dehydrogenase family, member 11 |
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ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 8:104,681,346...104,746,559
Ensembl chr 8:104,681,396...104,746,560
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Acad9 |
acyl-CoA dehydrogenase family, member 9 |
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ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 2:118,943,170...118,966,150
Ensembl chr 2:118,943,174...118,966,547
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Ackr4 |
atypical chemokine receptor 4 |
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ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 8:104,716,537...104,720,972
Ensembl chr 8:104,716,067...104,723,617
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Acp3 |
acid phosphatase 3 |
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ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 8:104,905,570...104,956,146
Ensembl chr 8:104,905,586...104,954,236
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Adcy5 |
adenylate cyclase 5 |
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ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974
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Aldh1l1 |
aldehyde dehydrogenase 1 family, member L1 |
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ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:123,059,989...123,106,471
Ensembl chr 4:123,060,008...123,106,465
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Aste1 |
asteroid homolog 1 |
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ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 8:106,026,570...106,044,694
Ensembl chr 8:106,026,515...106,044,430
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Atp2c1 |
ATPase secretory pathway Ca2+ transporting 1 |
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ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 8:106,034,777...106,155,854
Ensembl chr 8:106,034,636...106,156,006
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Bfsp2 |
beaded filament structural protein 2 |
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ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 8:104,006,226...104,063,399
Ensembl chr 8:104,006,226...104,063,399
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Casr |
calcium-sensing receptor |
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ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Ccdc14 |
coiled-coil domain containing 14 |
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ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr11:66,052,063...66,087,915
Ensembl chr11:66,052,620...66,087,956
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Cd86 |
CD86 molecule |
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ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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G |
Cdv3 |
CDV3 homolog |
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ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 8:103,934,006...103,947,173
Ensembl chr 8:103,933,996...103,947,192
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G |
Cfap100 |
cilia and flagella associated protein 100 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:122,914,693...122,938,994
Ensembl chr 4:122,914,698...122,938,580
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G |
Cfap92 |
cilia and flagella associated protein 92 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:120,126,565...120,181,575
Ensembl chr 4:120,126,567...120,181,546
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G |
Chchd6 |
coiled-coil-helix-coiled-coil-helix domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:121,803,501...122,024,209
Ensembl chr 4:121,792,717...122,024,216
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G |
Chst13 |
carbohydrate sulfotransferase 13 |
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ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:122,824,712...122,837,935
Ensembl chr 4:122,824,022...122,838,019
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G |
Cnbp |
CCHC-type zinc finger, nucleic acid binding protein |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:120,302,768...120,311,694
Ensembl chr 4:120,302,771...120,311,637
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G |
Col6a5 |
collagen type VI alpha 5 chain |
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ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 8:106,483,806...106,584,114
Ensembl chr 8:106,483,799...106,584,113
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G |
Col6a6 |
collagen type VI alpha 6 chain |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 8:106,318,010...106,473,419
Ensembl chr 8:106,306,422...106,473,472
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G |
Copg1 |
COPI coat complex subunit gamma 1 |
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ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:120,366,540...120,392,502
Ensembl chr 4:120,366,542...120,415,616
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G |
Cpne4 |
copine 4 |
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ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 8:105,177,376...105,653,075
Ensembl chr 8:105,177,376...105,653,068
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G |
Csta |
cystatin A |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr11:64,620,483...64,631,488
Ensembl chr11:64,620,483...64,631,488
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G |
Dnajb8 |
DnaJ heat shock protein family (Hsp40) member B8 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:120,681,918...120,685,108
Ensembl chr 4:120,681,926...120,687,552
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G |
Dnajc13 |
DnaJ heat shock protein family (Hsp40) member C13 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 8:104,767,785...104,877,317
Ensembl chr 8:104,767,788...104,877,317
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G |
Dtx3l |
deltex E3 ubiquitin ligase 3L |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr11:64,814,926...64,824,538
Ensembl chr11:64,814,926...64,824,538
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G |
Eaf2 |
ELL associated factor 2 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr11:63,960,200...64,004,610
Ensembl chr11:63,960,200...64,004,610
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G |
Eefsec |
eukaryotic elongation factor, selenocysteine-tRNA-specific |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:120,719,616...120,915,801
Ensembl chr 4:120,707,133...120,915,779
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G |
Efcab12 |
EF-hand calcium binding domain 12 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:148,869,381...148,892,922
Ensembl chr 4:148,869,387...148,890,560
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G |
Efcc1 |
EF-hand and coiled-coil domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:120,188,202...120,223,464
Ensembl chr 4:120,188,470...120,217,516
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G |
Fam162a |
family with sequence similarity 162, member A |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr11:64,680,937...64,711,239
Ensembl chr11:64,680,323...64,711,239
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|
G |
Fbxo40 |
F-box protein 40 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr11:63,794,452...63,812,697
Ensembl chr11:63,794,624...63,812,697
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G |
Gata2 |
GATA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
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G |
Golgb1 |
golgin B1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr11:63,843,179...63,900,665
Ensembl chr11:63,843,986...63,900,770
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G |
Gp9 |
glycoprotein IX (platelet) |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:120,235,539...120,236,874
Ensembl chr 4:120,235,421...120,237,110
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G |
Gtf2e1 |
general transcription factor IIE subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr11:63,182,073...63,215,349
Ensembl chr11:63,182,349...63,213,942
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G |
H1f10 |
H1.10 linker histone |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:120,440,515...120,444,705
Ensembl chr 4:120,440,870...120,441,448
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G |
H1f8 |
H1.8 linker histone |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:148,993,133...148,998,254
Ensembl chr 4:148,993,133...148,998,254
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G |
Hacd2 |
3-hydroxyacyl-CoA dehydratase 2 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:65,667,671...65,762,903
Ensembl chr11:65,670,281...65,762,889
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G |
Hcls1 |
hematopoietic cell specific Lyn substrate 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:63,817,482...63,840,943
Ensembl chr11:63,817,476...63,841,014
|
|
G |
Heg1 |
heart development protein with EGF-like domains 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:67,006,954...67,095,020
Ensembl chr11:66,957,190...67,095,051
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G |
Hgd |
homogentisate 1, 2-dioxygenase |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar OMIM RGD |
PMID:1001939 PMID:1360590 PMID:2114497 PMID:8782815 PMID:9154114 PMID:9529363 PMID:9536098 PMID:9630082 PMID:9674916 PMID:10205262 PMID:10340975 PMID:10465119 PMID:10482952 PMID:10594001 PMID:10819641 PMID:10970188 PMID:11001939 PMID:11017803 PMID:12051967 PMID:12114497 PMID:12501223 PMID:12872815 PMID:12872836 PMID:16085442 PMID:16199547 PMID:17576681 PMID:18945288 PMID:19096913 PMID:19306858 PMID:19862842 PMID:20301627 PMID:20462779 PMID:21437689 PMID:21720873 PMID:21822197 PMID:23353776 PMID:23430897 PMID:23519186 PMID:25233259 PMID:25525159 PMID:25681086 PMID:25741868 PMID:25804398 PMID:26960557 PMID:27026014 PMID:28492532 PMID:31927521 PMID:34008892 PMID:34686677 PMID:8782815 More...
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RGD:1599472 |
NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323
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G |
Hmces |
5-hydroxymethylcytosine binding, ES cell specific |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:120,392,812...120,415,616
Ensembl chr 4:120,366,542...120,415,616
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G |
Hspbap1 |
HSPB1 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:64,940,089...64,994,753
Ensembl chr11:64,940,091...64,994,756
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G |
Ift122 |
intraflagellar transport 122 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
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|
G |
Ildr1 |
immunoglobulin-like domain containing receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:64,085,774...64,118,760
Ensembl chr11:64,008,566...64,118,760
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G |
Iqcb1 |
IQ motif containing B1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
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G |
Isy1 |
ISY1 splicing factor homolog |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:120,276,535...120,297,227
Ensembl chr 4:120,276,292...120,297,188
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G |
Itgb5 |
integrin subunit beta 5 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:66,828,428...66,944,231
Ensembl chr11:66,829,285...66,944,472
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G |
Kalrn |
kalirin, RhoGEF kinase |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:66,198,155...66,803,166
Ensembl chr11:66,198,173...66,797,610
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G |
Kbtbd12 |
kelch repeat and BTB domain containing 12 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:121,014,636...121,088,701
Ensembl chr 4:121,016,257...121,088,443
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G |
Klf15 |
Kruppel-like factor 15 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:122,965,718...122,978,403
Ensembl chr 4:122,965,807...122,978,374
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G |
Kpna1 |
karyopherin subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr11:64,715,844...64,774,647
Ensembl chr11:64,717,563...64,774,623
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G |
LOC685964 |
hypothetical protein LOC685964 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:122,817,681...122,822,175
Ensembl chr 4:122,817,681...122,822,175
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G |
Mbd4 |
methyl-CpG binding domain 4 DNA glycosylase |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982
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G |
Mcm2 |
minichromosome maintenance complex component 2 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:121,346,434...121,360,962
Ensembl chr 4:121,346,434...121,360,847
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G |
Mgll |
monoglyceride lipase |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:121,192,187...121,294,187
Ensembl chr 4:121,192,195...121,294,179
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G |
Mix23 |
mitochondrial matrix import factor 23 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:64,660,711...64,681,000
Ensembl chr11:64,660,711...64,681,000
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G |
Mrpl3 |
mitochondrial ribosomal protein L3 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 8:105,670,184...105,693,544
Ensembl chr 8:105,670,184...105,693,544
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G |
Muc13 |
mucin 13, cell surface associated |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:66,957,208...66,980,264
Ensembl chr11:66,960,595...66,984,727
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G |
Mylk |
myosin light chain kinase |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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G |
Nek11 |
NIMA-related kinase 11 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 8:105,767,230...106,026,676
Ensembl chr 8:105,770,548...106,026,676
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G |
Nphp3 |
nephrocystin 3 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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G |
Nudt16 |
nudix hydrolase 16 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 8:105,739,927...105,741,982
Ensembl chr 8:105,739,623...105,741,998
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G |
Osbpl11 |
oxysterol binding protein-like 11 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:67,533,669...67,616,795
Ensembl chr11:67,533,672...67,596,444
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G |
Parp14 |
poly (ADP-ribose) polymerase family, member 14 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:64,902,848...64,934,916
Ensembl chr11:64,902,785...64,934,916
|
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G |
Parp9 |
poly (ADP-ribose) polymerase family, member 9 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:64,780,977...64,814,995
Ensembl chr11:64,780,981...64,815,455
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G |
Pdia5 |
protein disulfide isomerase family A, member 5 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:65,272,152...65,359,087
Ensembl chr11:65,272,155...65,359,084
|
|
G |
Pik3r4 |
phosphoinositide-3-kinase, regulatory subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 8:106,267,908...106,316,585
Ensembl chr 8:106,267,954...106,316,584
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G |
Plxna1 |
plexin A1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:121,737,934...121,782,901
Ensembl chr 4:121,737,945...122,024,196
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G |
Plxnd1 |
plexin D1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:149,002,784...149,043,097
Ensembl chr 4:149,002,784...149,043,244
|
|
G |
Podxl2 |
podocalyxin-like 2 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:121,306,224...121,338,070
Ensembl chr 4:121,306,224...121,338,112
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|
G |
Polq |
DNA polymerase theta |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:63,673,796...63,775,905
Ensembl chr11:63,673,816...63,775,878
|
|
G |
Rab43 |
RAB43, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:120,249,878...120,269,174
Ensembl chr 4:120,249,879...120,269,174
|
|
G |
Rab7a |
RAB7A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:120,461,966...120,510,756
Ensembl chr 4:120,461,963...120,506,889
|
|
G |
Rabl3 |
RAB, member of RAS oncogene family-like 3 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:63,153,281...63,182,240
Ensembl chr11:63,152,792...63,182,671
|
|
G |
Rho |
rhodopsin |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
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G |
Ropn1 |
rhophilin associated tail protein 1 |
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ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr11:66,097,854...66,127,148
Ensembl chr11:66,097,856...66,127,148
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G |
Rpn1 |
ribophorin I |
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ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:120,543,667...120,565,069
Ensembl chr 4:120,543,667...120,565,069
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G |
Ruvbl1 |
RuvB-like AAA ATPase 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:120,932,486...120,967,400
Ensembl chr 4:120,932,417...121,029,384
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G |
Sec22a |
SEC22 homolog A, vesicle trafficking protein |
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ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr11:65,402,583...65,462,329
Ensembl chr11:65,402,684...65,462,319
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G |
Sec61a1 |
SEC61 translocon subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925
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G |
Sema5b |
semaphorin 5B |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr11:65,102,031...65,225,456
Ensembl chr11:65,102,031...65,225,311
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G |
Slc12a8 |
solute carrier family 12, member 8 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr11:67,116,876...67,266,548
Ensembl chr11:67,116,877...67,266,834
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G |
Slc15a2 |
solute carrier family 15 member 2 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr11:64,014,182...64,043,228
Ensembl chr11:64,014,182...64,043,225
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G |
Slc41a3 |
solute carrier family 41, member 3 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:123,109,555...123,154,766
Ensembl chr 4:123,112,748...123,154,766
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G |
Slc49a4 |
solute carrier family 49 member 4 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr11:64,995,629...65,068,929
Ensembl chr11:64,995,679...65,068,926
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G |
Snx4 |
sorting nexin 4 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr11:67,460,872...67,518,143
Ensembl chr11:67,460,870...67,518,174
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G |
Stxbp5l |
syntaxin binding protein 5L |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr11:63,334,667...63,654,270
Ensembl chr11:63,334,667...63,657,014
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G |
Tf |
transferrin |
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ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
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G |
Tmcc1 |
transmembrane and coiled-coil domain family 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:149,069,252...149,239,585
Ensembl chr 4:149,069,260...149,239,620
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G |
Tmem108 |
transmembrane protein 108 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 8:104,066,081...104,360,172
Ensembl chr 8:104,066,078...104,360,094
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G |
Topbp1 |
DNA topoisomerase II binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 8:103,887,805...103,931,662
Ensembl chr 8:103,887,865...103,931,674
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G |
Tpra1 |
transmembrane protein adipocyte associated 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:121,364,093...121,375,275
Ensembl chr 4:121,364,091...121,375,269
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G |
Trh |
thyrotropin releasing hormone |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637
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G |
Txnrd3 |
thioredoxin reductase 3 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:122,072,548...122,112,493
Ensembl chr 4:122,072,548...122,112,491
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G |
Uba5 |
ubiquitin-like modifier activating enzyme 5 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 8:104,665,241...104,680,850
Ensembl chr 8:104,665,046...104,680,894
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G |
Umps |
uridine monophosphate synthetase |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
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G |
Uroc1 |
urocanate hydratase 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:122,844,933...122,876,584
Ensembl chr 4:122,844,926...122,876,591
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G |
Wdr5b |
WD repeat domain 5B |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr11:64,710,945...64,712,804
Ensembl chr11:64,710,355...64,712,807
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G |
Zfp148 |
zinc finger protein 148 |
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ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr11:67,276,455...67,385,803
Ensembl chr11:67,281,707...67,385,772
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G |
Zxdc |
ZXD family zinc finger C |
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ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
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NCBI chr 4:122,882,389...122,914,486
Ensembl chr 4:122,882,336...122,916,496
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G |
Acy1 |
aminoacylase 1 |
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ISO |
ClinVar Annotator: match by term: Aminoacylase 1 deficiency |
OMIM ClinVar |
PMID:16274666 PMID:16465618 PMID:17562838 PMID:20480396 PMID:21414403 PMID:24117009 PMID:24997716 PMID:25741868 PMID:26686503 PMID:28492532 PMID:29653693 More...
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NCBI chr 8:107,072,354...107,077,756
Ensembl chr 8:107,072,358...107,077,682
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G |
Zfp335 |
zinc finger protein 335 |
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ISO |
ClinVar Annotator: match by term: Deficiency of the aminoacylase-1 enzyme |
ClinVar |
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NCBI chr 3:153,618,587...153,648,213
Ensembl chr 3:153,627,467...153,647,054
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G |
Asl |
argininosuccinate lyase |
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ISO |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Argininosuccinate lyase deficiency | ClinVar Annotator: match by term: Argininosuccinic Aciduria protein:decreased expression:liver,erythrocyte,fibroblast, amniocyte CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:203629 PMID:705937 PMID:1705937 PMID:2263616 PMID:3106853 PMID:9045711 PMID:9256435 PMID:9536098 PMID:9686346 PMID:10896281 PMID:11698398 PMID:11747432 PMID:11747433 PMID:12384776 PMID:12408190 PMID:15273245 PMID:16199547 PMID:16435180 PMID:16941645 PMID:17326097 PMID:17551924 PMID:17576681 PMID:18042262 PMID:18616627 PMID:19224584 PMID:19703900 PMID:20236848 PMID:20298553 PMID:21667091 PMID:21710918 PMID:21744316 PMID:22081021 PMID:22231378 PMID:22541557 PMID:23430928 PMID:24033266 PMID:24136197 PMID:24166829 PMID:24516753 PMID:24927999 PMID:25087612 PMID:25433810 PMID:25525159 PMID:25741868 PMID:25778938 PMID:26661037 PMID:26745957 PMID:26843370 PMID:27515243 PMID:28251416 PMID:28492532 PMID:28600779 PMID:29326055 PMID:29493581 PMID:29773863 PMID:30285816 PMID:31030429 PMID:31056765 PMID:31156699 PMID:31183366 PMID:31709144 PMID:31943503 PMID:31990680 PMID:33514801 PMID:33851512 PMID:12408190 PMID:3440446 More...
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RGD:1302509, RGD:13628399 |
NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662
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G |
Crcp |
CGRP receptor component |
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ISO |
ClinVar Annotator: match by term: Argininosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr12:26,623,968...26,659,756
Ensembl chr12:26,623,976...26,768,225
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G |
Gusb |
glucuronidase, beta |
|
ISO |
ClinVar Annotator: match by term: Argininosuccinate lyase deficiency | ClinVar Annotator: match by term: Argininosuccinic Aciduria |
ClinVar |
PMID:2263616 PMID:19224584 PMID:24166829 PMID:28492532 |
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NCBI chr12:26,701,191...26,714,718
Ensembl chr12:26,697,951...26,726,905
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G |
Kctd7 |
potassium channel tetramerization domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Argininosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr12:26,520,969...26,532,327
Ensembl chr12:26,523,142...26,532,138
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G |
Rabgef1 |
RAB guanine nucleotide exchange factor 1 |
|
ISO |
ClinVar Annotator: match by term: Argininosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr12:26,459,190...26,503,790
Ensembl chr12:26,460,175...26,503,744
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G |
Sbds |
Sbds, ribosome maturation factor |
|
ISO |
ClinVar Annotator: match by term: Argininosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649
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G |
Tmem248 |
transmembrane protein 248 |
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ISO |
ClinVar Annotator: match by term: Argininosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr12:26,430,775...26,457,105
Ensembl chr12:26,432,953...26,457,105
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G |
Tpst1 |
tyrosylprotein sulfotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Argininosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr12:26,544,536...26,605,706
Ensembl chr12:26,544,536...26,605,704
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G |
Ddc |
dopa decarboxylase |
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ISO |
ClinVar Annotator: match by term: Deficiency of aromatic-L-amino-acid decarboxylase |
OMIM ClinVar |
PMID:1357595 PMID:9536098 PMID:9789536 PMID:15079002 PMID:16199547 PMID:17240182 PMID:17533144 PMID:17576681 PMID:18567514 PMID:20505134 PMID:22143761 PMID:23321058 PMID:23430870 PMID:24788355 PMID:24865461 PMID:25001633 PMID:25741868 PMID:26994895 PMID:28492532 PMID:28556607 PMID:28856607 PMID:28924877 PMID:28973165 PMID:29356298 PMID:29851841 PMID:30144970 PMID:30952622 PMID:31104889 PMID:31849064 PMID:31918669 PMID:31975548 PMID:32369189 More...
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NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208
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G |
Asns |
asparagine synthetase (glutamine-hydrolyzing) |
|
ISO |
ClinVar Annotator: match by term: ASNS DEFICIENCY | ClinVar Annotator: match by term: Asparagine synthetase deficiency |
OMIM ClinVar |
PMID:24139043 PMID:25741868 PMID:25758715 PMID:26395554 PMID:27422383 PMID:27469131 PMID:27522229 PMID:27711071 PMID:28492532 PMID:28776279 PMID:29279279 PMID:29375865 PMID:29405484 PMID:30057589 PMID:30214071 PMID:30978478 PMID:32255274 PMID:34906502 More...
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NCBI chr 4:35,784,995...35,803,474
Ensembl chr 4:35,785,237...35,803,423
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G |
Car2 |
carbonic anhydrase 2 |
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ISO |
ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis |
OMIM ClinVar |
PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 PMID:7627193 PMID:8127074 PMID:8128957 PMID:8834238 PMID:12566520 PMID:15300855 PMID:18060825 PMID:25741868 PMID:28492532 More...
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NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818
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G |
Dnase1l1 |
deoxyribonuclease 1-like 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:1719174 PMID:9345098 PMID:9536098 PMID:11238270 PMID:15793838 PMID:16199547 PMID:16427346 PMID:17576681 PMID:19396829 PMID:22382802 PMID:22410210 PMID:23409742 PMID:24033266 PMID:25652404 PMID:25741868 PMID:26845103 PMID:28492532 PMID:31333075 PMID:31568572 More...
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NCBI chr X:152,056,942...152,065,518
Ensembl chr X:152,056,942...152,065,518
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G |
Fkbp1a |
FKBP prolyl isomerase 1A |
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ISS |
OMIM:302060 |
MouseDO |
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NCBI chr 3:140,040,359...140,060,107
Ensembl chr 3:140,040,278...140,060,743
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G |
Mest |
mesoderm specific transcript |
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ISS |
OMIM:302060 |
MouseDO |
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NCBI chr 4:59,354,445...59,364,919
Ensembl chr 4:59,354,447...59,366,145
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G |
Tafazzin |
tafazzin, phospholipid-lysophospholipid transacylase |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1719174 PMID:1998334 PMID:4685904 PMID:6142097 PMID:7616547 PMID:8042670 PMID:8434619 PMID:8630491 PMID:9332651 PMID:9345098 PMID:9382096 PMID:9382097 PMID:9536098 PMID:10484795 PMID:11238270 PMID:11735032 PMID:12032589 PMID:12468278 PMID:12930833 PMID:14654353 PMID:15098233 PMID:15793838 PMID:16199547 PMID:16427346 PMID:16548007 PMID:16873891 PMID:16880272 PMID:17394203 PMID:17576681 PMID:18430085 PMID:19396829 PMID:19438153 PMID:19619503 PMID:19648820 PMID:19700766 PMID:20530761 PMID:20812380 PMID:21300850 PMID:22382802 PMID:22410210 PMID:23031367 PMID:23206890 PMID:23361305 PMID:23409742 PMID:23656970 PMID:24033266 PMID:24342716 PMID:24887148 PMID:25185984 PMID:25652404 PMID:25741868 PMID:25941633 PMID:26350513 PMID:26724946 PMID:26845103 PMID:28123175 PMID:28183324 PMID:28492532 PMID:29077208 PMID:29089047 PMID:29247119 PMID:31333075 PMID:31568572 PMID:34906502 More...
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NCBI chr X:152,065,539...152,076,178
Ensembl chr X:152,065,609...152,074,001
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G |
Agxt2 |
alanine-glyoxylate aminotransferase 2 |
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ISO |
ClinVar Annotator: match by term: Beta-aminoisobutyric acid, urinary excretion of |
ClinVar OMIM |
PMID:21572414 |
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NCBI chr 2:59,336,252...59,377,664
Ensembl chr 2:59,336,283...59,377,926
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G |
Hibch |
3-hydroxyisobutyryl-CoA hydrolase |
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ISO |
ClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiency | ClinVar Annotator: match by term: Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency |
OMIM ClinVar |
PMID:7122152 PMID:16199547 PMID:17160907 PMID:24033266 PMID:24299452 PMID:25251209 PMID:25591832 PMID:25741868 PMID:26026795 PMID:26163321 PMID:27435318 PMID:27896122 PMID:28454995 PMID:28492532 PMID:30111474 PMID:33762937 More...
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NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824
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G |
Acat1 |
acetyl-CoA acetyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase |
OMIM ClinVar |
PMID:1346617 PMID:1373235 PMID:1627655 PMID:1715688 PMID:4690360 PMID:7173255 PMID:7728148 PMID:7728155 PMID:7749408 PMID:7907600 PMID:8103405 PMID:9536098 PMID:9700610 PMID:9744475 PMID:11161836 PMID:11161837 PMID:11914035 PMID:12754704 PMID:14518824 PMID:15128923 PMID:15877211 PMID:16199547 PMID:17236799 PMID:17576681 PMID:18511318 PMID:19763152 PMID:20046049 PMID:20156697 PMID:20157782 PMID:20307669 PMID:20488739 PMID:21669895 PMID:22406018 PMID:23430882 PMID:23958592 PMID:24516753 PMID:24517888 PMID:25559898 PMID:25640679 PMID:25741868 PMID:27264805 PMID:27748876 PMID:27928777 PMID:28220263 PMID:28255778 PMID:28361105 PMID:28393214 PMID:28492532 PMID:28689740 PMID:28726122 PMID:28875337 PMID:29624230 PMID:30393371 PMID:30835345 PMID:31268215 PMID:34001203 PMID:34298581 More...
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NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
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G |
Acat2 |
acetyl-CoA acetyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase |
ClinVar |
PMID:25741868 PMID:31268215 |
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NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
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G |
Gch1 |
GTP cyclohydrolase 1 |
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ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:25741868 |
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NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
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G |
Pah |
phenylalanine hydroxylase |
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ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A | ClinVar Annotator: match by term: PTS Deficiency |
ClinVar |
PMID:7981714 PMID:8088845 PMID:8268925 PMID:8533759 PMID:8830172 PMID:8981952 PMID:9012412 PMID:9298832 PMID:9399896 PMID:9429153 PMID:9634518 PMID:10234516 PMID:10394930 PMID:10598814 PMID:10693064 PMID:10980574 PMID:11385716 PMID:11708866 PMID:12501224 PMID:12655553 PMID:14722928 PMID:15464430 PMID:16051511 PMID:16198137 PMID:16290003 PMID:17096675 PMID:17924342 PMID:17935162 PMID:18294361 PMID:18299955 PMID:21147011 PMID:21307867 PMID:21953985 PMID:22698810 PMID:22917871 PMID:23357515 PMID:23430918 PMID:23500595 PMID:23690520 PMID:23792259 PMID:23842451 PMID:23932990 PMID:24350308 PMID:24368688 PMID:25087612 PMID:25333069 PMID:25741868 PMID:26467025 PMID:26542770 PMID:26600521 PMID:26666653 PMID:26982749 PMID:27121329 PMID:27243974 PMID:27620137 PMID:28492532 PMID:28982351 PMID:29288420 PMID:29499199 PMID:29997390 PMID:30037505 PMID:30311390 PMID:30648773 PMID:31355225 PMID:31623983 PMID:32668217 PMID:33677757 More...
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NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130
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G |
Pts |
6-pyruvoyl-tetrahydropterin synthase |
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ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
OMIM ClinVar |
PMID:3297709 PMID:7493990 PMID:7563095 PMID:7698774 PMID:8178819 PMID:8707300 PMID:9159737 PMID:9222757 PMID:9450907 PMID:9536098 PMID:10089284 PMID:10220141 PMID:10319579 PMID:10585341 PMID:10874306 PMID:11388593 PMID:11438997 PMID:11694255 PMID:11916314 PMID:16199547 PMID:16850690 PMID:16917893 PMID:17001642 PMID:17160954 PMID:17576681 PMID:18060820 PMID:18505119 PMID:19280650 PMID:19350512 PMID:19830588 PMID:20059486 PMID:21933604 PMID:22237589 PMID:23138986 PMID:23942198 PMID:25087612 PMID:25304915 PMID:25418970 PMID:25456745 PMID:25525159 PMID:25741868 PMID:25758715 PMID:26830550 PMID:27243974 PMID:27246466 PMID:27629047 PMID:28057123 PMID:28378820 PMID:28492532 PMID:28915855 PMID:29499199 PMID:29685341 PMID:30001213 PMID:30109838 PMID:30853107 PMID:30926181 PMID:31332730 PMID:33234470 PMID:33822819 More...
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NCBI chr 8:50,870,838...50,877,878
Ensembl chr 8:50,870,841...50,877,869
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G |
Qdpr |
quinoid dihydropteridine reductase |
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ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:25741868 |
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NCBI chr14:65,670,251...65,683,853
Ensembl chr14:65,670,131...65,683,854
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G |
Tex12 |
testis expressed 12 |
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ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:7563095 PMID:19830588 PMID:20059486 PMID:25741868 PMID:28492532 PMID:31332730 More...
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NCBI chr 8:50,908,161...50,913,205
Ensembl chr 8:50,909,052...50,913,217
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G |
Gch1 |
GTP cyclohydrolase 1 |
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ISO |
ClinVar Annotator: match by term: GTP cyclohydrolase I deficiency | ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-Deficient, B |
OMIM ClinVar |
PMID:1530300 PMID:7730309 PMID:7869202 PMID:8852666 PMID:9328244 PMID:9536098 PMID:9667588 PMID:9886460 PMID:12391354 PMID:12707079 PMID:15303002 PMID:15389992 PMID:17044972 PMID:17576681 PMID:17898029 PMID:18044725 PMID:19332422 PMID:19491146 PMID:23430498 PMID:24033266 PMID:24993959 PMID:25125585 PMID:25398234 PMID:25416181 PMID:25497597 PMID:25741868 PMID:26230973 PMID:26467025 PMID:27185167 PMID:27217339 PMID:27246466 PMID:27313105 PMID:28492532 PMID:29471552 PMID:30314816 PMID:30894892 More...
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NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
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G |
Btd |
biotinidase |
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ISO |
ClinVar Annotator: match by term: Biotinidase deficiency |
OMIM ClinVar |
PMID:88555 PMID:1668630 PMID:7550325 PMID:9099842 PMID:9158148 PMID:9232193 PMID:9375914 PMID:9396567 PMID:9506660 PMID:9536098 PMID:9654207 PMID:9705240 PMID:10206677 PMID:10394193 PMID:10400129 PMID:10655158 PMID:10801053 PMID:10801060 PMID:11313766 PMID:11380987 PMID:11668630 PMID:11865279 PMID:12227467 PMID:12359137 PMID:12618081 PMID:14628140 PMID:14707518 PMID:15059618 PMID:15060693 PMID:15776412 PMID:16199547 PMID:16435182 PMID:17185019 PMID:17382128 PMID:17576681 PMID:18645204 PMID:18845537 PMID:19728141 PMID:19757147 PMID:20083419 PMID:20224900 PMID:20301497 PMID:20539236 PMID:20549359 PMID:20556795 PMID:20981092 PMID:21228398 PMID:21752405 PMID:21907891 PMID:22011816 PMID:22106832 PMID:22698809 PMID:22863189 PMID:22975760 PMID:22995991 PMID:23644139 PMID:23971085 PMID:24033266 PMID:24066991 PMID:24516753 PMID:24525934 PMID:24797656 PMID:24932929 PMID:25087612 PMID:25144890 PMID:25174816 PMID:25333069 PMID:25423671 PMID:25741868 PMID:25754625 PMID:25967232 PMID:25972378 PMID:26334177 PMID:26361991 PMID:26467025 PMID:26589311 PMID:26635394 PMID:26656798 PMID:26810761 PMID:27207447 PMID:27329734 PMID:27378695 PMID:27533158 PMID:27535533 PMID:27625817 PMID:27629047 PMID:27657684 PMID:27760515 PMID:27845546 PMID:28220409 PMID:28492532 PMID:28498829 PMID:28682309 PMID:28971021 PMID:29353266 PMID:29359854 PMID:29728376 PMID:29995633 PMID:30616616 PMID:30912303 PMID:31035122 PMID:31208052 PMID:31337602 PMID:31973013 PMID:31980526 PMID:33189081 PMID:33223529 PMID:33312878 More...
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NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945
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G |
Armc5 |
armadillo repeat containing 5 |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,820,141...182,826,913
Ensembl chr 1:182,820,141...182,826,907
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G |
Bckdk |
branched chain ketoacid dehydrogenase kinase |
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ISO IAGP |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency DNA:missense mutation:cds:G369E (rat) |
OMIM ClinVar RGD |
PMID:9536098 PMID:17576681 PMID:22956686 PMID:25741868 PMID:26467025 PMID:28492532 PMID:27472223 More...
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RGD:39131293 |
NCBI chr 1:182,515,335...182,520,007
Ensembl chr 1:182,515,327...182,536,633
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G |
Bcl7c |
BAF chromatin remodeling complex subunit BCL7C |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,277,163...182,324,274
Ensembl chr 1:182,260,164...182,324,163
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G |
Cfap119 |
cilia and flagella associated protein 119 |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,197,171...182,216,936
Ensembl chr 1:182,192,947...182,202,338
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G |
Cox6a2 |
cytochrome c oxidase subunit 6A2 |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,788,528...182,790,746
Ensembl chr 1:182,788,528...182,789,274
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G |
Ctf1 |
cardiotrophin 1 |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335
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G |
Fbrs |
fibrosin |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,090,741...182,104,026
Ensembl chr 1:182,089,844...182,103,828
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G |
Fbxl19 |
F-box and leucine-rich repeat protein 19 |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,356,899...182,380,839
Ensembl chr 1:182,360,830...182,380,083
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G |
Fus |
Fus RNA binding protein |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414
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G |
Hsd3b7 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,411,836...182,415,447
Ensembl chr 1:182,412,151...182,415,442
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G |
Itgad |
integrin subunit alpha D |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,759,785...182,788,422
Ensembl chr 1:182,759,740...182,788,161
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G |
Itgam |
integrin subunit alpha M |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,659,047...182,709,495
Ensembl chr 1:182,659,000...182,709,503
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G |
Itgax |
integrin subunit alpha X |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,709,653...182,740,709
Ensembl chr 1:182,719,609...182,740,698
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G |
Kat8 |
lysine acetyltransferase 8 |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,524,355...182,536,638
Ensembl chr 1:182,515,327...182,536,633
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G |
Orai3 |
ORAI calcium release-activated calcium modulator 3 |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,381,196...182,386,055
Ensembl chr 1:182,344,293...182,386,052
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G |
Phkg2 |
phosphorylase kinase catalytic subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,184,362...182,197,124
Ensembl chr 1:182,184,650...182,197,124
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G |
Prr14 |
proline rich 14 |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,083,836...182,089,330
Ensembl chr 1:182,084,126...182,089,317
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G |
Prss36 |
serine protease 36 |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,543,085...182,561,141
Ensembl chr 1:182,543,085...182,559,280
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G |
Prss53 |
serine protease 53 |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,494,944...182,501,607
Ensembl chr 1:182,494,955...182,500,115
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G |
Prss8 |
serine protease 8 |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,536,229...182,540,745
Ensembl chr 1:182,536,229...182,540,815
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G |
Pycard |
PYD and CARD domain containing |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955
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G |
Rnf40 |
ring finger protein 40 |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,202,475...182,217,899
Ensembl chr 1:182,202,600...182,217,241
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G |
Rusf1 |
RUS family member 1 |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,852,257...182,881,652
Ensembl chr 1:182,852,262...182,880,732
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G |
Setd1a |
SET domain containing 1A, histone lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,386,197...182,411,695
Ensembl chr 1:182,388,060...182,411,090
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G |
Slc5a2 |
solute carrier family 5 member 2 |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,847,185...182,853,309
Ensembl chr 1:182,847,106...182,853,306
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G |
Srcap |
Snf2-related CREBBP activator protein |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,123,562...182,172,643
Ensembl chr 1:182,118,416...182,176,610
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G |
Stx1b |
syntaxin 1B |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,415,544...182,434,385
Ensembl chr 1:182,415,546...182,441,280
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G |
Stx4 |
syntaxin 4 |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,451,108...182,459,701
Ensembl chr 1:182,451,117...182,459,979
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G |
Tgfb1i1 |
transforming growth factor beta 1 induced transcript 1 |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,828,553...182,835,465
Ensembl chr 1:182,828,544...182,837,080
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G |
Trim72 |
tripartite motif containing 72 |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,613,753...182,621,613
Ensembl chr 1:182,613,712...182,621,606
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G |
Vkorc1 |
vitamin K epoxide reductase complex, subunit 1 |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008
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G |
Zfp629 |
zinc finger protein 629 |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,217,499...182,258,585
Ensembl chr 1:182,210,935...182,230,016
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G |
Zfp646 |
zinc finger protein 646 |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,485,009...182,494,961
Ensembl chr 1:182,485,949...182,494,731
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G |
Zfp668 |
zinc finger protein 668 |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,474,633...182,484,957
Ensembl chr 1:182,474,633...182,492,878
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G |
Zfp688 |
zinc finger protein 688 |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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Ensembl chr 1:182,039,931...182,043,103
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G |
Zfp689 |
zinc finger protein 689 |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,065,885...182,074,343
Ensembl chr 1:182,065,826...182,076,679
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G |
Zfp764 |
zinc finger protein 764 |
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ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 1:182,002,868...182,013,202
Ensembl chr 1:182,009,896...182,013,252
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G |
Oca2 |
OCA2 melanosomal transmembrane protein |
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ISO |
DNA:deletion:exon:699_859del (human) ClinVar Annotator: match by term: Brown oculocutaneous albinism |
ClinVar RGD |
PMID:7920637 PMID:11179026 PMID:17767372 PMID:11179026 |
RGD:9491819 |
NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
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G |
Maoa |
monoamine oxidase A |
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ISO |
ClinVar Annotator: match by term: Brunner syndrome | ClinVar Annotator: match by term: Monoamine oxidase A deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8211186 PMID:9536098 PMID:11700166 PMID:17576681 PMID:24169519 PMID:25741868 PMID:25807999 PMID:28492532 More...
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NCBI chr X:6,032,172...6,098,308
Ensembl chr X:6,030,795...6,099,593
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G |
Cps1 |
carbamoyl-phosphate synthase 1 |
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ISO |
CPS I deficiency, OMIM:237300, DNA:splice-site mutation ClinVar Annotator: match by term: Congenital hyperammonemia, type I CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:8486760 PMID:9536098 PMID:9686343 PMID:9711878 PMID:11388595 PMID:11474210 PMID:12655559 PMID:12955727 PMID:15050969 PMID:15164414 PMID:15617192 PMID:15876373 PMID:16199547 PMID:16737834 PMID:17310273 PMID:17357079 PMID:17576681 PMID:18414213 PMID:18666241 PMID:19167850 PMID:19309799 PMID:19793055 PMID:20578160 PMID:20800523 PMID:20855223 PMID:21068339 PMID:21108709 PMID:21120950 PMID:22173106 PMID:22494545 PMID:22575620 PMID:23649895 PMID:24813853 PMID:25640679 PMID:25741868 PMID:26059772 PMID:26440671 PMID:26592762 PMID:27150549 PMID:27290639 PMID:27436290 PMID:28007335 PMID:28444906 PMID:28492532 PMID:28526534 PMID:28658158 PMID:29888426 PMID:30285816 PMID:31392117 PMID:31435610 PMID:31507628 PMID:31749211 PMID:32154057 PMID:32280145 PMID:33309754 PMID:33489762 PMID:33551825 PMID:33851512 PMID:33924653 PMID:34298581 PMID:8486760 More...
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RGD:1600715 |
NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
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G |
Cpn1 |
carboxypeptidase N subunit 1 |
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ISO |
ClinVar Annotator: match by term: Anaphylotoxin inactivator deficiency |
OMIM ClinVar |
PMID:7437116 PMID:12560874 PMID:24033266 |
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NCBI chr 1:242,844,575...242,873,465
Ensembl chr 1:242,844,212...242,873,465
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G |
Abca7 |
ATP binding cassette subfamily A member 7 |
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ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425
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G |
Apc2 |
APC regulator of WNT signaling pathway 2 |
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ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,392,336...9,414,364
Ensembl chr 7:9,392,336...9,414,310
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G |
Arhgap45 |
Rho GTPase activating protein 45 |
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ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,674,873...9,690,286
Ensembl chr 7:9,674,897...9,690,268
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G |
Arid3a |
AT-rich interaction domain 3A |
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ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,755,291...9,781,260
Ensembl chr 7:9,755,294...9,780,599
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G |
Atp5f1d |
ATP synthase F1 subunit delta |
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ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929
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G |
Cbarp |
CACN subunit beta associated regulatory protein |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,566,637...9,575,204
Ensembl chr 7:9,566,364...9,575,204
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G |
Cfd |
complement factor D |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053
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G |
Cirbp |
cold inducible RNA binding protein |
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ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,533,857...9,538,899
Ensembl chr 7:9,424,178...9,538,818
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G |
Cnn2 |
calponin 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,712,505...9,719,711
Ensembl chr 7:9,712,516...9,719,656
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G |
Dazap1 |
DAZ associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,423,673...9,448,116
Ensembl chr 7:9,424,178...9,538,818
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G |
Efna2 |
ephrin A2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,515,635...9,528,071
Ensembl chr 7:9,516,429...9,527,061
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G |
Elane |
elastase, neutrophil expressed |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
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G |
Fam174c |
family with sequence similarity 174 member C |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,531,995...9,533,705
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G |
Fgf22 |
fibroblast growth factor 22 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,947,632...9,956,918
Ensembl chr 7:9,948,071...9,950,486
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G |
Fstl3 |
follistatin like 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,924,670...9,929,195
Ensembl chr 7:9,923,576...9,939,639
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G |
Gamt |
guanidinoacetate N-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:2476685 PMID:8651275 PMID:9386672 PMID:9536098 PMID:11136556 PMID:11978605 PMID:12468279 PMID:12557293 PMID:15108290 PMID:15651030 PMID:16169544 PMID:16199547 PMID:16855203 PMID:17101918 PMID:17171576 PMID:17336114 PMID:17576681 PMID:19027335 PMID:19288536 PMID:19388150 PMID:19892372 PMID:21140503 PMID:22019491 PMID:23234264 PMID:23583224 PMID:23660394 PMID:24071436 PMID:24268530 PMID:24415674 PMID:25741868 PMID:26003046 PMID:26319512 PMID:26467025 PMID:27650626 PMID:28438604 PMID:28492532 PMID:29506905 PMID:29655203 PMID:31130284 PMID:32214227 More...
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NCBI chr 7:9,448,590...9,451,778
Ensembl chr 7:9,448,628...9,451,778
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G |
Gpx4 |
glutathione peroxidase 4 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
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G |
Grin3b |
glutamate ionotropic receptor NMDA type subunit 3B |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,730,861...9,737,183
Ensembl chr 7:9,730,862...9,737,183
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G |
Hcn2 |
hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,969,801...9,988,839
Ensembl chr 7:9,970,368...9,988,841
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G |
Kiss1r |
KISS1 receptor |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
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G |
Med16 |
mediator complex subunit 16 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,798,641...9,811,172
Ensembl chr 7:9,798,668...9,811,172
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G |
Midn |
midnolin |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,548,100...9,559,605
Ensembl chr 7:9,549,650...9,559,752
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G |
Misp |
mitotic spindle positioning |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,870,390...9,886,541
Ensembl chr 7:9,870,444...9,886,541
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G |
Ndufs7 |
NADH:ubiquinone oxidoreductase core subunit S7 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:12468279 PMID:15108290 PMID:25741868 PMID:28492532 |
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NCBI chr 7:9,452,556...9,460,135
Ensembl chr 7:9,450,392...9,460,195
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G |
Palm |
paralemmin |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,886,634...9,912,389
Ensembl chr 7:9,886,643...9,912,555
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G |
Pcsk4 |
proprotein convertase subtilisin/kexin type 4 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,381,366...9,389,589
Ensembl chr 7:9,381,361...9,389,585
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G |
Plppr3 |
phospholipid phosphatase related 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,831,162...9,842,434
Ensembl chr 7:9,831,162...9,845,296
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G |
Polr2e |
RNA polymerase II, I and III subunit E |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,666,695...9,670,638
Ensembl chr 7:9,666,716...9,670,643
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G |
Polrmt |
RNA polymerase mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,959,532...9,969,791
Ensembl chr 7:9,959,576...9,969,791
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G |
Prss57 |
serine protease 57 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,915,667...9,922,996
Ensembl chr 7:9,917,484...9,922,922
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G |
Prtn3 |
proteinase 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,822,123...9,831,300
Ensembl chr 7:9,822,122...9,831,944
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G |
Ptbp1 |
polypyrimidine tract binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,842,574...9,852,332
Ensembl chr 7:9,842,574...9,852,397
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G |
Pwwp3a |
PWWP domain containing 3A, DNA repair factor |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,465,180...9,482,053
Ensembl chr 7:9,465,195...9,481,966
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G |
R3hdm4 |
R3H domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,790,401...9,797,512
Ensembl chr 7:9,790,322...9,797,512
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G |
Reep6 |
receptor accessory protein 6 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,373,927...9,380,845
Ensembl chr 7:9,373,927...9,380,597
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G |
RGD1359127 |
similar to RIKEN cDNA 2310011J03 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,390,255...9,392,383
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G |
Rnf126 |
ring finger protein 126 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,939,359...9,946,963
Ensembl chr 7:9,938,229...9,946,738
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G |
Rps15 |
ribosomal protein S15 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,416,003...9,417,442
Ensembl chr 7:9,416,004...9,417,450
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G |
Sbno2 |
strawberry notch homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,605,572...9,649,529
Ensembl chr 7:9,605,627...9,649,527
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G |
Stk11 |
serine/threonine kinase 11 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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G |
Tmem259 |
transmembrane protein 259 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,724,196...9,730,932
Ensembl chr 7:9,722,485...9,730,932
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G |
Wdr18 |
WD repeat domain 18 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,740,245...9,748,041
Ensembl chr 7:9,739,604...9,748,070
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G |
Actn2 |
actinin alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
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G |
Arid4b |
AT-rich interaction domain 4B |
|
ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr17:51,138,419...51,262,956
Ensembl chr17:51,138,535...51,262,906
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G |
B3galnt2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
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G |
Coa6 |
cytochrome c oxidase assembly factor 6 |
|
ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr19:54,395,682...54,398,918
Ensembl chr19:54,395,742...54,399,407
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G |
Edaradd |
EDAR-associated death domain |
|
ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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G |
Ero1b |
endoplasmic reticulum oxidoreductase 1 beta |
|
ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr17:85,861,086...86,003,244
Ensembl chr17:85,929,618...86,003,398
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G |
Ggps1 |
geranylgeranyl diphosphate synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220
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G |
Gng4 |
G protein subunit gamma 4 |
|
ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr17:86,448,708...86,497,560
Ensembl chr17:86,449,022...86,495,254
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G |
Gpr137b |
G protein-coupled receptor 137B |
|
ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr17:86,003,630...86,041,841
Ensembl chr17:85,966,921...86,041,835
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G |
Heatr1 |
HEAT repeat containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr17:58,051,700...58,093,895
Ensembl chr17:58,051,700...58,093,948
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G |
Irf2bp2 |
interferon regulatory factor 2 binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr19:54,559,409...54,564,714
Ensembl chr19:54,560,128...54,566,642
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G |
Lgals8 |
galectin 8 |
|
ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr17:58,024,652...58,052,764
Ensembl chr17:58,028,105...58,052,764
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G |
Lyst |
lysosomal trafficking regulator |
|
IAGP ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar OMIM RGD |
PMID:8717042 PMID:8751863 PMID:8896560 PMID:9215679 PMID:9215680 PMID:9536098 PMID:10482950 PMID:10648412 PMID:11857544 PMID:15896657 PMID:16199547 PMID:17554367 PMID:17576681 PMID:18485661 PMID:21878672 PMID:23436631 PMID:24033266 PMID:24072239 PMID:24112114 PMID:25047945 PMID:25640679 PMID:25741868 PMID:26193622 PMID:26597256 PMID:26915675 PMID:27781387 PMID:27872624 PMID:28145517 PMID:28193763 PMID:28458669 PMID:28492532 PMID:30383631 PMID:30899265 PMID:31906877 PMID:10384041 More...
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RGD:633300 |
NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480
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G |
Mt1m |
metallothionein 1M |
|
ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr20:3,159,023...3,159,401
Ensembl chr 5:119,728,811...119,730,073 Ensembl chr19:119,728,811...119,730,073
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G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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G |
Nid1 |
nidogen 1 |
|
ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr17:86,085,046...86,158,277
Ensembl chr17:86,085,077...86,158,267
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G |
Rbm34 |
RNA binding motif protein 34 |
|
ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr19:54,936,516...54,956,810
Ensembl chr19:54,936,531...54,956,715
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G |
Ryr2 |
ryanodine receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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G |
Tarbp1 |
TAR (HIV-1) RNA binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr19:54,398,268...54,449,293
Ensembl chr19:54,398,253...54,449,261
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G |
Tbce |
tubulin folding cofactor E |
|
ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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G |
Tomm20 |
translocase of outer mitochondrial membrane 20 |
|
ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr19:54,925,197...54,935,188
Ensembl chr19:54,923,402...54,935,198
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G |
Abl1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Citrullinemia |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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G |
Arsa |
arylsulfatase A |
|
ISO |
ClinVar Annotator: match by term: Citrullinemia |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
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G |
Ass1 |
argininosuccinate synthase 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:1943692 PMID:2246255 PMID:2358466 PMID:2615645 PMID:6124451 PMID:7557970 PMID:7977368 PMID:8792870 PMID:9090528 PMID:9536098 PMID:10987146 PMID:11211875 PMID:11571557 PMID:11708871 PMID:11738042 PMID:11941481 PMID:12684898 PMID:12815590 PMID:14680976 PMID:15266621 PMID:15334737 PMID:15863597 PMID:16124451 PMID:16199547 PMID:16475226 PMID:17576681 PMID:18473344 PMID:18666241 PMID:18925679 PMID:19006241 PMID:19358837 PMID:21227727 PMID:21228398 PMID:21244552 PMID:21483992 PMID:22106832 PMID:22473243 PMID:22494545 PMID:22768672 PMID:23094117 PMID:23099195 PMID:23246278 PMID:23430935 PMID:23611581 PMID:23780642 PMID:24033266 PMID:24508627 PMID:24713661 PMID:24765495 PMID:24889030 PMID:25047749 PMID:25087612 PMID:25179242 PMID:25433810 PMID:25537548 PMID:25640679 PMID:25741868 PMID:26117549 PMID:26206375 PMID:27287393 PMID:27629047 PMID:28111830 PMID:28132756 PMID:28302489 PMID:28492532 PMID:29378745 PMID:30285816 PMID:30904546 PMID:31056765 PMID:31208364 PMID:31469252 PMID:31980526 PMID:7557970 More...
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RGD:1599301 |
NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903
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G |
Exosc2 |
exosome component 2 |
|
ISO |
ClinVar Annotator: match by term: Citrullinemia |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:14,962,930...14,973,645
Ensembl chr 3:14,962,917...14,973,575
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G |
Fubp3 |
far upstream element binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Citrullinemia |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:14,855,527...14,904,540
Ensembl chr 3:14,855,557...14,904,540
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G |
Prdm12 |
PR/SET domain 12 |
|
ISO |
ClinVar Annotator: match by term: Citrullinemia |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:14,928,651...14,943,341
Ensembl chr 3:14,928,628...14,943,331
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G |
Slc25a13 |
solute carrier family 25 member 13 |
|
ISO |
ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinuria |
ClinVar |
PMID:10369257 PMID:11153906 PMID:11343052 PMID:11793471 PMID:12512993 PMID:14680984 PMID:16199547 PMID:16449956 PMID:18367750 PMID:18392553 PMID:19036621 PMID:20376801 PMID:20927635 PMID:21424115 PMID:23053473 PMID:23701493 PMID:24069319 PMID:25110155 PMID:25741868 PMID:26858187 PMID:27405544 PMID:28492532 PMID:29659898 More...
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|
NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902
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G |
Slc25a15 |
solute carrier family 25 member 15 |
|
ISO |
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RGD |
PMID:10805333 PMID:10369256 |
RGD:1599240, RGD:1599239 |
NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010
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G |
Arg1 |
arginase 1 |
|
ISO |
protein:altered expression:liver |
RGD |
PMID:3369364 |
RGD:13628398 |
NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
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G |
Slc25a13 |
solute carrier family 25 member 13 |
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ISO |
ClinVar Annotator: match by term: Citrullinemia type 2 | ClinVar Annotator: match by term: Citrullinemia type II |
ClinVar |
PMID:9536098 PMID:10369257 PMID:11153906 PMID:11281457 PMID:11343052 PMID:11343053 PMID:11793471 PMID:12424587 PMID:12512993 PMID:14680984 PMID:15050970 PMID:16059747 PMID:16199547 PMID:16449956 PMID:17576681 PMID:17880783 PMID:18367750 PMID:18392553 PMID:19036621 PMID:19470249 PMID:20301360 PMID:21134364 PMID:21424115 PMID:21507300 PMID:22575253 PMID:22710133 PMID:23022256 PMID:23053473 PMID:23067347 PMID:23430852 PMID:24069319 PMID:24161253 PMID:24586645 PMID:25216257 PMID:25365849 PMID:25741868 PMID:26852511 PMID:27347070 PMID:27405544 PMID:27577219 PMID:27578510 PMID:28492532 PMID:29659898 More...
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NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902
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G |
Apob |
apolipoprotein B |
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ISO |
ClinVar Annotator: match by term: ASS deficiency |
ClinVar |
PMID:11941481 PMID:25741868 PMID:28492532 |
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NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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G |
Ass1 |
argininosuccinate synthase 1 |
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ISO |
ClinVar Annotator: match by term: Citrullinemia type I |
OMIM ClinVar |
PMID:934749 PMID:1943692 PMID:2246255 PMID:2358466 PMID:2615645 PMID:7557970 PMID:7977368 PMID:8792870 PMID:9090528 PMID:9536098 PMID:10987146 PMID:11211875 PMID:11571557 PMID:11708871 PMID:11738042 PMID:11941481 PMID:12684898 PMID:12815590 PMID:14680976 PMID:15266621 PMID:15334737 PMID:15863597 PMID:16124451 PMID:16199547 PMID:16475226 PMID:17576681 PMID:18473344 PMID:18666241 PMID:18925679 PMID:19006241 PMID:19358837 PMID:20005624 PMID:21227727 PMID:21228398 PMID:21244552 PMID:21483992 PMID:22106832 PMID:22473243 PMID:22494545 PMID:22768672 PMID:23094117 PMID:23099195 PMID:23246278 PMID:23430935 PMID:23611581 PMID:23780642 PMID:24033266 PMID:24508627 PMID:24713661 PMID:24765495 PMID:24889030 PMID:25047749 PMID:25087612 PMID:25179242 PMID:25433810 PMID:25537548 PMID:25741868 PMID:26117549 PMID:26206375 PMID:27287393 PMID:28111830 PMID:28132756 PMID:28302489 PMID:28492532 PMID:29378745 PMID:30285816 PMID:30612563 PMID:30904546 PMID:31056765 PMID:31208364 PMID:31469252 PMID:32860008 More...
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NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903
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G |
Pcsk9 |
proprotein convertase subtilisin/kexin type 9 |
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ISO |
ClinVar Annotator: match by term: argininosuccinate synthetase deficiency |
ClinVar |
PMID:11941481 PMID:15654334 PMID:16424354 PMID:16554528 PMID:16571601 PMID:18354102 PMID:19351729 PMID:19797716 PMID:19917273 PMID:20031607 PMID:20579540 PMID:23743349 PMID:24507774 PMID:25278291 PMID:25412415 PMID:25741868 PMID:26049403 PMID:26467025 PMID:27135400 PMID:27218270 PMID:27280970 PMID:27765764 PMID:28492532 PMID:28768753 PMID:28965616 PMID:29083407 PMID:29261184 PMID:29997226 More...
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NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688
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G |
Slc25a13 |
solute carrier family 25 member 13 |
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ISO |
ClinVar Annotator: match by term: Citrullinemia 1 | ClinVar Annotator: match by term: Citrullinemia type I |
ClinVar |
PMID:10369257 PMID:14680984 PMID:16199547 PMID:23022256 PMID:23053473 PMID:23067347 PMID:24069319 PMID:24586645 PMID:25216257 PMID:25741868 PMID:27405544 PMID:28492532 More...
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NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902
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G |
Mitf |
melanocyte inducing transcription factor |
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ISO |
ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness |
OMIM ClinVar |
PMID:27889061 PMID:30311386 PMID:34599368 |
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NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
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G |
Slc25a1 |
solute carrier family 25 member 1 |
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ISO |
ClinVar Annotator: match by term: D,L-2-hydroxyglutaric aciduria |
OMIM ClinVar |
PMID:9031613 PMID:23393310 PMID:23561848 PMID:25741868 PMID:28492532 PMID:29238895 More...
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NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
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G |
Acsf3 |
acyl-CoA synthetase family member 3 |
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ISO |
ClinVar Annotator: match by term: Combined malonic and methylmalonic acidemia |
OMIM ClinVar |
PMID:9030548 PMID:16199547 PMID:21785126 PMID:21841779 PMID:22421630 PMID:24033266 PMID:25640679 PMID:25741868 PMID:26827111 PMID:26915364 PMID:28492532 PMID:29144512 PMID:29555771 PMID:29858964 PMID:30041674 PMID:30740739 PMID:31376476 PMID:33223529 More...
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NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553
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G |
Dld |
dihydrolipoamide dehydrogenase |
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ISO |
ClinVar Annotator: match by term: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY | ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, TYPE III | ClinVar Annotator: match by term: Maple syrup urine disease, type 3 |
OMIM ClinVar |
PMID:1347528 PMID:1640293 PMID:3769994 PMID:7797549 PMID:8506365 PMID:8652022 PMID:8968745 PMID:9298831 PMID:9536098 PMID:9540846 PMID:9934985 PMID:10448086 PMID:11186938 PMID:11687750 PMID:12925875 PMID:14765544 PMID:15712224 PMID:15946682 PMID:16199547 PMID:16442803 PMID:16601893 PMID:16770810 PMID:17125710 PMID:17404228 PMID:17576681 PMID:18362926 PMID:20652410 PMID:20672374 PMID:21558426 PMID:21930696 PMID:23290025 PMID:23478190 PMID:23995961 PMID:24012808 PMID:24516753 PMID:25251739 PMID:25356417 PMID:25741868 PMID:25741884 PMID:27144126 PMID:27290639 PMID:27544700 PMID:27896107 PMID:28492532 More...
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NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795
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G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:18047645 PMID:22659343 PMID:28492532 |
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NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115
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G |
Bcap31 |
B-cell receptor-associated protein 31 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:18047645 PMID:22659343 PMID:28492532 |
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NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506
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G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:18047645 PMID:22659343 PMID:28492532 |
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NCBI chr X:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171
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G |
L1cam |
L1 cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:18047645 PMID:22659343 PMID:28492532 |
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NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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G |
Pdzd4 |
PDZ domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:18047645 PMID:22659343 PMID:28492532 |
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NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826
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G |
Plxnb3 |
plexin B3 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:18047645 PMID:22659343 PMID:28492532 |
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NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674
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G |
Slc6a8 |
solute carrier family 6 member 8 |
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ISO |
ClinVar Annotator: match by term: Creatine deficiency syndrome 1 | ClinVar Annotator: match by term: Creatine transporter deficiency | ClinVar Annotator: match by term: SLC6A8-Related Creatine Transporter Deficiency | ClinVar Annotator: match by term: X-linked creatine deficiency syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11326334 PMID:11898126 PMID:12210795 PMID:12536364 PMID:12544242 PMID:15154114 PMID:15690373 PMID:15857409 PMID:16086185 PMID:16199547 PMID:16738945 PMID:17101918 PMID:17465020 PMID:17553121 PMID:17576681 PMID:18047645 PMID:18414213 PMID:19188083 PMID:19763152 PMID:20307669 PMID:20717164 PMID:21556832 PMID:21836662 PMID:21910234 PMID:22281021 PMID:22406018 PMID:22659343 PMID:23234264 PMID:23408511 PMID:23644449 PMID:23660394 PMID:25326635 PMID:25741868 PMID:25803912 PMID:25861866 PMID:26467025 PMID:27408820 PMID:28492532 PMID:29429461 PMID:30885608 PMID:32860008 PMID:33624935 More...
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NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979
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G |
Srpk3 |
SRSF protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:18047645 PMID:22659343 PMID:28492532 |
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NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198
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G |
Ssr4 |
signal sequence receptor subunit 4 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:18047645 PMID:22659343 PMID:28492532 |
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NCBI chr X:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202
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G |
Cth |
cystathionine gamma-lyase |
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ISO |
ClinVar Annotator: match by term: Cystathioninuria | ClinVar Annotator: match by term: Gamma-cystathionase deficiency |
OMIM ClinVar |
PMID:12574942 PMID:15151507 PMID:18476726 PMID:19019829 PMID:19428278 PMID:20584029 PMID:23555315 PMID:25741868 PMID:28492532 More...
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NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234
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G |
Cenpf |
centromere protein F |
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ISO |
ClinVar Annotator: match by term: Cystinuria |
ClinVar |
PMID:25741868 |
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NCBI chr13:101,184,127...101,229,714
Ensembl chr13:101,184,127...101,229,669
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G |
Cep89 |
centrosomal protein 89 |
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ISO |
ClinVar Annotator: match by term: Cystinuria |
ClinVar |
PMID:21681106 |
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NCBI chr 1:88,058,211...88,100,114
Ensembl chr 1:88,058,227...88,100,112
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G |
Prepl |
prolyl endopeptidase-like |
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ISO |
ClinVar Annotator: match by term: Cystinuria |
ClinVar |
PMID:7573036 PMID:8054986 PMID:8792820 PMID:9768685 PMID:10620184 PMID:10737983 PMID:11260385 PMID:11748844 PMID:12820697 PMID:14531788 PMID:15635077 PMID:16374432 PMID:19782624 PMID:20517292 PMID:21677404 PMID:22493502 PMID:22796000 PMID:23532419 PMID:24033266 PMID:24610330 PMID:25109415 PMID:25640679 PMID:25741868 PMID:25964309 PMID:26537754 PMID:28492532 PMID:28646536 PMID:28717662 PMID:30773290 PMID:32133030 More...
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NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772
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G |
Slc3a1 |
solute carrier family 3 member 1 |
susceptibility |
ISO |
DNA:missense mutations ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria |
ClinVar OMIM RGD |
PMID:7539209 PMID:7573036 PMID:8054986 PMID:8731106 PMID:8792820 PMID:9083097 PMID:9186880 PMID:9648062 PMID:9719865 PMID:9768685 PMID:10464673 PMID:10620184 PMID:10737983 PMID:11260385 PMID:11748844 PMID:12036192 PMID:12234283 PMID:12820697 PMID:14531788 PMID:14561219 PMID:14991253 PMID:15635077 PMID:15691362 PMID:16138908 PMID:16199547 PMID:16225397 PMID:16374432 PMID:17010017 PMID:17880288 PMID:18332091 PMID:18414213 PMID:18704508 PMID:18947684 PMID:19782624 PMID:20517292 PMID:21255007 PMID:21488254 PMID:21677404 PMID:22480232 PMID:22493502 PMID:22796000 PMID:23007880 PMID:23532419 PMID:24033266 PMID:24215330 PMID:24610330 PMID:25109415 PMID:25296721 PMID:25640679 PMID:25741868 PMID:25964309 PMID:26537754 PMID:28166740 PMID:28492532 PMID:28646536 PMID:28717662 PMID:28893421 PMID:30146843 PMID:30773290 PMID:32133030 PMID:33532864 PMID:8054986 More...
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RGD:1600015 |
NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907
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G |
Slc7a9 |
solute carrier family 7 member 9 |
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ISO |
DNA:missense mutations, nonsense mutations:cds:multiple (human) ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria |
ClinVar OMIM RGD |
PMID:6031738 PMID:9536098 PMID:10471498 PMID:11013083 PMID:11157794 PMID:11260385 PMID:11748844 PMID:12036192 PMID:12234283 PMID:12234930 PMID:12239244 PMID:12371955 PMID:12820697 PMID:15635077 PMID:15670723 PMID:16138908 PMID:16199547 PMID:16225397 PMID:16374432 PMID:16834950 PMID:16838140 PMID:17539912 PMID:17576681 PMID:18414213 PMID:19782624 PMID:21255007 PMID:21677404 PMID:21681106 PMID:22480232 PMID:23532419 PMID:24033266 PMID:25109415 PMID:25296721 PMID:25599739 PMID:25741868 PMID:25964309 PMID:26123750 PMID:28492532 PMID:28646536 PMID:28717662 PMID:28812535 PMID:33532864 PMID:10471498 More...
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RGD:737767 |
NCBI chr 1:88,109,517...88,132,653
Ensembl chr 1:88,110,644...88,132,641
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G |
D2hgdh |
D-2-hydroxyglutarate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382
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G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
treatment |
ISO |
DNA:mutation:cds:p.R140Q(mouse) |
RGD |
PMID:27469509 |
RGD:13506812 |
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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G |
Agxt |
alanine--glyoxylate and serine--pyruvate aminotransferase |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336
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G |
Ankmy1 |
ankyrin repeat and MYND domain containing 1 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:93,423,664...93,476,651
Ensembl chr 9:93,423,963...93,477,236
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G |
Ano7 |
anoctamin 7 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:93,917,524...93,945,323
Ensembl chr 9:93,917,524...93,945,323
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G |
Aqp12a |
aquaporin 12A |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:93,554,527...93,560,011
Ensembl chr 9:93,554,527...93,560,011
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G |
Asb1 |
ankyrin repeat and SOCS box-containing 1 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:92,120,332...92,140,790
Ensembl chr 9:92,120,306...92,136,376
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G |
Atg4b |
autophagy related 4B, cysteine peptidase |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:94,282,417...94,314,109
Ensembl chr 9:94,282,509...94,314,103
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G |
Bok |
BCL2 family apoptosis regulator BOK |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:94,223,493...94,234,476
Ensembl chr 9:94,223,389...94,234,476
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G |
Capn10 |
calpain 10 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494
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G |
Col6a3 |
collagen type VI alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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G |
Cops9 |
COP9 signalosome subunit 9 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:93,209,843...93,214,774
Ensembl chr 9:93,209,843...93,213,317
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G |
D2hgdh |
D-2-hydroxyglutarate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
OMIM ClinVar |
PMID:7609436 PMID:9536098 PMID:15609246 PMID:16037974 PMID:16081310 PMID:16442322 PMID:17576681 PMID:18414213 PMID:20020533 PMID:21384162 PMID:22391998 PMID:25741868 PMID:26178471 PMID:28492532 PMID:30908763 More...
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NCBI chr 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382
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G |
Dtymk |
deoxythymidylate kinase |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:94,315,552...94,324,386
Ensembl chr 9:94,315,552...94,324,870
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G |
Dusp28 |
dual specificity phosphatase 28 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:93,472,492...93,474,207
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G |
Erfe |
erythroferrone |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:91,956,971...91,964,846
Ensembl chr 9:91,956,977...91,964,846
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G |
Espnl |
espin-like |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:91,912,049...91,935,292
Ensembl chr 9:91,912,049...91,935,292
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G |
Farp2 |
FERM, ARH/RhoGEF and pleckstrin domain protein 2 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:94,053,650...94,162,212
Ensembl chr 9:94,053,726...94,162,212
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G |
Gal3st2 |
galactose-3-O-sulfotransferase 2 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:94,382,456...94,387,990
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G |
Gjb1 |
gap junction protein, beta 1 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:8004109 PMID:9361298 PMID:10102421 PMID:10207904 PMID:10848620 PMID:11571214 PMID:25741868 PMID:28492532 More...
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NCBI chr X:66,501,848...66,509,783
Ensembl chr X:66,501,820...66,509,925
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G |
Gpc1 |
glypican 1 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:93,396,234...93,424,047
Ensembl chr 9:93,396,234...93,424,047
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G |
Gpr35 |
G protein-coupled receptor 35 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:93,526,691...93,539,302
Ensembl chr 9:93,527,127...93,539,299
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G |
Hdac4 |
histone deacetylase 4 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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G |
Hdlbp |
high density lipoprotein binding protein |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:93,948,099...94,018,040
Ensembl chr 9:93,949,913...94,018,048
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G |
Hes6 |
hes family bHLH transcription factor 6 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:92,001,838...92,003,580
Ensembl chr 9:92,001,841...92,003,559
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G |
Ilkap |
ILK associated serine/threonine phosphatase |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:91,966,440...91,988,791
Ensembl chr 9:91,966,441...91,988,892
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G |
Ing5 |
inhibitor of growth family, member 5 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:94,326,919...94,344,220
Ensembl chr 9:94,326,548...94,344,220
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G |
Kif1a |
kinesin family member 1A |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
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G |
Klhl30 |
kelch-like family member 30 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:91,942,443...91,952,756
Ensembl chr 9:91,942,504...91,952,730
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G |
Lrrfip1 |
LRR binding FLII interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:91,592,032...91,720,250
Ensembl chr 9:91,643,197...91,720,250
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G |
Mab21l4 |
mab-21 like 4 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:93,690,455...93,701,267
Ensembl chr 9:93,690,999...93,700,506
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G |
Mlph |
melanophilin |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:91,507,410...91,542,984
Ensembl chr 9:91,507,591...91,542,983
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G |
Mterf4 |
mitochondrial transcription termination factor 4 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:93,834,162...93,838,838
Ensembl chr 9:93,834,144...93,838,864
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G |
Ndufa10 |
NADH:ubiquinone oxidoreductase subunit A10 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:93,007,034...93,041,825
Ensembl chr 9:93,007,042...93,042,560
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G |
Neu4 |
neuraminidase 4 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:94,396,920...94,402,576
Ensembl chr 9:94,396,920...94,402,576
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G |
Olr1343 |
olfactory receptor 1343 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:93,048,475...93,049,413
Ensembl chr 9:93,045,014...93,053,641
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G |
Otos |
otospiralin |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:93,216,948...93,220,614
Ensembl chr 9:93,216,948...93,218,466
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G |
Pask |
PAS domain containing serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:93,844,275...93,886,036
Ensembl chr 9:93,844,278...93,885,111
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G |
Pdcd1 |
programmed cell death 1 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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G |
Per2 |
period circadian regulator 2 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459
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G |
Ppp1r7 |
protein phosphatase 1, regulatory subunit 7 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:93,886,068...93,909,991
Ensembl chr 9:93,886,143...93,914,850
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G |
Prlh |
prolactin releasing hormone |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:91,543,128...91,549,022
Ensembl chr 9:91,547,901...91,548,818
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G |
Prr21 |
proline rich 21 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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G |
Rab17 |
RAB17, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:91,552,924...91,566,759
Ensembl chr 9:91,553,464...91,566,451
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G |
Ramp1 |
receptor activity modifying protein 1 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:91,765,481...91,816,152
Ensembl chr 9:91,781,285...91,816,151
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G |
Rbm44 |
RNA binding motif protein 44 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:91,731,153...91,756,783
Ensembl chr 9:91,731,115...91,756,772
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G |
Rnpepl1 |
arginyl aminopeptidase like 1 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:93,476,600...93,486,331
Ensembl chr 9:93,472,390...93,486,331
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G |
Scly |
selenocysteine lyase |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:91,890,269...91,910,947
Ensembl chr 9:91,890,306...91,910,941
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G |
Septin2 |
septin 2 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:94,018,141...94,051,386
Ensembl chr 9:94,018,208...94,051,386
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G |
Sned1 |
sushi, nidogen and EGF-like domains 1 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:93,774,087...93,834,003
Ensembl chr 9:93,774,119...93,830,694
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G |
Stk25 |
serine/threonine kinase 25 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:94,161,834...94,174,095
Ensembl chr 9:94,161,836...94,174,244
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G |
Thap4 |
THAP domain containing 4 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:94,242,581...94,282,312
Ensembl chr 9:94,242,581...94,282,306
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G |
Traf3ip1 |
TRAF3 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977
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G |
Twist2 |
twist family bHLH transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222
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G |
Ube2f |
ubiquitin-conjugating enzyme E2F (putative) |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:91,845,954...91,881,145
Ensembl chr 9:91,845,987...91,880,594
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G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20171147 PMID:20847235 PMID:20946881 PMID:21889589 PMID:22160010 PMID:22397365 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24606448 PMID:25157968 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:28166811 PMID:28492532 More...
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NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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G |
Slc1a1 |
solute carrier family 1 member 1 |
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ISO |
ClinVar Annotator: match by term: Dicarboxylic aminoaciduria |
OMIM ClinVar |
PMID:21123949 PMID:25741868 PMID:28492532 |
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NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402
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G |
Dmgdh |
dimethylglycine dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Dimethylglycine dehydrogenase deficiency |
OMIM ClinVar |
PMID:10102904 PMID:10767172 PMID:11231903 PMID:25741868 PMID:28492532 |
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NCBI chr 2:24,912,600...24,987,533
Ensembl chr 2:24,912,578...24,987,528
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G |
Tdo2 |
tryptophan 2,3-dioxygenase |
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ISO |
ClinVar Annotator: match by term: Familial hypertryptophanemia |
ClinVar OMIM |
PMID:28285122 |
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NCBI chr 2:167,269,581...167,287,511
Ensembl chr 2:167,269,579...167,287,511
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G |
Acvrl1 |
activin A receptor like type 1 |
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ISO |
ClinVar Annotator: match by term: Fumarase deficiency |
ClinVar |
PMID:11865300 PMID:15879500 PMID:19763152 PMID:20307669 PMID:21398687 PMID:22406018 PMID:28492532 More...
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NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
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G |
Chml |
CHM like Rab escort protein |
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ISO |
ClinVar Annotator: match by term: Fumarase deficiency |
ClinVar |
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
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NCBI chr13:87,613,610...87,615,475
Ensembl chr13:87,589,298...87,619,862
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G |
Exo1 |
exonuclease 1 |
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ISO |
ClinVar Annotator: match by term: Fumarase deficiency |
ClinVar |
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
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NCBI chr13:87,809,725...87,834,654
Ensembl chr13:87,809,810...87,834,654
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G |
Fh |
fumarate hydratase |
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ISO |
ClinVar Annotator: match by term: Fumarase deficiency |
OMIM ClinVar |
PMID:2314594 PMID:8007976 PMID:8200987 PMID:9300800 PMID:9536098 PMID:9635293 PMID:9665847 PMID:10896297 PMID:11585823 PMID:11865300 PMID:12761039 PMID:12772087 PMID:14632190 PMID:15221078 PMID:15663510 PMID:15761418 PMID:15937070 PMID:15987702 PMID:16029320 PMID:16151915 PMID:16199547 PMID:16206287 PMID:16237213 PMID:16288654 PMID:16309500 PMID:16403393 PMID:16510303 PMID:16575891 PMID:16597677 PMID:16639410 PMID:16757530 PMID:16876016 PMID:16881969 PMID:17182618 PMID:17270241 PMID:17392716 PMID:17576681 PMID:17768033 PMID:17960613 PMID:18176756 PMID:18313410 PMID:18366737 PMID:18503824 PMID:18514489 PMID:19151755 PMID:19339519 PMID:19470762 PMID:19939761 PMID:19967458 PMID:20056206 PMID:20109895 PMID:20231875 PMID:20549362 PMID:20618355 PMID:21051878 PMID:21304509 PMID:21340633 PMID:21398687 PMID:21404119 PMID:21445611 PMID:21447597 PMID:21520333 PMID:21560188 PMID:21630274 PMID:21733559 PMID:21904061 PMID:21929734 PMID:22069215 PMID:22086304 PMID:22127509 PMID:22243733 PMID:22382802 PMID:22473397 PMID:22528940 PMID:22561013 PMID:22565324 PMID:22595425 PMID:22703879 PMID:22764886 PMID:23203078 PMID:23211287 PMID:23320739 PMID:23612258 PMID:24182348 PMID:24334767 PMID:24346898 PMID:24419633 PMID:24441663 PMID:24625422 PMID:24684806 PMID:24728327 PMID:25004247 PMID:25292446 PMID:25477250 PMID:25525159 PMID:25613812 PMID:25637381 PMID:25741868 PMID:25750977 PMID:25852058 PMID:25913776 PMID:25923021 PMID:25985877 PMID:26023681 PMID:26173633 PMID:26237645 PMID:26323704 PMID:26457356 PMID:26467025 PMID:26556299 PMID:26574848 PMID:26580448 PMID:26700204 PMID:26900816 PMID:26983443 PMID:27037871 PMID:27187686 PMID:27454940 PMID:27541980 PMID:28196407 PMID:28266706 PMID:28300276 PMID:28492532 PMID:28592321 PMID:28700432 PMID:28747166 PMID:28825054 PMID:28873162 PMID:29423582 PMID:29456767 PMID:29909963 PMID:30050099 PMID:30171332 PMID:30548481 PMID:30761759 PMID:30785029 PMID:30877234 PMID:30967997 PMID:31444830 PMID:31524643 PMID:31564060 PMID:31746132 PMID:31831373 PMID:32154112 PMID:32463173 More...
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NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
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G |
Kmo |
kynurenine 3-monooxygenase |
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ISO |
ClinVar Annotator: match by term: Fumarase deficiency |
ClinVar |
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
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NCBI chr13:87,557,080...87,589,334
Ensembl chr13:87,557,286...87,588,881
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G |
Opn3 |
opsin 3 |
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ISO |
ClinVar Annotator: match by term: Fumarase deficiency |
ClinVar |
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
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NCBI chr13:87,589,330...87,619,847
Ensembl chr13:87,589,333...87,619,847
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G |
Pld5 |
phospholipase D family, member 5 |
|
ISO |
ClinVar Annotator: match by term: Fumarase deficiency |
ClinVar |
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
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NCBI chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868
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G |
Rgs7 |
regulator of G-protein signaling 7 |
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ISO |
ClinVar Annotator: match by term: Fumarase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr13:86,979,269...87,408,834
Ensembl chr13:86,979,279...87,408,888
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G |
Wdr64 |
WD repeat domain 64 |
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ISO |
ClinVar Annotator: match by term: Fumarase deficiency |
ClinVar |
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
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NCBI chr13:87,624,588...87,746,749
Ensembl chr13:87,624,607...87,747,327
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G |
Abat |
4-aminobutyrate aminotransferase |
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ISO |
ClinVar Annotator: match by term: 4 alpha aminobutyrate transaminase deficiency | ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:6148708 PMID:9536098 PMID:10407778 PMID:15642443 PMID:16199547 PMID:17576681 PMID:20052547 PMID:25640679 PMID:25738457 PMID:25741868 PMID:26467025 PMID:27596361 PMID:27903293 PMID:28411234 PMID:28492532 PMID:31133775 More...
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NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
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G |
Carhsp1 |
calcium regulated heat stable protein 1 |
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ISO |
ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency |
ClinVar |
PMID:20052547 PMID:25738457 PMID:28492532 |
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NCBI chr10:6,946,036...6,960,556
Ensembl chr10:6,946,959...7,020,019
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G |
Grin2a |
glutamate ionotropic receptor NMDA type subunit 2A |
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ISO |
ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency |
ClinVar |
PMID:20052547 PMID:25738457 PMID:28492532 |
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NCBI chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637
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G |
Pmm2 |
phosphomannomutase 2 |
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ISO |
ClinVar Annotator: match by term: 4 alpha aminobutyrate transaminase deficiency | ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency |
ClinVar |
PMID:20052547 PMID:25738457 PMID:28492532 |
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NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
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G |
RGD1309748 |
similar to CG4768-PA |
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ISO |
ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency |
ClinVar |
PMID:20052547 PMID:25738457 PMID:28492532 |
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NCBI chr10:6,746,037...6,774,992
Ensembl chr10:6,746,048...6,774,992
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G |
Tmem186 |
transmembrane protein 186 |
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ISO |
ClinVar Annotator: match by term: 4 alpha aminobutyrate transaminase deficiency | ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency |
ClinVar |
PMID:20052547 PMID:25738457 PMID:28492532 |
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NCBI chr10:6,982,938...6,986,256
Ensembl chr10:6,982,916...6,986,256
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G |
Usp7 |
ubiquitin specific peptidase 7 |
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ISO |
ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency |
ClinVar |
PMID:20052547 PMID:25738457 PMID:28492532 |
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NCBI chr10:6,880,684...6,925,033
Ensembl chr10:6,828,795...6,925,355
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G |
Ggt1 |
gamma-glutamyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: gamma-Glutamyltransferase deficiency |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
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G |
Gls |
glutaminase |
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ISO |
ClinVar Annotator: match by term: Global developmental delay, progressive ataxia, and elevated glutamine |
OMIM ClinVar |
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NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900
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G |
Gclc |
glutamate-cysteine ligase, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Gamma-glutamylcysteine synthetase deficiency |
OMIM ClinVar |
PMID:10515893 PMID:25741868 PMID:28492532 |
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NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
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G |
Glul |
glutamate-ammonia ligase |
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ISO |
ClinVar Annotator: match by term: GLUTAMINE SYNTHASE DEFICIENCY, CONGENITAL SYSTEMIC | ClinVar Annotator: match by term: Glutamine deficiency, congenital | ClinVar Annotator: match by term: Glutamine synthetase deficiency, congenital systemic CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16267323 PMID:17576681 PMID:21353613 PMID:25741868 PMID:28492532 More...
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NCBI chr13:65,969,064...66,035,121
Ensembl chr13:66,025,630...66,035,108
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G |
Acadvl |
acyl-CoA dehydrogenase, very long chain |
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ISO |
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RGD |
PMID:15840571 |
RGD:10047115 |
NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
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G |
Best2 |
bestrophin 2 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,141,602...23,148,351
Ensembl chr19:23,141,602...23,148,339
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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G |
Calr |
calreticulin |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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G |
Dand5 |
DAN domain BMP antagonist family member 5 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,330,917...23,340,486
Ensembl chr19:23,334,164...23,339,589
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G |
Dhps |
deoxyhypusine synthase |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881
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G |
Dnase2 |
deoxyribonuclease 2, lysosomal |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,244,661...23,247,329
Ensembl chr19:23,244,664...23,247,376
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G |
Farsa |
phenylalanyl-tRNA synthetase subunit alpha |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980
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G |
Fbxw9 |
F-box and WD repeat domain containing 9 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,090,534...23,097,439
Ensembl chr19:23,090,534...23,097,439
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G |
Gadd45gip1 |
GADD45G interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,320,662...23,323,211
Ensembl chr19:23,320,159...23,323,236
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G |
Gcdh |
glutaryl-CoA dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:1951469 PMID:6377226 PMID:7795610 PMID:8541831 PMID:8900227 PMID:8900228 PMID:9266361 PMID:9536098 PMID:9600243 PMID:9711871 PMID:9856558 PMID:9881681 PMID:10066389 PMID:10371528 PMID:10384381 PMID:10649503 PMID:10699052 PMID:10759157 PMID:10960496 PMID:11015709 PMID:11024031 PMID:11058907 PMID:11073722 PMID:11174631 PMID:11508549 PMID:11825066 PMID:11854167 PMID:12199454 PMID:12210585 PMID:12473778 PMID:12872844 PMID:12948740 PMID:14691600 PMID:15318278 PMID:15505393 PMID:15505400 PMID:15573311 PMID:15954035 PMID:16183314 PMID:16199547 PMID:16377226 PMID:16466958 PMID:16488172 PMID:16602100 PMID:16641220 PMID:17188916 PMID:17478444 PMID:17576681 PMID:17622945 PMID:17642054 PMID:17661081 PMID:18285246 PMID:18411069 PMID:18459892 PMID:18683078 PMID:18775954 PMID:18926513 PMID:19167251 PMID:19433275 PMID:19433437 PMID:19486177 PMID:19630565 PMID:20084589 PMID:20514322 PMID:20629163 PMID:20732827 PMID:20836999 PMID:20960650 PMID:20978942 PMID:21031586 PMID:21176883 PMID:21228398 PMID:21811973 PMID:21912879 PMID:22106832 PMID:22231382 PMID:22728054 PMID:23104440 PMID:23225040 PMID:23395213 PMID:23884036 PMID:24332224 PMID:24795062 PMID:24973495 PMID:25087612 PMID:25190159 PMID:25204480 PMID:25255367 PMID:25256449 PMID:25590979 PMID:25735478 PMID:25741868 PMID:25762492 PMID:25863083 PMID:26071121 PMID:26316201 PMID:26589311 PMID:26593172 PMID:26633542 PMID:26656312 PMID:27243974 PMID:27250579 PMID:27351573 PMID:27397597 PMID:27476540 PMID:27629047 PMID:27672653 PMID:27896087 PMID:28062662 PMID:28143689 PMID:28302372 PMID:28352331 PMID:28389991 PMID:28411331 PMID:28438223 PMID:28492532 PMID:28781846 PMID:28794906 PMID:29086383 PMID:29201125 PMID:29292490 PMID:29419857 PMID:29665094 PMID:30203563 PMID:30217722 PMID:30298489 PMID:30512148 PMID:30570710 PMID:31062211 PMID:31130284 PMID:31319225 PMID:31536184 PMID:31589614 PMID:31788423 PMID:32005694 PMID:32240488 PMID:32508882 PMID:33116287 PMID:33728242 PMID:34258142 PMID:34344405 PMID:28545977 More...
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RGD:13515124 |
NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
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G |
Get3 |
guided entry of tail-anchored proteins factor 3, ATPase |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,130,109...23,138,196
Ensembl chr19:23,130,109...23,138,193
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G |
Hook2 |
hook microtubule-tethering protein 2 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,151,869...23,170,139
Ensembl chr19:23,151,870...23,164,181
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G |
Ier2 |
immediate early response 2 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,494,551...23,496,075
Ensembl chr19:23,494,184...23,499,211
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G |
Junb |
JunB proto-oncogene, AP-1 transcription factor subunit |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
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G |
Klf1 |
Kruppel like factor 1 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
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G |
Lyl1 |
LYL1, basic helix-loop-helix family member |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007
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G |
Man2b1 |
mannosidase, alpha, class 2B, member 1 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389
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G |
MAST1 |
microtubule associated serine/threonine kinase 1 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235
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G |
Nacc1 |
nucleus accumbens associated 1 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528
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G |
Nfix |
nuclear factor I X |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265
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G |
Prdx2 |
peroxiredoxin 2 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194
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G |
Rad23a |
RAD23 homolog A, nucleotide excision repair protein |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,313,563...23,320,702
Ensembl chr19:23,314,797...23,320,695
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G |
Rnaseh2a |
ribonuclease H2, subunit A |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041
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G |
Rtbdn |
retbindin |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438
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G |
Syce2 |
synaptonemal complex central element protein 2 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:1951469 PMID:8900227 PMID:8900228 PMID:9536098 PMID:9600243 PMID:9711871 PMID:10371528 |