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G |
Atic |
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase |
susceptibility |
ISO |
DNA:frameshift,point mutation:A1277G;AICA-RIBOSIDURIA,OMIM:608688 |
RGD |
PMID:15114530 |
RGD:1599355 |
NCBI chrNW_004955457:704,213...729,702
Ensembl chrNW_004955457:704,213...730,134
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G |
Dpyd |
dihydropyrimidine dehydrogenase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:3335642 PMID:15571261 |
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NCBI chrNW_004955435:2,007,185...2,800,907
Ensembl chrNW_004955435:2,007,185...2,766,138
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G |
Dpys |
dihydropyrimidinase |
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ISO |
dihydropyrimidinuria |
RGD |
PMID:9718352 |
RGD:1599001 |
NCBI chrNW_004955417:28,183,771...28,244,309
Ensembl chrNW_004955417:28,185,407...28,244,307
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G |
Pnp |
purine nucleoside phosphorylase |
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ISO |
nucleoside phosphorylase deficiency, OMIM:164050 |
RGD |
PMID:3029074 |
RGD:1600263 |
NCBI chrNW_004955550:1,290,816...1,299,553
Ensembl chrNW_004955550:1,290,244...1,298,068
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G |
Umps |
uridine monophosphate synthetase |
|
ISO |
orotic aciduria |
RGD |
PMID:9042911 |
RGD:1599702 |
NCBI chrNW_004955427:23,825,529...23,841,427
Ensembl chrNW_004955427:23,825,523...23,841,152
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G |
Xrcc1 |
X-ray repair cross complementing 1 |
susceptibility |
ISO |
DNA:missense mutation:CDS:p.R399Q (human) |
RGD |
PMID:23604281 |
RGD:150530625 |
NCBI chrNW_004955555:1,293,416...1,315,839
Ensembl chrNW_004955555:1,293,416...1,315,839
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G |
Aprt |
adenine phosphoribosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency |
OMIM ClinVar |
PMID:1353080 PMID:1673292 PMID:1781410 PMID:1985452 PMID:2135300 PMID:2227951 PMID:2502918 PMID:3343350 PMID:3554238 PMID:3680503 PMID:7685481 PMID:7758207 PMID:7912608 PMID:7915931 PMID:8882882 PMID:9298830 PMID:9521589 PMID:9536098 PMID:10393170 PMID:11243733 PMID:15571218 PMID:17126311 PMID:17576681 PMID:19435978 PMID:20150536 PMID:21304254 PMID:21635362 PMID:22212387 PMID:22988602 PMID:23430916 PMID:24459232 PMID:24940675 PMID:24986359 PMID:25741868 PMID:25983915 PMID:25984046 PMID:26724837 PMID:27994857 PMID:28492532 PMID:28566603 PMID:28717278 PMID:30106368 PMID:30355577 PMID:30389108 PMID:30890413 PMID:30993240 PMID:31201003 PMID:31440706 PMID:33707627 More...
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NCBI chrNW_004955541:2,687,938...2,690,906
Ensembl chrNW_004955541:2,687,938...2,690,906
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G |
Cdt1 |
chromatin licensing and DNA replication factor 1 |
|
ISO |
ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955541:2,683,030...2,687,883
Ensembl chrNW_004955541:2,683,408...2,687,102
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G |
Galns |
galactosamine (N-acetyl)-6-sulfatase |
|
ISO |
ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955541:2,691,103...2,711,137
Ensembl chrNW_004955541:2,691,103...2,710,696
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G |
Ada |
adenosine deaminase |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
OMIM ClinVar |
PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 PMID:1401934 PMID:1680289 PMID:1696926 PMID:1925539 PMID:1974554 PMID:2166947 PMID:2651461 PMID:2758612 PMID:2773932 PMID:2783588 PMID:3007108 PMID:3182793 PMID:3366897 PMID:3475710 PMID:3684597 PMID:3839802 PMID:6208479 PMID:7554472 PMID:7599635 PMID:7691348 PMID:8023852 PMID:8031011 PMID:8051429 PMID:8120281 PMID:8178821 PMID:8227344 PMID:8258146 PMID:8299233 PMID:8401541 PMID:8433873 PMID:8589684 PMID:8614422 PMID:8673127 PMID:9108404 PMID:9225964 PMID:9361033 PMID:9414266 PMID:9536098 PMID:9616253 PMID:9758612 PMID:9806422 PMID:10200056 PMID:11067872 PMID:11157502 PMID:11160213 PMID:11313286 PMID:11354825 PMID:11807006 PMID:14499267 PMID:16199547 PMID:16276484 PMID:16825284 PMID:17001642 PMID:17181544 PMID:17185467 PMID:17576681 PMID:18952502 PMID:19179314 PMID:19665771 PMID:19830125 PMID:20039061 PMID:20544538 PMID:21228398 PMID:21410451 PMID:21624848 PMID:21664875 PMID:21865538 PMID:22409989 PMID:22447032 PMID:22764473 PMID:22968453 PMID:23260757 PMID:23348723 PMID:24033266 PMID:25326637 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25741914 PMID:25875700 PMID:25954555 PMID:26255240 PMID:26376800 PMID:26467025 PMID:27095930 PMID:27129325 PMID:27484032 PMID:27872624 PMID:28266921 PMID:28346229 PMID:28492532 PMID:28747913 PMID:29744787 PMID:30290665 PMID:30778343 PMID:30858051 PMID:31031743 PMID:31319225 PMID:31589898 PMID:31681265 PMID:31781678 PMID:31858364 PMID:32135276 PMID:32245326 PMID:32307643 PMID:32445296 PMID:32888943 PMID:33628209 PMID:33975924 PMID:34502390 PMID:34975878 PMID:36685585 More...
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NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488
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G |
Cd3g |
CD3g molecule |
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ISO |
ClinVar Annotator: match by term: Bubble boy disease |
ClinVar |
PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117 |
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NCBI chrNW_004955412:19,486,066...19,496,474
Ensembl chrNW_004955412:19,486,284...19,494,922
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G |
Dock8 |
dedicator of cytokinesis 8 |
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ISO |
ClinVar Annotator: match by term: Bubble boy disease |
ClinVar |
PMID:14722525 PMID:16199547 PMID:18060736 PMID:19776401 PMID:24033266 PMID:25724123 PMID:25741868 PMID:26046366 PMID:26744459 PMID:28492532 PMID:31980526 PMID:37592284 More...
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NCBI chrNW_004955434:4,849,147...5,050,545
Ensembl chrNW_004955434:4,867,016...5,049,118
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G |
Jak3 |
Janus kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency |
ClinVar |
PMID:7481768 PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 PMID:11213805 PMID:11668610 PMID:11668621 PMID:14615376 PMID:17433830 PMID:17644747 PMID:19203666 PMID:21184155 PMID:23384681 PMID:25146434 PMID:25741868 PMID:28492532 PMID:30697212 PMID:30778343 PMID:32754152 PMID:33365035 PMID:34173127 PMID:35482138 More...
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NCBI chrNW_004955524:3,399,895...3,412,018
Ensembl chrNW_004955524:3,401,642...3,411,643
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G |
Rag1 |
recombination activating 1 |
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ISO |
ClinVar Annotator: match by term: Bubble boy disease ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:8810255 PMID:9630231 PMID:10635319 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:12200379 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17476359 PMID:17572155 PMID:17890453 PMID:18463379 PMID:18768869 PMID:18822103 PMID:19064334 PMID:19178939 PMID:19246248 PMID:19912631 PMID:20956421 PMID:21664875 PMID:22424479 PMID:23085344 PMID:23122631 PMID:23891352 PMID:24144642 PMID:24290284 PMID:24406074 PMID:24418478 PMID:24985406 PMID:25516070 PMID:25741868 PMID:25869295 PMID:26457731 PMID:26476733 PMID:26596586 PMID:26829731 PMID:27301863 PMID:27484032 PMID:28492532 PMID:28769923 PMID:28783691 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30877075 PMID:31632441 PMID:32445296 PMID:32655540 PMID:32888943 PMID:33365035 PMID:33628209 PMID:34224223 PMID:34664192 PMID:35281013 PMID:35303369 More...
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NCBI chrNW_004955422:9,891,878...9,928,569
Ensembl chrNW_004955422:9,891,878...9,919,504
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G |
Tp53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency |
ClinVar |
PMID:11782540 PMID:16818505 PMID:17606709 PMID:20407015 PMID:21343334 PMID:21519010 PMID:22186996 PMID:22915647 PMID:23246812 PMID:25326637 PMID:25741868 PMID:25952993 PMID:26010451 PMID:26230955 PMID:26467025 PMID:26585234 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28492532 PMID:30327374 More...
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NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
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G |
Ampd1 |
adenosine monophosphate deaminase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1631143 PMID:10996775 PMID:11102975 |
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NCBI chrNW_004955435:17,962,487...17,991,625
Ensembl chrNW_004955435:17,962,514...17,991,556
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G |
Aco2 |
aconitase 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:27,027,341...27,065,227
Ensembl chrNW_004955413:27,027,341...27,065,227
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G |
Adsl |
adenylosuccinate lyase |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
OMIM ClinVar |
PMID:1302001 PMID:1405483 PMID:3234432 PMID:6150139 PMID:7334371 PMID:8598641 PMID:9165520 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:20049533 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:25910213 PMID:26467025 PMID:27504266 PMID:28487569 PMID:28492532 PMID:28559277 PMID:28768552 PMID:29302074 PMID:29314763 PMID:29655203 PMID:30185235 PMID:30609409 PMID:31164858 PMID:31440721 PMID:31467849 PMID:31623504 PMID:32681428 PMID:33648541 More...
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NCBI chrNW_004955413:26,067,463...26,084,669
Ensembl chrNW_004955413:26,067,516...26,088,527
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G |
Ankrd54 |
ankyrin repeat domain 54 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,203,653...24,216,702
Ensembl chrNW_004955413:24,203,653...24,216,851
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G |
Atf4 |
activating transcription factor 4 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:25,406,589...25,408,727
Ensembl chrNW_004955413:25,406,589...25,412,218
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G |
Baiap2l2 |
BAR/IMD domain containing adaptor protein 2 like 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,406,856...24,430,779
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G |
C1qtnf6 |
C1q and TNF related 6 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:23,661,788...23,669,793
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G |
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 chrNW_004955413:25,440,533...25,538,367
Ensembl chrNW_004955413:25,453,703...25,535,530
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G |
Cacng2 |
calcium voltage-gated channel auxiliary subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:23,136,369...23,248,231
Ensembl chrNW_004955413:23,132,896...23,248,231
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G |
Card10 |
caspase recruitment domain family member 10 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:23,920,929...23,946,109
Ensembl chrNW_004955413:23,920,405...23,946,135
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G |
Cbx6 |
chromobox 6 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,955,721...24,966,015
Ensembl chrNW_004955413:24,955,721...24,966,973
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G |
Cbx7 |
chromobox 7 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:25,079,627...25,100,039
Ensembl chrNW_004955413:25,086,186...25,100,039
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G |
Cby1 |
chibby 1, beta catenin antagonist |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,781,102...24,794,537
Ensembl chrNW_004955413:24,781,102...24,794,537
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G |
Ccdc134 |
coiled-coil domain containing 134 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:27,248,879...27,265,635
Ensembl chrNW_004955413:27,249,272...27,265,635
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G |
Cdc42ep1 |
CDC42 effector protein 1 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:23,984,691...23,987,753
Ensembl chrNW_004955413:23,984,691...23,987,257
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G |
Cenpm |
centromere protein M |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:27,349,283...27,360,052
Ensembl chrNW_004955413:27,349,283...27,360,052
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G |
Chadl |
chondroadherin like |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:26,846,714...26,862,082
Ensembl chrNW_004955413:26,851,420...26,862,081
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G |
Cimip4 |
ciliary microtubule inner protein 4 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:23,508,531...23,525,964
Ensembl chrNW_004955413:23,508,325...23,525,720
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G |
Csdc2 |
cold shock domain containing C2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:27,079,280...27,090,082
Ensembl chrNW_004955413:27,079,280...27,090,082
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G |
Csf2rb |
colony stimulating factor 2 receptor subunit beta |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:23,442,417...23,465,093
Ensembl chrNW_004955413:23,449,111...23,463,820
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G |
Csnk1e |
casein kinase 1 epsilon |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,560,889...24,591,669
Ensembl chrNW_004955413:24,560,900...24,591,669
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G |
CUNH22orf23 |
chromosome unknown C22orf23 homolog |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,291,712...24,300,294
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G |
Cyth4 |
cytohesin 4 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:23,745,797...23,774,397
Ensembl chrNW_004955413:23,745,777...23,768,387
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G |
Ddx17 |
DEAD-box helicase 17 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,646,317...24,664,614
Ensembl chrNW_004955413:24,646,320...24,664,614
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G |
Desi1 |
desumoylating isopeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:27,115,130...27,135,625
Ensembl chrNW_004955413:27,112,974...27,135,625
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G |
Dmc1 |
DNA meiotic recombinase 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,685,311...24,724,269
Ensembl chrNW_004955413:24,684,073...24,724,344
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G |
Dnajb7 |
DnaJ heat shock protein family (Hsp40) member B7 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:26,510,844...26,512,855
Ensembl chrNW_004955413:26,511,834...26,512,849
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G |
Dnal4 |
dynein axonemal light chain 4 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,897,329...24,908,484
Ensembl chrNW_004955413:24,896,680...24,908,602
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G |
Eif3d |
eukaryotic translation initiation factor 3 subunit D |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:23,096,440...23,110,312
Ensembl chrNW_004955413:23,092,749...23,110,312
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G |
Eif3l |
eukaryotic translation initiation factor 3 subunit L |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,220,188...24,250,786
Ensembl chrNW_004955413:24,220,188...24,254,176
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G |
Elfn2 |
extracellular leucine rich repeat and fibronectin type III domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:23,805,494...23,862,067
Ensembl chrNW_004955413:23,805,494...23,862,067
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G |
Enthd1 |
ENTH domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:25,580,200...25,684,390
Ensembl chrNW_004955413:25,579,604...25,684,410
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G |
Ep300 |
E1A binding protein p300 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:26,647,553...26,727,875
Ensembl chrNW_004955413:26,648,339...26,727,933
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Fam227a |
family with sequence similarity 227 member A |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,732,478...24,780,909
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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 chrNW_004955413:25,775,107...25,807,592
Ensembl chrNW_004955413:25,775,107...25,807,625
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Foxred2 |
FAD dependent oxidoreductase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:23,070,715...23,091,402
Ensembl chrNW_004955413:23,068,642...23,091,396
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Galr3 |
galanin receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,195,817...24,198,010
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G |
Gcat |
glycine C-acetyltransferase |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,184,997...24,192,178
Ensembl chrNW_004955413:24,184,997...24,192,229
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Gga1 |
golgi associated, gamma adaptin ear containing, ARF binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,018,595...24,037,887
Ensembl chrNW_004955413:24,018,595...24,037,887
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Grap2 |
GRB2 related adaptor protein 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:25,691,824...25,758,461
Ensembl chrNW_004955413:25,691,439...25,758,813
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Gtpbp1 |
GTP binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,823,113...24,849,522
Ensembl chrNW_004955413:24,823,113...24,852,691
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Hmox1 |
heme oxygenase 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
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Ift27 |
intraflagellar transport 27 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:23,295,549...23,310,824
Ensembl chrNW_004955413:23,295,185...23,310,802
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Il2rb |
interleukin 2 receptor subunit beta |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:23,623,567...23,640,245
Ensembl chrNW_004955413:23,623,154...23,640,259
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G |
Josd1 |
Josephin domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,803,189...24,817,150
Ensembl chrNW_004955413:24,803,189...24,817,174
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G |
Kcnj4 |
potassium inwardly rectifying channel subfamily J member 4 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,605,887...24,634,524
Ensembl chrNW_004955413:24,605,887...24,634,524
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Kctd17 |
potassium channel tetramerization domain containing 17 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:23,568,540...23,578,292
Ensembl chrNW_004955413:23,567,865...23,578,292
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G |
Kdelr3 |
KDEL endoplasmic reticulum protein retention receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,638,551...24,648,723
Ensembl chrNW_004955413:24,638,518...24,648,723
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G |
L3mbtl2 |
L3MBTL histone methyl-lysine binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:26,831,065...26,847,638
Ensembl chrNW_004955413:26,831,066...26,851,859
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G |
Lgals1 |
galectin 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,072,086...24,075,452
Ensembl chrNW_004955413:24,072,086...24,075,452
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G |
Lgals2 |
galectin 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:23,988,193...24,001,868
Ensembl chrNW_004955413:23,988,193...23,989,703
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G |
LOC102010789 |
histone H1.0 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,182,547...24,184,588
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G |
Maff |
MAF bZIP transcription factor F |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,494,326...24,504,728
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G |
Mb |
myoglobin |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955405:43,215,404...43,221,606
Ensembl chrNW_004955405:43,215,007...43,222,052
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Mchr1 |
melanin concentrating hormone receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:26,343,771...26,347,374
Ensembl chrNW_004955413:26,343,759...26,347,520
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Mcm5 |
minichromosome maintenance complex component 5 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955405:43,132,815...43,145,699
Ensembl chrNW_004955405:43,132,204...43,145,699
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G |
Mei1 |
meiotic double-stranded break formation protein 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:27,188,013...27,247,608
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G |
Mfng |
MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:23,901,987...23,917,720
Ensembl chrNW_004955413:23,902,707...23,917,542
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Mgat3 |
beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:25,346,135...25,367,782
Ensembl chrNW_004955413:25,360,806...25,367,782
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G |
Micall1 |
MICAL like 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,264,726...24,290,578
Ensembl chrNW_004955413:24,264,726...24,289,434
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G |
Mief1 |
mitochondrial elongation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:25,387,399...25,401,484
Ensembl chrNW_004955413:25,387,399...25,401,484
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G |
Mpst |
mercaptopyruvate sulfurtransferase |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:23,538,648...23,543,132
Ensembl chrNW_004955413:23,538,648...23,547,120
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G |
Mrtfa |
myocardin related transcription factor A |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:26,139,060...26,311,272
Ensembl chrNW_004955413:26,139,843...26,222,580
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G |
Myh9 |
myosin heavy chain 9 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:22,881,759...22,972,182
Ensembl chrNW_004955413:22,881,045...22,972,450
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G |
Naga |
alpha-N-acetylgalactosaminidase |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:27,463,931...27,472,273
Ensembl chrNW_004955413:27,461,998...27,472,273
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G |
Ncf4 |
neutrophil cytosolic factor 4 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:23,388,456...23,405,121
Ensembl chrNW_004955413:23,388,018...23,408,090
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G |
Ndufa6 |
NADH:ubiquinone oxidoreductase subunit A6 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:27,485,678...27,491,757
Ensembl chrNW_004955413:27,485,678...27,491,757
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G |
Nol12 |
nucleolar protein 12 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,079,183...24,085,008
Ensembl chrNW_004955413:24,078,349...24,086,210
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G |
Nptxr |
neuronal pentraxin receptor |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,924,464...24,941,417
Ensembl chrNW_004955413:24,925,784...24,942,292
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G |
Pdgfb |
platelet derived growth factor subunit B |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987
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G |
Pdxp |
pyridoxal phosphatase |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,055,900...24,063,902
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G |
Pheta2 |
PH domain containing endocytic trafficking adaptor 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:27,475,658...27,480,879
Ensembl chrNW_004955413:27,475,658...27,480,879
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G |
Phf5a |
PHD finger protein 5A |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:27,018,730...27,026,937
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G |
Pick1 |
protein interacting with PRKCA 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,383,130...24,399,092
Ensembl chrNW_004955413:24,383,130...24,399,196
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G |
Pla2g6 |
phospholipase A2 group VI |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:24,431,592...24,482,229
Ensembl chrNW_004955413:24,429,589...24,482,537
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G |
Pmm1 |
phosphomannomutase 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:27,090,291...27,097,088
Ensembl chrNW_004955413:27,090,291...27,097,088
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G |
Polr2f |
RNA polymerase II, I and III subunit F |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:24,300,340...24,309,798
Ensembl chrNW_004955413:24,300,340...24,311,166
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G |
Polr3h |
RNA polymerase III subunit H |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:27,065,785...27,072,432
Ensembl chrNW_004955413:27,065,785...27,072,432
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G |
Pvalb |
parvalbumin |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:23,329,467...23,345,487
Ensembl chrNW_004955413:23,329,467...23,345,487
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G |
Rac2 |
Rac family small GTPase 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:23,697,504...23,710,668
Ensembl chrNW_004955413:23,693,669...23,710,704
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G |
Rangap1 |
Ran GTPase activating protein 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:26,869,487...26,894,192
Ensembl chrNW_004955413:26,867,812...26,890,284
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G |
Rasd2 |
RASD family member 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955405:43,191,530...43,196,057
Ensembl chrNW_004955405:43,191,480...43,196,085
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G |
Rbfox2 |
RNA binding fox-1 homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:22,034,048...22,288,430
Ensembl chrNW_004955413:22,035,837...22,287,763
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G |
Rbx1 |
ring-box 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:26,579,759...26,592,980
Ensembl chrNW_004955413:26,579,759...26,592,980
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G |
Rpl3 |
ribosomal protein L3 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:25,217,777...25,224,052
Ensembl chrNW_004955413:25,217,777...25,224,052
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G |
Rps19bp1 |
ribosomal protein S19 binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:25,412,621...25,415,924
Ensembl chrNW_004955413:25,412,341...25,416,086
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G |
Septin3 |
septin 3 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:27,381,103...27,400,899
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G |
Sgsm3 |
small G protein signaling modulator 3 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:26,094,170...26,139,062
Ensembl chrNW_004955413:26,094,146...26,142,219
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G |
Sh3bp1 |
SH3 domain binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:24,042,875...24,054,826
Ensembl chrNW_004955413:24,042,875...24,055,041
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G |
Shisa8 |
shisa family member 8 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:27,328,632...27,330,304
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G |
Slc16a8 |
solute carrier family 16 member 8 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:24,400,621...24,406,754
Ensembl chrNW_004955413:24,400,826...24,405,208
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G |
Slc25a17 |
solute carrier family 25 member 17 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:26,423,805...26,474,158
Ensembl chrNW_004955413:26,421,834...26,474,199
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G |
Smdt1 |
single-pass membrane protein with aspartate rich tail 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:27,480,938...27,485,729
Ensembl chrNW_004955413:27,480,938...27,485,729
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G |
Snu13 |
small nuclear ribonucleoprotein 13 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:27,160,985...27,172,648
Ensembl chrNW_004955413:27,159,816...27,172,696
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G |
Sox10 |
SRY-box transcription factor 10 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:24,313,311...24,323,112
Ensembl chrNW_004955413:24,311,783...24,323,315
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G |
Srebf2 |
sterol regulatory element binding transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:27,271,717...27,326,655
Ensembl chrNW_004955413:27,271,953...27,326,759
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G |
Sstr3 |
somatostatin receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:23,677,693...23,683,939
Ensembl chrNW_004955413:23,677,693...23,683,939
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G |
St13 |
ST13 Hsp70 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:26,478,579...26,507,671
Ensembl chrNW_004955413:26,476,469...26,507,671
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G |
Sun2 |
Sad1 and UNC84 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:24,851,626...24,868,352
Ensembl chrNW_004955413:24,851,626...24,865,575
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G |
Syngr1 |
synaptogyrin 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:25,244,679...25,269,725
Ensembl chrNW_004955413:25,244,647...25,269,725
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G |
Tab1 |
TGF-beta activated kinase 1 (MAP3K7) binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:25,290,733...25,315,267
Ensembl chrNW_004955413:25,290,828...25,313,969
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G |
Tef |
TEF transcription factor, PAR bZIP family member |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:26,956,285...26,978,734
Ensembl chrNW_004955413:26,956,285...26,979,045
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G |
Tmem184b |
transmembrane protein 184B |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,506,026...24,534,054
Ensembl chrNW_004955413:24,506,026...24,534,053
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G |
Tmprss6 |
transmembrane serine protease 6 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:23,579,946...23,615,277
Ensembl chrNW_004955413:23,580,530...23,612,276
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G |
Tnfrsf13c |
TNF receptor superfamily member 13C |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:27,341,977...27,344,009
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G |
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 chrNW_004955413:25,820,428...26,060,681
Ensembl chrNW_004955413:25,886,077...26,048,546
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G |
Tob2 |
transducer of ERBB2, 2 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:26,999,955...27,010,091
Ensembl chrNW_004955413:26,999,955...27,010,156
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G |
Tomm22 |
translocase of outer mitochondrial membrane 22 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:24,799,735...24,801,820
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G |
Tst |
thiosulfate sulfurtransferase |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:23,528,468...23,534,890
Ensembl chrNW_004955413:23,528,417...23,534,979
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G |
Txn2 |
thioredoxin 2 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:23,044,866...23,056,017
Ensembl chrNW_004955413:23,041,559...23,056,018
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G |
Wbp2nl |
WBP2 N-terminal like |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:27,402,614...27,442,106
Ensembl chrNW_004955413:27,402,545...27,436,906
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G |
Xpnpep3 |
X-prolyl aminopeptidase 3 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:26,507,860...26,564,105
Ensembl chrNW_004955413:26,507,860...26,566,826
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G |
Xrcc6 |
X-ray repair cross complementing 6 |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:27,135,785...27,158,344
Ensembl chrNW_004955413:27,135,805...27,159,750
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G |
Zc3h7b |
zinc finger CCCH-type containing 7B |
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ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:26,907,883...26,951,352
Ensembl chrNW_004955413:26,925,943...26,951,040
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G |
Umod |
uromodulin |
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ISO |
ClinVar Annotator: match by term: Glomerulocystic kidney disease with hyperuricemia and isosthenuria | ClinVar Annotator: match by term: Medullary cystic kidney disease 2 | ClinVar Annotator: match by term: Medullary cystic kidney disease 2, autosomal dominant | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 | ClinVar Annotator: match by term: UMOD-Associated Kidney Disease | ClinVar Annotator: match by term: UMOD-related condition | ClinVar Annotator: match by term: Uromodulin-associated kidney disease |
OMIM ClinVar |
PMID:7396593 PMID:9536098 PMID:10330352 PMID:12205338 PMID:12471200 PMID:12519891 PMID:12629136 PMID:12634862 PMID:14531790 PMID:14569098 PMID:14570709 PMID:15253706 PMID:15589826 PMID:16135773 PMID:16883323 PMID:17010121 PMID:17245395 PMID:17576681 PMID:18004297 PMID:19465746 PMID:20172860 PMID:20472742 PMID:21060763 PMID:21868615 PMID:22117067 PMID:22693617 PMID:23748428 PMID:23988501 PMID:24961278 PMID:25741868 PMID:26467025 PMID:27729211 PMID:27795632 PMID:28492532 PMID:28781372 PMID:28990932 PMID:29204651 PMID:29212948 PMID:30099615 PMID:30773290 PMID:31068150 PMID:31509055 PMID:31822006 PMID:32274456 PMID:32450155 PMID:32926855 PMID:32954071 PMID:33532864 PMID:33574344 PMID:34519781 More...
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NCBI chrNW_004955442:3,986,936...4,001,155
Ensembl chrNW_004955442:3,985,308...3,999,598
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G |
Upb1 |
beta-ureidopropionase 1 |
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ISO |
ClinVar Annotator: match by term: Beta-ureidopropionase deficiency |
OMIM ClinVar |
PMID:11783491 PMID:15385443 PMID:16199547 PMID:17065070 PMID:17964839 PMID:22525402 PMID:23238479 PMID:24033266 PMID:24123366 PMID:24526388 PMID:25236466 PMID:25445412 PMID:25638458 PMID:25741868 PMID:25741913 PMID:27553092 PMID:28492532 PMID:30109123 PMID:30608453 PMID:31180159 PMID:35151535 PMID:35926322 More...
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NCBI chrNW_004955455:7,961,296...7,992,235
Ensembl chrNW_004955455:7,961,264...7,995,946
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G |
Dpyd |
dihydropyrimidine dehydrogenase |
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ISO |
ClinVar Annotator: match by term: 5-fluorouracil toxicity | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar Annotator: match by term: Hereditary Thymine-Uraciluria | ClinVar Annotator: match by term: Pyrimidinemia familial |
OMIM ClinVar |
PMID:1648430 PMID:2464834 PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9010022 PMID:9254861 PMID:9266349 PMID:9323575 PMID:9439663 PMID:9470816 PMID:9472650 PMID:9686374 PMID:9721209 PMID:9865912 PMID:10071185 PMID:10657402 PMID:10671643 PMID:10803677 PMID:11156223 PMID:11179210 PMID:11350878 PMID:11555601 PMID:11783493 PMID:11875367 PMID:11895907 PMID:11953843 PMID:11988088 PMID:12164772 PMID:12209976 PMID:12360106 PMID:12562666 PMID:12851836 PMID:12885330 PMID:12912951 PMID:14635116 PMID:15017333 PMID:15102667 PMID:15132136 PMID:15571261 PMID:15591715 PMID:15858133 PMID:15890268 PMID:15899693 PMID:16033824 PMID:16115930 PMID:16151913 PMID:16361556 PMID:16719540 PMID:17000684 PMID:17000685 PMID:17046731 PMID:17064846 PMID:17121937 PMID:17165084 PMID:17203168 PMID:17335544 PMID:17417073 PMID:17563256 PMID:17700593 PMID:17828463 PMID:17848752 PMID:17876700 PMID:17905396 PMID:18006695 PMID:18299612 PMID:18443386 PMID:18452418 PMID:18600527 PMID:18600544 PMID:18619742 PMID:18937829 PMID:19104657 PMID:19287123 PMID:19288105 PMID:19473056 PMID:19530960 PMID:19795123 PMID:19822137 PMID:19858398 PMID:20385995 PMID:20507294 PMID:20530282 PMID:20647221 PMID:20803296 PMID:20809970 PMID:20819423 PMID:20920994 PMID:20981092 PMID:21077799 PMID:21114665 PMID:21228398 PMID:21410976 PMID:21412232 PMID:21420945 PMID:21498394 PMID:21590448 PMID:21723269 PMID:21833589 PMID:21878539 PMID:21919607 PMID:22339448 PMID:22353294 PMID:22490566 PMID:22992668 PMID:22995991 PMID:23042115 PMID:23139054 PMID:23199091 PMID:23238479 PMID:23328581 PMID:23335937 PMID:23481061 PMID:23517808 PMID:23585145 PMID:23588312 PMID:23596069 PMID:23603345 PMID:23736036 PMID:23781135 PMID:23930673 PMID:23942539 PMID:23960437 PMID:23988873 PMID:24037119 PMID:24107927 PMID:24167597 PMID:24310106 PMID:24326041 PMID:24388031 PMID:24434920 PMID:24590654 PMID:24647007 PMID:24648345 PMID:24700034 PMID:24817302 PMID:24923815 PMID:24943064 PMID:25087612 PMID:25110414 PMID:25117664 PMID:25381393 PMID:25410891 PMID:25420024 PMID:25565930 PMID:25590979 PMID:25677447 PMID:25741868 PMID:25741916 PMID:25782327 PMID:25826134 PMID:26099996 PMID:26216193 PMID:26254383 PMID:26265035 PMID:26265346 PMID:26330892 PMID:26467025 PMID:26505400 PMID:26551538 PMID:26603945 PMID:26621101 PMID:26623034 PMID:26651493 PMID:26658227 PMID:26716401 PMID:26792652 PMID:26794347 PMID:26804235 PMID:26804652 PMID:26846104 PMID:26894782 PMID:26967565 PMID:27122156 PMID:27248859 PMID:27281625 PMID:27311679 PMID:27454530 PMID:27544765 PMID:27701067 PMID:27727460 PMID:27738344 PMID:27752409 PMID:27864592 PMID:27884173 PMID:27995989 PMID:28024938 PMID:28027897 PMID:28112993 PMID:28128059 PMID:28237406 PMID:28262261 PMID:28295243 PMID:28395758 PMID:28427087 PMID:28481884 PMID:28492532 PMID:28572524 PMID:28614820 PMID:28745575 PMID:28929491 PMID:28950804 PMID:29045550 PMID:29065426 PMID:29134491 PMID:29152729 PMID:29236957 PMID:29239269 PMID:29327356 PMID:29769267 PMID:29778030 PMID:29846282 PMID:29889674 PMID:29998006 PMID:30114658 PMID:30348537 PMID:30349988 PMID:30485432 PMID:30510603 PMID:30723313 PMID:30775324 PMID:30858516 PMID:30898145 PMID:30945278 PMID:31382864 PMID:31486738 PMID:31589614 PMID:31745289 PMID:32378051 PMID:32529295 PMID:32595208 PMID:32619063 PMID:32707991 PMID:32899374 PMID:32973300 PMID:33232506 PMID:33410339 PMID:33620159 PMID:33965356 PMID:34055682 PMID:34916829 PMID:35306539 PMID:36430399 More...
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NCBI chrNW_004955435:2,007,185...2,800,907
Ensembl chrNW_004955435:2,007,185...2,766,138
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G |
A1cf |
APOBEC1 complementation factor |
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ISO |
DNA:SNP: :rs10821905 (human) |
RGD |
PMID:28252667 PMID:28679452 |
RGD:13831119 RGD:13831120 |
NCBI chrNW_004955425:5,992,538...6,077,769
Ensembl chrNW_004955425:5,992,538...6,077,770
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G |
Abcg2 |
ATP binding cassette subfamily G member 2 (JR blood group) |
susceptibility |
ISO |
ClinVar Annotator: match by term: GOUT SUSCEPTIBILITY 1 DNA:SNP:exon:rs2231142(human) |
OMIM ClinVar RGD |
PMID:16702730 PMID:16784736 PMID:18834626 PMID:19474787 PMID:19506252 PMID:20130569 PMID:20207952 PMID:20368174 PMID:20679960 PMID:22112610 PMID:22246505 PMID:22246507 PMID:22992668 PMID:23876492 PMID:23930675 PMID:25630984 PMID:25741868 PMID:28322941 PMID:29751792 PMID:29950617 PMID:31857620 PMID:32361904 More...
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RGD:13439747 |
NCBI chrNW_004955474:12,365,903...12,408,715
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G |
Adrb3 |
adrenoceptor beta 3 |
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ISO |
DNA:missense mutation:cds:p.W64R rs4994 (human) |
RGD |
PMID:21285172 |
RGD:5684422 |
NCBI chrNW_004955463:13,663,064...13,665,553
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G |
Aldh16a1 |
aldehyde dehydrogenase 16 family member A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21983786 |
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NCBI chrNW_004955559:1,376,862...1,390,861
Ensembl chrNW_004955559:1,376,977...1,390,841
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G |
Alpk1 |
alpha kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27542954 |
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NCBI chrNW_004955457:14,325,278...14,444,368
Ensembl chrNW_004955457:14,325,281...14,379,937
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G |
Cd14 |
CD14 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26462562 |
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NCBI chrNW_004955418:73,736...75,345
Ensembl chrNW_004955418:73,897...75,224
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G |
Dars2 |
aspartyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Gout |
ClinVar |
PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 PMID:23652419 PMID:24005482 PMID:24407472 PMID:24566671 PMID:25525159 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33977142 PMID:34426522 PMID:35379322 More...
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NCBI chrNW_004955406:13,964,087...13,991,691
Ensembl chrNW_004955406:13,964,087...13,991,691
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G |
Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26462562 |
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NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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G |
Il1rn |
interleukin 1 receptor antagonist |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18403674 |
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NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
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G |
Il33 |
interleukin 33 |
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ISO |
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RGD |
PMID:30863362 |
RGD:40400717 |
NCBI chrNW_004955434:10,145,449...10,187,595
Ensembl chrNW_004955434:10,171,812...10,188,948
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G |
Prps1 |
phosphoribosyl pyrophosphate synthetase 1 |
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ISO |
N113S, D182H |
RGD |
PMID:8253776 |
RGD:1599725 |
NCBI chrNW_004955490:8,303,775...8,330,713
Ensembl chrNW_004955490:8,303,775...8,330,713
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G |
Slc17a3 |
solute carrier family 17 member 3 |
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ISO |
ClinVar Annotator: match by term: GOUT SUSCEPTIBILITY 4 |
ClinVar OMIM |
PMID:20810651 |
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NCBI chrNW_004955483:1,235,122...1,260,161
Ensembl chrNW_004955483:1,234,975...1,260,158
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G |
Slc2a9 |
solute carrier family 2 member 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18327256 PMID:18327257 |
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NCBI chrNW_004955514:5,479,585...5,625,328
Ensembl chrNW_004955514:5,479,585...5,625,223
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G |
Tgfb1 |
transforming growth factor beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36850003 |
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NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
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G |
Mmp2 |
matrix metallopeptidase 2 |
severity |
ISO |
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RGD |
PMID:14687896 |
RGD:8547877 |
NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
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G |
Mmp9 |
matrix metallopeptidase 9 |
severity |
ISO |
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RGD |
PMID:14687896 |
RGD:8547877 |
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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G |
Pomc |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:8035395 |
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NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386
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G |
Aldh16a1 |
aldehyde dehydrogenase 16 family member A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23348497 |
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NCBI chrNW_004955559:1,376,862...1,390,861
Ensembl chrNW_004955559:1,376,977...1,390,841
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G |
Ccdc160 |
coiled-coil domain containing 160 |
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ISO |
ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
ClinVar |
PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 PMID:23975452 PMID:28492532 More...
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NCBI chrNW_004955473:725,822...742,698
Ensembl chrNW_004955473:725,193...736,944
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G |
Gpc3 |
glypican 3 |
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ISO |
ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
ClinVar |
PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 PMID:23975452 PMID:28492532 More...
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NCBI chrNW_004955473:969,627...1,431,706
Ensembl chrNW_004955473:969,800...1,431,483
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G |
Hprt1 |
hypoxanthine phosphoribosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: HPRT1-Related Disorders | ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
OMIM ClinVar |
PMID:1301916 PMID:1483694 PMID:1487231 PMID:1551676 PMID:1618489 PMID:1781350 PMID:1840549 PMID:1937471 PMID:2071157 PMID:2246854 PMID:2323782 PMID:2347587 PMID:2516172 PMID:2738157 PMID:2896620 PMID:2928313 PMID:3198771 PMID:3358423 PMID:3384338 PMID:6087154 PMID:6204922 PMID:6309910 PMID:6706936 PMID:7987318 PMID:8111415 PMID:8125482 PMID:9288634 PMID:9536098 PMID:9799086 PMID:10518289 PMID:10737990 PMID:10767182 PMID:11018746 PMID:11068166 PMID:11891689 PMID:15386453 PMID:15505382 PMID:15571220 PMID:16199547 PMID:16549399 PMID:17027311 PMID:17454734 PMID:17483691 PMID:17576681 PMID:18600506 PMID:18779430 PMID:19016344 PMID:20176575 PMID:20638392 PMID:20981450 PMID:22132984 PMID:22157001 PMID:22999896 PMID:23597535 PMID:23975452 PMID:25136576 PMID:25481104 PMID:25741868 PMID:27288985 PMID:28045594 PMID:28492532 PMID:29185864 More...
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NCBI chrNW_004955473:462,940...510,006
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G |
Phf6 |
PHD finger protein 6 |
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ISO |
ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
ClinVar |
PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 PMID:23975452 PMID:28492532 More...
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NCBI chrNW_004955473:527,005...586,589
Ensembl chrNW_004955473:527,005...586,627
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G |
Hprt1 |
hypoxanthine phosphoribosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Lesch-Nyhan syndrome |
OMIM ClinVar |
PMID:1301916 PMID:1434518 PMID:1551676 PMID:1618489 PMID:1639405 PMID:1781350 PMID:1840549 PMID:1937471 PMID:2071157 PMID:2323782 PMID:2347587 PMID:2516172 PMID:2738157 PMID:2760209 PMID:2910902 PMID:2928313 PMID:3198771 PMID:3384338 PMID:3909940 PMID:3944251 PMID:6087154 PMID:6309910 PMID:6853716 PMID:8664901 PMID:9288634 PMID:10737990 PMID:10767182 PMID:11018746 PMID:11668636 PMID:15386453 PMID:15505382 PMID:15571220 PMID:16199547 PMID:16549399 PMID:17027311 PMID:17454734 PMID:17483691 PMID:18779430 PMID:19016344 PMID:20176575 PMID:20638392 PMID:20981450 PMID:22132984 PMID:22157001 PMID:22999896 PMID:23975452 PMID:25481104 PMID:25741868 PMID:27288985 PMID:28492532 PMID:28708303 PMID:31182398 More...
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NCBI chrNW_004955473:462,940...510,006
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G |
Hprt1 |
hypoxanthine phosphoribosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Lesch-nyhan syndrome, neurologic variant |
ClinVar |
PMID:1301916 PMID:2358296 PMID:10737990 PMID:17454734 PMID:20981450 PMID:22157001 PMID:22999896 PMID:25481104 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004955473:462,940...510,006
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G |
Aldh6a1 |
aldehyde dehydrogenase 6 family member A1 |
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ISO |
ClinVar Annotator: match by term: Methylmalonate semialdehyde dehydrogenase deficiency |
OMIM ClinVar |
PMID:3117077 PMID:3939535 PMID:10947204 PMID:11446412 PMID:21863277 PMID:23835272 PMID:25741868 PMID:25741916 PMID:28492532 PMID:32151545 More...
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NCBI chrNW_004955523:1,343,545...1,369,080
Ensembl chrNW_004955523:1,343,545...1,369,073
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G |
Bbof1 |
basal body orientation factor 1 |
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ISO |
ClinVar Annotator: match by term: Methylmalonate semialdehyde dehydrogenase deficiency |
ClinVar |
PMID:3117077 PMID:3939535 PMID:10947204 PMID:11446412 PMID:21863277 PMID:23835272 PMID:25741868 PMID:25741916 PMID:28492532 PMID:32151545 More...
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NCBI chrNW_004955523:1,363,246...1,405,022
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Ampd1 |
adenosine monophosphate deaminase 1 |
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ISO |
ClinVar Annotator: match by term: Muscle AMP deaminase deficiency |
OMIM ClinVar |
PMID:1631143 PMID:1922051 PMID:8335021 PMID:9536098 PMID:10996775 PMID:11102975 PMID:12117480 PMID:14499869 PMID:15173240 PMID:15378456 PMID:16199547 PMID:17576681 PMID:18619730 PMID:19353846 PMID:21343608 PMID:24503134 PMID:25155876 PMID:25741868 PMID:28492532 PMID:29095874 PMID:31847883 PMID:34490048 More...
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NCBI chrNW_004955435:17,962,487...17,991,625
Ensembl chrNW_004955435:17,962,514...17,991,556
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Umps |
uridine monophosphate synthetase |
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ISO |
ClinVar Annotator: match by term: Hereditary orotic aciduria, type 1 | ClinVar Annotator: match by term: Orotic aciduria | ClinVar Annotator: match by term: UMPS-related condition |
OMIM ClinVar |
PMID:9042911 PMID:16199547 PMID:25741868 PMID:25757096 PMID:28205048 PMID:28263315 PMID:28492532 More...
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NCBI chrNW_004955427:23,825,529...23,841,427
Ensembl chrNW_004955427:23,825,523...23,841,152
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Prps1 |
phosphoribosyl pyrophosphate synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Phosphoribosylpyrophosphate synthetase superactivity |
OMIM ClinVar |
PMID:171280 PMID:1664177 PMID:6243137 PMID:7593598 PMID:8253776 PMID:17701900 PMID:19161981 PMID:20301731 PMID:24033266 PMID:25741868 PMID:26089585 PMID:28492532 PMID:28967191 More...
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NCBI chrNW_004955490:8,303,775...8,330,713
Ensembl chrNW_004955490:8,303,775...8,330,713
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Tpmt |
thiopurine S-methyltransferase |
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ISO |
ClinVar Annotator: match by term: THIOPURINES, POOR METABOLISM OF, 1 |
OMIM ClinVar |
PMID:8561894 PMID:9931345 PMID:25741868 |
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NCBI chrNW_004955483:8,052,867...8,072,235
Ensembl chrNW_004955483:8,052,849...8,072,764
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Nudt15 |
nudix hydrolase 15 |
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ISO |
ClinVar Annotator: match by term: Thiopurines, poor metabolism of, 2 |
OMIM ClinVar |
PMID:22992668 PMID:25108385 PMID:25624441 PMID:25741868 PMID:26033531 PMID:26076924 PMID:26405151 PMID:26503813 PMID:26590936 PMID:26735160 PMID:26878724 PMID:27095468 PMID:27193222 PMID:27416873 PMID:27558924 PMID:27577869 PMID:27604507 PMID:28088792 PMID:28146264 PMID:28418010 PMID:28445187 PMID:28659275 PMID:29702976 PMID:29704867 PMID:29720126 PMID:29867468 PMID:29923122 PMID:29967377 PMID:30035323 PMID:30048756 PMID:30101994 PMID:30728528 PMID:31024313 More...
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NCBI chrNW_004955431:1,767,971...1,775,555
Ensembl chrNW_004955431:1,767,525...1,775,555
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Apex1 |
apurinic/apyrimidinic endodeoxyribonuclease 1 |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:1,273,170...1,275,843
Ensembl chrNW_004955550:1,273,284...1,279,743
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Arhgef40 |
Rho guanine nucleotide exchange factor 40 |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:1,837,903...1,854,490
Ensembl chrNW_004955550:1,837,899...1,856,005
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Chd8 |
chromodomain helicase DNA binding protein 8 |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:2,115,649...2,175,687
Ensembl chrNW_004955550:2,115,649...2,175,181
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Hnrnpc |
heterogeneous nuclear ribonucleoprotein C |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:1,949,975...2,002,297
Ensembl chrNW_004955550:1,949,975...2,002,297
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LOC102009550 |
olfactory receptor 5AU1 |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:1,921,231...1,923,589
Ensembl chrNW_004955550:1,921,231...1,923,223
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LOC102026574 |
olfactory receptor 6S1 |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:1,434,291...1,438,383
Ensembl chrNW_004955550:1,434,291...1,438,383
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Mettl17 |
methyltransferase like 17 |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:1,747,234...1,755,136
Ensembl chrNW_004955550:1,747,994...1,756,790
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Mettl3 |
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:2,211,270...2,227,715
Ensembl chrNW_004955550:2,211,270...2,227,715
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Ndrg2 |
NDRG family member 2 |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:1,771,514...1,778,693
Ensembl chrNW_004955550:1,767,911...1,780,635
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Osgep |
O-sialoglycoprotein endopeptidase |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:1,266,191...1,273,093
Ensembl chrNW_004955550:1,265,401...1,273,299
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Pip4p1 |
phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:1,275,921...1,279,262
Ensembl chrNW_004955550:1,275,921...1,279,270
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Pnp |
purine nucleoside phosphorylase |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
OMIM ClinVar |
PMID:1384322 PMID:1560016 PMID:3029074 PMID:8931706 PMID:9067751 PMID:9536098 PMID:9737781 PMID:11453975 PMID:12483996 PMID:15571269 PMID:16199547 PMID:17407325 PMID:17576681 PMID:19759001 PMID:22132981 PMID:22578971 PMID:22669887 PMID:23371835 PMID:24033266 PMID:24767876 PMID:25741868 PMID:25741916 PMID:28492532 PMID:30778343 PMID:31130284 PMID:32514656 PMID:32695102 PMID:33628209 More...
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NCBI chrNW_004955550:1,290,816...1,299,553
Ensembl chrNW_004955550:1,290,244...1,298,068
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Rab2b |
RAB2B, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:2,180,326...2,195,523
Ensembl chrNW_004955550:2,180,326...2,195,523
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Rnase10 |
ribonuclease A family member 10 (inactive) |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:1,326,203...1,331,558
Ensembl chrNW_004955550:1,328,294...1,331,558
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Rnase11 |
ribonuclease A family member 11 (inactive) |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:1,386,452...1,387,057
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Rnase12 |
ribonuclease A family member 12 (inactive) |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:1,399,335...1,400,310
Ensembl chrNW_004955550:1,399,335...1,400,310
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Rnase13 |
ribonuclease A family member 13 (inactive) |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:1,786,550...1,800,191
Ensembl chrNW_004955550:1,786,550...1,800,191
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Rnase6 |
ribonuclease A family member k6 |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:1,687,068...1,688,160
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Rnase7 |
ribonuclease A family member 7 |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:1,796,301...1,797,801
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Rnase9 |
ribonuclease A family member 9 (inactive) |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:1,371,792...1,372,355
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Rpgrip1 |
RPGR interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:2,015,319...2,073,627
Ensembl chrNW_004955550:2,021,838...2,073,498
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Sall2 |
spalt like transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:2,236,129...2,250,829
Ensembl chrNW_004955550:2,237,677...2,250,829
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Slc39a2 |
solute carrier family 39 member 2 |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:1,762,905...1,765,254
Ensembl chrNW_004955550:1,762,907...1,765,254
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Supt16h |
SPT16 homolog, facilitates chromatin remodeling subunit |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:2,074,646...2,114,634
Ensembl chrNW_004955550:2,074,941...2,114,528
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Tmem253 |
transmembrane protein 253 |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:1,862,781...1,867,230
Ensembl chrNW_004955550:1,862,719...1,866,822
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Tox4 |
TOX high mobility group box family member 4 |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:2,195,710...2,209,729
Ensembl chrNW_004955550:2,195,710...2,209,729
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Tppp2 |
tubulin polymerization promoting protein family member 2 |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:1,779,405...1,785,385
Ensembl chrNW_004955550:1,779,375...1,785,575
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Znf219 |
zinc finger protein 219 |
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ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
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NCBI chrNW_004955550:1,854,330...1,861,836
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Tpmt |
thiopurine S-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Thiopurine methyltransferase deficiency |
ClinVar |
PMID:1960624 PMID:7862671 PMID:8561894 PMID:8644731 PMID:9177237 PMID:9246020 PMID:9931345 PMID:9931346 PMID:10208641 PMID:10751626 PMID:15819814 PMID:16476125 PMID:17885628 PMID:25741868 More...
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NCBI chrNW_004955483:8,052,867...8,072,235
Ensembl chrNW_004955483:8,052,849...8,072,764
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Srd5a2 |
steroid 5 alpha-reductase 2 |
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ISO |
ClinVar Annotator: match by term: XDH deficiency |
ClinVar |
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NCBI chrNW_004955441:12,149...95,733
Ensembl chrNW_004955441:10,443...95,743
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Mocos |
molybdenum cofactor sulfurase |
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ISO |
ClinVar Annotator: match by term: Xanthinuria type II |
OMIM ClinVar |
PMID:9536098 PMID:11302742 PMID:14624414 PMID:16199547 PMID:17368066 PMID:17576681 PMID:25741868 PMID:25967871 PMID:28492532 PMID:29935280 PMID:34440436 More...
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NCBI chrNW_004955402:22,754,034...22,808,428
Ensembl chrNW_004955402:22,754,064...22,808,167
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Srd5a2 |
steroid 5 alpha-reductase 2 |
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ISO |
ClinVar Annotator: match by term: Xanthinuria type II |
ClinVar |
PMID:18384427 PMID:28492532 |
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NCBI chrNW_004955441:12,149...95,733
Ensembl chrNW_004955441:10,443...95,743
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