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G |
Arsg |
arylsulfatase G |
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ISS |
OMIM:252700 |
MouseDO |
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NCBI chr10:94,412,261...94,551,224
Ensembl chr10:94,447,399...94,542,941
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G |
Arsk |
arylsulfatase family, member K |
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ISS |
OMIM:252700 |
MouseDO |
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NCBI chr 2:5,575,727...5,631,370
Ensembl chr 2:5,574,322...5,631,467
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G |
Card14 |
caspase recruitment domain family, member 14 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidoses |
ClinVar |
PMID:9158154 PMID:9285796 PMID:9401012 PMID:9700599 PMID:10601282 PMID:11343308 PMID:12490062 PMID:15146460 PMID:18407553 PMID:21061399 PMID:22976768 PMID:22976788 PMID:24816101 PMID:25741868 PMID:26331342 PMID:26648750 PMID:26787381 PMID:28492532 PMID:30809705 PMID:31536183 More...
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NCBI chr10:104,572,059...104,601,606
Ensembl chr10:104,566,424...104,601,905
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G |
Gusb |
glucuronidase, beta |
disease_progression |
IEP |
protein:decreases activity:spleen, kidney, lung (rat) |
RGD |
PMID:2879381 |
RGD:42724461 |
NCBI chr12:26,701,191...26,714,718
Ensembl chr12:26,697,951...26,726,905
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G |
Hgsnat |
heparan-alpha-glucosaminide N-acetyltransferase |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis |
ClinVar |
PMID:17033958 PMID:18024218 PMID:19479962 PMID:19823584 PMID:20583299 PMID:20825431 PMID:25741868 PMID:27827379 PMID:28492532 PMID:31536183 More...
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NCBI chr16:66,105,233...66,137,444
Ensembl chr16:66,105,181...66,136,138
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G |
Hyal1 |
hyaluronidase 1 |
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ISO |
mucopolysaccharidosis IX, OMIM:601492 |
RGD |
PMID:10339581 |
RGD:1599811 |
NCBI chr 8:108,250,654...108,254,526
Ensembl chr 8:108,250,667...108,260,210
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G |
Idua |
alpha-L-iduronidase |
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ISO |
ClinVar Annotator: match by term: IDUA pseudodeficiency |
ClinVar |
PMID:8554071 PMID:28492532 |
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NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522
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G |
Naglu |
N-acetyl-alpha-glucosaminidase |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis |
ClinVar |
PMID:8650226 PMID:9443875 PMID:9832037 PMID:9950362 PMID:10094189 PMID:11068184 PMID:16151907 PMID:20040070 PMID:20852935 PMID:21204211 PMID:21712855 PMID:22976768 PMID:23084433 PMID:23667853 PMID:25256447 PMID:25520920 PMID:25741868 PMID:26907177 PMID:27590925 PMID:28306536 PMID:28492532 PMID:28836185 PMID:29661560 PMID:29979746 PMID:31413257 PMID:31536183 PMID:217121855 More...
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NCBI chr10:86,001,545...86,009,049
Ensembl chr10:86,001,566...86,008,972
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G |
Sgsh |
N-sulfoglucosamine sulfohydrolase |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidoses | ClinVar Annotator: match by term: Mucopolysaccharidosis |
ClinVar |
PMID:9158154 PMID:9285796 PMID:9401012 PMID:9554748 PMID:9700599 PMID:9744479 PMID:10521831 PMID:10601282 PMID:11182930 PMID:11343308 PMID:12490062 PMID:15146460 PMID:15542396 PMID:18407553 PMID:21061399 PMID:21204211 PMID:21671382 PMID:21910976 PMID:22976768 PMID:22976788 PMID:24314109 PMID:24816101 PMID:25741868 PMID:26331342 PMID:26648750 PMID:26787381 PMID:28492532 PMID:28844463 PMID:29023963 PMID:30809705 PMID:31536183 PMID:32581362 More...
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NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486
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G |
Add1 |
adducin 1 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182
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G |
Atp5me |
ATP synthase membrane subunit e |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:1,319,868...1,320,996
Ensembl chr14:1,319,868...1,321,013
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G |
Cplx1 |
complexin 1 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:1,184,638...1,216,392
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G |
Ctbp1 |
C-terminal binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:77,455,580...77,482,821
Ensembl chr14:77,455,696...77,482,821
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G |
Dgkq |
diacylglycerol kinase, theta |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:1,059,125...1,073,131
Ensembl chr14:1,059,170...1,073,131
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G |
Fam193a |
family with sequence similarity 193, member A |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:76,250,103...76,382,525
Ensembl chr14:76,256,161...76,382,514
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G |
Fam53a |
family with sequence similarity 53, member A |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:77,088,178...77,124,395
Ensembl chr14:77,090,723...77,124,395
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
Fgfrl1 |
fibroblast growth factor receptor-like 1 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928
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G |
Gak |
cyclin G associated kinase |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:1,089,853...1,164,098
Ensembl chr14:1,089,866...1,216,398
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G |
Haus3 |
HAUS augmin-like complex, subunit 3 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:76,580,549...76,599,542
Ensembl chr14:76,580,546...76,752,463
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G |
Idua |
alpha-L-iduronidase |
treatment |
ISO |
DNA:nonsense mutation:CDS:p.W402X (human) ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency | ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 DNA:missense mutations, nonsense mutation: :multiple DNA:missense mutation, nonsense mutation: :p.P533R, p.Q10X (human) DNA:mutations:exon, intron:multiple DNA:insertion/deletion, missense mutations, nonsense mutation: :multiple DNA:splice-site mutations:intron:c.792+1G>T, c.1190-1G>A (human) DNA:insertion, missense mutation: :704_705CTGCT, p.R89Q (human) DNA:nonsense mutation: :p.W392X (mouse) CTD Direct Evidence: marker/mechanism|therapeutic |
ClinVar CTD RGD |
PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:1627351 PMID:2170400 PMID:2522450 PMID:4112371 PMID:4221470 PMID:6821579 PMID:7550232 PMID:7550242 PMID:7951228 PMID:8019563 PMID:8019572 PMID:8213840 PMID:8318992 PMID:8328452 PMID:8401515 PMID:8477267 PMID:8554071 PMID:8664897 PMID:8680403 PMID:9391892 PMID:9427149 PMID:9536098 PMID:9748610 PMID:9787109 PMID:10215409 PMID:10466419 PMID:10607946 PMID:10735634 PMID:10738517 PMID:10911525 PMID:11159948 PMID:11735025 PMID:11903343 PMID:12189649 PMID:12203999 PMID:12509712 PMID:12559846 PMID:12796790 PMID:14516901 PMID:14559116 PMID:15081804 PMID:15194053 PMID:15300847 PMID:15521993 PMID:15862278 PMID:16188808 PMID:16199547 PMID:16435195 PMID:16435211 PMID:16438163 PMID:17407067 PMID:17570076 PMID:17576681 PMID:17606547 PMID:18792977 PMID:18796143 PMID:19309154 PMID:19396826 PMID:19748810 PMID:19751987 PMID:19839758 PMID:20026495 PMID:20301341 PMID:21176924 PMID:21253827 PMID:21393040 PMID:21394825 PMID:21462124 PMID:21480867 PMID:21521498 PMID:21639919 PMID:21734815 PMID:21831683 PMID:21963080 PMID:22074387 PMID:22822036 PMID:22976768 PMID:23084433 PMID:23430557 PMID:23430803 PMID:23465405 PMID:23757202 PMID:23786846 PMID:23837464 PMID:23959878 PMID:24033266 PMID:24036510 PMID:24053568 PMID:24102521 PMID:24314423 PMID:24368159 PMID:24480078 PMID:24698225 PMID:24781210 PMID:24798265 PMID:24875751 PMID:25098213 PMID:25256405 PMID:25525159 PMID:25557439 PMID:25614311 PMID:25741868 PMID:26260077 PMID:26825088 PMID:27146977 PMID:27196898 PMID:27238910 PMID:27392569 PMID:27511503 PMID:27520059 PMID:27766162 PMID:27843123 PMID:27896125 PMID:27939258 PMID:28302345 PMID:28492532 PMID:28676128 PMID:28721335 PMID:28725570 PMID:28728811 PMID:28752568 PMID:29140481 PMID:29143201 PMID:29393969 PMID:29801497 PMID:29843745 PMID:29906569 PMID:29947050 PMID:29976218 PMID:30083803 PMID:30093709 PMID:30442156 PMID:30755342 PMID:30809705 PMID:30903511 PMID:31133280 PMID:31194252 PMID:31298590 PMID:31319022 PMID:31341245 PMID:31400021 PMID:31758674 PMID:32188113 PMID:32432561 PMID:32670797 PMID:33098355 PMID:33198351 PMID:33301762 PMID:33517895 PMID:33686258 PMID:34148116 PMID:1301196 PMID:7951228 PMID:1301941 PMID:27146977 PMID:15128896 PMID:15126990 PMID:17920451 PMID:18523448 PMID:16435195 PMID:9097952 PMID:24100243 PMID:21734815 PMID:21667973 PMID:8664897 PMID:25597593 PMID:12948739 PMID:19751987 PMID:17407189 PMID:15194053 More...
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RGD:1599894, RGD:11069860, RGD:11068482, RGD:12910721, RGD:12910720, RGD:12910719, RGD:12910718, RGD:12910716, RGD:12910516, RGD:12910513, RGD:12910510, RGD:12910509, RGD:12910508, RGD:12910504, RGD:12910503, RGD:12910502, RGD:12910501, RGD:12910499, RGD:12910497 |
NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522
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G |
Letm1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:76,942,647...76,982,220
Ensembl chr14:76,942,729...76,984,904
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G |
Maea |
macrophage erythroblast attacher, E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:77,357,261...77,390,683
Ensembl chr14:77,357,264...77,390,671
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G |
Mxd4 |
Max dimerization protein 4 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:76,562,105...76,576,224
Ensembl chr14:76,561,774...76,576,221
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G |
Nat8l |
N-acetyltransferase 8-like |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:76,756,077...76,762,712
Ensembl chr14:76,756,077...76,763,411
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G |
Nelfa |
negative elongation factor complex member A |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:76,808,920...76,832,998
Ensembl chr14:76,808,870...76,832,994
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G |
Nkx1-1 |
NK1 homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:77,296,676...77,300,575
Ensembl chr14:77,296,796...77,300,036
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G |
Nsd2 |
nuclear receptor binding SET domain protein 2 |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:76,833,194...76,911,304
Ensembl chr14:76,835,637...76,913,641
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G |
Pcgf3 |
polycomb group ring finger 3 |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:1,237,594...1,291,717
Ensembl chr14:1,233,947...1,291,793
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G |
Pde6b |
phosphodiesterase 6B |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
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G |
Pigg |
phosphatidylinositol glycan anchor biosynthesis, class G |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:1,404,911...1,433,199
Ensembl chr14:1,406,798...1,433,187
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G |
Poln |
DNA polymerase nu |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:76,579,983...76,752,460
Ensembl chr14:76,580,546...76,752,463
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G |
RGD1560394 |
RGD1560394 |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:76,768,145...76,769,774
Ensembl chr14:76,768,146...76,773,575
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G |
Rnf212 |
ring finger protein 212 |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:949,397...988,377
Ensembl chr14:949,448...987,831
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G |
Rnf4 |
ring finger protein 4 |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:76,401,292...76,423,270
Ensembl chr14:76,401,299...76,422,566
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G |
Sh3bp2 |
SH3-domain binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
|
NCBI chr14:76,176,097...76,213,331
Ensembl chr14:76,176,101...76,213,251
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G |
Slbp |
stem-loop binding protein |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:77,071,441...77,081,911
Ensembl chr14:77,071,632...77,081,906
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G |
Slc26a1 |
solute carrier family 26 member 1 |
|
ISO |
ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency | ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:1301941 PMID:1505961 PMID:6821579 PMID:7550232 PMID:7550242 PMID:7951228 PMID:8019563 PMID:8213840 PMID:8328452 PMID:8401515 PMID:8477267 PMID:8664897 PMID:9427149 PMID:9748610 PMID:9787109 PMID:10215409 PMID:11159948 PMID:11735025 PMID:12189649 PMID:12203999 PMID:12509712 PMID:14559116 PMID:15300847 PMID:15862278 PMID:16199547 PMID:16438163 PMID:18796143 PMID:19396826 PMID:19839758 PMID:21176924 PMID:21394825 PMID:21480867 PMID:21831683 PMID:22976768 PMID:23430803 PMID:23465405 PMID:23786846 PMID:24033266 PMID:24036510 PMID:24053568 PMID:24314423 PMID:24368159 PMID:24781210 PMID:25256405 PMID:25557439 PMID:25741868 PMID:27146977 PMID:27238910 PMID:27511503 PMID:27766162 PMID:27843123 PMID:27896125 PMID:27939258 PMID:28492532 PMID:28721335 PMID:28725570 PMID:28728811 PMID:28752568 PMID:29143201 PMID:29393969 PMID:29843745 PMID:30755342 PMID:31194252 PMID:32432561 More...
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NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849
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G |
Slc49a3 |
solute carrier family 49 member 3 |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:1,305,091...1,319,723
Ensembl chr14:1,305,680...1,314,132
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G |
Spon2 |
spondin 2 |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:77,505,695...77,518,001
Ensembl chr14:77,511,901...77,517,996
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G |
Tacc3 |
transforming, acidic coiled-coil containing protein 3 |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
|
NCBI chr14:77,051,209...77,065,343
Ensembl chr14:77,051,215...77,065,219
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G |
Tmem129 |
transmembrane protein 129, E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:77,065,391...77,070,871
Ensembl chr14:77,065,841...77,070,865
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G |
Tmem175 |
transmembrane protein 175 |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:1,073,410...1,089,764
Ensembl chr14:1,073,523...1,089,819
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G |
Tnip2 |
TNFAIP3 interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:76,228,283...76,246,609
Ensembl chr14:76,228,371...76,275,265
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G |
Uvssa |
UV-stimulated scaffold protein A |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
|
NCBI chr14:77,309,188...77,351,922
Ensembl chr14:77,314,056...77,351,903
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G |
Zfyve28 |
zinc finger FYVE-type containing 28 |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 |
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NCBI chr14:76,468,424...76,554,039
Ensembl chr14:76,468,424...76,554,039
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G |
Idua |
alpha-L-iduronidase |
|
ISO |
ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome | ClinVar Annotator: match by term: Hurler syndrome | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH |
OMIM ClinVar |
PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:2170400 PMID:2522450 PMID:4112371 PMID:4221470 PMID:6821579 PMID:7550232 PMID:7550242 PMID:7951228 PMID:8019563 PMID:8019572 PMID:8213840 PMID:8318992 PMID:8328452 PMID:8401515 PMID:8477267 PMID:8554071 PMID:8664897 PMID:8680403 PMID:9391892 PMID:9427149 PMID:9536098 PMID:9748610 PMID:9787109 PMID:10215409 PMID:10466419 PMID:10607946 PMID:10735634 PMID:10738517 PMID:10911525 PMID:11159948 PMID:11735025 PMID:11903343 PMID:12189649 PMID:12203999 PMID:12509712 PMID:12559846 PMID:12796790 PMID:14516901 PMID:14559116 PMID:15081804 PMID:15300847 PMID:15521993 PMID:15862278 PMID:16188808 PMID:16199547 PMID:16435195 PMID:16435211 PMID:16438163 PMID:17570076 PMID:17576681 PMID:17606547 PMID:18463126 PMID:18792977 PMID:18796143 PMID:19396826 PMID:19748810 PMID:19751987 PMID:19839758 PMID:20217237 PMID:20301341 PMID:21253827 PMID:21393040 PMID:21394825 PMID:21462124 PMID:21480867 PMID:21521498 PMID:21639919 PMID:21734815 PMID:21831683 PMID:21963080 PMID:22074387 PMID:22976768 PMID:23084433 PMID:23210910 PMID:23430557 PMID:23430803 PMID:23465405 PMID:23786846 PMID:23837464 PMID:24033266 PMID:24036510 PMID:24053568 PMID:24102521 PMID:24314423 PMID:24368159 PMID:24480078 PMID:24698225 PMID:24798265 PMID:24875751 PMID:25009127 PMID:25098213 PMID:25256405 PMID:25525159 PMID:25557439 PMID:25558755 PMID:25614311 PMID:25741868 PMID:26825088 PMID:27146977 PMID:27196898 PMID:27238910 PMID:27392569 PMID:27511503 PMID:27520059 PMID:27843123 PMID:27896125 PMID:27939258 PMID:28302345 PMID:28492532 PMID:28676128 PMID:28721335 PMID:28725570 PMID:28728811 PMID:28752568 PMID:29143201 PMID:29393969 PMID:29801497 PMID:29843745 PMID:29906569 PMID:29976218 PMID:30083803 PMID:30442156 PMID:30809705 PMID:30903511 PMID:31133280 PMID:31194252 PMID:31298590 PMID:32188113 PMID:32432561 PMID:33301762 PMID:33517895 PMID:33686258 More...
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NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522
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G |
Pitx1 |
paired-like homeodomain 1 |
|
ISO |
ClinVar Annotator: match by term: Hurler syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,794,134...8,800,292
Ensembl chr17:8,794,134...8,800,291
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G |
Slc26a1 |
solute carrier family 26 member 1 |
|
ISO |
ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome | ClinVar Annotator: match by term: Hurler syndrome |
ClinVar |
PMID:1301941 PMID:1505961 PMID:6821579 PMID:7550232 PMID:7550242 PMID:7951228 PMID:8019563 PMID:8213840 PMID:8328452 PMID:8401515 PMID:8477267 PMID:8664897 PMID:9427149 PMID:9748610 PMID:9787109 PMID:10215409 PMID:11159948 PMID:11735025 PMID:12189649 PMID:12203999 PMID:12509712 PMID:14559116 PMID:15300847 PMID:15862278 PMID:16438163 PMID:18796143 PMID:19396826 PMID:19839758 PMID:20217237 PMID:21394825 PMID:21480867 PMID:21831683 PMID:22976768 PMID:23430803 PMID:23465405 PMID:23786846 PMID:24033266 PMID:24036510 PMID:24053568 PMID:24314423 PMID:24368159 PMID:24798265 PMID:25009127 PMID:25256405 PMID:25557439 PMID:25741868 PMID:27146977 PMID:27238910 PMID:27511503 PMID:27843123 PMID:27896125 PMID:27939258 PMID:28492532 PMID:28721335 PMID:28725570 PMID:28728811 PMID:28752568 PMID:29393969 PMID:29843745 PMID:31194252 PMID:32432561 More...
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NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849
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G |
Idua |
alpha-L-iduronidase |
|
ISO |
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S |
OMIM ClinVar |
PMID:1301196 PMID:1301941 PMID:1505961 PMID:4221470 PMID:7550232 PMID:7550242 PMID:7951228 PMID:8019563 PMID:8213840 PMID:8328452 PMID:8401515 PMID:8664897 PMID:8680403 PMID:9391892 PMID:9427149 PMID:9748610 PMID:9787109 PMID:10215409 PMID:10466419 PMID:10735634 PMID:10738517 PMID:10911525 PMID:11159948 PMID:11735025 PMID:12189649 PMID:12203999 PMID:12509712 PMID:12559846 PMID:14559116 PMID:15300847 PMID:15521993 PMID:15862278 PMID:16199547 PMID:16435195 PMID:16435211 PMID:16438163 PMID:17570076 PMID:18796143 PMID:19396826 PMID:19748810 PMID:19751987 PMID:19839758 PMID:20301341 PMID:21394825 PMID:21462124 PMID:21480867 PMID:21521498 PMID:21639919 PMID:21734815 PMID:21831683 PMID:22074387 PMID:22976768 PMID:23084433 PMID:23786846 PMID:23837464 PMID:24033266 PMID:24036510 PMID:24053568 PMID:24102521 PMID:24314423 PMID:24368159 PMID:24480078 PMID:24698225 PMID:24798265 PMID:24875751 PMID:25741868 PMID:26260077 PMID:26825088 PMID:27146977 PMID:27196898 PMID:27511503 PMID:27520059 PMID:27896125 PMID:28492532 PMID:28676128 PMID:28752568 PMID:29393969 PMID:29801497 PMID:30093709 PMID:30442156 PMID:30809705 PMID:31194252 PMID:32188113 PMID:32432561 PMID:33098355 PMID:33301762 More...
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NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522
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G |
Slc26a1 |
solute carrier family 26 member 1 |
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ISO |
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S |
ClinVar |
PMID:1301941 PMID:1505961 PMID:7550242 PMID:7951228 PMID:8213840 PMID:8401515 PMID:8664897 PMID:9427149 PMID:9748610 PMID:9787109 PMID:10215409 PMID:11159948 PMID:11735025 PMID:12203999 PMID:12509712 PMID:14559116 PMID:15862278 PMID:18796143 PMID:19396826 PMID:19839758 PMID:21394825 PMID:21480867 PMID:21831683 PMID:22976768 PMID:23786846 PMID:24033266 PMID:24036510 PMID:24053568 PMID:24314423 PMID:24368159 PMID:25741868 PMID:27896125 PMID:28492532 PMID:28752568 PMID:29393969 More...
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NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849
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G |
Ids |
iduronate 2-sulfatase |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, mild form | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, severe form DNA:mutations:exon, intron:multiple |
ClinVar OMIM RGD |
PMID:1284597 PMID:1303211 PMID:1355630 PMID:1550586 PMID:1639384 PMID:1906048 PMID:7581397 PMID:7728156 PMID:8111411 PMID:8318991 PMID:8364592 PMID:8664909 PMID:8829647 PMID:8829661 PMID:8940265 PMID:9222763 PMID:9266380 PMID:9375851 PMID:9501270 PMID:9536098 PMID:9573369 PMID:9660053 PMID:9762601 PMID:9875019 PMID:9921913 PMID:9950361 PMID:10215411 PMID:10671065 PMID:10814710 PMID:10838181 PMID:11452244 PMID:11462244 PMID:11683780 PMID:11731225 PMID:14728992 PMID:15614569 PMID:16133661 PMID:16199547 PMID:16480701 PMID:17063374 PMID:17091340 PMID:17284421 PMID:17343270 PMID:17391447 PMID:17576681 PMID:17655837 PMID:18414213 PMID:18500569 PMID:19573456 PMID:20301451 PMID:21291454 PMID:21639919 PMID:21829674 PMID:22190500 PMID:22492741 PMID:22912587 PMID:22976768 PMID:22990955 PMID:23430829 PMID:24125893 PMID:24268528 PMID:24515576 PMID:24875751 PMID:25640679 PMID:25681085 PMID:25741868 PMID:26407519 PMID:26752647 PMID:26762690 PMID:27146977 PMID:27246110 PMID:27351199 PMID:27848944 PMID:27883178 PMID:27896113 PMID:28077157 PMID:28492532 PMID:28543354 PMID:28593992 PMID:29801497 PMID:30409495 PMID:30639582 PMID:30809705 PMID:31732130 PMID:31877959 PMID:33096603 PMID:33117908 PMID:33124617 PMID:33622387 PMID:33676511 PMID:35144014 PMID:1550586 PMID:27146977 More...
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RGD:1599819, RGD:12910721 |
NCBI chr X:149,025,977...149,046,639
Ensembl chr X:149,025,976...149,046,663
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G |
Card14 |
caspase recruitment domain family, member 14 |
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ISO |
ClinVar Annotator: match by term: Sanfilippo syndrome |
ClinVar |
PMID:9158154 PMID:9285796 PMID:9401012 PMID:9700599 PMID:10601282 PMID:11343308 PMID:12490062 PMID:15146460 PMID:18407553 PMID:21061399 PMID:22976768 PMID:22976788 PMID:24816101 PMID:25741868 PMID:26331342 PMID:26648750 PMID:26787381 PMID:28492532 PMID:30809705 PMID:31536183 More...
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NCBI chr10:104,572,059...104,601,606
Ensembl chr10:104,566,424...104,601,905
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G |
Coasy |
Coenzyme A synthase |
susceptibility |
ISO |
DNA:nonsense mutation, splice-site mutation, missense mutations:multiple |
RGD |
PMID:11153910 |
RGD:1642057 |
NCBI chr10:86,014,566...86,018,849
Ensembl chr10:86,014,597...86,018,841
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G |
Gns |
glucosamine (N-acetyl)-6-sulfatase |
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ISO |
mucopolysaccharidosis type IIID (OMIM:252940) ClinVar Annotator: match by term: Sanfilippo syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:3391615 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20232353 PMID:25741868 PMID:28492532 PMID:12573255 More...
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RGD:1599248 |
NCBI chr 7:56,889,139...56,923,170
Ensembl chr 7:56,889,232...56,923,151
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G |
Hgsnat |
heparan-alpha-glucosaminide N-acetyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Sanfilippo syndrome |
CTD ClinVar |
PMID:16199547 PMID:16960811 PMID:17033958 PMID:17397050 PMID:18024218 PMID:18518886 PMID:19479962 PMID:19823584 PMID:20583299 PMID:20825431 PMID:21384162 PMID:23301227 PMID:24767253 PMID:25491247 PMID:25525159 PMID:25741868 PMID:25859010 PMID:26287674 PMID:26350204 PMID:27243974 PMID:28101780 PMID:28468868 PMID:28492532 PMID:29140481 PMID:31228227 More...
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NCBI chr16:66,105,233...66,137,444
Ensembl chr16:66,105,181...66,136,138
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G |
Ids |
iduronate 2-sulfatase |
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ISO |
ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency |
ClinVar |
PMID:1303211 PMID:1550586 PMID:8318991 PMID:18414213 PMID:25741868 PMID:28492532 More...
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NCBI chr X:149,025,977...149,046,639
Ensembl chr X:149,025,976...149,046,663
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G |
Naglu |
N-acetyl-alpha-glucosaminidase |
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ISO |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: N-acetyl-alpha-d-glucosaminidase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome CTD Direct Evidence: marker/mechanism human protein in mouse model protein:decreased activity:skin fibroblast, liver (human) |
ClinVar CTD RGD |
PMID:8650226 PMID:9443875 PMID:9950362 PMID:10094189 PMID:14984474 PMID:15300983 PMID:15933803 PMID:18218046 PMID:20852935 PMID:21204211 PMID:21937992 PMID:22976768 PMID:23380547 PMID:23430803 PMID:25741868 PMID:28492532 PMID:28751108 PMID:29979746 PMID:33747789 PMID:11668611 PMID:11136549 PMID:10588735 PMID:4261742 More...
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RGD:7241018, RGD:7241016, RGD:7241013, RGD:7241012 |
NCBI chr10:86,001,545...86,009,049
Ensembl chr10:86,001,566...86,008,972
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G |
Sgsh |
N-sulfoglucosamine sulfohydrolase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome |
CTD ClinVar |
PMID:9158154 PMID:9285796 PMID:9401012 PMID:9554748 PMID:9700599 PMID:9744479 PMID:10521831 PMID:10601282 PMID:10727844 PMID:11182930 PMID:11343308 PMID:11668611 PMID:12490062 PMID:15146460 PMID:15542396 PMID:18407553 PMID:21061399 PMID:21204211 PMID:21671382 PMID:22002444 PMID:22976768 PMID:22976788 PMID:24314109 PMID:24816101 PMID:24875751 PMID:25557439 PMID:25741868 PMID:26331342 PMID:26648750 PMID:26787381 PMID:27590925 PMID:28492532 PMID:28844463 PMID:29023963 PMID:30809705 PMID:31536183 PMID:32581362 More...
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NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486
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G |
Aprt |
adenine phosphoribosyl transferase |
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ISO |
ClinVar Annotator: match by term: Galactosamine-6-sulfatase deficiency | ClinVar Annotator: match by term: Morquio syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:50,626,436...50,628,404
Ensembl chr19:50,626,202...50,628,431
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G |
Ccl11 |
C-C motif chemokine ligand 11 |
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ISO |
protein:decreased expression:plasma |
RGD |
PMID:22176730 |
RGD:7247741 |
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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G |
Galns |
galactosamine (N-acetyl)-6-sulfatase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Galactosamine-6-sulfatase deficiency | ClinVar Annotator: match by term: Morquio syndrome |
CTD ClinVar |
PMID:7633425 PMID:7668283 PMID:7795586 PMID:8829629 PMID:9298823 PMID:9375852 PMID:9385378 PMID:9401012 PMID:9521421 PMID:10814710 PMID:11524742 PMID:12442278 PMID:12721840 PMID:15235041 PMID:15241807 PMID:15309681 PMID:16287098 PMID:16837223 PMID:16959974 PMID:17876718 PMID:20574428 PMID:21506915 PMID:22521955 PMID:22940367 PMID:22976768 PMID:23227063 PMID:23401410 PMID:23844448 PMID:23876334 PMID:24033266 PMID:24035930 PMID:24120057 PMID:24389823 PMID:24726177 PMID:24773188 PMID:25137622 PMID:25252036 PMID:25287660 PMID:25433535 PMID:25501214 PMID:25545067 PMID:25741868 PMID:26112015 PMID:26147980 PMID:26502894 PMID:27317439 PMID:28492532 PMID:28844463 PMID:29275451 PMID:29731656 PMID:29779902 PMID:30023300 PMID:30091983 PMID:30094185 PMID:30458289 PMID:30797135 PMID:30809705 PMID:30927141 PMID:30980944 PMID:31200731 PMID:31732130 PMID:32014045 PMID:32905071 PMID:32993725 PMID:33726816 PMID:34387910 PMID:34813777 PMID:34828358 More...
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NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246
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G |
Glb1 |
galactosidase, beta 1 |
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ISO |
Morquio disease type B DNA:mutation:998 A > G (p.Y333C)(human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Morquio syndrome |
CTD ClinVar RGD |
PMID:1928092 PMID:7586649 PMID:11511921 PMID:19091613 |
RGD:1598984, RGD:12910454 |
NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
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G |
Tmppe |
transmembrane protein with metallophosphoesterase domain |
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ISO |
ClinVar Annotator: match by term: Morquio syndrome |
ClinVar |
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NCBI chr 8:114,085,524...114,093,388
Ensembl chr 8:114,084,831...114,094,286
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G |
Acsf3 |
acyl-CoA synthetase family member 3 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:28492532 |
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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 |
Ankrd11 |
ankyrin repeat domain containing 11 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
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G |
Aprt |
adenine phosphoribosyl transferase |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:10479485 PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 |
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NCBI chr19:50,626,436...50,628,404
Ensembl chr19:50,626,202...50,628,431
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G |
Banp |
Btg3 associated nuclear protein |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738
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G |
Car5a |
carbonic anhydrase 5A |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:28492532 |
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NCBI chr19:49,973,092...50,002,948
Ensembl chr19:49,973,107...50,002,906
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G |
Cbfa2t3 |
CBFA2/RUNX1 partner transcriptional co-repressor 3 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,679,897...50,750,028
Ensembl chr19:50,680,729...50,749,610
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G |
Cdh15 |
cadherin 15 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105
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G |
Cdt1 |
chromatin licensing and DNA replication factor 1 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 |
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NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659
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G |
Chmp1a |
charged multivesicular body protein 1A |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:28492532 |
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NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436
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G |
Cpne7 |
copine 7 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:28492532 |
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NCBI chr19:51,164,316...51,182,677
Ensembl chr19:51,166,034...51,182,677
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G |
Ctu2 |
cytosolic thiouridylase subunit 2 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623
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G |
Cyba |
cytochrome b-245 alpha chain |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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G |
Dpep1 |
dipeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:28492532 |
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NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257
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G |
Galns |
galactosamine (N-acetyl)-6-sulfatase |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
OMIM ClinVar |
PMID:1522213 PMID:7581409 PMID:7633425 PMID:7668283 PMID:7795586 PMID:7987329 PMID:8651279 PMID:8826435 PMID:8829629 PMID:8844220 PMID:9290256 PMID:9298823 PMID:9375852 PMID:9385378 PMID:9401012 PMID:9521421 PMID:9536098 PMID:9660054 PMID:10479485 PMID:10699374 PMID:10814710 PMID:11524742 PMID:12442278 PMID:12721840 PMID:15235041 PMID:15241807 PMID:15309681 PMID:15689448 PMID:16199547 PMID:16287098 PMID:16378744 PMID:16837223 PMID:16959974 PMID:17576681 PMID:17876718 PMID:18484607 PMID:18710657 PMID:18792995 PMID:19881469 PMID:20301515 PMID:20574428 PMID:21506915 PMID:21644215 PMID:21896407 PMID:21943391 PMID:22078177 PMID:22178352 PMID:22487817 PMID:22521955 PMID:22940367 PMID:22976768 PMID:23137060 PMID:23227063 PMID:23313879 PMID:23401410 PMID:23844448 PMID:23876334 PMID:24033266 PMID:24035930 PMID:24120057 PMID:24389823 PMID:24411403 PMID:24726177 PMID:24767253 PMID:24773188 PMID:24875751 PMID:25137622 PMID:25252036 PMID:25287660 PMID:25364648 PMID:25433535 PMID:25501214 PMID:25545067 PMID:25741868 PMID:26112015 PMID:26147980 PMID:26276046 PMID:26502894 PMID:27243974 PMID:27317439 PMID:27331011 PMID:27825773 PMID:28397226 PMID:28492532 PMID:28844463 PMID:29275451 PMID:29426755 PMID:29620724 PMID:29731656 PMID:29779902 PMID:30023300 PMID:30091983 PMID:30094185 PMID:30138938 PMID:30305043 PMID:30458289 PMID:30487145 PMID:30797135 PMID:30809705 PMID:30927141 PMID:30980944 PMID:31200731 PMID:31732130 PMID:31991612 PMID:32014045 PMID:32024277 PMID:32102177 PMID:32216080 PMID:32860008 PMID:32905071 PMID:32993725 PMID:33256811 PMID:33726816 PMID:34008892 PMID:34387910 PMID:34573925 PMID:34813777 PMID:34828358 More...
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NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246
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Il17c |
interleukin 17C |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,484,890...50,486,169
Ensembl chr19:50,484,890...50,486,169
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G |
Jph3 |
junctophilin 3 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:28492532 |
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NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338
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Klhdc4 |
kelch domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:28492532 |
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NCBI chr19:49,860,975...49,894,027
Ensembl chr19:49,860,967...49,894,868
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Mvd |
mevalonate diphosphate decarboxylase |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,496,366...50,506,389
Ensembl chr19:50,496,367...50,507,971
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G |
Pabpn1l |
PABPN1 like |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,669,965...50,673,409
Ensembl chr19:50,669,967...50,673,366
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Piezo1 |
piezo-type mechanosensitive ion channel component 1 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 |
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NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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Rnf166 |
ring finger protein 166 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,529,434...50,539,274
Ensembl chr19:50,529,434...50,539,274
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Rpl13 |
ribosomal protein L13 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:28492532 |
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NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014
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Slc7a5 |
solute carrier family 7 member 5 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:28492532 |
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NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Snai3 |
snail family transcriptional repressor 3 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,516,771...50,529,295
Ensembl chr19:50,516,771...50,523,486
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Trappc2l |
trafficking protein particle complex subunit 2L |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:7795586 PMID:8829629 PMID:9298823 PMID:9375852 PMID:9536098 PMID:12442278 PMID:15241807 PMID:15689448 PMID:16287098 PMID:16378744 PMID:17576681 PMID:17876718 PMID:18484607 PMID:18710657 PMID:19881469 PMID:20301515 PMID:21896407 PMID:21943391 PMID:22078177 PMID:23844448 PMID:23876334 PMID:24120057 PMID:24726177 PMID:25252036 PMID:25545067 PMID:25741868 PMID:26147980 PMID:27317439 PMID:27825773 PMID:28492532 PMID:30809705 PMID:30980944 PMID:34387910 More...
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NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192
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Zc3h18 |
zinc finger CCCH-type containing 18 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,434,864...50,479,855
Ensembl chr19:50,434,903...50,479,854
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Zfp26 |
zinc finger protein 26 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:28492532 |
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NCBI chr 8:18,959,656...18,985,647
Ensembl chr 8:18,965,271...18,988,325
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Zfp469 |
zinc finger protein 469 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,282,434...50,324,010
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Zfpm1 |
zinc finger protein, multitype 1 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,334,352...50,391,029
Ensembl chr19:50,334,682...50,390,591
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Hyal1 |
hyaluronidase 1 |
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ISO |
ClinVar Annotator: match by term: Deficiency of hyaluronoglucosaminidase |
OMIM ClinVar |
PMID:8793927 PMID:10339581 PMID:21559944 PMID:25741868 PMID:27424109 PMID:28492532 More...
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NCBI chr 8:108,250,654...108,254,526
Ensembl chr 8:108,250,667...108,260,210
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Card14 |
caspase recruitment domain family, member 14 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A) |
ClinVar |
PMID:9158154 PMID:9285796 PMID:9401012 PMID:9700599 PMID:10601282 PMID:11343308 PMID:12490062 PMID:15146460 PMID:18407553 PMID:21061399 PMID:22976768 PMID:22976788 PMID:24816101 PMID:25741868 PMID:26331342 PMID:26648750 PMID:26787381 PMID:28492532 PMID:30809705 PMID:31536183 More...
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NCBI chr10:104,572,059...104,601,606
Ensembl chr10:104,566,424...104,601,905
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Gnptab |
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A |
ClinVar |
PMID:9536098 PMID:16465621 PMID:17576681 PMID:19617216 PMID:19938078 PMID:20301728 PMID:23192343 PMID:24045841 PMID:24550498 PMID:25505245 PMID:25741868 PMID:28492532 PMID:34008892 More...
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NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933
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Ids |
iduronate 2-sulfatase |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A |
ClinVar |
PMID:1303211 PMID:1550586 PMID:8318991 PMID:18414213 PMID:19573456 PMID:21291454 PMID:22976768 PMID:25741868 PMID:27848944 PMID:28492532 PMID:29801497 More...
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NCBI chr X:149,025,977...149,046,639
Ensembl chr X:149,025,976...149,046,663
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Sgsh |
N-sulfoglucosamine sulfohydrolase |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A |
OMIM ClinVar |
PMID:7493035 PMID:9158154 PMID:9285796 PMID:9401012 PMID:9536098 PMID:9554748 PMID:9700599 PMID:9744479 PMID:10521831 PMID:10601282 PMID:10727844 PMID:11182930 PMID:11343308 PMID:11668611 PMID:11903343 PMID:12000360 PMID:12438493 PMID:12490062 PMID:12702166 PMID:15146460 PMID:15542396 PMID:15637719 PMID:16174644 PMID:16199547 PMID:17128482 PMID:17576681 PMID:18407553 PMID:19099774 PMID:19383612 PMID:21061399 PMID:21204211 PMID:21228398 PMID:21393040 PMID:21455105 PMID:21671382 PMID:21910976 PMID:21963080 PMID:22002444 PMID:22976768 PMID:22976788 PMID:23084433 PMID:24314109 PMID:24347096 PMID:24576347 PMID:24816101 PMID:24875751 PMID:25113300 PMID:25557439 PMID:25741868 PMID:25807448 PMID:26075876 PMID:26331342 PMID:26648750 PMID:26787381 PMID:27590925 PMID:28283807 PMID:28492532 PMID:28844463 PMID:29023963 PMID:30070758 PMID:30809705 PMID:31536183 PMID:31718697 PMID:32036093 PMID:32214227 PMID:32447333 PMID:32581362 PMID:34690354 PMID:34991944 More...
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NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486
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Naglu |
N-acetyl-alpha-glucosaminidase |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIB (Sanfilippo B) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B |
OMIM ClinVar |
PMID:8650226 PMID:9443875 PMID:9443878 PMID:9536098 PMID:9832037 PMID:9950362 PMID:10094189 PMID:11068184 PMID:11153910 PMID:11286389 PMID:11668611 PMID:11836372 PMID:12202988 PMID:14984474 PMID:15300983 PMID:15933803 PMID:16151907 PMID:16199547 PMID:16447797 PMID:17576681 PMID:18218046 PMID:19046346 PMID:20040070 PMID:20138557 PMID:20852935 PMID:21204211 PMID:21712855 PMID:21910976 PMID:21937992 PMID:22002444 PMID:22908982 PMID:22976768 PMID:23084433 PMID:23100014 PMID:23380547 PMID:23430803 PMID:23661660 PMID:23667853 PMID:23840811 PMID:24314109 PMID:25256447 PMID:25466957 PMID:25520920 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25818867 PMID:26075876 PMID:26907177 PMID:27243974 PMID:27590925 PMID:28018442 PMID:28306536 PMID:28492532 PMID:28751108 PMID:28836185 PMID:28844463 PMID:29269699 PMID:29606097 PMID:29661560 PMID:29881562 PMID:29979746 PMID:30070758 PMID:30802506 PMID:30809705 PMID:30903511 PMID:31319225 PMID:31413257 PMID:31536183 PMID:31969655 PMID:32883051 PMID:33747789 PMID:217121855 More...
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NCBI chr10:86,001,545...86,009,049
Ensembl chr10:86,001,566...86,008,972
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Fnta |
farnesyltransferase, CAAX box, alpha |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C |
ClinVar |
PMID:28492532 |
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NCBI chr16:66,065,131...66,083,460
Ensembl chr16:66,065,132...66,083,460
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Hgsnat |
heparan-alpha-glucosaminide N-acetyltransferase |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIC (Sanfilippo C) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16960811 PMID:17033958 PMID:17397050 PMID:17576681 PMID:18024218 PMID:18518886 PMID:19479962 PMID:19763152 PMID:19823584 PMID:20307669 PMID:20583299 PMID:20825431 PMID:21384162 PMID:21910976 PMID:22406018 PMID:23301227 PMID:24767253 PMID:25326635 PMID:25491247 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25859010 PMID:26287674 PMID:26350204 PMID:27243974 PMID:27733599 PMID:27827379 PMID:28041643 PMID:28101780 PMID:28397838 PMID:28468868 PMID:28492532 PMID:28981474 PMID:29140481 PMID:29870682 PMID:30809705 PMID:31228227 PMID:31536183 PMID:32770643 More...
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NCBI chr16:66,105,233...66,137,444
Ensembl chr16:66,105,181...66,136,138
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Pomk |
protein-O-mannose kinase |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C |
ClinVar |
PMID:17033958 PMID:19479962 PMID:28492532 |
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NCBI chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388
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C7h12orf56 |
similar to human chromosome 12 open reading frame 56 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D |
ClinVar |
PMID:20232353 PMID:28492532 |
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NCBI chr 7:57,170,406...57,220,930
Ensembl chr 7:57,170,992...57,220,925
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Gns |
glucosamine (N-acetyl)-6-sulfatase |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D |
OMIM ClinVar |
PMID:3100754 PMID:6450420 PMID:9536098 PMID:12573255 PMID:12624138 PMID:16199547 PMID:16990043 PMID:17576681 PMID:17998446 PMID:19650410 PMID:19763152 PMID:20232353 PMID:20307669 PMID:22406018 PMID:25640679 PMID:25741868 PMID:28492532 PMID:30809705 More...
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NCBI chr 7:56,889,139...56,923,170
Ensembl chr 7:56,889,232...56,923,151
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Kics2 |
KICSTOR subunit 2 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D |
ClinVar |
PMID:20232353 PMID:28492532 |
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NCBI chr 7:57,284,213...57,299,070
Ensembl chr 7:57,284,192...57,297,486
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G |
Lemd3 |
LEM domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D |
ClinVar |
PMID:20232353 PMID:28492532 |
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NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474
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Mok |
MOK protein kinase |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D |
ClinVar |
PMID:25741868 |
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NCBI chr 6:129,823,794...129,854,669
Ensembl chr 6:129,823,795...129,854,700
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Msrb3 |
methionine sulfoxide reductase B3 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D |
ClinVar |
PMID:20232353 PMID:28492532 |
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NCBI chr 7:56,260,985...56,426,004
Ensembl chr 7:56,303,308...56,425,496
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G |
Rassf3 |
Ras association domain family member 3 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D |
ClinVar |
PMID:20232353 PMID:28492532 |
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NCBI chr 7:56,935,894...57,000,591
Ensembl chr 7:56,935,973...57,000,553
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G |
Rxylt1 |
ribitol xylosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D |
ClinVar |
PMID:20232353 PMID:28492532 |
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NCBI chr 7:57,770,841...57,782,695
Ensembl chr 7:57,770,842...57,782,657
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G |
Srgap1 |
SLIT-ROBO Rho GTPase activating protein 1 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D |
ClinVar |
PMID:20232353 PMID:28492532 |
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NCBI chr 7:57,329,532...57,594,681
Ensembl chr 7:57,329,532...57,596,196
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G |
Tbc1d30 |
TBC1 domain family, member 30 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D |
ClinVar |
PMID:20232353 PMID:28492532 |
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NCBI chr 7:56,779,570...56,869,092
Ensembl chr 7:56,782,165...56,870,515
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Tbk1 |
TANK-binding kinase 1 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D |
ClinVar |
PMID:20232353 PMID:28492532 |
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NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892
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Wif1 |
Wnt inhibitory factor 1 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D |
ClinVar |
PMID:20232353 PMID:28492532 |
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NCBI chr 7:56,548,058...56,618,364
Ensembl chr 7:56,548,053...56,618,360
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G |
Xpot |
exportin for tRNA |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D |
ClinVar |
PMID:20232353 PMID:28492532 |
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NCBI chr 7:57,111,536...57,151,847
Ensembl chr 7:57,111,536...57,152,099
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Glb1 |
galactosidase, beta 1 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B |
OMIM ClinVar |
PMID:1353343 PMID:1487238 PMID:1907800 PMID:1909089 PMID:1928092 PMID:2149194 PMID:6791574 PMID:7586649 PMID:8068159 PMID:8112731 PMID:8198123 PMID:8199591 PMID:8213816 PMID:8500799 PMID:8652017 PMID:8922281 PMID:9203065 PMID:9536098 PMID:9781688 PMID:10338095 PMID:10737981 PMID:10744681 PMID:10839995 PMID:10841810 PMID:11504597 PMID:11511921 PMID:12393180 PMID:12644936 PMID:15365997 PMID:15714521 PMID:15906092 PMID:15943552 PMID:15986423 PMID:16199547 PMID:16314480 PMID:16538002 PMID:16617000 PMID:16626397 PMID:16674934 PMID:16941474 PMID:17221873 PMID:17309651 PMID:17576681 PMID:17661814 PMID:17664528 PMID:18353697 PMID:18524657 PMID:18546276 PMID:18571950 PMID:19472408 PMID:19644515 PMID:20175788 PMID:20409738 PMID:20920281 PMID:21214877 PMID:21497194 PMID:21520340 PMID:21637542 PMID:22128166 PMID:22234367 PMID:22371915 PMID:22675082 PMID:23046582 PMID:23151865 PMID:23337983 PMID:23430499 PMID:23430803 PMID:23757202 PMID:23831247 PMID:24033266 PMID:24156116 PMID:24777551 PMID:25326635 PMID:25326637 PMID:25443580 PMID:25557439 PMID:25600812 PMID:25741868 PMID:25936995 PMID:26108645 PMID:26169295 PMID:26646981 PMID:26990548 PMID:27619815 PMID:27679996 PMID:28332257 PMID:28492532 PMID:28554332 PMID:28716012 PMID:28976722 PMID:29160035 PMID:29352662 PMID:29396849 PMID:29439846 PMID:29451896 PMID:30138938 PMID:30267299 PMID:30408610 PMID:30442161 PMID:30548430 PMID:30555092 PMID:30675867 PMID:30703229 PMID:30809705 PMID:31761138 PMID:31776384 PMID:31905715 PMID:33558080 PMID:33737400 PMID:34426522 More...
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NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
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G |
Tmppe |
transmembrane protein with metallophosphoesterase domain |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B |
ClinVar |
PMID:8198123 PMID:8199591 PMID:9536098 PMID:16199547 PMID:16941474 PMID:17576681 PMID:18524657 PMID:21497194 PMID:23757202 PMID:25741868 PMID:26646981 PMID:28492532 PMID:29160035 PMID:33558080 More...
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NCBI chr 8:114,085,524...114,093,388
Ensembl chr 8:114,084,831...114,094,286
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G |
Adamts5 |
ADAM metallopeptidase with thrombospondin type 1 motif, 5 |
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IEP |
protein:increased expression:intervertebral disk |
RGD |
PMID:23192728 |
RGD:10043113 |
NCBI chr11:25,000,627...25,047,205
Ensembl chr11:25,000,637...25,047,205
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G |
Ap3b1 |
adaptor related protein complex 3 subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 |
ClinVar |
PMID:10036316 PMID:17458871 PMID:18486607 PMID:28492532 |
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NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
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G |
Arsb |
arylsulfatase B |
susceptibility treatment |
IAGP ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, intermediate | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, mild | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, severe DNA:mutation:cds:507InsC(rat) CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:1301949 PMID:1550123 PMID:1718978 PMID:4974081 PMID:7733883 PMID:8116615 PMID:8125475 PMID:8144552 PMID:8541342 PMID:8651289 PMID:8723688 PMID:8752530 PMID:9536098 PMID:10036316 PMID:10206678 PMID:10738004 PMID:10923267 PMID:11668612 PMID:11802522 PMID:11939792 PMID:14974081 PMID:15000815 PMID:15603718 PMID:16199547 PMID:16435196 PMID:16949067 PMID:17161971 PMID:17458871 PMID:17576681 PMID:17643332 PMID:17672828 PMID:18406185 PMID:18486607 PMID:19259130 PMID:19763152 PMID:19968667 PMID:20143913 PMID:20307669 PMID:21514195 PMID:21791831 PMID:21791832 PMID:21813902 PMID:21917494 PMID:21930407 PMID:21996138 PMID:22133300 PMID:22406018 PMID:22441840 PMID:22971959 PMID:22976768 PMID:23023219 PMID:23430861 PMID:23458163 PMID:23557332 PMID:23633437 PMID:23657977 PMID:23855929 PMID:23949968 PMID:24033266 PMID:24053568 PMID:24107440 PMID:24221504 PMID:24243352 PMID:24262793 PMID:24373060 PMID:24677745 PMID:24767253 PMID:24798265 PMID:24875751 PMID:25190157 PMID:25640679 PMID:25654180 PMID:25741868 PMID:25797215 PMID:26287674 PMID:26609033 PMID:26909334 PMID:26910003 PMID:26937411 PMID:27797586 PMID:27826022 PMID:28492532 PMID:28552677 PMID:28649537 PMID:28858097 PMID:28884960 PMID:28914427 PMID:30118150 PMID:30982216 PMID:32075597 PMID:32860008 PMID:33163362 PMID:8575749 PMID:21887218 PMID:1550123 PMID:8575749 More...
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RGD:631738, RGD:39131283, RGD:1599228, RGD:631738 |
NCBI chr 2:25,002,210...25,162,675
Ensembl chr 2:25,002,346...25,162,671
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G |
ArsbMPR |
arylsulfatase B; MPR mutant |
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IAGP |
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RGD |
PMID:8575749 |
RGD:631738 |
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G |
Gusb |
glucuronidase, beta |
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ISO |
ClinVar Annotator: match by term: Maroteaux Lamy syndrome |
ClinVar |
PMID:7573038 PMID:8089138 PMID:8644704 PMID:9490302 PMID:9921904 PMID:12403825 PMID:12859417 PMID:19224584 PMID:25741868 PMID:26908836 PMID:28492532 PMID:30413728 More...
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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 |
Lhfpl2 |
LHFPL tetraspan subfamily member 2 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 |
ClinVar |
PMID:10036316 PMID:17458871 PMID:18486607 PMID:28492532 |
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NCBI chr 2:25,281,771...25,428,128
Ensembl chr 2:25,281,901...25,427,950
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G |
Scamp1 |
secretory carrier membrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 |
ClinVar |
PMID:10036316 PMID:17458871 PMID:18486607 PMID:28492532 |
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NCBI chr 2:25,433,958...25,516,734
Ensembl chr 2:25,433,959...25,516,673
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G |
Tnf |
tumor necrosis factor |
treatment |
IEP |
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RGD |
PMID:21887218 |
RGD:39131283 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfsf11 |
TNF superfamily member 11 |
treatment |
IEP |
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RGD |
PMID:21887218 |
RGD:39131283 |
NCBI chr15:53,674,990...53,705,171
Ensembl chr15:53,673,877...53,705,445
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G |
Arsk |
arylsulfatase family, member K |
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ISO |
ClinVar Annotator: match by term: ARSK DEFICIENCY | ClinVar Annotator: match by term: ARYLSULFATASE K DEFICIENCY |
OMIM ClinVar |
PMID:34916232 |
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NCBI chr 2:5,575,727...5,631,370
Ensembl chr 2:5,574,322...5,631,467
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G |
Vps33a |
VPS33A core subunit of CORVET and HOPS complexes |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis-plus syndrome |
OMIM ClinVar |
PMID:25741868 PMID:27547915 PMID:28013294 PMID:28492532 PMID:31070736 |
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NCBI chr12:33,024,596...33,051,399
Ensembl chr12:33,024,650...33,051,393
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G |
Idua |
alpha-L-iduronidase |
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ISO |
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V | ClinVar Annotator: match by term: Scheie Syndrome |
OMIM ClinVar |
PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:2170400 PMID:2522450 PMID:4112371 PMID:4221470 PMID:7550232 PMID:7550242 PMID:7951228 PMID:8019563 PMID:8213840 PMID:8318992 PMID:8401515 PMID:8680403 PMID:9427149 PMID:9748610 PMID:9787109 PMID:10215409 PMID:10607946 PMID:10738517 PMID:10911525 PMID:11159948 PMID:11735025 PMID:11903343 PMID:12203999 PMID:12509712 PMID:12559846 PMID:14559116 PMID:15300847 PMID:15862278 PMID:16435195 PMID:16438163 PMID:18796143 PMID:19396826 PMID:19748810 PMID:19751987 PMID:19839758 PMID:20301341 PMID:21394825 PMID:21462124 PMID:21480867 PMID:21521498 PMID:21639919 PMID:21831683 PMID:22074387 PMID:22976768 PMID:23786846 PMID:23837464 PMID:24033266 PMID:24036510 PMID:24053568 PMID:24102521 PMID:24314423 PMID:24368159 PMID:24480078 PMID:24698225 PMID:24798265 PMID:24875751 PMID:25741868 PMID:26825088 PMID:27146977 PMID:27196898 PMID:27511503 PMID:27896125 PMID:28492532 PMID:28676128 PMID:28752568 PMID:29393969 PMID:30809705 PMID:31194252 PMID:31319225 PMID:32188113 More...
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NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522
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G |
Slc26a1 |
solute carrier family 26 member 1 |
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ISO |
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V | ClinVar Annotator: match by term: Scheie Syndrome |
ClinVar |
PMID:1301941 PMID:1505961 PMID:7550242 PMID:7951228 PMID:8401515 PMID:9427149 PMID:9748610 PMID:9787109 PMID:10215409 PMID:11159948 PMID:11735025 PMID:12203999 PMID:12509712 PMID:14559116 PMID:15862278 PMID:18796143 PMID:19396826 PMID:19839758 PMID:21394825 PMID:21480867 PMID:21831683 PMID:22976768 PMID:23786846 PMID:24033266 PMID:24036510 PMID:24053568 PMID:24314423 PMID:24368159 PMID:25741868 PMID:27896125 PMID:28492532 PMID:28752568 PMID:29393969 More...
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NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849
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G |
Asl |
argininosuccinate lyase |
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ISO |
ClinVar Annotator: match by term: Sly syndrome |
ClinVar |
PMID:19224584 PMID:28492532 |
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NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662
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G |
Gusb |
glucuronidase, beta |
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ISO |
ClinVar Annotator: match by term: MPS VII | ClinVar Annotator: match by term: Sly syndrome |
OMIM ClinVar |
PMID:144057 PMID:1702266 PMID:1833732 PMID:1992472 PMID:6811712 PMID:7573038 PMID:7633414 PMID:7633417 PMID:7680524 PMID:8089138 PMID:8111412 PMID:8111413 PMID:8644704 PMID:8707294 PMID:9099834 PMID:9224584 PMID:9490302 PMID:9536098 PMID:9921904 PMID:11226217 PMID:12403825 PMID:12522561 PMID:12859417 PMID:14711113 PMID:16199547 PMID:17576681 PMID:19224584 PMID:21504867 PMID:23777470 PMID:24033266 PMID:24260279 PMID:25741868 PMID:26036949 PMID:26908836 PMID:28492532 PMID:28595941 PMID:29620724 PMID:30410095 PMID:30413728 PMID:30442200 PMID:31497474 More...
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NCBI chr12:26,701,191...26,714,718
Ensembl chr12:26,697,951...26,726,905
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