Term: | Delayed myelination |
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Accession: | HP:0012448
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browse the term
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Definition: | Delayed myelination. |
Synonyms: | xref: | SNOMEDCT_US:135810007; UMLS:C1277241 |
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ADAMTSL1 |
ADAMTS like 1 |
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IAGP |
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HPO |
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ORPHA:521445 |
NCBI chr 9:17,906,633...18,910,950
Ensembl chr 9:17,906,563...18,910,950
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ADAT3 |
adenosine deaminase tRNA specific 3 |
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IAGP |
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HPO |
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ORPHA:363528 |
NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447
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AHCY |
adenosylhomocysteinase |
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IAGP |
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HPO |
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ORPHA:88618 |
NCBI chr20:34,231,981...34,311,836
Ensembl chr20:34,280,268...34,311,802
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AHDC1 |
AT-hook DNA binding motif containing 1 |
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IAGP |
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HPO |
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ORPHA:412069 |
NCBI chr 1:27,534,245...27,604,227
Ensembl chr 1:27,534,035...27,604,431
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ALG11 |
ALG11 alpha-1,2-mannosyltransferase |
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IAGP |
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HPO |
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ORPHA:280071 |
NCBI chr13:52,012,398...52,033,600
Ensembl chr13:52,012,391...52,079,232
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ALG12 |
ALG12 alpha-1,6-mannosyltransferase |
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IAGP |
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HPO |
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ORPHA:79324 |
NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438
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ALG9 |
ALG9 alpha-1,2-mannosyltransferase |
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IAGP |
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HPO |
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ORPHA:79328 |
NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581
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ARX |
aristaless related homeobox |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr X:25,003,694...25,015,965
Ensembl chr X:25,003,694...25,016,420
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ASNS |
asparagine synthetase (glutamine-hydrolyzing) |
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IAGP |
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HPO |
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MIM:615574 |
NCBI chr 7:97,851,677...97,928,441
Ensembl chr 7:97,851,677...97,872,542
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ASXL1 |
ASXL transcriptional regulator 1 |
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IAGP |
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HPO |
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ORPHA:97297 |
NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
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CASK |
calcium/calmodulin dependent serine protein kinase |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr X:41,514,934...41,923,554
Ensembl chr X:41,514,934...41,923,554
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CDKL5 |
cyclin dependent kinase like 5 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr X:18,425,608...18,653,629
Ensembl chr X:18,425,583...18,653,629
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CLCN4 |
chloride voltage-gated channel 4 |
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IAGP |
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HPO |
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ORPHA:485350 |
NCBI chr X:10,156,975...10,237,660
Ensembl chr X:10,156,975...10,237,660
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CLP1 |
cleavage factor polyribonucleotide kinase subunit 1 |
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IAGP |
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HPO |
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MIM:615803 |
NCBI chr11:57,657,762...57,661,865
Ensembl chr11:57,648,188...57,661,865
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CLTC |
clathrin heavy chain |
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IAGP |
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HPO |
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MIM:617854 |
NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,680...59,696,956
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COG5 |
component of oligomeric golgi complex 5 |
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IAGP |
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HPO |
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ORPHA:263487 |
NCBI chr 7:107,201,372...107,563,920
Ensembl chr 7:107,201,372...107,564,261
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COG7 |
component of oligomeric golgi complex 7 |
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IAGP |
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HPO |
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MIM:608779 |
NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189
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COX7B |
cytochrome c oxidase subunit 7B |
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IAGP |
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HPO |
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MIM:300887 |
NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376
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CREBBP |
CREB binding protein |
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IAGP |
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HPO |
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ORPHA:353277 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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CRELD1 |
cysteine rich with EGF like domains 1 |
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IAGP |
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HPO |
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MIM:620771 |
NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413
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CYB5A |
cytochrome b5 type A |
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IAGP |
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HPO |
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ORPHA:621 |
NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973
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CYB5R3 |
cytochrome b5 reductase 3 |
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IAGP |
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HPO |
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ORPHA:621 |
NCBI chr22:42,617,840...42,649,392
Ensembl chr22:42,615,730...42,720,870
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DCX |
doublecortin |
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IAGP |
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HPO |
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ORPHA:2148 |
NCBI chr X:111,293,779...111,412,192
Ensembl chr X:111,293,779...111,412,429
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DHFR |
dihydrofolate reductase |
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IAGP |
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HPO |
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MIM:613839 |
NCBI chr 5:80,626,226...80,654,983
Ensembl chr 5:80,626,226...80,654,983
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DMXL2 |
Dmx like 2 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833
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DPM1 |
dolichyl-phosphate mannosyltransferase subunit 1, catalytic |
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IAGP |
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HPO |
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ORPHA:79322 |
NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140
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EP300 |
E1A binding protein p300 |
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IAGP |
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HPO |
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ORPHA:353284 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
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IAGP |
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HPO |
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MIM:214150 |
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
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FDXR |
ferredoxin reductase |
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IAGP |
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HPO |
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ORPHA:543470 |
NCBI chr17:74,862,497...74,872,994
Ensembl chr17:74,862,497...74,873,031
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FLCN |
folliculin |
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IAGP |
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HPO |
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MIM:610883 |
NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188
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FOXRED1 |
FAD dependent oxidoreductase domain containing 1 |
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IAGP |
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HPO |
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MIM:618241 |
NCBI chr11:126,269,154...126,278,126
Ensembl chr11:126,269,024...126,278,131
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GATAD2B |
GATA zinc finger domain containing 2B |
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IAGP |
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HPO |
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ORPHA:363686 |
NCBI chr 1:153,804,725...153,922,972
Ensembl chr 1:153,789,030...153,923,360
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GFM1 |
G elongation factor mitochondrial 1 |
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IAGP |
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HPO |
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MIM:609060 |
NCBI chr 3:158,644,527...158,695,581
Ensembl chr 3:158,644,527...158,695,581
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GMNN |
geminin DNA replication inhibitor |
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IAGP |
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HPO |
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MIM:616835 |
NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099
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GNAO1 |
G protein subunit alpha o1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,189,660...56,357,444
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GNB1 |
G protein subunit beta 1 |
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IAGP |
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HPO |
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MIM:616973 ORPHA:488613 |
NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292
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GRIN1 |
glutamate ionotropic receptor NMDA type subunit 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756
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GRM7 |
glutamate metabotropic receptor 7 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533
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HACE1 |
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 |
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IAGP |
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HPO |
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MIM:616756 |
NCBI chr 6:104,728,094...104,859,919
Ensembl chr 6:104,728,094...104,859,919
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HNRNPU |
heterogeneous nuclear ribonucleoprotein U |
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IAGP |
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HPO |
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MIM:617391 |
NCBI chr 1:244,850,297...244,864,543
Ensembl chr 1:244,840,638...244,864,560
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IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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IAGP |
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HPO |
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ORPHA:99646 |
NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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IFIH1 |
interferon induced with helicase C domain 1 |
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IAGP |
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HPO |
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MIM:615846 |
NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
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IREB2 |
iron responsive element binding protein 2 |
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IAGP |
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HPO |
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MIM:618451 |
NCBI chr15:78,437,431...78,501,453
Ensembl chr15:78,437,431...78,501,453
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ISCA1 |
iron-sulfur cluster assembly 1 |
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IAGP |
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HPO |
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MIM:617613 |
NCBI chr 9:86,264,546...86,282,538
Ensembl chr 9:86,264,546...86,283,102
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KCNA1 |
potassium voltage-gated channel subfamily A member 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256
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KCNQ2 |
potassium voltage-gated channel subfamily Q member 2 |
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IAGP |
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HPO |
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ORPHA:293181 |
NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677
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KCNT1 |
potassium sodium-activated channel subfamily T member 1 |
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IAGP |
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HPO |
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ORPHA:293181 |
NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508
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KDM1A |
lysine demethylase 1A |
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IAGP |
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HPO |
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ORPHA:477993 |
NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689
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KMT2E |
lysine methyltransferase 2E (inactive) |
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IAGP |
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HPO |
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MIM:618512 |
NCBI chr 7:105,014,205...105,115,019
Ensembl chr 7:104,940,943...105,115,019
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MAN2B1 |
mannosidase alpha class 2B member 1 |
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IAGP |
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HPO |
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MIM:248500 |
NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,646,511...12,666,742
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MAPK8IP3 |
mitogen-activated protein kinase 8 interacting protein 3 |
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IAGP |
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HPO |
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MIM:618443 |
NCBI chr16:1,706,195...1,770,351
Ensembl chr16:1,706,166...1,770,351
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MCOLN1 |
mucolipin TRP cation channel 1 |
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IAGP |
ClinVar Annotator: match by term: Delayed myelination |
ClinVar |
PMID:11030752 PMID:11317355 PMID:16199547 PMID:28492532 PMID:31623504 |
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NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009
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MRPS22 |
mitochondrial ribosomal protein S22 |
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IAGP |
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HPO |
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MIM:611719 |
NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497
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MTRR |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
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IAGP |
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HPO |
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ORPHA:2169 |
NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025
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NACC1 |
nucleus accumbens associated 1 |
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IAGP |
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HPO |
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ORPHA:500545 |
NCBI chr19:13,116,852...13,141,147
Ensembl chr19:13,116,862...13,141,147
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NEUROD2 |
neuronal differentiation 2 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr17:39,603,768...39,607,920
Ensembl chr17:39,603,536...39,609,777
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NGLY1 |
N-glycanase 1 |
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IAGP |
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HPO |
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MIM:615273 ORPHA:404454 |
NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039
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NR2F1 |
nuclear receptor subfamily 2 group F member 1 |
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IAGP |
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HPO |
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ORPHA:401777 |
NCBI chr 5:93,583,222...93,594,611
Ensembl chr 5:93,583,222...93,594,611
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NTRK2 |
neurotrophic receptor tyrosine kinase 2 |
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IAGP |
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HPO |
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MIM:613886 MIM:617830 |
NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
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OCA2 |
OCA2 melanosomal transmembrane protein |
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IAGP |
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HPO |
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ORPHA:98794 |
NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
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PAK1 |
p21 (RAC1) activated kinase 1 |
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IAGP |
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HPO |
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MIM:618158 |
NCBI chr11:77,322,017...77,530,009
Ensembl chr11:77,322,017...77,474,635
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PHGDH |
phosphoglycerate dehydrogenase |
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IAGP |
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HPO |
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ORPHA:79351 |
NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218
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PIGA |
phosphatidylinositol glycan anchor biosynthesis class A |
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IAGP |
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HPO |
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MIM:300868 ORPHA:293181 |
NCBI chr X:15,319,451...15,335,554
Ensembl chr X:15,319,452...15,335,554
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PIGN |
phosphatidylinositol glycan anchor biosynthesis class N |
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IAGP |
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HPO |
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ORPHA:280633 |
NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118
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PIGP |
phosphatidylinositol glycan anchor biosynthesis class P |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170
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PIGQ |
phosphatidylinositol glycan anchor biosynthesis class Q |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109
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PIGV |
phosphatidylinositol glycan anchor biosynthesis class V |
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IAGP |
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HPO |
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MIM:239300 |
NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659
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PLAA |
phospholipase A2 activating protein |
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IAGP |
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HPO |
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ORPHA:521426 |
NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242
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PLCB1 |
phospholipase C beta 1 |
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IAGP |
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HPO |
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ORPHA:293181 |
NCBI chr20:8,132,266...8,884,900
Ensembl chr20:8,077,251...8,968,360
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PMM2 |
phosphomannomutase 2 |
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IAGP |
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HPO |
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ORPHA:79318 |
NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534
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PNKP |
polynucleotide kinase 3'-phosphatase |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351
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PNPT1 |
polyribonucleotide nucleotidyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:319514 |
NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863
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POGZ |
pogo transposable element derived with ZNF domain |
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IAGP |
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HPO |
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ORPHA:468678 |
NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494
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PPP1R15B |
protein phosphatase 1 regulatory subunit 15B |
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IAGP |
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HPO |
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MIM:616817 ORPHA:391408 |
NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887
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PPP2R1A |
protein phosphatase 2 scaffold subunit Aalpha |
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IAGP |
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HPO |
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ORPHA:457284 |
NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518
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PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
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IAGP |
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HPO |
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ORPHA:423479 |
NCBI chr X:107,628,510...107,651,026
Ensembl chr X:107,628,428...107,651,993
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PRUNE1 |
prune exopolyphosphatase 1 |
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IAGP |
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HPO |
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ORPHA:544469 |
NCBI chr 1:151,008,449...151,035,713
Ensembl chr 1:151,008,420...151,035,713
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PSAT1 |
phosphoserine aminotransferase 1 |
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IAGP |
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HPO |
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ORPHA:284417 |
NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,125...78,330,093
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PURA |
purine rich element binding protein A |
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IAGP |
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HPO |
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ORPHA:314655 |
NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619
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RMND1 |
required for meiotic nuclear division 1 homolog |
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IAGP |
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HPO |
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MIM:614922 |
NCBI chr 6:151,404,762...151,452,126
Ensembl chr 6:151,398,898...151,452,158
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RNASEH2C |
ribonuclease H2 subunit C |
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IAGP |
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HPO |
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MIM:610329 |
NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818
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RNF13 |
ring finger protein 13 |
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IAGP |
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HPO |
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ORPHA:544503 |
NCBI chr 3:149,812,688...149,962,139
Ensembl chr 3:149,812,770...149,962,139
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SATB2 |
SATB homeobox 2 |
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IAGP |
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HPO |
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ORPHA:576283 |
NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266
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SCN1A |
sodium voltage-gated channel alpha subunit 1 |
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IAGP |
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HPO |
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ORPHA:293181 |
NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806
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SCN1B |
sodium voltage-gated channel beta subunit 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
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SCN2A |
sodium voltage-gated channel alpha subunit 2 |
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IAGP |
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HPO |
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ORPHA:1934 ORPHA:293181 |
NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
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SEPSECS |
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase |
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IAGP |
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HPO |
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MIM:613811 |
NCBI chr 4:25,120,014...25,160,582
Ensembl chr 4:25,120,014...25,160,550
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SIK1 |
salt inducible kinase 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131
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SLC12A5 |
solute carrier family 12 member 5 |
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IAGP |
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HPO |
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ORPHA:293181 |
NCBI chr20:46,021,686...46,060,150
Ensembl chr20:46,021,690...46,060,150
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SLC13A5 |
solute carrier family 13 member 5 |
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IAGP |
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HPO |
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MIM:615905 |
NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377
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SLC16A2 |
solute carrier family 16 member 2 |
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IAGP |
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HPO |
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ORPHA:59 |
NCBI chr X:74,421,493...74,533,916
Ensembl chr X:74,421,493...74,533,917
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SLC25A1 |
solute carrier family 25 member 1 |
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IAGP |
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HPO |
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MIM:615182 |
NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739
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SLC25A22 |
solute carrier family 25 member 22 |
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IAGP |
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HPO |
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MIM:609304 ORPHA:1934 ORPHA:293181 |
NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281
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SLC2A1 |
solute carrier family 2 member 1 |
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IAGP |
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HPO |
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ORPHA:168577 |
NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
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SLC32A1 |
solute carrier family 32 member 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr20:38,724,486...38,729,372
Ensembl chr20:38,724,486...38,729,372
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SLC35A2 |
solute carrier family 35 member A2 |
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IAGP |
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HPO |
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ORPHA:356961 |
NCBI chr X:48,903,183...48,911,958
Ensembl chr X:48,903,180...48,911,958
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SLC6A8 |
solute carrier family 6 member 8 |
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IAGP |
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HPO |
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MIM:300352 |
NCBI chr X:153,687,926...153,696,593
Ensembl chr X:153,687,926...153,696,588
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SPTBN1 |
spectrin beta, non-erythrocytic 1 |
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IAGP |
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HPO |
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MIM:619475 |
NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446
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STAMBP |
STAM binding protein |
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IAGP |
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HPO |
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MIM:614261 |
NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659
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STXBP1 |
syntaxin binding protein 1 |
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IAGP |
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HPO |
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ORPHA:599373 |
NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027
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SYT1 |
synaptotagmin 1 |
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IAGP |
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HPO |
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ORPHA:522077 |
NCBI chr12:78,863,982...79,452,008
Ensembl chr12:78,863,993...79,452,008
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TAF2 |
TATA-box binding protein associated factor 2 |
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IAGP |
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HPO |
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ORPHA:397951 |
NCBI chr 8:119,730,774...119,832,841
Ensembl chr 8:119,730,774...119,832,863
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TBC1D24 |
TBC1 domain family member 24 |
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IAGP |
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HPO |
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MIM:615338 ORPHA:293181 |
NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560
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TBCE |
tubulin folding cofactor E |
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IAGP |
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HPO |
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MIM:241410 |
NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
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TRIM8 |
tripartite motif containing 8 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,658,318
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TRMT10A |
tRNA methyltransferase 10A |
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IAGP |
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HPO |
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ORPHA:391408 |
NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039
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TXN2 |
thioredoxin 2 |
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IAGP |
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HPO |
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ORPHA:478029 |
NCBI chr22:36,467,046...36,481,640
Ensembl chr22:36,467,046...36,481,640
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UBE3A |
ubiquitin protein ligase E3A |
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IAGP |
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HPO |
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ORPHA:98794 |
NCBI chr15:25,333,728...25,439,056
Ensembl chr15:25,333,728...25,439,051
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VPS11 |
VPS11 core subunit of CORVET and HOPS complexes |
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IAGP |
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HPO |
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MIM:616683 |
NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972
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VPS33A |
VPS33A core subunit of CORVET and HOPS complexes |
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IAGP |
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HPO |
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ORPHA:505248 |
NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502
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WARS2 |
tryptophanyl tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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ORPHA:572798 |
NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,031,216...119,140,654
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YY1 |
YY1 transcription factor |
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IAGP |
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HPO |
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ORPHA:506358 |
NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788
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ZC4H2 |
zinc finger C4H2-type containing |
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IAGP |
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HPO |
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MIM:314580 |
NCBI chr X:64,915,807...65,034,741
Ensembl chr X:64,915,802...65,034,713
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AARS1 |
alanyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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MIM:619691 |
NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707
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ACTL6B |
actin like 6B |
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IAGP |
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HPO |
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MIM:618468 |
NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448
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ACY1 |
aminoacylase 1 |
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IAGP |
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HPO |
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MIM:609924 |
NCBI chr 3:51,983,535...51,989,197
Ensembl chr 3:51,983,340...51,989,197
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ADARB1 |
adenosine deaminase RNA specific B1 |
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IAGP |
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HPO |
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MIM:618862 |
NCBI chr21:45,074,578...45,226,563
Ensembl chr21:45,073,853...45,226,560
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ADAT3 |
adenosine deaminase tRNA specific 3 |
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IAGP |
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HPO |
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MIM:615286 |
NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447
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AFG2A |
AFG2 AAA ATPase homolog A |
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IAGP |
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HPO |
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MIM:616577 |
NCBI chr 4:122,923,078...123,319,433
Ensembl chr 4:122,923,070...123,319,433
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AHDC1 |
AT-hook DNA binding motif containing 1 |
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IAGP |
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HPO |
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MIM:615829 |
NCBI chr 1:27,534,245...27,604,227
Ensembl chr 1:27,534,035...27,604,431
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AIFM1 |
apoptosis inducing factor mitochondria associated 1 |
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IAGP |
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HPO |
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MIM:300232 |
NCBI chr X:130,129,362...130,165,841
Ensembl chr X:130,124,666...130,165,879
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ALDH5A1 |
aldehyde dehydrogenase 5 family member A1 |
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IAGP |
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HPO |
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MIM:271980 |
NCBI chr 6:24,494,969...24,537,207
Ensembl chr 6:24,494,867...24,537,207
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ALDH6A1 |
aldehyde dehydrogenase 6 family member A1 |
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IAGP |
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HPO |
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MIM:614105 |
NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492
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ALDH7A1 |
aldehyde dehydrogenase 7 family member A1 |
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IAGP |
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HPO |
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ORPHA:3006 |
NCBI chr 5:126,541,841...126,595,219
Ensembl chr 5:126,531,200...126,595,362
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ALG13 |
ALG13 UDP-N-acetylglucosaminyltransferase subunit |
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IAGP |
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HPO |
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MIM:300884 |
NCBI chr X:111,681,170...111,760,649
Ensembl chr X:111,665,811...111,760,649
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ALG14 |
ALG14 UDP-N-acetylglucosaminyltransferase subunit |
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IAGP |
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HPO |
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MIM:619031 MIM:619036 |
NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951
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ALG2 |
ALG2 alpha-1,3/1,6-mannosyltransferase |
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IAGP |
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HPO |
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MIM:607906 |
NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942
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ALG9 |
ALG9 alpha-1,2-mannosyltransferase |
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IAGP |
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HPO |
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MIM:608776 |
NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581
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AP3D1 |
adaptor related protein complex 3 subunit delta 1 |
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IAGP |
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HPO |
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MIM:617050 |
NCBI chr19:2,100,988...2,164,616
Ensembl chr19:2,100,988...2,164,468
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ARF1 |
ADP ribosylation factor 1 |
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IAGP |
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HPO |
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MIM:618185 |
NCBI chr 1:228,082,708...228,099,212
Ensembl chr 1:228,082,708...228,099,212
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ARID1B |
AT-rich interaction domain 1B |
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IAGP |
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HPO |
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MIM:135900 |
NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
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ARNT2 |
aryl hydrocarbon receptor nuclear translocator 2 |
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IAGP |
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HPO |
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MIM:615926 |
NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933
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ARX |
aristaless related homeobox |
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IAGP |
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HPO |
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MIM:308350 |
NCBI chr X:25,003,694...25,015,965
Ensembl chr X:25,003,694...25,016,420
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ASH1L |
ASH1 like histone lysine methyltransferase |
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IAGP |
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HPO |
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MIM:617796 |
NCBI chr 1:155,335,268...155,563,202
Ensembl chr 1:155,335,268...155,563,162
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ATP1A3 |
ATPase Na+/K+ transporting subunit alpha 3 |
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IAGP |
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HPO |
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MIM:619606 |
NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
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ATP6AP2 |
ATPase H+ transporting accessory protein 2 |
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IAGP |
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HPO |
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MIM:300423 |
NCBI chr X:40,580,970...40,606,848
Ensembl chr X:40,579,372...40,606,848
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ATP9A |
ATPase phospholipid transporting 9A (putative) |
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IAGP |
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HPO |
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MIM:620242 |
NCBI chr20:51,596,514...51,768,390
Ensembl chr20:51,596,514...51,768,390
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BCS1L |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
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IAGP |
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HPO |
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MIM:124000 |
NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443
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BMP4 |
bone morphogenetic protein 4 |
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IAGP |
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HPO |
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MIM:607932 |
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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BRAT1 |
BRCA1 associated ATM activator 1 |
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IAGP |
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HPO |
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MIM:614498 |
NCBI chr 7:2,537,810...2,555,524
Ensembl chr 7:2,537,810...2,555,694
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C18orf32 |
chromosome 18 open reading frame 32 |
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IAGP |
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HPO |
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MIM:619985 |
NCBI chr18:49,477,243...49,487,234
Ensembl chr18:49,477,243...49,487,252
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CACNA1I |
calcium voltage-gated channel subunit alpha1 I |
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IAGP |
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HPO |
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MIM:620114 |
NCBI chr22:39,570,753...39,689,735
Ensembl chr22:39,570,753...39,689,735
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CARS1 |
cysteinyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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MIM:618891 |
NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613
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CDC40 |
cell division cycle 40 |
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IAGP |
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HPO |
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MIM:619302 |
NCBI chr 6:110,180,427...110,232,232
Ensembl chr 6:110,180,141...110,254,275
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CDK19 |
cyclin dependent kinase 19 |
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IAGP |
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HPO |
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MIM:618916 |
NCBI chr 6:110,609,978...110,815,855
Ensembl chr 6:110,609,978...110,815,958
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CHAMP1 |
chromosome alignment maintaining phosphoprotein 1 |
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IAGP |
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HPO |
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MIM:616579 |
NCBI chr13:114,314,503...114,327,322
Ensembl chr13:114,314,482...114,337,626
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CLCN3 |
chloride voltage-gated channel 3 |
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IAGP |
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HPO |
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MIM:619512 MIM:619517 |
NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673
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CLCN7 |
chloride voltage-gated channel 7 |
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IAGP |
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HPO |
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MIM:618541 |
NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077
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CLPB |
ClpB family mitochondrial disaggregase |
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IAGP |
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HPO |
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MIM:619835 |
NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680
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CLTC |
clathrin heavy chain |
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IAGP |
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HPO |
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MIM:617854 |
NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,680...59,696,956
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CLTCL1 |
clathrin heavy chain like 1 |
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IAGP |
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HPO |
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ORPHA:453510 |
NCBI chr22:19,179,473...19,291,719
Ensembl chr22:19,179,473...19,291,719
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CNOT3 |
CCR4-NOT transcription complex subunit 3 |
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IAGP |
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HPO |
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MIM:618672 |
NCBI chr19:54,137,762...54,155,681
Ensembl chr19:54,137,749...54,155,681
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COG3 |
component of oligomeric golgi complex 3 |
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IAGP |
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HPO |
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MIM:620546 |
NCBI chr13:45,464,939...45,536,701
Ensembl chr13:45,464,898...45,536,701
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COPB2 |
COPI coat complex subunit beta 2 |
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IAGP |
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HPO |
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MIM:617800 MIM:619884 |
NCBI chr 3:139,357,406...139,389,680
Ensembl chr 3:139,353,946...139,389,736
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CTNNB1 |
catenin beta 1 |
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IAGP |
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HPO |
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ORPHA:404473 |
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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CUL3 |
cullin 3 |
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IAGP |
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HPO |
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MIM:619239 |
NCBI chr 2:224,470,150...224,585,363
Ensembl chr 2:224,470,150...224,585,397
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D2HGDH |
D-2-hydroxyglutarate dehydrogenase |
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IAGP |
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HPO |
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MIM:600721 |
NCBI chr 2:241,734,630...241,768,811
Ensembl chr 2:241,734,602...241,768,816
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DDX6 |
DEAD-box helicase 6 |
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IAGP |
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HPO |
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MIM:618653 |
NCBI chr11:118,747,763...118,791,744
Ensembl chr11:118,747,763...118,791,164
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DHX30 |
DExH-box helicase 30 |
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IAGP |
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HPO |
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MIM:617804 |
NCBI chr 3:47,803,138...47,850,193
Ensembl chr 3:47,802,909...47,850,195
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DHX37 |
DEAH-box helicase 37 |
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IAGP |
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HPO |
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MIM:618731 |
NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131
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DNM1L |
dynamin 1 like |
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IAGP |
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HPO |
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MIM:614388 |
NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650
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DOHH |
deoxyhypusine hydroxylase |
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IAGP |
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HPO |
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MIM:620066 |
NCBI chr19:3,490,824...3,500,674
Ensembl chr19:3,490,821...3,500,674
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EARS2 |
glutamyl-tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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MIM:614924 |
NCBI chr16:23,520,754...23,557,375
Ensembl chr16:23,520,754...23,557,731
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EIF2AK2 |
eukaryotic translation initiation factor 2 alpha kinase 2 |
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IAGP |
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HPO |
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MIM:618877 |
NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522
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ELOVL4 |
ELOVL fatty acid elongase 4 |
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IAGP |
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HPO |
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MIM:614457 |
NCBI chr 6:79,914,814...79,947,553
Ensembl chr 6:79,914,814...79,947,553
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EXOC8 |
exocyst complex component 8 |
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IAGP |
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HPO |
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MIM:619076 |
NCBI chr 1:231,332,753...231,337,852
Ensembl chr 1:231,332,753...231,337,852
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EXOSC1 |
exosome component 1 |
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IAGP |
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HPO |
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MIM:619304 |
NCBI chr10:97,435,909...97,446,006
Ensembl chr10:97,435,909...97,446,017
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EXOSC2 |
exosome component 2 |
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IAGP |
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HPO |
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MIM:617763 |
NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,707,288
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EZH2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
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IAGP |
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HPO |
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MIM:277590 |
NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
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FANCB |
FA complementation group B |
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IAGP |
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HPO |
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MIM:300514 |
NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255
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FANCL |
FA complementation group L |
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IAGP |
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HPO |
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MIM:614083 |
NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
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FAR1 |
fatty acyl-CoA reductase 1 |
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IAGP |
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HPO |
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MIM:616154 |
NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,668,659...13,732,346
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FBXL4 |
F-box and leucine rich repeat protein 4 |
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IAGP |
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HPO |
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MIM:615471 |
NCBI chr 6:98,868,535...98,947,946
Ensembl chr 6:98,868,535...98,948,006
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FBXO28 |
F-box protein 28 |
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IAGP |
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HPO |
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MIM:619777 |
NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047
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G |
FCSK |
fucose kinase |
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IAGP |
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HPO |
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MIM:618324 |
NCBI chr16:70,454,595...70,480,274
Ensembl chr16:70,454,595...70,480,274
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G |
FOCAD |
focadhesin |
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IAGP |
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HPO |
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MIM:619991 |
NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955
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FOXG1 |
forkhead box G1 |
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IAGP |
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HPO |
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MIM:613454 |
NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277
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G |
FOXP1 |
forkhead box P1 |
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IAGP |
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HPO |
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MIM:613670 |
NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978
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G |
FRMD5 |
FERM domain containing 5 |
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IAGP |
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HPO |
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MIM:620094 |
NCBI chr15:43,870,764...44,199,473
Ensembl chr15:43,870,761...44,195,271
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G |
FRMPD4 |
FERM and PDZ domain containing 4 |
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IAGP |
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HPO |
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MIM:300983 |
NCBI chr X:11,822,439...12,724,523
Ensembl chr X:11,822,423...12,724,523
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G |
FZR1 |
fizzy and cell division cycle 20 related 1 |
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IAGP |
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HPO |
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MIM:620145 |
NCBI chr19:3,506,311...3,538,334
Ensembl chr19:3,506,311...3,538,334
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G |
GABRG2 |
gamma-aminobutyric acid type A receptor subunit gamma2 |
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IAGP |
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HPO |
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MIM:618396 |
NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
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GEMIN4 |
gem nuclear organelle associated protein 4 |
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IAGP |
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HPO |
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MIM:617913 |
NCBI chr17:744,421...754,410
Ensembl chr17:744,421...753,999
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G |
GET4 |
guided entry of tail-anchored proteins factor 4 |
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IAGP |
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HPO |
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MIM:620200 |
NCBI chr 7:876,554...896,436
Ensembl chr 7:876,554...896,436
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G |
GLS |
glutaminase |
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IAGP |
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HPO |
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MIM:618339 |
NCBI chr 2:190,880,821...190,965,552
Ensembl chr 2:190,880,821...190,965,552
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G |
GLYCTK |
glycerate kinase |
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IAGP |
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HPO |
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MIM:220120 |
NCBI chr 3:52,287,828...52,295,257
Ensembl chr 3:52,287,089...52,295,257
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G |
GNAO1 |
G protein subunit alpha o1 |
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IAGP |
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HPO |
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MIM:615473 MIM:617493 |
NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,189,660...56,357,444
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G |
GNB2 |
G protein subunit beta 2 |
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IAGP |
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HPO |
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MIM:619503 |
NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
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G |
GOLGA2 |
golgin A2 |
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IAGP |
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HPO |
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MIM:620240 |
NCBI chr 9:128,255,829...128,276,007
Ensembl chr 9:128,255,829...128,276,026
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G |
GRIK2 |
glutamate ionotropic receptor kainate type subunit 2 |
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IAGP |
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HPO |
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MIM:619580 |
NCBI chr 6:101,393,708...102,070,083
Ensembl chr 6:100,962,701...102,081,622
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G |
GTF2H5 |
general transcription factor IIH subunit 5 |
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IAGP |
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HPO |
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MIM:616395 |
NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344
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G |
H4C5 |
H4 clustered histone 5 |
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IAGP |
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HPO |
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MIM:619950 |
NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021
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G |
HCFC1 |
host cell factor C1 |
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IAGP |
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HPO |
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MIM:309541 |
NCBI chr X:153,947,557...153,971,818
Ensembl chr X:153,947,557...153,971,818
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G |
HIKESHI |
heat shock protein nuclear import factor hikeshi |
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IAGP |
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HPO |
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MIM:616881 |
NCBI chr11:86,302,240...86,345,943
Ensembl chr11:86,302,211...86,345,943
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G |
HMBS |
hydroxymethylbilane synthase |
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IAGP |
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HPO |
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MIM:620704 |
NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834
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G |
HNRNPC |
heterogeneous nuclear ribonucleoprotein C |
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IAGP |
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HPO |
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MIM:620688 |
NCBI chr14:21,209,147...21,269,442
Ensembl chr14:21,209,136...21,269,494
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G |
HS2ST1 |
heparan sulfate 2-O-sulfotransferase 1 |
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IAGP |
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HPO |
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MIM:619194 |
NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982
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G |
IER3IP1 |
immediate early response 3 interacting protein 1 |
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IAGP |
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HPO |
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MIM:614231 |
NCBI chr18:47,152,834...47,176,364
Ensembl chr18:47,152,834...47,176,364
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G |
INTS11 |
integrator complex subunit 11 |
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IAGP |
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HPO |
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MIM:620428 |
NCBI chr 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687
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G |
ITPA |
inosine triphosphatase |
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IAGP |
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HPO |
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MIM:616647 |
NCBI chr20:3,204,065...3,227,449
Ensembl chr20:3,208,868...3,223,870
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G |
KCNC2 |
potassium voltage-gated channel subfamily C member 2 |
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IAGP |
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HPO |
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MIM:619913 |
NCBI chr12:75,040,078...75,209,839
Ensembl chr12:75,040,077...75,209,839
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G |
KCNH5 |
potassium voltage-gated channel subfamily H member 5 |
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IAGP |
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HPO |
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MIM:620537 |
NCBI chr14:62,699,464...63,045,458
Ensembl chr14:62,699,464...63,102,037
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G |
KCNN2 |
potassium calcium-activated channel subfamily N member 2 |
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IAGP |
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HPO |
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MIM:619725 |
NCBI chr 5:114,055,978...114,496,496
Ensembl chr 5:114,055,926...114,496,500
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G |
KCNT1 |
potassium sodium-activated channel subfamily T member 1 |
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IAGP |
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HPO |
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MIM:614959 |
NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508
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G |
KDM1A |
lysine demethylase 1A |
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IAGP |
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HPO |
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MIM:616728 |
NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689
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G |
KIDINS220 |
kinase D interacting substrate 220 |
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IAGP |
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HPO |
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MIM:617296 |
NCBI chr 2:8,721,081...8,837,613
Ensembl chr 2:8,721,081...8,837,630
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G |
KIF5A |
kinesin family member 5A |
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IAGP |
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HPO |
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MIM:617235 |
NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633
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G |
LIPT1 |
lipoyltransferase 1 |
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IAGP |
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HPO |
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MIM:616299 |
NCBI chr 2:99,154,967...99,163,137
Ensembl chr 2:99,154,955...99,163,157
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G |
LIPT2 |
lipoyl(octanoyl) transferase 2 |
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IAGP |
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HPO |
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MIM:617668 |
NCBI chr11:74,490,519...74,493,724
Ensembl chr11:74,490,519...74,493,724
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G |
LMX1B |
LIM homeobox transcription factor 1 beta |
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IAGP |
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HPO |
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ORPHA:495818 |
NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032
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G |
MADD |
MAP kinase activating death domain |
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IAGP |
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HPO |
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MIM:619004 MIM:619005 |
NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031
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G |
MDH2 |
malate dehydrogenase 2 |
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IAGP |
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HPO |
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MIM:617339 |
NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508
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G |
MED17 |
mediator complex subunit 17 |
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IAGP |
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HPO |
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MIM:613668 |
NCBI chr11:93,784,282...93,814,963
Ensembl chr11:93,784,227...93,814,963
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G |
MLYCD |
malonyl-CoA decarboxylase |
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IAGP |
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HPO |
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MIM:248360 |
NCBI chr16:83,899,115...83,927,031
Ensembl chr16:83,899,115...83,951,445
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G |
MMUT |
methylmalonyl-CoA mutase |
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IAGP |
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HPO |
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MIM:251000 |
NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253
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G |
MORC2 |
MORC family CW-type zinc finger 2 |
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IAGP |
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HPO |
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MIM:619090 |
NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774
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G |
MTHFS |
methenyltetrahydrofolate synthetase |
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IAGP |
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HPO |
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MIM:618367 |
NCBI chr15:79,843,547...79,897,285
Ensembl chr15:79,833,585...79,897,379
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G |
NACC1 |
nucleus accumbens associated 1 |
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IAGP |
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HPO |
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MIM:617393 |
NCBI chr19:13,116,852...13,141,147
Ensembl chr19:13,116,862...13,141,147
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G |
NADK2 |
NAD kinase 2, mitochondrial |
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IAGP |
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HPO |
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MIM:616034 |
NCBI chr 5:36,192,589...36,242,279
Ensembl chr 5:36,192,589...36,242,279
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G |
NAE1 |
NEDD8 activating enzyme E1 subunit 1 |
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IAGP |
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HPO |
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MIM:620210 |
NCBI chr16:66,802,878...66,830,976
Ensembl chr16:66,802,875...66,873,256
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G |
NARS1 |
asparaginyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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MIM:619091 |
NCBI chr18:57,600,656...57,621,836
Ensembl chr18:57,600,656...57,622,213
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G |
NCDN |
neurochondrin |
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IAGP |
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HPO |
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MIM:619373 |
NCBI chr 1:35,557,799...35,566,779
Ensembl chr 1:35,557,473...35,567,274
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G |
NEDD4L |
NEDD4 like E3 ubiquitin protein ligase |
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IAGP |
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HPO |
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MIM:617201 |
NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540
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G |
NEUROD2 |
neuronal differentiation 2 |
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IAGP |
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HPO |
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MIM:618374 |
NCBI chr17:39,603,768...39,607,920
Ensembl chr17:39,603,536...39,609,777
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G |
NGLY1 |
N-glycanase 1 |
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IAGP |
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HPO |
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MIM:615273 |
NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039
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G |
NMNAT1 |
nicotinamide nucleotide adenylyltransferase 1 |
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IAGP |
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HPO |
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MIM:619260 |
NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501
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G |
NRCAM |
neuronal cell adhesion molecule |
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IAGP |
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HPO |
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MIM:619833 |
NCBI chr 7:108,147,649...108,456,720
Ensembl chr 7:108,147,623...108,456,717
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G |
NRROS |
negative regulator of reactive oxygen species |
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IAGP |
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HPO |
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MIM:618875 |
NCBI chr 3:196,639,694...196,662,004
Ensembl chr 3:196,639,694...196,662,004
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G |
NUP133 |
nucleoporin 133 |
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IAGP |
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HPO |
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MIM:618349 |
NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,341
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G |
NUP188 |
nucleoporin 188 |
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IAGP |
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HPO |
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MIM:618804 |
NCBI chr 9:128,947,699...129,007,096
Ensembl chr 9:128,947,699...129,007,096
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G |
PEX7 |
peroxisomal biogenesis factor 7 |
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IAGP |
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HPO |
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MIM:215100 |
NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934
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G |
PGAP1 |
post-GPI attachment to proteins inositol deacylase 1 |
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IAGP |
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HPO |
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MIM:615802 |
NCBI chr 2:196,833,004...196,926,707
Ensembl chr 2:196,833,004...196,927,796
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G |
PHACTR1 |
phosphatase and actin regulator 1 |
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IAGP |
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HPO |
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MIM:618298 |
NCBI chr 6:12,716,767...13,287,837
Ensembl chr 6:12,716,312...13,290,446
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G |
PIBF1 |
progesterone immunomodulatory binding factor 1 |
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IAGP |
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HPO |
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MIM:617767 |
NCBI chr13:72,782,133...73,016,461
Ensembl chr13:72,782,133...73,016,461
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G |
PIGS |
phosphatidylinositol glycan anchor biosynthesis class S |
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IAGP |
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HPO |
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MIM:618143 |
NCBI chr17:28,553,387...28,571,524
Ensembl chr17:28,553,383...28,571,794
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G |
PIGU |
phosphatidylinositol glycan anchor biosynthesis class U |
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IAGP |
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HPO |
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MIM:618590 |
NCBI chr20:34,560,542...34,677,092
Ensembl chr20:34,560,542...34,698,790
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G |
PKDCC |
protein kinase domain containing, cytoplasmic |
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IAGP |
|
HPO |
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MIM:618821 |
NCBI chr 2:42,048,021...42,058,517
Ensembl chr 2:42,048,021...42,058,517
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G |
PLAA |
phospholipase A2 activating protein |
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IAGP |
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HPO |
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MIM:617527 |
NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242
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G |
PLPBP |
pyridoxal phosphate binding protein |
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IAGP |
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HPO |
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ORPHA:3006 |
NCBI chr 8:37,762,546...37,779,768
Ensembl chr 8:37,762,595...37,779,768
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G |
POGZ |
pogo transposable element derived with ZNF domain |
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IAGP |
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HPO |
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MIM:616364 ORPHA:468678 |
NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494
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G |
POLR2A |
RNA polymerase II subunit A |
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IAGP |
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HPO |
|
MIM:618603 |
NCBI chr17:7,484,366...7,514,616
Ensembl chr17:7,484,366...7,514,616
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G |
POLR3B |
RNA polymerase III subunit B |
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IAGP |
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HPO |
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MIM:619742 |
NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198
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G |
POU3F3 |
POU class 3 homeobox 3 |
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IAGP |
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HPO |
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MIM:618604 |
NCBI chr 2:104,854,115...104,858,574
Ensembl chr 2:104,853,287...104,858,574
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G |
PPIL1 |
peptidylprolyl isomerase like 1 |
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IAGP |
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HPO |
|
MIM:619301 |
NCBI chr 6:36,854,829...36,874,803
Ensembl chr 6:36,854,827...36,874,803
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G |
PPP2CA |
protein phosphatase 2 catalytic subunit alpha |
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IAGP |
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HPO |
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MIM:618354 |
NCBI chr 5:134,194,332...134,226,073
Ensembl chr 5:134,194,035...134,226,073
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G |
PPP2R1A |
protein phosphatase 2 scaffold subunit Aalpha |
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IAGP |
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HPO |
|
MIM:616362 |
NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518
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G |
PPP3CA |
protein phosphatase 3 catalytic subunit alpha |
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IAGP |
|
HPO |
|
MIM:617711 |
NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278
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G |
PRMT7 |
protein arginine methyltransferase 7 |
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IAGP |
|
HPO |
|
MIM:617157 |
NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852
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G |
PRUNE1 |
prune exopolyphosphatase 1 |
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IAGP |
|
HPO |
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MIM:617481 |
NCBI chr 1:151,008,449...151,035,713
Ensembl chr 1:151,008,420...151,035,713
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G |
PURA |
purine rich element binding protein A |
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IAGP |
|
HPO |
|
MIM:616158 |
NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619
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G |
RAB11B |
RAB11B, member RAS oncogene family |
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IAGP |
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HPO |
|
MIM:617807 |
NCBI chr19:8,390,360...8,404,434
Ensembl chr19:8,389,981...8,404,434
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G |
RAB3GAP1 |
RAB3 GTPase activating protein catalytic subunit 1 |
|
IAGP |
|
HPO |
|
MIM:600118 |
NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667
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G |
RAP1GDS1 |
Rap1 GTPase-GDP dissociation stimulator 1 |
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IAGP |
|
HPO |
|
MIM:620655 |
NCBI chr 4:98,261,384...98,443,858
Ensembl chr 4:98,261,384...98,443,858
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G |
RBM8A |
RNA binding motif protein 8A |
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IAGP |
|
HPO |
|
MIM:274000 |
NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678
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G |
RERE |
arginine-glutamic acid dipeptide repeats |
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IAGP |
|
HPO |
|
MIM:616975 |
NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
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G |
RFX7 |
regulatory factor X7 |
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IAGP |
|
HPO |
|
MIM:620330 |
NCBI chr15:56,087,280...56,245,082
Ensembl chr15:56,087,280...56,245,082
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G |
RHOBTB2 |
Rho related BTB domain containing 2 |
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IAGP |
|
HPO |
|
MIM:618004 |
NCBI chr 8:22,950,813...23,020,199
Ensembl chr 8:22,987,417...23,020,509
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G |
RNF13 |
ring finger protein 13 |
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IAGP |
|
HPO |
|
MIM:618379 |
NCBI chr 3:149,812,688...149,962,139
Ensembl chr 3:149,812,770...149,962,139
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G |
RNU7-1 |
RNA, U7 small nuclear 1 |
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IAGP |
|
HPO |
|
MIM:619487 |
NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878
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G |
SETD1A |
SET domain containing 1A, histone lysine methyltransferase |
|
IAGP |
|
HPO |
|
MIM:618832 |
NCBI chr16:30,957,754...30,984,664
Ensembl chr16:30,957,294...30,984,664
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G |
SHANK3 |
SH3 and multiple ankyrin repeat domains 3 |
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IAGP |
|
HPO |
|
MIM:606232 |
NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,408...50,733,212
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G |
SIN3A |
SIN3 transcription regulator family member A |
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IAGP |
|
HPO |
|
MIM:613406 |
NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842
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G |
SLC12A5 |
solute carrier family 12 member 5 |
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IAGP |
|
HPO |
|
MIM:616645 |
NCBI chr20:46,021,686...46,060,150
Ensembl chr20:46,021,690...46,060,150
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SLC16A2 |
solute carrier family 16 member 2 |
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IAGP |
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HPO |
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MIM:300523 |
NCBI chr X:74,421,493...74,533,916
Ensembl chr X:74,421,493...74,533,917
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SLC19A1 |
solute carrier family 19 member 1 |
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IAGP |
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HPO |
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MIM:620603 |
NCBI chr21:45,502,517...45,563,025
Ensembl chr21:45,493,572...45,573,365
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SLC1A2 |
solute carrier family 1 member 2 |
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IAGP |
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HPO |
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MIM:617105 |
NCBI chr11:35,251,205...35,420,507
Ensembl chr11:35,251,205...35,420,063
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SLC1A4 |
solute carrier family 1 member 4 |
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IAGP |
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HPO |
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MIM:616657 |
NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865
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SLC2A1 |
solute carrier family 2 member 1 |
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IAGP |
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HPO |
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MIM:608885 |
NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
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SLC35A2 |
solute carrier family 35 member A2 |
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IAGP |
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HPO |
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MIM:300896 |
NCBI chr X:48,903,183...48,911,958
Ensembl chr X:48,903,180...48,911,958
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SLC35B2 |
solute carrier family 35 member B2 |
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IAGP |
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HPO |
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MIM:620269 |
NCBI chr 6:44,254,101...44,257,890
Ensembl chr 6:44,254,096...44,257,890
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SLC6A1 |
solute carrier family 6 member 1 |
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IAGP |
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HPO |
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MIM:616421 |
NCBI chr 3:10,992,748...11,039,247
Ensembl chr 3:10,992,186...11,039,247
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SMG9 |
SMG9 nonsense mediated mRNA decay factor |
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IAGP |
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HPO |
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MIM:616920 |
NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962
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SMPD1 |
sphingomyelin phosphodiesterase 1 |
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IAGP |
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HPO |
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MIM:257200 |
NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998
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STXBP1 |
syntaxin binding protein 1 |
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IAGP |
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HPO |
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MIM:612164 ORPHA:495818 |
NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027
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TAF13 |
TATA-box binding protein associated factor 13 |
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IAGP |
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HPO |
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MIM:617432 |
NCBI chr 1:109,064,140...109,076,003
Ensembl chr 1:109,062,496...109,076,012
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TAF2 |
TATA-box binding protein associated factor 2 |
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IAGP |
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HPO |
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MIM:615599 |
NCBI chr 8:119,730,774...119,832,841
Ensembl chr 8:119,730,774...119,832,863
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TBC1D24 |
TBC1 domain family member 24 |
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IAGP |
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HPO |
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ORPHA:352596 |
NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560
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TGFB1 |
transforming growth factor beta 1 |
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IAGP |
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HPO |
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MIM:618213 |
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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TIMM22 |
translocase of inner mitochondrial membrane 22 |
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IAGP |
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HPO |
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MIM:618851 |
NCBI chr17:997,129...1,003,671
Ensembl chr17:997,129...1,003,671
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TKFC |
triokinase and FMN cyclase |
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IAGP |
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HPO |
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MIM:618805 |
NCBI chr11:61,333,228...61,353,426
Ensembl chr11:61,333,220...61,353,295
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TMEM106B |
transmembrane protein 106B |
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IAGP |
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HPO |
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MIM:617964 |
NCBI chr 7:12,211,294...12,243,367
Ensembl chr 7:12,211,270...12,243,367
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TMEM147 |
transmembrane protein 147 |
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IAGP |
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HPO |
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MIM:620075 |
NCBI chr19:35,545,626...35,547,526
Ensembl chr19:35,545,600...35,547,526
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TMEM163 |
transmembrane protein 163 |
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IAGP |
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HPO |
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MIM:620243 |
NCBI chr 2:134,455,759...134,719,000
Ensembl chr 2:134,455,759...134,719,000
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TMEM240 |
transmembrane protein 240 |
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IAGP |
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HPO |
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MIM:607454 |
NCBI chr 1:1,534,778...1,540,624
Ensembl chr 1:1,534,778...1,540,624
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TMEM63A |
transmembrane protein 63A |
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IAGP |
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HPO |
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MIM:618688 |
NCBI chr 1:225,840,556...225,882,380
Ensembl chr 1:225,845,536...225,882,380
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TNPO2 |
transportin 2 |
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IAGP |
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HPO |
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MIM:619556 |
NCBI chr19:12,699,201...12,723,932
Ensembl chr19:12,699,201...12,724,011
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TNR |
tenascin R |
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IAGP |
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HPO |
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MIM:619653 |
NCBI chr 1:175,315,194...175,743,595
Ensembl chr 1:175,315,194...175,743,595
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TPR |
translocated promoter region, nuclear basket protein |
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IAGP |
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HPO |
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MIM:620393 |
NCBI chr 1:186,311,652...186,375,253
Ensembl chr 1:186,311,652...186,375,693
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TRAPPC2L |
trafficking protein particle complex subunit 2L |
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IAGP |
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HPO |
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MIM:618331 |
NCBI chr16:88,856,220...88,862,678
Ensembl chr16:88,856,220...88,862,686
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TRIM8 |
tripartite motif containing 8 |
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IAGP |
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HPO |
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MIM:619428 |
NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,658,318
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TRMT5 |
tRNA methyltransferase 5 |
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IAGP |
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HPO |
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MIM:616539 |
NCBI chr14:60,971,441...60,981,690
Ensembl chr14:60,971,441...60,981,170
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TRNT1 |
tRNA nucleotidyl transferase 1 |
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IAGP |
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HPO |
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MIM:616084 |
NCBI chr 3:3,126,940...3,153,435
Ensembl chr 3:3,126,933...3,153,435
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TRRAP |
transformation/transcription domain associated protein |
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IAGP |
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HPO |
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MIM:618454 |
NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831
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TXN2 |
thioredoxin 2 |
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IAGP |
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HPO |
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MIM:616811 |
NCBI chr22:36,467,046...36,481,640
Ensembl chr22:36,467,046...36,481,640
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U2AF2 |
U2 small nuclear RNA auxiliary factor 2 |
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IAGP |
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HPO |
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MIM:620535 |
NCBI chr19:55,655,035...55,674,716
Ensembl chr19:55,654,146...55,674,716
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UBA5 |
ubiquitin like modifier activating enzyme 5 |
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IAGP |
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HPO |
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MIM:617132 |
NCBI chr 3:132,654,430...132,679,794
Ensembl chr 3:132,654,446...132,679,794
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UFC1 |
ubiquitin-fold modifier conjugating enzyme 1 |
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IAGP |
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HPO |
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MIM:618076 |
NCBI chr 1:161,153,978...161,158,856
Ensembl chr 1:161,152,776...161,158,856
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UGDH |
UDP-glucose 6-dehydrogenase |
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IAGP |
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HPO |
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MIM:618792 |
NCBI chr 4:39,498,755...39,527,439
Ensembl chr 4:39,498,755...39,528,311
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UPB1 |
beta-ureidopropionase 1 |
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IAGP |
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HPO |
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MIM:613161 |
NCBI chr22:24,495,332...24,528,390
Ensembl chr22:24,494,107...24,528,390
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VPS11 |
VPS11 core subunit of CORVET and HOPS complexes |
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IAGP |
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HPO |
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ORPHA:466934 |
NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972
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VPS33A |
VPS33A core subunit of CORVET and HOPS complexes |
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IAGP |
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HPO |
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MIM:617303 |
NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502
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WARS1 |
tryptophanyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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MIM:620317 |
NCBI chr14:100,333,790...100,376,327
Ensembl chr14:100,333,790...100,376,805
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WARS2 |
tryptophanyl tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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MIM:617710 |
NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,031,216...119,140,654
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WWOX |
WW domain containing oxidoreductase |
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IAGP |
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HPO |
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MIM:616211 |
NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
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YME1L1 |
YME1 like 1 ATPase |
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IAGP |
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HPO |
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MIM:617302 |
NCBI chr10:27,110,111...27,154,384
Ensembl chr10:27,110,111...27,155,266
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YRDC |
yrdC N6-threonylcarbamoyltransferase domain containing |
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IAGP |
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HPO |
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MIM:619609 |
NCBI chr 1:37,802,945...37,808,208
Ensembl chr 1:37,802,945...37,808,208
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YY1 |
YY1 transcription factor |
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IAGP |
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HPO |
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MIM:617557 |
NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788
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ZC4H2 |
zinc finger C4H2-type containing |
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IAGP |
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HPO |
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MIM:301041 |
NCBI chr X:64,915,807...65,034,741
Ensembl chr X:64,915,802...65,034,713
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ZMIZ1 |
zinc finger MIZ-type containing 1 |
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IAGP |
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HPO |
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MIM:618659 |
NCBI chr10:79,068,966...79,316,519
Ensembl chr10:79,068,966...79,316,519
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ZNF148 |
zinc finger protein 148 |
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IAGP |
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HPO |
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MIM:617260 |
NCBI chr 3:125,225,669...125,375,354
Ensembl chr 3:125,225,669...125,375,325
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ZNF335 |
zinc finger protein 335 |
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IAGP |
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HPO |
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MIM:615095 |
NCBI chr20:45,948,660...45,972,203
Ensembl chr20:45,948,660...45,972,203
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ZNF526 |
zinc finger protein 526 |
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IAGP |
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HPO |
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MIM:619877 |
NCBI chr19:42,220,312...42,228,201
Ensembl chr19:42,220,292...42,228,201
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ASXL1 |
ASXL transcriptional regulator 1 |
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IAGP |
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HPO |
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MIM:605039 |
NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
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HACE1 |
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 |
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IAGP |
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HPO |
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ORPHA:464282 |
NCBI chr 6:104,728,094...104,859,919
Ensembl chr 6:104,728,094...104,859,919
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Term paths to the root
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