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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | holoprosencephaly 5 | | IAGP | RGD:127233747 | 8554872 | ClinVar Annotator: match by term: Holoprosencephaly 5 | ClinVar | PMID:17274816 more ... | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | holoprosencephaly 5 | | IAGP | RGD:127233747 | 8554872 | ClinVar Annotator: match by term: Holoprosencephaly 5 | ClinVar | PMID:17274816 more ... | |
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# | Reference Title | Reference Citation |
1. | HIF1A and VEGF regulate each other by competing endogenous RNA mechanism and involve in the pathogenesis of peritoneal fibrosis. | Li J, etal., Pathol Res Pract. 2019 Apr;215(4):644-652. doi: 10.1016/j.prp.2018.12.022. Epub 2018 Dec 26. |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:11679670 | PMID:11914277 | PMID:12554860 | PMID:15183728 | PMID:15325244 | PMID:15944707 | PMID:15944709 | PMID:15978578 | PMID:16381832 | PMID:16940181 | PMID:17284533 | PMID:17604727 |
PMID:17616659 | PMID:18320040 | PMID:18327259 | PMID:18632605 | PMID:18644370 | PMID:18688024 | PMID:18695042 | PMID:18700987 | PMID:18773208 | PMID:18836483 | PMID:18941111 | PMID:19048628 |
PMID:19066217 | PMID:19158830 | PMID:19287466 | PMID:19347736 | PMID:19390056 | PMID:19633662 | PMID:19672269 | PMID:19821056 | PMID:19949084 | PMID:20022054 | PMID:20089119 | PMID:20148420 |
PMID:20190813 | PMID:20209605 | PMID:20299512 | PMID:20349219 | PMID:20406904 | PMID:20505989 | PMID:20656682 | PMID:20703102 | PMID:20711463 | PMID:20810544 | PMID:20878079 | PMID:20940405 |
PMID:21037258 | PMID:21040528 | PMID:21067317 | PMID:21145484 | PMID:21176349 | PMID:21203553 | PMID:21283765 | PMID:21338882 | PMID:21370248 | PMID:21444672 | PMID:21508257 | PMID:21816922 |
PMID:21898695 | PMID:21953646 | PMID:21955497 | PMID:21982160 | PMID:22072491 | PMID:22132820 | PMID:22161164 | PMID:22228753 | PMID:22438230 | PMID:22473208 | PMID:22583011 | PMID:22730212 |
PMID:22828869 | PMID:22959509 | PMID:23001407 | PMID:23029228 | PMID:23056289 | PMID:23059786 | PMID:23095762 | PMID:23108086 | PMID:23129428 | PMID:23203215 | PMID:23226946 | PMID:23246221 |
PMID:23258273 | PMID:23263848 | PMID:23285084 | PMID:23306545 | PMID:23333058 | PMID:23391506 | PMID:23399447 | PMID:23418359 | PMID:23433743 | PMID:23436804 | PMID:23492770 | PMID:23497354 |
PMID:23562609 | PMID:23568010 | PMID:23583198 | PMID:23602254 | PMID:23661605 | PMID:23728176 | PMID:23768492 | PMID:23770094 | PMID:23780339 | PMID:23818358 | PMID:23911400 | PMID:23936170 |
PMID:23969726 | PMID:24194900 | PMID:24252850 | PMID:24360091 | PMID:24386440 | PMID:24412053 | PMID:24462867 | PMID:24556691 | PMID:24722426 | PMID:24755562 | PMID:24801601 | PMID:24801835 |
PMID:24819603 | PMID:24876719 | PMID:24879052 | PMID:24901013 | PMID:24912422 | PMID:24920276 | PMID:24989082 | PMID:25001613 | PMID:25011053 | PMID:25047501 | PMID:25060766 | PMID:25064468 |
PMID:25115392 | PMID:25125661 | PMID:25146671 | PMID:25146963 | PMID:25200830 | PMID:25435430 | PMID:25612891 | PMID:25680407 | PMID:25686840 | PMID:25748447 | PMID:25753880 | PMID:25785043 |
PMID:25912229 | PMID:25915722 | PMID:26041742 | PMID:26117336 | PMID:26160865 | PMID:26175399 | PMID:26231295 | PMID:26318586 | PMID:26431674 | PMID:26465597 | PMID:26482648 | PMID:26513648 |
PMID:26546431 | PMID:26600038 | PMID:26637460 | PMID:26646931 | PMID:26750490 | PMID:26997445 | PMID:26998831 | PMID:27093644 | PMID:27120811 | PMID:27245839 | PMID:27278684 | PMID:27285985 |
PMID:27339495 | PMID:27400681 | PMID:27409728 | PMID:27473081 | PMID:27491928 | PMID:27499367 | PMID:27505139 | PMID:27534557 | PMID:27630293 | PMID:27640178 | PMID:27765929 | PMID:27774777 |
PMID:27831559 | PMID:28002789 | PMID:28081732 | PMID:28167506 | PMID:28178652 | PMID:28205547 | PMID:28207735 | PMID:28264488 | PMID:28398248 | PMID:28431233 | PMID:28534369 | PMID:28560387 |
PMID:28621051 | PMID:28745272 | PMID:28771472 | PMID:28798470 | PMID:28875846 | PMID:28971974 | PMID:29115381 | PMID:29115593 | PMID:29289833 | PMID:29367757 | PMID:29433423 | PMID:29441982 |
PMID:29459716 | PMID:29471417 | PMID:29518394 | PMID:29536180 | PMID:29644896 | PMID:29687841 | PMID:29691366 | PMID:29693721 | PMID:29721023 | PMID:29763590 | PMID:29786752 | PMID:29856480 |
PMID:29858404 | PMID:29889802 | PMID:29902577 | PMID:29914008 | PMID:29953965 | PMID:30017188 | PMID:30030064 | PMID:30055570 | PMID:30302796 | PMID:30302813 | PMID:30305109 | PMID:30305135 |
PMID:30338914 | PMID:30338929 | PMID:30348222 | PMID:30353329 | PMID:30384383 | PMID:30387831 | PMID:30396754 | PMID:30452398 | PMID:30468285 | PMID:30535441 | PMID:30808771 | PMID:30816540 |
PMID:30861177 | PMID:30905898 | PMID:30989460 | PMID:31026378 | PMID:31075259 | PMID:31146974 | PMID:31148365 | PMID:31198013 | PMID:31233201 | PMID:31244320 | PMID:31257497 | PMID:31261026 |
PMID:31296440 | PMID:31364131 | PMID:31409641 | PMID:31435783 | PMID:31473252 | PMID:31558704 | PMID:31622249 | PMID:31646601 | PMID:31713278 | PMID:31730378 | PMID:31747809 | PMID:31909455 |
PMID:31926946 | PMID:31997281 | PMID:32085745 | PMID:32093888 | PMID:32159700 | PMID:32188489 | PMID:32206115 | PMID:32210705 | PMID:32228546 | PMID:32246873 | PMID:32282501 | PMID:32296039 |
PMID:32319624 | PMID:32442343 | PMID:32447210 | PMID:32521902 | PMID:32546833 | PMID:32590607 | PMID:32599355 | PMID:32600075 | PMID:32619376 | PMID:32730779 | PMID:32762281 | PMID:32852903 |
PMID:32859639 | PMID:32902214 | PMID:32924373 | PMID:32933626 | PMID:33030674 | PMID:33123591 | PMID:33146328 | PMID:33241756 | PMID:33296098 | PMID:33483902 | PMID:33519139 | PMID:33537818 |
PMID:33609405 | PMID:33745222 | PMID:33797702 | PMID:33887260 | PMID:33887464 | PMID:33942217 | PMID:34013455 | PMID:34014023 | PMID:34089461 | PMID:34102990 | PMID:34130587 | PMID:34153234 |
PMID:34180119 | PMID:34181173 | PMID:34185245 | PMID:34198485 | PMID:34226620 | PMID:34239355 | PMID:34288812 | PMID:34370073 | PMID:34390329 | PMID:34396444 | PMID:34426734 | PMID:34529319 |
PMID:34647142 | PMID:34664684 | PMID:34921177 | PMID:34927777 | PMID:35016493 | PMID:35041140 | PMID:35075166 | PMID:35085690 | PMID:35229202 | PMID:35340210 | PMID:35490164 | PMID:35524830 |
PMID:35536524 | PMID:35799645 |
MIR17 (Homo sapiens - human) |
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Mir17 (Mus musculus - house mouse) |
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Mir17 (Rattus norvegicus - Norway rat) |
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MIR17 (Canis lupus familiaris - dog) |
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MIR17 (Sus scrofa - pig) |
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The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
RefSeq Transcripts | NG_032702 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NR_029487 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AF480529 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF480562 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ421735 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL162375 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068265 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LM608160 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000385012 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NR_029487 | ||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1 | copy number loss | See cases [RCV000050891] | Chr13:44967523..92738168 [GRCh38] Chr13:45541658..93390421 [GRCh37] Chr13:44439658..92188422 [NCBI36] Chr13:13q14.12-31.3 |
pathogenic |
GRCh38/hg38 13q22.3-32.1(chr13:78349126-94701844)x1 | copy number loss | See cases [RCV000051379] | Chr13:78349126..94701844 [GRCh38] Chr13:78923261..95354098 [GRCh37] Chr13:77821262..94152099 [NCBI36] Chr13:13q22.3-32.1 |
pathogenic |
GRCh38/hg38 13q31.1-34(chr13:82581008-114327173)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|See cases [RCV000051380] | Chr13:82581008..114327173 [GRCh38] Chr13:83155143..115085141 [GRCh37] Chr13:82053144..114110750 [NCBI36] Chr13:13q31.1-34 |
pathogenic |
GRCh38/hg38 13q31.1-32.1(chr13:83947821-95128969)x1 | copy number loss | See cases [RCV000051414] | Chr13:83947821..95128969 [GRCh38] Chr13:84521956..95781223 [GRCh37] Chr13:83419957..94579224 [NCBI36] Chr13:13q31.1-32.1 |
pathogenic |
GRCh38/hg38 13q31.2-32.1(chr13:88260962-97285754)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051415]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051415]|See cases [RCV000051415] | Chr13:88260962..97285754 [GRCh38] Chr13:88913217..97938008 [GRCh37] Chr13:87711218..96736009 [NCBI36] Chr13:13q31.2-32.1 |
pathogenic |
GRCh38/hg38 13q31.2-32.3(chr13:88323009-98888644)x1 | copy number loss | See cases [RCV000051416] | Chr13:88323009..98888644 [GRCh38] Chr13:88975264..99540898 [GRCh37] Chr13:87773265..98338899 [NCBI36] Chr13:13q31.2-32.3 |
pathogenic |
GRCh38/hg38 13q31.3-32.1(chr13:89549510-96657834)x1 | copy number loss | See cases [RCV000051417] | Chr13:89549510..96657834 [GRCh38] Chr13:90201764..97310088 [GRCh37] Chr13:88999765..96108089 [NCBI36] Chr13:13q31.3-32.1 |
pathogenic |
GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3 | copy number gain | See cases [RCV000051179] | Chr13:82032938..106082542 [GRCh38] Chr13:82607073..106734891 [GRCh37] Chr13:81505074..105532892 [NCBI36] Chr13:13q31.1-33.2 |
pathogenic |
GRCh38/hg38 13q31.3(chr13:90215412-91366486)x1 | copy number loss | See cases [RCV000051921] | Chr13:90215412..91366486 [GRCh38] Chr13:90867666..92018740 [GRCh37] Chr13:89665667..90816741 [NCBI36] Chr13:13q31.3 |
uncertain significance |
GRCh38/hg38 13q31.3(chr13:90973752-93097331)x1 | copy number loss | See cases [RCV000051922] | Chr13:90973752..93097331 [GRCh38] Chr13:91626006..93749584 [GRCh37] Chr13:90424007..92547585 [NCBI36] Chr13:13q31.3 |
uncertain significance |
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 | copy number gain | See cases [RCV000053726] | Chr13:18946182..114304628 [GRCh38] Chr13:19520322..115070103 [GRCh37] Chr13:18418322..114088205 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 | copy number gain | See cases [RCV000053731] | Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 | copy number gain | See cases [RCV000053719] | Chr13:18565048..114327173 [GRCh38] Chr13:19139188..115085141 [GRCh37] Chr13:18037188..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 | copy number gain | See cases [RCV000053723] | Chr13:18850545..114327173 [GRCh38] Chr13:19296527..115085141 [GRCh37] Chr13:18194527..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 | copy number gain | See cases [RCV000053759] | Chr13:33528097..114327173 [GRCh38] Chr13:34102234..115085141 [GRCh37] Chr13:33000234..114110750 [NCBI36] Chr13:13q13.2-34 |
pathogenic |
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 | copy number gain | See cases [RCV000053762] | Chr13:43219125..114327314 [GRCh38] Chr13:43793261..115085141 [GRCh37] Chr13:42691261..114110891 [NCBI36] Chr13:13q14.11-34 |
pathogenic |
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 | copy number gain | See cases [RCV000053764] | Chr13:44164751..114327173 [GRCh38] Chr13:44738887..115085141 [GRCh37] Chr13:43636887..114110750 [NCBI36] Chr13:13q14.11-34 |
pathogenic |
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 | copy number gain | See cases [RCV000053767] | Chr13:44733046..114327173 [GRCh38] Chr13:45307182..115085141 [GRCh37] Chr13:44205182..114110750 [NCBI36] Chr13:13q14.12-34 |
pathogenic |
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 | copy number gain | See cases [RCV000053770] | Chr13:74345951..114327314 [GRCh38] Chr13:74920088..115085141 [GRCh37] Chr13:73818089..114110891 [NCBI36] Chr13:13q22.1-34 |
pathogenic |
GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|See cases [RCV000053772] | Chr13:80628584..114327173 [GRCh38] Chr13:81202719..115085141 [GRCh37] Chr13:80100720..114110750 [NCBI36] Chr13:13q31.1-34 |
pathogenic |
GRCh37/hg19 13q31.3(chr13:90644219-92557099)x1 | copy number loss | See cases [RCV000234861] | Chr13:90644219..92557099 [GRCh37] Chr13:13q31.3 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 | copy number gain | See cases [RCV000134104] | Chr13:19833130..114298614 [GRCh38] Chr13:20407270..115064089 [GRCh37] Chr13:19305270..114082191 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 | copy number loss | See cases [RCV000135610] | Chr13:18445862..114327173 [GRCh38] Chr13:19020001..115085141 [GRCh37] Chr13:10098739..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q22.3-31.3(chr13:77061780-92460406)x1 | copy number loss | See cases [RCV000136886] | Chr13:77061780..92460406 [GRCh38] Chr13:77635915..93112659 [GRCh37] Chr13:76533916..91910660 [NCBI36] Chr13:13q22.3-31.3 |
pathogenic |
GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3 | copy number gain | See cases [RCV000137102] | Chr13:88937651..114327173 [GRCh38] Chr13:89589905..115085141 [GRCh37] Chr13:88387906..114110750 [NCBI36] Chr13:13q31.2-34 |
pathogenic |
GRCh38/hg38 13q31.1-31.3(chr13:84005264-92784013)x1 | copy number loss | See cases [RCV000137272] | Chr13:84005264..92784013 [GRCh38] Chr13:84579399..93436266 [GRCh37] Chr13:83477400..92234267 [NCBI36] Chr13:13q31.1-31.3 |
likely pathogenic |
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 | copy number loss | See cases [RCV000137893] | Chr13:40942298..114340331 [GRCh38] Chr13:41516434..115085141 [GRCh37] Chr13:40414434..114123908 [NCBI36] Chr13:13q14.11-34 |
pathogenic |
GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3 | copy number gain | See cases [RCV000138742] | Chr13:78999318..114327106 [GRCh38] Chr13:79573453..115085141 [GRCh37] Chr13:78471454..114110683 [NCBI36] Chr13:13q31.1-34 |
pathogenic |
GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1 | copy number loss | See cases [RCV000138340] | Chr13:86788927..114340331 [GRCh38] Chr13:87441182..115085141 [GRCh37] Chr13:86239183..114123908 [NCBI36] Chr13:13q31.1-34 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 | copy number gain | See cases [RCV000139078] | Chr13:19833130..114327106 [GRCh38] Chr13:20407270..115085141 [GRCh37] Chr13:19305270..114110683 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q31.2-32.3(chr13:87944479-99866542)x1 | copy number loss | See cases [RCV000139047] | Chr13:87944479..99866542 [GRCh38] Chr13:88596734..100518796 [GRCh37] Chr13:87394735..99316797 [NCBI36] Chr13:13q31.2-32.3 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 | copy number gain | See cases [RCV000140004] | Chr13:18456040..114340285 [GRCh38] Chr13:19030180..115105760 [GRCh37] Chr13:17928180..114123862 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3 | copy number gain | See cases [RCV000141248] | Chr13:78964223..114340331 [GRCh38] Chr13:79538358..115085141 [GRCh37] Chr13:78436359..114123908 [NCBI36] Chr13:13q31.1-34 |
pathogenic |
GRCh38/hg38 13q31.1-31.3(chr13:84052824-91838339)x3 | copy number gain | See cases [RCV000141994] | Chr13:84052824..91838339 [GRCh38] Chr13:84626959..92490593 [GRCh37] Chr13:83524960..91288594 [NCBI36] Chr13:13q31.1-31.3 |
uncertain significance |
GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3 | copy number gain | See cases [RCV000141804] | Chr13:83288131..114342258 [GRCh38] Chr13:83862266..115107733 [GRCh37] Chr13:82760267..114125835 [NCBI36] Chr13:13q31.1-34 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 | copy number gain | See cases [RCV000142924] | Chr13:19671934..114340331 [GRCh38] Chr13:20246074..115085141 [GRCh37] Chr13:19144074..114123908 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q31.3(chr13:91283077-91394459)x1 | copy number loss | See cases [RCV000143094] | Chr13:91283077..91394459 [GRCh38] Chr13:91935331..92046713 [GRCh37] Chr13:90733332..90844714 [NCBI36] Chr13:13q31.3 |
pathogenic |
GRCh38/hg38 13q31.3(chr13:91282882-91394459)x1 | copy number loss | See cases [RCV000143162] | Chr13:91282882..91394459 [GRCh38] Chr13:91935136..92046713 [GRCh37] Chr13:90733137..90844714 [NCBI36] Chr13:13q31.3 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 | copy number gain | See cases [RCV000143462] | Chr13:18862146..114342258 [GRCh38] Chr13:19436286..115107733 [GRCh37] Chr13:18334286..114125835 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 | copy number gain | See cases [RCV000148126] | Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1 | copy number loss | See cases [RCV000240161] | Chr13:89796110..115083342 [GRCh37] Chr13:13q31.2-34 |
pathogenic |
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 | copy number gain | See cases [RCV000240150] | Chr13:19571503..115092569 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
GRCh37/hg19 13q31.3(chr13:91209639-94704856)x3 | copy number gain | See cases [RCV000240035] | Chr13:91209639..94704856 [GRCh37] Chr13:13q31.3 |
uncertain significance |
GRCh37/hg19 13q22.1-31.3(chr13:74459395-93481294)x1 | copy number loss | See cases [RCV000598789] | Chr13:74459395..93481294 [GRCh37] Chr13:13q22.1-31.3 |
pathogenic |
GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1 | copy number loss | See cases [RCV000449272] | Chr13:53551300..109850651 [GRCh37] Chr13:13q14.3-33.3 |
pathogenic |
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3 | copy number gain | See cases [RCV000449118] | Chr13:61424168..115107733 [GRCh37] Chr13:13q21.2-34 |
pathogenic |
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) | copy number gain | See cases [RCV000449142] | Chr13:19571503..115092510 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
GRCh37/hg19 13q31.1-31.3(chr13:86963003-93390362)x3 | copy number gain | See cases [RCV000446248] | Chr13:86963003..93390362 [GRCh37] Chr13:13q31.1-31.3 |
pathogenic |
GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3 | copy number gain | See cases [RCV000447429] | Chr13:82221361..115092569 [GRCh37] Chr13:13q31.1-34 |
pathogenic |
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733) | copy number gain | See cases [RCV000510722] | Chr13:56431743..115107733 [GRCh37] Chr13:13q21.1-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 | copy number gain | See cases [RCV000445886] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q31.1-33.1(chr13:81851091-102864674)x1 | copy number loss | See cases [RCV000448988] | Chr13:81851091..102864674 [GRCh37] Chr13:13q31.1-33.1 |
pathogenic |
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)x1 | copy number loss | See cases [RCV000448405] | Chr13:88073140..115107733 [GRCh37] Chr13:13q31.2-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436287-115107733) | copy number gain | See cases [RCV000510405] | Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4 | copy number gain | See cases [RCV000510281] | Chr13:71871468..115107733 [GRCh37] Chr13:13q21.33-34 |
pathogenic |
GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3 | copy number gain | See cases [RCV000510566] | Chr13:80058840..115107733 [GRCh37] Chr13:13q31.1-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 | copy number gain | See cases [RCV000511880] | Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q31.1-33.3(chr13:80572498-108719528)x1 | copy number loss | See cases [RCV000510890] | Chr13:80572498..108719528 [GRCh37] Chr13:13q31.1-33.3 |
pathogenic |
GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3 | copy number gain | See cases [RCV000512605] | Chr13:83435292..115107733 [GRCh37] Chr13:13q31.1-34 |
pathogenic |
GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3 | copy number gain | See cases [RCV000512571] | Chr13:53932358..96586363 [GRCh37] Chr13:13q14.3-32.1 |
pathogenic |
GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3 | copy number gain | See cases [RCV000512242] | Chr13:85176519..115107733 [GRCh37] Chr13:13q31.1-34 |
pathogenic |
Single allele | duplication | not provided [RCV000678035] | Chr13:91209639..94704856 [GRCh37] Chr13:13q31.3 |
likely pathogenic |
GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3 | copy number gain | not provided [RCV000683571] | Chr13:78590089..115107733 [GRCh37] Chr13:13q22.3-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 | copy number gain | not provided [RCV000738115] | Chr13:19058717..115103529 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q31.1-31.3(chr13:85005334-92461147)x1 | copy number loss | not provided [RCV000738268] | Chr13:85005334..92461147 [GRCh37] Chr13:13q31.1-31.3 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 | copy number gain | not provided [RCV000750643] | Chr13:19031237..115107157 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q21.1-31.3(chr13:57058434-94684615)x1 | copy number loss | not provided [RCV000750731] | Chr13:57058434..94684615 [GRCh37] Chr13:13q21.1-31.3 |
pathogenic |
GRCh37/hg19 13q31.3(chr13:91460305-92069153)x3 | copy number gain | not provided [RCV001006582] | Chr13:91460305..92069153 [GRCh37] Chr13:13q31.3 |
likely pathogenic |
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 | copy number gain | not provided [RCV000848025] | Chr13:61775567..115107733 [GRCh37] Chr13:13q21.2-34 |
pathogenic |
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 | copy number loss | not provided [RCV001006567] | Chr13:53262013..115107733 [GRCh37] Chr13:13q14.3-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 | copy number gain | not provided [RCV000849129] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
NC_000013.10:g.(?_92002837)_(103343314_?)del | deletion | Holoprosencephaly 5 [RCV001388033] | Chr13:92002837..103343314 [GRCh37] Chr13:13q31.3-33.1 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 | copy number gain | See cases [RCV001353184] | Chr13:19053605..115108528 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 | copy number gain | See cases [RCV001780076] | Chr13:1..115169878 [GRCh37] Chr13:13p13-q34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-114981726) | copy number gain | not specified [RCV002053035] | Chr13:19436286..114981726 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 | copy number gain | not provided [RCV001834436] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 | copy number gain | not provided [RCV001829235] | Chr13:42504540..108206269 [GRCh37] Chr13:13q14.11-33.3 |
pathogenic |
GRCh37/hg19 13q22.3-34(chr13:78514567-115107733) | copy number gain | not specified [RCV002053071] | Chr13:78514567..115107733 [GRCh37] Chr13:13q22.3-34 |
pathogenic |
GRCh37/hg19 13q31.1-34(chr13:79370012-115107733) | copy number loss | not specified [RCV002053072] | Chr13:79370012..115107733 [GRCh37] Chr13:13q31.1-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-115107733) | copy number gain | not specified [RCV002053036] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733) | copy number gain | not specified [RCV002053063] | Chr13:61424168..115107733 [GRCh37] Chr13:13q21.2-34 |
pathogenic |
GRCh37/hg19 13q31.1-34(chr13:85037147-115107733) | copy number gain | not specified [RCV002053073] | Chr13:85037147..115107733 [GRCh37] Chr13:13q31.1-34 |
pathogenic |
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733) | copy number loss | not specified [RCV002053074] | Chr13:88073140..115107733 [GRCh37] Chr13:13q31.2-34 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:31547 | AgrOrtholog |
COSMIC | MIR17 | COSMIC |
Ensembl Genes | ENSG00000284536 | Ensembl, ENTREZGENE |
Ensembl Transcript | ENST00000385012 | ENTREZGENE |
GTEx | ENSG00000284536 | GTEx |
HGNC ID | HGNC:31547 | ENTREZGENE |
Human Proteome Map | MIR17 | Human Proteome Map |
miRBase | MI0000071 | ENTREZGENE |
NCBI Gene | 406952 | ENTREZGENE |
OMIM | 609416 | OMIM |
PharmGKB | PA164722520 | PharmGKB |
RNAcentral | URS00002075FA | RNACentral |
URS000032AA22 | RNACentral | |
URS00004636A3 | RNACentral |