Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Animal Mammary Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:24447120 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Animal Mammary Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:24447120 | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:12554859 | PMID:12624257 | PMID:15978578 | PMID:16381832 | PMID:17604727 | PMID:18408758 | PMID:20158877 | PMID:20400975 | PMID:21037258 | PMID:21055388 | PMID:21666078 | PMID:22285730 |
PMID:22294637 | PMID:22359598 | PMID:22674437 | PMID:22942713 | PMID:22973051 | PMID:23060436 | PMID:23085757 | PMID:23142051 | PMID:23201090 | PMID:23269581 | PMID:23292866 | PMID:23319430 |
PMID:23598416 | PMID:23733518 | PMID:23959088 | PMID:24011070 | PMID:24634990 | PMID:24839982 | PMID:25080937 | PMID:25258381 | PMID:25269744 | PMID:25313882 | PMID:25389292 | PMID:25400809 |
PMID:25444917 | PMID:25448600 | PMID:25588980 | PMID:25706326 | PMID:25839163 | PMID:26065676 | PMID:26160071 | PMID:26163491 | PMID:26251897 | PMID:26307673 | PMID:26346275 | PMID:26399456 |
PMID:26646931 | PMID:26781989 | PMID:26783726 | PMID:26872370 | PMID:26918939 | PMID:26951510 | PMID:26952538 | PMID:27038547 | PMID:27094578 | PMID:27447749 | PMID:27453764 | PMID:27662798 |
PMID:27813498 | PMID:28073380 | PMID:28126676 | PMID:28234972 | PMID:28324890 | PMID:28358369 | PMID:28431233 | PMID:28530657 | PMID:28612520 | PMID:28751779 | PMID:28848090 | PMID:29427661 |
PMID:29559347 | PMID:29773428 | PMID:29866054 | PMID:29883549 | PMID:29979193 | PMID:29981373 | PMID:30001527 | PMID:30575906 | PMID:30651148 | PMID:30818424 | PMID:31038761 | PMID:31059001 |
PMID:31081094 | PMID:31140610 | PMID:31255331 | PMID:31386624 | PMID:31451657 | PMID:31539136 | PMID:31608976 | PMID:31809227 | PMID:31841190 | PMID:31957742 | PMID:32063549 | PMID:32111227 |
PMID:32139259 | PMID:32366560 | PMID:32622012 | PMID:32705201 | PMID:33125105 | PMID:33306987 | PMID:33632305 | PMID:33647793 | PMID:33707464 | PMID:33811301 | PMID:34080652 | PMID:34787069 |
PMID:34825000 | PMID:35044282 | PMID:35844793 | PMID:35909537 | PMID:36166353 | PMID:36902184 | PMID:36989515 | PMID:37386746 | PMID:37599085 | PMID:38168113 |
MIR199A2 (Homo sapiens - human) |
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Mir199a-2 (Mus musculus - house mouse) |
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Mir199a2 (Rattus norvegicus - Norway rat) |
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MIR199-2 (Canis lupus familiaris - dog) |
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MIR199A-1 (Sus scrofa - pig) |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 | copy number gain | See cases [RCV000051854] | Chr1:157747246..176021247 [GRCh38] Chr1:157717036..175990383 [GRCh37] Chr1:155983660..174257006 [NCBI36] Chr1:1q23.1-25.1 |
pathogenic |
GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3 | copy number gain | See cases [RCV000051856] | Chr1:164922655..180061589 [GRCh38] Chr1:164891892..180030724 [GRCh37] Chr1:163158516..178297347 [NCBI36] Chr1:1q23.3-25.2 |
pathogenic |
GRCh38/hg38 1q24.3(chr1:171953097-172164645)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053679]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053679]|See cases [RCV000053679] | Chr1:171953097..172164645 [GRCh38] Chr1:171922237..172133785 [GRCh37] Chr1:170188860..170400408 [NCBI36] Chr1:1q24.3 |
benign |
GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1 | copy number loss | See cases [RCV000053917] | Chr1:166762832..175327423 [GRCh38] Chr1:166732069..175296559 [GRCh37] Chr1:164998693..173563182 [NCBI36] Chr1:1q24.1-25.1 |
pathogenic |
GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1 | copy number loss | See cases [RCV000053918] | Chr1:168314822..175299299 [GRCh38] Chr1:168284060..175268435 [GRCh37] Chr1:166550684..173535058 [NCBI36] Chr1:1q24.2-25.1 |
pathogenic |
GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1 | copy number loss | See cases [RCV000053914] | Chr1:161740907..173965154 [GRCh38] Chr1:161710697..173934292 [GRCh37] Chr1:159977321..172200915 [NCBI36] Chr1:1q23.3-25.1 |
pathogenic |
GRCh37/hg19 1q24.3(chr1:172050936-172181677) | copy number loss | Fetal growth restriction [RCV001797985] | Chr1:172050936..172181677 [GRCh37] Chr1:1q24.3 |
likely pathogenic |
GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1 | copy number loss | See cases [RCV000137128] | Chr1:169218236..178075834 [GRCh38] Chr1:169187474..178044969 [GRCh37] Chr1:167454098..176311592 [NCBI36] Chr1:1q24.2-25.2 |
pathogenic |
GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1 | copy number loss | See cases [RCV000142369] | Chr1:170929720..191065409 [GRCh38] Chr1:170898861..191034539 [GRCh37] Chr1:169165485..189301162 [NCBI36] Chr1:1q24.3-31.2 |
pathogenic |
GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1 | copy number loss | See cases [RCV000143292] | Chr1:163382523..175877022 [GRCh38] Chr1:163352313..175846158 [GRCh37] Chr1:161618937..174112781 [NCBI36] Chr1:1q23.3-25.1 |
pathogenic |
GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1 | copy number loss | See cases [RCV000143688] | Chr1:170036068..187555148 [GRCh38] Chr1:170005209..187524280 [GRCh37] Chr1:168271833..185790903 [NCBI36] Chr1:1q24.2-31.1 |
pathogenic |
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 | copy number gain | See cases [RCV000143515] | Chr1:149854269..180267197 [GRCh38] Chr1:149825831..180236332 [GRCh37] Chr1:148092455..178502955 [NCBI36] Chr1:1q21.2-25.2 |
pathogenic |
GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325) | copy number loss | not provided [RCV000767779] | Chr1:160369890..175796325 [GRCh37] Chr1:1q23.2-25.1 |
pathogenic |
GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 | copy number loss | See cases [RCV000447098] | Chr1:161676893..184071723 [GRCh37] Chr1:1q23.3-25.3 |
pathogenic |
GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)x1 | copy number loss | See cases [RCV000447593] | Chr1:169873155..181823980 [GRCh37] Chr1:1q24.2-25.3 |
pathogenic |
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)x1 | copy number loss | See cases [RCV000448686] | Chr1:171990029..195086758 [GRCh37] Chr1:1q24.3-31.3 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 | copy number gain | See cases [RCV000510383] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) | copy number gain | See cases [RCV000510926] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 | copy number gain | not provided [RCV000736305] | Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
Single allele | deletion | 1q24q25 microdeletion syndrome [RCV000754969] | Chr1:169095250..175778910 [GRCh37] Chr1:1q24.2-25.1 |
pathogenic |
GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3 | copy number gain | See cases [RCV000134876] | Chr1:171039975..186875957 [GRCh38] Chr1:171009116..186845089 [GRCh37] Chr1:169275740..185111712 [NCBI36] Chr1:1q24.3-31.1 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 | copy number gain | not provided [RCV000736295] | Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 | copy number loss | not provided [RCV000736717] | Chr1:159815642..177026983 [GRCh37] Chr1:1q23.2-25.2 |
pathogenic |
GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1 | copy number loss | not provided [RCV001005149] | Chr1:167430471..174635618 [GRCh37] Chr1:1q24.2-25.1 |
pathogenic |
NC_000001.10:g.(?_130980840)_(248900000_?)dup | duplication | Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] | Chr1:130980840..248900000 [GRCh37] Chr1:1q12-44 |
uncertain significance |
GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980) | copy number loss | not specified [RCV002053713] | Chr1:169873155..181823980 [GRCh37] Chr1:1q24.2-25.3 |
pathogenic |
GRCh37/hg19 1q24.3-25.1(chr1:171881608-175899893) | copy number loss | not specified [RCV002053725] | Chr1:171881608..175899893 [GRCh37] Chr1:1q24.3-25.1 |
pathogenic |
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758) | copy number loss | not specified [RCV002053736] | Chr1:171990029..195086758 [GRCh37] Chr1:1q24.3-31.3 |
pathogenic |
NC_000001.10:g.(?_171605065)_(173962123_?)dup | duplication | Autoimmune lymphoproliferative syndrome type 1 [RCV001939952] | Chr1:171605065..173962123 [GRCh37] Chr1:1q24.3-25.1 |
uncertain significance |
GRCh37/hg19 1q24.3(chr1:171649657-172399870)x1 | copy number loss | See cases [RCV002287554] | Chr1:171649657..172399870 [GRCh37] Chr1:1q24.3 |
uncertain significance |
GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1 | copy number loss | not provided [RCV003483966] | Chr1:164571371..175708060 [GRCh37] Chr1:1q23.3-25.1 |
pathogenic |
GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1 | copy number loss | not specified [RCV003987250] | Chr1:167994071..187711459 [GRCh37] Chr1:1q24.2-31.1 |
pathogenic |
NC_000001.10:g.(?_171605065)_(173962123_?)del | deletion | Autoimmune lymphoproliferative syndrome type 1 [RCV001947302]|not provided [RCV001947303] | Chr1:171605065..173962123 [GRCh37] Chr1:1q24.3-25.1 |
pathogenic|uncertain significance|no classifications from unflagged records |
GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623) | copy number gain | not provided [RCV000767621] | Chr1:169423492..180367623 [GRCh37] Chr1:1q24.2-25.3 |
pathogenic |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | |
High | |||||||||||||||||
Medium | 2 | 5 | 2 | 1 | 13 | 2 | 7 | 8 | 8 | 7 | 56 | 4 | 4 | 1 | |||
Low | 1667 | 1620 | 744 | 129 | 389 | 73 | 1881 | 967 | 439 | 108 | 795 | 905 | 60 | 1 | 882 | 1178 | 2 |
Below cutoff | 258 | 297 | 258 | 91 | 44 | 59 | 581 | 358 | 397 | 52 | 133 | 164 | 32 | 134 | 365 | 1 |
RefSeq Transcripts | NR_029618 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AL137157 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
CP068277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LM608350 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000385289 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NR_029618 | ||||||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:31572 | AgrOrtholog |
COSMIC | MIR199A2 | COSMIC |
Ensembl Genes | ENSG00000208024 | Ensembl, ENTREZGENE |
Ensembl Transcript | ENST00000385289 | ENTREZGENE |
GTEx | ENSG00000208024 | GTEx |
HGNC ID | HGNC:31572 | ENTREZGENE |
Human Proteome Map | MIR199A2 | Human Proteome Map |
miRBase | MI0000281 | ENTREZGENE |
NCBI Gene | 406977 | ENTREZGENE |
OMIM | 610720 | OMIM |
PharmGKB | PA164722570 | PharmGKB |
RNAcentral | URS00003F2D94 | RNACentral |
URS000043F622 | RNACentral | |
URS0000554A4F | RNACentral |