Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Chemical and Drug Induced Liver Injury | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:28844483 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Chemical and Drug Induced Liver Injury | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:28844483 | |
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# | Reference Title | Reference Citation |
1. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:12554859 | PMID:14573789 | PMID:16381832 | PMID:17604727 | PMID:21037258 | PMID:21845495 | PMID:21851624 | PMID:22028325 | PMID:22396742 | PMID:23639576 | PMID:23715501 | PMID:23743335 |
PMID:24002436 | PMID:24398877 | PMID:24691499 | PMID:24748184 | PMID:25096247 | PMID:25203061 | PMID:25285168 | PMID:25405200 | PMID:25412959 | PMID:25602366 | PMID:25960215 | PMID:25984739 |
PMID:26147452 | PMID:26646931 | PMID:26722431 | PMID:26731713 | PMID:26803515 | PMID:26820911 | PMID:26864161 | PMID:26909612 | PMID:26942205 | PMID:27035759 | PMID:27133066 | PMID:27163678 |
PMID:27305450 | PMID:27480251 | PMID:27573550 | PMID:27959429 | PMID:28011622 | PMID:28040329 | PMID:28098896 | PMID:28122647 | PMID:28164432 | PMID:28358423 | PMID:28618953 | PMID:28798470 |
PMID:28870889 | PMID:29047232 | PMID:29109785 | PMID:29131027 | PMID:29152664 | PMID:29518783 | PMID:29782828 | PMID:30044042 | PMID:30059664 | PMID:30201567 | PMID:30232383 | PMID:30278464 |
PMID:30332302 | PMID:30334578 | PMID:30474270 | PMID:30542715 | PMID:30720112 | PMID:30782188 | PMID:30844391 | PMID:30945295 | PMID:30948333 | PMID:30959135 | PMID:31127902 | PMID:31132669 |
PMID:31190349 | PMID:31301177 | PMID:31496625 | PMID:31654502 | PMID:31677346 | PMID:31789416 | PMID:31903950 | PMID:31930555 | PMID:31960990 | PMID:32172218 | PMID:32196598 | PMID:32228703 |
PMID:32335998 | PMID:32533463 | PMID:32534701 | PMID:32919420 | PMID:33200800 | PMID:34098485 | PMID:34310900 | PMID:34600339 | PMID:34681562 | PMID:34718169 | PMID:34814928 | PMID:35008751 |
PMID:35708677 | PMID:36227673 | PMID:36529725 | PMID:36809521 | PMID:37762600 |
MIR194-1 (Homo sapiens - human) |
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Mir194-1 (Mus musculus - house mouse) |
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Mir194-1 (Rattus norvegicus - Norway rat) |
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MIR194 (Canis lupus familiaris - dog) |
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MIR194B (Sus scrofa - pig) |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 1q41(chr1:215206760-222004068)x1 | copy number loss | See cases [RCV000050298] | Chr1:215206760..222004068 [GRCh38] Chr1:215380103..222177410 [GRCh37] Chr1:213446726..220244033 [NCBI36] Chr1:1q41 |
pathogenic |
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 | copy number gain | See cases [RCV000050981] | Chr1:214023812..248918469 [GRCh38] Chr1:214197155..249212668 [GRCh37] Chr1:212263778..247179291 [NCBI36] Chr1:1q32.3-44 |
pathogenic |
GRCh38/hg38 1q41(chr1:215447347-221971832)x3 | copy number gain | See cases [RCV000051874] | Chr1:215447347..221971832 [GRCh38] Chr1:215620690..222145174 [GRCh37] Chr1:213687313..220211797 [NCBI36] Chr1:1q41 |
pathogenic |
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 | copy number gain | See cases [RCV000051857] | Chr1:187143981..224299417 [GRCh38] Chr1:187113113..224487119 [GRCh37] Chr1:185379736..222553742 [NCBI36] Chr1:1q31.1-42.11 |
pathogenic |
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 | copy number gain | See cases [RCV000051861] | Chr1:209646207..248931113 [GRCh38] Chr1:209819552..249225312 [GRCh37] Chr1:207886175..247191935 [NCBI36] Chr1:1q32.2-44 |
pathogenic |
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 | copy number gain | See cases [RCV000134979] | Chr1:209963625..248918469 [GRCh38] Chr1:210136970..249212668 [GRCh37] Chr1:208203593..247179291 [NCBI36] Chr1:1q32.2-44 |
pathogenic |
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 | copy number gain | See cases [RCV000142054] | Chr1:204764914..225408698 [GRCh38] Chr1:204734042..225596400 [GRCh37] Chr1:203000665..223663023 [NCBI36] Chr1:1q32.1-42.12 |
pathogenic |
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 | copy number gain | See cases [RCV000143727] | Chr1:207346642..248930485 [GRCh38] Chr1:207519987..249224684 [GRCh37] Chr1:205586610..247191307 [NCBI36] Chr1:1q32.2-44 |
pathogenic |
GRCh38/hg38 1q41(chr1:215206760-222004068)x1 | copy number loss | See cases [RCV000148255] | Chr1:215206760..222004068 [GRCh38] Chr1:215380103..222177410 [GRCh37] Chr1:213446726..220244033 [NCBI36] Chr1:1q41 |
pathogenic |
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 | copy number gain | See cases [RCV000240137] | Chr1:197811907..228997888 [GRCh37] Chr1:1q31.3-42.13 |
pathogenic |
Single allele | deletion | Loeys-Dietz syndrome 4 [RCV000210452] | Chr1:215588712..222145072 [GRCh37] Chr1:1q41 |
pathogenic |
Single allele | deletion | Usher syndrome [RCV000505151] | Chr1:216066818..222607612 [GRCh38] Chr1:216240159..222780953 [GRCh37] Chr1:1q41 |
likely pathogenic |
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 | copy number gain | See cases [RCV000449172] | Chr1:195483439..249213000 [GRCh37] Chr1:1q31.3-44 |
pathogenic |
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 | copy number gain | See cases [RCV000449210] | Chr1:214697099..249224684 [GRCh37] Chr1:1q41-44 |
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 1q41-44(chr1:218252551-249224684)x3 | copy number gain | not provided [RCV000684700] | Chr1:218252551..249224684 [GRCh37] Chr1:1q41-44 |
pathogenic |
GRCh37/hg19 1q41(chr1:220262511-220346373)x1 | copy number loss | not provided [RCV000684703] | Chr1:220262511..220346373 [GRCh37] Chr1:1q41 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 | copy number gain | not provided [RCV000736305] | Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
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 1q25.3-41(chr1:185644663-221698833)x3 | copy number gain | not provided [RCV000749265] | Chr1:185644663..221698833 [GRCh37] Chr1:1q25.3-41 |
pathogenic |
GRCh37/hg19 1q41(chr1:219379258-222049547)x3 | copy number gain | not provided [RCV000848714] | Chr1:219379258..222049547 [GRCh37] Chr1:1q41 |
uncertain significance |
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 | copy number gain | not provided [RCV001005175] | Chr1:219916966..239004378 [GRCh37] Chr1:1q41-43 |
pathogenic |
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 | copy number gain | not provided [RCV000845852] | Chr1:182388773..249111240 [GRCh37] Chr1:1q25.3-44 |
pathogenic |
GRCh37/hg19 1q41(chr1:219959610-220609144)x3 | copy number gain | not provided [RCV001005177] | Chr1:219959610..220609144 [GRCh37] Chr1:1q41 |
uncertain significance |
GRCh37/hg19 1q41-42.11(chr1:219734913-224104993)x1 | copy number loss | not provided [RCV001005174] | Chr1:219734913..224104993 [GRCh37] Chr1:1q41-42.11 |
pathogenic |
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 | copy number gain | See cases [RCV001194578] | Chr1:210152794..249218992 [GRCh37] Chr1:1q32.2-44 |
pathogenic |
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 | copy number gain | See cases [RCV001007407] | Chr1:204045948..249218992 [GRCh37] Chr1:1q32.1-44 |
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 1q41(chr1:220070126-220600061)x3 | copy number gain | not provided [RCV001829108] | Chr1:220070126..220600061 [GRCh37] Chr1:1q41 |
uncertain significance |
Single allele | deletion | Loeys-Dietz syndrome 4 [RCV001837015] | Chr1:215199578..223035427 [GRCh37] Chr1:1q41 |
pathogenic |
NC_000001.10:g.(?_220088791)_(220406225_?)dup | duplication | Martsolf syndrome [RCV003116595] | Chr1:220088791..220406225 [GRCh37] Chr1:1q41 |
uncertain significance |
NC_000001.10:g.(?_218520044)_(220986760_?)del | deletion | Martsolf syndrome [RCV003116596] | Chr1:218520044..220986760 [GRCh37] Chr1:1q41 |
pathogenic |
NC_000001.10:g.(?_220088791)_(220445679_?)del | deletion | not provided [RCV003119869] | Chr1:220088791..220445679 [GRCh37] Chr1:1q41 |
pathogenic |
NC_000001.10:g.(?_220088791)_(220986760_?)dup | duplication | not provided [RCV003119870] | Chr1:220088791..220986760 [GRCh37] Chr1:1q41 |
uncertain significance |
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 | copy number gain | See cases [RCV002287837] | Chr1:197867914..249224684 [GRCh37] Chr1:1q31.3-44 |
pathogenic |
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 | copy number loss | Orofacial cleft 2 [RCV002481175] | Chr1:228006998..228061271 [GRCh38] Chr1:1q32.2-42.13 |
association |
GRCh37/hg19 1q41(chr1:214853277-222111742)x1 | copy number loss | not provided [RCV003484033] | Chr1:214853277..222111742 [GRCh37] Chr1:1q41 |
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 | adipose tissue | appendage | entire extraembryonic component | |
High | ||||||||||||||||
Medium | 1 | 3 | 1 | |||||||||||||
Low | 108 | 46 | 60 | 37 | 197 | 35 | 243 | 31 | 78 | 50 | 96 | 111 | 7 | 43 | 83 | 1 |
Below cutoff | 73 | 35 | 22 | 9 | 19 | 5 | 130 | 37 | 39 | 10 | 24 | 19 | 4 | 47 | 68 |
RefSeq Transcripts | NG_041799 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NR_029711 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC103590 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
CP068277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LM608527 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000384892 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NR_029711 | ||||||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:31564 | AgrOrtholog |
COSMIC | MIR194-1 | COSMIC |
Ensembl Genes | ENSG00000207624 | Ensembl, ENTREZGENE |
Ensembl Transcript | ENST00000384892 | ENTREZGENE |
GTEx | ENSG00000207624 | GTEx |
HGNC ID | HGNC:31564 | ENTREZGENE |
Human Proteome Map | MIR194-1 | Human Proteome Map |
miRBase | MI0000488 | ENTREZGENE |
NCBI Gene | 406969 | ENTREZGENE |
OMIM | 610940 | OMIM |
PharmGKB | PA164722553 | PharmGKB |
RNAcentral | URS000029C2DC | RNACentral |
URS00002D5B50 | RNACentral |