ADI1 acireductone dioxygenase 1

Information
Symbol
ADI1
Type
protein-coding
Description
acireductone dioxygenase 1
Entrez Gene ID
55256
Genome
hg19
Position
chr2:3,501,137-3,523,302
Genome
hg38
Position
chr2:3,497,366-3,519,531
MIM
613400 OMIM
HGNC
HGNC:30576 HGNC
Ensembl
ENSG00000182551 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 0
Likely benign 0 4
Uncertain significance 0 14
Ranking
ClinVar
0
0
0
18
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM APL1
SYNONYM ARD
SYNONYM ARD'
SYNONYM Fe-ARD
SYNONYM HMFT1638
SYNONYM MTCBP1
SYNONYM Ni-ARD
SYNONYM SIPL
SYNONYM mtnD
MIM 613400 OMIM
HGNC HGNC:30576 HGNC
Ensembl ENSG00000182551 Ensembl
AllianceGenome HGNC:30576
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000327435.11 hg38 chr2 3,497,366 3,519,531 22,166
ENST00000382093.5 hg38 chr2 3,498,453 3,517,747 19,295
ENST00000327435.11 hg19 chr2 3,501,137 3,523,302 22,166
ENST00000382093.5 hg19 chr2 3,502,224 3,521,518 19,295
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