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|
Symbol |
Object Name |
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G |
H |
LOC130009384 |
ATAC-STARR-seq lymphoblastoid active region 7466 |
|
IAGP |
ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:23,806,922...23,807,071
|
|
G |
H |
LOC130009385 |
ATAC-STARR-seq lymphoblastoid active region 7467 |
|
IAGP |
ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:23,808,355...23,808,404
|
|
G |
H |
LOC130009386 |
ATAC-STARR-seq lymphoblastoid active region 7468 |
|
IAGP |
ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:23,866,121...23,866,260
|
|
G |
N |
Mipep |
mitochondrial intermediate peptidase |
|
ISO |
ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | ClinVar Annotator: match by term: MIPEP-related condition |
OMIM ClinVar |
PMID:16199547 PMID:24033266 PMID:25741868 PMID:26762739 PMID:27799064 PMID:28492532 PMID:33587123 PMID:34620555 PMID:36413997 More...
|
|
NCBI chrNW_004624776:13,877,579...14,034,875
Ensembl chrNW_004624776:13,880,417...14,037,610
|
|
G |
G |
MIPEP |
mitochondrial intermediate peptidase |
|
ISO |
ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | ClinVar Annotator: match by term: MIPEP-related condition |
OMIM ClinVar |
PMID:16199547 PMID:24033266 PMID:25741868 PMID:26762739 PMID:27799064 PMID:28492532 PMID:33587123 PMID:34620555 PMID:36413997 More...
|
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NCBI chr 3:3,578,057...3,726,783
Ensembl chr 3:3,578,193...3,726,746
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G |
P |
MIPEP |
mitochondrial intermediate peptidase |
|
ISO |
ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | ClinVar Annotator: match by term: MIPEP-related condition |
OMIM ClinVar |
PMID:16199547 PMID:24033266 PMID:25741868 PMID:26762739 PMID:27799064 PMID:28492532 PMID:33587123 PMID:34620555 PMID:36413997 More...
|
|
NCBI chr11:2,675,604...2,790,760
Ensembl chr11:2,670,000...2,790,727
|
|
G |
S |
Mipep |
mitochondrial intermediate peptidase |
|
ISO |
ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | ClinVar Annotator: match by term: MIPEP-related condition |
OMIM ClinVar |
PMID:16199547 PMID:24033266 PMID:25741868 PMID:26762739 PMID:27799064 PMID:28492532 PMID:33587123 PMID:34620555 PMID:36413997 More...
|
|
NCBI chrNW_004936688:1,592,810...1,736,896
Ensembl chrNW_004936688:1,592,821...1,737,282
|
|
G |
D |
MIPEP |
mitochondrial intermediate peptidase |
|
ISO |
ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | ClinVar Annotator: match by term: MIPEP-related condition |
OMIM ClinVar |
PMID:16199547 PMID:24033266 PMID:25741868 PMID:26762739 PMID:27799064 PMID:28492532 PMID:33587123 PMID:34620555 PMID:36413997 More...
|
|
NCBI chr25:14,755,474...14,930,412
Ensembl chr25:14,753,596...14,930,369
|
|
G |
B |
MIPEP |
mitochondrial intermediate peptidase |
|
ISO |
ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | ClinVar Annotator: match by term: MIPEP-related condition |
OMIM ClinVar |
PMID:16199547 PMID:24033266 PMID:25741868 PMID:26762739 PMID:27799064 PMID:28492532 PMID:33587123 PMID:34620555 PMID:36413997 More...
|
|
NCBI chr13:5,040,237...5,207,674
Ensembl chr13:23,334,267...23,500,582
|
|
G |
C |
Mipep |
mitochondrial intermediate peptidase |
|
ISO |
ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | ClinVar Annotator: match by term: MIPEP-related condition |
OMIM ClinVar |
PMID:16199547 PMID:24033266 PMID:25741868 PMID:26762739 PMID:27799064 PMID:28492532 PMID:33587123 PMID:34620555 PMID:36413997 More...
|
|
NCBI chrNW_004955497:4,065,090...4,196,999
Ensembl chrNW_004955497:4,062,677...4,196,889
|
|
G |
R |
Mipep |
mitochondrial intermediate peptidase |
|
ISO |
ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | ClinVar Annotator: match by term: MIPEP-related condition |
OMIM ClinVar |
PMID:16199547 PMID:24033266 PMID:25741868 PMID:26762739 PMID:27799064 PMID:28492532 PMID:33587123 PMID:34620555 PMID:36413997 More...
|
|
NCBI chr15:34,926,198...35,051,722
Ensembl chr15:34,926,207...35,051,727
|
|
G |
M |
Mipep |
mitochondrial intermediate peptidase |
|
ISO |
ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | ClinVar Annotator: match by term: MIPEP-related condition |
OMIM ClinVar |
PMID:16199547 PMID:24033266 PMID:25741868 PMID:26762739 PMID:27799064 PMID:28492532 PMID:33587123 PMID:34620555 PMID:36413997 More...
|
|
NCBI chr14:61,022,011...61,142,930
Ensembl chr14:61,022,022...61,142,927
|
|
G |
H |
MIPEP |
mitochondrial intermediate peptidase |
|
IAGP |
ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | ClinVar Annotator: match by term: MIPEP-related condition |
OMIM ClinVar |
PMID:16199547 PMID:24033266 PMID:25741868 PMID:26762739 PMID:27799064 PMID:28492532 PMID:33587123 PMID:34620555 PMID:36413997 More...
|
|
NCBI chr13:23,730,189...23,889,400
Ensembl chr13:23,730,189...23,889,400
|
|
G |
H |
PCOTH |
prostate and testis expressed opposite C1QTNF9B and MIPEP |
|
IAGP |
ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome ClinVar Annotator: match by term: MIPEP-related condition |
ClinVar |
PMID:25741868 PMID:28492532 PMID:36413997 |
|
NCBI chr13:23,888,868...23,892,103
Ensembl chr13:23,888,749...23,897,263
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