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ABHD5 |
abhydrolase domain containing 5, lysophosphatidic acid acyltransferase |
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ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis |
OMIM ClinVar |
PMID:6181472 PMID:11590543 PMID:14708602 PMID:15136565 PMID:20022472 PMID:20520629 PMID:22373837 PMID:25741868 PMID:27025581 PMID:28492532 PMID:29130490 PMID:31883530 More...
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NCBI chr13:27,006,331...27,053,760
Ensembl chr13:27,006,208...27,056,744
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ANO10 |
anoctamin 10 |
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ISO |
ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis |
ClinVar |
PMID:11590543 PMID:25741868 PMID:28492532 |
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NCBI chr13:26,734,098...27,006,163
Ensembl chr13:26,734,107...27,006,539
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CDHR5 |
cadherin related family member 5 |
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ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:376,449...382,713
Ensembl chr 2:375,726...382,719
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CEND1 |
cell cycle exit and neuronal differentiation 1 |
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ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:487,817...490,704
Ensembl chr 2:487,821...490,699
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DEAF1 |
DEAF1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:404,514...427,584
Ensembl chr 2:404,533...427,542
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DRD4 |
dopamine receptor D4 |
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ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:398,766...401,539
Ensembl chr 2:398,766...402,433
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EPS8L2 |
EPS8 signaling adaptor L2 |
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ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:435,257...452,630
Ensembl chr 2:433,649...452,630
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GATD1 |
glutamine amidotransferase class 1 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:472,766...484,609
Ensembl chr 2:474,296...480,736
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HRAS |
HRas proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
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IRF7 |
interferon regulatory factor 7 |
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ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:372,235...375,572
Ensembl chr 2:372,238...375,378
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LMNTD2 |
lamin tail domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:323,642...329,782
Ensembl chr 2:323,647...329,660
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LRRC56 |
leucine rich repeat containing 56 |
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ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:303,836...323,701
Ensembl chr 2:304,430...323,699
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PHRF1 |
PHD and ring finger domains 1 |
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ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:340,536...371,699
Ensembl chr 2:340,528...371,692
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PIDD1 |
p53-induced death domain protein 1 |
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ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:499,294...505,740
Ensembl chr 2:499,303...504,871
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PNPLA2 |
patatin like phospholipase domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16644682 PMID:17187067 PMID:17576681 PMID:18445597 PMID:19763152 PMID:20307669 PMID:20370797 PMID:21073837 PMID:21170305 PMID:21544567 PMID:22406018 PMID:22832386 PMID:22990388 PMID:23232698 PMID:23449549 PMID:25287355 PMID:25363365 PMID:25741868 PMID:26922712 PMID:27869069 PMID:28391974 PMID:28492532 PMID:28499397 PMID:30738494 PMID:31525260 PMID:32041611 PMID:33569515 PMID:35460704 More...
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NCBI chr 2:513,065...517,962
Ensembl chr 2:513,077...518,182
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RASSF7 |
Ras association domain family member 7 |
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ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:329,830...332,505
Ensembl chr 2:329,851...332,520
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RPLP2 |
ribosomal protein lateral stalk subunit P2 |
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ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:507,891...509,818
Ensembl chr 2:507,848...510,782
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SCT |
secretin |
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ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:382,783...385,082
Ensembl chr 2:383,799...384,841
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SLC25A22 |
solute carrier family 25 member 22 |
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ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:491,288...498,773
Ensembl chr 2:491,293...498,767
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TALDO1 |
transaldolase 1 |
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ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:464,781...472,836
Ensembl chr 2:464,728...472,835
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TMEM80 |
transmembrane protein 80 |
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ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:428,297...433,533
Ensembl chr 2:428,303...433,528
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PNPLA2 |
patatin like phospholipase domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Neutral lipid storage disease without ichthyosis |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:35460704 |
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NCBI chr 2:513,065...517,962
Ensembl chr 2:513,077...518,182
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