MAMMALIAN PHENOTYPE - ANNOTATIONS
The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term: abnormal circulating lactate dehydrogenase level
Accession: MP:0011970
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Definition: abnormal blood level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate; measurements of circulating levels are used clinically as a diagnostic indicator of tissue breakdown, some forms of cancer or particular infection types
Synonyms: exact_synonym: abnormal circulating LDH level
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Arv1
ARV1 homolog, fatty acid homeostasis modulator
IAGP
MGI
PMID:29491146
NCBI chr 8:125,448,765...125,469,533
Ensembl chr 8:125,448,878...125,460,862
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Cdipt
CDP-diacylglycerol--inositol 3-phosphatidyltransferase
IEA
MGI
NCBI chr 7:126,575,630...126,579,671
Ensembl chr 7:126,575,086...126,579,673
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Pcmt1
protein-L-isoaspartate (D-aspartate) O-methyltransferase 1
IAGP
MGI
PMID:9482793
NCBI chr10:7,503,608...7,556,922
Ensembl chr10:7,505,137...7,556,900
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Adar
adenosine deaminase, RNA-specific
IAGP
MGI
PMID:14613934
NCBI chr 3:89,622,321...89,660,756
Ensembl chr 3:89,622,329...89,660,753
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Asah1
N-acylsphingosine amidohydrolase 1
IAGP
MGI
PMID:29908121
NCBI chr 8:41,793,683...41,850,681
Ensembl chr 8:41,793,234...41,827,810
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Bbs4
Bardet-Biedl syndrome 4
IAGP
MGI
PMID:16794820
NCBI chr 9:59,229,249...59,260,791
Ensembl chr 9:59,229,273...59,260,791
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Bcr
BCR activator of RhoGEF and GTPase
IAGP
MGI
PMID:7889565
NCBI chr10:74,896,384...75,020,753
Ensembl chr10:74,896,424...75,020,753
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Cul9
cullin 9
IEA
MGI
NCBI chr17:46,811,535...46,857,314
Ensembl chr17:46,811,498...46,857,314
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Dhtkd1
dehydrogenase E1 and transketolase domain containing 1
IAGP
MGI
PMID:29661920
NCBI chr 2:5,901,030...5,947,648
Ensembl chr 2:5,900,926...5,947,603
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Fbxl5
F-box and leucine-rich repeat protein 5
IAGP
MGI
PMID:21907140
NCBI chr 5:43,901,958...43,939,529
Ensembl chr 5:43,901,957...43,978,980
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Gprc5c
G protein-coupled receptor, family C, group 5, member C
IAGP
MGI
PMID:21840300
NCBI chr11:114,741,976...114,763,443
Ensembl chr11:114,741,978...114,763,443
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Gt(ROSA)26Sor
gene trap ROSA 26, Philippe Soriano
IAGP
MGI
PMID:21779369
NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,055,336
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Hmgb1
high mobility group box 1
IAGP
MGI
PMID:24361123
NCBI chr 5:148,983,512...148,989,867
Ensembl chr 5:148,983,512...149,121,299
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Hyal2
hyaluronoglucosaminidase 2
IAGP
MGI
PMID:18772348
NCBI chr 9:107,445,096...107,449,975
Ensembl chr 9:107,445,144...107,449,978
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Ikbkg
inhibitor of kappaB kinase gamma
IAGP
MGI
PMID:23871670
NCBI chr X:73,436,883...73,498,013
Ensembl chr X:73,436,896...73,497,460
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Immt
inner membrane protein, mitochondrial
IAGP
MGI
PMID:36974636
NCBI chr 6:71,806,200...71,852,250
Ensembl chr 6:71,808,315...71,854,372
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Jag1
jagged 1
IAGP
MGI
PMID:21062863
NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564
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Lrig3
leucine-rich repeats and immunoglobulin-like domains 3
IEA
MGI
NCBI chr10:125,802,088...125,851,228
Ensembl chr10:125,802,037...125,851,228
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Lyz2
lysozyme 2
IAGP
MGI
PMID:17404282 PMID:22491258
NCBI chr10:117,113,446...117,118,177
Ensembl chr10:117,113,236...117,118,226
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Nfe2l2
nuclear factor, erythroid derived 2, like 2
IEA
MGI
NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985
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Pilra
paired immunoglobin-like type 2 receptor alpha
IAGP
MGI
PMID:23142774
NCBI chr 5:137,820,214...137,834,540
Ensembl chr 5:137,820,214...137,834,543
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Prdx1
peroxiredoxin 1
IAGP
MGI
PMID:12891360
NCBI chr 4:116,542,796...116,557,196
Ensembl chr 4:116,542,741...116,558,019
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Prf1
perforin 1 (pore forming protein)
IAGP
MGI
PMID:23160464
NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459
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Prss12
serine protease 12 neurotrypsin (motopsin)
IEA
MGI
NCBI chr 3:123,240,562...123,300,251
Ensembl chr 3:123,240,562...123,300,246
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Qsox1
quiescin Q6 sulfhydryl oxidase 1
IEA
MGI
NCBI chr 1:155,653,901...155,688,645
Ensembl chr 1:155,651,775...155,688,635
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Rab27a
RAB27A, member RAS oncogene family
IAGP
MGI
PMID:23160464
NCBI chr 9:72,952,092...73,004,905
Ensembl chr 9:72,952,136...73,004,911
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Rasa3
RAS p21 protein activator 3
IAGP
MGI
PMID:33370780
NCBI chr 8:13,617,218...13,727,590
Ensembl chr 8:13,616,948...13,727,603
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Rnf168
ring finger protein 168
IEA
MGI
NCBI chr16:32,096,279...32,120,260
Ensembl chr16:32,096,277...32,120,252
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Slc5a10
solute carrier family 5 (sodium/glucose cotransporter), member 10
IAGP
MGI
PMID:23451068
NCBI chr11:61,563,608...61,611,641
Ensembl chr11:61,563,607...61,611,652
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Speer6-ps1
spermatogenesis associated glutamate (E)-rich protein 6, pseudogene 1
IAGP
MGI
PMID:14613934 PMID:21907140 PMID:27689697
NCBI chr13:3,199,475...3,239,678
Ensembl chr13:3,236,206...3,239,317 Ensembl chr13:3,236,206...3,239,317
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Stx11
syntaxin 11
IAGP
MGI
PMID:23160464
NCBI chr10:12,813,961...12,840,242
Ensembl chr10:12,813,953...12,840,042
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Tnfrsf1a
tumor necrosis factor receptor superfamily, member 1a
IAGP
MGI
PMID:23871670
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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Tomm6
translocase of outer mitochondrial membrane 6
IEA
MGI
NCBI chr17:47,997,570...47,999,311
Ensembl chr17:47,997,571...47,999,311
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Trmu
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
IAGP
MGI
PMID:27689697
NCBI chr15:85,763,505...85,781,595
Ensembl chr15:85,763,513...85,781,595
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Tyk2
tyrosine kinase 2
IEA
MGI
NCBI chr 9:21,015,364...21,042,689
Ensembl chr 9:21,015,364...21,042,539
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Tysnd1
trypsin domain containing 1
IAGP
MGI
PMID:23459139
NCBI chr10:61,531,279...61,538,552
Ensembl chr10:61,531,293...61,538,552
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Uaca
uveal autoantigen with coiled-coil domains and ankyrin repeats
IAGP
MGI
PMID:19637241
NCBI chr 9:60,700,488...60,787,713
Ensembl chr 9:60,701,824...60,787,652
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Ube3c
ubiquitin protein ligase E3C
IEA
MGI
NCBI chr 5:29,774,240...29,881,075
Ensembl chr 5:29,774,240...29,881,090
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Unc93b1
unc-93 homolog B1, TLR signaling regulator
IAGP
MGI
PMID:21683627
NCBI chr19:3,985,222...3,999,340
Ensembl chr19:3,985,186...3,999,340
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Wdr45
WD repeat domain 45
IAGP
MGI
PMID:34043061
NCBI chr X:7,588,212...7,594,439
Ensembl chr X:7,580,572...7,594,445
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Zfp36
zinc finger protein 36
IAGP
MGI
PMID:22491258
NCBI chr 7:28,076,208...28,078,680
Ensembl chr 7:28,076,209...28,079,678
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Zscan10
zinc finger and SCAN domain containing 10
IAGP
MGI
PMID:25111779
NCBI chr17:23,819,800...23,829,993
Ensembl chr17:23,819,830...23,829,993
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