Term: Abnormal pericardium morphology
Accession: HP:0001697
browse the term
Definition: An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery.
Synonyms: exact_synonym: Abnormality of the pericardium
xref: Fyler:1900; UMLS:C4025754
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TSC1
TSC complex subunit 1
IAGP
HPO
ORPHA:538
NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
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TSC2
TSC complex subunit 2
IAGP
HPO
ORPHA:538
NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
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GATA6
GATA binding protein 6
IAGP
HPO
ORPHA:2255
NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
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PRG4
proteoglycan 4
IAGP
HPO
MIM:208250
NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567
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TRIM37
tripartite motif containing 37
IAGP
HPO
MIM:253250
NCBI chr17:58,967,201...59,106,880
Ensembl chr17:58,982,638...59,106,921
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ABCC6
ATP binding cassette subfamily C member 6
IAGP
HPO
ORPHA:51608
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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ABCC9
ATP binding cassette subfamily C member 9
IAGP
HPO
MIM:239850
NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543
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ACADVL
acyl-CoA dehydrogenase very long chain
IAGP
HPO
ORPHA:26793
NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266
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ADAMTS3
ADAM metallopeptidase with thrombospondin type 1 motif 3
IAGP
HPO
ORPHA:2136
NCBI chr 4:72,280,969...72,569,221
Ensembl chr 4:72,280,969...72,569,221
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AEBP1
AE binding protein 1
IAGP
HPO
ORPHA:536532
NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562
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ALG9
ALG9 alpha-1,2-mannosyltransferase
IAGP
HPO
MIM:608776 ORPHA:79328
NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581
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BLTP1
bridge-like lipid transfer protein family member 1
IAGP
HPO
MIM:617822
NCBI chr 4:122,152,331...122,362,752
Ensembl chr 4:122,152,331...122,364,167
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CALCRL
calcitonin receptor like receptor
IAGP
HPO
MIM:618773
NCBI chr 2:187,341,964...187,448,252
Ensembl chr 2:187,341,964...187,448,460
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CCBE1
collagen and calcium binding EGF domains 1
IAGP
HPO
MIM:235510 ORPHA:2136
NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662
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CDH23
cadherin related 23
IAGP
HPO
ORPHA:91347
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
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CLCNKB
chloride voltage-gated channel Kb
IAGP
HPO
ORPHA:358
NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311
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DNASE1L3
deoxyribonuclease 1L3
IAGP
HPO
ORPHA:36412
NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697
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DPH5
diphthamide biosynthesis 5
IAGP
HPO
MIM:620070
NCBI chr 1:100,989,623...101,025,784
Ensembl chr 1:100,989,623...101,026,088
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EIF2AK4
eukaryotic translation initiation factor 2 alpha kinase 4
IAGP
HPO
ORPHA:199241
NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
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ENPP1
ectonucleotide pyrophosphatase/phosphodiesterase 1
IAGP
HPO
ORPHA:51608
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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EPHB4
EPH receptor B4
IAGP
HPO
MIM:617300
NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
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FAT4
FAT atypical cadherin 4
IAGP
HPO
ORPHA:2136
NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
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GBA1
glucosylceramidase beta 1
IAGP
HPO
ORPHA:77261
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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HLA-DRB1
major histocompatibility complex, class II, DR beta 1
IAGP
HPO
MIM:181000
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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IFIH1
interferon induced with helicase C domain 1
IAGP
HPO
MIM:615846
NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
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IRAK1
interleukin 1 receptor associated kinase 1
IAGP
HPO
ORPHA:93552
NCBI chr X:154,010,507...154,019,902
Ensembl chr X:154,010,506...154,019,902
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ITK
IL2 inducible T cell kinase
IAGP
HPO
MIM:613011
NCBI chr 5:157,180,840...157,255,185
Ensembl chr 5:157,142,933...157,255,185
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LETM1
leucine zipper and EF-hand containing transmembrane protein 1
IAGP
HPO
MIM:620089
NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
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LMNA
lamin A/C
IAGP
HPO
MIM:115200 ORPHA:300751
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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LYST
lysosomal trafficking regulator
IAGP
HPO
ORPHA:167
NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724
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MAF
MAF bZIP transcription factor
IAGP
HPO
ORPHA:1272
NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737
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MCM10
minichromosome maintenance 10 replication initiation factor
IAGP
HPO
MIM:619313
NCBI chr10:13,161,558...13,211,110
Ensembl chr10:13,161,558...13,211,110
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MTO1
mitochondrial tRNA translation optimization 1
IAGP
HPO
MIM:614702
NCBI chr 6:73,461,737...73,509,236
Ensembl chr 6:73,461,578...73,509,236
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MYBPC3
myosin binding protein C3
IAGP
HPO
MIM:115197
NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702
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MYRF
myelin regulatory factor
IAGP
HPO
MIM:618280
NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518
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PLVAP
plasmalemma vesicle associated protein
IAGP
HPO
MIM:618183
NCBI chr19:17,351,455...17,377,342
Ensembl chr19:17,351,450...17,377,342
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PMM2
phosphomannomutase 2
IAGP
HPO
MIM:212065 ORPHA:79318
NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534
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PPP1R13L
protein phosphatase 1 regulatory subunit 13 like
IAGP
HPO
MIM:620519
NCBI chr19:45,379,638...45,406,361
Ensembl chr19:45,379,638...45,406,349
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PRKAG2
protein kinase AMP-activated non-catalytic subunit gamma 2
IAGP
HPO
MIM:261740
NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214
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PTPN14
protein tyrosine phosphatase non-receptor type 14
IAGP
HPO
MIM:613611
NCBI chr 1:214,348,700...214,551,602
Ensembl chr 1:214,348,700...214,552,449
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RNU7-1
RNA, U7 small nuclear 1
IAGP
HPO
MIM:619487
NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878
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SAT1
spermidine/spermine N1-acetyltransferase 1
IAGP
HPO
ORPHA:93552
NCBI chr X:23,783,173...23,786,210
Ensembl chr X:23,783,173...23,786,210
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SERPINA11
serpin family A member 11
IAGP
ClinVar Annotator: match by term: Pericardial effusion
ClinVar
PMID:25741868
NCBI chr14:94,442,464...94,452,800
Ensembl chr14:94,442,464...94,452,800
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SLC12A3
solute carrier family 12 member 3
IAGP
HPO
ORPHA:358
NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
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SMAD4
SMAD family member 4
IAGP
HPO
MIM:139210
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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SPP1
secreted phosphoprotein 1
IAGP
HPO
ORPHA:93552
NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
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STAT4
signal transducer and activator of transcription 4
IAGP
HPO
ORPHA:93552
NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
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TCTN2
tectonic family member 2
IAGP
HPO
MIM:613885
NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399
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UQCRFS1
ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
IAGP
HPO
MIM:618775
NCBI chr19:29,205,320...29,213,151
Ensembl chr19:29,205,320...29,213,151
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CCBE1
collagen and calcium binding EGF domains 1
IAGP
HPO
MIM:235510
NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662
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FAT4
FAT atypical cadherin 4
IAGP
HPO
MIM:616006
NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
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C4A
complement C4A (Chido/Rodgers blood group)
IAGP
HPO
ORPHA:117
NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681
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CCR1
C-C motif chemokine receptor 1
IAGP
HPO
ORPHA:117
NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
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CTLA4
cytotoxic T-lymphocyte associated protein 4
IAGP
HPO
MIM:152700 ORPHA:900
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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DNASE1
deoxyribonuclease 1
IAGP
HPO
MIM:152700
NCBI chr16:3,611,760...3,665,461
Ensembl chr16:3,611,728...3,680,143
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DOCK11
dedicator of cytokinesis 11
IAGP
HPO
MIM:301109
NCBI chr X:118,495,815...118,686,147
Ensembl chr X:118,495,815...118,686,163
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ERAP1
endoplasmic reticulum aminopeptidase 1
IAGP
HPO
ORPHA:117
NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100
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FAS
Fas cell surface death receptor
IAGP
HPO
ORPHA:117
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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FCGR2A
Fc gamma receptor IIa
IAGP
HPO
MIM:152700
NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
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FCGR2B
Fc gamma receptor IIb
IAGP
HPO
MIM:152700
NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,143...161,678,654
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HBA1
hemoglobin subunit alpha 1
IAGP
HPO
ORPHA:163596
NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522
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HBA2
hemoglobin subunit alpha 2
IAGP
HPO
ORPHA:163596
NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710
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HLA-B
major histocompatibility complex, class I, B
IAGP
HPO
ORPHA:117 ORPHA:29207 ORPHA:397
NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
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HLA-DPA1
major histocompatibility complex, class II, DP alpha 1
IAGP
HPO
ORPHA:900
NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775
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HLA-DPB1
major histocompatibility complex, class II, DP beta 1
IAGP
HPO
ORPHA:900
NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696
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HLA-DRB1
major histocompatibility complex, class II, DR beta 1
IAGP
HPO
ORPHA:397 ORPHA:85414
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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IFNGR1
interferon gamma receptor 1
IAGP
HPO
ORPHA:117
NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449
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IL10
interleukin 10
IAGP
HPO
ORPHA:117
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL12A
interleukin 12A
IAGP
HPO
ORPHA:117
NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019
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IL12A-AS1
IL12A antisense RNA 1
IAGP
HPO
ORPHA:117
NCBI chr 3:159,913,400...160,207,092
Ensembl chr 3:159,902,045...160,226,966
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IL23R
interleukin 23 receptor
IAGP
HPO
ORPHA:117
NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979
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IL6
interleukin 6
IAGP
HPO
ORPHA:85414
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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IRF4
interferon regulatory factor 4
IAGP
HPO
ORPHA:3452
NCBI chr 6:391,752...411,443
Ensembl chr 6:391,739...411,443
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KLRC4
killer cell lectin like receptor C4
IAGP
HPO
ORPHA:117
NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,403,059...10,409,757
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LACC1
laccase domain containing 1
IAGP
HPO
ORPHA:85414
NCBI chr13:43,879,178...43,893,932
Ensembl chr13:43,879,284...43,893,932
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LCK
LCK proto-oncogene, Src family tyrosine kinase
IAGP
HPO
MIM:615758
NCBI chr 1:32,251,265...32,286,165
Ensembl chr 1:32,251,244...32,286,165
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LOC126861897
BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654
IAGP
ClinVar Annotator: match by term: Pericarditis
ClinVar
PMID:25741868
NCBI chr14:23,415,246...23,416,445
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MAF
MAF bZIP transcription factor
IAGP
HPO
MIM:601088 ORPHA:1272
NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737
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MEFV
MEFV innate immunity regulator, pyrin
IAGP
HPO
MIM:249100 ORPHA:117 ORPHA:342
NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
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MHRT
myosin heavy chain associated RNA transcript
IAGP
ClinVar Annotator: match by term: Pericarditis
ClinVar
PMID:25741868
NCBI chr14:23,415,450...23,417,595
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MIF
macrophage migration inhibitory factor
IAGP
HPO
ORPHA:85414
NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
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MYH7
myosin heavy chain 7
IAGP
ClinVar Annotator: match by term: Pericarditis
ClinVar
PMID:25741868
NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
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NOD2
nucleotide binding oligomerization domain containing 2
IAGP
HPO
MIM:186580 MIM:617321 ORPHA:90340
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
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P4HA2
prolyl 4-hydroxylase subunit alpha 2
IAGP
HPO
ORPHA:397
NCBI chr 5:132,190,147...132,227,853
Ensembl chr 5:132,190,147...132,295,315
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PMM2
phosphomannomutase 2
IAGP
HPO
MIM:212065 ORPHA:79318
NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534
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PRG4
proteoglycan 4
IAGP
HPO
ORPHA:2848
NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567
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PRTN3
proteinase 3
IAGP
HPO
ORPHA:900
NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175
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PTPN22
protein tyrosine phosphatase non-receptor type 22
IAGP
HPO
MIM:152700 ORPHA:397 ORPHA:900
NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
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RNU7-1
RNA, U7 small nuclear 1
IAGP
HPO
MIM:619487
NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878
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STAT4
signal transducer and activator of transcription 4
IAGP
HPO
ORPHA:117
NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
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TLR4
toll like receptor 4
IAGP
HPO
ORPHA:117
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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TNFRSF1A
TNF receptor superfamily member 1A
IAGP
HPO
ORPHA:32960
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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TREX1
three prime repair exonuclease 1
IAGP
HPO
MIM:152700
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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UBAC2
UBA domain containing 2
IAGP
HPO
ORPHA:117
NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504
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GATA6
GATA binding protein 6
IAGP
HPO
MIM:600001
NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
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