Term: Abnormal pulmonary thoracic imaging finding
Accession: HP:0031983
browse the term
Definition: This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density.
Synonyms: exact_synonym: Abnormal chest radiograph finding (lung)
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CYBB
cytochrome b-245 beta chain
IAGP
OMIM:306400
HPO
NCBI chr X:37,780,059...37,813,461
Ensembl chr X:37,780,018...37,813,461
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ABCA3
ATP binding cassette subfamily A member 3
IAGP
ORPHA:70587
HPO
NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
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ARVCF
ARVCF delta catenin family member
IAGP
ORPHA:567
HPO
NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
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ASAH1
N-acylsphingosine amidohydrolase 1
IAGP
ORPHA:333
HPO
NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
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B3GALT6
beta-1,3-galactosyltransferase 6
IAGP
ORPHA:536467
HPO
NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
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CCDC103
coiled-coil domain containing 103
IAGP
ORPHA:244
HPO
NCBI chr17:44,899,729...44,905,390
Ensembl chr17:44,899,142...44,905,390
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CCDC39
coiled-coil domain containing 39
IAGP
ORPHA:244
HPO
NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942
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CCDC40
coiled-coil domain containing 40
IAGP
ORPHA:244
HPO
NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613
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CCDC65
coiled-coil domain containing 65
IAGP
ORPHA:244
HPO
NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840
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CCNO
cyclin O
IAGP
OMIM:615872 ORPHA:244
HPO
NCBI chr 5:55,231,152...55,233,608
Ensembl chr 5:55,231,152...55,233,608
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CFAP221
cilia and flagella associated protein 221
IAGP
ORPHA:244
HPO
NCBI chr 2:119,544,449...119,660,323
Ensembl chr 2:119,544,432...119,662,251
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CFAP298
cilia and flagella associated protein 298
IAGP
ORPHA:244
HPO
NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603
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CFAP300
cilia and flagella associated protein 300
IAGP
ORPHA:244
HPO
NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554
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COMT
catechol-O-methyltransferase
IAGP
ORPHA:567
HPO
NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
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CXCR4
C-X-C motif chemokine receptor 4
IAGP
ORPHA:51636
HPO
NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
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CYBB
cytochrome b-245 beta chain
IAGP
OMIM:306400
HPO
NCBI chr X:37,780,059...37,813,461
Ensembl chr X:37,780,018...37,813,461
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DNAAF1
dynein axonemal assembly factor 1
IAGP
ORPHA:244
HPO
NCBI chr16:84,145,308...84,177,920
Ensembl chr16:84,145,287...84,178,767
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DNAAF11
dynein axonemal assembly factor 11
IAGP
ORPHA:244
HPO
NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592
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DNAAF2
dynein axonemal assembly factor 2
IAGP
ORPHA:244
HPO
NCBI chr14:49,625,174...49,635,244
Ensembl chr14:49,625,174...49,635,244
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DNAAF3
dynein axonemal assembly factor 3
IAGP
ORPHA:244
HPO
NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722
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DNAAF4
dynein axonemal assembly factor 4
IAGP
ORPHA:244
HPO
NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234
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DNAAF5
dynein axonemal assembly factor 5
IAGP
ORPHA:244
HPO
NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475
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DNAAF6
dynein axonemal assembly factor 6
IAGP
ORPHA:244
HPO
NCBI chr X:107,206,611...107,244,247
Ensembl chr X:107,206,611...107,244,247
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DNAH1
dynein axonemal heavy chain 1
IAGP
ORPHA:244
HPO
NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492
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DNAH11
dynein axonemal heavy chain 11
IAGP
ORPHA:244
HPO
NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839
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DNAH5
dynein axonemal heavy chain 5
IAGP
ORPHA:244
HPO
NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818
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DNAH9
dynein axonemal heavy chain 9
IAGP
ORPHA:244
HPO
NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748
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DNAI1
dynein axonemal intermediate chain 1
IAGP
ORPHA:244
HPO
NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988
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DNAI2
dynein axonemal intermediate chain 2
IAGP
ORPHA:244
HPO
NCBI chr17:74,274,234...74,314,884
Ensembl chr17:74,274,234...74,314,884
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DNAJB13
DnaJ heat shock protein family (Hsp40) member B13
IAGP
ORPHA:244
HPO
NCBI chr11:73,951,026...73,970,281
Ensembl chr11:73,951,026...73,970,366
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DNAL1
dynein axonemal light chain 1
IAGP
ORPHA:244
HPO
NCBI chr14:73,644,986...73,703,732
Ensembl chr14:73,644,875...73,703,732
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DRC1
dynein regulatory complex subunit 1
IAGP
OMIM:615294 ORPHA:244
HPO
NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711
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FOXJ1
forkhead box J1
IAGP
ORPHA:244
HPO
NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245
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GAS2L2
growth arrest specific 2 like 2
IAGP
ORPHA:244
HPO
NCBI chr17:35,744,511...35,753,239
Ensembl chr17:35,744,511...35,753,239
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GAS8
growth arrest specific 8
IAGP
OMIM:616726 ORPHA:244
HPO
NCBI chr16:90,019,633...90,044,960
Ensembl chr16:90,019,629...90,044,975
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GP1BB
glycoprotein Ib platelet subunit beta
IAGP
ORPHA:567
HPO
NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
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HIRA
histone cell cycle regulator
IAGP
ORPHA:567
HPO
NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
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HYDIN
HYDIN axonemal central pair apparatus protein
IAGP
ORPHA:244
HPO
NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722
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JMJD1C
jumonji domain containing 1C
IAGP
ORPHA:567
HPO
NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
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LAMA2
laminin subunit alpha 2
IAGP
ORPHA:258
HPO
NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566
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LRRC56
leucine rich repeat containing 56
IAGP
ORPHA:244
HPO
NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
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MCIDAS
multiciliate differentiation and DNA synthesis associated cell cycle protein
IAGP
ORPHA:244
HPO
NCBI chr 5:55,219,564...55,227,315
Ensembl chr 5:55,219,564...55,227,315
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NEK10
NIMA related kinase 10
IAGP
ORPHA:244
HPO
NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460
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NHLRC2
NHL repeat containing 2
IAGP
OMIM:618278
HPO
NCBI chr10:113,854,661...113,917,194
Ensembl chr10:113,854,661...113,917,194
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NKX2-1
NK2 homeobox 1
IAGP
OMIM:610978
HPO
NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
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NME8
NME/NM23 family member 8
IAGP
ORPHA:244
HPO
NCBI chr 7:37,848,597...37,900,397
Ensembl chr 7:37,848,597...37,900,397
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OCRL
OCRL inositol polyphosphate-5-phosphatase
IAGP
ORPHA:534
HPO
NCBI chr X:129,540,259...129,592,556
Ensembl chr X:129,539,849...129,592,561
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ODAD1
outer dynein arm docking complex subunit 1
IAGP
OMIM:615067 ORPHA:244
HPO
NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,457...48,321,971
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ODAD2
outer dynein arm docking complex subunit 2
IAGP
ORPHA:244
HPO
NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,079
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ODAD3
outer dynein arm docking complex subunit 3
IAGP
ORPHA:244
HPO
NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782
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ODAD4
outer dynein arm docking complex subunit 4
IAGP
ORPHA:244
HPO
NCBI chr17:41,930,617...41,966,503
Ensembl chr17:41,930,617...41,966,503
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OFD1
OFD1 centriole and centriolar satellite protein
IAGP
ORPHA:244
HPO
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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PAX3
paired box 3
IAGP
ORPHA:896
HPO
NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998
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PLEC
plectin
IAGP
ORPHA:254361
HPO
NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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RIPK4
receptor interacting serine/threonine kinase 4
IAGP
ORPHA:1401
HPO
NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
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RPGR
retinitis pigmentosa GTPase regulator
IAGP
OMIM:300455 ORPHA:244
HPO
NCBI chr X:38,269,163...38,327,509
Ensembl chr X:38,269,163...38,327,544
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RREB1
ras responsive element binding protein 1
IAGP
ORPHA:567
HPO
NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980
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RSPH1
radial spoke head component 1
IAGP
ORPHA:244
HPO
NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,246
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RSPH3
radial spoke head 3
IAGP
ORPHA:244
HPO
NCBI chr 6:158,962,980...159,000,202
Ensembl chr 6:158,972,871...159,000,202
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RSPH4A
radial spoke head component 4A
IAGP
ORPHA:244
HPO
NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985
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RSPH9
radial spoke head component 9
IAGP
ORPHA:244
HPO
NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,645,036...43,672,600
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SEC24C
SEC24 homolog C, COPII coat complex component
IAGP
ORPHA:567
HPO
NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161
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SFTPB
surfactant protein B
IAGP
ORPHA:70587
HPO
NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
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SFTPC
surfactant protein C
IAGP
ORPHA:70587
HPO
NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
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SPAG1
sperm associated antigen 1
IAGP
ORPHA:244
HPO
NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278
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SPEF2
sperm flagellar 2
IAGP
ORPHA:244
HPO
NCBI chr 5:35,617,863...35,814,611
Ensembl chr 5:35,617,844...35,814,611
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STAT3
signal transducer and activator of transcription 3
IAGP
ORPHA:2314
HPO
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540
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STK36
serine/threonine kinase 36
IAGP
ORPHA:244
HPO
NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,069...218,702,716
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TBX1
T-box transcription factor 1
IAGP
ORPHA:567
HPO
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
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TP73
tumor protein p73
IAGP
OMIM:619466
HPO
NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201
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TSC1
TSC complex subunit 1
IAGP
ORPHA:538
HPO
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
ORPHA:538
HPO
NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
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TTC12
tetratricopeptide repeat domain 12
IAGP
ORPHA:244
HPO
NCBI chr11:113,314,583...113,373,297
Ensembl chr11:113,314,579...113,383,544
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UFD1
ubiquitin recognition factor in ER associated degradation 1
IAGP
ORPHA:567
HPO
NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
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ZMYND10
zinc finger MYND-type containing 10
IAGP
ORPHA:244
HPO
NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732
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BMPR2
bone morphogenetic protein receptor type 2
IAGP
OMIM:265450
HPO
NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
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EIF2AK4
eukaryotic translation initiation factor 2 alpha kinase 4
IAGP
OMIM:234810 ORPHA:199241
HPO
NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
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COL3A1
collagen type III alpha 1 chain
IAGP
OMIM:130050
HPO
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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ABCA3
ATP binding cassette subfamily A member 3
IAGP
OMIM:610921
HPO
NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
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CSF2RA
colony stimulating factor 2 receptor subunit alpha
IAGP
ORPHA:264675
HPO
NCBI chr X:1,268,814...1,325,218 NCBI chr Y:1,268,814...1,325,218
Ensembl chr X:1,268,800...1,310,381
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CSF2RB
colony stimulating factor 2 receptor subunit beta
IAGP
ORPHA:264675
HPO
NCBI chr22:36,913,628...36,940,439
Ensembl chr22:36,913,628...36,940,439
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HLA-DRB1
major histocompatibility complex, class II, DR beta 1
IAGP
ORPHA:747
HPO
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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ABCA3
ATP binding cassette subfamily A member 3
IAGP
OMIM:610921
HPO
NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
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NKX2-1
NK2 homeobox 1
IAGP
OMIM:610978
HPO
NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
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SFTPC
surfactant protein C
IAGP
OMIM:610913
HPO
NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
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ASAH1
N-acylsphingosine amidohydrolase 1
IAGP
ORPHA:333
HPO
NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
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SMPD1
sphingomyelin phosphodiesterase 1
IAGP
OMIM:257200 OMIM:607616
HPO
NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998
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ABCA3
ATP binding cassette subfamily A member 3
IAGP
ORPHA:2032
HPO
NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
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ATP11A
ATPase phospholipid transporting 11A
IAGP
ORPHA:2032
HPO
NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168
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CSF2RA
colony stimulating factor 2 receptor subunit alpha
IAGP
OMIM:300770
HPO
NCBI chr X:1,268,814...1,325,218 NCBI chr Y:1,268,814...1,325,218
Ensembl chr X:1,268,800...1,310,381
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CSF2RB
colony stimulating factor 2 receptor subunit beta
IAGP
OMIM:614370
HPO
NCBI chr22:36,913,628...36,940,439
Ensembl chr22:36,913,628...36,940,439
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DPP9
dipeptidyl peptidase 9
IAGP
ORPHA:2032
HPO
NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673
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DSP
desmoplakin
IAGP
ORPHA:2032
HPO
NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
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FAM13A
family with sequence similarity 13 member A
IAGP
ORPHA:2032
HPO
NCBI chr 4:88,725,960...89,057,185
Ensembl chr 4:88,725,955...89,111,398
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HLA-DPB1
major histocompatibility complex, class II, DP beta 1
IAGP
ORPHA:133
HPO
NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696
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IFIH1
interferon induced with helicase C domain 1
IAGP
OMIM:619773
HPO
NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
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MUC5B
mucin 5B, oligomeric mucus/gel-forming
IAGP
ORPHA:2032
HPO
NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172
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NKX2-1
NK2 homeobox 1
IAGP
OMIM:610978
HPO
NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
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PARN
poly(A)-specific ribonuclease
IAGP
ORPHA:2032
HPO
NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
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RTEL1
regulator of telomere elongation helicase 1
IAGP
ORPHA:2032
HPO
NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
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SFTPA1
surfactant protein A1
IAGP
ORPHA:2032
HPO
NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
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SFTPA2
surfactant protein A2
IAGP
ORPHA:2032
HPO
NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407
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SFTPB
surfactant protein B
IAGP
OMIM:265120
HPO
NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
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SFTPC
surfactant protein C
IAGP
ORPHA:2032
HPO
NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
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SLC34A2
solute carrier family 34 member 2
IAGP
ORPHA:60025
HPO
NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
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STN1
STN1 subunit of CST complex
IAGP
ORPHA:2032
HPO
NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332
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TERC
telomerase RNA component
IAGP
ORPHA:2032
HPO
NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047 Ensembl chr 3:169,764,610...169,765,047
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TERT
telomerase reverse transcriptase
IAGP
ORPHA:2032
HPO
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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BMPR2
bone morphogenetic protein receptor type 2
IAGP
OMIM:265450
HPO
NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
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CSF2RB
colony stimulating factor 2 receptor subunit beta
IAGP
OMIM:614370
HPO
NCBI chr22:36,913,628...36,940,439
Ensembl chr22:36,913,628...36,940,439
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EIF2AK4
eukaryotic translation initiation factor 2 alpha kinase 4
IAGP
ORPHA:199241
HPO
NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
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SFTPA1
surfactant protein A1
IAGP
OMIM:619611
HPO
NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
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SFTPB
surfactant protein B
IAGP
OMIM:265120
HPO
NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
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SLC34A2
solute carrier family 34 member 2
IAGP
ORPHA:60025
HPO
NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
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SFTPA1
surfactant protein A1
IAGP
OMIM:619611
HPO
NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
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SFTPC
surfactant protein C
IAGP
OMIM:610913
HPO
NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
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KIF1B
kinesin family member 1B
IAGP
OMIM:256700
HPO
NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
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ABCA3
ATP binding cassette subfamily A member 3
IAGP
OMIM:610921
HPO
NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
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ASAH1
N-acylsphingosine amidohydrolase 1
IAGP
ORPHA:333
HPO
NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
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COL3A1
collagen type III alpha 1 chain
IAGP
OMIM:130050
HPO
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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B2M
beta-2-microglobulin
IAGP
OMIM:241600
HPO
NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
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NKX2-1
NK2 homeobox 1
IAGP
OMIM:610978
HPO
NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
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APOE
apolipoprotein E
IAGP
ORPHA:158029
HPO
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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BACH2
BTB domain and CNC homolog 2
IAGP
OMIM:618394
HPO
NCBI chr 6:89,926,528...90,296,843
Ensembl chr 6:89,926,528...90,296,843
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BCL10
BCL10 immune signaling adaptor
IAGP
ORPHA:52417
HPO
NCBI chr 1:85,265,776...85,276,632
Ensembl chr 1:85,265,776...85,276,632
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BCL11A
BCL11 transcription factor A
IAGP
ORPHA:251380
HPO
NCBI chr 2:60,450,520...60,553,654
Ensembl chr 2:60,450,520...60,554,467
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BIRC3
baculoviral IAP repeat containing 3
IAGP
ORPHA:52417
HPO
NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,450...102,339,403
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BTNL2
butyrophilin like 2
IAGP
OMIM:612387
HPO
NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181
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C4A
complement C4A (Rodgers blood group)
IAGP
ORPHA:117
HPO
NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681
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CASP10
caspase 10
IAGP
ORPHA:3261
HPO
NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428
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CAV1
caveolin 1
IAGP
ORPHA:220393
HPO
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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CCN2
cellular communication network factor 2
IAGP
ORPHA:220393
HPO
NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
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CCR1
C-C motif chemokine receptor 1
IAGP
ORPHA:117
HPO
NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
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CCR6
C-C motif chemokine receptor 6
IAGP
ORPHA:220393
HPO
NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141
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CTLA4
cytotoxic T-lymphocyte associated protein 4
IAGP
ORPHA:900
HPO
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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DOCK2
dedicator of cytokinesis 2
IAGP
OMIM:616433
HPO
NCBI chr 5:169,637,275...170,083,382
Ensembl chr 5:169,637,268...170,083,382
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ERAP1
endoplasmic reticulum aminopeptidase 1
IAGP
ORPHA:117
HPO
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
ORPHA:117 ORPHA:3261
HPO
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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FASLG
Fas ligand
IAGP
ORPHA:3261
HPO
NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
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FOXP1
forkhead box P1
IAGP
ORPHA:52417
HPO
NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978
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GBA1
glucosylceramidase beta 1
IAGP
OMIM:230800
HPO
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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HBB
hemoglobin subunit beta
IAGP
ORPHA:251380
HPO
NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
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HBG1
hemoglobin subunit gamma 1
IAGP
ORPHA:251380
HPO
NCBI chr11:5,248,269...5,249,857
Ensembl chr11:5,248,269...5,249,857
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HBG2
hemoglobin subunit gamma 2
IAGP
ORPHA:251380
HPO
NCBI chr11:5,253,188...5,254,781
Ensembl chr11:5,253,188...5,505,605
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HLA-B
major histocompatibility complex, class I, B
IAGP
ORPHA:117
HPO
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
ORPHA:900
HPO
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
ORPHA:900
HPO
NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696
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HLA-DRB1
major histocompatibility complex, class II, DR beta 1
IAGP
OMIM:181000
HPO
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
OMIM:209950
HPO
NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449
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IGH
immunoglobulin heavy locus
IAGP
ORPHA:52417
HPO
NCBI chr14:105,586,437...106,879,844
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IL10
interleukin 10
IAGP
ORPHA:117
HPO
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
ORPHA:117
HPO
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
ORPHA:117
HPO
NCBI chr 3:159,913,400...160,207,092
Ensembl chr 3:159,902,045...160,225,299
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IL23R
interleukin 23 receptor
IAGP
ORPHA:117
HPO
NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979
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IL2RA
interleukin 2 receptor subunit alpha
IAGP
OMIM:606367
HPO
NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
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IRF5
interferon regulatory factor 5
IAGP
ORPHA:220393
HPO
NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
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KLF1
KLF transcription factor 1
IAGP
ORPHA:251380
HPO
NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201
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KLRC4
killer cell lectin like receptor C4
IAGP
ORPHA:117
HPO
NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,407,384...10,409,757
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LPIN2
lipin 2
IAGP
ORPHA:77297
HPO
NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144
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MALT1
MALT1 paracaspase
IAGP
ORPHA:52417
HPO
NCBI chr18:58,671,465...58,754,477
Ensembl chr18:58,671,465...58,754,477
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MEFV
MEFV innate immunity regulator, pyrin
IAGP
ORPHA:117
HPO
NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
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MYD88
MYD88 innate immune signal transduction adaptor
IAGP
ORPHA:33226
HPO
NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,478...38,143,024
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NKX2-1
NK2 homeobox 1
IAGP
OMIM:610978
HPO
NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
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PDGFRA
platelet derived growth factor receptor alpha
IAGP
OMIM:607685
HPO
NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
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PRIM1
DNA primase subunit 1
IAGP
OMIM:620005
HPO
NCBI chr12:56,731,580...56,752,323
Ensembl chr12:56,731,296...56,752,374
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PRKCD
protein kinase C delta
IAGP
ORPHA:3261
HPO
NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
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PRTN3
proteinase 3
IAGP
ORPHA:900
HPO
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
ORPHA:900
HPO
NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
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RAB27A
RAB27A, member RAS oncogene family
IAGP
ORPHA:79477
HPO
NCBI chr15:55,202,966...55,289,813
Ensembl chr15:55,202,966...55,319,113
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RASGRP1
RAS guanyl releasing protein 1
IAGP
ORPHA:3261
HPO
NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575
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SFTPB
surfactant protein B
IAGP
ORPHA:217563
HPO
NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
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SLC34A2
solute carrier family 34 member 2
IAGP
ORPHA:60025
HPO
NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
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SLC41A1
solute carrier family 41 member 1
IAGP
OMIM:619468
HPO
NCBI chr 1:205,789,095...205,813,198
Ensembl chr 1:205,789,094...205,813,748
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STAT4
signal transducer and activator of transcription 4
IAGP
ORPHA:117
HPO
NCBI chr 2:191,029,576...191,246,175
Ensembl chr 2:191,029,576...191,151,596
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TLR4
toll like receptor 4
IAGP
ORPHA:117
HPO
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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TSC1
TSC complex subunit 1
IAGP
ORPHA:538
HPO
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
ORPHA:538
HPO
NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
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UBA1
ubiquitin like modifier activating enzyme 1
IAGP
OMIM:301054
HPO
NCBI chr X:47,190,847...47,215,128
Ensembl chr X:47,190,861...47,215,128
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UBAC2
UBA domain containing 2
IAGP
ORPHA:117
HPO
NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504
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SLC11A1
solute carrier family 11 member 1
IAGP
DNA:repeat, polymorphism:promoter, intron:
RGD
PMID:17876529
RGD:5684940
NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
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STAT1
signal transducer and activator of transcription 1
IAGP
OMIM:614162
HPO
NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
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SFTPB
surfactant protein B
IAGP
ORPHA:217563
HPO
NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
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ABCA3
ATP binding cassette subfamily A member 3
IAGP
ORPHA:2032
HPO
NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
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ATP11A
ATPase phospholipid transporting 11A
IAGP
ORPHA:2032
HPO
NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168
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DPP9
dipeptidyl peptidase 9
IAGP
ORPHA:2032
HPO
NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673
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DSP
desmoplakin
IAGP
ORPHA:2032
HPO
NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
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FAM13A
family with sequence similarity 13 member A
IAGP
ORPHA:2032
HPO
NCBI chr 4:88,725,960...89,057,185
Ensembl chr 4:88,725,955...89,111,398
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MUC5B
mucin 5B, oligomeric mucus/gel-forming
IAGP
ORPHA:2032
HPO
NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172
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PARN
poly(A)-specific ribonuclease
IAGP
ORPHA:2032
HPO
NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
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RTEL1
regulator of telomere elongation helicase 1
IAGP
ORPHA:2032
HPO
NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
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SFTPA1
surfactant protein A1
IAGP
ORPHA:2032
HPO
NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
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SFTPA2
surfactant protein A2
IAGP
ORPHA:2032
HPO
NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407
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SFTPC
surfactant protein C
IAGP
ORPHA:2032
HPO
NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
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STN1
STN1 subunit of CST complex
IAGP
ORPHA:2032
HPO
NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332
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TERC
telomerase RNA component
IAGP
ORPHA:2032
HPO
NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047 Ensembl chr 3:169,764,610...169,765,047
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TERT
telomerase reverse transcriptase
IAGP
OMIM:614742
HPO
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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HLA-DPB1
major histocompatibility complex, class II, DP beta 1
IAGP
ORPHA:133
HPO
NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696
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