Term: | Abnormal pulmonary interstitial morphology |
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Accession: | HP:0006530
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browse the term
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Definition: | Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. |
Synonyms: | exact_synonym: | Abnormal lung parenchyma morphology; Abnormality in area between air sacs in lung; Interstitial lung disease; Interstitial pulmonary disease |
| alt_id: | HP:0006513; HP:0006547 |
| xref: | EFO:0004244; MESH:D017563; SNOMEDCT_US:233703007; UMLS:C0206062 |
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ABCA3 |
ATP binding cassette subfamily A member 3 |
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IAGP |
ClinVar Annotator: match by term: Interstitial lung disease |
ClinVar HPO |
PMID:25741868 |
ORPHA:2032 |
NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
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AGR2 |
anterior gradient 2, protein disulphide isomerase family member |
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IAGP |
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HPO |
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OMIM:620233 |
NCBI chr 7:16,791,811...16,804,999
Ensembl chr 7:16,791,811...16,833,433
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AP3D1 |
adaptor related protein complex 3 subunit delta 1 |
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IAGP |
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HPO |
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OMIM:617050 |
NCBI chr19:2,100,988...2,164,616
Ensembl chr19:2,100,988...2,164,468
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ATP11A |
ATPase phospholipid transporting 11A |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168
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BTNL2 |
butyrophilin like 2 |
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IAGP |
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HPO |
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OMIM:612387 |
NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181
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COPA |
COPI coat complex subunit alpha |
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IAGP |
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HPO |
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OMIM:616414 |
NCBI chr 1:160,288,594...160,343,250
Ensembl chr 1:160,288,594...160,343,566
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DES |
desmin |
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IAGP |
ClinVar Annotator: match by term: Interstitial lung disease |
ClinVar |
PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 PMID:28341588 PMID:28492532 PMID:30755392 PMID:32268277 PMID:32403337 More...
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NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735
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DPP9 |
dipeptidyl peptidase 9 |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673
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DSP |
desmoplakin |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714
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ERF |
ETS2 repressor factor |
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IAGP |
ClinVar Annotator: match by term: Interstitial lung disease |
ClinVar HPO |
PMID:25741868 |
OMIM:617180 |
NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128
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FAM13A |
family with sequence similarity 13 member A |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr 4:88,725,960...89,057,185
Ensembl chr 4:88,725,955...89,111,398
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FARSA |
phenylalanyl-tRNA synthetase subunit alpha |
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IAGP |
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HPO |
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OMIM:619013 |
NCBI chr19:12,922,479...12,933,711
Ensembl chr19:12,922,479...12,934,037
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FARSB |
phenylalanyl-tRNA synthetase subunit beta |
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IAGP |
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HPO |
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OMIM:613658 |
NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092
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GATA4 |
GATA binding protein 4 |
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IAGP |
ClinVar Annotator: match by term: Interstitial lung disease |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30755392 |
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NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
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GBA1 |
glucosylceramidase beta 1 |
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IAGP |
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HPO |
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OMIM:230800 ORPHA:2072 ORPHA:77259 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 |
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IAGP |
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HPO |
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OMIM:181000 |
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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INPP5E |
inositol polyphosphate-5-phosphatase E |
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IAGP |
ClinVar Annotator: match by term: Interstitial lung disease |
ClinVar |
PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 PMID:28492532 PMID:29186038 PMID:33749171 PMID:34188062 More...
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NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845
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ITGA3 |
integrin subunit alpha 3 |
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IAGP |
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HPO |
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OMIM:614748 |
NCBI chr17:50,056,110...50,090,481
Ensembl chr17:50,055,968...50,090,481
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LOC110806263 |
TERT 5' regulatory region |
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IAGP |
ClinVar Annotator: match by term: Interstitial lung disease |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31268371 |
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NCBI chr 5:1,294,628...1,298,988
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LRRK2 |
leucine rich repeat kinase 2 |
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IAGP |
ClinVar Annotator: match by term: Interstitial pulmonary disease |
ClinVar |
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NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285
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MARS1 |
methionyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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OMIM:615486 ORPHA:401835 |
NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569
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MUC5B |
mucin 5B, oligomeric mucus/gel-forming |
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IAGP |
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HPO |
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ORPHA:2032 |
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 |
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IAGP |
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HPO |
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ORPHA:209905 |
NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
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PADI4 |
peptidyl arginine deiminase 4 |
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IAGP |
ClinVar Annotator: match by term: Interstitial lung disease |
ClinVar |
PMID:25741868 |
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NCBI chr 1:17,308,197...17,364,004
Ensembl chr 1:17,308,195...17,364,004
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PAK2 |
p21 (RAC1) activated kinase 2 |
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IAGP |
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HPO |
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OMIM:618458 |
NCBI chr 3:196,739,857...196,832,647
Ensembl chr 3:196,739,857...196,832,647
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PARN |
poly(A)-specific ribonuclease |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
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RNF168 |
ring finger protein 168 |
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IAGP |
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HPO |
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ORPHA:420741 |
NCBI chr 3:196,468,783...196,503,768
Ensembl chr 3:196,468,783...196,503,768
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RTEL1 |
regulator of telomere elongation helicase 1 |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
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SCARB2 |
scavenger receptor class B member 2 |
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IAGP |
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HPO |
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ORPHA:77259 |
NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536
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SFTPA1 |
surfactant protein A1 |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
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SFTPA2 |
surfactant protein A2 |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407
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SFTPB |
surfactant protein B |
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IAGP |
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HPO |
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ORPHA:217563 |
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 |
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IAGP |
ClinVar Annotator: match by term: Interstitial lung disease |
HPO ClinVar |
PMID:25741868 |
ORPHA:2032 |
NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
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SMPD1 |
sphingomyelin phosphodiesterase 1 |
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IAGP |
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HPO |
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OMIM:607616 ORPHA:77293 |
NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998
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STN1 |
STN1 subunit of CST complex |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332
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STXBP2 |
syntaxin binding protein 2 |
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IAGP |
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HPO |
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OMIM:613101 |
NCBI chr19:7,629,793...7,647,873
Ensembl chr19:7,636,772...7,647,873
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TERC |
telomerase RNA component |
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IAGP |
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HPO |
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ORPHA:2032 |
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 |
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IAGP |
ClinVar Annotator: match by term: Interstitial lung disease |
ClinVar HPO |
PMID:25741868 PMID:28099038 PMID:28492532 PMID:31268371 PMID:33035329 |
ORPHA:2032 |
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TINF2 |
TERF1 interacting nuclear factor 2 |
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IAGP |
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HPO |
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OMIM:613990 |
NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
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TNFRSF13B |
TNF receptor superfamily member 13B |
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IAGP |
ClinVar Annotator: match by term: Interstitial lung disease |
ClinVar |
PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17492055 PMID:17983875 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19629655 PMID:19779048 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22983507 PMID:23237420 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25326637 PMID:25741868 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27379089 PMID:27577878 PMID:28492532 PMID:29114388 PMID:29146883 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30665703 PMID:30723478 PMID:31203817 PMID:31618753 PMID:31681265 PMID:32499645 PMID:32581362 PMID:33258288 More...
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NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
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VANGL1 |
VANGL planar cell polarity protein 1 |
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IAGP |
ClinVar Annotator: match by term: Interstitial lung disease |
ClinVar |
PMID:25741868 |
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NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224
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ZNFX1 |
zinc finger NFX1-type containing 1 |
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IAGP |
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HPO |
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OMIM:619644 |
NCBI chr20:49,245,900...49,278,057
Ensembl chr20:49,237,946...49,278,426
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GSTM1 |
glutathione S-transferase mu 1 |
susceptibility |
IAGP |
DNA:missense mutation:cds:p.K173N |
RGD |
PMID:15135176 |
RGD:12798510 |
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
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BTK |
Bruton tyrosine kinase |
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IAGP |
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HPO |
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OMIM:300755 |
NCBI chr X:101,349,450...101,390,796
Ensembl chr X:101,349,338...101,390,796
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NSMCE3 |
NSE3 homolog, SMC5-SMC6 complex component |
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IAGP |
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HPO |
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OMIM:617241 |
NCBI chr15:29,264,989...29,269,822
Ensembl chr15:29,264,989...29,269,822
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PIK3CG |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
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IAGP |
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HPO |
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OMIM:619802 |
NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
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UNC119 |
unc-119 lipid binding chaperone |
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IAGP |
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HPO |
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OMIM:615518 |
NCBI chr17:28,546,707...28,552,628
Ensembl chr17:28,546,708...28,552,631
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ABCA3 |
ATP binding cassette subfamily A member 3 |
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IAGP |
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HPO |
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OMIM:610921 |
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 |
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IAGP |
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HPO |
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ORPHA:264675 |
NCBI chr X:1,268,814...1,325,218 NCBI chr Y:1,268,814...1,325,218
Ensembl chr Y:1,268,800...1,310,381 Ensembl chr X:1,268,800...1,310,381
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CSF2RB |
colony stimulating factor 2 receptor subunit beta |
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IAGP |
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HPO |
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ORPHA:264675 |
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 |
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IAGP |
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HPO |
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ORPHA:747 |
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 |
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IAGP |
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HPO |
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OMIM:610921 |
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 |
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IAGP |
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HPO |
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OMIM:610978 |
NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
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SFTPC |
surfactant protein C |
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IAGP |
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HPO |
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OMIM:610913 |
NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
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ABCA3 |
ATP binding cassette subfamily A member 3 |
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IAGP |
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HPO |
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OMIM:610921 |
NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
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SFTPB |
surfactant protein B |
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IAGP |
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HPO |
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OMIM:265120 |
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 |
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IAGP |
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HPO |
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OMIM:610913 |
NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
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STAT3 |
signal transducer and activator of transcription 3 |
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IAGP |
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HPO |
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OMIM:615952 |
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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ABCA3 |
ATP binding cassette subfamily A member 3 |
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IAGP |
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HPO |
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OMIM:610921 ORPHA:2032 |
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 |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168
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DPP9 |
dipeptidyl peptidase 9 |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673
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DSP |
desmoplakin |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714
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FAM13A |
family with sequence similarity 13 member A |
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IAGP |
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HPO |
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ORPHA:2032 |
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 |
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IAGP |
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HPO |
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ORPHA:2032 |
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 |
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IAGP |
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HPO |
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OMIM:616371 ORPHA:2032 |
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 |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
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SFTPA1 |
surfactant protein A1 |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
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SFTPA2 |
surfactant protein A2 |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407
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SFTPC |
surfactant protein C |
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IAGP |
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HPO |
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ORPHA:2032 |
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 |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332
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TERC |
telomerase RNA component |
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IAGP |
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HPO |
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ORPHA:2032 |
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 |
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IAGP |
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HPO |
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ORPHA:2032 |
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 |
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IAGP |
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HPO |
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ORPHA:133 |
NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696
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BMPR2 |
bone morphogenetic protein receptor type 2 |
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IAGP |
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HPO |
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OMIM:265450 |
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 |
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IAGP |
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HPO |
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OMIM:614370 |
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 |
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IAGP |
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HPO |
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ORPHA:199241 |
NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
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SFTPA1 |
surfactant protein A1 |
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IAGP |
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HPO |
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OMIM:619611 |
NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
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SFTPB |
surfactant protein B |
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IAGP |
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HPO |
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OMIM:265120 |
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 |
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IAGP |
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HPO |
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ORPHA:60025 |
NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
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DOCK2 |
dedicator of cytokinesis 2 |
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IAGP |
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HPO |
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OMIM:616433 |
NCBI chr 5:169,637,275...170,083,382
Ensembl chr 5:169,637,268...170,083,382
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ENG |
endoglin |
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IAGP |
ClinVar Annotator: match by term: Interstitial pneumonitis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,815,013...127,854,658
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FARSB |
phenylalanyl-tRNA synthetase subunit beta |
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IAGP |
ClinVar Annotator: match by term: Interstitial pneumonitis |
ClinVar |
PMID:29979980 |
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NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092
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FOXP3 |
forkhead box P3 |
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IAGP |
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HPO |
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ORPHA:37042 |
NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800
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HCK |
HCK proto-oncogene, Src family tyrosine kinase |
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IAGP |
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HPO |
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OMIM:620296 |
NCBI chr20:32,052,242...32,101,856
Ensembl chr20:32,052,197...32,101,856
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IDUA |
alpha-L-iduronidase |
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IAGP |
ClinVar Annotator: match by term: Interstitial pneumonitis |
ClinVar |
PMID:1301941 PMID:1505961 PMID:7951228 PMID:8401515 PMID:9427149 PMID:9787109 PMID:10215409 PMID:11159948 PMID:11735025 PMID:18796143 PMID:19396826 PMID:21394825 PMID:21480867 PMID:21831683 PMID:22976768 PMID:23786846 PMID:24033266 PMID:24314423 PMID:24368159 PMID:25741868 PMID:28492532 PMID:28752568 PMID:29393969 More...
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NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564
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PLCG2 |
phospholipase C gamma 2 |
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IAGP |
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HPO |
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OMIM:614878 |
NCBI chr16:81,779,291...81,962,685
Ensembl chr16:81,779,279...81,962,685
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RAG1 |
recombination activating 1 |
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IAGP |
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HPO |
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ORPHA:231154 |
NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156
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SFTPB |
surfactant protein B |
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IAGP |
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HPO |
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ORPHA:217563 |
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 |
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IAGP |
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HPO |
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OMIM:610913 |
NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
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SLC26A1 |
solute carrier family 26 member 1 |
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IAGP |
ClinVar Annotator: match by term: Interstitial pneumonitis |
ClinVar |
PMID:1301941 PMID:1505961 PMID:7951228 PMID:8401515 PMID:9427149 PMID:9787109 PMID:10215409 PMID:11159948 PMID:11735025 PMID:18796143 PMID:19396826 PMID:21394825 PMID:21480867 PMID:21831683 PMID:22976768 PMID:23786846 PMID:24033266 PMID:24314423 PMID:24368159 PMID:25741868 PMID:28492532 PMID:28752568 PMID:29393969 More...
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NCBI chr 4:978,991...993,404
Ensembl chr 4:979,073...993,440
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SMPD1 |
sphingomyelin phosphodiesterase 1 |
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IAGP |
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HPO |
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ORPHA:77293 |
NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998
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STAT3 |
signal transducer and activator of transcription 3 |
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IAGP |
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HPO |
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OMIM:615952 |
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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TERC |
telomerase RNA component |
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IAGP |
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HPO |
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OMIM:127550 |
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 |
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IAGP |
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HPO |
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OMIM:127550 |
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TINF2 |
TERF1 interacting nuclear factor 2 |
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IAGP |
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HPO |
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OMIM:127550 |
NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
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SFTPA1 |
surfactant protein A1 |
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IAGP |
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HPO |
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OMIM:619611 |
NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
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SFTPC |
surfactant protein C |
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IAGP |
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HPO |
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OMIM:610913 |
NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
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DNAJB4 |
DnaJ heat shock protein family (Hsp40) member B4 |
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IAGP |
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HPO |
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OMIM:620326 |
NCBI chr 1:77,979,175...78,017,964
Ensembl chr 1:77,979,175...78,017,964
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HLA-DPB1 |
major histocompatibility complex, class II, DP beta 1 |
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IAGP |
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HPO |
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ORPHA:133 |
NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696
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IL2RB |
interleukin 2 receptor subunit beta |
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IAGP |
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HPO |
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OMIM:618495 |
NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118
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STAT5B |
signal transducer and activator of transcription 5B |
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IAGP |
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HPO |
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OMIM:245590 |
NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633
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ABCA3 |
ATP binding cassette subfamily A member 3 |
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IAGP |
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HPO |
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OMIM:610921 |
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 |
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IAGP |
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HPO |
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ORPHA:333 |
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 |
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IAGP |
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HPO |
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OMIM:130050 |
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 |
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IAGP |
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HPO |
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OMIM:610921 |
NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
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SFTPA1 |
surfactant protein A1 |
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IAGP |
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HPO |
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OMIM:619611 |
NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
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SFTPC |
surfactant protein C |
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IAGP |
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HPO |
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OMIM:610913 |
NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
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CCDC103 |
coiled-coil domain containing 103 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr17:44,899,729...44,905,390
Ensembl chr17:44,899,142...44,905,390
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CCDC39 |
coiled-coil domain 39 molecular ruler complex subunit |
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IAGP |
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HPO |
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ORPHA:244 |
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 40 molecular ruler complex subunit |
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IAGP |
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HPO |
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ORPHA:244 |
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 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840
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CCNO |
cyclin O |
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IAGP |
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HPO |
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ORPHA:244 |
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 |
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IAGP |
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HPO |
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ORPHA:244 |
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 |
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IAGP |
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HPO |
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ORPHA:244 |
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 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554
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CFAP74 |
cilia and flagella associated protein 74 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837
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DNAAF1 |
dynein axonemal assembly factor 1 |
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IAGP |
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HPO |
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ORPHA:244 |
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 |
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IAGP |
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HPO |
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ORPHA:244 |
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 |
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IAGP |
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HPO |
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ORPHA:244 |
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 |
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IAGP |
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HPO |
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ORPHA:244 |
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 |
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IAGP |
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HPO |
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ORPHA:244 |
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 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475
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DNAAF6 |
dynein axonemal assembly factor 6 |
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IAGP |
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HPO |
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ORPHA:244 |
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 |
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IAGP |
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HPO |
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ORPHA:244 |
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 |
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IAGP |
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HPO |
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ORPHA:244 |
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 |
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IAGP |
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HPO |
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ORPHA:244 |
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 |
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IAGP |
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HPO |
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ORPHA:244 |
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 |
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IAGP |
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HPO |
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ORPHA:244 |
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 |
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IAGP |
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HPO |
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ORPHA:244 |
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 |
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IAGP |
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HPO |
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ORPHA:244 |
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 |
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IAGP |
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HPO |
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ORPHA:244 |
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 |
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IAGP |
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HPO |
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ORPHA:244 |
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 |
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IAGP |
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HPO |
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ORPHA:244 |
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 |
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IAGP |
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HPO |
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ORPHA:244 |
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 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr16:90,019,633...90,044,960
Ensembl chr16:90,019,629...90,044,975
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HYDIN |
HYDIN axonemal central pair apparatus protein |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722
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LRRC56 |
leucine rich repeat containing 56 |
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IAGP |
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HPO |
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ORPHA:244 |
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 |
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IAGP |
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HPO |
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ORPHA:244 |
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 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460
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NME5 |
NME/NM23 family member 5 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 5:138,115,175...138,139,428
Ensembl chr 5:138,115,175...138,139,443
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NME8 |
NME/NM23 family member 8 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 7:37,848,597...37,900,397
Ensembl chr 7:37,848,597...37,900,397
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ODAD1 |
outer dynein arm docking complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:244 |
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 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,079
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G |
ODAD3 |
outer dynein arm docking complex subunit 3 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782
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G |
ODAD4 |
outer dynein arm docking complex subunit 4 |
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IAGP |
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HPO |
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ORPHA:244 |
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 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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RPGR |
retinitis pigmentosa GTPase regulator |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr X:38,269,163...38,327,509
Ensembl chr X:38,269,163...38,327,544
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G |
RSPH1 |
radial spoke head component 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,246
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G |
RSPH3 |
radial spoke head 3 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 6:158,962,980...159,000,202
Ensembl chr 6:158,972,871...159,000,202
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G |
RSPH4A |
radial spoke head component 4A |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985
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G |
RSPH9 |
radial spoke head component 9 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,645,036...43,672,600
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G |
SPAG1 |
sperm associated antigen 1 |
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IAGP |
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HPO |
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ORPHA:244 |
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 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 5:35,617,863...35,814,611
Ensembl chr 5:35,617,844...35,814,611
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G |
STK36 |
serine/threonine kinase 36 |
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IAGP |
|
HPO |
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ORPHA:244 |
NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,069...218,702,716
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G |
TTC12 |
tetratricopeptide repeat domain 12 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr11:113,314,583...113,373,297
Ensembl chr11:113,314,579...113,383,544
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ZMYND10 |
zinc finger MYND-type containing 10 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732
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G |
ABCA3 |
ATP binding cassette subfamily A member 3 |
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IAGP |
|
HPO |
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OMIM:610921 ORPHA:2032 |
NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
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G |
AP3B1 |
adaptor related protein complex 3 subunit beta 1 |
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IAGP |
|
HPO |
|
OMIM:608233 |
NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:78,000,522...78,294,762
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G |
ATP11A |
ATPase phospholipid transporting 11A |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168
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G |
BACH2 |
BTB domain and CNC homolog 2 |
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IAGP |
|
HPO |
|
OMIM:618394 |
NCBI chr 6:89,926,528...90,296,843
Ensembl chr 6:89,926,528...90,296,843
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G |
BMP15 |
bone morphogenetic protein 15 |
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IAGP |
|
HPO |
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ORPHA:243 |
NCBI chr X:50,910,735...50,916,641
Ensembl chr X:50,910,735...50,916,641
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G |
BNC1 |
basonuclin zinc finger protein 1 |
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IAGP |
|
HPO |
|
ORPHA:243 |
NCBI chr15:83,255,884...83,284,664
Ensembl chr15:83,255,884...83,284,664
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G |
BRD9 |
bromodomain containing 9 |
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IAGP |
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 5:863,741...892,801
Ensembl chr 5:850,291...892,801
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BTNL2 |
butyrophilin like 2 |
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IAGP |
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HPO |
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OMIM:612387 ORPHA:797 |
NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181
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CASP10 |
caspase 10 |
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IAGP |
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HPO |
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ORPHA:3261 |
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 |
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IAGP |
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HPO |
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ORPHA:220393 ORPHA:220402 |
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 |
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IAGP |
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HPO |
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ORPHA:220393 ORPHA:220402 |
NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
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CCR6 |
C-C motif chemokine receptor 6 |
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IAGP |
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HPO |
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ORPHA:220393 ORPHA:220402 |
NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141
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CEP72 |
centrosomal protein 72 |
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IAGP |
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 5:612,340...676,616
Ensembl chr 5:612,340...667,168
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CLPTM1L |
CLPTM1 like |
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IAGP |
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 5:1,317,752...1,345,099
Ensembl chr 5:1,317,752...1,345,099
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CTC1 |
CST telomere replication complex component 1 |
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IAGP |
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HPO |
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OMIM:612199 |
NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058
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CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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CYBC1 |
cytochrome b-245 chaperone 1 |
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IAGP |
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HPO |
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OMIM:618935 |
NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829
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DKC1 |
dyskerin pseudouridine synthase 1 |
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IAGP |
ClinVar Annotator: match by term: Pulmonary fibrosis |
ClinVar HPO |
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OMIM:305000 |
NCBI chr X:154,762,864...154,777,689
Ensembl chr X:154,762,742...154,777,689
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DPP9 |
dipeptidyl peptidase 9 |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673
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DSP |
desmoplakin |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714
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EHHADH |
enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase |
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IAGP |
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HPO |
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ORPHA:3337 |
NCBI chr 3:185,190,624...185,254,049
Ensembl chr 3:185,190,624...185,281,990
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FAM111B |
FAM111 trypsin like peptidase B |
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IAGP |
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HPO |
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OMIM:615704 |
NCBI chr11:59,107,237...59,127,412
Ensembl chr11:59,107,185...59,127,412
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FAM13A |
family with sequence similarity 13 member A |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr 4:88,725,960...89,057,185
Ensembl chr 4:88,725,955...89,111,398
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FAS |
Fas cell surface death receptor |
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IAGP |
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HPO |
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ORPHA:3261 |
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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FASLG |
Fas ligand |
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IAGP |
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HPO |
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ORPHA:3261 |
NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
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FSHR |
follicle stimulating hormone receptor |
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IAGP |
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HPO |
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ORPHA:243 |
NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527
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GATM |
glycine amidinotransferase |
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IAGP |
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HPO |
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ORPHA:3337 |
NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327
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GBA1 |
glucosylceramidase beta 1 |
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IAGP |
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HPO |
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ORPHA:2072 |
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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GSTM1 |
glutathione S-transferase mu 1 |
susceptibility severity no_association |
IAGP |
DNA:missense mutation:cds:p.K173N DNA:deletion: : |
RGD |
PMID:15135176 PMID:10195071 PMID:20140303 |
RGD:12798510, RGD:12798506, RGD:12792246 |
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
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HLA-A |
major histocompatibility complex, class I, A |
susceptibility |
IAGP |
DNA:polymorphism: HLA-A30 |
RGD |
PMID:24167351 |
RGD:329961313 |
NCBI chr 6:29,942,532...29,945,870
Ensembl chr 6:29,941,260...29,949,572
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HLA-B |
major histocompatibility complex, class I, B |
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IAGP |
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HPO |
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ORPHA:29207 |
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 |
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IAGP |
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HPO |
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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 |
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IAGP |
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HPO |
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ORPHA:133 ORPHA:900 |
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 |
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IAGP |
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HPO |
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OMIM:181000 ORPHA:220393 ORPHA:220402 ORPHA:797 |
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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HPS1 |
HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 |
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IAGP |
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HPO |
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OMIM:203300 |
NCBI chr10:98,413,948...98,446,935
Ensembl chr10:98,410,939...98,446,963
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HPS4 |
HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 |
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IAGP |
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HPO |
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OMIM:614073 |
NCBI chr22:26,443,109...26,483,863
Ensembl chr22:26,443,107...26,483,931
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HPS6 |
HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 |
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IAGP |
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HPO |
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OMIM:614075 |
NCBI chr10:102,065,349...102,068,036
Ensembl chr10:102,065,349...102,068,036
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IL1RN |
interleukin 1 receptor antagonist |
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IAGP |
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HPO |
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OMIM:612852 |
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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IRAK1 |
interleukin 1 receptor associated kinase 1 |
susceptibility |
IAGP |
DNA:missense mutation:cds:p.F196S (rs1059702) |
RGD |
PMID:21898345 |
RGD:7495782 |
NCBI chr X:154,010,507...154,019,902
Ensembl chr X:154,010,506...154,019,902
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IRF5 |
interferon regulatory factor 5 |
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IAGP |
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HPO |
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ORPHA:220393 ORPHA:220402 |
NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
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IRX4 |
iroquois homeobox 4 |
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IAGP |
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 5:1,877,413...1,887,179
Ensembl chr 5:1,877,413...1,887,236
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KIAA0319L |
KIAA0319 like |
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IAGP |
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HPO |
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ORPHA:220402 |
NCBI chr 1:35,433,492...35,557,661
Ensembl chr 1:35,393,883...35,557,950
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KIF15 |
kinesin family member 15 |
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IAGP |
ClinVar Annotator: match by term: Pulmonary fibrosis |
ClinVar |
PMID:35417304 |
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NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376
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LOC110806263 |
TERT 5' regulatory region |
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IAGP |
ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16247010 PMID:17392301 PMID:17460043 PMID:17576681 PMID:19147845 PMID:19489057 PMID:19796246 PMID:20301779 PMID:20871597 PMID:21520174 PMID:21931702 PMID:22037553 PMID:23066086 PMID:23348503 PMID:23535731 PMID:23901009 PMID:24033266 PMID:25741868 PMID:26194807 PMID:26433962 PMID:28492532 PMID:28677271 PMID:28818973 PMID:30523342 PMID:30995915 PMID:31268371 PMID:31395865 PMID:34019641 More...
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NCBI chr 5:1,294,628...1,298,988
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LOC110806264 |
TERT enhancer in intron 2 |
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IAGP |
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis |
ClinVar |
PMID:28492532 |
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NCBI chr 5:1,286,474...1,287,720
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LOC110806306 |
telomerase RNA component (TERC) promoter |
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IAGP |
ClinVar Annotator: match by term: Pulmonary fibrosis |
ClinVar |
PMID:10721988 PMID:14630445 PMID:15082312 PMID:15886322 PMID:17460043 PMID:20193600 PMID:21844345 PMID:21931702 PMID:25741868 PMID:26136524 PMID:28492532 More...
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NCBI chr 3:169,764,689...169,765,858
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LPCAT1 |
lysophosphatidylcholine acyltransferase 1 |
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IAGP |
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 5:1,461,427...1,523,960
Ensembl chr 5:1,456,480...1,523,962
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MARS1 |
methionyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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OMIM:615486 |
NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569
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MRPL36 |
mitochondrial ribosomal protein L36 |
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IAGP |
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 5:1,798,385...1,801,434
Ensembl chr 5:1,798,385...1,801,366
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MRPS22 |
mitochondrial ribosomal protein S22 |
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IAGP |
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HPO |
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ORPHA:243 |
NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497
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MSH4 |
mutS homolog 4 |
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IAGP |
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HPO |
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ORPHA:243 |
NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242
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MUC5B |
mucin 5B, oligomeric mucus/gel-forming |
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IAGP |
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HPO |
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OMIM:178500 ORPHA:2032 |
NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172
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NAF1 |
nuclear assembly factor 1 ribonucleoprotein |
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IAGP |
ClinVar Annotator: match by term: Pulmonary fibrosis |
ClinVar HPO |
PMID:25741868 PMID:28492532 |
OMIM:620365 |
NCBI chr 4:163,103,929...163,166,890
Ensembl chr 4:163,110,073...163,166,890
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NDUFAF6 |
NADH:ubiquinone oxidoreductase complex assembly factor 6 |
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IAGP |
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HPO |
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OMIM:618913 ORPHA:3337 |
NCBI chr 8:94,895,799...95,118,496
Ensembl chr 8:94,895,533...95,116,455
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NDUFS6 |
NADH:ubiquinone oxidoreductase subunit S6 |
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IAGP |
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 5:1,801,407...1,816,048
Ensembl chr 5:1,801,407...1,816,048
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NHLRC2 |
NHL repeat containing 2 |
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IAGP |
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HPO |
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OMIM:618278 |
NCBI chr10:113,854,661...113,917,194
Ensembl chr10:113,854,661...113,917,194
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NHP2 |
NHP2 ribonucleoprotein |
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IAGP |
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HPO |
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OMIM:224230 |
NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894
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NKD2 |
NKD inhibitor of WNT signaling pathway 2 |
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IAGP |
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 5:1,008,802...1,038,943
Ensembl chr 5:1,008,802...1,038,943
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NKX2-1 |
NK2 homeobox 1 |
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IAGP |
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HPO |
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OMIM:610978 ORPHA:209905 |
NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
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NOP10 |
NOP10 ribonucleoprotein |
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IAGP |
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HPO |
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OMIM:224230 OMIM:620400 |
NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180
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NPC2 |
NPC intracellular cholesterol transporter 2 |
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IAGP |
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HPO |
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OMIM:607625 |
NCBI chr14:74,479,935...74,493,512
Ensembl chr14:74,476,192...74,494,177
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NR5A1 |
nuclear receptor subfamily 5 group A member 1 |
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IAGP |
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HPO |
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ORPHA:243 |
NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420
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NUP107 |
nucleoporin 107 |
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IAGP |
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HPO |
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ORPHA:243 |
NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809
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PARN |
poly(A)-specific ribonuclease |
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IAGP |
ClinVar Annotator: match by term: Pulmonary fibrosis |
ClinVar HPO |
PMID:9736620 PMID:16199547 PMID:25741868 PMID:25848748 PMID:26482878 PMID:26810774 PMID:28192371 PMID:28414520 PMID:28492532 PMID:28495692 PMID:30525901 More...
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OMIM:616371 ORPHA:2032 |
NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
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G |
PLEC |
plectin |
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IAGP |
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HPO |
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ORPHA:254361 |
NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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G |
POLR3H |
RNA polymerase III subunit H |
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IAGP |
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HPO |
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ORPHA:243 |
NCBI chr22:41,525,799...41,544,606
Ensembl chr22:41,525,799...41,544,606
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G |
PRKCD |
protein kinase C delta |
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IAGP |
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HPO |
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ORPHA:3261 |
NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
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G |
PRTN3 |
proteinase 3 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175
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G |
PSMC3IP |
PSMC3 interacting protein |
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IAGP |
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HPO |
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ORPHA:243 |
NCBI chr17:42,572,310...42,577,831
Ensembl chr17:42,572,310...42,577,831
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G |
PTPN22 |
protein tyrosine phosphatase non-receptor type 22 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
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G |
RAC2 |
Rac family small GTPase 2 |
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IAGP |
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HPO |
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OMIM:618986 |
NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594
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G |
RASGRP1 |
RAS guanyl releasing protein 1 |
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IAGP |
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HPO |
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ORPHA:3261 |
NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575
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G |
RCBTB1 |
RCC1 and BTB domain containing protein 1 |
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IAGP |
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HPO |
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OMIM:617175 |
NCBI chr13:49,531,946...49,585,558
Ensembl chr13:49,531,946...49,585,558
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G |
RNF168 |
ring finger protein 168 |
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IAGP |
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HPO |
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OMIM:611943 ORPHA:420741 |
NCBI chr 3:196,468,783...196,503,768
Ensembl chr 3:196,468,783...196,503,768
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G |
RPA1 |
replication protein A1 |
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IAGP |
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HPO |
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OMIM:619767 |
NCBI chr17:1,830,005...1,900,082
Ensembl chr17:1,829,702...1,900,082
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RTEL1 |
regulator of telomere elongation helicase 1 |
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IAGP |
ClinVar Annotator: match by term: Pulmonary fibrosis |
ClinVar HPO |
PMID:16199547 PMID:23329068 PMID:23453664 PMID:23959892 PMID:24033266 PMID:25047097 PMID:25326637 PMID:25607374 PMID:25741868 PMID:25848748 PMID:27128385 PMID:27540018 PMID:28099038 PMID:28104920 PMID:28192371 PMID:28492532 PMID:28495916 PMID:28930861 PMID:29146883 PMID:29344583 PMID:29361909 PMID:30523160 PMID:31785789 PMID:36655009 PMID:37392813 More...
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OMIM:616373 ORPHA:2032 |
NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
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G |
RTEL1-TNFRSF6B |
RTEL1-TNFRSF6B readthrough (NMD candidate) |
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IAGP |
ClinVar Annotator: match by term: Pulmonary fibrosis |
ClinVar |
PMID:16199547 PMID:23329068 PMID:23453664 PMID:23959892 PMID:24033266 PMID:25047097 PMID:25326637 PMID:25607374 PMID:25741868 PMID:25848748 PMID:27128385 PMID:27540018 PMID:28099038 PMID:28104920 PMID:28192371 PMID:28492532 PMID:28495916 PMID:28930861 PMID:29146883 PMID:29344583 PMID:29361909 PMID:30523160 PMID:31785789 PMID:36655009 PMID:37392813 More...
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NCBI chr20:63,657,810...63,698,698
Ensembl chr20:63,659,300...63,698,684
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G |
SETD2 |
SET domain containing 2, histone lysine methyltransferase |
exacerbates |
IAGP |
DNA:mutations:multiple |
RGD |
PMID:33533494 |
RGD:150429642 |
NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113
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G |
SFTPA1 |
surfactant protein A1 |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
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G |
SFTPA2 |
surfactant protein A2 |
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IAGP |
ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis |
ClinVar HPO |
PMID:19100526 |
OMIM:178500 ORPHA:2032 |
NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407
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G |
SFTPC |
surfactant protein C |
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IAGP |
ClinVar Annotator: match by term: Pulmonary fibrosis |
ClinVar HPO |
PMID:15039969 PMID:15293602 PMID:15572558 PMID:15756222 PMID:17597647 PMID:19443464 PMID:21092132 PMID:21707890 PMID:22308375 PMID:25657025 PMID:25741868 PMID:27362365 PMID:28492532 PMID:31081264 PMID:33526882 More...
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OMIM:178500 OMIM:610913 ORPHA:2032 |
NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
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SLC12A7 |
solute carrier family 12 member 7 |
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IAGP |
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 5:1,050,384...1,155,899
Ensembl chr 5:1,050,384...1,112,063
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SLC34A1 |
solute carrier family 34 member 1 |
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IAGP |
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HPO |
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ORPHA:3337 |
NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848
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SLC34A2 |
solute carrier family 34 member 2 |
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IAGP |
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HPO |
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ORPHA:60025 |
NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
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SLC6A18 |
solute carrier family 6 member 18 |
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IAGP |
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 5:1,225,381...1,246,189
Ensembl chr 5:1,225,381...1,246,189
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SLC6A19 |
solute carrier family 6 member 19 |
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IAGP |
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 5:1,201,595...1,225,111
Ensembl chr 5:1,201,595...1,225,111
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SLC6A3 |
solute carrier family 6 member 3 |
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IAGP |
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440
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SLC9A3 |
solute carrier family 9 member A3 |
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IAGP |
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 5:470,456...524,449
Ensembl chr 5:470,456...524,449
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SP110 |
SP110 nuclear body protein |
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IAGP |
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HPO |
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ORPHA:79124 |
NCBI chr 2:230,165,186...230,225,636
Ensembl chr 2:230,165,186...230,225,729
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SPIDR |
scaffold protein involved in DNA repair |
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IAGP |
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HPO |
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ORPHA:243 |
NCBI chr 8:47,260,878...47,736,306
Ensembl chr 8:47,260,878...47,736,306
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STAT4 |
signal transducer and activator of transcription 4 |
susceptibility no_association |
IAGP |
DNA:SNPs:introns: (rs3821236, rs7574865, rs10168266) DNA:SNP:intron: (rs7574865) |
RGD |
PMID:23755762 PMID:19286670 |
RGD:8661701, RGD:8661714 |
NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596
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STING1 |
stimulator of interferon response cGAMP interactor 1 |
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IAGP |
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HPO |
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OMIM:615934 |
NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
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STN1 |
STN1 subunit of CST complex |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332
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TERC |
telomerase RNA component |
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IAGP |
ClinVar Annotator: match by term: Pulmonary fibrosis |
ClinVar HPO |
PMID:10721988 PMID:14630445 PMID:15082312 PMID:15886322 PMID:17460043 PMID:20193600 PMID:21844345 PMID:21931702 PMID:25741868 PMID:26136524 PMID:28492532 More...
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OMIM:127550 OMIM:614743 ORPHA:2032 |
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 |
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IAGP |
ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis |
ClinVar HPO |
PMID:9536098 PMID:12167716 PMID:12629597 PMID:15814878 PMID:15885610 PMID:16199547 PMID:16247010 PMID:16332973 PMID:16627250 PMID:17264120 PMID:17392301 PMID:17460043 PMID:17576681 PMID:17785587 PMID:18042801 PMID:18302718 PMID:18460650 PMID:18635888 PMID:18753630 PMID:18931339 PMID:19147845 PMID:19489057 PMID:19561322 PMID:19674077 PMID:19760749 PMID:19796246 PMID:20022961 PMID:20044353 PMID:20301779 PMID:20502709 PMID:20858879 PMID:20871597 PMID:20966039 PMID:21258621 PMID:21349926 PMID:21436073 PMID:21483807 PMID:21520173 PMID:21520174 PMID:21602826 PMID:21635204 PMID:21931702 PMID:22037553 PMID:22364217 PMID:22424236 PMID:22476886 PMID:22512499 PMID:22664374 PMID:22853774 PMID:22863003 PMID:23000435 PMID:23066086 PMID:23258901 PMID:23335200 PMID:23348503 PMID:23535731 PMID:23538340 PMID:23716176 PMID:23901009 PMID:23905534 PMID:24033266 PMID:24833766 PMID:24983628 PMID:25108601 PMID:25244922 PMID:25271372 PMID:25365545 PMID:25393420 PMID:25562321 PMID:25612863 PMID:25640679 PMID:25741868 PMID:25785092 PMID:26024875 PMID:26136524 PMID:26158642 PMID:26194807 PMID:26329388 PMID:26360549 PMID:26433962 PMID:26580448 PMID:26859482 PMID:26887940 PMID:27159321 PMID:27192671 PMID:27354474 PMID:27418648 PMID:27540018 PMID:27622320 PMID:27824607 PMID:27836952 PMID:27848944 PMID:28099038 PMID:28102861 PMID:28104920 PMID:28154186 PMID:28192371 PMID:28492532 PMID:28495683 PMID:28677271 PMID:28767289 PMID:28818973 PMID:28873162 PMID:29036293 PMID:29146883 PMID:29382801 PMID:29463756 PMID:29483670 PMID:29625052 PMID:29749397 PMID:30203795 PMID:30426156 PMID:30523342 PMID:30603600 PMID:30791107 PMID:30995915 PMID:31119896 PMID:31268371 PMID:31395865 PMID:32076714 PMID:32150348 PMID:32315675 PMID:33035329 PMID:33709208 PMID:33718801 PMID:34019641 PMID:34565437 PMID:34890115 PMID:35171259 PMID:35776903 PMID:37359275 More...
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OMIM:127550 OMIM:178500 OMIM:613989 OMIM:614742 ORPHA:2032 |
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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THOC2 |
THO complex subunit 2 |
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IAGP |
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HPO |
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ORPHA:457240 |
NCBI chr X:123,600,569...123,733,052
Ensembl chr X:123,600,561...123,733,056
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TINF2 |
TERF1 interacting nuclear factor 2 |
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IAGP |
ClinVar Annotator: match by term: Pulmonary fibrosis |
HPO ClinVar |
PMID:18252230 PMID:21536674 PMID:28492532 |
OMIM:127550 OMIM:613990 |
NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
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TOM1 |
target of myb1 membrane trafficking protein |
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IAGP |
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HPO |
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OMIM:619510 |
NCBI chr22:35,299,275...35,347,973
Ensembl chr22:35,299,275...35,347,992
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TP53 |
tumor protein p53 |
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IAGP |
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HPO |
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OMIM:618165 |
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
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TPPP |
tubulin polymerization promoting protein |
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IAGP |
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 5:659,862...700,727
Ensembl chr 5:659,862...693,352
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TRIP13 |
thyroid hormone receptor interactor 13 |
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IAGP |
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357
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ZCCHC8 |
zinc finger CCHC-type containing 8 |
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IAGP |
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HPO |
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OMIM:618674 |
NCBI chr12:122,471,600...122,500,932
Ensembl chr12:122,471,600...122,500,932
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ZDHHC11 |
zinc finger DHHC-type containing 11 |
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IAGP |
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 5:795,605...860,563
Ensembl chr 5:795,605...858,973
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ZDHHC11B |
zinc finger DHHC-type containing 11B |
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IAGP |
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 5:710,355...784,729
Ensembl chr 5:710,355...784,729
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ZSWIM7 |
zinc finger SWIM-type containing 7 |
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IAGP |
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HPO |
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ORPHA:243 |
NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717
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SLC11A1 |
solute carrier family 11 member 1 |
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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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IL2RA |
interleukin 2 receptor subunit alpha |
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IAGP |
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HPO |
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OMIM:606367 |
NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
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ABCA3 |
ATP binding cassette subfamily A member 3 |
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IAGP |
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HPO |
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OMIM:610921 ORPHA:2032 |
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 |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168
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DPP9 |
dipeptidyl peptidase 9 |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673
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DSP |
desmoplakin |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714
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FAM13A |
family with sequence similarity 13 member A |
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IAGP |
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HPO |
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ORPHA:2032 |
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 |
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IAGP |
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HPO |
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ORPHA:2032 |
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 |
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IAGP |
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HPO |
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ORPHA:2032 |
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 |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
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SFTPA1 |
surfactant protein A1 |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
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SFTPA2 |
surfactant protein A2 |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407
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SFTPC |
surfactant protein C |
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IAGP |
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HPO |
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ORPHA:2032 |
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 |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332
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TERC |
telomerase RNA component |
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IAGP |
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HPO |
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ORPHA:2032 |
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 |
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IAGP |
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HPO |
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OMIM:614742 ORPHA:2032 |
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 |
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IAGP |
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HPO |
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ORPHA:133 |
NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696
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ABCA3 |
ATP binding cassette subfamily A member 3 |
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IAGP |
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HPO |
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OMIM:610921 ORPHA:2032 |
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 |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168
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DPP9 |
dipeptidyl peptidase 9 |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673
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DSP |
desmoplakin |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714
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FAM13A |
family with sequence similarity 13 member A |
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IAGP |
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HPO |
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ORPHA:2032 |
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 |
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IAGP |
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HPO |
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OMIM:178500 ORPHA:2032 |
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 |
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IAGP |
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HPO |
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ORPHA:2032 |
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 |
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IAGP |
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HPO |
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OMIM:616373 ORPHA:2032 |
NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
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SETD2 |
SET domain containing 2, histone lysine methyltransferase |
exacerbates |
IAGP |
DNA:mutations:multiple |
RGD |
PMID:33533494 |
RGD:150429642 |
NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113
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SFTPA1 |
surfactant protein A1 |
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IAGP |
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HPO |
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OMIM:619611 ORPHA:2032 |
NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
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SFTPA2 |
surfactant protein A2 |
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IAGP |
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HPO |
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OMIM:178500 ORPHA:2032 |
NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407
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SFTPC |
surfactant protein C |
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IAGP |
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HPO |
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OMIM:178500 ORPHA:2032 |
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 |
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IAGP |
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HPO |
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ORPHA:2032 |
NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332
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TERC |
telomerase RNA component |
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IAGP |
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HPO |
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ORPHA:2032 |
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 |
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IAGP |
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HPO |
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OMIM:178500 OMIM:614742 ORPHA:2032 |
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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Term paths to the root
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