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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:interstitial lung disease 2
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Accession:DOID:0060971 term browser browse the term
Definition:An interstitial lung disease pulmonary fibrosis that is characterized by scarring of the lung and that has_material_basis_in heterozygous mutation in the SFTPA2 gene on chromosome 10q22. (DO)
Synonyms:exact_synonym: ILD2
 xref: MIM:178500


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interstitial lung disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:15976379 PMID:17597647 PMID:18024538 PMID:18246475 PMID:18317237 More... NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745 		JBrowse link
G Ahrr aryl-hydrocarbon receptor repressor ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:28,993,634...29,088,673
Ensembl chr 1:28,993,634...29,088,673 		JBrowse link
G Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:45,551,603...45,595,862
Ensembl chr15:45,551,603...45,595,776 		JBrowse link
G Brd9 bromodomain containing 9 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,329,981...29,357,285
Ensembl chr 1:29,329,985...29,357,016 		JBrowse link
G Cep72 centrosomal protein 72 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,225,312...29,255,294
Ensembl chr 1:29,225,361...29,255,271 		JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661 		JBrowse link
G Exoc3 exocyst complex component 3 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,091,298...29,122,056
Ensembl chr 1:29,091,294...29,122,045 		JBrowse link
G Fam13a family with sequence similarity 13, member A ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar NCBI chr 4:88,056,521...88,155,782
Ensembl chr 4:88,058,403...88,155,860 		JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:16199547 PMID:19494218 PMID:21792839 PMID:22940634 PMID:26100510 More... NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp19 matrix metallopeptidase 19 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar NCBI chr 7:1,221,229...1,229,555
Ensembl chr 7:1,221,343...1,229,555 		JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming susceptibility ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar
OMIM		 PMID:21506741 PMID:21506748 PMID:23321605 PMID:23692170 PMID:23695349 More... NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250 		JBrowse link
G Nkd2 NKD inhibitor of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,442,898...29,470,839
Ensembl chr 1:29,441,328...29,470,821 		JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791 		JBrowse link
G Pdcd6 programmed cell death 6 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:28,966,518...28,982,188
Ensembl chr 1:28,966,518...28,982,189 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:16199547 PMID:23329068 PMID:23453664 PMID:23959892 PMID:24009516 More... NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348 		JBrowse link
G Rtkn2 rhotekin 2 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar NCBI chr20:20,536,628...20,609,951
Ensembl chr20:20,525,256...20,609,951 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
G Sftpa1 surfactant protein A1 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:25741868 NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685 		JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:14735158 PMID:15039969 PMID:15516475 PMID:15709974 PMID:18383112 More... NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777 		JBrowse link
G Slc12a7 solute carrier family 12 member 7 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,472,692...29,554,246
Ensembl chr 1:29,472,692...29,554,302 		JBrowse link
G Slc6a18 solute carrier family 6 member 18 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,607,288...29,621,925
Ensembl chr 1:29,608,077...29,621,925 		JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,586,191...29,604,964
Ensembl chr 1:29,586,195...29,604,962 		JBrowse link
G Slc9a3 solute carrier family 9 member A3 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417 		JBrowse link
G Terc telomerase RNA component ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:17392301 NCBI chr 2:112,815,654...112,816,041 JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:15814878 PMID:16199547 PMID:16247010 PMID:17392301 More... NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tollip toll interacting protein ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar NCBI chr 1:196,961,585...196,984,252
Ensembl chr 1:196,950,771...196,983,625 		JBrowse link
G Tppp tubulin polymerization promoting protein ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,257,111...29,281,134
Ensembl chr 1:29,261,255...29,281,134 		JBrowse link
G Trip13 thyroid hormone receptor interactor 13 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,357,093...29,402,078
Ensembl chr 1:29,357,130...29,402,074 		JBrowse link
G Zdhhc11 zinc finger, DHHC-type containing 11 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,296,334...29,327,227
Ensembl chr 1:29,296,334...29,326,898 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      musculoskeletal system disease 8488
        connective tissue disease 5958
          interstitial lung disease 554
            interstitial lung disease 2 34
Path 2
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13610
        genetic disease 13271
          monogenic disease 10820
            autosomal genetic disease 10300
              autosomal dominant disease 6645
                interstitial lung disease 2 34
paths to the root