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.
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Abca3
ATP binding cassette subfamily A member 3
ISS
OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370
MouseDO
NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
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Ccl4
C-C motif chemokine ligand 4
ISO
RGD
PMID:19046553
RGD:4143497
NCBI chr10:68,466,469...68,467,941
Ensembl chr10:68,452,052...68,468,231
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Csf2
colony stimulating factor 2
ISO ISS
OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370
MouseDO RGD
PMID:21478218 PMID:11179134 PMID:9763547
RGD:5131467 , RGD:10449522 , RGD:10449509
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Csf2ra
colony stimulating factor 2 receptor subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29484482
NCBI chr14:98,089...103,261
Ensembl chr14:89,172...103,128
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Csf2rb
colony stimulating factor 2 receptor subunit beta
ISS
OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370
MouseDO
NCBI chr 7:109,876,919...109,901,589
Ensembl chr 7:109,886,425...109,904,157
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Defb1
defensin beta 1
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:17000097
RGD:4892262
NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604
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Defb4
defensin beta 4
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:17000097
RGD:4892262
NCBI chr16:70,650,472...70,653,665
Ensembl chr16:70,650,472...70,653,665
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Defb5
defensin beta 5
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:17000097
RGD:4892262
NCBI chr16:70,613,200...70,615,360
Ensembl chr16:70,613,146...70,615,467
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Des
desmin
ISO
ClinVar Annotator: match by term: Pulmonary alveolar proteinosis
ClinVar
PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 PMID:28341588 PMID:28492532 PMID:30755392 PMID:32403337 More...
NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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Mars1
methionyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Pulmonary alveolar proteinosis
ClinVar
PMID:25913036
NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495
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Sftpa1
surfactant protein A1
severity
ISO
protein:increased expression:blood protein:altered polymerization:lung protein:increased expression:lung
RGD
PMID:12612307 PMID:8652189 PMID:7654386
RGD:4143411 , RGD:4143450 , RGD:4143454
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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Sftpb
surfactant protein B
ISO ISS
protein:increased expression:blood OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370 protein:increased expression:lung protein:altered processing:lung
MouseDO RGD
PMID:12612307 PMID:7654386 PMID:16042774
RGD:4143411 , RGD:4143454 , RGD:4143392
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
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Sftpc
surfactant protein C
ISS
OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370
MouseDO
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
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Sftpd
surfactant protein D
ISO
protein:increased expression:blood, lung associated with Acquired Immunodeficiency Syndrome;protein:increased expression:lung
RGD
PMID:19046553 PMID:16849999
RGD:4143497 , RGD:4143461
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
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Sftpb
surfactant protein B
ameliorates
ISO
DNA:mutations: :
RGD
PMID:28581337 PMID:10378403
RGD:151667445 , RGD:151667447
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
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Abca3
ATP binding cassette subfamily A member 3
ISO
ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1
ClinVar
PMID:25741868
NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
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Rab5b
RAB5B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: RAB5B-associated surfactant dysfunction disorder
ClinVar
PMID:25741868 PMID:35121658
NCBI chr 7:1,109,449...1,128,348
Ensembl chr 7:1,109,454...1,128,268
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Sftpb
surfactant protein B
ISO
ClinVar Annotator: match by term: INTERSTITIAL LUNG DISEASE DUE TO SURFACTANT PROTEIN B DEFICIENCY | ClinVar Annotator: match by term: INTERSTITIAL LUNG DISEASE, NONSPECIFIC, DUE TO SURFACTANT PROTEIN B DEFICIENCY | ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 1 | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1
OMIM ClinVar
PMID:7491219 PMID:8163685 PMID:9506635 PMID:10378403 PMID:10571948 PMID:10960490 PMID:21965505 PMID:23625987 PMID:24033266 PMID:25741868 PMID:26199800 PMID:28492532 More...
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
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Sftpc
surfactant protein C
ISO
ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 1
ClinVar
PMID:25741868
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
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Bmp1
bone morphogenetic protein 1
ISO
ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr15:45,551,603...45,595,862
Ensembl chr15:45,551,603...45,595,776
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Sftpc
surfactant protein C
ISO
ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2
OMIM ClinVar
PMID:5942662 PMID:11207353 PMID:11893657 PMID:11991887 PMID:12538769 PMID:13817571 PMID:15039969 PMID:15293602 PMID:15516475 PMID:15572558 PMID:15647591 PMID:15756222 PMID:17597647 PMID:18383112 PMID:19443464 PMID:19910179 PMID:21092132 PMID:21707890 PMID:22308375 PMID:23025826 PMID:23775869 PMID:24033266 PMID:24081995 PMID:25657025 PMID:25741868 PMID:25782673 PMID:28492532 PMID:31081264 More...
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
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Abca3
ATP binding cassette subfamily A member 3
ISO
ClinVar Annotator: match by term: Interstitial lung disease due to ABCA3 deficiency | ClinVar Annotator: match by term: Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
OMIM ClinVar
PMID:15044640 PMID:15976379 PMID:16641205 PMID:16728712 PMID:17517255 PMID:17597647 PMID:17719949 PMID:18024538 PMID:18246475 PMID:18317237 PMID:18492541 PMID:18603241 PMID:18676873 PMID:20371530 PMID:20656946 PMID:21214890 PMID:22068586 PMID:22145626 PMID:22304854 PMID:22337229 PMID:22434821 PMID:22435821 PMID:22455634 PMID:22800827 PMID:22866751 PMID:22995991 PMID:23166334 PMID:23625987 PMID:24033266 PMID:24115460 PMID:24136335 PMID:24142515 PMID:24657120 PMID:24871971 PMID:25073622 PMID:25105258 PMID:25113300 PMID:25406294 PMID:25553246 PMID:25712598 PMID:25741868 PMID:26517903 PMID:26547207 PMID:27374344 PMID:27516224 PMID:27670912 PMID:28034695 PMID:28492532 PMID:28642621 PMID:29431110 PMID:29505158 PMID:29566461 PMID:30609409 PMID:30755392 PMID:31589614 PMID:31980526 PMID:32196812 PMID:32238781 PMID:33526094 More...
NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
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Csf2ra
colony stimulating factor 2 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 4
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18955567 PMID:18955570 PMID:20622029 PMID:24033266 PMID:25425184 PMID:25741868 PMID:28492532 PMID:30124884 More...
NCBI chr14:98,089...103,261
Ensembl chr14:89,172...103,128
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Csf2rb
colony stimulating factor 2 receptor subunit beta
ISO
ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5
OMIM ClinVar
PMID:21075760 PMID:21205713 PMID:25741868 PMID:28492532
NCBI chr 7:109,876,919...109,901,589
Ensembl chr 7:109,886,425...109,904,157
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