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
ISO
ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1
ClinVar
PMID:25741868
NCBI chr 6:38,679,312...38,712,868
Ensembl chr 6:38,679,324...38,712,648
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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 chr10:307,693...325,766
Ensembl chr10:320,366...323,844
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SFTPB
surfactant protein B
ISO
ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1
OMIM ClinVar
PMID:7491219 PMID:8163685 PMID:9506635 PMID:9682215 PMID:9973546 PMID:10378403 PMID:10571948 PMID:10712351 PMID:10960490 PMID:21965505 PMID:23625987 PMID:24033266 PMID:25741868 PMID:26199800 PMID:28492532 PMID:28888561 More...
NCBI chr17:39,419,305...39,428,513
Ensembl chr17:39,386,584...39,426,229
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SFTPC
surfactant protein C
ISO
ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1
ClinVar
PMID:25741868
NCBI chr25:35,088,295...35,090,995
Ensembl chr25:35,088,279...35,091,457
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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 chr25:35,043,594...35,087,282
Ensembl chr25:35,020,751...35,087,545
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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:14735158 PMID:15039969 PMID:15293602 PMID:15516475 PMID:15572558 PMID:15647591 PMID:15709974 PMID:15756222 PMID:17005585 PMID:17597647 PMID:18383112 PMID:19443464 PMID:19910179 PMID:20118944 PMID:20403820 PMID:20658481 PMID:21092132 PMID:21707890 PMID:21828032 PMID:22308375 PMID:23025826 PMID:23166334 PMID:23775869 PMID:24033266 PMID:24081995 PMID:24347114 PMID:25105258 PMID:25657025 PMID:25741868 PMID:25782673 PMID:27362365 PMID:28492532 PMID:29554876 PMID:29569581 PMID:31081264 PMID:33526882 More...
NCBI chr25:35,088,295...35,090,995
Ensembl chr25:35,088,279...35,091,457
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USH2A
usherin
ISO
ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 2
ClinVar
PMID:10729113 PMID:10909849 PMID:19881469 PMID:20507924 PMID:24033266 PMID:25649381 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28559085 More...
NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
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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:7374344 PMID:15044640 PMID:15976379 PMID:16641205 PMID:16728712 PMID:17429902 PMID:17517255 PMID:17597647 PMID:17618459 PMID:17719949 PMID:18024538 PMID:18246475 PMID:18317237 PMID:18492541 PMID:18603241 PMID:18676873 PMID:19220077 PMID:19647838 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:23443156 PMID:23625987 PMID:24033266 PMID:24047351 PMID:24115460 PMID:24136335 PMID:24142515 PMID:24628317 PMID:24657120 PMID:24871971 PMID:25073622 PMID:25105258 PMID:25113300 PMID:25406294 PMID:25553246 PMID:25692779 PMID:25712598 PMID:25741868 PMID:26375475 PMID:26467025 PMID:26517903 PMID:26547207 PMID:26928390 PMID:27374344 PMID:27516224 PMID:27670912 PMID:28034695 PMID:28492532 PMID:28642621 PMID:28808495 PMID:29431110 PMID:29505158 PMID:29566461 PMID:30609409 PMID:30755392 PMID:31210424 PMID:31589614 PMID:31980526 PMID:32196812 PMID:32238781 PMID:32392962 PMID:32692933 PMID:32782805 PMID:33110422 PMID:33240318 PMID:33359301 PMID:33526094 PMID:33526882 PMID:33708521 PMID:34132118 PMID:34638622 PMID:34715861 PMID:35170262 PMID:35626240 PMID:36370864 PMID:36376106 PMID:36404394 PMID:36808083 PMID:37108718 More...
NCBI chr 6:38,679,312...38,712,868
Ensembl chr 6:38,679,324...38,712,648
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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 chr X:832,170...855,548
Ensembl chr X:832,046...853,876
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CSF2RB
colony stimulating factor 2 receptor subunit beta
ISO
ClinVar Annotator: match by term: CSF2RB-related condition | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:21075760 PMID:21205713 PMID:24033266 PMID:25741868 PMID:27118405 PMID:28492532 More...
NCBI chr10:27,541,645...27,566,907
Ensembl chr10:27,541,647...27,567,278
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