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: Fanconi anemia complementation group A
Accession: DOID:0111095
browse the term
Definition: A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24. (DO)
Synonyms: exact_synonym: FANCA; FANCA-RELATED CONDITION; FANCONI ANEMIA, GROUP A
primary_id: OMIM:227650
alt_id: RDO:9002144
xref: EFO:0009044 ; NCI:C125702
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Aopep
aminopeptidase O
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:08128956 PMID:08844212 PMID:8882868 PMID:9521584 PMID:09616183 PMID:12670332 PMID:17924555 PMID:22995991 PMID:23028338 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26467025 PMID:26740942 PMID:27153395 PMID:28125075 PMID:28492532 PMID:28767289 PMID:28775315 PMID:30541756 PMID:31133068 PMID:31784482 PMID:32546565 PMID:32566746 PMID:32659497 PMID:32885271 PMID:33471991 PMID:34117267 PMID:34426522 PMID:37349538 More...
NCBI chr17:1,811,281...2,127,316
Ensembl chr17:1,811,980...2,127,331
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Brca1
BRCA1, DNA repair associated
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:11157798 PMID:11802209 PMID:12496476 PMID:15235020 PMID:17279547 PMID:17308087 PMID:17574969 PMID:17924331 PMID:19200354 PMID:19563646 PMID:20516115 PMID:21324516 PMID:21356067 PMID:21473589 PMID:21702907 PMID:21965345 PMID:21990134 PMID:22889855 PMID:23289006 PMID:23867111 PMID:24055113 PMID:24569164 PMID:24845084 PMID:25472942 PMID:25741868 PMID:26467025 PMID:26689913 PMID:26884819 PMID:27272900 PMID:28265380 PMID:28324225 PMID:28477318 PMID:28492532 PMID:28724667 PMID:28831036 PMID:29161300 PMID:29297111 PMID:29712865 PMID:30103829 PMID:30287823 PMID:30825404 PMID:31454914 PMID:31472684 PMID:31825140 PMID:32338768 PMID:33098347 PMID:33468216 PMID:33471991 More...
NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
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Cdk10
cyclin-dependent kinase 10
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:23613520
NCBI chr19:51,260,012...51,273,009
Ensembl chr19:51,261,356...51,269,078
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Chmp1a
charged multivesicular body protein 1A
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:23613520
NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436
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Cpne7
copine 7
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:23613520
NCBI chr19:51,164,316...51,182,676
Ensembl chr19:51,166,034...51,182,677
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Dmd
dystrophin
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:25741868
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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Dpep1
dipeptidase 1
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:23613520
NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257
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Fanca
FA complementation group A
ISO ISS
OMIM:227650 ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A
OMIM MouseDO ClinVar
PMID:1792455 PMID:1927896 PMID:2339692 PMID:2472832 PMID:08896563 PMID:08896564 PMID:09371798 PMID:09399890 PMID:9536098 PMID:9711872 PMID:09721219 PMID:9929978 PMID:10090479 PMID:10094191 PMID:10373536 PMID:10521298 PMID:10807541 PMID:10862090 PMID:11050007 PMID:11063725 PMID:11091222 PMID:11344308 PMID:11739169 PMID:12031647 PMID:12444097 PMID:12697994 PMID:12827451 PMID:12955722 PMID:14695169 PMID:15059067 PMID:15516848 PMID:15522956 PMID:15523645 PMID:15591268 PMID:15609317 PMID:15643609 PMID:16084127 PMID:16116422 PMID:16199547 PMID:16397136 PMID:16445838 PMID:16611311 PMID:16720839 PMID:16774934 PMID:16946016 PMID:17327415 PMID:17576681 PMID:17726045 PMID:17924555 PMID:18414213 PMID:19109555 PMID:19139070 PMID:19278965 PMID:19367192 PMID:19423727 PMID:20301575 PMID:20435624 PMID:21273304 PMID:21279724 PMID:21519011 PMID:21520333 PMID:21659346 PMID:22178060 PMID:22720145 PMID:22778927 PMID:22950077 PMID:23021409 PMID:23067021 PMID:23613520 PMID:23806870 PMID:23898106 PMID:23934222 PMID:23960188 PMID:23973728 PMID:24037726 PMID:24082139 PMID:24349332 PMID:24584348 PMID:24704046 PMID:24728327 PMID:24793135 PMID:24989076 PMID:25168418 PMID:25239263 PMID:25288723 PMID:25525159 PMID:25533962 PMID:25583207 PMID:25703136 PMID:25741868 PMID:25741905 PMID:25741913 PMID:25741916 PMID:25751062 PMID:25953249 PMID:26136524 PMID:26140431 PMID:26181256 PMID:26201965 PMID:26296701 PMID:26467025 PMID:26492932 PMID:26556299 PMID:26580448 PMID:26689913 PMID:26740942 PMID:26799702 PMID:26841305 PMID:27041517 PMID:27148581 PMID:27153395 PMID:27577878 PMID:27701467 PMID:27997549 PMID:28060124 PMID:28102861 PMID:28104920 PMID:28202063 PMID:28215707 PMID:28239445 PMID:28259476 PMID:28492532 PMID:28600779 PMID:28623394 PMID:28678401 PMID:28687356 PMID:28717660 PMID:28717661 PMID:28767289 PMID:28864460 PMID:28873162 PMID:28973083 PMID:28975465 PMID:29093742 PMID:29098742 PMID:29247345 PMID:29269525 PMID:29338072 PMID:29621589 PMID:29625052 PMID:29641532 PMID:29904161 PMID:29976742 PMID:30031030 PMID:30032139 PMID:30057198 PMID:30086788 PMID:30268473 PMID:30306255 PMID:30792206 PMID:30919572 PMID:31030435 PMID:31102422 PMID:31192125 PMID:31259830 PMID:31432501 PMID:31558676 PMID:31586946 PMID:31589614 PMID:31655866 PMID:31698007 PMID:31721781 PMID:32002546 PMID:32107087 PMID:32235514 PMID:32268276 PMID:32487094 PMID:32546565 PMID:32659497 PMID:32659967 PMID:32793304 PMID:32850347 PMID:32947577 PMID:33088445 PMID:33172906 PMID:33224011 PMID:33224012 PMID:33332384 PMID:33482836 PMID:33558524 PMID:33679882 PMID:33686268 PMID:33718801 PMID:33762291 PMID:33883933 PMID:34008892 PMID:34130653 PMID:34173971 PMID:34250406 PMID:34308366 PMID:34422195 PMID:34426522 PMID:34512202 PMID:34585473 PMID:34598035 PMID:34741701 PMID:34754157 PMID:34864095 PMID:34902740 PMID:34906502 PMID:35348533 PMID:35655404 PMID:37349538 More...
NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
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Fancb
FA complementation group B
ISO
ClinVar Annotator: match by term: Fanconi anemia, group A
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192
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Fancc
FA complementation group C
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:08128956 PMID:08348157 PMID:08844212 PMID:8882868 PMID:9521584 PMID:09616183 PMID:12670332 PMID:14726700 PMID:15695377 PMID:17924555 PMID:22995991 PMID:23028338 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26467025 PMID:26740942 PMID:27153395 PMID:28125075 PMID:28492532 PMID:28678401 PMID:28767289 PMID:28775315 PMID:30541756 PMID:31133068 PMID:31784482 PMID:32546565 PMID:32566746 PMID:32659497 PMID:32885271 PMID:33471991 PMID:34117267 PMID:34426522 PMID:37349538 More...
NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
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Fancd2
FA complementation group D2
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:24728327 PMID:25168418 PMID:25741868 PMID:25927356 PMID:28492532
NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
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Fancd2os
FANCD2 opposite strand
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:25741868 PMID:25927356 PMID:28492532
NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
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Fancg
FA complementation group G
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
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Fanci
FA complementation group I
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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Fancl
FA complementation group L
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:23613520 PMID:25741868 PMID:26822237 PMID:26822949 PMID:28125075 PMID:28423363 PMID:28492532 PMID:28678401 PMID:30306255 PMID:32235514 More...
NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255
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Fancm
FA complementation group M
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:17289582 PMID:18174376 PMID:19379763 PMID:23932590 PMID:24003026 PMID:25288723 PMID:25741868 PMID:26467025 PMID:26822949 PMID:28033443 PMID:28492532 PMID:28837162 PMID:28881617 PMID:29231814 PMID:29351780 PMID:30075111 PMID:30426508 PMID:31263571 PMID:31589614 PMID:31700994 PMID:32054657 PMID:32338768 PMID:33099839 PMID:33471991 PMID:34117267 More...
NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
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Slx4
SLX4 structure-specific endonuclease subunit
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A | ClinVar Annotator: match by term: Fanconi anemia, group A
ClinVar
PMID:21240277 PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 PMID:25741868 PMID:26201965 PMID:28202063 PMID:28492532 PMID:30613976 PMID:32546565 PMID:33606809 More...
NCBI chr10:11,526,623...11,549,313
Ensembl chr10:11,528,424...11,549,295
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Spata2L
spermatogenesis associated 2-like
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:23613520
NCBI chr19:51,269,078...51,273,605
Ensembl chr19:51,269,078...51,273,510
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Spata33
spermatogenesis associated 33
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:23613520
NCBI chr19:51,246,514...51,258,894
Ensembl chr19:51,246,514...51,258,894
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Vps9d1
VPS9 domain containing 1
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:23613520
NCBI chr19:51,276,998...51,290,726
Ensembl chr19:51,277,000...51,290,634
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Vrk2
VRK serine/threonine kinase 2
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 PMID:28125075 PMID:28423363 PMID:28492532 PMID:28678401 PMID:30306255 PMID:32235514 More...
NCBI chr14:100,313,771...100,434,520
Ensembl chr14:100,313,601...100,434,527
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Zfp276
zinc finger protein (C2H2 type) 276
ISO
ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:9371798 PMID:09399890 PMID:9536098 PMID:09721219 PMID:10090479 PMID:10094191 PMID:10521298 PMID:11091222 PMID:12444097 PMID:12955722 PMID:15059067 PMID:15522956 PMID:15523645 PMID:15643609 PMID:16084127 PMID:16199547 PMID:17327415 PMID:17576681 PMID:17924555 PMID:18414213 PMID:19109555 PMID:19139070 PMID:19278965 PMID:19367192 PMID:21273304 PMID:21659346 PMID:22178060 PMID:22778927 PMID:23021409 PMID:23613520 PMID:23960188 PMID:23973728 PMID:24037726 PMID:24584348 PMID:24728327 PMID:24793135 PMID:25168418 PMID:25741868 PMID:26296701 PMID:26467025 PMID:26580448 PMID:26689913 PMID:27041517 PMID:28060124 PMID:28102861 PMID:28202063 PMID:28492532 PMID:28623394 PMID:28678401 PMID:28717661 PMID:28767289 PMID:28864460 PMID:28873162 PMID:29098742 PMID:29904161 PMID:30031030 PMID:30032139 PMID:30792206 PMID:30919572 PMID:31586946 PMID:31698007 PMID:32546565 PMID:33172906 PMID:33686268 PMID:33718801 PMID:34308366 PMID:34512202 PMID:34585473 More...
NCBI chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049
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Zfp469
zinc finger protein 469
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:25168418
NCBI chr19:50,282,337...50,324,010
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