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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BCKDK
branched chain keto acid dehydrogenase kinase
ISO
DNA:missense mutation:cds:G369E (rat)
RGD
PMID:27472223
RGD:39131293
NCBI chr 6:17,128,615...17,132,925
Ensembl chr 6:17,128,824...17,133,585
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BRDT
bromodomain testis associated
susceptibility
ISO
DNA:SNP: :rs3088232(human)
RGD
PMID:22016351
RGD:9586360
NCBI chr 6:56,918,939...56,977,355
Ensembl chr 6:56,919,195...56,965,638
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BRWD1
bromodomain and WD repeat domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18353305
NCBI chr31:34,122,477...34,240,555
Ensembl chr31:34,122,463...34,240,639
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BSCL2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26181198
NCBI chr18:53,958,380...53,971,120
Ensembl chr18:53,958,475...53,971,119
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CDC14A
cell division cycle 14A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29293958
NCBI chr 6:49,429,675...49,678,376
Ensembl chr 6:49,497,939...49,693,665
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CGA
glycoprotein hormones, alpha polypeptide
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16483355
NCBI chr12:46,610,801...46,629,322
Ensembl chr12:46,610,973...46,636,640
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DICER1
dicer 1, ribonuclease III
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22381205
NCBI chr 8:63,970,245...64,029,438
Ensembl chr 8:63,972,027...64,019,879
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ESR1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20833731
NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544
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FAM83F
family with sequence similarity 83 member F
ISO
ClinVar Annotator: match by term: Oligozoospermia
ClinVar
PMID:25741868
NCBI chr10:25,106,663...25,140,989
Ensembl chr10:25,108,003...25,140,989
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FSHB
follicle stimulating hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4607150
NCBI chr21:50,279,320...50,282,843
Ensembl chr21:50,280,208...50,282,680
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KIF3B
kinesin family member 3B
ISO
ClinVar Annotator: match by term: Oligospermia
ClinVar
NCBI chr24:21,661,730...21,706,839
Ensembl chr24:21,661,059...21,802,815
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LOC486307
piwi-like protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20940137
NCBI chr26:17,035,530...17,063,177
Ensembl chr26:17,036,963...17,061,992
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MSH4
mutS homolog 4
ISO
ClinVar Annotator: match by term: Oligospermia
ClinVar
PMID:25741868 PMID:33448284
NCBI chr 6:70,745,777...70,822,507
Ensembl chr 6:70,746,634...70,823,004
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NOS3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29983398
NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
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NR0B1
nuclear receptor subfamily 0 group B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23384712
NCBI chr X:25,396,527...25,401,587
Ensembl chr X:25,396,527...25,401,715
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PIWIL4
piwi like RNA-mediated gene silencing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20940137
NCBI chr21:6,319,986...6,391,149
Ensembl chr21:6,319,987...6,366,787
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PNLDC1
PARN like ribonuclease domain containing exonuclease 1
ISO
ClinVar Annotator: match by term: Oligospermia
ClinVar
PMID:25741868
NCBI chr 1:49,045,153...49,063,008
Ensembl chr 1:49,044,979...49,062,802
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TBC1D25
TBC1 domain family member 25
ISO
ClinVar Annotator: match by term: Oligospermia
ClinVar
NCBI chr X:41,782,774...41,799,083
Ensembl chr X:41,782,671...41,798,828
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TPCN1
two pore segment channel 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24451262
NCBI chr26:10,599,898...10,662,269
Ensembl chr26:10,599,780...10,660,767
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YTHDC2
YTH N6-methyladenosine RNA binding protein C2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:34822792
NCBI chr11:3,537,571...3,613,455
Ensembl chr11:3,536,854...3,612,282
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M1AP
meiosis 1 associated protein
ISO
ClinVar Annotator: match by term: Cryptozoospermia
ClinVar
PMID:25741868 PMID:32673564
NCBI chr17:48,510,569...48,588,589
Ensembl chr17:48,510,094...48,587,547
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SYCP2
synaptonemal complex protein 2
ISO
ClinVar Annotator: match by term: Cryptozoospermia
ClinVar
PMID:25741868 PMID:31866047
NCBI chr24:44,471,516...44,546,501
Ensembl chr24:44,471,828...44,546,495
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TRIM71
tripartite motif containing 71
ISO
ClinVar Annotator: match by term: Cryptozoospermia
ClinVar
PMID:25741868
NCBI chr23:3,888,287...3,959,910
Ensembl chr23:3,893,647...3,960,411
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FSHB
follicle stimulating hormone subunit beta
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 24 without anosmia
OMIM ClinVar
PMID:4344039 PMID:8220432 PMID:9271483 PMID:9280841 PMID:9624193 PMID:9806482 PMID:12161499 PMID:20488225 PMID:22791757 PMID:25052309 PMID:25741868 PMID:28392474 PMID:28492532 PMID:32242295 More...
NCBI chr21:50,279,320...50,282,843
Ensembl chr21:50,280,208...50,282,680
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AGFG1
ArfGAP with FG repeats 1
ISO
MouseDO
NCBI chr25:40,229,732...40,307,277
Ensembl chr25:40,243,734...40,301,135
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CCDC157
coiled-coil domain containing 157
ISO
MouseDO
NCBI chr26:23,504,167...23,520,311
Ensembl chr26:23,504,882...23,518,927
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CFAP58
cilia and flagella associated protein 58
ISO
MouseDO
NCBI chr28:16,653,212...16,752,229
Ensembl chr28:16,653,208...16,751,838
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CFAP61
cilia and flagella associated protein 61
ISO
MouseDO
NCBI chr24:3,018,791...3,294,646
Ensembl chr24:3,018,781...3,287,597
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CFAP70
cilia and flagella associated protein 70
ISO
MouseDO
NCBI chr 4:23,830,335...23,926,922
Ensembl chr 4:23,830,336...23,924,350
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MLX
MAX dimerization protein MLX
ISO
MouseDO
NCBI chr 9:20,391,762...20,395,792
Ensembl chr 9:20,391,762...20,395,735
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POC1B
POC1 centriolar protein B
ISO
MouseDO
NCBI chr15:30,388,351...30,481,294
Ensembl chr15:30,382,033...30,483,135
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PPP4C
protein phosphatase 4 catalytic subunit
ISO
MouseDO
NCBI chr 6:18,085,048...18,092,861
Ensembl chr 6:18,085,116...18,092,854
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SPATA20
spermatogenesis associated 20
ISO
MouseDO
NCBI chr 9:26,468,931...26,476,218
Ensembl chr 9:26,468,208...26,476,211
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PGK1
phosphoglycerate kinase 1
ISO
ClinVar Annotator: match by term: Male infertility due to obstructive azoospermia
ClinVar
NCBI chr X:60,374,743...60,396,244
Ensembl chr X:60,374,754...60,423,947
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