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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Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Igf2
insulin like growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12087403
NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566
G
Prss8
serine protease 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24722141
NCBI chrNW_004955493:7,970,929...7,976,885
Ensembl chrNW_004955493:7,971,609...7,976,666
G
Spint2
serine peptidase inhibitor, Kunitz type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24722141
NCBI chrNW_004955468:1,142,718...1,181,210
Ensembl chrNW_004955468:1,143,118...1,169,632
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16007645
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ager
advanced glycosylation end-product specific receptor
ISO
RGD
PMID:22578261
RGD:6767308
NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479
G
Fas
Fas cell surface death receptor
ISO
protein:increased expression:villous trophoblast
RGD
PMID:12700199
RGD:12904022
NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
G
Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21493953
NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
G
Il6
interleukin 6
ISO
associated with Premature Birth;protein:increased expression:tracheal aspirate fluid: protein:increased expression: cervicovaginal fluid : protein:increased expression:plasma
RGD
PMID:15547537 PMID:25011638 PMID:25687566
RGD:12791291 RGD:12792243 RGD:5128667
NCBI chrNW_004955410:25,079,835...25,084,390
G
Lta
lymphotoxin alpha
severity
ISO
associated with Premature Birth;DNA:SNP:promoter:250G>A (human)
RGD
PMID:15128916
RGD:12904055
NCBI chrNW_004955437:114,216...116,003
Ensembl chrNW_004955437:114,640...115,529
G
Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:polymorphism:exon:p.G54D(human)
RGD
PMID:15723707
RGD:12910932
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
G
Mmp9
matrix metallopeptidase 9
severity
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:12712078
RGD:13204828
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
G
Tgfb1
transforming growth factor beta 1
severity
ISO
protein:increased expression:amniotic fluid
RGD
PMID:19332995
RGD:4145137
NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
G
Tnf
tumor necrosis factor
severity no_association
ISO
associated with Premature Birth;DNA:SNP:promoter:c.-238G>A (human) associated with Premature Birth;DNA:SNP:promoter:c.-308 G>A (human)
RGD
PMID:15128916
RGD:12904055
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Fgf8
fibroblast growth factor 8
ISO
protein:increased expression:testicular germ cell neoplasms
RGD
PMID:11764380
RGD:2289339
NCBI chrNW_004955485:8,517,412...8,521,732
Ensembl chrNW_004955485:8,517,412...8,521,770
G
Igf2
insulin like growth factor 2
disease_progression
ISO
protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR
RGD
PMID:17556377
RGD:2290454
NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566
G
Insr
insulin receptor
disease_progression
ISO
protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR
RGD
PMID:17556377
RGD:2290454
NCBI chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149
G
Pdgfb
platelet derived growth factor subunit B
ISO
mRNA:increased expression:mononuclear cytotrophoblast cell
RGD
PMID:8504434
RGD:2292200
NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987
G
Pdgfrb
platelet derived growth factor receptor beta
ISO
mRNA:increased expression:mononuclear cytotrophoblast cell
RGD
PMID:8504434
RGD:2292200
NCBI chrNW_004955415:4,365,848...4,403,317
Ensembl chrNW_004955415:4,365,743...4,403,587
G
Timp3
TIMP metallopeptidase inhibitor 3
ISO
DNA, protein:hypermethylation, decreased expression:promoter, placenta
RGD
PMID:15507671
RGD:2290418
NCBI chrNW_004955405:41,613,976...41,655,813
Ensembl chrNW_004955405:41,613,966...41,655,813
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Hspg2
heparan sulfate proteoglycan 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 PMID:20542149 PMID:23836246 PMID:24011702 PMID:24088041 PMID:24781210 PMID:24828792 PMID:25504735 PMID:25741868 PMID:25741881 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:26934580 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29476074 PMID:29620724 PMID:29901129 PMID:29970176 PMID:30362252 PMID:30646882 PMID:30753492 PMID:31127727 PMID:31697823 PMID:32231685 PMID:33652732 PMID:34244600 PMID:34529350 PMID:34906502 PMID:35982159 PMID:36619171 PMID:37784196 PMID:38278647 PMID:39035772 More...
NCBI chrNW_004955452:2,056,428...2,141,937
Ensembl chrNW_004955452:2,057,326...2,120,280
G
Ldlrad2
low density lipoprotein receptor class A domain containing 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:24828792 PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30753492 PMID:32231685 PMID:39035772 More...
NCBI chrNW_004955452:2,031,868...2,057,264
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Agt
angiotensinogen
ISO
ClinVar Annotator: match by term: Anhydramnios
ClinVar
PMID:25741868 PMID:35005812
NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357
G
Dnajb11
DnaJ heat shock protein family (Hsp40) member B11
ISO
ClinVar Annotator: match by term: anhydramnios
ClinVar
PMID:25741868 PMID:35005812
NCBI chrNW_004955420:21,097,292...21,113,053
Ensembl chrNW_004955420:21,097,941...21,112,792
G
Inf2
inverted formin 2
ISO
ClinVar Annotator: match by term: Oligohydramnios
ClinVar
PMID:25741868
NCBI chrNW_004955538:3,154,670...3,176,510
Ensembl chrNW_004955538:3,163,940...3,178,832
G
Nphp3
nephrocystin 3
ISO
ClinVar Annotator: match by term: anhydramnios
ClinVar
PMID:25741868 PMID:35005812
NCBI chrNW_004955501:5,799,879...5,837,022
Ensembl chrNW_004955501:5,799,879...5,837,022
G
Pdgfa
platelet derived growth factor subunit A
ISO
mRNA, protein:increased expression:lung
RGD
PMID:17519529
RGD:2292203
NCBI chrNW_004955460:8,328,400...8,346,755
Ensembl chrNW_004955460:8,326,891...8,346,550
G
Pdgfb
platelet derived growth factor subunit B
ISO
mRNA, protein:increased expression:lung
RGD
PMID:17519529
RGD:2292203
NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987
G
Pdgfra
platelet derived growth factor receptor alpha
ISO
mRNA:increased expression:lung
RGD
PMID:17519529
RGD:2292203
NCBI chrNW_004955447:16,570,652...16,613,410
Ensembl chrNW_004955447:16,569,909...16,612,373
G
Pdgfrb
platelet derived growth factor receptor beta
ISO
mRNA:increased expression:lung
RGD
PMID:17519529
RGD:2292203
NCBI chrNW_004955415:4,365,848...4,403,317
Ensembl chrNW_004955415:4,365,743...4,403,587
G
Pdpn
podoplanin
ISO
mRNA, protein:decreased expression:lung
RGD
PMID:11839536
RGD:2292243
NCBI chrNW_004955527:4,183,639...4,215,200
G
Pkd1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: anhydramnios
ClinVar
PMID:25741868 PMID:35005812
NCBI chrNW_004955442:15,132,555...15,178,377
Ensembl chrNW_004955442:15,145,640...15,178,377
G
Pkd2
polycystin 2, transient receptor potential cation channel
ISO
ClinVar Annotator: match by term: anhydramnios
ClinVar
PMID:25741868 PMID:35005812
NCBI chrNW_004955474:1,831,221...1,868,170
Ensembl chrNW_004955474:1,833,701...1,868,817
G
Pkhd1
PKHD1 ciliary IPT domain containing fibrocystin/polyductin
ISO
ClinVar Annotator: match by term: Oligohydramnios | ClinVar Annotator: match by term: anhydramnios
ClinVar
PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15706593 PMID:15805161 PMID:16133180 PMID:16199545 PMID:19914852 PMID:20413436 PMID:21274727 PMID:25124979 PMID:25741868 PMID:26695994 PMID:27225849 PMID:28375157 PMID:28492532 PMID:30773290 PMID:32574212 PMID:32799815 PMID:33532864 PMID:35005812 More...
NCBI chrNW_004955411:5,988,100...6,434,369
Ensembl chrNW_004955411:5,990,316...6,432,301
G
Tmem67
transmembrane protein 67
ISO
ClinVar Annotator: match by term: Oligohydramnios | ClinVar Annotator: match by term: anhydramnios
ClinVar
PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28492532 PMID:35005812 More...
NCBI chrNW_004955417:10,097,488...10,137,959
Ensembl chrNW_004955417:10,097,472...10,138,644
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Bhmt
betaine--homocysteine S-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17376725
NCBI chrNW_004955425:21,992,219...22,009,389
Ensembl chrNW_004955425:21,991,665...22,009,855
G
Mthfd1
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15633187
NCBI chrNW_004955466:5,422,141...5,485,773
Ensembl chrNW_004955466:5,420,702...5,485,773
G
Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11354626
NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
G
Proc
protein C, inactivator of coagulation factors Va and VIIIa
susceptibility
ISO
RGD
PMID:9855597
RGD:11564329
NCBI chrNW_004955459:3,097,229...3,105,566
Ensembl chrNW_004955459:3,094,120...3,104,135
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Agtr1
angiotensin II receptor type 1
ISO
mRNA, protein:increased expression:placenta
RGD
PMID:20621762
RGD:5147460
NCBI chrNW_004955474:8,733,942...8,781,305
Ensembl chrNW_004955474:8,733,942...8,781,255
G
Emp2
epithelial membrane protein 2
ISO
MouseDO
NCBI chrNW_004955442:7,826,967...7,862,035
Ensembl chrNW_004955442:7,826,738...7,860,028
G
Epo
erythropoietin
treatment
ISO
RGD
PMID:20809703
RGD:10400897
NCBI chrNW_004955573:203,875...206,078
Ensembl chrNW_004955573:203,441...206,355
G
Gjb3
gap junction protein beta 3
ISO
RGD
PMID:11237463
RGD:12436730
NCBI chrNW_004955452:12,892,687...12,896,290
Ensembl chrNW_004955452:12,892,687...12,896,290
G
Grin1
glutamate ionotropic receptor NMDA type subunit 1
ISO
mRNA, protein:altered expression:hippocampus (rat)
RGD
PMID:19144756
RGD:2326049
NCBI chrNW_004955513:5,154,864...5,178,636
Ensembl chrNW_004955513:5,154,864...5,178,636
G
Grin2a
glutamate ionotropic receptor NMDA type subunit 2A
ISO
protein:decreased expression:hippocampus (rat)
RGD
PMID:19144756
RGD:2326049
NCBI chrNW_004955442:8,171,114...8,565,187
Ensembl chrNW_004955442:8,174,232...8,562,059
G
Grin2b
glutamate ionotropic receptor NMDA type subunit 2B
ISO
protein:increased expression:hippocampus (rat)
RGD
PMID:19144756
RGD:2326049
NCBI chrNW_004955413:10,358,931...10,780,004
Ensembl chrNW_004955413:10,376,597...10,779,145
G
Itga2
integrin subunit alpha 2
ISO
mRNA:decreased expression:placenta (rat)
RGD
PMID:20621762
RGD:5147460
NCBI chrNW_004955446:14,309,516...14,421,991
Ensembl chrNW_004955446:14,309,349...14,422,170
G
LOC102023780
aromatase
ISO
mRNA, protein:altered expression:hippocampus (rat)
RGD
PMID:20662593
RGD:4890445
NCBI chrNW_004955409:3,198,622...3,313,072
Ensembl chrNW_004955409:3,266,233...3,313,142
G
Pdx1
pancreatic and duodenal homeobox 1
ISO
mRNA:increased expression:placenta (rat)
RGD
PMID:17893880
RGD:2311215
NCBI chrNW_004955497:7,281,886...7,307,969
G
Ppargc1a
PPARG coactivator 1 alpha
ISO
mRNA, protein:decreased expression:gastrocnemius muscle (rat)
RGD
PMID:18319353
RGD:10059693
NCBI chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435
G
Serpine1
serpin family E member 1
ISO
protein:increased expression:plasma:
RGD
PMID:26903689
RGD:11557202
NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Gpc3
glypican 3
ISO
protein:increased expression:placenta, trophoblast cells (human)
RGD
PMID:20868507
RGD:243065141
NCBI chrNW_004955473:969,627...1,431,706
Ensembl chrNW_004955473:969,800...1,431,483
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Polyhydramnios
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 More...
NCBI chrNW_004955414:32,216,243...32,289,028
Ensembl chrNW_004955414:32,216,196...32,289,053
G
Gldn
gliomedin
ISO
ClinVar Annotator: match by term: Polyhydramnios
ClinVar
PMID:25741868 PMID:27616481 PMID:28726266 PMID:31680349 PMID:32812332
NCBI chrNW_004955409:3,128,718...3,179,083
Ensembl chrNW_004955409:3,128,684...3,179,083
G
Hyls1
HYLS1 centriolar and ciliogenesis associated
ISO
ClinVar Annotator: match by term: Polyhydramnios
ClinVar
PMID:25741868 PMID:27055666 PMID:28492532 PMID:31444731 PMID:31680349 PMID:34415064 More...
NCBI chrNW_004955412:26,937,460...26,949,571
Ensembl chrNW_004955412:26,937,654...26,951,636
G
Igf2
insulin like growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9349812
NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566
G
Kcnq1
potassium voltage-gated channel subfamily Q member 1
ISO
ClinVar Annotator: match by term: Polyhydramnios
ClinVar
PMID:1984130 PMID:2654361 PMID:15781747 PMID:15840476 PMID:19632626 PMID:19716085 PMID:19841300 PMID:20301308 PMID:22581653 PMID:22949429 PMID:23392653 PMID:24033266 PMID:24947509 PMID:25741868 PMID:25854863 PMID:26546361 PMID:27831900 PMID:28438721 PMID:28492532 PMID:31447099 PMID:32893267 PMID:34135346 PMID:34404389 PMID:34798354 PMID:35352813 PMID:36102233 More...
NCBI chrNW_004955422:14,212,563...14,544,556
Ensembl chrNW_004955422:14,212,553...14,544,556
G
Lnpep
leucyl and cystinyl aminopeptidase
ISO
associated with Diabetes Mellitus
RGD
PMID:1789335
RGD:2311543
NCBI chrNW_004955418:15,631,703...15,718,711
Ensembl chrNW_004955418:15,640,143...15,718,711
G
Piezo1
piezo type mechanosensitive ion channel component 1 (Er blood group)
ISO
ClinVar Annotator: match by term: Polyhydramnios
ClinVar
PMID:25741868 PMID:28492532 PMID:30244526 PMID:31680349 PMID:36484990
NCBI chrNW_004955541:2,618,167...2,655,349
Ensembl chrNW_004955541:2,618,438...2,643,771
G
Pus3
pseudouridine synthase 3
ISO
ClinVar Annotator: match by term: Polyhydramnios
ClinVar
PMID:25741868 PMID:27055666 PMID:28492532 PMID:31444731 PMID:31680349 PMID:34415064 More...
NCBI chrNW_004955412:26,941,837...26,951,524
Ensembl chrNW_004955412:26,942,082...26,945,624
G
Slc26a3
solute carrier family 26 member 3
ISO
ClinVar Annotator: match by term: Polyhydramnios
ClinVar
PMID:9718329 PMID:21394828 PMID:25741868 PMID:28492532 PMID:31680349 PMID:33191723 PMID:34503561 More...
NCBI chrNW_004955410:12,102,356...12,128,620
Ensembl chrNW_004955410:12,102,356...12,128,620
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Strada
STE20 related adaptor alpha
ISO
ClinVar Annotator: match by term: PMSE SYNDROME | ClinVar Annotator: match by term: Polyhydramnios, megalencephaly, and symptomatic epilepsy
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17522105 PMID:17576681 PMID:20424326 PMID:25741868 PMID:27170158 PMID:28492532 PMID:29358611 PMID:33605605 PMID:35830182 More...
NCBI chrNW_004955478:8,082,075...8,116,320
Ensembl chrNW_004955478:8,082,075...8,116,543
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all