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: Prenatal Injuries
Accession: DOID:9007023
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Definition: Damages to the EMBRYO, MAMMALIAN or the FETUS before BIRTH. Damages can be caused by any factors including biological, chemical, or physical.
Synonyms: exact_synonym: Prenatal Injury
primary_id: MESH:D049188 ; RDO:0006411
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Ache
acetylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14657522
NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651
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Atp7a
ATPase copper transporting alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25456742
NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
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Lox
lysyl oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20045017
NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
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Loxl1
lysyl oxidase-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20045017
NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356
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Mt1
metallothionein 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12514265
NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049 Ensembl chr17:10,826,032...10,827,049
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Ogg1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24075420
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Prss8
serine protease 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24722141
NCBI chr 1:182,536,229...182,540,745
Ensembl chr 1:182,536,229...182,540,815
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Rock1
Rho-associated coiled-coil containing protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18956198
NCBI chr18:1,114,532...1,236,345
Ensembl chr18:1,115,905...1,235,571
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Rock2
Rho-associated coiled-coil containing protein kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18956198
NCBI chr 6:39,679,116...39,774,033
Ensembl chr 6:39,679,082...39,774,031
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Slc39a4
solute carrier family 39 member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17483098
NCBI chr 7:108,333,368...108,337,553
Ensembl chr 7:108,333,381...108,337,553
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Spint2
serine peptidase inhibitor, Kunitz type, 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24722141
NCBI chr 1:84,558,159...84,580,616
Ensembl chr 1:84,558,166...84,580,616
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Yes1
YES proto-oncogene 1, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24478334
NCBI chr 9:113,200,256...113,275,942
Ensembl chr 9:113,200,256...113,299,837
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Ace
angiotensin I converting enzyme
treatment
IEP
associated with hypertension
RGD
PMID:30127255
RGD:401793709
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ace2
angiotensin converting enzyme 2
treatment
IEP
associated with maternal adenine induced chronic kidney disease
RGD
PMID:32604820
RGD:401793718
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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Adam10
ADAM metallopeptidase domain 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32715474
NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889
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Adh4
alcohol dehydrogenase 4 (class II), pi polypeptide
IEP
mRNA:decreased expression:liver (rat)
RGD
PMID:22781937
RGD:405100969
NCBI chr 2:226,948,717...226,966,747
Ensembl chr 2:226,947,466...226,987,591
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Adora1
adenosine A1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19092996
NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801
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Agt
angiotensinogen
treatment
IEP
associated with maternal adenine induced chronic kidney disease
RGD
PMID:32604820
RGD:401793718
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr1a
angiotensin II receptor, type 1a
treatment
IEP
associated with hypertension
RGD
PMID:30127255
RGD:401793709
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Agtr1b
angiotensin II receptor, type 1b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22728133
NCBI chr 2:102,844,969...102,920,232
Ensembl chr 2:102,844,969...102,920,232
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Agtr2
angiotensin II receptor, type 2
treatment
IEP
associated with maternal adenine induced chronic kidney disease
RGD
PMID:32604820
RGD:401793718
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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Ahr
aryl hydrocarbon receptor
treatment
IEP
associated with hypertension
RGD
PMID:30127255 PMID:31489946
RGD:401793709 , RGD:401793758
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Ahrr
aryl-hydrocarbon receptor repressor
treatment
IEP
associated with hypertension associated with maternal adenine induced chronic kidney disease
RGD
PMID:30127255 PMID:31489946 PMID:32604820
RGD:401793709 , RGD:401793758 , RGD:401793718
NCBI chr 1:28,993,634...29,088,673
Ensembl chr 1:28,993,634...29,088,673
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Ank3
ankyrin 3
susceptibility
ISO
DNA:SNP: : rs9804190(human)
RGD
PMID:27824361
RGD:153344561
NCBI chr20:18,602,267...19,225,831
Ensembl chr20:18,602,786...19,086,300
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Arnt
aryl hydrocarbon receptor nuclear translocator
treatment
IEP
RGD
PMID:31489946
RGD:401793758
NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580
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Asip
agouti signaling protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32937126
NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171
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Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21177254
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Atp6ap2
ATPase H+ transporting accessory protein 2
treatment
IEP
associated with maternal adenine induced chronic kidney disease
RGD
PMID:32604820
RGD:401793718
NCBI chr X:10,183,983...10,210,948
Ensembl chr X:10,183,068...10,210,918
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Bdnf
brain-derived neurotrophic factor
treatment sexual_dimorphism
IEP
associated with alcohol use disorder;mRNA, protein:decreased expression:hippocampus, serum associated with stress-related disorder mRNA:altered expression:hippocampus|hypothalamus (rat)
RGD
PMID:32497709 PMID:25442671 PMID:26180184
RGD:401950485 , RGD:408361837 , RGD:11074449
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Bmp2
bone morphogenetic protein 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:29800642
NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
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Cbs
cystathionine beta synthase
sexual_dimorphism
IEP
mRNA:altered expression:hippocampus|hypothalamus (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
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Ccn2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21258935
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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Creb1
cAMP responsive element binding protein 1
IDA
associated with morphine withdrawal disorder
RGD
PMID:33915201
RGD:401959752
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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Crhr1
corticotropin releasing hormone receptor 1
sexual_dimorphism
IEP
mRNA:altered expr:brain (rat)
RGD
PMID:29990678
RGD:401976282
NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
treatment
IEP
associated with hypertension
RGD
PMID:30127255 PMID:31489946
RGD:401793709 , RGD:401793758
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15570195
NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:22781937
RGD:405100969
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Egr1
early growth response 1
IEP
protein:decreased expression:hippocampus (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19014962
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Fosb
FosB proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26411935
NCBI chr 1:78,954,312...78,961,492
Ensembl chr 1:78,954,115...78,961,465
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Maoa
monoamine oxidase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22340208
NCBI chr X:6,032,172...6,098,308
Ensembl chr X:6,030,795...6,099,593
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Mas1
MAS1 proto-oncogene, G protein-coupled receptor
treatment
IEP
associated with maternal adenine induced chronic kidney disease
RGD
PMID:32604820
RGD:401793718
NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709
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Mat2a
methionine adenosyltransferase 2A
sexual_dimorphism
IEP
mRNA:altered expression:hippocampus|hypothalamus (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chr 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493
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Mthfr
methylenetetrahydrofolate reductase
sexual_dimorphism
IEP
mRNA:altered expression:hippocampus|hypothalamus (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
sexual_dimorphism
IEP
mRNA:altered expression:hippocampus|hypothalamus (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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Myod1
myogenic differentiation 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21258934
NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554
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Nos1
nitric oxide synthase 1
treatment
IEP
RGD
PMID:31489946
RGD:401793758
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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Nos3
nitric oxide synthase 3
treatment
IEP
RGD
PMID:31489946
RGD:401793758
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Notch2
notch receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32715474
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
sexual_dimorphism sexual_dimorphism treatment
IEP IDA
associated with alcohol use disorder;mRNA:decreased expression:hippocampus associated with alcohol use disorder;mRNA:altered expression:prefrontal cortex associated with stress-related disorder DNA, RNA, protein:hypermethylation, decreased expression:promoter, hippocampus associated with alcohol use disorder;mRNA:decreased expression:amygdala associated with alcohol use disorder mRNA:altered expression:brain associated with alcohol use disorder;mRNA:increased expression:hippocampus associated with alcohol use disorder;mRNA:decreased expression:prefrontal cortex
RGD
PMID:26180184 PMID:30367959 PMID:25442671 PMID:28086911 PMID:32497709 PMID:15940294 PMID:31102593 PMID:30741061 PMID:29990678 PMID:29251811 More...
RGD:11074449 , RGD:401966864 , RGD:408361837 , RGD:408345237 , RGD:401950485 , RGD:408345230 , RGD:408345228 , RGD:408345195 , RGD:401976282 , RGD:401965484
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Nr3c2
nuclear receptor subfamily 3, group C, member 2
sexual_dimorphism
IEP
mRNA:altered expression:hippocampus|hypothalamus (rat) associated with females; mRNA:decreased expression:hippocampus (rat) associated with stress-related disorder; mRNA:decreased expression:hippocampus (rat) mRNA:altered expr:brain (rat) associated with chronic stress, female fetus; protein:increased expression:hippocampus, amygdala (rat)
RGD
PMID:26180184 PMID:23579081 PMID:16925589 PMID:29990678 PMID:26342748
RGD:11074449 , RGD:401976414 , RGD:401976289 , RGD:401976282 , RGD:401965481
NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885
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Nrgn
neurogranin
IEP
RGD
PMID:17579784
RGD:9835426
NCBI chr 8:37,255,462...37,263,659
Ensembl chr 8:37,256,930...37,257,516
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Ogg1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18768699
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Per1
period circadian regulator 1
IEP
associated with alcohol use disorder;mRNA:altered expression: arcuate nucleus of hypothalamus, suprachiasmatic nucleus
RGD
PMID:16686691
RGD:405866367
NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431
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Per2
period circadian regulator 2
IEP
associated with alcohol use disorder;mRNA:altered expression: arcuate nucleus of hypothalamus, suprachiasmatic nucleus
RGD
PMID:16686691
RGD:405866367
NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459
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Per3
period circadian regulator 3
IEP
associated with alcohol use disorder;mRNA:altered expression: arcuate nucleus of hypothalamus, suprachiasmatic nucleus
RGD
PMID:16686691
RGD:405866367
NCBI chr 5:161,460,228...161,495,404
Ensembl chr 5:161,459,533...161,495,607
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Pomc
proopiomelanocortin
sexual_dimorphism
IDA IEP
associated with alcohol use disorder;DNA:hypermethylation:hypothalamus, promoter associated with alcohol use disorder;DNA, mRNA:hypermethylation, decreased expression:promoter, hypothalamus associated with alcohol use disorder;mRNA:altered expression: arcuate nucleus of hypothalamus
RGD
PMID:22622000 PMID:35143549 PMID:16686691
RGD:405878080 , RGD:407431645 , RGD:405866367
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25463530 PMID:28396702
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Ppara
peroxisome proliferator activated receptor alpha
treatment
IEP
RGD
PMID:31489946
RGD:401793758
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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Ren
renin
treatment
IEP
associated with hypertension associated with maternal adenine induced chronic kidney disease
RGD
PMID:30127255 PMID:32604820
RGD:401793709 , RGD:401793718
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Sigmar1
sigma non-opioid intracellular receptor 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15451042
NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
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Slc6a4
solute carrier family 6 member 4
sexual_dimorphism
IEP IAGP
mRNA:altered expression:hippocampus|hypothalamus (rat) DNA:altered methylation:hypothalamus (rat)
RGD
PMID:26180184 PMID:26180184
RGD:11074449 , RGD:11074449
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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