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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:Premature Infant Diseases
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Accession:DOID:9004676 term browser browse the term
Definition:Diseases that occur in PREMATURE INFANTS.
Synonyms:primary_id: MESH:D007235
 alt_id: RDO:0001787
For additional species annotation, visit the Alliance of Genome Resources.


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Premature Infant Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:14657821 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
ClinVar Annotator: match by OMIM:610978
DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human)
DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human)
DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human)
DNA:missense mutation exon:p.L224R (c.671T>G) (human)
OMIM
ClinVar
PMID:11854318, PMID:11854319, PMID:12891678, PMID:15289765, PMID:15955952, PMID:17220277, PMID:18788921, PMID:19176457, PMID:19336474, PMID:24555207, PMID:25326635, PMID:25741868, PMID:28492532, PMID:29538355, PMID:23911641, PMID:23379327, PMID:18788921, PMID:26839702 RGD:12914768, RGD:12914769, RGD:11073166, RGD:12914770 NCBI chr 6:77,418,096...77,423,383
Ensembl chr 6:77,418,096...77,421,286
JBrowse link
Bronchopulmonary Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bax BCL2 associated X, apoptosis regulator IEP RGD PMID:26431790 RGD:11537057 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bid BH3 interacting domain death agonist IEP RGD PMID:26431790 RGD:11537057 NCBI chr 4:153,439,812...153,465,247
Ensembl chr 4:153,442,218...153,465,203
JBrowse link
G Casp3 caspase 3 IEP RGD PMID:26431790 RGD:11537057 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp8 caspase 8 IEP RGD PMID:26431790 RGD:11537057 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Casp9 caspase 9 IEP RGD PMID:26431790 RGD:11537057 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
JBrowse link
G Cat catalase IDA RGD PMID:19693467 RGD:5130750 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccl7 C-C motif chemokine ligand 7 ISO RGD PMID:16888287 RGD:5130981 NCBI chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
JBrowse link
G Cd209 CD209 molecule ISO RGD PMID:20050784 RGD:5131185 NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
JBrowse link
G Cd209c CD209c molecule ISO RGD PMID:20050784 RGD:5131185 NCBI chr12:2,837,991...2,846,709
Ensembl chr12:2,838,128...2,843,772
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:decreased secretion:lung, secretion (human) RGD PMID:20558631 RGD:4892651 NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP RGD PMID:19951473 RGD:5134972 NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
JBrowse link
G Dag1 dystroglycan 1 ISO DNA:SNP: :p.N494H (human) RGD PMID:17196572 RGD:11537474 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
G Edn1 endothelin 1 IEP protein:increased expression:lung (rat) RGD PMID:20647310 RGD:4144841 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Epas1 endothelial PAS domain protein 1 treatment IEP RGD PMID:23065129 RGD:10395385 NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO RGD PMID:22003089 RGD:10402122 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion, haplotype:: (human) RGD PMID:24120392 RGD:12792215 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism:exon:p.I105V (human) RGD PMID:14726935 RGD:4142520 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion, haplotype:: (human) RGD PMID:24120392 RGD:12792215 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha treatment IEP RGD PMID:23065129, PMID:26431790 RGD:10395385, RGD:11537057 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:lung
CTD Direct Evidence: marker/mechanism
CTD PMID:16813970, PMID:15539764 RGD:4143172 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO protein:increased expression:lung
associated with Premature Birth;DNA:polymorphism::
RGD PMID:15539764, PMID:22882323 RGD:4143172, RGD:12910846 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO associated with Premature Birth;DNA:polymorphism:exon: RGD PMID:22882323 RGD:12910846 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mif macrophage migration inhibitory factor ISO associated with Respiratory Distress Syndrome, Newborn; protein:increased expression:lung RGD PMID:18097062 RGD:4891007 NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:19097983 RGD:5129685 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Muc1 mucin 1, cell surface associated severity ISO protein:increased expression:cord plasma RGD PMID:18025794 RGD:5131170 NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
JBrowse link
G Postn periostin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363622 NCBI chr 2:143,656,820...143,688,087
Ensembl chr 2:143,656,793...143,688,087
JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 ISO RGD PMID:11435254 RGD:5144211 NCBI chr 1:225,279,698...225,283,246
Ensembl chr 1:225,279,676...225,283,326
JBrowse link
G Serpine1 serpin family E member 1 ISO associated with Premature Birth;protein:increased expression:blood: RGD PMID:25140773 RGD:13208551 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Sftpa1 surfactant protein A1 susceptibility ISO DNA:snps, haplotypes:multiple (human)
DNA:polymorphisms, haplotype: (human)
RGD PMID:17264398, PMID:11105614 RGD:4143384, RGD:4144876 NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
JBrowse link
G Sftpb surfactant protein B susceptibility ISO DNA:deletion:intron (human)
DNA:polymorphism:intron (human)
RGD PMID:15102713, PMID:12424586, PMID:17264398 RGD:4143405, RGD:4143418, RGD:4143384 NCBI chr 4:100,166,855...100,175,941
Ensembl chr 4:100,166,863...100,175,938
JBrowse link
G Sftpd surfactant protein D ISO RGD PMID:17264398 RGD:4143384 NCBI chr16:18,753,535...18,766,100
Ensembl chr16:18,745,458...18,766,174
JBrowse link
G Tnf tumor necrosis factor severity
no_association
ISO DNA:SNP:promoter:-238A>G (human)
DNA:SNP:promoter:-308G>A (human)
RGD PMID:15286263, PMID:15286263 RGD:12904049, RGD:12904049 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tp53 tumor protein p53 IEP RGD PMID:26431790 RGD:11537057 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Txn1 thioredoxin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20812253 NCBI chr 5:75,049,735...75,057,731
Ensembl chr 5:75,049,747...75,057,752
JBrowse link
G Vdr vitamin D receptor susceptibility ISO associated with Premature Birth;DNA:SNPs: :rs2228570,rs731236(human) RGD PMID:24796371 RGD:13432055 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
CHITAYAT SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: CHITAYAT SYNDROME ClinVar
OMIM
PMID:8418638, PMID:27738187 NCBI chr 1:82,112,449...82,120,902
Ensembl chr 1:82,112,449...82,120,902
JBrowse link
distal spinal muscular atrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 1
ClinVar Annotator: match by OMIM:604320
ClinVar
OMIM
PMID:234316, PMID:1461881, PMID:11528396, PMID:14506069, PMID:14681881, PMID:15108294, PMID:15248100, PMID:15503272, PMID:15599641, PMID:15797190, PMID:16765827, PMID:16964485, PMID:17431882, PMID:18802676, PMID:19157874, PMID:19158098, PMID:20031928, PMID:21353777, PMID:21902652, PMID:22157136, PMID:22791546, PMID:23449687, PMID:23566544, PMID:23806086, PMID:23929295, PMID:24022109, PMID:24033266, PMID:24088041, PMID:24388491, PMID:24922459, PMID:25326635, PMID:25439726, PMID:25454169, PMID:25568292, PMID:25741868, PMID:26136520, PMID:26257172, PMID:26298607, PMID:26392352, PMID:26467025, PMID:26709713, PMID:26922252, PMID:27450922, PMID:28065684, PMID:28202949, PMID:28251916, PMID:28397221, PMID:28492532, PMID:28902413, PMID:29858556, PMID:30311386, PMID:30598237, PMID:11528396 RGD:737748 NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142
JBrowse link
Hyaline Membrane Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpine1 serpin family E member 1 ISO RGD PMID:8981909 RGD:4144850 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Sftpa1 surfactant protein A1 ISO ClinVar Annotator: match by term: Respiratory distress associated with prematurity ClinVar PMID:24033266, PMID:25741868 NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
JBrowse link
G Sftpc surfactant protein C ISO RGD PMID:9655740 RGD:4143444 NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
JBrowse link
Ichthyosis Prematurity Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc27a4 solute carrier family 27 member 4 ISO ClinVar Annotator: match by term: Ichthyosis prematurity syndrome
ClinVar Annotator: match by OMIM:608649
OMIM
ClinVar
PMID:19631310 NCBI chr 3:8,363,937...8,376,858
Ensembl chr 3:8,363,937...8,376,858
JBrowse link
Kniest dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Kniest dysplasia
ClinVar Annotator: match by OMIM:156550
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:4014370, PMID:4214536, PMID:7752132, PMID:7849719, PMID:7874117, PMID:7981752, PMID:8325895, PMID:9066888, PMID:9101290, PMID:9468540, PMID:10406661, PMID:11297324, PMID:12995812, PMID:23188137, PMID:25741868, PMID:28492532 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
Kniest Like Dysplasia Lethal term browser
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:11279527, PMID:24088041, PMID:24781210, PMID:25504735, PMID:25741868, PMID:25803036, PMID:26467025, PMID:26508570, PMID:26633545, PMID:28242392, PMID:28492532, PMID:29271572, PMID:29901129, PMID:30311386 NCBI chr 5:155,812,096...155,913,751 JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 5:155,914,517...155,922,269
Ensembl chr 5:155,914,735...155,916,893
JBrowse link
newborn respiratory distress syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase susceptibility ISO DNA:haplotype: : RGD PMID:22574884 RGD:8655661 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISS OMIM:267450 MouseDO NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA:increased expression:blood cells RGD PMID:18301921 RGD:4145353 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO
IEP
protein:increased expression:lung (mouse)
associated with Reperfusion Injury; mRNA, protein:increased expression:lung (rat)
RGD PMID:20888423, PMID:19837405 RGD:4145440, RGD:4145493 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Mbl2 mannose binding lectin 2 disease_progression ISO RGD PMID:25879044 RGD:12910849 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Megf10 multiple EGF-like domains 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22101682 NCBI chr18:52,215,652...52,366,212
Ensembl chr18:52,215,682...52,366,238
JBrowse link
G Mif macrophage migration inhibitory factor ISO RGD PMID:18097062 RGD:4891007 NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISS OMIM:267450 MouseDO NCBI chr18:55,951,497...56,014,107
Ensembl chr18:55,955,389...55,992,885
JBrowse link
G Npsr1 neuropeptide S receptor 1 ISO RGD PMID:16938805 RGD:4891932 NCBI chr 8:25,246,174...25,483,582
Ensembl chr 8:25,246,292...25,482,647
JBrowse link
G Sftpa1 surfactant protein A1 susceptibility ISO
IEP
DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human)
protein:increased expression:lung
RGD PMID:11063734, PMID:11504697 RGD:4143433, RGD:4143428 NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
JBrowse link
G Sftpb surfactant protein B susceptibility ISO
IEP
DNA:polymorphism:intron (human)
DNA:polymorphism: :p.T131I (human)
mRNA, protein:decreased expression:lung
RGD PMID:12490037, PMID:7832777, PMID:11063734, PMID:11504697, PMID:12424586, PMID:18353230 RGD:4143416, RGD:4143455, RGD:4143433, RGD:4143428, RGD:4143418, RGD:4143376 NCBI chr 4:100,166,855...100,175,941
Ensembl chr 4:100,166,863...100,175,938
JBrowse link
G Sftpc surfactant protein C IEP
ISO
mRNA, protein:decreased expression:lung
protein:altered processing:amniotic fluid, lung
RGD PMID:11504697, PMID:7537464 RGD:4143428, RGD:4144127 NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
JBrowse link
G Sftpd surfactant protein D susceptibility ISO
IEP
DNA:SNP: :p.A160T (human)
protein:increased expression:lung
RGD PMID:17524024, PMID:11504697 RGD:4143507, RGD:4143428 NCBI chr16:18,753,535...18,766,100
Ensembl chr16:18,745,458...18,766,174
JBrowse link
G Sod1 superoxide dismutase 1 susceptibility ISO DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human) RGD PMID:22574884 RGD:8655661 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism CTD PMID:10789933 NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
JBrowse link
G Vegfa vascular endothelial growth factor A ISS OMIM:267450 MouseDO NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
Oxygen-Induced Retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing treatment ISO RGD PMID:19342600 RGD:7394795 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Amigo2 adhesion molecule with Ig like domain 2 treatment ISO RGD PMID:26553931 RGD:14392781 NCBI chr 7:138,704,124...138,707,221
Ensembl chr 7:138,704,126...138,707,221
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment ISO
IDA
mRNA:increased expression:retina (mouse) RGD PMID:16710171, PMID:19038868 RGD:8548878, RGD:11526145 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Csnk2a1 casein kinase 2 alpha 1 ISO RGD PMID:16651637 RGD:11565123 NCBI chr 3:147,713,808...147,760,375
Ensembl chr 3:147,713,821...147,757,862
JBrowse link
G Csnk2a2 casein kinase 2 alpha 2 ISO RGD PMID:16651637 RGD:11565123 NCBI chr19:9,972,537...10,012,043
Ensembl chr19:9,972,537...10,012,043
JBrowse link
G Csnk2b casein kinase 2 beta ISO RGD PMID:16651637 RGD:11565123 NCBI chr20:5,108,692...5,113,675
Ensembl chr20:5,106,890...5,113,112
JBrowse link
G Fas Fas cell surface death receptor ISO mRNA:increased expression:retina RGD PMID:17102953 RGD:12903974 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand ISO RGD PMID:17102953 RGD:12903974 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide IEP RGD PMID:21642627 RGD:12904963 NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
JBrowse link
G Ghsr growth hormone secretagogue receptor treatment IMP RGD PMID:21642627 RGD:12904963 NCBI chr 2:113,065,953...113,071,265
Ensembl chr 2:113,066,885...113,070,261
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha treatment ISO mRNA:increased expression:retina (mouse) RGD PMID:18087198, PMID:20220049 RGD:8695923, RGD:9068455 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hmgb1 high mobility group box 1 treatment ISO RGD PMID:24371837 RGD:10402057 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:decreased expression:serum (rat) RGD PMID:18344903 RGD:12910457 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Kdr kinase insert domain receptor treatment IEP
IMP
RGD PMID:17349140, PMID:15951738 RGD:8549715, RGD:1581593 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:19433784 RGD:10412674 NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein IEP mRNA:decreased expression:retina: RGD PMID:21350694 RGD:10401135 NCBI chr 8:128,824,420...128,854,492
Ensembl chr 8:128,824,508...128,850,358
JBrowse link
G Ndp norrin cystine knot growth factor NDP treatment ISO RGD PMID:20053900 RGD:8694208 NCBI chr  X:6,791,090...6,815,586
Ensembl chr  X:6,791,136...6,815,583
Ensembl chr  X:6,791,136...6,815,583
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO protein:decreased expression:retina (mouse) RGD PMID:18806296 RGD:2301844 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Ptafr platelet-activating factor receptor treatment IMP RGD PMID:12356842 RGD:10041062 NCBI chr 5:150,746,284...150,775,675
Ensembl chr 5:150,754,021...150,775,672
JBrowse link
G Ptger3 prostaglandin E receptor 3 IEP protein:increased expression:retina (rat) RGD PMID:12821538 RGD:9850261 NCBI chr 2:263,895,093...263,979,682
Ensembl chr 2:263,895,241...263,979,698
JBrowse link
G Serpine1 serpin family E member 1 treatment
severity
ISO
IEP
mRNA, protein:increased expression:retina (mouse) RGD PMID:19443721, PMID:11133880, PMID:19443721 RGD:8547749, RGD:13208592, RGD:8547749 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Serpinf1 serpin family F member 1 treatment
susceptibility
ISO
IEP
human gene in a mouse model
mRNA, protein:decreased expression:retina (rat)
RGD PMID:21281801, PMID:11916948 RGD:8554878, RGD:8655544 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Sod1 superoxide dismutase 1 ISO RGD PMID:16741961 RGD:8655606 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO RGD PMID:16303927 RGD:8694296 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:15681845, PMID:19342600 RGD:7394799, RGD:7394795 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vegfa vascular endothelial growth factor A IEP mRNA:increased expression:retina: RGD PMID:15303088 RGD:7483624 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
periventricular leukomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Periventricular leukomalacia ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Periventricular leukomalacia ClinVar PMID:23020937, PMID:23934111, PMID:25740509, PMID:25741868, PMID:26350515, PMID:28135719, PMID:28492532, PMID:28628100, PMID:29655203, PMID:30311386, PMID:30578330 NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
JBrowse link
G Mbp myelin basic protein IEP protein:decreased expression:brain: RGD PMID:23614640 RGD:7327203 NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
JBrowse link
G Mcoln1 mucolipin 1 ISO ClinVar Annotator: match by term: Periventricular leukomalacia ClinVar PMID:30311386 NCBI chr12:2,054,629...2,068,682
Ensembl chr12:2,054,680...2,068,682
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO RGD PMID:21596035 RGD:5683904 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Periventricular leukomalacia ClinVar PMID:25741868 NCBI chr13:85,465,015...85,559,113
Ensembl chr13:85,465,792...85,559,087
JBrowse link
G Tnf tumor necrosis factor IDA
ISO
RGD PMID:15765524, PMID:8652010 RGD:1580604, RGD:12904655 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
retinopathy of prematurity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb3 adrenoceptor beta 3 ISO protein:increased expression:retina (mouse) RGD PMID:20739470 RGD:5684355 NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387897 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Angpt2 angiopoietin 2 susceptibility IDA
IEP
ISO
protein:increased expression:retina (rat)
mRNA:increased expression:retina (mouse)
RGD PMID:17692314, PMID:17692314, PMID:17065527 RGD:2314205, RGD:2314205, RGD:2314207 NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
JBrowse link
G Epo erythropoietin IEP protein:decreased expression:retina: RGD PMID:24630601 RGD:11041658 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Epor erythropoietin receptor IEP protein:increased expression,increased activity:retina: RGD PMID:24630601 RGD:11041658 NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO RGD PMID:21731737 RGD:5684426 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Fzd4 frizzled class receptor 4 ISO ClinVar Annotator: match by null ClinVar PMID:15733276 NCBI chr 1:153,589,471...153,598,376
Ensembl chr 1:153,589,471...153,598,375
JBrowse link
G Hgf hepatocyte growth factor ISO RGD PMID:10751359 RGD:8548546 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP mRNA:increased expression:retina (rat) RGD PMID:20368504 RGD:4145427 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Igf1 insulin-like growth factor 1 no_association ISO
IEP
protein:decreased expression:serum:
mRNA:decreased expression:retina
RGD PMID:20085549, PMID:20214047, PMID:16500767 RGD:8548825, RGD:8548867, RGD:8548852 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO associated with Obstetric Labor, Premature; protein:decreased expression:plasma: RGD PMID:23202391 RGD:12743584 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Ihh Indian hedgehog signaling molecule ISO DNA:SNP RGD PMID:18787502 RGD:12910978 NCBI chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440
JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:vitreous humor RGD PMID:19700197 RGD:7364863 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il1b interleukin 1 beta IDA RGD PMID:23113620 RGD:7204128 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Kdr kinase insert domain receptor ISO
IEP
mRNA:increased expression:retina
associated with premature birth;protein:increased expression:plasma:
RGD PMID:21731737, PMID:15039215, PMID:18408080 RGD:5684426, RGD:8549753, RGD:8549746 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Ndp norrin cystine knot growth factor NDP severity ISO DNA:missense mutations:exon:p.R121W, p.L108P (human) RGD PMID:9152134 RGD:8694210 NCBI chr  X:6,791,090...6,815,586
Ensembl chr  X:6,791,136...6,815,583
Ensembl chr  X:6,791,136...6,815,583
JBrowse link
G Nos1 nitric oxide synthase 1 IEP protein:increased expression:retina RGD PMID:23204802 RGD:7257667 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased expression:retina RGD PMID:23204802 RGD:7257667 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 severity ISO DNA:duplication:intron:IVS4?-?+27 (human) RGD PMID:18334945 RGD:7771560 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Retinopathy of prematurity ClinVar PMID:15733276 NCBI chr 1:153,732,528...153,742,111
Ensembl chr 1:153,732,532...153,752,541
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO DNA:polymorphisms:cds:HLA-B*38 (human) RGD PMID:24033735 RGD:7365093
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :HLA-DRB1*09, HLA-DRB1*14(human) RGD PMID:24033735 RGD:7365093 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Serpine1 serpin family E member 1 ISO human protein in a rat model RGD PMID:14638747 RGD:8547810 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Serpinf1 serpin family F member 1 IEP mRNA, protein:increased expression:retina (rat) RGD PMID:21738387 RGD:8655555 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Sod1 superoxide dismutase 1 susceptibility ISO DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human) RGD PMID:22958044 RGD:8655635 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:subretinal fluid: RGD PMID:10751359 RGD:8548546 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Infant, Newborn, Diseases 546
          Premature Infant Diseases 95
            Bronchopulmonary Dysplasia 35
            Ichthyosis Prematurity Syndrome 1
            newborn respiratory distress syndrome + 23
            periventricular leukomalacia 7
            retinopathy of prematurity + 45
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.