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
Accession: DOID:9004676
browse the term
Definition: Diseases that occur in PREMATURE INFANTS.
Synonyms: primary_id: MESH:D007235
alt_id: RDO:0001787
G
Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14657821
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
G
Ighmbp2
immunoglobulin mu DNA binding protein 2
ISO ISS
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC | ClinVar Annotator: match by term: Severe infantile axonal neuropathy with respiratory failure OMIM:604320 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15269181 PMID:15503272 PMID:15599641 PMID:15797190 PMID:16199547 PMID:16765827 PMID:16964485 PMID:17431882 PMID:17576681 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20031928 PMID:20859832 PMID:21353777 PMID:21360834 PMID:22157136 PMID:22791546 PMID:22965130 PMID:23449687 PMID:23566544 PMID:23806086 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24088041 PMID:24388491 PMID:25280635 PMID:25326635 PMID:25326637 PMID:25439726 PMID:25454169 PMID:25473036 PMID:25568292 PMID:25741868 PMID:25741915 PMID:26136520 PMID:26257172 PMID:26298607 PMID:26392352 PMID:26467025 PMID:26633542 PMID:26709713 PMID:26922252 PMID:27450922 PMID:27727376 PMID:28065684 PMID:28202949 PMID:28251916 PMID:28397221 PMID:28403181 PMID:28492532 PMID:28765793 PMID:28902413 PMID:29653221 PMID:29761130 PMID:29858556 PMID:30373780 PMID:30409445 PMID:30598237 PMID:30755392 PMID:30863264 PMID:31019026 PMID:31020813 PMID:31178897 PMID:31211173 PMID:32154989 PMID:32190976 PMID:32376792 PMID:32488064 PMID:32573669 PMID:32709422 PMID:33258288 PMID:33369814 PMID:34169998 PMID:34190362 PMID:34255403 PMID:34539730 PMID:11528396 More...
RGD:737748
NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
G
Abhd4
abhydrolase domain containing 4, N-acyl phospholipase B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,697,384...27,716,013
Ensembl chr15:27,704,113...27,716,966
G
Acin1
apoptotic chromatin condensation inducer 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,102,112...28,147,001
Ensembl chr15:28,102,112...28,147,001
G
Adcy4
adenylate cyclase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,266,280...29,282,153
Ensembl chr15:29,266,287...29,282,108
G
Ajuba
ajuba LIM protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,019,775...28,031,537
Ensembl chr15:28,019,778...28,030,021
G
Akap6
A-kinase anchoring protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:70,184,101...70,624,369
Ensembl chr 6:70,184,175...70,619,738
G
Ang
angiogenin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,312,711...24,323,361
G
Ap1g2
adaptor related protein complex 1 subunit gamma 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,571,571...28,579,421
Ensembl chr15:28,571,568...28,589,004
G
Ap4s1
adaptor related protein complex 4 subunit sigma 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,133,403...69,174,488
Ensembl chr 6:69,133,373...69,175,496
G
Arf6
ADP-ribosylation factor 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,853,742...87,854,890
Ensembl chr 6:87,840,142...87,874,114
G
Arhgap5
Rho GTPase activating protein 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,975,904...70,039,299
Ensembl chr 6:69,976,214...70,037,660
G
Arhgef40
Rho guanine nucleotide exchange factor 40
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,672,645...24,696,510
Ensembl chr15:24,672,763...24,696,510
G
Baz1a
bromodomain adjacent to zinc finger domain, 1A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,389,701...72,512,516
Ensembl chr 6:72,389,703...72,512,459
G
Bcl2l2
Bcl2-like 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
G
Brms1l
BRMS1 like transcriptional repressor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:73,266,673...73,300,630
Ensembl chr 6:73,266,691...73,300,631
G
C15h14orf119
similar to human chromosome 14 open reading frame 119
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,146,368...28,151,422
Ensembl chr15:28,146,333...28,155,180
G
C15h14orf93
similar to human chromosome 14 open reading frame 93
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,037,567...28,064,347
Ensembl chr15:28,037,574...28,064,274
G
C6h14orf28
similar to human chromosome 14 open reading frame 28
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:82,965,304...82,973,942
Ensembl chr 6:82,965,328...82,972,558
G
Carmil3
capping protein regulator and myosin 1 linker 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,978,440...28,995,865
Ensembl chr15:28,979,007...28,996,225
G
Cbln3
cerebellin 3 precursor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,362,014...29,364,523
Ensembl chr15:29,362,302...29,364,612
G
Cdh24
cadherin 24
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,091,578...28,101,330
Ensembl chr15:28,091,637...28,101,340
G
Cebpe
CCAAT/enhancer binding protein epsilon
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,169,711...28,171,471
Ensembl chr15:28,169,704...28,171,814
G
Cfl2
cofilin 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,355,664...72,359,709
Ensembl chr 6:72,355,664...72,359,674
G
Chd8
chromodomain helicase DNA binding protein 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,905,789...24,965,461
Ensembl chr15:24,905,789...24,951,285
G
Cideb
cell death-inducing DFFA-like effector b
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,252,208...29,256,482
Ensembl chr15:29,252,213...29,256,605
G
Clec14a
C-type lectin domain containing 14A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:75,881,470...75,884,612
Ensembl chr 6:75,881,473...75,884,612
G
Cma1
chymase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
G
Cmtm5
CKLF-like MARVEL transmembrane domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,412,624...28,415,304
Ensembl chr15:28,412,624...28,415,287
G
Coch
cochlin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,031,139...69,045,124
Ensembl chr 6:69,031,167...69,045,109
G
Cpne6
copine 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,998,293...29,005,044
Ensembl chr15:28,998,293...29,005,044
G
Ctsg
cathepsin G
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,930,988...29,937,353
Ensembl chr15:29,931,003...29,937,353
G
Dad1
defender against cell death 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,677,286...27,697,120
Ensembl chr15:27,677,268...27,697,347
G
Dcaf11
DDB1 and CUL4 associated factor 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,046,744...29,057,450
Ensembl chr15:29,046,826...29,057,669
G
Dhrs1
dehydrogenase/reductase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,236,522...29,243,807
Ensembl chr15:29,236,522...29,243,838
G
Dhrs2
dehydrogenase/reductase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,688,881...28,703,646
Ensembl chr15:28,688,940...28,703,644
G
Dhrs4
dehydrogenase/reductase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,966,544...28,978,135
Ensembl chr15:28,966,553...28,978,127
G
Dnaaf2
dynein, axonemal, assembly factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
G
Dtd2
D-aminoacyl-tRNA deacylase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,450,146...69,456,430
Ensembl chr 6:69,449,614...69,456,427
G
Eapp
E2F-associated phosphoprotein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,166,486...72,194,357
Ensembl chr 6:72,170,301...72,193,734
G
Eddm3b
epididymal protein 3B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,343,992...24,346,759
Ensembl chr15:24,345,573...24,346,025
G
Efs
embryonal Fyn-associated substrate
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,392,417...28,403,016
Ensembl chr15:28,392,187...28,401,902
G
Egln3
egl-9 family hypoxia-inducible factor 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:71,650,297...71,675,766
Ensembl chr 6:71,650,297...71,675,766
G
Emc9
ER membrane protein complex subunit 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,071,881...29,076,098
Ensembl chr15:29,071,883...29,076,098
G
Fam177a1
family with sequence similarity 177, member A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,632,628...72,647,553
Ensembl chr 6:72,632,623...72,647,553
G
Fancm
FA complementation group M
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
G
Fbxo33
F-box protein 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:76,900,619...76,934,232
Ensembl chr 6:76,900,631...76,932,669
G
Fitm1
fat storage-inducing transmembrane protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,064,746...29,066,015
Ensembl chr15:29,064,707...29,066,015
G
Fkbp3
FKBP prolyl isomerase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:83,113,885...83,125,500
Ensembl chr 6:83,113,786...83,127,011
G
Foxa1
forkhead box A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188
G
Foxg1
forkhead box G1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607
G
Fscb
fibrous sheath CABYR binding protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:82,527,849...82,530,641
G
G2e3
G2/M-phase specific E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:68,763,847...68,795,305
Ensembl chr 6:68,764,185...68,793,924
G
Gemin2
gem (nuclear organelle) associated protein 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:76,706,424...76,721,154
Ensembl chr 6:76,707,523...76,721,153
G
Gmpr2
guanosine monophosphate reductase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,165,421...29,175,933
Ensembl chr15:29,165,783...29,174,935
G
Gpr33-ps1
G protein-coupled receptor 33, pseudogene 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,474,435...69,475,440
Ensembl chr 6:69,474,435...69,475,440
G
Gzmb
granzyme B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:30,343,352...30,346,814
Ensembl chr15:30,173,603...30,346,814
G
Gzmf
granzyme F
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:30,005,361...30,018,649
Ensembl chr15:30,007,267...30,018,649
G
Haus4
HAUS augmin-like complex, subunit 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,994,530...28,006,147
Ensembl chr15:27,994,532...28,005,938
G
Heatr5a
HEAT repeat containing 5A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,321,869...69,419,861
Ensembl chr 6:69,321,869...69,419,773
G
Hectd1
HECT domain E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,181,429...69,268,045
Ensembl chr 6:69,181,436...69,268,053
G
Hnrnpc
heterogeneous nuclear ribonucleoprotein C
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,779,593...24,809,213
Ensembl chr15:24,779,450...24,809,183
G
Homez
homeobox and leucine zipper encoding
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,321,633...28,339,486
Ensembl chr15:28,320,819...28,339,745
G
Il25
interleukin 25
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,408,766...28,412,157
Ensembl chr15:28,408,842...28,411,893
G
Insm2
INSM transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,973,861...72,976,453
G
Ipo4
importin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,117,365...29,127,382
Ensembl chr15:29,117,365...29,127,285
G
Irf9
interferon regulatory factor 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236
G
Jph4
junctophilin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,579,579...28,588,903
Ensembl chr15:28,571,568...28,587,573
G
Khnyn
KH and NYN domain containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,365,399...29,379,650
Ensembl chr15:29,365,260...29,376,967
G
Klhdc1
kelch domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,670,182...87,765,431
Ensembl chr 6:87,712,772...87,765,424
G
Klhdc2
kelch domain containing 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,777,183...87,791,609
Ensembl chr 6:87,777,183...87,804,187
G
Klhl28
kelch-like family member 28
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:82,987,360...83,018,971
Ensembl chr 6:82,990,945...83,016,164
G
L2hgdh
L-2-hydroxyglutarate dehydrogenase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578
G
LOC103693823
epididymal secretory protein E3-beta-like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,385,585...24,386,643
Ensembl chr15:24,386,192...24,386,623
G
Lrfn5
leucine rich repeat and fibronectin type III domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:79,466,403...79,822,821
Ensembl chr 6:79,467,961...79,822,815
G
Lrp10
LDL receptor related protein 10
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,921,335...27,927,507
Ensembl chr15:27,920,259...27,927,505
G
Lrr1
leucine rich repeat protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,643,195...87,651,894
Ensembl chr 6:87,643,217...87,651,894
G
Ltb4r
leukotriene B4 receptor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,263,199...29,265,716
G
Ltb4r2
leukotriene B4 receptor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,258,712...29,260,531
Ensembl chr15:29,259,240...29,260,316
G
Mbip
MAP3K12 binding inhibitory protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:73,808,133...73,825,394
Ensembl chr 6:73,808,133...73,825,374
G
Mdga2
MAM domain containing glycosylphosphatidylinositol anchor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:84,746,422...85,608,640
Ensembl chr 6:84,761,941...85,608,126
G
Mdp1
magnesium-dependent phosphatase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,148,994...29,151,868
Ensembl chr15:29,148,994...29,151,905
G
Mettl17
methyltransferase like 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,582,296...24,589,029
Ensembl chr15:24,582,406...24,589,026
G
Mettl3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:25,002,505...25,014,097
Ensembl chr15:25,003,172...25,014,041
G
Mgat2
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177
G
Mia2
MIA SH3 domain ER export factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:76,787,508...76,885,246
Ensembl chr 6:76,787,508...76,885,211
G
Mipol1
mirror-image polydactyly 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:74,755,293...75,090,403
Ensembl chr 6:74,755,395...75,086,811
G
Mir208a
microRNA 208a
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,425,570...28,425,652
G
Mir208b
microRNA 208b
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,451,638...28,451,749
Ensembl chr15:28,451,638...28,451,749
G
Mis18bp1
MIS18 binding protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:83,182,497...83,231,978
Ensembl chr 6:83,182,499...83,231,383
G
Mmp14
matrix metallopeptidase 14
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
G
Mrpl52
mitochondrial ribosomal protein L52
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,882,777...27,886,131
Ensembl chr15:27,882,829...27,886,799
G
Myh6
myosin heavy chain 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
G
Myh7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
G
Ndrg2
NDRG family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,600,981...24,609,621
Ensembl chr15:24,600,982...24,609,626
G
Nedd8
NEDD8 ubiquitin like modifier
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,153,556...29,165,575
Ensembl chr15:29,153,556...29,166,160
G
Nemf
nuclear export mediator factor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,791,650...87,835,826
Ensembl chr 6:87,791,656...87,835,841
G
Nfatc4
nuclear factor of activated T-cells 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,286,998...29,314,610
Ensembl chr15:29,305,535...29,314,610
G
Nfkbia
NFKB inhibitor alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
G
Ngdn
neuroguidin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,489,950...28,497,286
Ensembl chr15:28,490,040...28,519,654
G
Nkx2-1
NK2 homeobox 1
ISO
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) ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 PMID:15289765 PMID:15955952 PMID:17220277 PMID:17576681 PMID:17765926 PMID:18661567 PMID:18788921 PMID:18957494 PMID:19176457 PMID:19336474 PMID:20020530 PMID:21813802 PMID:22825795 PMID:22832740 PMID:23379327 PMID:23430038 PMID:24171694 PMID:24453141 PMID:24555207 PMID:24714694 PMID:24930029 PMID:25326635 PMID:25741868 PMID:26640963 PMID:27066577 PMID:28492532 PMID:28588801 PMID:28732825 PMID:29109906 PMID:29538355 PMID:29882472 PMID:30352709 PMID:30746413 PMID:23911641 PMID:23379327 PMID:18788921 PMID:26839702 More...
RGD:12914768 , RGD:12914769 , RGD:11073166 , RGD:12914770
NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791
G
Nkx2-8
NK2 homeobox 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:74,086,274...74,087,977
Ensembl chr 6:74,086,274...74,087,977
G
Nop9
NOP9 nucleolar protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,243,853...29,252,220
Ensembl chr15:29,243,862...29,252,220
G
Nova1
NOVA alternative splicing regulator 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:63,780,105...63,905,567
Ensembl chr 6:63,783,489...63,906,289
G
Npas3
neuronal PAS domain protein 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:70,702,773...71,527,928
Ensembl chr 6:70,703,170...71,524,884
G
Nrl
neural retina leucine zipper
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,007,059...29,011,480
Ensembl chr15:29,008,104...29,009,832
G
Nubpl
NUBP iron-sulfur cluster assembly factor like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,559,278...69,781,254
Ensembl chr 6:69,559,291...69,781,253
G
Nynrin
NYN domain and retroviral integrase containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,332,873...29,355,215
Ensembl chr15:29,332,869...29,355,215
G
Or10g1b
olfactory receptor family 10 subfamily G member 1B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:25,127,833...25,128,789
Ensembl chr15:25,127,140...25,135,188
G
Or10g3
olfactory receptor family 10 subfamily G member 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:25,098,674...25,099,615
Ensembl chr15:25,098,674...25,099,615
G
Or4e2
olfactory receptor family 4 subfamily E member 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:25,187,633...25,188,559
Ensembl chr15:25,179,800...25,191,297
G
Or5au1
olfactory receptor family 5 subfamily AU member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,736,872...24,742,314
Ensembl chr15:24,737,497...24,743,632
G
Oxa1l
OXA1L, mitochondrial inner membrane protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,813,688...27,821,319
Ensembl chr15:27,813,625...27,821,319
G
Pabpn1
poly(A) binding protein, nuclear 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,368,100...28,372,712
Ensembl chr15:28,368,100...28,372,703
G
Pax9
paired box 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506
G
Pck2
phosphoenolpyruvate carboxykinase 2 (mitochondrial)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,027,891...29,036,729
Ensembl chr15:29,027,894...29,037,283
G
Pnn
pinin, desmosome associated protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:76,758,138...76,766,451
Ensembl chr 6:76,758,117...76,766,889
G
Pole2
DNA polymerase epsilon 2, accessory subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,674,702...87,712,723
Ensembl chr 6:87,674,702...87,699,305
G
Ppp1r3e
protein phosphatase 1, regulatory subunit 3E
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,348,443...28,349,603
Ensembl chr15:28,347,854...28,349,603
G
Ppp2r3c
protein phosphatase 2, regulatory subunit B'', gamma
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491
G
Prkd1
protein kinase D1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:67,725,193...68,039,002
Ensembl chr 6:67,725,905...68,039,042
G
Prmt5
protein arginine methyltransferase 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
G
Prorp
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
G
Prpf39
pre-mRNA processing factor 39
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:83,088,981...83,113,826
Ensembl chr 6:83,088,986...83,113,825
G
Psma6
proteasome 20S subunit alpha 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,765,534...72,796,554
Ensembl chr 6:72,765,473...72,796,554
G
Psmb11
proteasome subunit beta 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,084,736...28,085,655
G
Psmb5
proteasome 20S subunit beta 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,072,772...28,077,367
Ensembl chr15:28,072,781...28,077,440
G
Psme1
proteasome activator subunit 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,069,012...29,071,888
Ensembl chr15:29,068,729...29,071,890
G
Psme2
proteasome activator subunit 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,078,495...29,082,794
Ensembl chr15:29,078,500...29,082,946
G
Rab2b
RAB2B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,968,364...24,988,990
Ensembl chr15:24,968,803...24,989,113
G
Rabggta
Rab geranylgeranyltransferase subunit alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,206,328...29,213,398
Ensembl chr15:29,206,157...29,213,348
G
Ralgapa1
Ral GTPase activating protein catalytic subunit alpha 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,977,432...73,252,378
Ensembl chr 6:72,977,432...73,252,378
G
Rec8
REC8 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,109,862...29,117,327
Ensembl chr15:29,109,863...29,117,326
G
Rem2
RRAD and GEM like GTPase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,933,950...27,938,429
Ensembl chr15:27,933,950...27,938,429
G
Ripk3
receptor-interacting serine-threonine kinase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
G
Rn7sl1
RNA component of signal recognition particle 7SL1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,636,808...87,637,106
Ensembl chr 6:87,636,804...87,637,103
G
Rnase1
ribonuclease A family member 1, pancreatic
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,361,924...24,363,633
Ensembl chr15:24,361,927...24,363,624
G
Rnase13
ribonuclease A family member 13
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,618,209...24,618,670
Ensembl chr15:24,618,209...24,618,670
G
Rnase2
ribonuclease A family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,449,618...24,450,427
Ensembl chr15:24,449,611...24,450,479
G
Rnase3
ribonuclease A family member 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,511,894...24,512,764
Ensembl chr15:24,511,891...24,512,790
G
Rnase4
ribonuclease A family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,312,765...24,330,112
Ensembl chr15:24,312,464...24,330,117
G
Rnase6
ribonuclease A family member k6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,354,305...24,357,289
Ensembl chr15:24,354,303...24,357,328
G
Rnf212b
ring finger protein 212B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,274,629...28,321,093
Ensembl chr15:28,244,083...28,321,347
G
Rnf31
ring finger protein 31
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,083,047...29,095,328
Ensembl chr15:29,083,631...29,101,915
G
Rpgrip1
RPGR interacting protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
G
Rpl10l
ribosomal protein L10 like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:84,544,771...84,545,791
Ensembl chr 6:84,543,540...84,545,816
G
Rpl36al1
ribosomal protein L36A like 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,654,808...87,656,202
Ensembl chr X:97,766,179...97,768,892 Ensembl chr10:97,766,179...97,768,892
G
Rps29
ribosomal protein S29
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,635,229...87,636,627
Ensembl chr 6:87,635,230...87,636,636
G
Sall2
spalt-like transcription factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:25,021,345...25,038,918
Ensembl chr15:25,021,345...25,038,918
G
Scfd1
sec1 family domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:68,795,810...68,874,076
Ensembl chr 6:68,795,878...68,874,078
G
Sdr39u1
short chain dehydrogenase/reductase family 39U, member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,378,156...29,380,989
Ensembl chr15:29,378,026...29,381,560
G
Sec23a
Sec23 homolog A, COPII coat complex component
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:76,658,793...76,706,125
Ensembl chr 6:76,658,427...76,706,035
G
Slc22a17
solute carrier family 22, member 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,382,285...28,389,435
Ensembl chr15:28,382,292...28,388,799
G
Slc25a21
solute carrier family 25 member 21
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:74,203,439...74,702,902
Ensembl chr 6:74,203,440...74,702,680
G
Slc39a2
solute carrier family 39 member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,590,738...24,592,850
Ensembl chr15:24,590,738...24,592,850
G
Slc7a7
solute carrier family 7 member 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648
G
Slc7a8
solute carrier family 7 member 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,183,013...28,242,717
Ensembl chr15:28,183,015...28,242,717
G
Snx6
sorting nexin 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,230,950...72,274,157
Ensembl chr 6:72,229,870...72,315,911
G
Sos2
SOS Ras/Rho guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:88,042,966...88,156,140
Ensembl chr 6:88,042,966...88,156,692
G
Sptssa
serine palmitoyltransferase, small subunit A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,144,714...72,156,130
Ensembl chr 6:72,144,714...72,156,214
G
Srp54a
signal recognition particle 54A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,587,584...72,626,878
Ensembl chr 6:72,587,605...72,625,189
G
Sstr1
somatostatin receptor 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:75,832,292...75,836,806
Ensembl chr 6:75,832,530...75,836,802
G
Strn3
striatin 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,047,776...69,134,102
Ensembl chr 6:69,047,776...69,134,102
G
Stxbp6
syntaxin binding protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:61,920,756...62,157,405
Ensembl chr 6:61,920,756...62,158,024
G
Supt16h
SPT16 homolog, facilitates chromatin remodeling subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,867,697...24,904,818
Ensembl chr15:24,866,489...24,904,846
G
Tgm1
transglutaminase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
G
Thtpa
thiamine triphosphatase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,567,619...28,571,580
Ensembl chr15:28,567,323...28,571,580
G
Tinf2
TERF1 interacting nuclear factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
G
Tm9sf1
transmembrane 9 superfamily member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,127,585...29,135,334
Ensembl chr15:29,127,584...29,135,349
G
Tmem253
transmembrane protein 253
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,706,517...24,709,107
Ensembl chr15:24,706,529...24,708,625
G
Togaram1
TOG array regulator of axonemal microtubules 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807
G
Tox4
TOX high mobility group box family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,989,246...25,002,833
Ensembl chr15:24,988,853...25,002,833
G
Tppp2
tubulin polymerization-promoting protein family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,614,284...24,627,123
Ensembl chr15:24,614,006...24,618,967
G
Trappc6b
trafficking protein particle complex subunit 6B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:76,740,898...76,752,035
Ensembl chr 6:76,740,898...76,752,024
G
Tssk4
testis-specific serine kinase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,140,803...29,144,128
Ensembl chr15:29,141,792...29,144,128
G
Ttc6
tetratricopeptide repeat domain 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:75,136,827...75,368,176
Ensembl chr 6:75,136,792...75,368,178
G
Vcpkmt
valosin containing protein lysine methyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:88,036,485...88,042,151
Ensembl chr 6:88,036,494...88,042,000
G
Zfhx2
zinc finger homeobox 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,533,155...28,565,667
Ensembl chr15:28,533,156...28,565,128
G
Zfp219
zinc finger protein 219
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,695,831...24,710,039
Ensembl chr15:24,695,837...24,710,030
G
Bax
BCL2 associated X, apoptosis regulator
IEP
RGD
PMID:26431790
RGD:11537057
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
G
Bid
BH3 interacting domain death agonist
IEP
RGD
PMID:26431790
RGD:11537057
NCBI chr 4:154,113,198...154,136,353
Ensembl chr 4:154,113,198...154,134,720
G
Casp3
caspase 3
IEP
RGD
PMID:26431790
RGD:11537057
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
G
Casp8
caspase 8
IEP
RGD
PMID:26431790
RGD:11537057
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
G
Casp9
caspase 9
IEP
RGD
PMID:26431790
RGD:11537057
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
G
Cat
catalase
IDA
RGD
PMID:19693467
RGD:5130750
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
G
Ccl7
C-C motif chemokine ligand 7
ISO
RGD
PMID:16888287
RGD:5130981
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
G
Cd209c
CD209c molecule
ISO
RGD
PMID:20050784
RGD:5131185
NCBI chr12:1,936,233...1,943,841
Ensembl chr12:1,936,396...1,942,040
G
Cd209d
CD209d molecule
ISO
RGD
PMID:20050784
RGD:5131185
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
G
Chi3l1
chitinase 3 like 1
ISO
protein:decreased secretion:lung, secretion (human)
RGD
PMID:20558631
RGD:4892651
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
G
Cxcl1
C-X-C motif chemokine ligand 1
IEP
RGD
PMID:19951473
RGD:5134972
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
G
Dag1
dystroglycan 1
ISO
DNA:SNP: :p.N494H (human)
RGD
PMID:17196572
RGD:11537474
NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
G
Edn1
endothelin 1
IEP
protein:increased expression:lung (rat)
RGD
PMID:20647310
RGD:4144841
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
G
Epas1
endothelial PAS domain protein 1
treatment
IEP
RGD
PMID:23065129
RGD:10395385
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
G
Flt1
Fms related receptor tyrosine kinase 1
ISO
RGD
PMID:22003089
RGD:10402122
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
G
Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
DNA:deletion, haplotype:: (human)
RGD
PMID:24120392
RGD:12792215
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:polymorphism:exon:p.I105V (human)
RGD
PMID:14726935
RGD:4142520
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
G
Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
DNA:deletion, haplotype:: (human)
RGD
PMID:24120392
RGD:12792215
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
G
H19
H19 imprinted maternally expressed transcript
ameliorates
ISO
RGD
PMID:33285606
RGD:242905194
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
G
Hif1a
hypoxia inducible factor 1 subunit alpha
treatment
IEP
RGD
PMID:23065129 PMID:26431790
RGD:10395385 , RGD:11537057
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
G
Il1b
interleukin 1 beta
ISO
protein:increased expression:lung CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16813970 PMID:15539764
RGD:4143172
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Itga3
integrin subunit alpha 3
ISO
ClinVar Annotator: match by term: Bronchopulmonary dysplasia
ClinVar
PMID:25741868
NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118
G
Mbl2
mannose binding lectin 2
susceptibility
ISO
associated with Premature Birth;DNA:polymorphism:exon:
RGD
PMID:22882323
RGD:12910846
NCBI chr 1:228,016,439...228,024,736
G
Mif
macrophage migration inhibitory factor
ISO
associated with Respiratory Distress Syndrome, Newborn; protein:increased expression:lung
RGD
PMID:18097062
RGD:4891007
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
G
Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:19097983
RGD:5129685
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Muc1
mucin 1, cell surface associated
severity
ISO
protein:increased expression:cord plasma
RGD
PMID:18025794
RGD:5131170
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
G
Nfkbia
NFKB inhibitor alpha
exacerbates
ISO
DNA:SNPs:promoter: (rs2233406, rs2233409) (human)
RGD
PMID:23487427
RGD:40902982
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
G
Postn
periostin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363622
NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
G
Scgb1a1
secretoglobin family 1A member 1
ISO
RGD
PMID:11435254
RGD:5144211
NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
G
Serpine1
serpin family E member 1
ISO
associated with Premature Birth;protein:increased expression:blood:
RGD
PMID:25140773
RGD:13208551
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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 chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
G
Sftpb
surfactant protein B
susceptibility
ISO
DNA:deletion:intron (human) DNA:SNPs:5'UTR,exon: DNA:polymorphism:intron (human)
RGD
PMID:15102713 PMID:26045806 PMID:17264398 PMID:12424586
RGD:4143405 , RGD:11085373 , RGD:4143384 , RGD:4143418
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
G
Sftpd
surfactant protein D
ISO
RGD
PMID:17264398
RGD:4143384
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Tp53
tumor protein p53
IEP
RGD
PMID:26431790
RGD:11537057
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
G
Txn1
thioredoxin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20812253
NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
G
Vdr
vitamin D receptor
susceptibility
ISO
associated with Premature Birth;DNA:SNPs: :rs2228570,rs731236(human)
RGD
PMID:24796371
RGD:13432055
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
G
Erf
Ets2 repressor factor
ISO
ClinVar Annotator: match by term: Chitayat syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8418638 PMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 PMID:29758562 PMID:30569521 PMID:30728880 PMID:30758909 PMID:32370745 PMID:32592542 More...
NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
G
Serpine1
serpin family E member 1
ISO
RGD
PMID:8981909
RGD:4144850
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
G
Sftpa1
surfactant protein A1
ISO
ClinVar Annotator: match by term: Respiratory distress associated with prematurity
ClinVar
PMID:24033266 PMID:25741868
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
G
Sftpc
surfactant protein C
ISO
RGD
PMID:9655740
RGD:4143444
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
G
Slc27a4
solute carrier family 27 member 4
ISO
ClinVar Annotator: match by term: Ichthyosis prematurity syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16199547 PMID:19631310 PMID:21450060 PMID:22927265 PMID:25741868 PMID:26783444 PMID:27025581 PMID:27081519 PMID:27224495 PMID:28492532 PMID:30077338 PMID:30536735 PMID:31595490 PMID:31681265 PMID:33935161 More...
NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943
G
Col2a1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: Kniest dysplasia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 PMID:7874117 PMID:7977371 PMID:7981752 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9066888 PMID:9468540 PMID:9536098 PMID:10406661 PMID:11297324 PMID:12995812 PMID:17078022 PMID:17347327 PMID:17576681 PMID:18272325 PMID:18276201 PMID:19344236 PMID:22791362 PMID:23188137 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26467025 PMID:28492532 PMID:29620724 PMID:29758562 PMID:30408610 More...
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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:25504735 PMID:25741868 PMID:25741881 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29620724 PMID:29901129 PMID:30362252 PMID:31127727 PMID:34244600 PMID:34906502 PMID:35982159 More...
NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594
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 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140
G
Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 PMID:33565752 PMID:36208030 More...
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
G
Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 PMID:18413255 PMID:19206169 PMID:20186801 PMID:24033266 PMID:25463315 PMID:25741868 PMID:28492532 More...
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
G
Cat
catalase
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:22574884
RGD:8655661
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
G
Des
desmin
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 PMID:28341588 PMID:28492532 PMID:30755392 PMID:32268277 PMID:32403337 More...
NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
G
Dync2h1
dynein cytoplasmic 2 heavy chain 1
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868 PMID:28492532 PMID:29068549
NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183
G
Epas1
endothelial PAS domain protein 1
ISS
OMIM:267450
MouseDO
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
G
Gjb2
gap junction protein, beta 2
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:17666888 PMID:25741868 PMID:30755392
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
G
Hmox1
heme oxygenase 1
ISO
mRNA:increased expression:blood cells
RGD
PMID:18301921
RGD:4145353
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
Mbl2
mannose binding lectin 2
disease_progression
ISO
RGD
PMID:25879044
RGD:12910849
NCBI chr 1:228,016,439...228,024,736
G
Megf10
multiple EGF-like domains 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22101682
NCBI chr18:50,605,231...50,755,441
Ensembl chr18:50,605,656...50,754,456
G
Mif
macrophage migration inhibitory factor
ISO
RGD
PMID:18097062
RGD:4891007
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
G
Ndst1
N-deacetylase and N-sulfotransferase 1
ISS
OMIM:267450
MouseDO
NCBI chr18:54,136,887...54,199,545
Ensembl chr18:54,140,779...54,178,191
G
Nprl2
NPR2-like, GATOR1 complex subunit
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868
NCBI chr 8:108,215,823...108,218,996
Ensembl chr 8:108,215,814...108,218,996
G
Npsr1
neuropeptide S receptor 1
ISO
RGD
PMID:16938805
RGD:4891932
NCBI chr 8:22,606,946...22,831,558
Ensembl chr 8:22,606,946...22,831,558
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 chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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 More...
RGD:4143416 , RGD:4143455 , RGD:4143433 , RGD:4143428 , RGD:4143418 , RGD:4143376
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
G
Sftpc
surfactant protein C
IEP ISO
mRNA, protein:decreased expression:lung ClinVar Annotator: match by term: Neonatal respiratory distress protein:altered processing:amniotic fluid, lung
ClinVar RGD
PMID:25741868 PMID:11504697 PMID:7537464
RGD:4143428 , RGD:4144127
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
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 chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
G
Sod1
superoxide dismutase 1
susceptibility
ISO
DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human)
RGD
PMID:22574884
RGD:8655661
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
G
Tnnt2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10789933
NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
G
Vegfa
vascular endothelial growth factor A
ISS
OMIM:267450
MouseDO
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Adipoq
adiponectin, C1Q and collagen domain containing
treatment
ISO
RGD
PMID:19342600
RGD:7394795
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
G
Amigo2
adhesion molecule with Ig like domain 2
treatment
ISO
RGD
PMID:26553931
RGD:14392781
NCBI chr 7:128,391,493...128,394,589
Ensembl chr 7:128,390,412...128,394,695
G
Bcl2
BCL2, apoptosis regulator
ameliorates
ISO
RGD
PMID:35445044
RGD:329812014
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
G
Casp3
caspase 3
ameliorates
ISO
RGD
PMID:35445044
RGD:329812014
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ccn1
cellular communication network factor 1
ameliorates
ISO
RGD
PMID:35445044
RGD:329812014
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
G
Csnk2a1
casein kinase 2 alpha 1
ISO
RGD
PMID:16651637
RGD:11565123
NCBI chr 3:140,709,984...140,756,757
Ensembl chr 3:140,709,991...140,756,696
G
Csnk2a2
casein kinase 2 alpha 2
ISO
RGD
PMID:16651637
RGD:11565123
NCBI chr19:9,556,443...9,596,080
Ensembl chr19:9,556,260...9,596,080
G
Csnk2b
casein kinase 2 beta
ISO
RGD
PMID:16651637
RGD:11565123
NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133
G
Dll4
delta like canonical Notch ligand 4
treatment
IEP
RGD
PMID:26670826
RGD:155663663
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
G
Efnb2
ephrin B2
IEP
mRNA:increased expression:retina
RGD
PMID:26670826
RGD:155663663
NCBI chr16:80,783,389...80,827,420
Ensembl chr16:80,783,417...80,824,391
G
Ephb4
EPH receptor B4
treatment
IEP
RGD
PMID:26670826
RGD:155663663
NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
G
Fas
Fas cell surface death receptor
ISO
mRNA:increased expression:retina
RGD
PMID:17102953
RGD:12903974
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Faslg
Fas ligand
ISO
RGD
PMID:17102953
RGD:12903974
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
G
Ghrl
ghrelin and obestatin prepropeptide
IEP
RGD
PMID:21642627
RGD:12904963
NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
G
Ghsr
growth hormone secretagogue receptor
treatment
IMP
RGD
PMID:21642627
RGD:12904963
NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
G
Hif1a
hypoxia inducible factor 1 subunit alpha
treatment ameliorates
ISO
mRNA:increased expression:retina (mouse)
RGD
PMID:18087198 PMID:35445044 PMID:20220049
RGD:8695923 , RGD:329812014 , RGD:9068455
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
G
Hmgb1
high mobility group box 1
treatment
ISO
RGD
PMID:24371837
RGD:10402057
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
G
Igf1
insulin-like growth factor 1
IEP
protein:decreased expression:serum (rat)
RGD
PMID:18344903
RGD:12910457
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
G
Il1b
interleukin 1 beta
ameliorates
ISO
RGD
PMID:35445044
RGD:329812014
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Kdr
kinase insert domain receptor
treatment
IEP IMP
RGD
PMID:17349140 PMID:15951738
RGD:8549715 , RGD:1581593
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
G
Mapk8
mitogen-activated protein kinase 8
ISO
RGD
PMID:19433784
RGD:10412674
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
G
Mir126a
microRNA 126a
ameliorates
ISO
RGD
PMID:21586283
RGD:401850785
NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
G
Mir145
microRNA 145
ameliorates
ISO
RGD
PMID:35445044
RGD:329812014
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
G
Mobp
myelin-associated oligodendrocyte basic protein
IEP
mRNA:decreased expression:retina:
RGD
PMID:21350694
RGD:10401135
NCBI chr 8:119,869,504...119,899,605
Ensembl chr 8:119,869,626...119,899,563
G
Ndp
norrin cystine knot growth factor NDP
treatment
ISO
RGD
PMID:20053900
RGD:8694208
NCBI chr X:5,796,487...5,820,934
Ensembl chr X:5,796,487...5,820,934
G
Ntn1
netrin 1
treatment
IEP
RGD
PMID:26670826
RGD:155663663
NCBI chr10:52,899,933...53,098,591
Ensembl chr10:52,899,934...53,085,326
G
Pparg
peroxisome proliferator-activated receptor gamma
ISO
protein:decreased expression:retina (mouse)
RGD
PMID:18806296
RGD:2301844
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
G
Ptafr
platelet-activating factor receptor
treatment
IMP
RGD
PMID:12356842
RGD:10041062
NCBI chr 5:144,765,770...144,795,057
Ensembl chr 5:144,765,976...144,795,251
G
Ptger3
prostaglandin E receptor 3
IEP
protein:increased expression:retina (rat)
RGD
PMID:12821538
RGD:9850261
NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434
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 chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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 chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
G
Sod1
superoxide dismutase 1
ISO
RGD
PMID:16741961
RGD:8655606
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
G
Stat3
signal transducer and activator of transcription 3
ISO
RGD
PMID:16303927
RGD:8694296
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
G
Tnf
tumor necrosis factor
ameliorates
ISO
RGD
PMID:15681845 PMID:35445044 PMID:19342600
RGD:7394799 , RGD:329812014 , RGD:7394795
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Tug1
taurine up-regulated 1
ameliorates
ISO
RGD
PMID:35445044
RGD:329812014
NCBI chr14:78,519,894...78,526,927
Ensembl chr14:78,522,506...78,526,927
G
Vegfa
vascular endothelial growth factor A
ameliorates
IEP ISO
mRNA:increased expression:retina:
RGD
PMID:15303088 PMID:35445044
RGD:7483624 , RGD:329812014
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Arid1a
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Periventricular leukomalacia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
G
Dnah11
dynein, axonemal, heavy chain 11
ISO
ClinVar Annotator: match by term: Periventricular leukomalacia
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
G
Mbp
myelin basic protein
IEP
protein:decreased expression:brain:
RGD
PMID:23614640
RGD:7327203
NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
G
Mcoln1
mucolipin TRP cation channel 1
ISO
ClinVar Annotator: match by term: Periventricular leukomalacia
ClinVar
PMID:11030752 PMID:11317355 PMID:16199547 PMID:28492532 PMID:31623504
NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
G
Parp1
poly (ADP-ribose) polymerase 1
ISO
RGD
PMID:21596035
RGD:5683904
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
G
Tmco1
transmembrane and coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Periventricular leukomalacia
ClinVar
PMID:25741868
NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555
G
Tnf
tumor necrosis factor
IDA ISO
RGD
PMID:15765524 PMID:8652010
RGD:1580604 , RGD:12904655
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Adrb3
adrenoceptor beta 3
ISO
protein:increased expression:retina (mouse)
RGD
PMID:20739470
RGD:5684355
NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
G
Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15387897
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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 chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
G
Dll4
delta like canonical Notch ligand 4
treatment
IEP
RGD
PMID:30652694
RGD:155663485
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
G
Epo
erythropoietin
IEP
protein:decreased expression:retina:
RGD
PMID:24630601
RGD:11041658
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
G
Epor
erythropoietin receptor
IEP
protein:increased expression,increased activity:retina:
RGD
PMID:24630601
RGD:11041658
NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
G
Flt1
Fms related receptor tyrosine kinase 1
treatment
ISO IEP
RGD
PMID:21731737 PMID:30652694
RGD:5684426 , RGD:155663485
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
G
Fzd4
frizzled class receptor 4
ISO
ClinVar Annotator: match by term: Retinopathy of prematurity
ClinVar
PMID:15733276 PMID:25741868 PMID:28492532
NCBI chr 1:143,279,934...143,288,799
Ensembl chr 1:143,280,065...143,285,724
G
Hgf
hepatocyte growth factor
ISO
RGD
PMID:10751359
RGD:8548546
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
G
Icam1
intercellular adhesion molecule 1
IEP
mRNA:increased expression:retina (rat)
RGD
PMID:20368504
RGD:4145427
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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 chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
G
Ihh
Indian hedgehog signaling molecule
ISO
DNA:SNP
RGD
PMID:18787502
RGD:12910978
NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
G
Il10
interleukin 10
ISO
protein:increased expression:vitreous humor
RGD
PMID:19700197
RGD:7364863
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il1b
interleukin 1 beta
IDA
RGD
PMID:23113620
RGD:7204128
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Kdr
kinase insert domain receptor
treatment
ISO IEP
mRNA:increased expression:retina associated with premature birth;protein:increased expression:plasma:
RGD
PMID:21731737 PMID:30652694 PMID:15039215 PMID:18408080
RGD:5684426 , RGD:155663485 , RGD:8549753 , RGD:8549746
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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:5,796,487...5,820,934
Ensembl chr X:5,796,487...5,820,934
G
Nos1
nitric oxide synthase 1
IEP
protein:increased expression:retina
RGD
PMID:23204802
RGD:7257667
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
G
Nos2
nitric oxide synthase 2
IEP
protein:increased expression:retina
RGD
PMID:23204802
RGD:7257667
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
G
Nos3
nitric oxide synthase 3
severity
ISO
DNA:duplication:intron:IVS4?-?+27 (human)
RGD
PMID:18334945
RGD:7771560
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Notch1
notch receptor 1
treatment
IEP
RGD
PMID:30652694
RGD:155663485
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
G
Prss23
serine protease 23
ISO
ClinVar Annotator: match by term: Retinopathy of prematurity
ClinVar
PMID:15733276 PMID:25741868 PMID:28492532
NCBI chr 1:143,402,725...143,422,182
Ensembl chr 1:143,401,396...143,422,091
G
RT1-CE13
RT1 class I, locus CE13
ISO
DNA:polymorphisms:cds:HLA-B*38 (human)
RGD
PMID:24033735
RGD:7365093
NCBI chr20:3,314,830...3,318,106
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 chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
Serpine1
serpin family E member 1
ISO
human protein in a rat model
RGD
PMID:14638747
RGD:8547810
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
G
Serpinf1
serpin family F member 1
IEP
mRNA, protein:increased expression:retina (rat)
RGD
PMID:21738387
RGD:8655555
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
G
Sod1
superoxide dismutase 1
susceptibility
ISO
DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human)
RGD
PMID:22958044
RGD:8655635
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
G
Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:subretinal fluid:
RGD
PMID:10751359
RGD:8548546
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all