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: spinal disease
Accession: DOID:0060564
browse the term
Definition: A bone disease that is located_in the spine. (DO)
Synonyms: exact_synonym: spinal diseases
primary_id: MESH:D013122
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Flnb
filamin, beta
ISO
spondylocarpotarsal syndrome,OMIM:272460;DNA:frameshift:6408delC,DNA:point mutation:exons:R818X,R1607X
RGD
PMID:14991055
RGD:1601168
NCBI chr14:14,518,185...14,651,852
Ensembl chr14:14,518,185...14,651,816
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Penk
preproenkephalin
ISO
mRNA:increased expression:hypothalamus:
RGD
PMID:11501038
RGD:10003114
NCBI chr 4:4,133,536...4,138,815
Ensembl chr 4:4,133,531...4,138,819
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Tsc1
TSC complex subunit 1
IAGP
MouseDO
NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179
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Asb2
ankyrin repeat and SOCS box-containing 2
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:103,287,401...103,322,260
Ensembl chr12:103,287,401...103,322,260
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Atxn3
ataxin 3
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:101,885,160...101,928,139
Ensembl chr12:101,885,160...101,924,505
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Btbd7
BTB domain containing 7
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:102,747,056...102,844,733
Ensembl chr12:102,747,056...102,844,730
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Calm1
calmodulin 1
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:100,165,694...100,176,083
Ensembl chr12:100,165,694...100,176,073
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Catsperb
cation channel sperm associated auxiliary subunit beta
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:101,370,904...101,592,268
Ensembl chr12:101,370,912...101,592,268
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Ccdc88c
coiled-coil domain containing 88C
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:100,877,778...100,995,610
Ensembl chr12:100,877,782...100,995,315
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Chga
chromogranin A
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:102,521,200...102,531,286
Ensembl chr12:102,521,228...102,531,287
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Cox8c
cytochrome c oxidase subunit 8C
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:102,865,565...102,866,793
Ensembl chr12:102,865,575...102,866,785
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Cpsf2
cleavage and polyadenylation specific factor 2
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:101,940,345...101,972,252
Ensembl chr12:101,942,247...101,972,683
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Ddx24
DEAD box helicase 24
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:103,374,235...103,392,106
Ensembl chr12:103,374,241...103,392,089
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Dglucy
D-glutamate cyclase
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:100,745,316...100,838,869
Ensembl chr12:100,745,316...100,863,240
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Fam181a
family with sequence similarity 181, member A
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:103,277,272...103,283,326
Ensembl chr12:103,277,234...103,283,324
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Fbln5
fibulin 5
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:101,712,820...101,785,541
Ensembl chr12:101,712,824...101,785,314
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Golga5
golgin A5
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:102,435,372...102,464,274
Ensembl chr12:102,435,394...102,464,166
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Gon7
GON7 subunit of KEOPS complex
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:102,719,534...102,724,069
Ensembl chr12:102,719,534...102,724,062
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Gpr68
G protein-coupled receptor 68
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:100,842,941...100,874,457
Ensembl chr12:100,842,941...100,874,457
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Ifi27
interferon, alpha-inducible protein 27
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:103,400,448...103,406,504
Ensembl chr12:103,400,470...103,406,498
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Ifi27l2a
interferon, alpha-inducible protein 27 like 2A
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:103,400,132...103,409,939
Ensembl chr12:103,408,426...103,409,939
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Itpk1
inositol 1,3,4-triphosphate 5/6 kinase
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:102,534,842...102,671,128
Ensembl chr12:102,534,841...102,671,189
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Kcnk13
potassium channel, subfamily K, member 13
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:99,928,132...100,028,941
Ensembl chr12:99,930,758...100,028,941
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Lgmn
legumain
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:102,360,341...102,405,987
Ensembl chr12:102,360,343...102,406,072
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Lyset
lysosomal enzyme trafficking factor
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:102,709,978...102,714,551
Ensembl chr12:102,710,021...102,713,820
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Moap1
modulator of apoptosis 1
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:102,706,089...102,709,920
Ensembl chr12:102,708,489...102,709,920
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Ndufb1
NADH:ubiquinone oxidoreductase subunit B1
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:101,934,355...101,941,997
Ensembl chr12:101,934,349...101,943,327
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Nrde2
nrde-2 necessary for RNA interference, domain containing
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:100,091,709...100,126,981
Ensembl chr12:100,091,711...100,125,912
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Otub2
OTU domain, ubiquitin aldehyde binding 2
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:103,343,244...103,372,609
Ensembl chr12:103,354,941...103,372,609
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Ppp4r3a
protein phosphatase 4 regulatory subunit 3A
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:101,005,668...101,051,721
Ensembl chr12:101,005,668...101,049,961
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Ppp4r4
protein phosphatase 4, regulatory subunit 4
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:103,498,509...103,580,098
Ensembl chr12:103,498,542...103,580,090
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Prima1
proline rich membrane anchor 1
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:103,160,712...103,208,967
Ensembl chr12:103,163,167...103,208,409
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Psmc1
protease (prosome, macropain) 26S subunit, ATPase 1
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:100,076,461...100,089,623
Ensembl chr12:100,076,413...100,089,664
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Rin3
Ras and Rab interactor 3
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:102,248,572...102,358,982
Ensembl chr12:102,249,307...102,357,114
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Rps6ka5
ribosomal protein S6 kinase, polypeptide 5
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:100,514,692...100,691,693
Ensembl chr12:100,514,698...100,693,242
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Serpina10
serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:103,582,934...103,597,681
Ensembl chr12:103,581,045...103,597,703
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Serpina1f
serine (or cysteine) peptidase inhibitor, clade A, member 1F
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:103,654,303...103,661,788
Ensembl chr12:103,654,303...103,661,788
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Serpina6
serine (or cysteine) peptidase inhibitor, clade A, member 6
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:103,612,889...103,623,477
Ensembl chr12:103,612,889...103,623,471
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Slc24a4
solute carrier family 24 (sodium/potassium/calcium exchanger), member 4
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:102,094,986...102,239,562
Ensembl chr12:102,094,992...102,233,350
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Tc2n
tandem C2 domains, nuclear
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:101,611,705...101,685,178
Ensembl chr12:101,611,702...101,684,782
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Tdp1
tyrosyl-DNA phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:99,850,767...99,921,482
Ensembl chr12:99,850,776...99,921,478
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Trip11
thyroid hormone receptor interactor 11
ISO IAGP
ClinVar Annotator: match by term: Achondrogenesis, type IA CTD Direct Evidence: marker/mechanism OMIM:200600
OMIM ClinVar CTD MouseDO
PMID:200899 PMID:2008997 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20089971 PMID:20307669 PMID:22406018 PMID:23956106 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28600779 PMID:29620724 PMID:29872333 PMID:30609409 PMID:30728324 PMID:31903676 PMID:33578785 PMID:34057271 More...
NCBI chr12:101,800,304...101,879,463
Ensembl chr12:101,800,302...101,879,526
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Ttc7b
tetratricopeptide repeat domain 7B
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:100,267,029...100,487,134
Ensembl chr12:100,267,029...100,487,085
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Ubr7
ubiquitin protein ligase E3 component n-recognin 7 (putative)
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:102,724,234...102,743,960
Ensembl chr12:102,724,226...102,743,966
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Unc79
unc-79 homolog
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr12:102,913,642...103,150,487
Ensembl chr12:102,915,118...103,150,324
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Aptx
aprataxin
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:40,682,078...40,703,206
Ensembl chr 4:40,682,382...40,703,194
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Aqp3
aquaporin 3
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:41,092,724...41,098,183
Ensembl chr 4:41,092,722...41,098,183
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Aqp7
aquaporin 7
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:41,033,074...41,048,237
Ensembl chr 4:41,033,074...41,048,139
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Arhgef39
Rho guanine nucleotide exchange factor 39
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,496,139...43,508,747
Ensembl chr 4:43,496,142...43,499,695
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Arid3c
AT-rich interaction domain 3C
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:41,723,830...41,731,226
Ensembl chr 4:41,723,836...41,731,142
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Atosb
atos homolog B
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,032,414...43,046,220
Ensembl chr 4:43,032,414...43,046,220
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B4galt1
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:40,804,602...40,855,711
Ensembl chr 4:40,804,602...40,854,005
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Bag1
BCL2-associated athanogene 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:40,936,398...40,948,294
Ensembl chr 4:40,936,398...40,948,294
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Car9
carbonic anhydrase 9
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,507,026...43,513,729
Ensembl chr 4:43,506,966...43,513,729
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Ccdc107
coiled-coil domain containing 107
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,493,365...43,495,921
Ensembl chr 4:43,492,900...43,495,921
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Ccin
calicin
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,983,504...43,985,533
Ensembl chr 4:43,983,483...43,985,423
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Ccl19
C-C motif chemokine ligand 19
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:42,754,525...42,756,558
Ensembl chr 4:42,754,525...42,756,577
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Ccl21a
C-C motif chemokine ligand 21 (serine)
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:42,772,860...42,773,991
Ensembl chr 4:42,772,860...42,773,993
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Ccl27a
C-C motif chemokine ligand 27A
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:41,769,467...41,774,251
Ensembl chr 4:41,769,467...41,774,247
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Cd72
CD72 antigen
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,447,724...43,454,708
Ensembl chr 4:43,446,462...43,454,628
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Chmp5
charged multivesicular body protein 5
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:40,948,553...40,965,302
Ensembl chr 4:40,948,407...40,965,303
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Cimip2b
ciliary microtubule inner protein 2B
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,427,014...43,431,451
Ensembl chr 4:43,427,019...43,429,134
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Clta
clathrin light chain A
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:44,003,816...44,032,846
Ensembl chr 4:44,004,452...44,032,846
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Cntfr
ciliary neurotrophic factor receptor
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:41,657,498...41,697,091
Ensembl chr 4:41,657,498...41,697,089
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Creb3
cAMP responsive element binding protein 3
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,562,658...43,567,061
Ensembl chr 4:43,562,332...43,567,060
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Dcaf12
DDB1 and CUL4 associated factor 12
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:41,291,300...41,316,749
Ensembl chr 4:41,291,300...41,314,889
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Dctn3
dynactin 3
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:41,714,798...41,723,213
Ensembl chr 4:41,714,798...41,723,170
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Dnai1
dynein axonemal intermediate chain 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:41,569,731...41,638,158
Ensembl chr 4:41,569,775...41,638,158
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Dnaja1
DnaJ heat shock protein family (Hsp40) member A1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:40,722,468...40,734,965
Ensembl chr 4:40,722,150...40,737,149
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Dnajb5
DnaJ heat shock protein family (Hsp40) member B5
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:42,949,866...42,959,425
Ensembl chr 4:42,949,814...42,959,425
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Enho
energy homeostasis associated
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:41,638,144...41,640,302
Ensembl chr 4:41,638,144...41,640,324
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Exosc3
exosome component 3
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:45,316,613...45,320,616
Ensembl chr 4:45,316,613...45,342,732
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Fam219a
family with sequence similarity 219, member A
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:41,517,691...41,569,538
Ensembl chr 4:41,517,691...41,569,538
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Fam221b
family with sequence similarity 221, member B
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,659,622...43,668,859
Ensembl chr 4:43,659,622...43,669,145
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Fancg
Fanconi anemia, complementation group G
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,002,337...43,010,565
Ensembl chr 4:43,002,343...43,010,506
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Fbxo10
F-box protein 10
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:45,034,248...45,084,555
Ensembl chr 4:45,034,247...45,084,604
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Frmpd1
FERM and PDZ domain containing 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:45,183,958...45,285,936
Ensembl chr 4:45,184,875...45,285,936
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Galt
galactose-1-phosphate uridyl transferase
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:41,755,517...41,759,243
Ensembl chr 4:41,755,228...41,758,695
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Gba2
glucosidase beta 2
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,566,928...43,578,893
Ensembl chr 4:43,566,928...43,578,873
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Glipr2
GLI pathogenesis-related 2
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,957,702...43,979,118
Ensembl chr 4:43,957,401...43,979,118
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Gne
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:44,034,075...44,084,177
Ensembl chr 4:44,034,075...44,084,177
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Grhpr
glyoxylate reductase/hydroxypyruvate reductase
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:44,981,394...44,990,734
Ensembl chr 4:44,981,395...44,990,734
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Hint2
histidine triad nucleotide binding protein 2
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,654,227...43,656,445
Ensembl chr 4:43,654,227...43,656,466
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Hrct1
histidine rich carboxyl terminus 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,727,198...43,728,110
Ensembl chr 4:43,727,188...43,728,639
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Il11ra1
interleukin 11 receptor subunit alpha 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:41,760,443...41,769,473
Ensembl chr 4:41,699,989...41,769,474
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Kif24
kinesin family member 24
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:41,389,774...41,464,918
Ensembl chr 4:41,390,745...41,464,887
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Melk
maternal embryonic leucine zipper kinase
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:44,300,876...44,364,301
Ensembl chr 4:44,300,876...44,364,675
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Msmp
microseminoprotein, prostate associated
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,583,216...43,584,494
Ensembl chr 4:43,583,216...43,584,494
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Myorg
myogenesis regulating glycosidase (putative)
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:41,495,601...41,503,132
Ensembl chr 4:41,495,604...41,503,076
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Ndufb6
NADH:ubiquinone oxidoreductase subunit B6
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:40,270,591...40,279,421
Ensembl chr 4:40,270,591...40,279,421
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Nfx1
nuclear transcription factor, X-box binding 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:40,970,906...41,025,992
Ensembl chr 4:40,970,906...41,025,993
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Nol6
nucleolar protein family 6 (RNA-associated)
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:41,114,427...41,124,450
Ensembl chr 4:41,114,427...41,124,455
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Npr2
natriuretic peptide receptor 2
ISO IAGP
ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type CTD Direct Evidence: marker/mechanism OMIM:602875
OMIM ClinVar CTD MouseDO
PMID:9536098 PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 PMID:17576681 PMID:18945719 PMID:22691581 PMID:23065701 PMID:24001744 PMID:24259409 PMID:24471569 PMID:25387261 PMID:25703509 PMID:25741868 PMID:25959430 PMID:26075495 PMID:26284228 PMID:26349192 PMID:26567084 PMID:26633542 PMID:26980729 PMID:27994189 PMID:28492532 PMID:30359775 PMID:30408610 PMID:30602027 PMID:30622824 PMID:31960617 PMID:31990356 PMID:32506268 PMID:32694885 PMID:32720985 PMID:33205215 PMID:33288834 PMID:34006472 PMID:34008892 PMID:34162036 PMID:34217350 PMID:35368703 PMID:35455946 More...
NCBI chr 4:43,629,015...43,651,437
Ensembl chr 4:43,631,935...43,651,244
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Nudt2
nudix hydrolase 2
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:41,465,085...41,480,926
Ensembl chr 4:41,465,151...41,480,926
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Or13c7
olfactory receptor family 13 subfamily C member 7
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,854,292...43,855,463
Ensembl chr 4:43,851,565...43,857,595
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Or13j1
olfactory receptor family 13 subfamily J member 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,705,628...43,706,566
Ensembl chr 4:43,704,562...43,710,255
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Pax5
paired box 5
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:44,524,748...44,710,694
Ensembl chr 4:44,524,757...44,710,487
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Phf24
PHD finger protein 24
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:42,872,619...42,944,752
Ensembl chr 4:42,916,660...42,944,752
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Pigo
phosphatidylinositol glycan anchor biosynthesis, class O
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,016,964...43,026,369
Ensembl chr 4:43,017,635...43,025,819
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Polr1e
polymerase (RNA) I polypeptide E
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:45,018,609...45,034,279
Ensembl chr 4:45,018,583...45,036,565
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Reck
reversion-inducing-cysteine-rich protein with kazal motifs
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,875,521...43,944,806
Ensembl chr 4:43,875,530...43,944,806
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Rgp1
RAB6A GEF compex partner 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,578,735...43,587,487
Ensembl chr 4:43,578,715...43,587,487
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Rigi
RNA sensor RIG-I
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:40,203,775...40,239,843
Ensembl chr 4:40,203,773...40,239,828
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Rmrp
RNA component of mitochondrial RNAase P
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,492,785...43,493,059
Ensembl chr 4:43,492,788...43,493,058 Ensembl chr 4:43,492,788...43,493,058
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Rnf38
ring finger protein 38
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:44,126,210...44,233,929
Ensembl chr 4:44,126,210...44,233,789
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Rpp25l
ribonuclease P/MRP 25 subunit-like
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:41,712,033...41,713,517
Ensembl chr 4:41,712,033...41,713,534
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Rusc2
RUN and SH3 domain containing 2
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,377,202...43,427,088
Ensembl chr 4:43,381,979...43,427,088
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Sigmar1
sigma non-opioid intracellular receptor 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:41,738,493...41,741,359
Ensembl chr 4:41,738,493...41,756,157
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Sit1
suppression inducing transmembrane adaptor 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,482,083...43,483,709
Ensembl chr 4:43,482,081...43,483,734
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Smu1
smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:40,735,649...40,757,885
Ensembl chr 4:40,736,542...40,757,923
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Spag8
sperm associated antigen 8
ISO
ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 PMID:18945719 PMID:22691581 PMID:25387261 PMID:25741868 PMID:26567084 PMID:26633542 PMID:28492532 PMID:30359775 PMID:30408610 PMID:30622824 PMID:31960617 PMID:32720985 More...
NCBI chr 4:43,651,330...43,653,594
Ensembl chr 4:43,651,335...43,653,594
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Spata31f1a
spermatogenesis associated 31 subfamily F member 1A
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:42,848,067...42,856,138
Ensembl chr 4:42,848,071...42,853,888 Ensembl chr 4:42,848,071...42,853,888
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Spata31g1
SPATA31 subfamily G member 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:42,969,946...42,974,325
Ensembl chr 4:42,969,604...42,983,640
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Spink4
serine peptidase inhibitor, Kazal type 4
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:40,920,056...40,931,395
Ensembl chr 4:40,920,052...40,931,395
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Spmip6
sperm microtubule inner protein 6
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:41,505,005...41,517,333
Ensembl chr 4:41,505,009...41,517,333
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Stoml2
stomatin (Epb7.2)-like 2
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,027,690...43,031,402
Ensembl chr 4:43,027,690...43,031,710
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Tesk1
testis specific protein kinase 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,442,277...43,448,075
Ensembl chr 4:43,441,939...43,448,064
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Tln1
talin 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,531,513...43,562,583
Ensembl chr 4:43,531,519...43,562,691
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Tmem215
transmembrane protein 215
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:40,472,180...40,475,653
Ensembl chr 4:40,472,180...40,477,168
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Tmem8b
transmembrane protein 8B
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,668,971...43,692,668
Ensembl chr 4:43,668,971...43,692,668
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Tomm5
translocase of outer mitochondrial membrane 5
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:45,105,209...45,108,113
Ensembl chr 4:45,105,208...45,108,114
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Topors
topoisomerase I binding, arginine/serine-rich
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:40,259,606...40,269,841
Ensembl chr 4:40,259,601...40,269,850
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Tpm2
tropomyosin 2, beta
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,513,726...43,523,583
Ensembl chr 4:43,514,711...43,523,765
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Trmt10b
tRNA methyltransferase 10B
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:45,297,158...45,316,181
Ensembl chr 4:45,297,127...45,316,131
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Try4
trypsin 4
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 6:41,279,206...41,282,467
Ensembl chr 6:41,279,203...41,282,466
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Ubap1
ubiquitin-associated protein 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:41,348,996...41,389,766
Ensembl chr 4:41,348,996...41,390,525
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Ubap2
ubiquitin-associated protein 2
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:41,194,313...41,276,016
Ensembl chr 4:41,194,313...41,275,144
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Ube2r2
ubiquitin-conjugating enzyme E2R 2
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:41,136,021...41,193,370
Ensembl chr 4:41,135,743...41,193,380
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Unc13b
unc-13 homolog B
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:43,046,193...43,264,873
Ensembl chr 4:43,058,953...43,264,871
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Vcp
valosin containing protein
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507
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Zbtb5
zinc finger and BTB domain containing 5
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:44,991,242...45,012,412
Ensembl chr 4:44,991,242...45,012,412
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Zcchc7
zinc finger, CCHC domain containing 7
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:44,756,556...44,932,215
Ensembl chr 4:44,755,877...44,932,215
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Mmp1a
matrix metallopeptidase 1a (interstitial collagenase)
susceptibility
ISO
DNA:insertion:promoter:g.-1607insG (human)
RGD
PMID:17502998
RGD:7207034
NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857
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Mmp1b
matrix metallopeptidase 1b (interstitial collagenase)
susceptibility
ISO
DNA:insertion:promoter:g.-1607insG (human)
RGD
PMID:17502998
RGD:7207034
NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047
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Chd6
chromodomain helicase DNA binding protein 6
ISO
ClinVar Annotator: match by term: Adult spinal cord ependymoma
ClinVar
NCBI chr 2:160,788,898...160,951,006
Ensembl chr 2:160,788,898...160,950,995
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Atrx
ATRX, chromatin remodeler
ISO
ClinVar Annotator: match by term: Astrocytoma, anaplastic
ClinVar
PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29910053 More...
NCBI chr X:104,841,221...104,972,978
Ensembl chr X:104,841,221...104,973,009
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Kras
Kirsten rat sarcoma viral oncogene homolog
ISO
mRNA:decreased expression:brain
RGD
PMID:19179066
RGD:13702872
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
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Trp53
transformation related protein 53
ISO
ClinVar Annotator: match by term: Astrocytoma, anaplastic
ClinVar
PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:2046748 PMID:4122735 PMID:7565304 PMID:7783166 PMID:8401536 PMID:8402598 PMID:8425176 PMID:8550239 PMID:8718514 PMID:8829627 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9667734 PMID:10519380 PMID:10922393 PMID:11370630 PMID:11782540 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15722483 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15958617 PMID:16206219 PMID:16401470 PMID:16494995 PMID:16551709 PMID:16818505 PMID:17015838 PMID:17311302 PMID:17606709 PMID:18511570 PMID:19012332 PMID:19468865 PMID:20128691 PMID:20407015 PMID:20522432 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22672556 PMID:22915647 PMID:23161690 PMID:23246812 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24573247 PMID:24835218 PMID:24857548 PMID:25157968 PMID:25186627 PMID:25584008 PMID:25619955 PMID:25741868 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26585234 PMID:26619011 PMID:26786923 PMID:26845104 PMID:26878390 PMID:26911350 PMID:27077130 PMID:27276561 PMID:27463065 PMID:27621308 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28975465 PMID:29581140 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30709381 PMID:30816478 PMID:32000721 PMID:32156018 PMID:32475984 PMID:32817165 PMID:32888145 PMID:33163847 PMID:33245408 PMID:33407742 PMID:33840814 PMID:34529667 PMID:34709361 PMID:35974385 PMID:36988593 More...
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Palb2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Anaplastic ependymoma
ClinVar
PMID:21285249 PMID:25085752 PMID:25741868 PMID:26315354 PMID:26467025 PMID:26580448 PMID:26689913 PMID:27616075 PMID:28492532 PMID:28678401 PMID:31636395 PMID:33471991 More...
NCBI chr 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208
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Rnf213
ring finger protein 213
ISO
ClinVar Annotator: match by term: Anaplastic ependymoma
ClinVar
PMID:26822237
NCBI chr11:119,280,778...119,378,245
Ensembl chr11:119,283,926...119,378,244
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Runx1
runt related transcription factor 1
ISO
ClinVar Annotator: match by term: Anaplastic ependymoma
ClinVar
PMID:23753029 PMID:25741868 PMID:26580448 PMID:28492532 PMID:28801348 PMID:29365323 More...
NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037
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Cic
capicua transcriptional repressor
ISO
ClinVar Annotator: match by term: Anaplastic oligodendroglioma
ClinVar
NCBI chr 7:24,967,054...24,993,584
Ensembl chr 7:24,967,129...24,993,584
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Arhgef39
Rho guanine nucleotide exchange factor 39
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,496,139...43,508,747
Ensembl chr 4:43,496,142...43,499,695
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Arid3c
AT-rich interaction domain 3C
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:41,723,830...41,731,226
Ensembl chr 4:41,723,836...41,731,142
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Atosb
atos homolog B
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,032,414...43,046,220
Ensembl chr 4:43,032,414...43,046,220
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Car9
carbonic anhydrase 9
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,507,026...43,513,729
Ensembl chr 4:43,506,966...43,513,729
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Ccdc107
coiled-coil domain containing 107
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:8034306 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:25741868 PMID:28094436 PMID:28492532 More...
NCBI chr 4:43,493,365...43,495,921
Ensembl chr 4:43,492,900...43,495,921
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Ccin
calicin
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,983,504...43,985,533
Ensembl chr 4:43,983,483...43,985,423
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Ccl19
C-C motif chemokine ligand 19
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:42,754,525...42,756,558
Ensembl chr 4:42,754,525...42,756,577
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Ccl21a
C-C motif chemokine ligand 21 (serine)
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:42,772,860...42,773,991
Ensembl chr 4:42,772,860...42,773,993
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Ccl27a
C-C motif chemokine ligand 27A
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:41,769,467...41,774,251
Ensembl chr 4:41,769,467...41,774,247
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Cd72
CD72 antigen
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,447,724...43,454,708
Ensembl chr 4:43,446,462...43,454,628
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Cimip2b
ciliary microtubule inner protein 2B
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,427,014...43,431,451
Ensembl chr 4:43,427,019...43,429,134
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Clta
clathrin light chain A
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:44,003,816...44,032,846
Ensembl chr 4:44,004,452...44,032,846
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Cntfr
ciliary neurotrophic factor receptor
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:41,657,498...41,697,091
Ensembl chr 4:41,657,498...41,697,089
G
Creb3
cAMP responsive element binding protein 3
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,562,658...43,567,061
Ensembl chr 4:43,562,332...43,567,060
G
Dctn3
dynactin 3
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:41,714,798...41,723,213
Ensembl chr 4:41,714,798...41,723,170
G
Dnai1
dynein axonemal intermediate chain 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:41,569,731...41,638,158
Ensembl chr 4:41,569,775...41,638,158
G
Dnajb5
DnaJ heat shock protein family (Hsp40) member B5
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:42,949,866...42,959,425
Ensembl chr 4:42,949,814...42,959,425
G
Enho
energy homeostasis associated
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:41,638,144...41,640,302
Ensembl chr 4:41,638,144...41,640,324
G
Fam219a
family with sequence similarity 219, member A
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:41,517,691...41,569,538
Ensembl chr 4:41,517,691...41,569,538
G
Fam221b
family with sequence similarity 221, member B
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,659,622...43,668,859
Ensembl chr 4:43,659,622...43,669,145
G
Fancg
Fanconi anemia, complementation group G
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,002,337...43,010,565
Ensembl chr 4:43,002,343...43,010,506
G
Galt
galactose-1-phosphate uridyl transferase
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:41,755,517...41,759,243
Ensembl chr 4:41,755,228...41,758,695
G
Gba2
glucosidase beta 2
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,566,928...43,578,893
Ensembl chr 4:43,566,928...43,578,873
G
Glipr2
GLI pathogenesis-related 2
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,957,702...43,979,118
Ensembl chr 4:43,957,401...43,979,118
G
Gm21586
predicted gene, 21586
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:42,438,686...42,448,653
Ensembl chr 4:42,438,970...42,439,970
G
Gne
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:44,034,075...44,084,177
Ensembl chr 4:44,034,075...44,084,177
G
Hint2
histidine triad nucleotide binding protein 2
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,654,227...43,656,445
Ensembl chr 4:43,654,227...43,656,466
G
Hrct1
histidine rich carboxyl terminus 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,727,198...43,728,110
Ensembl chr 4:43,727,188...43,728,639
G
Il11ra1
interleukin 11 receptor subunit alpha 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:41,760,443...41,769,473
Ensembl chr 4:41,699,989...41,769,474
G
Msmp
microseminoprotein, prostate associated
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,583,216...43,584,494
Ensembl chr 4:43,583,216...43,584,494
G
Myorg
myogenesis regulating glycosidase (putative)
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:41,495,601...41,503,132
Ensembl chr 4:41,495,604...41,503,076
G
Npr2
natriuretic peptide receptor 2
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,629,015...43,651,437
Ensembl chr 4:43,631,935...43,651,244
G
Or13c7
olfactory receptor family 13 subfamily C member 7
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,854,292...43,855,463
Ensembl chr 4:43,851,565...43,857,595
G
Or13j1
olfactory receptor family 13 subfamily J member 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,705,628...43,706,566
Ensembl chr 4:43,704,562...43,710,255
G
Phf24
PHD finger protein 24
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:42,872,619...42,944,752
Ensembl chr 4:42,916,660...42,944,752
G
Pigo
phosphatidylinositol glycan anchor biosynthesis, class O
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,016,964...43,026,369
Ensembl chr 4:43,017,635...43,025,819
G
Reck
reversion-inducing-cysteine-rich protein with kazal motifs
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,875,521...43,944,806
Ensembl chr 4:43,875,530...43,944,806
G
Rgp1
RAB6A GEF compex partner 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,578,735...43,587,487
Ensembl chr 4:43,578,715...43,587,487
G
Rmrp
RNA component of mitochondrial RNAase P
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:8034306 PMID:9156319 PMID:10026268 PMID:11152140 PMID:11207361 PMID:11370632 PMID:11701897 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:14569125 PMID:14608646 PMID:15780958 PMID:16097009 PMID:16244706 PMID:16252239 PMID:16254002 PMID:16630949 PMID:16832578 PMID:16838329 PMID:16941720 PMID:17015150 PMID:17189938 PMID:17489853 PMID:17701897 PMID:17937437 PMID:18164267 PMID:18804272 PMID:19626344 PMID:20112607 PMID:20375313 PMID:20808897 PMID:21063072 PMID:21146796 PMID:21204224 PMID:21396580 PMID:21570718 PMID:21813924 PMID:21956908 PMID:23315997 PMID:23810098 PMID:24009312 PMID:24217815 PMID:25616543 PMID:25663137 PMID:25741868 PMID:26279652 PMID:26915675 PMID:27484032 PMID:27569544 PMID:27862957 PMID:28094436 PMID:28492532 PMID:28743979 PMID:29744913 PMID:30102486 PMID:32021596 PMID:32888943 PMID:33444820 More...
NCBI chr 4:43,492,785...43,493,059
Ensembl chr 4:43,492,788...43,493,058 Ensembl chr 4:43,492,788...43,493,058
G
Rpp25l
ribonuclease P/MRP 25 subunit-like
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:41,712,033...41,713,517
Ensembl chr 4:41,712,033...41,713,534
G
Rusc2
RUN and SH3 domain containing 2
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,377,202...43,427,088
Ensembl chr 4:43,381,979...43,427,088
G
Sigmar1
sigma non-opioid intracellular receptor 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:41,738,493...41,741,359
Ensembl chr 4:41,738,493...41,756,157
G
Sit1
suppression inducing transmembrane adaptor 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,482,083...43,483,709
Ensembl chr 4:43,482,081...43,483,734
G
Spaar
small regulatory polypeptide of amino acid response
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,730,045...43,732,084
Ensembl chr 4:43,730,034...43,759,462
G
Spag8
sperm associated antigen 8
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,651,330...43,653,594
Ensembl chr 4:43,651,335...43,653,594
G
Spata31f1a
spermatogenesis associated 31 subfamily F member 1A
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:42,848,067...42,856,138
Ensembl chr 4:42,848,071...42,853,888 Ensembl chr 4:42,848,071...42,853,888
G
Spata31f3
spermatogenesis associated 31 subfamily F member 3
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:42,867,999...42,874,234
Ensembl chr 4:42,868,004...42,874,234
G
Spata31g1
SPATA31 subfamily G member 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:42,969,946...42,974,325
Ensembl chr 4:42,969,604...42,983,640
G
Spmip6
sperm microtubule inner protein 6
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:41,505,005...41,517,333
Ensembl chr 4:41,505,009...41,517,333
G
Stoml2
stomatin (Epb7.2)-like 2
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,027,690...43,031,402
Ensembl chr 4:43,027,690...43,031,710
G
Tesk1
testis specific protein kinase 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,442,277...43,448,075
Ensembl chr 4:43,441,939...43,448,064
G
Tln1
talin 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,531,513...43,562,583
Ensembl chr 4:43,531,519...43,562,691
G
Tmem8b
transmembrane protein 8B
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,668,971...43,692,668
Ensembl chr 4:43,668,971...43,692,668
G
Tpm2
tropomyosin 2, beta
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,513,726...43,523,583
Ensembl chr 4:43,514,711...43,523,765
G
Unc13b
unc-13 homolog B
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:43,046,193...43,264,873
Ensembl chr 4:43,058,953...43,264,871
G
Vcp
valosin containing protein
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507
G
Ccdc107
coiled-coil domain containing 107
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia 1
ClinVar
PMID:8034306 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:25741868 PMID:28094436 PMID:28492532 More...
NCBI chr 4:43,493,365...43,495,921
Ensembl chr 4:43,492,900...43,495,921
G
Pop1
processing of precursor 1, ribonuclease P/MRP family, (S. cerevisiae)
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr15:34,495,457...34,530,799
Ensembl chr15:34,495,450...34,530,794
G
Rmrp
RNA component of mitochondrial RNAase P
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia 1 | ClinVar Annotator: match by term: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, ANAUXETIC TYPE | ClinVar Annotator: match by term: Spondylometaepiphyseal dysplasia Menger type CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8034306 PMID:8723091 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11370632 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:14569125 PMID:14608646 PMID:15780958 PMID:16097009 PMID:16244706 PMID:16252239 PMID:16254002 PMID:16630949 PMID:16832578 PMID:16838329 PMID:16941720 PMID:17015150 PMID:17189938 PMID:17701897 PMID:17937437 PMID:18164267 PMID:18804272 PMID:19626344 PMID:20112607 PMID:20375313 PMID:21396580 PMID:21956908 PMID:23810098 PMID:24009312 PMID:24217815 PMID:25616543 PMID:25663137 PMID:25741868 PMID:27484032 PMID:27569544 PMID:28094436 PMID:28492532 PMID:29744913 PMID:32021596 PMID:32888943 More...
NCBI chr 4:43,492,785...43,493,059
Ensembl chr 4:43,492,788...43,493,058 Ensembl chr 4:43,492,788...43,493,058
G
Pop1
processing of precursor 1, ribonuclease P/MRP family, (S. cerevisiae)
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia 2
OMIM ClinVar
PMID:21455487 PMID:25741868 PMID:27380734 PMID:28067412 PMID:28492532 PMID:30408610 More...
NCBI chr15:34,495,457...34,530,799
Ensembl chr15:34,495,450...34,530,794
G
Nepro
nucleolus and neural progenitor protein
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia 3
OMIM ClinVar
PMID:25741868 PMID:26633546 PMID:29620724 PMID:31250547
NCBI chr16:44,544,645...44,559,994
Ensembl chr16:44,544,664...44,557,647
G
Ace
angiotensin I converting enzyme
susceptibility
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:22876137
RGD:7829800
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
G
Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:serum
RGD
PMID:21122270
RGD:5686891
NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
G
Ano6
anoctamin 6
severity
ISO
DNA:SNP: :rs17095830(human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22138694 PMID:23308121
RGD:9684849
NCBI chr15:95,688,724...95,873,353
Ensembl chr15:95,688,724...95,872,632
G
Antxr2
anthrax toxin receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062062 PMID:21743469
NCBI chr 5:98,032,547...98,178,876
Ensembl chr 5:98,030,642...98,178,902
G
Aspn
asporin
susceptibility
ISO
DNA:repeats:exon:
RGD
PMID:20144272
RGD:9684964
NCBI chr13:49,697,919...49,721,041
Ensembl chr13:49,697,919...49,721,041
G
Card9
caspase recruitment domain family, member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21743469
NCBI chr 2:26,242,199...26,250,957
Ensembl chr 2:26,242,188...26,250,930
G
Crp
C-reactive protein, pentraxin-related
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:22422197 PMID:6605119
RGD:6482308 , RGD:9491788
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
G
Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
DNA:polymorphism: :4887C>A (human)
RGD
PMID:12880680
RGD:1581252
NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107
G
Erap1
endoplasmic reticulum aminopeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17952073 PMID:20062062 PMID:21743469 PMID:23291587
NCBI chr13:74,787,692...74,841,321
Ensembl chr13:74,787,687...74,841,320
G
Fcgr4
Fc receptor, IgG, low affinity IV
severity
ISO
protein:decreased expression:polymorphonuclear leucocyte
RGD
PMID:8453794
RGD:5508388
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
G
H2-Aa
histocompatibility 2, class II antigen A, alpha
severity
ISO
DNA:polymorphism:cds:HLA-DQA1*0401 (human)
RGD
PMID:19565552
RGD:5147611
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
G
H2-Ab1
histocompatibility 2, class II antigen A, beta 1
severity
ISO
DNA:polymorphism:cds:HLA-DQB1*0603 (human)
RGD
PMID:19565552
RGD:5147611
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
G
H2-Eb1
histocompatibility 2, class II antigen E beta
severity
ISO
DNA:polymorphisms:cds:HLA-DRB1*0801, HLA-DRB1*0804 (human)
RGD
PMID:19565552
RGD:5147611
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
G
H2-M2
histocompatibility 2, M region locus 2
susceptibility no_association
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian) DNA:polymorphism:cds:HLA-B2705 (human)
CTD RGD
PMID:8053961 PMID:8733445 PMID:21743469 PMID:21927904 PMID:22138694
RGD:10755579 RGD:7364914
NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
G
H2-Q4
histocompatibility 2, Q region locus 4
susceptibility
ISO
DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian)
RGD
PMID:8733445
RGD:7364914
NCBI chr17:35,598,593...35,603,650
Ensembl chr17:35,598,593...35,604,266
G
Igfbp3
insulin-like growth factor binding protein 3
ISO
protein:decreased expression:serum
RGD
PMID:9851264
RGD:10402573
NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923
G
Il12b
interleukin 12b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21743469
NCBI chr11:44,290,890...44,305,504
Ensembl chr11:44,290,890...44,304,860
G
Il17a
interleukin 17A
treatment
ISO
RGD
PMID:24035250
RGD:9068448
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
G
Il1r2
interleukin 1 receptor, type II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062062
NCBI chr 1:40,123,872...40,164,390
Ensembl chr 1:40,113,239...40,164,391
G
Il23r
interleukin 23 receptor
no_association
ISO
DNA:SNPs,haplotype:multiple: CTD Direct Evidence: marker/mechanism DNA:SNP: :rs11209026(human)
CTD RGD
PMID:17952073 PMID:20062062 PMID:19522770 PMID:19877036
RGD:8549549 , RGD:8549630
NCBI chr 6:67,399,906...67,468,838
Ensembl chr 6:67,399,916...67,468,839
G
Il6
interleukin 6
ISO
protein:increased expression:serum:
RGD
PMID:26339141
RGD:12792209
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
G
Irak1
interleukin-1 receptor-associated kinase 1
susceptibility
ISO
DNA:SNP:enhancer: (rs3027898) (human)
RGD
PMID:20500689
RGD:7495783
NCBI chr X:73,057,520...73,067,527
Ensembl chr X:73,057,520...73,067,524
G
Jak2
Janus kinase 2
susceptibility
ISO
DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human)
RGD
PMID:20627814
RGD:6483025
NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480
G
Kdm5a
lysine demethylase 5A
susceptibility
ISO
DNA:snps:intron:IVST>A, IVS-1467C>T, IVS+828T>C (rs7134353, rs2284336, rs11062357) (human)
RGD
PMID:24069348
RGD:9588532
NCBI chr 6:120,341,060...120,421,535
Ensembl chr 6:120,341,085...120,421,535
G
Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:SNP:cds:677C>T (human)
RGD
PMID:25060515
RGD:42722610
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
G
Pgf
placental growth factor
ISO
RGD
PMID:21873332
RGD:6483576
NCBI chr12:85,213,413...85,224,087
Ensembl chr12:85,213,409...85,224,564
G
Psmb9
proteasome (prosome, macropain) subunit, beta type 9 (large multifunctional peptidase 2)
ISO
DNA: snp: rs17587
RGD
PMID:22034108
RGD:6483349
NCBI chr17:34,401,006...34,406,347
Ensembl chr17:34,400,961...34,406,738
G
Ptger4
prostaglandin E receptor 4 (subtype EP4)
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21743469 PMID:21743469
RGD:6483530
NCBI chr15:5,262,880...5,273,668
Ensembl chr15:5,236,142...5,273,668
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Runx3
runt related transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21743469
NCBI chr 4:134,847,956...134,905,301
Ensembl chr 4:134,847,963...134,905,301
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Tap1
transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
ISO
DNA:SNPs: :
RGD
PMID:19480848
RGD:6482250
NCBI chr17:34,406,530...34,416,199
Ensembl chr17:34,406,527...34,416,199
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Tap2
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
ISO
DNA:SNPs: :
RGD
PMID:19480848
RGD:6482250
NCBI chr17:34,423,453...34,435,295
Ensembl chr17:34,422,501...34,435,295
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Tbkbp1
TBK1 binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21743469
NCBI chr11:97,026,997...97,042,332
Ensembl chr11:97,026,997...97,042,321
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Thbd
thrombomodulin
ISO
protein:increased expression:serum
RGD
PMID:21556780
RGD:5684983
NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108
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Tlr4
toll-like receptor 4
ISO
mRNA:increased expression:blood cell:
RGD
PMID:20952467
RGD:7794744
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tlr5
toll-like receptor 5
ISO
mRNA:increased expression:blood cell:
RGD
PMID:20952467
RGD:7794744
NCBI chr 1:182,782,317...182,804,010
Ensembl chr 1:182,782,353...182,804,010
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Tnfrsf1b
tumor necrosis factor receptor superfamily, member 1b
ISO
RGD
PMID:21317434
RGD:5131280
NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440
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Vip
vasoactive intestinal polypeptide
ISO
protein:increased expression:plasma
RGD
PMID:20340024
RGD:5685387
NCBI chr10:5,589,131...5,597,617
Ensembl chr10:5,589,218...5,597,617
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Mir542
microRNA 542
disease_progression
ISO
RGD
PMID:26286747
RGD:13782052
NCBI chr X:52,138,280...52,138,364
Ensembl chr X:52,138,280...52,138,364
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
severity
ISO
RGD
PMID:26956052 PMID:26286747
RGD:11343921 , RGD:13782052
NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725
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4930550C14Rik
RIKEN cDNA 4930550C14 gene
ISO
ClinVar Annotator: match by term: Astroblastoma, MN1-altered
ClinVar
PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 PMID:26467025 PMID:26689913 PMID:26787654 PMID:28135145 PMID:28492532 PMID:28652578 PMID:28779002 PMID:30306255 PMID:30441849 PMID:31159747 PMID:31920950 PMID:32606146 PMID:33471991 PMID:34284872 PMID:35886069 More...
NCBI chr 9:53,313,814...53,345,726
Ensembl chr 9:53,313,625...53,345,702
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Atm
ataxia telangiectasia mutated
ISO
ClinVar Annotator: match by term: Astroblastoma, MN1-altered
ClinVar
PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 PMID:26467025 PMID:26689913 PMID:26787654 PMID:28135145 PMID:28492532 PMID:28652578 PMID:28779002 PMID:30306255 PMID:30441849 PMID:31159747 PMID:31920950 PMID:32606146 PMID:33471991 PMID:34284872 PMID:35886069 More...
NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
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Tsc2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Astroblastoma, MN1-altered
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604
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Slc26a2
solute carrier family 26 (sulfate transporter), member 2
ISO
ClinVar Annotator: match by term: Atelosteogenesis
ClinVar
NCBI chr18:61,329,926...61,344,668
Ensembl chr18:61,325,991...61,344,684
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Flnb
filamin, beta
ISO
ClinVar Annotator: match by term: Atelosteogenesis type I | ClinVar Annotator: match by term: Spondylohumerofemoral hypoplasia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:14991055 PMID:16752402 PMID:20301736 PMID:22190451 PMID:24624349 PMID:25741868 PMID:28492532 More...
NCBI chr14:14,518,185...14,651,852
Ensembl chr14:14,518,185...14,651,816
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Slc26a2
solute carrier family 26 (sulfate transporter), member 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atelosteogenesis type 2 | ClinVar Annotator: match by term: Atelosteogenesis type II | ClinVar Annotator: match by term: De la Chapelle dysplasia | ClinVar Annotator: match by term: NEONATAL OSSEOUS DYSPLASIA I | ClinVar Annotator: match by term: Neonatal osseous dysplasia 1
OMIM CTD ClinVar
PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 PMID:8702127 PMID:8723100 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11558903 PMID:11565064 PMID:11727031 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:15720248 PMID:16642506 PMID:17393463 PMID:18708426 PMID:18925670 PMID:19344236 PMID:20219950 PMID:20301483 PMID:20301493 PMID:20301524 PMID:20525296 PMID:20592910 PMID:20981092 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21228398 PMID:21922596 PMID:22052783 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29024831 PMID:30423444 PMID:31880411 PMID:34064542 More...
NCBI chr18:61,329,926...61,344,668
Ensembl chr18:61,325,991...61,344,684
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Flnb
filamin, beta
ISO
ClinVar Annotator: match by term: Atelosteogenesis type 3 | ClinVar Annotator: match by term: Atelosteogenesis type III CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:14991055 PMID:17576681 PMID:20301736 PMID:22190451 PMID:25741868 PMID:28492532 More...
NCBI chr14:14,518,185...14,651,852
Ensembl chr14:14,518,185...14,651,816
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Clcn7
chloride channel, voltage-sensitive 7
ISO IAGP
ClinVar Annotator: match by term: ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 2 OMIM:166600
OMIM ClinVar MouseDO
PMID:1516225 PMID:9536098 PMID:11468688 PMID:11741829 PMID:14584882 PMID:15111300 PMID:16118345 PMID:17164308 PMID:17576681 PMID:19238435 PMID:19543743 PMID:19953639 PMID:20301306 PMID:21527911 PMID:21947783 PMID:21962762 PMID:23296056 PMID:23983121 PMID:25741868 PMID:26056022 PMID:26365571 PMID:28492532 PMID:29620724 PMID:30229577 PMID:30942407 PMID:31412925 PMID:32369273 PMID:32552793 PMID:32860008 More...
NCBI chr17:25,352,353...25,381,077
Ensembl chr17:25,352,365...25,381,078
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Eef2
eukaryotic translation elongation factor 2
ISO
protein:increased expression:brain (human)
RGD
PMID:24589652
RGD:153297816
NCBI chr10:81,012,465...81,018,343
Ensembl chr10:81,012,465...81,018,332
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Mir139
microRNA 139
ISO
RNA:decreased expression:brain:
RGD
PMID:26449464
RGD:13838722
NCBI chr 7:101,124,583...101,124,650
Ensembl chr 7:101,124,583...101,124,650
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Ncam1
neural cell adhesion molecule 1
disease_progression
ISO
RGD
PMID:20219118
RGD:40924672
NCBI chr 9:49,413,434...49,710,909
Ensembl chr 9:49,413,436...49,710,225
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Sufu
SUFU negative regulator of hedgehog signaling
IEP
human, rat, and/or mouse glioma cells in a mouse model
RGD
PMID:30790292
RGD:150573813
NCBI chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243
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Adam3
ADAM metallopeptidase domain 3
ISO
DNA:deletion
RGD
PMID:21138945
RGD:13831351
NCBI chr 8:25,167,248...25,216,393
Ensembl chr 8:25,167,241...25,215,868
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Bax
BCL2-associated X protein
treatment
ISO
RGD
PMID:27255231 PMID:29324390
RGD:13792502 , RGD:13792598
NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322
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Bcl2
B cell leukemia/lymphoma 2
treatment
ISO
RGD
PMID:27255231 PMID:29324390
RGD:13792502 , RGD:13792598
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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Birc3
baculoviral IAP repeat-containing 3
exacerbates
ISO
mRNA:increased expression:brain (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187
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Birc5
baculoviral IAP repeat-containing 5
exacerbates
ISO
mRNA:increased expression:brain (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr11:117,740,063...117,746,569
Ensembl chr11:117,740,077...117,746,569
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Bst2
bone marrow stromal cell antigen 2
IEP
mRNA,protein:increased expression:brain:
RGD
PMID:21565182
RGD:14398497
NCBI chr 8:71,986,899...71,990,116
Ensembl chr 8:71,986,899...71,990,100
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Casp3
caspase 3
treatment
ISO
RGD
PMID:29324390
RGD:13792598
NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724
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Fadd
Fas associated via death domain
treatment
ISO
RGD
PMID:27255231
RGD:13792502
NCBI chr 7:144,132,060...144,136,178
Ensembl chr 7:144,131,055...144,136,200
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Fas
Fas cell surface death receptor
treatment
ISO
RGD
PMID:29324390
RGD:13792598
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Fasl
Fas ligand
treatment
ISO
RGD
PMID:29324390
RGD:13792598
NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064
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Foxa1
forkhead box A1
disease_progression
ISO
RGD
PMID:23510544
RGD:151665742
NCBI chr12:57,585,750...57,594,815
Ensembl chr12:57,587,414...57,593,702
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
RGD
PMID:26032618
RGD:13792685
NCBI chr 6:125,138,812...125,143,450
Ensembl chr 6:125,138,678...125,143,430
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Kdr
kinase insert domain protein receptor
ISO
protein:increased expression:brain (human)
RGD
PMID:33900414
RGD:151660356
NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
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Mir21a
microRNA 21a
ISO
human cells in mouse model; RNA:increased expression:brain (human)
RGD
PMID:25059666
RGD:152998875
NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984
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Naip2
NLR family, apoptosis inhibitory protein 2
exacerbates
ISO
mRNA:increased expression:brain (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr13:100,280,571...100,338,630
Ensembl chr13:100,280,571...100,338,600
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Ptprb
protein tyrosine phosphatase receptor type B
ISO
protein:increased expression:brain (human) human cell in mouse model
RGD
PMID:33900414 PMID:16923162
RGD:151660356 , RGD:151660368
NCBI chr10:116,111,407...116,225,443
Ensembl chr10:116,111,428...116,225,440
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:brain (human)
RGD
PMID:33900414
RGD:151660356
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Xrcc1
X-ray repair complementing defective repair in Chinese hamster cells 1
susceptibility
ISO
DNA:SNP:exon 10: p.R399Q (human)
RGD
PMID:18330515
RGD:401827274
NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865
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Xrcc3
X-ray repair complementing defective repair in Chinese hamster cells 3
susceptibility
ISO
DNA:SNP:exon 8: p.T241M (rs861539) (Human)
RGD
PMID:18330515
RGD:401827274
NCBI chr12:111,769,626...111,780,326
Ensembl chr12:111,769,626...111,780,307
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Pax3
paired box 3
IEP
mRNA,protein:increased expression:brain stem:
RGD
PMID:25330836
RGD:13702891
NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771
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Pdgfra
platelet derived growth factor receptor, alpha polypeptide
severity
ISO
RGD
PMID:20197468
RGD:13702892
NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876
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Gdf3
growth differentiation factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22613031
NCBI chr 6:122,582,362...122,587,046
Ensembl chr 6:122,582,362...122,587,046
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Myh7
myosin, heavy polypeptide 7, cardiac muscle, beta
ISO
ClinVar Annotator: match by term: Bent Spine Syndrome
ClinVar
PMID:12707239 PMID:23861362 PMID:24033266 PMID:24793961 PMID:25467552 PMID:25741868 PMID:25961035 PMID:26627873 PMID:26969127 PMID:27247418 PMID:27532257 PMID:28492532 PMID:29300372 PMID:30297972 PMID:31918855 PMID:32894683 PMID:33673806 PMID:34542152 More...
NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083
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Polg
polymerase (DNA directed), gamma
ISO
ClinVar Annotator: match by term: Bent Spine Syndrome
ClinVar
PMID:16621917 PMID:17452231 PMID:18546365 PMID:19189930 PMID:19578034 PMID:19752458 PMID:19815814 PMID:20227526 PMID:20301791 PMID:20803511 PMID:21856450 PMID:21880868 PMID:22647225 PMID:22727047 PMID:23808377 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27271921 PMID:28130605 PMID:28492532 More...
NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110
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Rrm2b
ribonucleotide reductase M2 B (TP53 inducible)
ISO
ClinVar Annotator: match by term: Bent Spine Syndrome
ClinVar
PMID:17486094 PMID:21378381 PMID:24741716 PMID:25741868 PMID:28492532 PMID:31521625 More...
NCBI chr15:37,924,196...37,961,562
Ensembl chr15:37,924,196...37,961,562
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Prdm13
PR domain containing 13
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: PRDM13-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:34730112
NCBI chr 4:21,675,865...21,685,963
Ensembl chr 4:21,677,480...21,685,963
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Msh6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Cerebellar medulloblastoma
ClinVar
NCBI chr17:88,282,478...88,298,320
Ensembl chr17:88,282,490...88,298,320
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Htra1
HtrA serine peptidase 1
ISO
ClinVar Annotator: match by term: CARASIL | ClinVar Annotator: match by term: CARASIL syndrome | ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease | ClinVar Annotator: match by term: HTRA1-related cerebral small vessel disease CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11889251 PMID:18316707 PMID:19387015 PMID:20437615 PMID:21115960 PMID:21482952 PMID:22900900 PMID:23963851 PMID:24500651 PMID:24535794 PMID:25506911 PMID:25741868 PMID:25770224 PMID:25772074 PMID:25957642 PMID:26063658 PMID:26467025 PMID:27164673 PMID:27353043 PMID:28492532 PMID:28782182 PMID:29561953 PMID:29895533 PMID:30859180 PMID:31316458 PMID:32101834 PMID:32581362 PMID:33268848 PMID:34220097 PMID:36047879 PMID:36253578 PMID:36261288 PMID:36380532 More...
NCBI chr 7:130,537,933...130,587,388
Ensembl chr 7:130,537,841...130,587,390
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Rtel1
regulator of telomere elongation helicase 1
ameliorates susceptibility
ISO
DNA:SNP:cds:rs6089953|rs6010620|rs2297440 (human) DNA:SNP:cds:rs4809324 (human)
RGD
PMID:26014354 PMID:26014354
RGD:152985535 , RGD:152985535
NCBI chr 2:180,961,504...180,998,409
Ensembl chr 2:180,961,532...180,998,409
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Mapk1
mitogen-activated protein kinase 1
ISO
protein:increased expression:brain:
RGD
PMID:21466243
RGD:13702864
NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317
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Prkca
protein kinase C, alpha
ISO
DNA:mutation:cds:c.1387G>C,p.D463H(human)
RGD
PMID:29476136
RGD:13782058
NCBI chr11:107,824,213...108,237,360
Ensembl chr11:107,824,213...108,234,754
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4933427D06Rik
RIKEN cDNA 4933427D06 gene
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 6:89,073,092...89,087,021
Ensembl chr 6:89,073,092...89,087,013
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Acod1
aconitate decarboxylase 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:103,284,448...103,294,009
Ensembl chr14:103,284,413...103,294,009
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Alg11
ALG11 alpha-1,2-mannosyltransferase
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 8:22,550,731...22,561,643
Ensembl chr 8:22,550,737...22,561,643
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Arl11
ADP-ribosylation factor-like 11
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:61,543,740...61,549,386
Ensembl chr14:61,547,202...61,549,385
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Atp7b
ATPase, Cu++ transporting, beta polypeptide
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 8:22,482,799...22,550,347
Ensembl chr 8:22,482,801...22,550,321
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Bora
bora, aurora kinase A activator
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:99,283,880...99,311,976
Ensembl chr14:99,283,658...99,311,976
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Cab39l
calcium binding protein 39-like
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:59,678,400...59,786,353
Ensembl chr14:59,678,421...59,823,213
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Ccdc70
coiled-coil domain containing 70
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 8:22,459,791...22,464,071
Ensembl chr 8:22,459,791...22,464,057
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Cdadc1
cytidine and dCMP deaminase domain containing 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:59,796,837...59,835,433
Ensembl chr14:59,796,837...59,835,408
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Ckap2
cytoskeleton associated protein 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 8:22,658,168...22,675,835
Ensembl chr 8:22,658,176...22,675,835
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Cln5
ceroid-lipofuscinosis, neuronal 5
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:103,307,679...103,315,064
Ensembl chr14:103,307,652...103,315,064
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Cnmd
chondromodulin
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:79,875,126...79,899,596
Ensembl chr14:79,875,130...79,899,610
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Commd6
COMM domain containing 6
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:101,871,202...101,877,907
Ensembl chr14:101,870,417...101,878,122
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Cysltr2
cysteinyl leukotriene receptor 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:73,263,043...73,286,554
Ensembl chr14:73,263,043...73,286,554
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Dach1
dachshund family transcription factor 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:98,024,294...98,407,208
Ensembl chr14:98,024,289...98,407,201
G
Diaph3
diaphanous related formin 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:86,892,793...87,378,683
Ensembl chr14:86,892,803...87,378,671
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Dis3
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:99,314,070...99,337,217
Ensembl chr14:99,312,642...99,337,206
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Dleu7
deleted in lymphocytic leukemia, 7
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:62,513,678...62,530,428
Ensembl chr14:62,513,680...62,530,496
G
Ebpl
emopamil binding protein-like
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:61,577,212...61,597,894
Ensembl chr14:61,569,191...61,597,888
G
Ednrb
endothelin receptor type B
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:104,052,055...104,081,764
Ensembl chr14:104,052,061...104,081,838
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Fam124a
family with sequence similarity 124, member A
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:62,793,186...62,845,935
Ensembl chr14:62,793,186...62,845,935
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Fbxl3
F-box and leucine-rich repeat protein 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:103,318,470...103,337,016
Ensembl chr14:103,317,675...103,337,002
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Fndc3a
fibronectin type III domain containing 3A
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:72,775,388...72,948,141
Ensembl chr14:72,775,386...72,947,443
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Gm4131
predicted gene 4131
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:62,699,937...62,718,604
Ensembl chr14:62,700,863...62,804,370
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Gm45935
predicted gene, 45935
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:59,618,282...59,678,329
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Ints6
integrator complex subunit 6
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:62,913,774...62,998,617
Ensembl chr14:62,913,779...62,998,618
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Itm2b
integral membrane protein 2B
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:73,599,666...73,622,729
Ensembl chr14:73,599,666...73,622,729
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Kcnrg
potassium channel regulator
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:61,844,905...61,850,282
Ensembl chr14:61,844,906...61,850,275
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Kctd12
potassium channel tetramerisation domain containing 12
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:103,214,017...103,220,073
Ensembl chr14:103,214,017...103,220,073
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Klf12
Kruppel-like transcription factor 12
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:100,103,617...100,719,681
Ensembl chr14:100,108,068...100,522,115
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Klf5
Kruppel-like transcription factor 5
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:99,536,127...99,550,848
Ensembl chr14:99,536,127...99,552,472
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Klhl1
kelch-like 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:96,342,695...96,756,525
Ensembl chr14:96,340,172...96,756,538
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Kpna3
karyopherin subunit alpha 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:61,602,635...61,677,396
Ensembl chr14:61,602,660...61,677,323
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Krtap21-1
keratin associated protein 21-1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr16:89,199,915...89,200,662
Ensembl chr16:89,200,106...89,200,756
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Lmo7
LIM domain only 7
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:101,967,353...102,172,144
Ensembl chr14:101,967,393...102,172,146
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Lpar6
lysophosphatidic acid receptor 6
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:73,475,331...73,477,798
Ensembl chr14:73,475,335...73,480,734
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Med4
mediator complex subunit 4
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:73,747,489...73,755,985
Ensembl chr14:73,747,465...73,756,289
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Mir15a
microRNA 15a
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:61,869,476...61,869,559
Ensembl chr14:61,869,476...61,869,559
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Mir16-1
microRNA 16-1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:61,869,329...61,869,421
Ensembl chr14:61,869,329...61,869,421
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Mir759
microRNA 759
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:79,975,871...79,975,968
Ensembl chr14:79,975,871...79,975,968
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Mycbp2
MYC binding protein 2, E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:103,350,847...103,584,276
Ensembl chr14:103,350,847...103,584,250
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Mzt1
mitotic spindle organizing protein 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:99,271,980...99,283,898
Ensembl chr14:99,271,980...99,283,570
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Ndfip2
Nedd4 family interacting protein 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:105,495,975...105,546,732
Ensembl chr14:105,496,008...105,546,732
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Nek3
NIMA (never in mitosis gene a)-related expressed kinase 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 8:22,618,299...22,657,009
Ensembl chr 8:22,618,299...22,656,451
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Nek5
NIMA (never in mitosis gene a)-related expressed kinase 5
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 8:22,563,631...22,615,443
Ensembl chr 8:22,563,632...22,615,069
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Nudt15
nudix hydrolase 15
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:73,756,320...73,785,682
Ensembl chr14:73,756,317...73,785,682
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Obi1
ORC ubiquitin ligase 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:104,714,970...104,760,148
Ensembl chr14:104,714,972...104,760,081
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Olfm4
olfactomedin 4
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:80,237,742...80,260,581
Ensembl chr14:80,221,521...80,260,579
G
Pcdh17
protocadherin 17
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:84,680,626...84,775,005
Ensembl chr14:84,681,003...84,776,442
G
Pcdh20
protocadherin 20
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:88,702,183...88,708,832
Ensembl chr14:88,702,179...88,708,832
G
Pcdh8
protocadherin 8
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:80,004,224...80,008,752
Ensembl chr14:80,004,215...80,008,752
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Pcdh9
protocadherin 9
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:93,251,136...94,132,619
Ensembl chr14:93,250,846...94,128,115
G
Phf11d
PHD finger protein 11D
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:59,584,646...59,608,004
Ensembl chr14:59,584,856...59,602,919
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Pibf1
progesterone immunomodulatory binding factor 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:99,336,892...99,492,335
Ensembl chr14:99,336,860...99,491,929
G
Pou4f1
POU domain, class 4, transcription factor 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:104,699,111...104,705,554
Ensembl chr14:104,699,112...104,705,435
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Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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Rbm26
RNA binding motif protein 26
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:105,344,187...105,418,475
Ensembl chr14:105,344,187...105,414,763
G
Rcbtb1
regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:59,438,471...59,474,716
Ensembl chr14:59,438,658...59,474,714
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Rcbtb2
regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:73,376,185...73,421,495
Ensembl chr14:73,360,477...73,445,283
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Rnaseh2b
ribonuclease H2, subunit B
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:62,569,517...62,610,445
Ensembl chr14:62,530,038...62,610,441
G
Scel
sciellin
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:103,750,499...103,850,782
Ensembl chr14:103,750,778...103,850,233
G
Serpine3
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:62,900,743...62,929,692
Ensembl chr14:62,901,116...62,929,692
G
Setdb2
SET domain, bifurcated 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:59,639,458...59,678,329
Ensembl chr14:59,639,458...59,678,333
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Slain1
SLAIN motif family, member 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:103,887,664...103,942,343
Ensembl chr14:103,887,664...103,942,343
G
Slitrk1
SLIT and NTRK-like family, member 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:109,147,420...109,151,671
Ensembl chr14:109,146,232...109,151,590
G
Slitrk6
SLIT and NTRK-like family, member 6
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:110,984,770...110,992,640
Ensembl chr14:110,986,012...110,992,581
G
Spry2
sprouty RTK signaling antagonist 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:106,129,381...106,134,559
Ensembl chr14:106,129,381...106,134,253
G
Spryd7
SPRY domain containing 7
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:61,769,300...61,794,335
Ensembl chr14:61,769,442...61,794,335
G
Sucla2
succinate-Coenzyme A ligase, ADP-forming, beta subunit
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:73,790,226...73,833,584
Ensembl chr14:73,762,759...73,833,582
G
Sugt1
SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:79,825,100...79,868,237
Ensembl chr14:79,825,131...79,872,636
G
Tbc1d4
TBC1 domain family, member 4
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:101,679,800...101,846,717
Ensembl chr14:101,679,796...101,846,627
G
Tdrd3
tudor domain containing 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:87,647,598...87,782,944
Ensembl chr14:87,654,075...87,782,940
G
Thsd1
thrombospondin, type I, domain 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 8:22,711,623...22,752,973
Ensembl chr 8:22,717,329...22,751,350
G
Trim13
tripartite motif-containing 13
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:61,835,675...61,847,736
Ensembl chr14:61,835,696...61,843,395
G
Uchl3
ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:101,891,387...101,933,561
Ensembl chr14:101,891,403...101,933,561
G
Vps36
vacuolar protein sorting 36
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 8:22,682,849...22,710,969
Ensembl chr 8:22,682,825...22,710,859
G
Wdfy2
WD repeat and FYVE domain containing 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:63,075,110...63,198,958
Ensembl chr14:63,075,127...63,198,958
G
Acyp2
acylphosphatase 2, muscle type
ISO
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
NCBI chr11:30,455,991...30,599,778
Ensembl chr11:30,455,991...30,599,587
G
Il1r1
interleukin 1 receptor, type I
ISO
ClinVar Annotator: match by term: Chronic multifocal osteomyelitis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
NCBI chr 1:40,261,651...40,355,361
Ensembl chr 1:40,264,240...40,356,417
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LOC110806267
Tert 5' regulatory region
ISO
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
PMID:16890917
NCBI chr13:73,770,663...73,775,510
G
Mlkl
mixed lineage kinase domain-like
ISO
ClinVar Annotator: match by term: Chronic multifocal osteomyelitis
ClinVar
NCBI chr 8:112,037,879...112,065,081
Ensembl chr 8:112,038,429...112,064,809
G
Mynn
myoneurin
ISO
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
NCBI chr 3:30,656,212...30,674,022
Ensembl chr 3:30,656,214...30,674,022
G
Pstpip2
proline-serine-threonine phosphatase-interacting protein 2
IAGP
OMIM:259680
MouseDO
NCBI chr18:77,882,250...77,971,462
Ensembl chr18:77,877,614...77,970,579
G
Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
PMID:16890917 PMID:28492532
NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962
G
Zbtb46
zinc finger and BTB domain containing 46
ISO
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
NCBI chr 2:181,012,105...181,134,776
Ensembl chr 2:181,029,555...181,101,219
G
Pax7
paired box 7
ISO
ClinVar Annotator: match by term: Myopathy, congenital, progressive, with scoliosis
OMIM ClinVar
PMID:25741868 PMID:31092906 PMID:32214227
NCBI chr 4:139,464,357...139,560,841
Ensembl chr 4:139,464,373...139,560,839
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Arid2
AT-rich interaction domain 2
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:26580448
NCBI chr15:96,185,403...96,303,344
Ensembl chr15:96,185,399...96,302,873
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Ctcf
CCCTC-binding factor
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
NCBI chr 8:106,351,135...106,409,554
Ensembl chr 8:106,363,200...106,409,554
G
Sufu
SUFU negative regulator of hedgehog signaling
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243
G
Slc29a1
solute carrier family 29 (nucleoside transporters), member 1
IAGP
OMIM:106400
MouseDO
NCBI chr17:45,896,126...45,910,544
Ensembl chr17:45,896,126...45,910,532
G
Acvr1
activin A receptor, type 1
ISO
ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma
ClinVar
PMID:24705250 PMID:24705254 PMID:26619011 PMID:31779674
NCBI chr 2:58,336,450...58,456,840
Ensembl chr 2:58,278,656...58,457,169
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Brip1
BRCA1 interacting protein C-terminal helicase 1
ISO
ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma
ClinVar
PMID:16116424 PMID:16116426 PMID:16973432 PMID:18510924 PMID:19099189 PMID:19150983 PMID:19379763 PMID:19442249 PMID:19519404 PMID:20639400 PMID:20980836 PMID:21345144 PMID:22024395 PMID:22287629 PMID:22582397 PMID:23161009 PMID:23276657 PMID:23644138 PMID:23935105 PMID:24448499 PMID:24487782 PMID:24573678 PMID:24728327 PMID:24895130 PMID:25374583 PMID:25583461 PMID:25741868 PMID:26315354 PMID:26596371 PMID:26689913 PMID:26790966 PMID:26921362 PMID:27107905 PMID:28492532 PMID:28911102 PMID:29922827 PMID:30322717 PMID:31265121 PMID:31341520 PMID:31822495 PMID:32427313 PMID:32542039 PMID:33028645 PMID:33471991 PMID:33619228 PMID:34585738 More...
NCBI chr11:85,948,957...86,092,041
Ensembl chr11:85,948,964...86,092,019
G
Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
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Alk
anaplastic lymphoma kinase
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:72,174,206...72,911,719
Ensembl chr17:72,175,967...72,911,622
G
Brca2
breast cancer 2, early onset
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794
G
Cdk4
cyclin dependent kinase 4
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789
G
Fanca
Fanconi anemia, complementation group A
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:25741868
NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315
G
Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412
G
Idh1
isocitrate dehydrogenase 1 (NADP+), soluble
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:25741868
NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659
G
Kdm5b
lysine demethylase 5B
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:25741868
NCBI chr 1:134,487,916...134,560,621
Ensembl chr 1:134,487,909...134,563,023
G
Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:25741868 PMID:26740943 PMID:28492532 PMID:29684080 PMID:31882575
NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
G
Pms2
PMS1 homolog2, mismatch repair system component
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:23435383 PMID:25741868 PMID:28492532 PMID:35451539
NCBI chr 5:143,846,379...143,922,538
Ensembl chr 5:143,846,782...143,870,786 Ensembl chr 5:143,846,782...143,870,786
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Ret
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:22648184 PMID:25741868 PMID:28492532 PMID:28946813 PMID:31159747 PMID:32091409 PMID:33981013 More...
NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679
G
Sdha
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:74,470,374...74,498,359
Ensembl chr13:74,470,373...74,498,399
G
Trp53
transformation related protein 53
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:1349175 PMID:1565143 PMID:1565144 PMID:1631137 PMID:8401536 PMID:8402598 PMID:8425176 PMID:8718514 PMID:8829627 PMID:11370630 PMID:11782540 PMID:12826609 PMID:15958617 PMID:16206219 PMID:16818505 PMID:17015838 PMID:17606709 PMID:19012332 PMID:19468865 PMID:20407015 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22672556 PMID:22915647 PMID:23161690 PMID:23246812 PMID:24573247 PMID:24857548 PMID:25186627 PMID:25584008 PMID:25619955 PMID:25741868 PMID:25952993 PMID:26014290 PMID:26230955 PMID:26585234 PMID:26619011 PMID:26845104 PMID:26878390 PMID:26911350 PMID:27077130 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28975465 PMID:29581140 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30709381 PMID:30816478 PMID:32000721 PMID:32475984 PMID:33407742 More...
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Tspan31
tetraspanin 31
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:126,903,156...126,906,977
Ensembl chr10:126,903,149...126,906,133
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Dym
dymeclin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndrome
OMIM CTD ClinVar
PMID:12161821 PMID:12491225 PMID:12554689 PMID:16097008 PMID:16199547 PMID:18996921 PMID:22090722 PMID:25741868 PMID:28492532 PMID:32886330 More...
NCBI chr18:75,151,772...75,420,037
Ensembl chr18:75,151,852...75,420,035
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Braf
Braf transforming gene
ISO
DNA:mutation:cds:p.V600E(human)
RGD
PMID:25346165
RGD:11567238
NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397
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Aqp1
aquaporin 1
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar
PMID:28492532
NCBI chr 6:55,313,284...55,325,540
Ensembl chr 6:55,313,417...55,325,540
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Crhr2
corticotropin releasing hormone receptor 2
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar
PMID:28492532
NCBI chr 6:55,067,033...55,110,001
Ensembl chr 6:55,067,034...55,110,001
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Fkbp14
FK506 binding protein 14
ISO
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22265013 PMID:24677762 PMID:25741868 PMID:26467025 PMID:27149304 PMID:27905128 PMID:28492532 PMID:28617417 PMID:30561154 PMID:31063316 PMID:31132235 PMID:31428121 PMID:33587123 PMID:34504686 PMID:36054293 PMID:36553464 More...
NCBI chr 6:54,554,590...54,574,329
Ensembl chr 6:54,554,589...54,574,293
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Gars1
glycyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar
PMID:28492532
NCBI chr 6:55,014,986...55,056,489
Ensembl chr 6:55,014,992...55,056,485
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Ggct
gamma-glutamyl cyclotransferase
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar
PMID:28492532
NCBI chr 6:54,962,080...54,969,947
Ensembl chr 6:54,959,565...54,969,935
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Ghrhr
growth hormone releasing hormone receptor
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar
PMID:28492532
NCBI chr 6:55,353,204...55,365,515
Ensembl chr 6:55,353,280...55,365,515
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Inmt
indolethylamine N-methyltransferase
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar
PMID:28492532
NCBI chr 6:55,147,612...55,151,975
Ensembl chr 6:55,147,611...55,152,028
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Mindy4
MINDY lysine 48 deubiquitinase 4
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar
PMID:28492532
NCBI chr 6:55,180,337...55,297,208
Ensembl chr 6:55,180,368...55,297,207
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Mturn
maturin, neural progenitor differentiation regulator homolog (Xenopus)
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar
PMID:28492532
NCBI chr 6:54,658,609...54,680,840
Ensembl chr 6:54,658,609...54,680,836
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Nod1
nucleotide-binding oligomerization domain containing 1
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar
PMID:28492532
NCBI chr 6:54,900,927...54,949,655
Ensembl chr 6:54,900,934...54,949,597
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Plekha8
pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar
PMID:28492532
NCBI chr 6:54,571,883...54,622,808
Ensembl chr 6:54,572,096...54,622,824
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Znrf2
zinc and ring finger 2
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar
PMID:28492532
NCBI chr 6:54,793,901...54,867,209
Ensembl chr 6:54,793,901...54,870,485
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Bcl7c
B cell CLL/lymphoma 7C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26075792
NCBI chr 7:127,260,626...127,307,938
Ensembl chr 7:127,260,628...127,308,105
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Ephb2
Eph receptor B2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26075792
NCBI chr 4:136,374,850...136,563,637
Ensembl chr 4:136,374,850...136,563,299
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Gdnf
glial cell line derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19138852
NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056
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Igf2
insulin-like growth factor 2
ISO
mRNA:increased expression:cerebellum
RGD
PMID:18478565
RGD:5509961
NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553
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Rab3a
RAB3A, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26075792
NCBI chr 8:71,207,258...71,211,276
Ensembl chr 8:71,207,328...71,211,323
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Rtbdn
retbindin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26075792
NCBI chr 8:85,672,880...85,683,235
Ensembl chr 8:85,673,620...85,683,232
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Shc3
src homology 2 domain-containing transforming protein C3
ISO
DNA:amplification:brain:
RGD
PMID:19748727
RGD:13782069
NCBI chr13:51,577,422...51,724,909
Ensembl chr13:51,585,077...51,723,523
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Zfp668
zinc finger protein 668
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26075792
NCBI chr 7:127,460,197...127,476,008
Ensembl chr 7:127,462,219...127,476,000
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Dcc
deleted in colorectal carcinoma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28250456
NCBI chr18:71,386,703...72,484,299
Ensembl chr18:71,386,705...72,484,140
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Robo3
roundabout guidance receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:37,327,341...37,344,730
Ensembl chr 9:37,326,965...37,344,542
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Robo3
roundabout guidance receptor 3
ISO
ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1
OMIM ClinVar
PMID:15105459 PMID:16525029 PMID:16772357 PMID:18829051 PMID:19041479 PMID:19633821 PMID:21850172 PMID:24969490 PMID:25326635 PMID:25741868 PMID:27318526 PMID:28024310 PMID:28492532 PMID:29215389 PMID:32373565 PMID:32580277 PMID:32860008 PMID:34374989 More...
NCBI chr 9:37,327,341...37,344,730
Ensembl chr 9:37,326,965...37,344,542
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Dcc
deleted in colorectal carcinoma
ISO
ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2
OMIM ClinVar
PMID:25741868 PMID:28250456 PMID:28492532
NCBI chr18:71,386,703...72,484,299
Ensembl chr18:71,386,705...72,484,140
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Rb1
RB transcriptional corepressor 1
ISO
DNA:mutations:promoter, intron, exon:multiple ClinVar Annotator: match by term: Hereditary retinoblastoma
ClinVar RGD
PMID:7881418 PMID:8346255 PMID:8605116 PMID:8651278 PMID:9536098 PMID:9671401 PMID:10486322 PMID:10617920 PMID:10671068 PMID:11668642 PMID:12541220 PMID:15884040 PMID:16269091 PMID:17096365 PMID:17576681 PMID:18449911 PMID:18677112 PMID:22084214 PMID:25741868 PMID:25754945 PMID:28492532 PMID:17096365 More...
RGD:8547984
NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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Kras
Kirsten rat sarcoma viral oncogene homolog
ISO
mRNA:decreased expression:brain
RGD
PMID:19179066
RGD:13702872
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
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4930550C14Rik
RIKEN cDNA 4930550C14 gene
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:9054948 PMID:19781682 PMID:23322442 PMID:23807571 PMID:25525159 PMID:25614872 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr 9:53,313,814...53,345,726
Ensembl chr 9:53,313,625...53,345,702
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Actr3
ARP3 actin-related protein 3
ISO
mRNA:increased expression:brain (human)
RGD
PMID:25682201
RGD:11570557
NCBI chr 1:125,320,642...125,363,464
Ensembl chr 1:125,320,642...125,363,464
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Adgrb1
adhesion G protein-coupled receptor B1
treatment
ISO
mRNA:decreased expression:brain:
RGD
PMID:16244591 PMID:12507886
RGD:13831352 , RGD:13831355
NCBI chr15:74,388,045...74,461,314
Ensembl chr15:74,388,044...74,461,314
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Adgrl4
adhesion G protein-coupled receptor L4
treatment severity
IMP ISO
RGD
PMID:27416955 PMID:23096411 PMID:23096411
RGD:13838664 , RGD:13838665 , RGD:13838665
NCBI chr 3:151,143,519...151,250,718
Ensembl chr 3:151,143,524...151,250,723
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Akt1
thymoma viral proto-oncogene 1
IMP
RGD
PMID:10802656
RGD:734543
NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318
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Akt3
thymoma viral proto-oncogene 3
disease_progression
ISO
RGD
PMID:27422127
RGD:13674164
NCBI chr 1:176,847,642...177,091,688
Ensembl chr 1:176,847,639...177,085,769
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Apc
APC, WNT signaling pathway regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7661930
NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605
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Arrb2
arrestin, beta 2
ameliorates
ISO
RGD
PMID:34007068
RGD:401938608
NCBI chr11:70,323,051...70,331,654
Ensembl chr11:70,323,461...70,331,654
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Aspm
abnormal spindle microtubule assembly
ISO
mRNA:increased expression:brain:
RGD
PMID:18636190
RGD:13439742
NCBI chr 1:139,381,450...139,421,826
Ensembl chr 1:139,382,510...139,421,829
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Atm
ataxia telangiectasia mutated
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:9054948 PMID:19781682 PMID:23322442 PMID:23807571 PMID:25525159 PMID:25614872 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
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Atrx
ATRX, chromatin remodeler
disease_progression
ISO
ClinVar Annotator: match by term: Glioblastoma multiforme, somatic
ClinVar RGD
PMID:27478330
RGD:13442489
NCBI chr X:104,841,221...104,972,978
Ensembl chr X:104,841,221...104,973,009
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Bag3
BCL2-associated athanogene 3
treatment
ISO
RGD
PMID:21561597
RGD:5687132
NCBI chr 7:128,125,307...128,148,705
Ensembl chr 7:128,125,340...128,148,705
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Bche
butyrylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2317787
NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748
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Becn1
beclin 1, autophagy related
disease_progression
ISO
RGD
PMID:20863706
RGD:6483102
NCBI chr11:101,179,084...101,193,112
Ensembl chr11:101,176,778...101,193,112
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Bhlhe40
basic helix-loop-helix family, member e40
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23582323
NCBI chr 6:108,637,590...108,643,886
Ensembl chr 6:108,637,590...108,643,886
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Birc3
baculoviral IAP repeat-containing 3
exacerbates
ISO
mRNA:increased expression:brain (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187
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Bmi1
Bmi1 polycomb ring finger oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19823589
NCBI chr 2:18,681,953...18,691,440
Ensembl chr 2:18,681,829...18,691,440
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Braf
Braf transforming gene
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16439621 PMID:16474404 PMID:16772349 PMID:16825433 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18039235 PMID:18398503 PMID:18413255 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19376813 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25463315 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28492532 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627 PMID:34476331 More...
NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397
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Brd2
bromodomain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27388964
NCBI chr17:34,330,993...34,341,581
Ensembl chr17:34,330,997...34,341,608
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Brd4
bromodomain containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26455392 PMID:27388964
NCBI chr17:32,415,246...32,503,717
Ensembl chr17:32,415,248...32,503,696
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Brd7
bromodomain containing 7
ISO
protein:increased expression:brain:
RGD
PMID:24404152
RGD:9586441
NCBI chr 8:89,056,522...89,089,249
Ensembl chr 8:89,057,667...89,088,822
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Cbx6
chromobox 6
disease_progression
ISO
mRNA,protein:decreased expression:astrocyte:
RGD
PMID:24260522
RGD:9587354
NCBI chr15:79,708,099...79,718,534
Ensembl chr15:79,708,097...79,718,889
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Cbx7
chromobox 7
disease_progression
ISO
mRNA,protein:decreased expression:astrocyte:
RGD
PMID:24260522
RGD:9587354
NCBI chr15:79,800,005...79,855,344
Ensembl chr15:79,800,008...79,855,320
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Cbx8
chromobox 8
ISO
mRNA:increased expression:astrocyte:
RGD
PMID:24260522
RGD:9587354
NCBI chr11:118,929,262...118,931,739
Ensembl chr11:118,927,131...118,931,795
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Ccnh
cyclin H
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr13:85,337,504...85,361,850
Ensembl chr13:85,337,527...85,371,588
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Cd9
CD9 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26573230
NCBI chr 6:125,437,229...125,471,723
Ensembl chr 6:125,437,229...125,471,754
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Cdk4
cyclin dependent kinase 4
ISO
DNA:amplication
RGD
PMID:23796897
RGD:13702089
NCBI chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789
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Cdk6
cyclin dependent kinase 6
severity
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20534551 PMID:10884881
RGD:13702095
NCBI chr 5:3,391,004...3,581,008
Ensembl chr 5:3,391,485...3,581,008
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Cdkn2a
cyclin dependent kinase inhibitor 2A
treatment
ISO
RGD
PMID:10720483
RGD:8552659
NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
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Chaf1b
chromatin assembly factor 1, subunit B
ISO
protein:increased expression:brain:
RGD
PMID:24039914
RGD:9587472
NCBI chr16:93,680,801...93,703,003
Ensembl chr16:93,680,789...93,703,003
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Chi3l1
chitinase 3 like 1
ISO
mRNA:increased expression:brain, tumor (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21029458 PMID:11161003
RGD:4892621
NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919
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Cpeb1
cytoplasmic polyadenylation element binding protein 1
disease_progression
ISO
RGD
PMID:23360795
RGD:9685152
NCBI chr 7:80,996,774...81,105,207
Ensembl chr 7:80,996,774...81,105,213
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861
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Csta2
cystatin A family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22287159
NCBI chr16:36,041,932...36,077,813
Ensembl chr16:36,041,838...36,077,810
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Cstb
cystatin B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22287159
NCBI chr10:78,261,504...78,263,456
Ensembl chr10:78,261,503...78,263,456
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Ctnnd2
catenin delta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23917401
NCBI chr15:30,172,680...31,029,490
Ensembl chr15:30,172,739...31,029,487
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Ctsb
cathepsin B
ISO
protein:increased expression:glioma cell (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22287159 PMID:17898873
RGD:2315515
NCBI chr14:63,359,911...63,383,372
Ensembl chr14:63,359,911...63,383,372
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Ctsh
cathepsin H
ISO
protein:increased expression:brain
RGD
PMID:8640738
RGD:1549417
NCBI chr 9:89,936,320...89,958,148
Ensembl chr 9:89,936,205...89,958,142
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Ctsk
cathepsin K
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25356585
NCBI chr 3:95,406,521...95,416,698
Ensembl chr 3:95,406,567...95,416,673
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Cxcl15
C-X-C motif chemokine ligand 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16356833
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Deup1
deuterosome assembly protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 9:15,471,160...15,539,646
Ensembl chr 9:15,471,160...15,539,229
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Dmbt1
deleted in malignant brain tumors 1
ISO
DNA:deletion
RGD
PMID:9288095
RGD:1599778
NCBI chr 7:130,633,787...130,723,357
Ensembl chr 7:130,633,776...130,723,357
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Dnmt3a
DNA methyltransferase 3A
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
NCBI chr12:3,851,559...3,964,442
Ensembl chr12:3,856,007...3,964,443
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Dusp6
dual specificity phosphatase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21499306
NCBI chr10:99,098,676...99,103,351
Ensembl chr10:99,099,093...99,103,351
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E2f1
E2F transcription factor 1
disease_progression
ISO
RGD
PMID:16264179
RGD:13702471
NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812
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Egf
epidermal growth factor
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter:+61A>G(human)
CTD RGD
PMID:16598420 PMID:22481252
RGD:13702472
NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma multiforme, somatic
CTD ClinVar
PMID:2302402 PMID:15118073 PMID:15118125 PMID:15329413 PMID:15710947 PMID:15738541 PMID:16011858 PMID:16115929 PMID:17177598 PMID:18199554 PMID:18458038 PMID:19204207 PMID:19536777 PMID:19671738 PMID:19922469 PMID:20479403 PMID:21531810 PMID:21841502 PMID:22753918 PMID:23102728 PMID:23242437 PMID:23917401 PMID:23945392 PMID:24033266 PMID:25157968 PMID:26455392 PMID:26619011 PMID:28492532 PMID:31396478 More...
NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
severity
ISO
protein:increased expression:brain (human)
RGD
PMID:21195542
RGD:13204719
NCBI chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
treatment
ISO
RGD
PMID:25595591
RGD:14928319
NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275
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Fabp7
fatty acid binding protein 7, brain
severity
ISO
mRNA, protein:increased expression:brain (human)
RGD
PMID:15827123
RGD:1578468
NCBI chr10:57,661,019...57,664,546
Ensembl chr10:57,660,977...57,664,546
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Fam83d
family with sequence similarity 83, member D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35150198
NCBI chr 2:158,610,011...158,628,557
Ensembl chr 2:158,610,013...158,628,557
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Fat1
FAT atypical cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23354438
NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294
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Fbxw7
F-box and WD-40 domain protein 7
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:26619011
NCBI chr 3:84,721,901...84,886,505
Ensembl chr 3:84,722,575...84,886,505
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Fgfr1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:25705862 PMID:26619011 PMID:26942290 PMID:33448156
NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
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Flt3l
FMS-like tyrosine kinase 3 ligand
treatment
ISO
RGD
PMID:18079358
RGD:11049502
NCBI chr 7:44,780,607...44,785,914
Ensembl chr 7:44,779,212...44,785,856
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Fn1
fibronectin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17099729
NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359
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Fosl2
fos-like antigen 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23582323
NCBI chr 5:32,292,599...32,315,184
Ensembl chr 5:32,293,145...32,315,186
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Fxn
frataxin
ISO
RGD
PMID:21863062
RGD:401793715
NCBI chr19:24,236,909...24,257,954
Ensembl chr19:24,238,817...24,257,969
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Gdnf
glial cell line derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19138852
NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056
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Grik2
glutamate receptor, ionotropic, kainate 2 (beta 2)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr10:48,969,776...49,666,523
Ensembl chr10:48,970,929...49,664,862
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Gstt1
glutathione S-transferase, theta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16874663
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
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H2ax
H2A.X variant histone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26651356
NCBI chr 9:44,246,012...44,247,374
Ensembl chr 9:44,245,991...44,247,374
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H3f3a
H3.3 histone A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glioblastoma
CTD ClinVar
PMID:22286216 PMID:23817572 PMID:26619011 PMID:26822237
NCBI chr 1:180,630,125...180,641,127
Ensembl chr 1:180,628,397...180,641,508
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Heatr1
HEAT repeat containing 1
ISO
mRNA, protein:increased expression:brain
RGD
PMID:25126583
RGD:10761721
NCBI chr13:12,410,256...12,453,774
Ensembl chr13:12,409,908...12,455,170
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Hes1
hes family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr16:29,883,259...29,886,614
Ensembl chr16:29,883,202...29,886,614
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Hey1
hairy/enhancer-of-split related with YRPW motif 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 3:8,728,419...8,732,098
Ensembl chr 3:8,728,419...8,732,316
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Hif1a
hypoxia inducible factor 1, alpha subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12811834
NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304
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Hoxd10
homeobox D10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34737577
NCBI chr 2:74,514,617...74,525,450
Ensembl chr 2:74,522,268...74,525,449
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Hras
Harvey rat sarcoma virus oncogene
severity
IMP ISO
DNA:missense mutation:cds:p.G61L(human) ClinVar Annotator: match by term: Glioblastoma
ClinVar RGD
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32165824 PMID:32371413 PMID:33372952 PMID:34008892 PMID:20879984 PMID:19179066 More...
RGD:13702475 , RGD:13702872
NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918
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Idh1
isocitrate dehydrogenase 1 (NADP+), soluble
disease_progression onset
ISO
DNA:mutation:cds:p.R132(human) ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic DNA:mutation:cds:p.R132H(human)
ClinVar RGD
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 PMID:25495392 PMID:19765000 More...
RGD:11074562 , RGD:11522732
NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659
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Il16
interleukin 16
ISO
protein:increased expression:brain
RGD
PMID:17221335
RGD:5024941
NCBI chr 7:83,292,027...83,395,479
Ensembl chr 7:83,292,033...83,394,934
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16356833
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il2
interleukin 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7719933
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
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Jag1
jagged 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564
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Jag2
jagged 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr12:112,871,439...112,893,437
Ensembl chr12:112,871,439...112,893,396
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Kcnc2
potassium voltage gated channel, Shaw-related subfamily, member 2
ISO
mRNA:splice variant (human)
RGD
PMID:18474104
RGD:9686067
NCBI chr10:112,105,803...112,302,209
Ensembl chr10:112,107,026...112,302,929
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Kdr
kinase insert domain protein receptor
treatment
ISO
RGD
PMID:26325365
RGD:11529678
NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
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Kras
Kirsten rat sarcoma viral oncogene homolog
treatment
IMP ISO
mRNA:decreased expression:brain
RGD
PMID:16166301 PMID:19179066
RGD:13702861 , RGD:13702872
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
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L1cam
L1 cell adhesion molecule
ISO
mRNA:decreased expression:brain, temporal lobe (human)
RGD
PMID:20419098
RGD:6483067
NCBI chr X:72,897,384...72,924,843
Ensembl chr X:72,897,384...72,939,711
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32165824 PMID:32371413 PMID:33372952 PMID:34008892 More...
NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968
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Lrrc59
leucine rich repeat containing 59
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr11:94,520,603...94,536,049
Ensembl chr11:94,520,593...94,536,042
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Ltbp4
latent transforming growth factor beta binding protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27270107
NCBI chr 7:27,004,566...27,039,142
Ensembl chr 7:27,004,561...27,037,117
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Lztr1
leucine-zipper-like transcriptional regulator, 1
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human)
CTD RGD
PMID:23917401 PMID:23917401
RGD:151708722
NCBI chr16:17,326,124...17,344,197
Ensembl chr16:17,326,552...17,344,197
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Macir
macrophage immunometabolism regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 1:97,571,627...97,589,743
Ensembl chr 1:97,534,043...97,589,799
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Map1lc3a
microtubule-associated protein 1 light chain 3 alpha
treatment
ISO
RGD
PMID:24905460
RGD:11561946
NCBI chr 2:155,118,284...155,119,993
Ensembl chr 2:155,118,217...155,119,993
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Map2k2
mitogen-activated protein kinase kinase 2
treatment
ISO
RGD
PMID:26189368
RGD:13702862
NCBI chr10:80,941,749...80,960,531
Ensembl chr10:80,941,749...80,969,809
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Map2k3
mitogen-activated protein kinase kinase 3
disease_progression
ISO
protein:increased expression, increased phosphorylation:brain
RGD
PMID:17406030
RGD:1641940
NCBI chr11:60,822,880...60,843,637
Ensembl chr11:60,822,859...60,843,637
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Mdm2
transformed mouse 3T3 cell double minute 2
ISO
DNA:amplication
RGD
PMID:23796897
RGD:13702089
NCBI chr10:117,524,780...117,546,663
Ensembl chr10:117,524,780...117,546,663
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Mdm4
transformed mouse 3T3 cell double minute 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20472715
NCBI chr 1:132,913,843...132,958,325
Ensembl chr 1:132,887,222...132,958,299
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Med12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:26822237
NCBI chr X:100,317,697...100,342,540
Ensembl chr X:100,317,636...100,341,071
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Met
met proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22162573
NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979
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Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
DNA:transition:cds:p.L84F (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20131314 PMID:22162573 PMID:14669534
RGD:2317667
NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995
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Mir21a
microRNA 21a
ameliorates
ISO
RGD
PMID:31730913
RGD:41404645
NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984
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Mir31
microRNA 31
ISO
RNA:decreased expression:brain (human)
RGD
PMID:22089331
RGD:152998941
NCBI chr 4:88,828,794...88,828,899
Ensembl chr 4:88,828,794...88,828,899
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Mmp2
matrix metallopeptidase 2
severity
ISO
protein:increased expression:brain (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16598420 PMID:7616276
RGD:7207145
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Mmp7
matrix metallopeptidase 7
severity
ISO
protein:increased expression:brain (human)
RGD
PMID:7616276
RGD:7207145
NCBI chr 9:7,692,095...7,699,587
Ensembl chr 9:7,692,091...7,699,586
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Mmp9
matrix metallopeptidase 9
severity treatment
ISO
protein:increased expression:brain (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16598420 PMID:7616276 PMID:12439751
RGD:7207145 , RGD:8547973
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Msh2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:25741868
NCBI chr17:87,979,960...88,031,141
Ensembl chr17:87,979,758...88,031,141
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Mtor
mechanistic target of rapamycin kinase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glioblastoma
CTD ClinVar
PMID:20190810 PMID:22729223 PMID:24631838 PMID:25599672 PMID:25741868 PMID:25799227 PMID:26018084 PMID:26619011 PMID:27159400 PMID:27830187 PMID:28492532 PMID:28864461 PMID:28892148 PMID:29281825 PMID:30705370 More...
NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
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Myc
myelocytomatosis oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223
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Mycn
v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:26619011
NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915
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Ncor1
nuclear receptor co-repressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17312396
NCBI chr11:62,207,132...62,348,200
Ensembl chr11:62,207,252...62,349,367
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Ndrg1
N-myc downstream regulated gene 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341671
NCBI chr15:66,801,167...66,841,490
Ensembl chr15:66,801,167...66,841,489
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Ndrg4
N-myc downstream regulated gene 4
ISO
mRNA, protein:decreased expression:brain
RGD
PMID:22489821
RGD:7247726
NCBI chr 8:96,403,602...96,441,584
Ensembl chr 8:96,403,608...96,441,747
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Nf1
neurofibromin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25119042
NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
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Nfkbia
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha
treatment
ISO
human cell line in a mouse model
RGD
PMID:15692608
RGD:127285387
NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432
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Notch1
notch 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675
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Notch2
notch 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 3:97,920,854...98,057,683
Ensembl chr 3:97,920,843...98,057,677
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Notch3
notch 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr17:32,339,794...32,385,869
Ensembl chr17:32,339,794...32,385,826
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Nras
neuroblastoma ras oncogene
ISO
DNA:mutation:cds:c.35G>A, p.G12D(human) ClinVar Annotator: match by term: Glioblastoma DNA:amplication::
ClinVar RGD
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 PMID:15517309 PMID:11351043 More...
RGD:13702875 , RGD:13702876
NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230
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Pdgfb
platelet derived growth factor, B polypeptide
ISO
RGD
PMID:21210235
RGD:6482799
NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178
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Pdgfrb
platelet derived growth factor receptor, beta polypeptide
treatment
ISO
RGD
PMID:24566984
RGD:13702903
NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133
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Pdpn
podoplanin
ISO
RGD
PMID:16979138
RGD:2292241
NCBI chr 4:142,993,979...143,026,134
Ensembl chr 4:142,994,001...143,026,134
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Pecam1
platelet/endothelial cell adhesion molecule 1
IDA
RGD
PMID:21858729
RGD:6771207
NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454
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Pgf
placental growth factor
disease_progression
ISO
RGD
PMID:20458050
RGD:6483585
NCBI chr12:85,213,413...85,224,087
Ensembl chr12:85,213,409...85,224,564
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20581867 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23246288 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:25915946 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27283355 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28941273 PMID:29446767 PMID:29661094 PMID:29758562 PMID:29988677 PMID:30063105 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31568861 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:37712948 More...
NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635
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Pik3cb
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
disease_progression
ISO
RGD
PMID:26956052 PMID:21188471
RGD:11343921 , RGD:13782050
NCBI chr 9:98,920,455...99,022,264
Ensembl chr 9:98,918,707...99,022,674
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
disease_progression
ISO
RGD
PMID:24523440
RGD:13782051
NCBI chr 4:149,733,625...149,787,023
Ensembl chr 4:149,733,625...149,787,028
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:19962457 PMID:25157968 PMID:26619011
NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725
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Pim1
proviral integration site 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23724780
NCBI chr17:29,709,759...29,715,085
Ensembl chr17:29,709,727...29,715,086
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Pml
promyelocytic leukemia
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23440206
NCBI chr 9:58,125,359...58,157,077
Ensembl chr 9:58,125,359...58,157,069
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Pole
polymerase (DNA directed), epsilon
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:25228659 PMID:26619011 PMID:27573199 PMID:28492532 PMID:29352080
NCBI chr 5:110,434,185...110,485,319
Ensembl chr 5:110,434,172...110,485,340
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Polk
polymerase (DNA directed), kappa
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26651356
NCBI chr13:96,617,195...96,679,087
Ensembl chr13:96,617,198...96,679,087
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Pparg
peroxisome proliferator activated receptor gamma
ISO
ClinVar Annotator: match by term: Glioblastoma, somatic
ClinVar
PMID:9467001 PMID:10381354 PMID:10523018 PMID:10690291 PMID:10851250 PMID:14569127 PMID:14616762 PMID:14671186 PMID:28492532 More...
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
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Prkn
parkin RBR E3 ubiquitin protein ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19946270
NCBI chr17:11,059,227...12,282,257
Ensembl chr17:11,059,271...12,282,248
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Prom1
prominin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18679414 PMID:18829568 PMID:19718438
NCBI chr 5:44,150,963...44,260,850
Ensembl chr 5:44,150,962...44,259,374
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar RGD
PMID:1336932 PMID:1945792 PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 PMID:9467011 PMID:9598803 PMID:9915974 PMID:10400993 PMID:10555148 PMID:10866302 PMID:10920277 PMID:10923032 PMID:11051241 PMID:11504908 PMID:11875759 PMID:11948419 PMID:15016963 PMID:15211648 PMID:15254419 PMID:15647370 PMID:16773562 PMID:16952599 PMID:17526800 PMID:17526801 PMID:17873882 PMID:17942903 PMID:18558293 PMID:18725974 PMID:18767981 PMID:19340001 PMID:19351834 PMID:19366826 PMID:19457929 PMID:19458356 PMID:19829307 PMID:19903786 PMID:20018398 PMID:20085938 PMID:20300775 PMID:20301661 PMID:20453058 PMID:20619739 PMID:20881644 PMID:20926450 PMID:21190448 PMID:21194675 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:21956414 PMID:22162582 PMID:22162589 PMID:22266152 PMID:22320991 PMID:22327138 PMID:22479427 PMID:22491738 PMID:22595938 PMID:23335809 PMID:23349303 PMID:23361946 PMID:23399955 PMID:23470840 PMID:23475934 PMID:24292679 PMID:24778394 PMID:25157968 PMID:25288137 PMID:25527629 PMID:25741868 PMID:26467025 PMID:26619011 PMID:26773036 PMID:26798346 PMID:27147599 PMID:27426521 PMID:27477328 PMID:27535533 PMID:28286253 PMID:28475857 PMID:28492532 PMID:28526761 PMID:28677221 PMID:29359449 PMID:29706350 PMID:30311380 PMID:30528446 PMID:30614812 PMID:31159747 PMID:31336731 PMID:32350270 PMID:32442409 PMID:33077954 PMID:35227301 PMID:36988593 PMID:16847462 More...
RGD:2290476
NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
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Ptgs1
prostaglandin-endoperoxide synthase 1
disease_progression
ISO
protein:increased expression:microglia, macrophage,
RGD
PMID:11121536 PMID:10229132
RGD:5688245 , RGD:5688250
NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284
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Ptgs2
prostaglandin-endoperoxide synthase 2
disease_progression
ISO
protein:increased expression:endothelial cell
RGD
PMID:11121536 PMID:10229132
RGD:5688245 , RGD:5688250
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Ptk2
PTK2 protein tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12811834
NCBI chr15:73,076,951...73,297,192
Ensembl chr15:73,076,951...73,295,129
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Ptn
pleiotrophin
ISO
protein:increased expression:brain (human)
RGD
PMID:14692702
RGD:151660507
NCBI chr 6:36,691,863...36,787,114
Ensembl chr 6:36,691,864...36,787,155
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Ptprb
protein tyrosine phosphatase receptor type B
treatment
ISO
human cells in mouse model protein:increased expression:brain (human)
RGD
PMID:16489031 PMID:15831233 PMID:14692702
RGD:151660504 , RGD:151664746 , RGD:151660507
NCBI chr10:116,111,407...116,225,443
Ensembl chr10:116,111,428...116,225,440
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Rb1
RB transcriptional corepressor 1
severity
ISO
DNA:hypermethylation:promoter:
RGD
PMID:11204276
RGD:13782067
NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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Reck
reversion-inducing-cysteine-rich protein with kazal motifs
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20127710
NCBI chr 4:43,875,521...43,944,806
Ensembl chr 4:43,875,530...43,944,806
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Rpl35a
ribosomal protein L35A
ISO
mRNA:increased expression:brain (human)
RGD
PMID:10880769
RGD:11535077
NCBI chr16:32,876,823...32,880,559
Ensembl chr16:32,876,823...32,880,559
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Rpl5
ribosomal protein L5
ISO
DNA:mutations:multiple (human)
RGD
PMID:26892688
RGD:11535147
NCBI chr 5:108,048,388...108,056,871
Ensembl chr 5:108,048,368...108,056,871
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Runx1
runt related transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23582323
NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037
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Runx3
runt related transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16909125
NCBI chr 4:134,847,956...134,905,301
Ensembl chr 4:134,847,963...134,905,301
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Septin14
septin 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23917401
NCBI chr 5:129,760,455...129,782,048
Ensembl chr 5:129,760,455...129,785,576
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Serping1
serine (or cysteine) peptidase inhibitor, clade G, member 1
treatment
ISO
RGD
PMID:28880870
RGD:13525003
NCBI chr 2:84,595,704...84,605,748
Ensembl chr 2:84,595,731...84,605,788
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Slc7a5
solute carrier family 7 (cationic amino acid transporter, y+ system), member 5
disease_progression
ISO
RGD
PMID:16496379
RGD:151361115
NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433
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Slx4
SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)
ISO
ClinVar Annotator: match by term: Glioblastoma multiforme
ClinVar
PMID:25741868
NCBI chr16:3,796,969...3,821,708
Ensembl chr16:3,796,969...3,821,634
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Srrt
serrate RNA effector molecule homolog (Arabidopsis)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30542699
NCBI chr 5:137,293,966...137,306,564
Ensembl chr 5:137,293,973...137,305,928
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Stat3
signal transducer and activator of transcription 3
disease_progression
ISO
mRNA, protein:increased expression:brain (human)
RGD
PMID:31783691
RGD:151667907
NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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Stat5a
signal transducer and activator of transcription 5A
disease_progression treatment
ISO
mRNA, protein:increased expression:brain (human) human cells in mouse model
RGD
PMID:31783691 PMID:31783691
RGD:151667907 , RGD:151667907
NCBI chr11:100,750,177...100,775,995
Ensembl chr11:100,750,177...100,775,995
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Suz12
SUZ12 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25119042
NCBI chr11:79,883,932...79,924,949
Ensembl chr11:79,883,932...79,924,949
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Tes
testin LIM domain protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16909125
NCBI chr 6:17,065,148...17,105,824
Ensembl chr 6:17,065,148...17,105,827
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Tgm2
transglutaminase 2, C polypeptide
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:16170020 PMID:17099729
NCBI chr 2:157,958,325...157,988,312
Ensembl chr 2:157,958,322...157,988,356
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Tmem135
transmembrane protein 135
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 7:88,789,230...89,053,911
Ensembl chr 7:88,788,922...89,053,430
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Tnc
tenascin C
ISO
RGD
PMID:16928692
RGD:4889612
NCBI chr 4:63,878,022...63,965,554
Ensembl chr 4:63,878,022...63,965,252
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Tnfsf10
tumor necrosis factor (ligand) superfamily, member 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21877938
NCBI chr 3:27,371,226...27,393,814
Ensembl chr 3:27,371,177...27,396,576
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Trmt11
tRNA methyltransferase 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr10:30,410,218...30,477,598
Ensembl chr10:30,410,221...30,476,745
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Trp53
transformation related protein 53
IAGP ISO
ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic
MouseDO ClinVar
PMID:253702 PMID:960674 PMID:1349175 PMID:1359493 PMID:1467311 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1679237 PMID:1683921 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:2259385 PMID:2531845 PMID:2554494 PMID:2654466 PMID:2750177 PMID:3784963 PMID:4122735 PMID:6736287 PMID:7565304 PMID:7651740 PMID:7707106 PMID:7732013 PMID:7737263 PMID:7783166 PMID:7791795 PMID:7885831 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242752 PMID:8276238 PMID:8336941 PMID:8401536 PMID:8402598 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8633021 PMID:8718514 PMID:8825920 PMID:8829627 PMID:8869100 PMID:9020384 PMID:9047394 PMID:9049183 PMID:9150393 PMID:9157982 PMID:9218725 PMID:9242456 PMID:9268986 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9446663 PMID:9525742 PMID:9536098 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9607760 PMID:9632751 PMID:9662334 PMID:9667734 PMID:9681828 PMID:9704930 PMID:9825943 PMID:9839505 PMID:9891044 PMID:10064694 PMID:10089074 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10713666 PMID:10761705 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10871862 PMID:10922393 PMID:10949938 PMID:11051239 PMID:11101847 PMID:11139324 PMID:11152481 PMID:11180592 PMID:11370630 PMID:11403041 PMID:11420676 PMID:11429705 PMID:11479205 PMID:11590071 PMID:11593407 PMID:11668501 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12406399 PMID:12506399 PMID:12509279 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12695689 PMID:12700230 PMID:12726864 PMID:12826609 PMID:12885464 PMID:12909720 PMID:12917626 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15958617 PMID:15977174 PMID:15982667 PMID:16199549 PMID:16206219 PMID:16209708 PMID:16258005 PMID:16312222 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16492679 PMID:16494995 PMID:16508005 PMID:16551709 PMID:16633321 PMID:16682957 PMID:16736287 PMID:16778209 PMID:16818505 PMID:16827139 PMID:16861262 PMID:16964264 PMID:16969106 PMID:17015838 PMID:17170001 PMID:17308077 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17535973 PMID:17540308 PMID:17541742 PMID:17567834 PMID:17572079 PMID:17576681 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:17724467 PMID:17875924 PMID:17881637 PMID:18208484 PMID:18307025 PMID:18391940 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18818522 PMID:18937320 PMID:18989156 PMID:19012332 PMID:19101993 PMID:19127115 PMID:19147582 PMID:19171880 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19462533 PMID:19468865 PMID:19521721 PMID:19556618 PMID:19681600 PMID:19711436 PMID:19714490 PMID:19850740 PMID:19881536 PMID:19913028 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20234365 PMID:20364130 PMID:20407015 PMID:20436704 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20589832 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:20878954 PMID:20972454 PMID:21059199 PMID:21113594 PMID:21115975 PMID:21118481 PMID:21159183 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21348412 PMID:21356188 PMID:21445056 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21590121 PMID:21601526 PMID:21619694 PMID:21626334 PMID:21665182 PMID:21672450 PMID:21674059 PMID:21747090 PMID:21761402 PMID:22006311 PMID:22052707 PMID:22110706 PMID:22114072 PMID:22170717 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22484423 PMID:22553421 PMID:22672556 PMID:22698404 PMID:22703879 PMID:22710932 PMID:22713868 PMID:22729912 PMID:22744426 PMID:22768918 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22983585 PMID:23031740 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23265383 PMID:23406775 PMID:23484829 PMID:23538418 PMID:23612969 PMID:23624782 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23887774 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24122735 PMID:24307375 PMID:24381225 PMID:24382691 PMID:24384472 PMID:24487413 PMID:24501221 PMID:24549055 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24810334 PMID:24835218 PMID:24857548 PMID:25059482 PMID:25119136 PMID:25157968 PMID:25186627 PMID:25256166 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25404506 PMID:25433984 PMID:25503501 PMID:25504633 PMID:25516983 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25619955 PMID:25634208 PMID:25669829 PMID:25691460 PMID:25741868 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:25980754 PMID:26014290 PMID:26022348 PMID:26024390 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26271412 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26534844 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26681312 PMID:26718964 PMID:26781615 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27022024 PMID:27077130 PMID:27153395 PMID:27179933 PMID:27189670 PMID:27276561 PMID:27276934 PMID:27374712 PMID:27463065 PMID:27493922 PMID:27501770 PMID:27516001 PMID:27523101 PMID:27533082 PMID:27616075 PMID:27621308 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28160093 PMID:28279309 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28802053 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29025599 PMID:29058119 PMID:29070607 PMID:29076966 PMID:29126202 PMID:29300620 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29581140 PMID:29752822 PMID:29753700 PMID:29958926 PMID:29979965 PMID:30076369 PMID:30099178 PMID:30107858 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30299350 PMID:30306255 PMID:30311369 PMID:30322717 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30546832 PMID:30583724 PMID:30630526 PMID:30675318 PMID:30709381 PMID:30709875 PMID:30720243 PMID:30730202 PMID:30816478 PMID:30840781 PMID:30918304 PMID:31016814 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31168460 PMID:31206626 PMID:31296311 PMID:31494577 PMID:31742824 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32019277 PMID:32126783 PMID:32156018 PMID:32164171 PMID:32179180 PMID:32187361 PMID:32295079 PMID:32318955 PMID:32475984 PMID:32658383 PMID:32817165 PMID:32888145 PMID:32906206 PMID:32980694 PMID:33087929 PMID:33138793 PMID:33163847 PMID:33208383 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33332384 PMID:33372952 PMID:33407742 PMID:33471991 PMID:33633026 PMID:33818021 PMID:33840814 PMID:34026625 PMID:34240179 PMID:34299313 PMID:34308366 PMID:34529667 PMID:34675114 PMID:34709361 PMID:34793666 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35264596 PMID:35820297 PMID:35938033 PMID:35974385 PMID:36219266 PMID:36329109 PMID:36988593 More...
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Trp53bp1
transformation related protein 53 binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 2:121,025,316...121,126,830
Ensembl chr 2:121,023,762...121,101,888
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16356833
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Wt1
WT1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20820871
NCBI chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961
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Xrcc1
X-ray repair complementing defective repair in Chinese hamster cells 1
susceptibility
ISO
DNA:SNP:exon 10: p.R399Q (human)
RGD
PMID:18330515
RGD:401827274
NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865
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Zbtb7a
zinc finger and BTB domain containing 7a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25875864
NCBI chr10:80,971,113...80,988,056
Ensembl chr10:80,971,054...80,988,829
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Rb1
RB transcriptional corepressor 1
ISO
RNA:decreased expression:brain:
RGD
PMID:22157621
RGD:13782062
NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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Ccl2
C-C motif chemokine ligand 2
severity
IMP
mouse gene in a rat model
RGD
PMID:7489565
RGD:11526112
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Cyp2b10
cytochrome P450, family 2, subfamily b, polypeptide 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9766669 PMID:11389073
NCBI chr 7:25,597,083...25,626,049
Ensembl chr 7:25,597,045...25,626,049
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Cyp2c52-ps
cytochrome P450, family 2, subfamily c, polypeptide 52, pseudogene
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9766669
NCBI chr19:38,965,106...38,992,071
Ensembl chr19:38,965,091...38,991,733
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Plau
plasminogen activator, urokinase
severity
IMP
mouse gene in rat model
RGD
PMID:20606645
RGD:7241591
NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
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Por
cytochrome p450 oxidoreductase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9766669
NCBI chr 5:135,698,894...135,764,180
Ensembl chr 5:135,698,887...135,764,180
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
protein:increased expression:microglia, macrophage,
RGD
PMID:10229132
RGD:5688250
NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
protein:increased expression:endothelial cell
RGD
PMID:10229132
RGD:5688250
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16533777
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Runx1
runt related transcription factor 1
ISO
ClinVar Annotator: match by term: Malignant ependymoma
ClinVar
PMID:23753029 PMID:25741868 PMID:26580448 PMID:28492532 PMID:28801348 PMID:29365323 More...
NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037
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4930550C14Rik
RIKEN cDNA 4930550C14 gene
ISO
ClinVar Annotator: match by term: Malignant glioma
ClinVar
PMID:8659541 PMID:8808599 PMID:9000145 PMID:9463314 PMID:10330348 PMID:10817650 PMID:10980530 PMID:11298136 PMID:12552559 PMID:21445571 PMID:21459046 PMID:21792198 PMID:25741868 PMID:26681312 PMID:28492532 PMID:29478780 PMID:30549301 PMID:33471991 More...
NCBI chr 9:53,313,814...53,345,726
Ensembl chr 9:53,313,625...53,345,702
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Abcb1b
ATP-binding cassette, sub-family B member 1B
ISO
RGD
PMID:16574265
RGD:1598564
NCBI chr 5:8,848,147...8,916,314
Ensembl chr 5:8,848,147...8,916,315
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Acvr1
activin A receptor, type 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brainstem glioma
CTD ClinVar
PMID:818090 PMID:7068725 PMID:19085907 PMID:19330033 PMID:22977237 PMID:24705250 PMID:24705251 PMID:24705252 PMID:24705254 PMID:25326637 PMID:25741868 PMID:26619011 PMID:31779674 More...
NCBI chr 2:58,336,450...58,456,840
Ensembl chr 2:58,278,656...58,457,169
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Adgra2
adhesion G protein-coupled receptor A2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 8:27,575,546...27,613,464
Ensembl chr 8:27,575,611...27,613,464
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Akt2
thymoma viral proto-oncogene 2
ISO
protein:increased expression:cytoplasm (human)
RGD
PMID:19330838 PMID:19330838
RGD:2313297 , RGD:2313297
NCBI chr 7:27,290,977...27,340,251
Ensembl chr 7:27,290,977...27,340,251
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Amotl1
angiomotin-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34480788
NCBI chr 9:14,453,262...14,574,408
Ensembl chr 9:14,453,262...14,556,352
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Angpt2
angiopoietin 2
ISO
protein:increased expression:brain (rat)
RGD
PMID:18615861
RGD:2314189
NCBI chr 8:18,740,279...18,791,578
Ensembl chr 8:18,740,279...18,791,578
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Apod
apolipoprotein D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16865689
NCBI chr16:31,115,010...31,133,626
Ensembl chr16:31,115,010...31,133,626
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Araf
Araf proto-oncogene, serine/threonine kinase
disease_progression
ISO
RGD
PMID:27852048
RGD:13702476
NCBI chr X:20,663,946...20,726,760
Ensembl chr X:20,664,053...20,726,758
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Areg
amphiregulin
ISO
RGD
PMID:8621257
RGD:2292668
NCBI chr 5:91,287,458...91,296,291
Ensembl chr 5:91,287,458...91,296,291
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Arhgap32
Rho GTPase activating protein 32
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 9:31,927,921...32,176,061
Ensembl chr 9:32,027,432...32,179,742
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Arid1b
AT-rich interaction domain 1B
ISO
ClinVar Annotator: match by term: Astrocytoma
ClinVar
PMID:25741868
NCBI chr17:5,044,481...5,397,931
Ensembl chr17:5,044,607...5,397,931
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Arl2
ADP-ribosylation factor-like 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,184,419...6,191,167
Ensembl chr19:6,184,404...6,191,578
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Aspm
abnormal spindle microtubule assembly
disease_progression
ISO
mRNA:increased expression:brain:
RGD
PMID:20142996
RGD:13442488
NCBI chr 1:139,381,450...139,421,826
Ensembl chr 1:139,382,510...139,421,829
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Atf5
activating transcription factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28861715
NCBI chr 7:44,461,680...44,466,082
Ensembl chr 7:44,461,680...44,466,082
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Atg2a
autophagy related 2A
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,291,508...6,312,332
Ensembl chr19:6,291,698...6,312,365
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Atg7
autophagy related 7
treatment
ISO
RGD
PMID:25542083
RGD:11557994
NCBI chr 6:114,620,075...114,837,565
Ensembl chr 6:114,620,058...114,837,575
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Atm
ataxia telangiectasia mutated
ISO
ClinVar Annotator: match by term: Malignant glioma
ClinVar
PMID:8659541 PMID:8808599 PMID:9000145 PMID:9463314 PMID:10330348 PMID:10817650 PMID:10980530 PMID:11298136 PMID:12552559 PMID:21445571 PMID:21459046 PMID:21792198 PMID:25741868 PMID:26681312 PMID:28492532 PMID:29478780 PMID:30549301 PMID:33471991 More...
NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
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Atp1b2
ATPase, Na+/K+ transporting, beta 2 polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16865689
NCBI chr11:69,490,554...69,496,786
Ensembl chr11:69,490,562...69,496,768
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Atrx
ATRX, chromatin remodeler
ISO
DNA:mutations: :multiple CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23583981 PMID:24705251 PMID:23104868
RGD:11040587
NCBI chr X:104,841,221...104,972,978
Ensembl chr X:104,841,221...104,973,009
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Bad
BCL2-associated agonist of cell death
ISO
protein:increased phosphorylation:brain (rat) ClinVar Annotator: match by term: Ependymoma
ClinVar RGD
PMID:16944316
RGD:2292675
NCBI chr19:6,919,229...6,929,273
Ensembl chr19:6,919,229...6,929,267
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Banp
BTG3 associated nuclear protein
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 8:122,674,711...122,755,999
Ensembl chr 8:122,676,489...122,755,997
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Bap1
Brca1 associated protein 1
ISO
ClinVar Annotator: match by term: Astrocytoma
ClinVar
PMID:25741868
NCBI chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901
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Barhl1
BarH like homeobox 1
ISO
protein:increased expression:brain:
RGD
PMID:28956815
RGD:14390165
NCBI chr 2:28,797,692...28,807,996
Ensembl chr 2:28,797,691...28,806,680
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Batf2
basic leucine zipper transcription factor, ATF-like 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,214,424...6,222,506
Ensembl chr19:6,191,013...6,222,506
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Bcan
brevican
severity
ISO
protein:increased expression:brain:
RGD
PMID:12799382 PMID:23253190 PMID:16061654 PMID:11585735
RGD:14392782 , RGD:14392804 , RGD:14392797 , RGD:14392783
NCBI chr 3:87,894,839...87,908,458
Ensembl chr 3:87,894,838...87,907,537
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Bdkrb2
bradykinin receptor, beta 2
ISO
mRNA:increased expression:brain
RGD
PMID:20080302
RGD:4891047
NCBI chr12:105,529,431...105,561,503
Ensembl chr12:105,529,485...105,561,496
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Birc5
baculoviral IAP repeat-containing 5
ISO
protein:increased expression:brain
RGD
PMID:17701349
RGD:2293131
NCBI chr11:117,740,063...117,746,569
Ensembl chr11:117,740,077...117,746,569
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Bmi1
Bmi1 polycomb ring finger oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23383216
NCBI chr 2:18,681,953...18,691,440
Ensembl chr 2:18,681,829...18,691,440
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Braf
Braf transforming gene
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brainstem glioma
CTD ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23583981 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627 PMID:34476331 More...
NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397
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Brca2
breast cancer 2, early onset
ISO
ClinVar Annotator: match by term: Glioma susceptibility 3 ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 3 CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:251866 PMID:278235 PMID:2200631 PMID:8589730 PMID:8673090 PMID:9150172 PMID:9150174 PMID:9667259 PMID:9792861 PMID:10644434 PMID:10660329 PMID:10790213 PMID:10978364 PMID:11149425 PMID:11179017 PMID:11307153 PMID:11389159 PMID:11400546 PMID:11597388 PMID:11802209 PMID:11843247 PMID:11857748 PMID:12065746 PMID:12373604 PMID:12655567 PMID:12845657 PMID:12955716 PMID:14559878 PMID:14647210 PMID:14670928 PMID:15024741 PMID:15070707 PMID:15131399 PMID:15168169 PMID:15340362 PMID:15382066 PMID:15689453 PMID:15800311 PMID:16030099 PMID:16168118 PMID:16168123 PMID:16199547 PMID:16284991 PMID:16389418 PMID:16455195 PMID:16683254 PMID:16758124 PMID:16825431 PMID:16905680 PMID:16912212 PMID:16920162 PMID:17063270 PMID:17148771 PMID:17301269 PMID:17513806 PMID:17574839 PMID:17688236 PMID:17925560 PMID:17972171 PMID:18042939 PMID:18393245 PMID:18446624 PMID:18465347 PMID:18489799 PMID:18703817 PMID:18704680 PMID:19016756 PMID:19241424 PMID:19491284 PMID:19620486 PMID:19654294 PMID:19656164 PMID:19863560 PMID:19941162 PMID:19941167 PMID:19949876 PMID:19967274 PMID:20033483 PMID:20104584 PMID:20167696 PMID:20373018 PMID:20616022 PMID:20694749 PMID:20736950 PMID:20858050 PMID:21120943 PMID:21205087 PMID:21324516 PMID:21520273 PMID:21643751 PMID:21702907 PMID:21709188 PMID:21913181 PMID:21918853 PMID:21952622 PMID:22006311 PMID:22009639 PMID:22085629 PMID:22144684 PMID:22217648 PMID:22426013 PMID:22505045 PMID:22535016 PMID:22632462 PMID:22666503 PMID:22752604 PMID:22762150 PMID:22798144 PMID:22923021 PMID:23096105 PMID:23199084 PMID:23233716 PMID:23318356 PMID:23415752 PMID:23469205 PMID:23479189 PMID:23569316 PMID:23613520 PMID:23621881 PMID:23725378 PMID:23767878 PMID:23942203 PMID:24033266 PMID:24055113 PMID:24123850 PMID:24141157 PMID:24156927 PMID:24301060 PMID:24312913 PMID:24504028 PMID:24528374 PMID:24556621 PMID:24607278 PMID:24728189 PMID:24814045 PMID:24830819 PMID:24884479 PMID:24916970 PMID:25066507 PMID:25085752 PMID:25136594 PMID:25186627 PMID:25236687 PMID:25330149 PMID:25348012 PMID:25382762 PMID:25428789 PMID:25452441 PMID:25525159 PMID:25637381 PMID:25682074 PMID:25737278 PMID:25741868 PMID:25802882 PMID:25863477 PMID:25884701 PMID:25927356 PMID:26026974 PMID:26064523 PMID:26187060 PMID:26219728 PMID:26287763 PMID:26295337 PMID:26360800 PMID:26425718 PMID:26439132 PMID:26467025 PMID:26541979 PMID:26580448 PMID:26657402 PMID:26681312 PMID:26687385 PMID:26689913 PMID:26786923 PMID:26834852 PMID:26845104 PMID:27153395 PMID:27165126 PMID:27257965 PMID:27376475 PMID:27425403 PMID:27433846 PMID:27469594 PMID:27553368 PMID:27732944 PMID:27741520 PMID:27767231 PMID:27831900 PMID:27836010 PMID:28008555 PMID:28039656 PMID:28111427 PMID:28176296 PMID:28243543 PMID:28281021 PMID:28294317 PMID:28324225 PMID:28423363 PMID:28477318 PMID:28492532 PMID:28503720 PMID:28541631 PMID:28616458 PMID:28657667 PMID:28715532 PMID:28724667 PMID:28726808 PMID:28831036 PMID:28915716 PMID:28918466 PMID:28973083 PMID:28993434 PMID:29061375 PMID:29084914 PMID:29088781 PMID:29161300 PMID:29176636 PMID:29321669 PMID:29339979 PMID:29348823 PMID:29360161 PMID:29371908 PMID:29433453 PMID:29446198 PMID:29478780 PMID:29483665 PMID:29489754 PMID:29492181 PMID:29506128 PMID:29625052 PMID:29752822 PMID:29753700 PMID:29790872 PMID:29907814 PMID:29909963 PMID:29915322 PMID:30078507 PMID:30093976 PMID:30122538 PMID:30128899 PMID:30199306 PMID:30274973 PMID:30287823 PMID:30309722 PMID:30322717 PMID:30350268 PMID:30548481 PMID:30606148 PMID:30612635 PMID:30630528 PMID:30696104 PMID:30702160 PMID:30720243 PMID:30720863 PMID:30787465 PMID:30875412 PMID:30972954 PMID:31112363 PMID:31131967 PMID:31174498 PMID:31209999 PMID:31214711 PMID:31263054 PMID:31263571 PMID:31331294 PMID:31360904 PMID:31396961 PMID:31411802 PMID:31447099 PMID:31451522 PMID:31589614 PMID:31721781 PMID:31742824 PMID:31825140 PMID:31837001 PMID:31911673 PMID:31948886 PMID:31957001 PMID:31980526 PMID:32029870 PMID:32098980 PMID:32101877 PMID:32164353 PMID:32190957 PMID:32295079 PMID:32300229 PMID:32318955 PMID:32338768 PMID:32341426 PMID:32354836 PMID:32426482 PMID:32438681 PMID:32467295 PMID:32521533 PMID:32581362 PMID:32710294 PMID:32719484 PMID:32720237 PMID:32772980 PMID:32846166 PMID:32853339 PMID:32875559 PMID:32885271 PMID:33008098 PMID:33087929 PMID:33113089 PMID:33309985 PMID:33372952 PMID:33461583 PMID:33471991 PMID:33478551 PMID:33608381 PMID:33773534 PMID:33918338 PMID:34008015 PMID:34196900 PMID:34399810 PMID:34413315 PMID:34567246 PMID:34657373 PMID:35220195 PMID:35264596 PMID:35353237 PMID:35535697 PMID:35753294 PMID:36329109 PMID:36988593 More...
NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794
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Brd7
bromodomain containing 7
ISO
protein:increased expression:brain:
RGD
PMID:24404152
RGD:9586441
NCBI chr 8:89,056,522...89,089,249
Ensembl chr 8:89,057,667...89,088,822
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C3
complement component 3
treatment
IMP
RGD
PMID:21678475
RGD:7401275
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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Cacng2
calcium channel, voltage-dependent, gamma subunit 2
ISO
ClinVar Annotator: match by term: Brainstem glioma
ClinVar
NCBI chr15:77,876,119...78,004,420
Ensembl chr15:77,875,948...78,004,228
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Camk2a
calcium/calmodulin-dependent protein kinase II alpha
disease_progression
ISO
RGD
PMID:29393370
RGD:13702478
NCBI chr18:61,058,704...61,121,224
Ensembl chr18:61,058,690...61,121,224
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Camk2b
calcium/calmodulin-dependent protein kinase II, beta
disease_progression
IEP
RGD
PMID:15750623
RGD:13702479
NCBI chr11:5,919,642...6,016,401
Ensembl chr11:5,919,644...6,016,362
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Camkk2
calcium/calmodulin-dependent protein kinase kinase 2, beta
disease_progression
ISO
RGD
PMID:27012733
RGD:13674178
NCBI chr 5:122,856,064...122,918,295
Ensembl chr 5:122,869,233...122,917,472
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Capn1
calpain 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,038,573...6,065,855
Ensembl chr19:6,038,573...6,065,927
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21138464
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
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Catsperz
cation channel sperm associated auxiliary subunit zeta
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,899,794...6,902,748
Ensembl chr19:6,899,739...6,902,748
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Cav1
caveolin 1, caveolae protein
ISO
RGD
PMID:22528460
RGD:6784517
NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451
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Cav2
caveolin 2
ISO
RGD
PMID:22528460
RGD:6784517
NCBI chr 6:17,281,184...17,289,129
Ensembl chr 6:17,281,184...17,289,114
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Ccdc88b
coiled-coil domain containing 88B
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,821,991...6,835,586
Ensembl chr19:6,821,991...6,835,579
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Ccn1
cellular communication network factor 1
exacerbates
ISO
human cells in mouse model
RGD
PMID:15026334
RGD:329845555
NCBI chr 3:145,352,726...145,355,740
Ensembl chr 3:145,352,731...145,355,736
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Ccnd1
cyclin D1
susceptibility disease_progression
ISO IMP
RGD
PMID:22304571 PMID:21844184 PMID:21844184
RGD:13681930 , RGD:13702091 , RGD:13702091
NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
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Ccr4
C-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17522861
NCBI chr 9:114,319,384...114,334,544
Ensembl chr 9:114,319,384...114,333,984
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Cd40
CD40 antigen
treatment
IMP
RGD
PMID:24878890
RGD:11352275
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cd80
CD80 antigen
ISO
RGD
PMID:10078962
RGD:727266
NCBI chr16:38,277,793...38,316,682
Ensembl chr16:38,275,923...38,316,697
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Cdc42bpg
CDC42 binding protein kinase gamma
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,356,465...6,375,682
Ensembl chr19:6,356,486...6,375,682
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Cdc42ep2
CDC42 effector protein 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:5,967,584...5,974,844
Ensembl chr19:5,965,664...5,974,844
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Cdca5
cell division cycle associated 5
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,135,127...6,141,803
Ensembl chr19:6,135,013...6,141,807
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Cdk4
cyclin dependent kinase 4
disease_progression
ISO IMP
RGD
PMID:23761023 PMID:21844184
RGD:13702090 , RGD:13702091
NCBI chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789
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Cdk6
cyclin dependent kinase 6
severity
ISO
DNA:amplification:
RGD
PMID:22736304 PMID:9102208
RGD:13702093 , RGD:13702094
NCBI chr 5:3,391,004...3,581,008
Ensembl chr 5:3,391,485...3,581,008
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Cdkn1a
cyclin dependent kinase inhibitor 1A
severity treatment
ISO
DNA:hypermethylation:promoter:
RGD
PMID:20844987 PMID:9144534 PMID:18791688
RGD:13702125 , RGD:13702129 , RGD:13702128
NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701
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Cdkn2a
cyclin dependent kinase inhibitor 2A
disease_progression
ISO
DNA:deletions CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15814359 PMID:19578367 PMID:11314047
RGD:8552305
NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
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Cdkn2b
cyclin dependent kinase inhibitor 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19578366 PMID:19578367
NCBI chr 4:89,224,526...89,229,269
Ensembl chr 4:89,224,536...89,229,276
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Chaf1a
chromatin assembly factor 1, subunit A
susceptibility
ISO
DNA:SNP:intron:rs243356(human)
RGD
PMID:18048407
RGD:9587459
NCBI chr17:56,347,404...56,375,027
Ensembl chr17:56,347,439...56,379,289
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Chaf1b
chromatin assembly factor 1, subunit B
disease_progression
ISO
protein:increased expression:brain:
RGD
PMID:24039914
RGD:9587472
NCBI chr16:93,680,801...93,703,003
Ensembl chr16:93,680,789...93,703,003
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Chek2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Astrocytoma
ClinVar
PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 PMID:12094328 PMID:12533788 PMID:12690581 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15087378 PMID:15095295 PMID:15122511 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:16257342 PMID:16492927 PMID:16880452 PMID:17085682 PMID:18172190 PMID:18759107 PMID:19338683 PMID:19768534 PMID:19805189 PMID:21779515 PMID:21807500 PMID:21876083 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23109706 PMID:23329222 PMID:23415889 PMID:23469205 PMID:23652375 PMID:23946381 PMID:24033266 PMID:24713400 PMID:24723567 PMID:24884479 PMID:25431674 PMID:25583358 PMID:25741868 PMID:26084796 PMID:26332814 PMID:26467025 PMID:26641009 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27083775 PMID:27153395 PMID:27223485 PMID:27269948 PMID:27433846 PMID:27711073 PMID:27751358 PMID:27798748 PMID:28125075 PMID:28135145 PMID:28195393 PMID:28492532 PMID:28503720 PMID:28514723 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28874143 PMID:29146883 PMID:29351919 PMID:29489754 PMID:29522266 PMID:29909568 PMID:31300551 PMID:31993860 PMID:32119081 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112 PMID:32805687 PMID:36222830 PMID:37055167 PMID:37149759 More...
NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011
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Chi3l1
chitinase 3 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20506295
NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919
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Clcn2
chloride channel, voltage-sensitive 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12843258
NCBI chr16:20,521,185...20,536,496
Ensembl chr16:20,521,714...20,536,496
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Clcn3
chloride channel, voltage-sensitive 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12843258
NCBI chr 8:61,363,423...61,436,351
Ensembl chr 8:61,363,423...61,436,334
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Clcn5
chloride channel, voltage-sensitive 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12843258
NCBI chr X:7,020,049...7,185,597
Ensembl chr X:7,020,049...7,185,597
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Cntn2
contactin 2
severity
ISO
RGD
PMID:11280781
RGD:734799
NCBI chr 1:132,437,163...132,470,989
Ensembl chr 1:132,437,165...132,470,994
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Cox8a
cytochrome c oxidase subunit 8A
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:7,192,523...7,194,981
Ensembl chr19:7,192,518...7,194,981
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Cplane1
ciliogenesis and planar polarity effector 1
ISO
ClinVar Annotator: match by term: Astrocytoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:8,198,509...8,300,642
Ensembl chr15:8,198,590...8,300,642
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Csf1
colony stimulating factor 1 (macrophage)
ISO
RGD
PMID:15728459
RGD:2293641
NCBI chr 3:107,648,364...107,668,048
Ensembl chr 3:107,648,364...107,667,785
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Ctsb
cathepsin B
ISO
RGD
PMID:17287256
RGD:2315520
NCBI chr14:63,359,911...63,383,372
Ensembl chr14:63,359,911...63,383,372
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:16434036
RGD:5135509
NCBI chr X:100,775,141...100,777,753
Ensembl chr X:100,775,141...100,777,875
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
DNA:snp:promoter:c.-1053C>T (human)
RGD
PMID:12540498
RGD:1358568
NCBI chr 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900
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Dcn
decorin
disease_progression
ISO
RGD
PMID:15475879
RGD:2311425
NCBI chr10:97,315,362...97,354,025
Ensembl chr10:97,315,471...97,354,005
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Dcx
doublecortin
disease_progression treatment
IMP ISO
RGD
PMID:17178868 PMID:21477071 PMID:19681167
RGD:12904748 , RGD:12904761 , RGD:12904754
NCBI chr X:142,638,838...142,716,392
Ensembl chr X:142,638,838...142,716,307
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Ddr1
discoidin domain receptor family, member 1
severity
ISO
mRNA, protein:increased expression:brain (human)
RGD
PMID:16652150
RGD:151347531
NCBI chr17:35,992,459...36,015,633
Ensembl chr17:35,992,459...36,015,513
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Depdc5
DEP domain containing 5
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 5:33,020,996...33,151,581
Ensembl chr 5:33,021,045...33,151,580
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Dlk1
delta like non-canonical Notch ligand 1
ISO
RGD
PMID:16288219
RGD:1625600
NCBI chr12:109,418,411...109,429,262
Ensembl chr12:109,418,749...109,429,262
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Dll4
delta like canonical Notch ligand 4
ameliorates
IMP
RGD
PMID:17183313
RGD:155791441
NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443
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Dmxl1
Dmx-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16865689
NCBI chr18:49,965,657...50,098,540
Ensembl chr18:49,965,737...50,098,540
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Dnajc4
DnaJ heat shock protein family (Hsp40) member C4
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,965,279...6,969,954
Ensembl chr19:6,965,279...6,969,940
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Dpf2
double PHD fingers 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:5,946,544...5,962,899
Ensembl chr19:5,946,544...5,963,038
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E2f1
E2F transcription factor 1
severity
ISO
RGD
PMID:28042322
RGD:13702468
NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812
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E2f3
E2F transcription factor 3
disease_progression
ISO
RGD
PMID:28337965
RGD:13702470
NCBI chr13:30,090,558...30,171,172
Ensembl chr13:30,090,558...30,170,046
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Efemp1
epidermal growth factor-containing fibulin-like extracellular matrix protein 1
ISO
protein:increased expression:brain:
RGD
PMID:19887559
RGD:10401656
NCBI chr11:28,803,154...28,876,743
Ensembl chr11:28,803,204...28,876,743
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Efl1
elongation factor like GTPase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25015090
NCBI chr 7:82,297,811...82,427,060
Ensembl chr 7:82,297,822...82,427,060
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Egf
epidermal growth factor
susceptibility
ISO
DNA:polymorphism:promoter:+61A>G(human) DNA:polymorphism:promoter:GG genotypes were associated with increased risk.
RGD
PMID:22106858 PMID:17473192
RGD:13702473 , RGD:13702474
NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
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Egfr
epidermal growth factor receptor
treatment
ISO
protein:alternative form:tumor (human) ClinVar Annotator: match by term: Brainstem glioma
ClinVar RGD
PMID:17177598 PMID:26619011 PMID:7606735 PMID:10616092
RGD:5131512 , RGD:38599219
NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158
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Ehbp1l1
EH domain binding protein 1-like 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:5,757,397...5,776,504
Ensembl chr19:5,757,404...5,776,345
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Ehd1
EH-domain containing 1
ISO
ClinVar Annotator: match by term: Ependymoma CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:35616188
NCBI chr19:6,326,926...6,350,126
Ensembl chr19:6,326,755...6,350,126
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Entpd2
ectonucleoside triphosphate diphosphohydrolase 2
ISO
RGD
PMID:19558578
RGD:9685528
NCBI chr 2:25,285,886...25,291,335
Ensembl chr 2:25,285,886...25,291,333
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Epha5
Eph receptor A5
ISO
ClinVar Annotator: match by term: Astrocytoma
ClinVar
PMID:25741868
NCBI chr 5:84,199,024...84,565,677
Ensembl chr 5:84,202,620...84,565,241
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Epo
erythropoietin
ISO
RGD
PMID:21749867
RGD:10400910
NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504
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Epor
erythropoietin receptor
ISO
RGD
PMID:21749867
RGD:10400910
NCBI chr 9:21,870,193...21,874,915
Ensembl chr 9:21,870,193...21,874,802
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Glioma susceptibility 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:15457249
NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542
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Ercc1
excision repair cross-complementing rodent repair deficiency, complementation group 1
susceptibility
ISO
DNA:snp:3'utr:c.8092C>A (human) (rs3212986)
RGD
PMID:25867436
RGD:13207318
NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449
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Ercc2
excision repair cross-complementing rodent repair deficiency, complementation group 2
susceptibility
ISO
RGD
PMID:11319176
RGD:10401082
NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619
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Ercc5
excision repair cross-complementing rodent repair deficiency, complementation group 5
susceptibility
ISO
DNA:SNP:cd: p.D1558H (rs17655) (human)
RGD
PMID:23534771
RGD:401850601
NCBI chr 1:44,184,084...44,220,399
Ensembl chr 1:44,186,904...44,220,420
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Esrra
estrogen related receptor, alpha
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,888,345...6,899,182
Ensembl chr19:6,888,345...6,899,208
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F2
coagulation factor II
treatment
ISO
RGD
PMID:15975137
RGD:1578509
NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
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Fam107a
family with sequence similarity 107, member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16865689
NCBI chr14:14,152,166...14,173,503
Ensembl chr14:14,151,750...14,173,499
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Fam89b
family with sequence similarity 89, member B
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:5,778,115...5,779,694
Ensembl chr19:5,778,115...5,779,681
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Fas
Fas cell surface death receptor
severity
IMP
mouse gene in a rat model
RGD
PMID:11440439
RGD:8663460
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Fau
FAU ubiquitin like and ribosomal protein S30 fusion
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,107,977...6,109,554
Ensembl chr19:6,107,874...6,109,554
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Fbxw7
F-box and WD-40 domain protein 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18931460
NCBI chr 3:84,721,901...84,886,505
Ensembl chr 3:84,722,575...84,886,505
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Fermt3
fermitin family member 3
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,976,326...6,996,837
Ensembl chr19:6,976,326...6,996,837
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Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:10673511
NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
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Fgfr1
fibroblast growth factor receptor 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma
CTD ClinVar
PMID:10766980 PMID:23583981 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 PMID:33448156 More...
NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
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Fkbp2
FK506 binding protein 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,955,105...6,957,832
Ensembl chr19:6,955,109...6,957,869
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Flrt1
fibronectin leucine rich transmembrane protein 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:7,064,829...7,143,548
Ensembl chr19:7,069,366...7,083,094
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Flt3l
FMS-like tyrosine kinase 3 ligand
treatment
ISO
RGD
PMID:15564139
RGD:11049500
NCBI chr 7:44,780,607...44,785,914
Ensembl chr 7:44,779,212...44,785,856
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Frmd8
FERM domain containing 8
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:5,901,002...5,925,297
Ensembl chr19:5,899,730...5,925,302
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Fth1
ferritin heavy polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21385903
NCBI chr19:9,957,964...9,962,475
Ensembl chr19:9,957,962...9,962,462
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Gdnf
glial cell line derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19138852
NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056
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Gja1
gap junction protein, alpha 1
ISO
RGD
PMID:22808518
RGD:7207264
NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609
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Glb1
galactosidase, beta 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 9:114,230,146...114,303,447
Ensembl chr 9:114,230,144...114,303,966
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Gon4l
gon-4 like
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 3:88,742,531...88,817,406
Ensembl chr 3:88,742,535...88,817,410
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Gpha2
glycoprotein hormone alpha 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,276,431...6,277,798
Ensembl chr19:6,276,410...6,277,798
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Gpr137
G protein-coupled receptor 137
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,915,425...6,919,818
Ensembl chr19:6,915,425...6,919,848
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Gstm1
glutathione S-transferase, mu 1
severity
ISO
RGD
PMID:10965818
RGD:5490163
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
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Gstm3
glutathione S-transferase, mu 3
ISO
DNA: deletion: intron 6
RGD
PMID:16598069
RGD:5688743
NCBI chr 3:107,871,019...107,876,484
Ensembl chr 3:107,871,012...107,876,599
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Gstm5
glutathione S-transferase, mu 5
ISO
DNA: deletion: intron 6
RGD
PMID:16598069
RGD:5688743
NCBI chr 3:107,803,240...107,806,002
Ensembl chr 3:107,803,137...107,806,002
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Gstp1
glutathione S-transferase, pi 1
susceptibility
ISO
DNA:polymorphism:exon:p.I105V (rs1695) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16899598 PMID:15006924
RGD:5490124
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
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H2-M2
histocompatibility 2, M region locus 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14511464
NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
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H2-Q1
histocompatibility 2, Q region locus 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14511464
NCBI chr17:35,539,503...35,547,118
Ensembl chr17:35,539,381...35,544,075
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H3f3a
H3.3 histone A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brainstem glioma
CTD ClinVar
PMID:22286216 PMID:23583981 PMID:26619011
NCBI chr 1:180,630,125...180,641,127
Ensembl chr 1:180,628,397...180,641,508
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Hdac3
histone deacetylase 3
disease_progression
ISO
mRNA,protein:increased expression:brain: ClinVar Annotator: match by term: Ependymoma
ClinVar RGD
PMID:23685192
RGD:9590201
NCBI chr18:38,070,024...38,088,073
Ensembl chr18:38,068,897...38,088,069
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Hells
helicase, lymphoid specific
severity
ISO
RGD
PMID:28042322
RGD:13702468
NCBI chr19:38,913,282...38,958,914
Ensembl chr19:38,919,359...38,959,495
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Hgf
hepatocyte growth factor
disease_progression
ISO
protein:increased expression:brain:
RGD
PMID:12115353
RGD:8548633
NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150
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Hmgb1
high mobility group box 1
treatment
ISO
RGD
PMID:10830965
RGD:10402059
NCBI chr 5:148,983,512...148,989,867
Ensembl chr 5:148,983,512...149,121,299
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Hmgn5
high-mobility group nucleosome binding domain 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22109888
NCBI chr X:108,048,143...108,056,986
Ensembl chr X:108,048,140...108,057,010
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Hoxd11
homeobox D11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33614284
NCBI chr 2:74,509,902...74,517,360
Ensembl chr 2:74,509,901...74,517,360
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Hras
Harvey rat sarcoma virus oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30619488
NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918
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Hspa5
heat shock protein 5
ISO
protein:increased expression
RGD
PMID:21112319
RGD:5685704
NCBI chr 2:34,662,102...34,666,541
Ensembl chr 2:34,661,982...34,667,559
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Idh1
isocitrate dehydrogenase 1 (NADP+), soluble
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1
CTD ClinVar OMIM
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:19901110 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25391653 PMID:25741868 PMID:25848751 PMID:26618343 PMID:26619011 PMID:27993330 PMID:28122345 PMID:30231226 PMID:36201590 More...
NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659
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Idh2
isocitrate dehydrogenase 2 (NADP+), mitochondrial
ISO
ClinVar Annotator: match by term: Brainstem glioma
ClinVar
PMID:20946881 PMID:21250968 PMID:21596855 PMID:21997850 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22616558 PMID:22898539 PMID:23949315 PMID:24606448 PMID:25157968 PMID:26619011 More...
NCBI chr 7:79,744,594...79,768,356
Ensembl chr 7:79,744,594...79,765,140
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Ifng
interferon gamma
ISO
RGD
PMID:10078962
RGD:727266
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Igf1
insulin-like growth factor 1
severity
ISO
protein:increased expression:serum:
RGD
PMID:21788435
RGD:8548833
NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
G
Igf1r
insulin-like growth factor I receptor
ISO
DNA: SNP: : rs2272037 or rs2016347
RGD
PMID:18562769
RGD:5686434
NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416
G
Igfbp3
insulin-like growth factor binding protein 3
severity
ISO
protein:increased expression:serum:
RGD
PMID:21788435
RGD:8548833
NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923
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Il10
interleukin 10
susceptibility
ISO
DNA:SNP: :rs1800896 (human)
RGD
PMID:20406895
RGD:4140470
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il12a
interleukin 12a
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18176109
NCBI chr 3:68,597,977...68,605,881
Ensembl chr 3:68,597,977...68,605,880
G
Il12b
interleukin 12b
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18176109
NCBI chr11:44,290,890...44,305,504
Ensembl chr11:44,290,890...44,304,860
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Il18
interleukin 18
treatment
IMP
RGD
PMID:18725309
RGD:8657054
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
G
Il2
interleukin 2
treatment
ISO
RGD
PMID:12864971
RGD:8663439
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
G
Il4
interleukin 4
treatment
IMP
RGD
PMID:9973213
RGD:8142389
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
G
Il7
interleukin 7
ISO
RGD
PMID:10078962
RGD:727266
NCBI chr 3:7,637,088...7,678,820
Ensembl chr 3:7,635,054...7,678,820
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Isg15
ISG15 ubiquitin-like modifier
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35506701
NCBI chr 4:156,283,881...156,285,275
Ensembl chr 4:156,283,912...156,285,253
G
Kat6b
K(lysine) acetyltransferase 6B
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr14:21,549,284...21,722,546
Ensembl chr14:21,531,502...21,722,546
G
Kcnk4
potassium channel, subfamily K, member 4
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,903,030...6,912,261
Ensembl chr19:6,901,334...6,911,883
G
Kcnk7
potassium channel, subfamily K, member 7
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:5,754,471...5,757,956
Ensembl chr19:5,754,395...5,757,137
G
Kdm5b
lysine demethylase 5B
disease_progression
ISO
RGD
PMID:25450384 PMID:25450384
RGD:13702126 , RGD:13702126
NCBI chr 1:134,487,916...134,560,621
Ensembl chr 1:134,487,909...134,563,023
G
Kdr
kinase insert domain protein receptor
disease_progression severity
IMP ISO
RGD
PMID:20501615 PMID:10506722
RGD:5684393 , RGD:5684425
NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
G
Klhl21
kelch-like 21
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 4:152,093,348...152,102,134
Ensembl chr 4:152,093,260...152,102,137
G
Kmt2d
lysine (K)-specific methyltransferase 2D
ISO
ClinVar Annotator: match by term: Astrocytoma
ClinVar
PMID:25741868
NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085
G
Kras
Kirsten rat sarcoma viral oncogene homolog
severity
ISO IMP
RGD
PMID:22207524 PMID:19435821
RGD:13702477 , RGD:13702860
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
G
Kremen2
kringle containing transmembrane protein 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr17:23,960,173...23,965,305
Ensembl chr17:23,960,171...23,964,807
G
Lats1
large tumor suppressor
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr10:7,556,964...7,592,225
Ensembl chr10:7,556,978...7,592,224
G
Letm1
leucine zipper-EF-hand containing transmembrane protein 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 5:33,897,017...33,940,061
Ensembl chr 5:33,897,017...33,940,161
G
Lgals3
lectin, galactose binding, soluble 3
disease_progression
ISO
RGD
PMID:23179497
RGD:9685225
NCBI chr14:47,611,317...47,623,624
Ensembl chr14:47,605,208...47,623,617
G
Lig4
ligase IV, DNA, ATP-dependent
ISO
DNA:SNP: :rs1805388 (human)
RGD
PMID:23663450
RGD:13204718
NCBI chr 8:10,020,020...10,027,680
Ensembl chr 8:10,019,049...10,027,686
G
Lta
lymphotoxin A
treatment
ISO
RGD
PMID:1883913
RGD:1625042
NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
G
Ltbp3
latent transforming growth factor beta binding protein 3
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560
G
Macrod1
mono-ADP ribosylhydrolase 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:7,034,065...7,175,427
Ensembl chr19:7,034,178...7,175,422
G
Majin
membrane anchored junction protein
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,234,358...6,274,349
Ensembl chr19:6,234,418...6,274,255
G
Malat1
metastasis associated lung adenocarcinoma transcript 1 (non-coding RNA)
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:5,845,718...5,852,700
Ensembl chr19:5,845,717...5,852,706
G
Map2k1
mitogen-activated protein kinase kinase 1
ISO
RGD
PMID:21057530
RGD:13702863
NCBI chr 9:64,093,066...64,160,887
Ensembl chr 9:64,093,052...64,160,913
G
Map3k11
mitogen-activated protein kinase kinase kinase 11
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:5,738,764...5,752,893
Ensembl chr19:5,738,770...5,752,893
G
Map4k2
mitogen-activated protein kinase kinase kinase kinase 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,391,023...6,405,649
Ensembl chr19:6,391,165...6,405,645
G
Map4k3
mitogen-activated protein kinase kinase kinase kinase 3
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr17:80,887,942...81,039,118
Ensembl chr17:80,887,941...81,035,914
G
Mapk3
mitogen-activated protein kinase 3
IMP
RGD
PMID:27256374
RGD:13702865
NCBI chr 7:126,358,798...126,364,988
Ensembl chr 7:126,358,773...126,364,991
G
Mark2
MAP/microtubule affinity regulating kinase 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:7,252,761...7,319,222
Ensembl chr19:7,252,761...7,319,225
G
Mdk
midkine
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21233844
NCBI chr 2:91,760,149...91,762,348
Ensembl chr 2:91,760,150...91,762,642
G
Men1
multiple endocrine neoplasia 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921
G
Met
met proto-oncogene
ISO
protein:increased expression:brain, glioma (rat)
RGD
PMID:18194445
RGD:2317467
NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979
G
Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033832 PMID:16899598 PMID:19901110
NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995
G
Mir192
microRNA 192
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,314,874...6,314,962
Ensembl chr19:6,314,874...6,314,962
G
Mir194-2
microRNA 194-2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,314,673...6,314,758
Ensembl chr19:6,314,673...6,314,758
G
Mir215
microRNA 215
disease_progression
ISO
RGD
PMID:28573541
RGD:13782061
NCBI chr 1:185,045,778...185,045,889
Ensembl chr 1:185,045,778...185,045,889
G
Mki67
antigen identified by monoclonal antibody Ki 67
ISO
RGD
PMID:22262719
RGD:6483547
NCBI chr 7:135,291,513...135,318,286
Ensembl chr 7:135,291,513...135,318,090
G
Mmp2
matrix metallopeptidase 2
treatment
ISO
RGD
PMID:19292920
RGD:8657080
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
G
Mrpl49
mitochondrial ribosomal protein L49
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,103,660...6,107,785
Ensembl chr19:6,103,652...6,107,815
G
Msh2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
PMID:11726306 PMID:15849733 PMID:17101317 PMID:25741868 PMID:28492532 PMID:28785832 PMID:33357406 PMID:34359559 More...
NCBI chr17:87,979,960...88,031,141
Ensembl chr17:87,979,758...88,031,141
G
mt-Nd4
NADH dehydrogenase 4, mitochondrial
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr MT:10,167...11,544
Ensembl chr MT:10,167...11,544
G
Mtor
mechanistic target of rapamycin kinase
severity
ISO
RGD
PMID:20878445
RGD:13702868
NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
G
Myb
myeloblastosis oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23583981 PMID:26829751
NCBI chr10:21,000,829...21,036,883
Ensembl chr10:21,000,834...21,036,883
G
Mybl1
myeloblastosis oncogene-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23583981
NCBI chr 1:9,737,632...9,770,664
Ensembl chr 1:9,737,640...9,770,434
G
Mylk
myosin, light polypeptide kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10232591
NCBI chr16:34,565,569...34,822,806
Ensembl chr16:34,565,580...34,822,790
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Naa40
N(alpha)-acetyltransferase 40, NatD catalytic subunit
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:7,203,033...7,218,587
Ensembl chr19:7,203,033...7,218,548
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Naaladl1
N-acetylated alpha-linked acidic dipeptidase-like 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,155,811...6,166,019
Ensembl chr19:6,155,812...6,165,822
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Nadsyn1
NAD synthetase 1
susceptibility
ISO
RGD
PMID:22740028
RGD:13703114
NCBI chr 7:143,349,326...143,376,598
Ensembl chr 7:143,349,321...143,376,586
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Ndrg4
N-myc downstream regulated gene 4
disease_progression
ISO
protein:decreased expression:brain
RGD
PMID:22399192
RGD:7247727
NCBI chr 8:96,403,602...96,441,584
Ensembl chr 8:96,403,608...96,441,747
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Neat1
nuclear paraspeckle assembly transcript 1 (non-protein coding)
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:5,874,736...5,895,508
Ensembl chr19:5,874,736...5,895,898
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Net1
neuroepithelial cell transforming gene 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr13:3,932,018...3,968,220
Ensembl chr13:3,932,018...3,968,220
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Nf1
neurofibromin 1
disease_progression
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations: :
CTD RGD
PMID:25119042 PMID:26190195
RGD:12789702
NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
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Nf2
neurofibromin 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr11:4,715,845...4,799,544
Ensembl chr11:4,715,845...4,799,536
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Nos3
nitric oxide synthase 3, endothelial cell
ISO
protein:increased expression:blood vessel endothelial cell
RGD
PMID:14672505
RGD:2292080
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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Nrxn2
neurexin II
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,468,786...6,583,247
Ensembl chr19:6,468,761...6,594,199
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Ntrk1
neurotrophic tyrosine kinase, receptor, type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24705251
NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469
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Ntrk2
neurotrophic tyrosine kinase, receptor, type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24705251
NCBI chr13:58,954,363...59,281,782
Ensembl chr13:58,954,383...59,281,784
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Ntrk3
neurotrophic tyrosine kinase, receptor, type 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24705251
NCBI chr 7:77,825,711...78,228,865
Ensembl chr 7:77,825,707...78,387,760
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Nudt22
nudix hydrolase 22
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,970,387...6,973,471
Ensembl chr19:6,970,386...6,973,485
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Otub1
OTU domain, ubiquitin aldehyde binding 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:7,175,571...7,183,649
Ensembl chr19:7,175,567...7,183,681
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Otud5
OTU domain containing 5
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr X:7,705,852...7,742,861
Ensembl chr X:7,707,603...7,742,865
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Patz1
POZ (BTB) and AT hook containing zinc finger 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr11:3,239,131...3,259,083
Ensembl chr11:3,238,874...3,259,083
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Pcmt1
protein-L-isoaspartate (D-aspartate) O-methyltransferase 1
ISO
mRNA:decreased expression:brain:
RGD
PMID:15857672
RGD:10448283
NCBI chr10:7,503,608...7,556,922
Ensembl chr10:7,505,137...7,556,900
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Pcnx3
pecanex homolog 3
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:5,714,663...5,739,036
Ensembl chr19:5,714,663...5,738,936
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Pdap1
PDGFA associated protein 1
severity
ISO
RGD
PMID:27448842
RGD:13702895
NCBI chr 5:145,065,580...145,076,835
Ensembl chr 5:145,065,579...145,077,048
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Pdgfa
platelet derived growth factor, alpha
ISO
in a mouse model
RGD
PMID:21490965
RGD:13702894
NCBI chr 5:138,961,761...138,986,336
Ensembl chr 5:138,961,769...138,983,125
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Pdgfb
platelet derived growth factor, B polypeptide
severity
ISO
RGD
PMID:27448842 PMID:21677873 PMID:26945107
RGD:13702895 , RGD:13702897 , RGD:13702896
NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178
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Phldb1
pleckstrin homology like domain, family B, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19578367
NCBI chr 9:44,597,605...44,649,800
Ensembl chr 9:44,597,601...44,646,495
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Brainstem glioma
ClinVar RGD
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24497998 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26266975 PMID:26266985 PMID:26351730 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28941273 PMID:29446767 PMID:29549527 PMID:29661094 PMID:29988677 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:37712948 PMID:16847462 More...
RGD:2290476
NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635
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Pik3r3
phosphoinositide-3-kinase regulatory subunit 3
treatment
ISO
RGD
PMID:28260020
RGD:13782053
NCBI chr 4:116,078,593...116,160,253
Ensembl chr 4:116,078,815...116,160,253 Ensembl chr 4:116,078,815...116,160,253
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Plau
plasminogen activator, urokinase
severity
ISO
protein:increased expression:brain (human)
RGD
PMID:7604873
RGD:7241260
NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
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Plcb3
phospholipase C, beta 3
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,931,081...6,951,738
Ensembl chr19:6,929,693...6,953,838
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Plk1
polo like kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22000864
NCBI chr 7:121,758,658...121,769,107
Ensembl chr 7:121,758,662...121,769,096
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Pola2
polymerase (DNA directed), alpha 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:5,990,574...6,014,266
Ensembl chr19:5,990,570...6,014,230
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Pot1a
protection of telomeres 1A
ISO
ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9
ClinVar
PMID:25741868 PMID:28492532 PMID:32191290
NCBI chr 6:25,743,939...25,809,280
Ensembl chr 6:25,743,736...25,809,245
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Pou3f4
POU domain, class 3, transcription factor 4
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr X:109,857,985...109,862,714
Ensembl chr X:109,857,886...109,860,813
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Pou5f1
POU domain, class 5, transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35506701
NCBI chr17:35,816,929...35,821,674
Ensembl chr17:35,816,915...35,821,669
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Pparg
peroxisome proliferator activated receptor gamma
ISO
ClinVar Annotator: match by term: Glioma susceptibility 1
ClinVar
PMID:9467001 PMID:10381354 PMID:10523018 PMID:10690291 PMID:10851250 PMID:14569127 PMID:14616762 PMID:14671186 PMID:28492532 More...
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
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Ppm1d
protein phosphatase 1D magnesium-dependent, delta isoform
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24880341
NCBI chr11:85,202,080...85,237,897
Ensembl chr11:85,202,070...85,237,892
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Ppp1r14b
protein phosphatase 1, regulatory inhibitor subunit 14B
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,952,416...6,954,692
Ensembl chr19:6,952,336...6,954,692
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Ppp2r5b
protein phosphatase 2, regulatory subunit B', beta
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,277,795...6,286,294
Ensembl chr19:6,277,795...6,285,902
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Prdx5
peroxiredoxin 5
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,884,065...6,887,474
Ensembl chr19:6,884,065...6,887,474
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Prkca
protein kinase C, alpha
ISO
DNA:gene fusion: :
RGD
PMID:26671581
RGD:11087038
NCBI chr11:107,824,213...108,237,360
Ensembl chr11:107,824,213...108,234,754
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Psd3
pleckstrin and Sec7 domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16865689
NCBI chr 8:68,141,728...68,664,740
Ensembl chr 8:68,141,734...68,664,679
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 2 DNA:deletions, missense mutations, nonsense mutation:exons:multiple (human)
CTD ClinVar OMIM RGD
PMID:1336932 PMID:7728760 PMID:8980400 PMID:9140396 PMID:9241266 PMID:9256433 PMID:9259288 PMID:9326929 PMID:9399897 PMID:9467011 PMID:9536098 PMID:9598803 PMID:9600246 PMID:9735393 PMID:9740666 PMID:9856571 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10555148 PMID:10749983 PMID:10777358 PMID:10848731 PMID:10866302 PMID:10920277 PMID:10923032 PMID:11051241 PMID:11156408 PMID:11234884 PMID:11274365 PMID:11332402 PMID:11494117 PMID:11504908 PMID:11685670 PMID:11918710 PMID:12085208 PMID:12471211 PMID:12614768 PMID:12844284 PMID:14518070 PMID:14675182 PMID:15016963 PMID:15120218 PMID:15211648 PMID:15254419 PMID:15647370 PMID:15805158 PMID:16199547 PMID:16752378 PMID:16773562 PMID:16952599 PMID:17286265 PMID:17324556 PMID:17392703 PMID:17526800 PMID:17526801 PMID:17576681 PMID:17847000 PMID:17873882 PMID:17941496 PMID:17942903 PMID:18558293 PMID:18725974 PMID:18759867 PMID:18767981 PMID:19340001 PMID:19351834 PMID:19366826 PMID:19457929 PMID:19458356 PMID:19829307 PMID:19903786 PMID:20018398 PMID:20085938 PMID:20223021 PMID:20301661 PMID:20453058 PMID:20538496 PMID:20600018 PMID:20619739 PMID:20685300 PMID:20881644 PMID:20926450 PMID:21194675 PMID:21343951 PMID:21659347 PMID:21828076 PMID:21869887 PMID:21956414 PMID:22162582 PMID:22162589 PMID:22266152 PMID:22281088 PMID:22381246 PMID:22479427 PMID:22491738 PMID:22520842 PMID:22595938 PMID:22628360 PMID:23315997 PMID:23335809 PMID:23349303 PMID:23399955 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:23764071 PMID:23886400 PMID:23934601 PMID:24033266 PMID:24052722 PMID:24055113 PMID:24099866 PMID:24345843 PMID:24375884 PMID:24404930 PMID:24498881 PMID:24766807 PMID:24778394 PMID:24809327 PMID:25157968 PMID:25288137 PMID:25326635 PMID:25429968 PMID:25527629 PMID:25549896 PMID:25647146 PMID:25669429 PMID:25722288 PMID:25741868 PMID:25756585 PMID:25910213 PMID:25937288 PMID:25980754 PMID:26076150 PMID:26246517 PMID:26376867 PMID:26467025 PMID:26579216 PMID:26633542 PMID:26773036 PMID:27221918 PMID:27405757 PMID:27426521 PMID:27477328 PMID:27514801 PMID:27531073 PMID:27535533 PMID:27829222 PMID:27959697 PMID:28250423 PMID:28286253 PMID:28289760 PMID:28475857 PMID:28492532 PMID:28526761 PMID:28655553 PMID:28677221 PMID:28755079 PMID:29273943 PMID:29373119 PMID:29594054 PMID:29608813 PMID:29663862 PMID:29706350 PMID:29706633 PMID:29706646 PMID:29785012 PMID:29874181 PMID:29931205 PMID:29970488 PMID:30181857 PMID:30287823 PMID:30311380 PMID:30374176 PMID:30528446 PMID:30614812 PMID:30659124 PMID:30993208 PMID:31006514 PMID:31336731 PMID:32150788 PMID:32234455 PMID:32238909 PMID:32350270 PMID:32664367 PMID:32832836 PMID:32885271 PMID:33077954 PMID:33083010 PMID:33088792 PMID:33372952 PMID:33471991 PMID:33600059 PMID:33723755 PMID:34386506 PMID:35089076 PMID:35227301 PMID:36988593 PMID:9090379 More...
RGD:12801495
NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15561105
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Astrocytoma
ClinVar
PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15834506 PMID:15842656 PMID:15928039 PMID:16358218 PMID:16518851 PMID:16830086 PMID:17177198 PMID:17942397 PMID:17972951 PMID:18470943 PMID:18559669 PMID:18678287 PMID:19047918 PMID:19179468 PMID:19509418 PMID:19798502 PMID:21901340 PMID:21930766 PMID:22190897 PMID:23756559 PMID:23825065 PMID:23832011 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26783207 PMID:27069254 PMID:27276561 PMID:27783593 PMID:28098151 PMID:28492532 PMID:32561839 PMID:36349709 More...
NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
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Pygm
muscle glycogen phosphorylase
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,434,438...6,448,494
Ensembl chr19:6,434,429...6,448,489
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Qki
quaking, KH domain containing RNA binding
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26829751
NCBI chr17:10,425,480...10,538,706
Ensembl chr17:10,421,530...10,538,783
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Raf1
v-raf-leukemia viral oncogene 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glioma
CTD ClinVar
PMID:23583981
NCBI chr 6:115,595,530...115,653,596
Ensembl chr 6:115,595,028...115,653,596
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Rasgrp2
RAS, guanyl releasing protein 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,449,038...6,465,243
Ensembl chr19:6,449,370...6,465,246
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Rassf1
Ras association (RalGDS/AF-6) domain family member 1
ISO
RGD
PMID:17325427
RGD:2291979
NCBI chr 9:107,428,752...107,439,460
Ensembl chr 9:107,428,754...107,439,466
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Rcor2
REST corepressor 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:7,244,759...7,252,590
Ensembl chr19:7,244,690...7,252,590
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Rela
v-rel reticuloendotheliosis viral oncogene homolog A (avian)
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
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Ret
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
PMID:25741868
NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679
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Rnf43
ring finger protein 43
exacerbates
ISO
protein:decreased expression:brain, brainstem (human)
RGD
PMID:25755738
RGD:151361124
NCBI chr11:87,553,913...87,626,365
Ensembl chr11:87,553,548...87,626,365
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Ros1
Ros1 proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276365
NCBI chr10:51,920,959...52,071,494
Ensembl chr10:51,921,817...52,071,340
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Rps6ka4
ribosomal protein S6 kinase, polypeptide 4
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,806,573...6,819,513
Ensembl chr19:6,806,578...6,818,004
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Rtel1
regulator of telomere elongation helicase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19578366 PMID:19578367
NCBI chr 2:180,961,504...180,998,409
Ensembl chr 2:180,961,532...180,998,409
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Sac3d1
SAC3 domain containing 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,166,025...6,168,689
Ensembl chr19:6,166,030...6,168,680
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Scyl1
SCY1-like 1 (S. cerevisiae)
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:5,808,450...5,821,461
Ensembl chr19:5,808,379...5,821,447
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Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
ISO
protein:increased expression:plasma
RGD
PMID:14977830
RGD:13208546
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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Setd9-ps
SET domain containing 9, pseudogene
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr13:111,858,051...111,860,850
Ensembl chr13:111,858,013...111,860,868
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Setdb1
SET domain, bifurcated 1
severity
ISO
protein:increased expression:brain, cell nucleus (human)
RGD
PMID:23943221
RGD:9590166
NCBI chr 3:95,230,836...95,264,513
Ensembl chr 3:95,230,836...95,264,513
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Sf1
splicing factor 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,413,952...6,428,060
Ensembl chr19:6,413,720...6,428,060
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Sh3gl1
SH3-domain GRB2-like 1
disease_progression severity
ISO
protein:increased expression:cytoplasm,white matter:
RGD
PMID:23050879 PMID:23050879 PMID:23050879
RGD:13463483 , RGD:13463483 , RGD:13463483
NCBI chr17:56,323,750...56,343,659
Ensembl chr17:56,323,750...56,343,635
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Sh3tc2
SH3 domain and tetratricopeptide repeats 2
ISO
ClinVar Annotator: match by term: Brainstem glioma
ClinVar
NCBI chr18:62,086,002...62,148,790
Ensembl chr18:62,086,146...62,157,473
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Sipa1
signal-induced proliferation associated gene 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:5,701,211...5,713,758
Ensembl chr19:5,701,213...5,713,735
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Sirt2
sirtuin 2
treatment
ISO
RGD
PMID:23522375
RGD:9586035
NCBI chr 7:28,466,192...28,488,086
Ensembl chr 7:28,466,160...28,488,086
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Slc22a12
solute carrier family 22 (organic anion/cation transporter), member 12
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,585,884...6,593,100
Ensembl chr19:6,585,875...6,593,062
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Slc25a45
solute carrier family 25, member 45
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:5,927,828...5,935,796
Ensembl chr19:5,927,836...5,935,906
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Slc39a11
solute carrier family 39 (metal ion transporter), member 11
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr11:113,135,677...113,541,050
Ensembl chr11:113,135,679...113,540,905
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Slc44a1
solute carrier family 44, member 1
ISO
DNA:gene fusion: :
RGD
PMID:26671581
RGD:11087038
NCBI chr 4:53,440,387...53,622,478
Ensembl chr 4:53,440,413...53,622,478
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Slc5a5
solute carrier family 5 (sodium iodide symporter), member 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12489024
NCBI chr 8:71,335,529...71,345,429
Ensembl chr 8:71,335,533...71,345,401
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Slc6a3
solute carrier family 6 (neurotransmitter transporter, dopamine), member 3
ISO
protein:decreased expression
RGD
PMID:14698456
RGD:1625668
NCBI chr13:73,684,270...73,726,791
Ensembl chr13:73,684,866...73,726,791
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Slc7a5
solute carrier family 7 (cationic amino acid transporter, y+ system), member 5
ameliorates
ISO
RGD
PMID:16496379
RGD:151361115
NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433
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Snx15
sorting nexin 15
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,169,429...6,182,446
Ensembl chr19:6,169,429...6,178,334
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Sod1
superoxide dismutase 1, soluble
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11861405
NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
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Sox6
SRY (sex determining region Y)-box 6
ISO
RGD
PMID:15696967
RGD:1580007
NCBI chr 7:115,070,107...115,639,186
Ensembl chr 7:115,070,107...115,638,031
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Sphk1
sphingosine kinase 1
ISO
protein:increased expression:endothelial cell (rat)
RGD
PMID:17316399
RGD:2311379
NCBI chr11:116,421,662...116,427,502
Ensembl chr11:116,421,751...116,427,501
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Spindoc
spindlin interactor and repressor of chromatin binding
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:7,333,828...7,364,491
Ensembl chr19:7,331,443...7,360,359
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Spp1
secreted phosphoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16651633 PMID:16651633
RGD:1581321
NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
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Spry3
sprouty RTK signaling antagonist 3
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
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St6gal1
beta galactoside alpha 2,6 sialyltransferase 1
treatment
ISO
RGD
PMID:11559557
RGD:10043143
NCBI chr16:23,043,478...23,179,100
Ensembl chr16:23,043,490...23,179,100
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Stip1
stress-induced phosphoprotein 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,998,064...7,017,394
Ensembl chr19:6,998,070...7,017,335
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Stmn1
stathmin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17440165
NCBI chr 4:134,195,631...134,201,154
Ensembl chr 4:134,195,631...134,201,154
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Suv39h1
suppressor of variegation 3-9 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr X:7,927,401...7,940,994
Ensembl chr X:7,927,410...7,940,999
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Suz12
SUZ12 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25119042
NCBI chr11:79,883,932...79,924,949
Ensembl chr11:79,883,932...79,924,949
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Syne1
spectrin repeat containing, nuclear envelope 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr10:4,970,192...5,501,013
Ensembl chr10:4,970,917...5,501,482
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Syvn1
synovial apoptosis inhibitor 1, synoviolin
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,096,586...6,103,748
Ensembl chr19:6,096,606...6,103,742
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Tasor
transcription activation suppressor
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr14:27,150,759...27,205,512
Ensembl chr14:27,150,791...27,205,512
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Tert
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18021753 PMID:19578367
NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962
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Tfrc
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16904380
NCBI chr16:32,427,714...32,451,612
Ensembl chr16:32,427,738...32,451,612
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Tigd3
tigger transposable element derived 3
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:5,941,166...5,944,156
Ensembl chr19:5,941,166...5,944,177
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Tm7sf2
transmembrane 7 superfamily member 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,112,851...6,117,880
Ensembl chr19:6,112,851...6,118,403
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Tnc
tenascin C
ISO
protein:increased expression:brain
RGD
PMID:16928692
RGD:4889612
NCBI chr 4:63,878,022...63,965,554
Ensembl chr 4:63,878,022...63,965,252
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Tnf
tumor necrosis factor
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22199285 PMID:11810046
RGD:10450725
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfsf10
tumor necrosis factor (ligand) superfamily, member 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16820965 PMID:19229339
NCBI chr 3:27,371,226...27,393,814
Ensembl chr 3:27,371,177...27,396,576
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Top2a
topoisomerase (DNA) II alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18402387
NCBI chr11:98,883,773...98,915,037
Ensembl chr11:98,883,769...98,915,015
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Traf3
TNF receptor-associated factor 3
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr12:111,132,799...111,233,589
Ensembl chr12:111,132,804...111,233,587
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Trim29
tripartite motif-containing 29
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30929997
NCBI chr 9:43,222,012...43,247,422
Ensembl chr 9:43,222,145...43,247,412
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Trmt112
tRNA methyltransferase 11-2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,887,066...6,888,396
Ensembl chr19:6,887,066...6,888,417
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Trp53
transformation related protein 53
ISO EXP
ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3 ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9 ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Malignant glioma CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD RGD
PMID:1200021 PMID:1359493 PMID:1467311 PMID:1565143 PMID:1565144 PMID:1581912 PMID:1591732 PMID:1631137 PMID:1683921 PMID:1915267 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:2259385 PMID:2750177 PMID:2826609 PMID:4122735 PMID:7565304 PMID:7732013 PMID:7783166 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8242752 PMID:8308926 PMID:8401536 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8633021 PMID:8718514 PMID:8756654 PMID:8825920 PMID:9047394 PMID:9150393 PMID:9218725 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9446663 PMID:9472631 PMID:9525742 PMID:9536098 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9607760 PMID:9627118 PMID:9632751 PMID:9662334 PMID:9667734 PMID:9681828 PMID:9704930 PMID:9825943 PMID:9891044 PMID:10089074 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10557074 PMID:10567903 PMID:10589545 PMID:10761705 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10871862 PMID:10922393 PMID:11051239 PMID:11101847 PMID:11139324 PMID:11180592 PMID:11358831 PMID:11370630 PMID:11403041 PMID:11420676 PMID:11429700 PMID:11429705 PMID:11479205 PMID:11593407 PMID:11715068 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12019170 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14559903 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15173255 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16000567 PMID:16199549 PMID:16258005 PMID:16312222 PMID:16401470 PMID:16474844 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16551709 PMID:16682957 PMID:16818505 PMID:16861262 PMID:16899598 PMID:16964264 PMID:16969106 PMID:17015838 PMID:17308077 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17535973 PMID:17540308 PMID:17567834 PMID:17576681 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:17881637 PMID:18307025 PMID:18391940 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:19101993 PMID:19127115 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19454241 PMID:19468865 PMID:19521721 PMID:19556618 PMID:19711436 PMID:19714490 PMID:19881536 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20308654 PMID:20407015 PMID:20436704 PMID:20471942 PMID:20506564 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20589832 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:21056685 PMID:21059199 PMID:21118481 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21348412 PMID:21356188 PMID:21445056 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21619694 PMID:21665182 PMID:21672450 PMID:21674059 PMID:21747090 PMID:21761402 PMID:21946351 PMID:22006311 PMID:22052707 PMID:22109999 PMID:22110706 PMID:22114072 PMID:22170717 PMID:22186996 PMID:22233476 PMID:22265402 PMID:22354696 PMID:22484423 PMID:22672556 PMID:22698404 PMID:22703879 PMID:22713868 PMID:22729912 PMID:22744426 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:23031740 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23406775 PMID:23484829 PMID:23538418 PMID:23624782 PMID:23630318 PMID:23667202 PMID:23792586 PMID:23887774 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24122735 PMID:24224046 PMID:24381225 PMID:24382691 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24665023 PMID:24677579 PMID:24702488 PMID:24705251 PMID:24728327 PMID:24729566 PMID:24744791 PMID:24810334 PMID:24835218 PMID:25059482 PMID:25119042 PMID:25119136 PMID:25123297 PMID:25157968 PMID:25256166 PMID:25339994 PMID:25404506 PMID:25460562 PMID:25503501 PMID:25516983 PMID:25525159 PMID:25533637 PMID:25584008 PMID:25612911 PMID:25637381 PMID:25741868 PMID:25757876 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26200271 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26718964 PMID:26743472 PMID:26786923 PMID:26787237 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27022024 PMID:27149858 PMID:27153395 PMID:27189670 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27458004 PMID:27463065 PMID:27501770 PMID:27516001 PMID:27533082 PMID:27616075 PMID:27621308 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27730344 PMID:27873457 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28279309 PMID:28349240 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28476805 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28873162 PMID:28973705 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29753700 PMID:29875428 PMID:29979965 PMID:30076369 PMID:30107858 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30297838 PMID:30311369 PMID:30327374 PMID:30352134 PMID:30630526 PMID:30709381 PMID:30720243 PMID:30730202 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31206626 PMID:31296311 PMID:31300551 PMID:31742824 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32156018 PMID:32187361 PMID:32295079 PMID:32475984 PMID:32658383 PMID:32817165 PMID:32888145 PMID:32906206 PMID:33087929 PMID:33163847 PMID:33208383 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33633026 PMID:33674644 PMID:33840814 PMID:34240179 PMID:34299313 PMID:34529667 PMID:34675114 PMID:34709361 PMID:35938033 PMID:35974385 PMID:36329109 PMID:36988593 PMID:17599090 More...
RGD:2290571
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Trpm1
transient receptor potential cation channel, subfamily M, member 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 7:63,803,583...63,923,630
Ensembl chr 7:63,803,583...63,919,523
G
Trpt1
tRNA phosphotransferase 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,970,046...6,977,689
Ensembl chr19:6,973,499...6,976,414
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33629929
NCBI chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482
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Tsc1
TSC complex subunit 1
ISO
ClinVar Annotator: match by term: Astrocytoma
ClinVar
PMID:25741868
NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179
G
Txnrd2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr16:18,245,167...18,297,823
Ensembl chr16:18,245,134...18,297,823
G
Vbp1
von Hippel-Lindau binding protein 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr X:74,557,903...74,578,552
Ensembl chr X:74,557,905...74,578,548
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Vegfb
vascular endothelial growth factor B
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,959,840...6,965,019
Ensembl chr19:6,959,841...6,965,019
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Vps51
VPS51 GARP complex subunit
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,117,872...6,127,217
Ensembl chr19:6,117,872...6,127,261
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Xaf1
XIAP associated factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28122345
NCBI chr11:72,192,229...72,204,560
Ensembl chr11:72,192,455...72,204,559
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Xbp1
X-box binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21138464
NCBI chr11:5,470,641...5,475,993
Ensembl chr11:5,470,659...5,475,893
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Xrcc1
X-ray repair complementing defective repair in Chinese hamster cells 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:cd: p.Q399R (rs25487) (human)
CTD RGD
PMID:25227852 PMID:23534771
RGD:401850601
NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865
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Xrcc3
X-ray repair complementing defective repair in Chinese hamster cells 3
susceptibility
ISO
DNA:SNP:cd: p.T241M (rs861539) (Human)
RGD
PMID:23534771
RGD:401850601
NCBI chr12:111,769,626...111,780,326
Ensembl chr12:111,769,626...111,780,307
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Yeats4
YEATS domain containing 4
ISO
RGD
PMID:11521196
RGD:1598696
NCBI chr10:117,051,046...117,060,412
Ensembl chr10:117,051,126...117,060,412
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Zfpl1
zinc finger like protein 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,130,792...6,134,961
Ensembl chr19:6,130,792...6,134,986
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Zfta
zinc finger translocation associated
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:7,394,981...7,403,273
Ensembl chr19:7,394,990...7,403,269
G
Znhit2
zinc finger, HIT domain containing 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:6,111,237...6,112,498
Ensembl chr19:6,111,222...6,112,502
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Znrd2
zinc ribbon domain containing 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:5,780,334...5,781,760
Ensembl chr19:5,780,331...5,781,760 Ensembl chr19:5,780,331...5,781,760
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Pot1a
protection of telomeres 1A
ISO
ClinVar Annotator: match by term: High-grade astrocytoma with piloid features
ClinVar
PMID:25741868
NCBI chr 6:25,743,939...25,809,280
Ensembl chr 6:25,743,736...25,809,245
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Phox2b
paired-like homeobox 2b
ISO
ClinVar Annotator: match by term: Hirschsprung disease ganglioneuroblastoma
ClinVar
PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462 PMID:17637745 PMID:20089899 PMID:23754957 PMID:23873030 More...
NCBI chr 5:67,251,751...67,256,399
Ensembl chr 5:67,251,742...67,256,644
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Fgfr3
fibroblast growth factor receptor 3
ISO IAGP
ClinVar Annotator: match by term: Hypochondroplasia OMIM:146000 CTD Direct Evidence: marker/mechanism DNA:mutation:cds:c.1988 A>C(p.K650T)(human)
OMIM ClinVar MouseDO CTD RGD
PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8723101 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9438390 PMID:9450868 PMID:9452043 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9842995 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10215410 PMID:10360392 PMID:10360393 PMID:10361991 PMID:10395236 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10777366 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11314002 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11754059 PMID:11879084 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17256796 PMID:17384684 PMID:17509076 PMID:17526800 PMID:17552943 PMID:17875876 PMID:17895900 PMID:18000903 PMID:18076102 PMID:18198189 PMID:18252861 PMID:18266238 PMID:18328977 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22339077 PMID:22622662 PMID:22628360 PMID:22903874 PMID:23045425 PMID:23056398 PMID:23149434 PMID:23165795 PMID:23573386 PMID:23726269 PMID:23972473 PMID:24411048 PMID:24715719 PMID:24728327 PMID:25157968 PMID:25505835 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25777271 PMID:25809207 PMID:26220993 PMID:26380986 PMID:26467025 PMID:26619011 PMID:26740388 PMID:26754866 PMID:26818779 PMID:26887047 PMID:26992226 PMID:28181399 PMID:28230213 PMID:28492532 PMID:28763161 PMID:28777845 PMID:29595812 PMID:29620724 PMID:29681095 PMID:30138938 PMID:30355600 PMID:30681580 PMID:30692697 PMID:30753492 PMID:31048079 PMID:31130284 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33511985 PMID:33942288 PMID:36373817 PMID:36714562 PMID:18583390 More...
RGD:11568026
NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412
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4930550C14Rik
RIKEN cDNA 4930550C14 gene
ISO
ClinVar Annotator: match by term: Astrocytoma IDH-mutant
ClinVar
PMID:19781682 PMID:25503501 PMID:25741868 PMID:28492532 PMID:28779002
NCBI chr 9:53,313,814...53,345,726
Ensembl chr 9:53,313,625...53,345,702
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Atm
ataxia telangiectasia mutated
ISO
ClinVar Annotator: match by term: Astrocytoma IDH-mutant
ClinVar
PMID:19781682 PMID:25503501 PMID:25741868 PMID:28492532 PMID:28779002
NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
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Epcam
epithelial cell adhesion molecule
ISO
ClinVar Annotator: match by term: Astrocytoma IDH-mutant
ClinVar
PMID:25741868
NCBI chr17:87,943,407...87,958,555
Ensembl chr17:87,943,407...87,958,557
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Astrocytoma IDH-mutant
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
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Rad54l
RAD54 like (S. cerevisiae)
ISO
ClinVar Annotator: match by term: Astrocytoma IDH-mutant
ClinVar
PMID:25741868
NCBI chr 4:115,951,458...115,980,875
Ensembl chr 4:115,951,461...115,980,887
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Adgrg6
adhesion G protein-coupled receptor G6
ISO IAGP
CTD Direct Evidence: marker/mechanism
CTD MouseDO
PMID:23666238
NCBI chr10:14,278,327...14,421,467
Ensembl chr10:14,278,327...14,421,403
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Celsr2
cadherin, EGF LAG seven-pass G-type receptor 2
ISO
ClinVar Annotator: match by term: Idiopathic scoliosis
ClinVar
PMID:28492532 PMID:29240829
NCBI chr 3:108,298,164...108,323,416
Ensembl chr 3:108,298,167...108,323,383
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Chd7
chromodomain helicase DNA binding protein 7
ISO
ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 3
ClinVar
PMID:17436250 PMID:23883829 PMID:25741868
NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659
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Greb1l
growth regulation by estrogen in breast cancer-like
ISO
ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1
ClinVar
PMID:25741868
NCBI chr18:10,324,933...10,562,945
Ensembl chr18:10,325,177...10,562,940
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Kif7
kinesin family member 7
ISO
ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1
ClinVar
PMID:21552264 PMID:25741868 PMID:28492532
NCBI chr 7:79,347,846...79,365,520
Ensembl chr 7:79,347,846...79,365,468
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Mapk7
mitogen-activated protein kinase 7
ISO
ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1
ClinVar
PMID:28714182
NCBI chr11:61,379,638...61,385,101
Ensembl chr11:61,379,638...61,385,232
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Mbtps1
membrane-bound transcription factor peptidase, site 1
IAGP
MouseDO
NCBI chr 8:120,234,890...120,285,603
Ensembl chr 8:120,234,895...120,285,474
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Prmt5
protein arginine N-methyltransferase 5
IAGP
MouseDO
NCBI chr14:54,744,639...54,754,927
Ensembl chr14:54,744,644...54,754,982
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
IAGP
MouseDO
NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
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Runx3
runt related transcription factor 3
IAGP
MouseDO
NCBI chr 4:134,847,956...134,905,301
Ensembl chr 4:134,847,963...134,905,301
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Brca1
breast cancer 1, early onset
ISO
ClinVar Annotator: match by term: Infant-type hemispheric glioma
ClinVar
PMID:9609997 PMID:19543972 PMID:21990134 PMID:21990165 PMID:24489791 PMID:25452441 PMID:25741868 PMID:25823446 PMID:26467025 PMID:27225819 PMID:27741520 PMID:28492532 PMID:28888541 PMID:29339979 PMID:29446198 PMID:29506128 PMID:29854283 PMID:29907814 PMID:30209399 PMID:30219179 PMID:30339520 PMID:32380732 PMID:32438681 PMID:34572941 More...
NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781
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Akt1
thymoma viral proto-oncogene 1
disease_progression
ISO
RGD
PMID:21590431
RGD:5509092
NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318
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Apoa4
apolipoprotein A-IV
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:16372267
RGD:5685665
NCBI chr 9:46,152,142...46,154,756
Ensembl chr 9:46,151,994...46,154,757
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Bdnf
brain derived neurotrophic factor
ISO
protein:increased expression:dorsal root ganglion:
RGD
PMID:14615047
RGD:8657329
NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
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Col11a1
collagen, type XI, alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17999364
NCBI chr 3:113,823,933...114,014,405
Ensembl chr 3:113,824,189...114,014,367
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Ctsl
cathepsin L
ISO
protein:increased expression:annulus fibrosus (rat)
RGD
PMID:15758467
RGD:2315595
NCBI chr13:64,509,704...64,518,586
Ensembl chr13:64,507,151...64,518,704
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
mRNA, protein:increased expression:spinal cord
RGD
PMID:21224760
RGD:4891907
NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055
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Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
protein:increased expression:spinal cord
RGD
PMID:21224760
RGD:4891907
NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945
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Gc
vitamin D binding protein
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:16868893
RGD:5509883
NCBI chr 5:89,565,370...89,605,757
Ensembl chr 5:89,565,381...89,605,757
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Htr2a
5-hydroxytryptamine (serotonin) receptor 2A
treatment
ISO
RGD
PMID:25584948
RGD:401938625
NCBI chr14:74,878,314...74,944,299
Ensembl chr14:74,878,280...74,946,934
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Igf1
insulin-like growth factor 1
ISO
RGD
PMID:21037532
RGD:8549460
NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
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Il1rl1
interleukin 1 receptor-like 1
ISO
protein:increased expression:spinal cord:
RGD
PMID:29329586
RGD:40400909
NCBI chr 1:40,444,105...40,504,575
Ensembl chr 1:40,468,730...40,504,575
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Il33
interleukin 33
ISO
protein:increased expression:spinal cord:
RGD
PMID:29329586
RGD:40400909
NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
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Kmt2d
lysine (K)-specific methyltransferase 2D
severity
ISO
RGD
PMID:32599142
RGD:155598599
NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085
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Mir223
microRNA 223
disease_progression
ISO
RGD
PMID:28460630
RGD:25823200
NCBI chr X:95,286,423...95,286,532
Ensembl chr X:95,286,423...95,286,532
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Tnf
tumor necrosis factor
ISO
RGD
PMID:24826482
RGD:10450584
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfrsf1b
tumor necrosis factor receptor superfamily, member 1b
ISO
human protein in rat model
RGD
PMID:21057386
RGD:5131270
NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440
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Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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Srd5a3
steroid 5 alpha-reductase 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Kahrizi syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE
OMIM CTD ClinVar
PMID:18781183 PMID:20637498 PMID:20700148 PMID:20852264 PMID:22304929 PMID:24433453 PMID:25326635 PMID:25741868 PMID:27480077 PMID:28492532 PMID:28940310 PMID:31638560 PMID:32581362 More...
NCBI chr 5:76,285,296...76,303,350
Ensembl chr 5:76,288,118...76,303,351
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1700018B08Rik
RIKEN cDNA 1700018B08 gene
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr 8:122,257,515...122,271,077
Ensembl chr 8:122,257,519...122,271,059
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Acsf3
acyl-CoA synthetase family member 3
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316 PMID:31690835
NCBI chr 8:123,502,209...123,544,626
Ensembl chr 8:123,502,225...123,544,619
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Ankrd11
ankyrin repeat domain 11
ISO IAGP
ClinVar Annotator: match by term: ANKRD11-related condition | ClinVar Annotator: match by term: KBG syndrome | ClinVar Annotator: match by term: Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies CTD Direct Evidence: marker/mechanism DNA:deletions, SNPs:CDS:multiple (human) DNA:mutations:CDS:multiple (human) OMIM:148050
OMIM ClinVar CTD MouseDO RGD
PMID:9536098 PMID:15378538 PMID:15523620 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19344873 PMID:19920853 PMID:21782149 PMID:23463723 PMID:23494856 PMID:24033266 PMID:24088041 PMID:25125236 PMID:25326635 PMID:25356970 PMID:25413698 PMID:25424714 PMID:25464108 PMID:25533962 PMID:25652421 PMID:25741868 PMID:26467025 PMID:26633542 PMID:26633545 PMID:27055092 PMID:27605097 PMID:27651234 PMID:27667800 PMID:27900361 PMID:28449295 PMID:28492532 PMID:28529015 PMID:28708303 PMID:28976722 PMID:29100083 PMID:29258554 PMID:29517769 PMID:29565525 PMID:30182498 PMID:30202406 PMID:30919572 PMID:30945278 PMID:31191201 PMID:31337854 PMID:31602316 PMID:31607427 PMID:31690835 PMID:32124548 PMID:32222090 PMID:32238909 PMID:32581362 PMID:33144682 PMID:33955014 PMID:34012832 PMID:35330407 PMID:35682590 PMID:35710456 PMID:35833929 PMID:35970914 PMID:21782149 PMID:25424714 More...
RGD:11068938 , RGD:11086621
NCBI chr 8:123,610,060...123,769,023
Ensembl chr 8:123,610,561...123,769,016
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Aprt
adenine phosphoribosyl transferase
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31690835
NCBI chr 8:123,301,376...123,303,646
Ensembl chr 8:123,301,374...123,303,648
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Banp
BTG3 associated nuclear protein
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr 8:122,674,711...122,755,999
Ensembl chr 8:122,676,489...122,755,997
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Car5a
carbonic anhydrase 5a, mitochondrial
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr 8:122,642,874...122,671,651
Ensembl chr 8:122,642,865...122,671,643
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Cbfa2t3
CBFA2/RUNX1 translocation partner 3
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31690835
NCBI chr 8:123,351,875...123,426,069
Ensembl chr 8:123,351,880...123,425,848
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Cdh15
cadherin 15
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316 PMID:31690835
NCBI chr 8:123,575,113...123,594,136
Ensembl chr 8:123,574,705...123,594,136
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Cdk10
cyclin dependent kinase 10
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr 8:123,951,580...123,958,995
Ensembl chr 8:123,951,581...123,958,989
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Cdt1
chromatin licensing and DNA replication factor 1
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31690835
NCBI chr 8:123,294,754...123,299,869
Ensembl chr 8:123,294,754...123,300,293
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Chmp1a
charged multivesicular body protein 1A
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr 8:123,931,000...123,939,527
Ensembl chr 8:123,931,003...123,939,502
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Cpne7
copine VII
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr 8:123,844,054...123,861,924
Ensembl chr 8:123,844,113...123,861,921
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Ctu2
cytosolic thiouridylase subunit 2
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr 8:123,202,882...123,209,831
Ensembl chr 8:123,202,882...123,210,877
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Cyba
cytochrome b-245, alpha polypeptide
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669
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Dpep1
dipeptidase 1
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr 8:123,913,069...123,928,551
Ensembl chr 8:123,912,981...123,928,551
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Fanca
Fanconi anemia, complementation group A
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315
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Fbxo31
F-box protein 31
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr 8:122,276,182...122,305,607
Ensembl chr 8:122,276,179...122,305,545
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Galns
galactosamine (N-acetyl)-6-sulfatase
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31690835
NCBI chr 8:123,304,976...123,338,226
Ensembl chr 8:123,304,981...123,338,202
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Il17c
interleukin 17C
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr 8:123,147,912...123,150,820
Ensembl chr 8:123,148,759...123,150,378
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Jph3
junctophilin 3
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr 8:122,457,298...122,517,822
Ensembl chr 8:122,456,362...122,521,015
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Kat6b
K(lysine) acetyltransferase 6B
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:25741868
NCBI chr14:21,549,284...21,722,546
Ensembl chr14:21,531,502...21,722,546
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Klhdc4
kelch domain containing 4
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr 8:122,523,047...122,556,322
Ensembl chr 8:122,523,052...122,556,308
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Map1lc3b
microtubule-associated protein 1 light chain 3 beta
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr 8:122,317,177...122,325,499
Ensembl chr 8:122,317,100...122,325,499
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Mvd
mevalonate (diphospho) decarboxylase
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr 8:123,160,335...123,170,161
Ensembl chr 8:123,160,340...123,170,161
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Pabpn1l
poly(A)binding protein nuclear 1-like
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31690835
NCBI chr 8:123,346,210...123,349,474
Ensembl chr 8:123,346,210...123,349,478
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Piezo1
piezo-type mechanosensitive ion channel component 1
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068
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Rnf166
ring finger protein 166
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr 8:123,192,884...123,202,813
Ensembl chr 8:123,192,886...123,202,803
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Rpl13
ribosomal protein L13
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr 8:123,829,089...123,831,983
Ensembl chr 8:123,829,089...123,831,983
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Setd5
SET domain containing 5
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
NCBI chr 6:113,054,326...113,130,393
Ensembl chr 6:113,054,326...113,130,396
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Slc7a5
solute carrier family 7 (cationic amino acid transporter, y+ system), member 5
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433
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Snai3
snail family zinc finger 3
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr 8:123,180,943...123,187,546
Ensembl chr 8:123,180,947...123,187,472
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Spata2l
spermatogenesis associated 2-like
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr 8:123,958,994...123,962,997
Ensembl chr 8:123,956,540...123,962,972
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Spata33
spermatogenesis associated 33
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr 8:123,939,572...123,948,784
Ensembl chr 8:123,939,571...123,948,785
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Tbx1
T-box 1
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421
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Trappc2l
trafficking protein particle complex 2L
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:21782149 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31690835
NCBI chr 8:123,338,365...123,342,330
Ensembl chr 8:123,338,379...123,343,399
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Vps9d1
VPS9 domain containing 1
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr 8:123,969,095...123,980,961
Ensembl chr 8:123,969,095...123,981,087
G
Zc3h18
zinc finger CCCH-type containing 18
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr 8:123,103,298...123,144,104
Ensembl chr 8:123,103,348...123,144,099
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Zcchc14
zinc finger, CCHC domain containing 14
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr 8:122,325,442...122,379,662
Ensembl chr 8:122,325,442...122,379,640
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Zfp26
zinc finger protein 26
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316 PMID:31690835
NCBI chr 9:20,338,457...20,371,465
Ensembl chr 9:20,339,745...20,371,458
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Zfp276
zinc finger protein (C2H2 type) 276
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr 8:123,980,934...123,997,290
Ensembl chr 8:123,980,934...123,996,484
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Zfp469
zinc finger protein 469
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr 8:122,770,009...122,999,389
Ensembl chr 8:122,985,359...122,999,389
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Zfpm1
zinc finger protein, multitype 1
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr 8:123,008,595...123,064,601
Ensembl chr 8:123,008,880...123,063,990
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Gdf6
growth differentiation factor 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CERVICAL VERTEBRAL FUSION, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Klippel-Feil syndrome
CTD ClinVar
PMID:18425797 PMID:19129173 PMID:23307924 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32737436 PMID:38025229 More...
NCBI chr 4:9,844,372...9,862,345
Ensembl chr 4:9,844,372...9,862,345
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Meox1
mesenchyme homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr11:101,768,336...101,785,309
Ensembl chr11:101,768,336...101,785,200
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Myo18b
myosin XVIIIb
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome
ClinVar
PMID:25741868
NCBI chr 5:112,836,742...113,044,311
Ensembl chr 5:112,836,742...113,044,228
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Cfap418
cilia and flagella associated protein 418
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant
ClinVar
PMID:24442880 PMID:28492532
NCBI chr 4:10,874,249...10,899,425
Ensembl chr 4:10,874,498...10,899,425
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Gdf6
growth differentiation factor 6
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant
OMIM ClinVar
PMID:9129173 PMID:18425797 PMID:19129173 PMID:19864492 PMID:20057906 PMID:20494911 PMID:21070663 PMID:22204637 PMID:23307924 PMID:24033266 PMID:24442880 PMID:25741868 PMID:25741869 PMID:28492532 PMID:32737436 PMID:38025229 More...
NCBI chr 4:9,844,372...9,862,345
Ensembl chr 4:9,844,372...9,862,345
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Lrrk2
leucine-rich repeat kinase 2
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant
ClinVar
PMID:18412265 PMID:18688798 PMID:18716801 PMID:18781329 PMID:19699188 PMID:20301387 PMID:20642453 PMID:21885347 PMID:25243190 PMID:26930193 PMID:28492532 More...
NCBI chr15:91,556,994...91,700,327
Ensembl chr15:91,557,378...91,700,323
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Mterf3
mitochondrial transcription termination factor 3
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant
ClinVar
PMID:24442880 PMID:28492532
NCBI chr13:67,053,520...67,081,148
Ensembl chr13:67,055,032...67,081,152
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Ndufaf6
NADH:ubiquinone oxidoreductase complex assembly factor 6
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant
ClinVar
PMID:24442880 PMID:28492532
NCBI chr 4:11,048,991...11,076,393
Ensembl chr 4:11,051,045...11,076,205
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Plekhf2
pleckstrin homology domain containing, family F (with FYVE domain) member 2
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant
ClinVar
PMID:24442880 PMID:28492532
NCBI chr 4:10,988,662...11,007,619
Ensembl chr 4:10,988,662...11,007,927
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Ptdss1
phosphatidylserine synthase 1
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant
ClinVar
PMID:24442880 PMID:28492532
NCBI chr13:67,080,894...67,146,465
Ensembl chr13:67,080,894...67,146,465
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Uqcrb
ubiquinol-cytochrome c reductase binding protein
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant
ClinVar
PMID:24442880 PMID:28492532
NCBI chr13:67,048,640...67,053,414
Ensembl chr13:67,048,681...67,053,442
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Meox1
mesenchyme homeobox 1
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 2, autosomal recessive
OMIM ClinVar
PMID:23290072 PMID:24073994
NCBI chr11:101,768,336...101,785,309
Ensembl chr11:101,768,336...101,785,200
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Ripply2
ripply transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 2, autosomal recessive
ClinVar
PMID:25343988 PMID:26238661
NCBI chr 9:86,897,590...86,902,494
Ensembl chr 9:86,897,590...86,901,970
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Acsm4
acyl-CoA synthetase medium-chain family member 4
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 7:119,289,249...119,313,789
Ensembl chr 7:119,289,249...119,313,788
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Aicda
activation-induced cytidine deaminase
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139
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Apobec1
apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:122,554,755...122,580,068
Ensembl chr 6:122,554,751...122,579,403
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Atn1
atrophin 1
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:124,719,507...124,733,450
Ensembl chr 6:124,719,507...124,733,487 Ensembl chr 6:124,719,507...124,733,487
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C1rb
complement component 1, r subcomponent B
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:124,547,389...124,558,003
Ensembl chr 6:124,547,253...124,558,130
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C1rl
complement component 1, r subcomponent-like
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:124,470,072...124,487,602
Ensembl chr 6:124,470,072...124,487,602
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C1s1
complement component 1, s subcomponent 1
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:124,507,303...124,519,340
Ensembl chr 6:124,507,304...124,519,318
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C3ar1
complement component 3a receptor 1
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:122,824,099...122,833,116
Ensembl chr 6:122,824,097...122,833,120
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Cd163
CD163 antigen
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
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Cdca3
cell division cycle associated 3
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:124,806,533...124,810,664
Ensembl chr 6:124,806,510...124,810,664
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Clec4a1
C-type lectin domain family 4, member a1
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:122,898,807...122,911,578
Ensembl chr 6:122,898,807...122,911,578
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Clec4a3
C-type lectin domain family 4, member a3
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:122,929,474...122,946,837
Ensembl chr 6:122,929,474...122,946,834
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Clec4b1
C-type lectin domain family 4, member b1
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:123,026,921...123,048,514
Ensembl chr 6:123,026,921...123,048,514
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Clec4d
C-type lectin domain family 4, member d
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:123,239,066...123,252,227
Ensembl chr 6:123,239,070...123,252,224
G
Clec4e
C-type lectin domain family 4, member e
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:123,258,748...123,266,830
Ensembl chr 6:123,258,748...123,266,829
G
Clec4n
C-type lectin domain family 4, member n
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:123,206,802...123,223,983
Ensembl chr 6:123,206,802...123,223,980
G
Clstn3
calsyntenin 3
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:124,407,715...124,441,743
Ensembl chr 6:124,407,540...124,441,753
G
Dppa3
developmental pluripotency-associated 3
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:122,603,383...122,607,230
Ensembl chr 6:122,603,369...122,607,231
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Emg1
EMG1 N1-specific pseudouridine methyltransferase
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:124,681,344...124,689,118
Ensembl chr 6:124,681,048...124,689,141
G
Eno2
enolase 2, gamma neuronal
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:124,737,018...124,746,489
Ensembl chr 6:124,737,016...124,746,636
G
Fam90a1b
family with sequence similarity 90, member A1B
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr X:93,383,509...93,410,513
Ensembl chr X:93,398,659...93,410,383 Ensembl chr X:93,398,659...93,410,383
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Foxj2
forkhead box J2
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:122,797,143...122,822,325
Ensembl chr 6:122,796,873...122,822,325
G
Gdf3
growth differentiation factor 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
OMIM CTD ClinVar
PMID:19864492 PMID:25741868 PMID:28492532 PMID:29735971
NCBI chr 6:122,582,362...122,587,046
Ensembl chr 6:122,582,362...122,587,046
G
Gnb3
guanine nucleotide binding protein (G protein), beta 3
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:124,811,203...124,817,238
Ensembl chr 6:124,811,203...124,817,238
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Grcc10
gene rich cluster, C10 gene
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:124,716,146...124,718,032
Ensembl chr 6:124,716,146...124,718,337
G
Lpcat3
lysophosphatidylcholine acyltransferase 3
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:124,639,887...124,681,142
Ensembl chr 6:124,639,990...124,681,381
G
Lrrc23
leucine rich repeat containing 23
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:124,746,832...124,757,411
Ensembl chr 6:124,746,826...124,756,690
G
Mfap5
microfibrillar associated protein 5
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:122,490,543...122,506,249
Ensembl chr 6:122,482,804...122,506,249
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Mir141
microRNA 141
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:124,694,877...124,694,948
Ensembl chr 6:124,694,877...124,694,948
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Mir200c
microRNA 200c
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:124,695,285...124,695,353
Ensembl chr 6:124,695,285...124,695,353
G
Nanog
Nanog homeobox
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:122,684,448...122,691,592
Ensembl chr 6:122,684,448...122,691,592
G
Necap1
NECAP endocytosis associated 1
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:122,851,516...122,865,902
Ensembl chr 6:122,851,433...122,865,900
G
P3h3
prolyl 3-hydroxylase 3
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:124,818,052...124,834,680
Ensembl chr 6:124,818,052...124,834,715
G
Pex5
peroxisomal biogenesis factor 5
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:124,373,774...124,392,878
Ensembl chr 6:124,373,775...124,392,026
G
Phb2
prohibitin 2
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:124,689,252...124,693,908
Ensembl chr 6:124,689,299...124,693,913
G
Ptpn6
protein tyrosine phosphatase, non-receptor type 6
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:124,697,670...124,715,672
Ensembl chr 6:124,697,670...124,715,677
G
Rimklb
ribosomal modification protein rimK-like family member B
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:122,424,255...122,464,021
Ensembl chr 6:122,424,255...122,475,720
G
Slc2a3
solute carrier family 2 (facilitated glucose transporter), member 3
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:122,704,783...122,779,149
Ensembl chr 6:122,704,768...122,778,599
G
Spsb2
splA/ryanodine receptor domain and SOCS box containing 2
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:124,785,640...124,787,582
Ensembl chr 6:124,785,624...124,787,582
G
Tpi1
triosephosphate isomerase 1
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:124,787,549...124,791,121
Ensembl chr 6:124,787,549...124,791,259
G
Usp5
ubiquitin specific peptidase 5 (isopeptidase T)
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:124,791,982...124,806,404
Ensembl chr 6:124,791,982...124,806,447
G
Myo18b
myosin XVIIIb
ISO
ClinVar Annotator: match by term: Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | ClinVar Annotator: match by term: Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism | ClinVar Annotator: match by term: MYO18B-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25748484 PMID:26752647 PMID:27858739 PMID:28492532 PMID:31195167 PMID:31230720 PMID:32184166 PMID:32637634 PMID:33179433 More...
NCBI chr 5:112,836,742...113,044,311
Ensembl chr 5:112,836,742...113,044,228
G
Hoxa11
homeobox A11
ISO
mRNA:decreased expression:verterbra
RGD
PMID:18327665
RGD:11354896
NCBI chr 6:52,219,086...52,222,784
Ensembl chr 6:52,219,086...52,222,790
G
Hoxc10
homeobox C10
ISO
mRNA:decreased expression:verterbra
RGD
PMID:18327665
RGD:11354896
NCBI chr15:102,875,231...102,880,333
Ensembl chr15:102,875,231...102,880,328
G
Hoxd10
homeobox D10
ISO
mRNA:decreased expression:verterbra
RGD
PMID:18327665
RGD:11354896
NCBI chr 2:74,514,617...74,525,450
Ensembl chr 2:74,522,268...74,525,449
G
Hoxd11
homeobox D11
ISO
mRNA:decreased expression:verterbra
RGD
PMID:18327665
RGD:11354896
NCBI chr 2:74,509,902...74,517,360
Ensembl chr 2:74,509,901...74,517,360
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Elp1
elongator complex protein 1
ISO
RGD
PMID:11097445
RGD:5129159
NCBI chr 4:56,746,547...56,802,565
Ensembl chr 4:56,749,680...56,802,331
G
Fkbp10
FK506 binding protein 10
ISO
ClinVar Annotator: match by term: Kyphosis
ClinVar
PMID:20362275 PMID:20839288 PMID:21567934 PMID:22689593 PMID:22949511 PMID:25741868 PMID:26538303 PMID:27509835 PMID:27717089 PMID:27762305 PMID:28492532 More...
NCBI chr11:100,306,520...100,315,666
Ensembl chr11:100,306,523...100,315,650
G
Ltbp3
latent transforming growth factor beta binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11790802
NCBI chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560
G
Parp1
poly (ADP-ribose) polymerase family, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20561897
NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819
G
Plod1
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15666309
NCBI chr 4:147,994,210...148,021,233
Ensembl chr 4:147,994,210...148,021,224
G
Slc26a2
solute carrier family 26 (sulfate transporter), member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18925670
NCBI chr18:61,329,926...61,344,668
Ensembl chr18:61,325,991...61,344,684
G
Slc39a13
solute carrier family 39 (metal ion transporter), member 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18985159
NCBI chr 2:90,892,136...90,900,754
Ensembl chr 2:90,892,136...90,900,762
G
Gle1
GLE1 RNA export mediator
ISO
ClinVar Annotator: match by term: Lethal congenital contracture syndrome
ClinVar
NCBI chr 2:29,825,421...29,849,444
Ensembl chr 2:29,825,438...29,850,383
G
Gle1
GLE1 RNA export mediator
ISO
ClinVar Annotator: match by term: Lethal autosomal recessive syndrome of multiple congenital contractures | ClinVar Annotator: match by term: Lethal congenital contractural syndrome Finnish type | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7770128 PMID:16892327 PMID:18204449 PMID:24243016 PMID:24961629 PMID:25741868 PMID:28492532 PMID:28884921 PMID:29899397 PMID:32954510 More...
NCBI chr 2:29,825,421...29,849,444
Ensembl chr 2:29,825,438...29,850,383
G
Nek9
NIMA (never in mitosis gene a)-related expressed kinase 9
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lethal congenital contracture syndrome 10
OMIM CTD ClinVar
PMID:25741868 PMID:26908619
NCBI chr12:85,346,288...85,386,136
Ensembl chr12:85,346,288...85,386,136
G
Gldn
gliomedin
ISO
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 11 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:27616481 PMID:28726266 PMID:31680123 PMID:31680349 PMID:32860008 PMID:33820833 PMID:35740734 PMID:35806855 More...
NCBI chr 9:54,193,770...54,249,061
Ensembl chr 9:54,193,770...54,249,070
G
Erbb3
erb-b2 receptor tyrosine kinase 3
ISO
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 2 CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:17701904 PMID:25741868
NCBI chr10:128,403,392...128,425,504
Ensembl chr10:128,403,392...128,425,521
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Pip5k1c
phosphatidylinositol-4-phosphate 5-kinase, type 1 gamma
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lethal congenital contracture syndrome 3
OMIM CTD ClinVar
PMID:17701898 PMID:25741868
NCBI chr10:81,128,669...81,155,808
Ensembl chr10:81,128,797...81,155,807
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Mybpc1
myosin binding protein C, slow-type
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lethal congenital contracture syndrome 4
OMIM CTD ClinVar
PMID:18414213 PMID:22610851 PMID:25741868
NCBI chr10:88,354,141...88,441,051
Ensembl chr10:88,354,141...88,441,014
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Dnm2
dynamin 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lethal congenital contracture syndrome 5
OMIM CTD ClinVar
PMID:23092955 PMID:25741868
NCBI chr 9:21,336,167...21,419,055
Ensembl chr 9:21,336,204...21,419,055
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Zbtb42
zinc finger and BTB domain containing 42
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lethal congenital contracture syndrome 6
OMIM CTD ClinVar
PMID:25055871 PMID:25741868
NCBI chr12:112,645,042...112,649,181
Ensembl chr12:112,645,262...112,649,181
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Cntnap1
contactin associated protein-like 1
ISO
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:24319099 PMID:25741868 PMID:27668699 PMID:27818385 PMID:28254648 PMID:28374019 PMID:28492532 PMID:29882456 PMID:30686628 PMID:30919572 PMID:31395954 PMID:31397905 PMID:32328110 PMID:34645488 PMID:34930662 More...
NCBI chr11:101,065,429...101,081,550
Ensembl chr11:101,061,349...101,081,550
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Dicer1
dicer 1, ribonuclease type III
ISO
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7
ClinVar
PMID:19556464 PMID:25741868 PMID:26925222
NCBI chr12:104,654,001...104,718,331
Ensembl chr12:104,654,001...104,718,211
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Adcy6
adenylate cyclase 6
ISO
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:23806086 PMID:24088041 PMID:24319099 PMID:25741868 PMID:26257172 PMID:31846058 More...
NCBI chr15:98,484,982...98,508,119
Ensembl chr15:98,487,854...98,507,957
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Spmip11
sperm microtubule inner protein 11
ISO
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8
ClinVar
PMID:24319099
NCBI chr15:98,468,885...98,487,469
Ensembl chr15:98,468,885...98,487,461
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Adgrg6
adhesion G protein-coupled receptor G6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lethal congenital contracture syndrome 9
OMIM CTD ClinVar
PMID:25741868 PMID:26004201 PMID:26752647 PMID:28492532
NCBI chr10:14,278,327...14,421,467
Ensembl chr10:14,278,327...14,421,403
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Pisd
phosphatidylserine decarboxylase
ISO
ClinVar Annotator: match by term: Liberfarb syndrome | ClinVar Annotator: match by term: PISD-related mitochondrial disease
OMIM ClinVar
PMID:3561949 PMID:25741868 PMID:28492532 PMID:30488656 PMID:30858161 PMID:31263216 More...
NCBI chr 5:32,893,645...32,943,008
Ensembl chr 5:32,893,645...32,942,990
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Acan
aggrecan
IMP
RGD
PMID:9192671
RGD:1300269
NCBI chr 7:78,702,974...78,764,847
Ensembl chr 7:78,703,231...78,764,847
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Rin2
Ras and Rab interactor 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Macrocephaly, alopecia, cutis laxa, and scoliosis | ClinVar Annotator: match by term: RIN2-related condition | ClinVar Annotator: match by term: TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS
OMIM CTD ClinVar
PMID:19631308 PMID:20424861 PMID:20954239 PMID:24449201 PMID:25741868 PMID:27277385 PMID:28492532 PMID:30769224 More...
NCBI chr 2:145,613,647...145,729,536
Ensembl chr 2:145,517,135...145,729,536
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Acvr1
activin A receptor, type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24705250
NCBI chr 2:58,336,450...58,456,840
Ensembl chr 2:58,278,656...58,457,169
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Adgrb1
adhesion G protein-coupled receptor B1
severity
ISO
RGD
PMID:23761815
RGD:13831356
NCBI chr15:74,388,045...74,461,314
Ensembl chr15:74,388,044...74,461,314
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Akt1
thymoma viral proto-oncogene 1
disease_progression
ISO
RGD
PMID:19240976
RGD:5509079
NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318
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Akt2
thymoma viral proto-oncogene 2
severity
ISO
RGD
PMID:20167810
RGD:13674163
NCBI chr 7:27,290,977...27,340,251
Ensembl chr 7:27,290,977...27,340,251
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Akt3
thymoma viral proto-oncogene 3
severity
ISO
RGD
PMID:20167810
RGD:13674163
NCBI chr 1:176,847,642...177,091,688
Ensembl chr 1:176,847,639...177,085,769
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Anxa1
annexin A1
ISO
associated with Tuberous Sclerosis;mRNA:increased expression:brain
RGD
PMID:20133820
RGD:7421564
NCBI chr19:20,350,798...20,368,035
Ensembl chr19:20,350,792...20,368,308
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Ar
androgen receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24680642
NCBI chr X:97,192,363...97,366,824
Ensembl chr X:97,192,375...97,366,821
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Atrx
ATRX, chromatin remodeler
disease_progression severity
ISO
RGD
PMID:24810474 PMID:23765250
RGD:9586026 , RGD:11040585
NCBI chr X:104,841,221...104,972,978
Ensembl chr X:104,841,221...104,973,009
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Braf
Braf transforming gene
onset
ISO
CTD Direct Evidence: marker/mechanism DNA:rearrangement: : DNA:mutation:cds:p.V600E(human)
CTD RGD
PMID:23817572 PMID:19794125 PMID:25346165
RGD:11069832 , RGD:11567238
NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397
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Brd7
bromodomain containing 7
severity
ISO
protein:increased expression:brain:
RGD
PMID:24404152
RGD:9586441
NCBI chr 8:89,056,522...89,089,249
Ensembl chr 8:89,057,667...89,088,822
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Bst2
bone marrow stromal cell antigen 2
severity
ISO
RGD
PMID:21565182
RGD:14398497
NCBI chr 8:71,986,899...71,990,116
Ensembl chr 8:71,986,899...71,990,100
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Cadm2
cell adhesion molecule 2
severity
ISO
protein:decreased expression:brain
RGD
PMID:30816549
RGD:19165125
NCBI chr16:66,452,302...67,417,825
Ensembl chr16:66,452,307...67,417,796
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Camk2g
calcium/calmodulin-dependent protein kinase II gamma
disease_progression
ISO
RGD
PMID:12937144
RGD:13702480
NCBI chr14:20,784,943...20,844,225
Ensembl chr14:20,784,943...20,844,156
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Ccnd1
cyclin D1
severity
ISO
RGD
PMID:10419598
RGD:13681931
NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
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D630045J12Rik
RIKEN cDNA D630045J12 gene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23817572
NCBI chr 6:38,100,109...38,231,074
Ensembl chr 6:38,100,109...38,230,944
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Dll3
delta like canonical Notch ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 7:27,992,980...28,001,210
Ensembl chr 7:27,992,978...28,001,663
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Dok2
docking protein 2
disease_progression
ISO
mRNA,protein:increased expression, increased phosphorylation:astrocytoma (human)
RGD
PMID:27975172
RGD:152177494
NCBI chr14:71,003,336...71,015,934
Ensembl chr14:71,003,476...71,015,935
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Esr1
estrogen receptor 1 (alpha)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24680642
NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614
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Esr2
estrogen receptor 2 (beta)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24680642
NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033
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Fgfr1
fibroblast growth factor receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23817572
NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
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Fubp1
far upstream element (FUSE) binding protein 1
ISO
mRNA:increased expression:brain (human)
RGD
PMID:32481602
RGD:151361197
NCBI chr 3:151,916,059...151,942,467
Ensembl chr 3:151,916,059...151,942,463
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G3bp1
G3BP stress granule assembly factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106762
NCBI chr11:55,360,521...55,391,722
Ensembl chr11:55,360,511...55,395,664
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Gstm1
glutathione S-transferase, mu 1
severity
ISO
DNA:deletion: :
RGD
PMID:12241105
RGD:5490125
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
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Gstp1
glutathione S-transferase, pi 1
susceptibility
ISO
DNA:polymorphism:exon:p.A114V (human)
RGD
PMID:12241105
RGD:5490125
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
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Hey1
hairy/enhancer-of-split related with YRPW motif 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 3:8,728,419...8,732,098
Ensembl chr 3:8,728,419...8,732,316
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Hey2
hairy/enhancer-of-split related with YRPW motif 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr10:30,708,355...30,718,779
Ensembl chr10:30,708,355...30,718,797
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Hgf
hepatocyte growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11223164
NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150
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Hif1a
hypoxia inducible factor 1, alpha subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341671
NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304
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Il16
interleukin 16
ISO
protein:increased expression:brain
RGD
PMID:17221335
RGD:5024941
NCBI chr 7:83,292,027...83,395,479
Ensembl chr 7:83,292,033...83,394,934
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Kras
Kirsten rat sarcoma viral oncogene homolog
susceptibility
ISO IGI
sporadic pilocytic astrocytoma, OMIM:137800 DNA:mutation:cds:p.G12D(mouse) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23817572 PMID:16247081 PMID:24038521
RGD:1600476 , RGD:13702858
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
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Lats1
large tumor suppressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17049657
NCBI chr10:7,556,964...7,592,225
Ensembl chr10:7,556,978...7,592,224
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Lats2
large tumor suppressor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17049657
NCBI chr14:57,927,119...57,983,669
Ensembl chr14:57,927,119...57,995,845 Ensembl chr14:57,927,119...57,995,845
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Map2k3
mitogen-activated protein kinase kinase 3
ISO
protein:increased expression, increased phosphorylation:brain
RGD
PMID:17406030
RGD:1641940
NCBI chr11:60,822,880...60,843,637
Ensembl chr11:60,822,859...60,843,637
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Met
met proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11223164
NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979
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Mir155hg
Mir155 host gene (non-protein coding)
severity
ISO
RGD
PMID:27764782
RGD:11571728
NCBI chr16:84,509,911...84,512,133
Ensembl chr16:84,500,055...84,512,133
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Mmp3
matrix metallopeptidase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20188714
NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975
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Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20188714
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Mre11a
MRE11A homolog A, double strand break repair nuclease
severity
ISO
mRNA:decreased expression:brain tumor (human)
RGD
PMID:17034947
RGD:2317736
NCBI chr 9:14,695,971...14,748,421
Ensembl chr 9:14,695,950...14,748,419
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Ncoa3
nuclear receptor coactivator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24680642
NCBI chr 2:165,834,557...165,915,162
Ensembl chr 2:165,834,556...165,915,162
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Ndrg1
N-myc downstream regulated gene 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341671
NCBI chr15:66,801,167...66,841,490
Ensembl chr15:66,801,167...66,841,489
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Nedd8
neural precursor cell expressed, developmentally down-regulated gene 8
ISO
RGD
PMID:12533840
RGD:1549458
NCBI chr14:55,899,720...55,909,337
Ensembl chr14:55,899,720...55,909,581
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Nf1
neurofibromin 1
IMP ISO
protein:decreased expression:brain: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20176786 PMID:23817572 PMID:10973261 PMID:10931370
RGD:1302542 , RGD:12743656
NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
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Notch1
notch 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675
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Notch2
notch 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 3:97,920,854...98,057,683
Ensembl chr 3:97,920,843...98,057,677
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Ntrk2
neurotrophic tyrosine kinase, receptor, type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23817572
NCBI chr13:58,954,363...59,281,782
Ensembl chr13:58,954,383...59,281,784
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Pcmt1
protein-L-isoaspartate (D-aspartate) O-methyltransferase 1
ISO
protein:decreased expression,decreased activity:brain:
RGD
PMID:15857672
RGD:10448283
NCBI chr10:7,503,608...7,556,922
Ensembl chr10:7,505,137...7,556,900
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23817572
NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
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Slc7a5
solute carrier family 7 (cationic amino acid transporter, y+ system), member 5
disease_progression
ISO
RGD
PMID:16496379
RGD:151361115
NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433
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Tial1
Tia1 cytotoxic granule-associated RNA binding protein-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106762
NCBI chr 7:128,041,496...128,063,450
Ensembl chr 7:128,041,501...128,063,441
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Trp53
transformation related protein 53
susceptibility
EXP ISO IGI
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Malignant astrocytoma DNA:nonsense mutation:cds:
CTD ClinVar RGD
PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:2046748 PMID:4122735 PMID:7565304 PMID:7783166 PMID:8401536 PMID:8402598 PMID:8425176 PMID:8550239 PMID:8718514 PMID:8829627 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9667734 PMID:10519380 PMID:10922393 PMID:11370630 PMID:11782540 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15722483 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15958617 PMID:16206219 PMID:16401470 PMID:16494995 PMID:16551709 PMID:16818505 PMID:17015838 PMID:17311302 PMID:17606709 PMID:18511570 PMID:19012332 PMID:19468865 PMID:20128691 PMID:20176786 PMID:20407015 PMID:20522432 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22672556 PMID:22915647 PMID:23161690 PMID:23246812 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24573247 PMID:24835218 PMID:24857548 PMID:25157968 PMID:25186627 PMID:25584008 PMID:25619955 PMID:25741868 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26585234 PMID:26619011 PMID:26786923 PMID:26845104 PMID:26878390 PMID:26911350 PMID:27077130 PMID:27276561 PMID:27463065 PMID:27621308 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28975465 PMID:29581140 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30709381 PMID:30816478 PMID:32000721 PMID:32156018 PMID:32475984 PMID:32817165 PMID:32888145 PMID:33163847 PMID:33245408 PMID:33407742 PMID:33840814 PMID:34529667 PMID:34709361 PMID:35974385 PMID:36988593 PMID:24038521 More...
RGD:13702858
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Ank3
ankyrin 3, epithelial
ISO
ClinVar Annotator: match by term: Classic medulloblastoma
ClinVar
NCBI chr10:69,234,608...69,863,266
Ensembl chr10:69,234,603...69,863,268
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Apc
APC, WNT signaling pathway regulator
ISO
associated with Adenomatous Polyposis Coli;DNA:mutations: : CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:7661930 PMID:17238184
RGD:6484523
NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605
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Arid1a
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:26822237
NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080
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Arid1b
AT-rich interaction domain 1B
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:25741868 PMID:26822237
NCBI chr17:5,044,481...5,397,931
Ensembl chr17:5,044,607...5,397,931
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Atoh1
atonal bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18347096
NCBI chr 6:64,706,109...64,708,229
Ensembl chr 6:64,706,109...64,708,229
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Bap1
Brca1 associated protein 1
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:24970262 PMID:25741868 PMID:26719535 PMID:28492532 PMID:29641532 PMID:32068069 More...
NCBI chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901
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Brca2
breast cancer 2, early onset
IMP ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:251866 PMID:278235 PMID:2200631 PMID:8589730 PMID:8673090 PMID:9150172 PMID:9150174 PMID:9667259 PMID:9792861 PMID:10644434 PMID:10660329 PMID:10790213 PMID:10978364 PMID:11149425 PMID:11179017 PMID:11307153 PMID:11389159 PMID:11400546 PMID:11597388 PMID:11802209 PMID:11843247 PMID:11857748 PMID:12065746 PMID:12373604 PMID:12655567 PMID:12845657 PMID:12955716 PMID:14559878 PMID:14647210 PMID:14670928 PMID:15024741 PMID:15070707 PMID:15131399 PMID:15168169 PMID:15340362 PMID:15382066 PMID:15689453 PMID:15800311 PMID:16030099 PMID:16168118 PMID:16168123 PMID:16199547 PMID:16284991 PMID:16389418 PMID:16455195 PMID:16683254 PMID:16758124 PMID:16825431 PMID:16905680 PMID:16912212 PMID:16920162 PMID:17063270 PMID:17148771 PMID:17301269 PMID:17513806 PMID:17574839 PMID:17688236 PMID:17925560 PMID:17972171 PMID:18042939 PMID:18393245 PMID:18446624 PMID:18465347 PMID:18489799 PMID:18703817 PMID:18704680 PMID:19016756 PMID:19241424 PMID:19491284 PMID:19620486 PMID:19654294 PMID:19656164 PMID:19863560 PMID:19941162 PMID:19941167 PMID:19949876 PMID:19967274 PMID:20033483 PMID:20104584 PMID:20167696 PMID:20373018 PMID:20616022 PMID:20694749 PMID:20736950 PMID:20858050 PMID:21120943 PMID:21205087 PMID:21324516 PMID:21520273 PMID:21643751 PMID:21702907 PMID:21709188 PMID:21913181 PMID:21918853 PMID:21952622 PMID:22006311 PMID:22009639 PMID:22085629 PMID:22144684 PMID:22217648 PMID:22426013 PMID:22505045 PMID:22535016 PMID:22632462 PMID:22666503 PMID:22752604 PMID:22762150 PMID:22798144 PMID:22923021 PMID:23096105 PMID:23199084 PMID:23233716 PMID:23318356 PMID:23415752 PMID:23469205 PMID:23479189 PMID:23569316 PMID:23613520 PMID:23621881 PMID:23725378 PMID:23767878 PMID:23942203 PMID:24033266 PMID:24055113 PMID:24123850 PMID:24141157 PMID:24156927 PMID:24301060 PMID:24312913 PMID:24504028 PMID:24528374 PMID:24556621 PMID:24607278 PMID:24728189 PMID:24814045 PMID:24830819 PMID:24884479 PMID:24916970 PMID:25066507 PMID:25085752 PMID:25136594 PMID:25186627 PMID:25236687 PMID:25330149 PMID:25348012 PMID:25382762 PMID:25428789 PMID:25452441 PMID:25525159 PMID:25637381 PMID:25682074 PMID:25737278 PMID:25741868 PMID:25802882 PMID:25863477 PMID:25884701 PMID:25927356 PMID:26026974 PMID:26064523 PMID:26187060 PMID:26219728 PMID:26287763 PMID:26295337 PMID:26360800 PMID:26425718 PMID:26439132 PMID:26467025 PMID:26541979 PMID:26580448 PMID:26657402 PMID:26681312 PMID:26687385 PMID:26689913 PMID:26786923 PMID:26834852 PMID:26845104 PMID:27153395 PMID:27165126 PMID:27257965 PMID:27376475 PMID:27425403 PMID:27433846 PMID:27469594 PMID:27553368 PMID:27732944 PMID:27741520 PMID:27767231 PMID:27831900 PMID:27836010 PMID:28008555 PMID:28039656 PMID:28111427 PMID:28176296 PMID:28243543 PMID:28281021 PMID:28294317 PMID:28324225 PMID:28423363 PMID:28477318 PMID:28492532 PMID:28503720 PMID:28541631 PMID:28616458 PMID:28657667 PMID:28715532 PMID:28724667 PMID:28726808 PMID:28831036 PMID:28915716 PMID:28918466 PMID:28973083 PMID:28993434 PMID:29061375 PMID:29084914 PMID:29088781 PMID:29161300 PMID:29176636 PMID:29321669 PMID:29339979 PMID:29348823 PMID:29360161 PMID:29371908 PMID:29446198 PMID:29478780 PMID:29483665 PMID:29489754 PMID:29492181 PMID:29506128 PMID:29625052 PMID:29752822 PMID:29753700 PMID:29790872 PMID:29907814 PMID:29909963 PMID:29915322 PMID:30078507 PMID:30093976 PMID:30122538 PMID:30128899 PMID:30199306 PMID:30274973 PMID:30287823 PMID:30309722 PMID:30322717 PMID:30350268 PMID:30548481 PMID:30606148 PMID:30612635 PMID:30630528 PMID:30696104 PMID:30702160 PMID:30720243 PMID:30720863 PMID:30787465 PMID:30875412 PMID:30972954 PMID:31112363 PMID:31131967 PMID:31174498 PMID:31209999 PMID:31214711 PMID:31263054 PMID:31263571 PMID:31331294 PMID:31360904 PMID:31396961 PMID:31411802 PMID:31447099 PMID:31451522 PMID:31589614 PMID:31721781 PMID:31742824 PMID:31825140 PMID:31837001 PMID:31911673 PMID:31948886 PMID:31957001 PMID:31980526 PMID:32029870 PMID:32098980 PMID:32101877 PMID:32164353 PMID:32190957 PMID:32295079 PMID:32300229 PMID:32318955 PMID:32338768 PMID:32341426 PMID:32354836 PMID:32426482 PMID:32438681 PMID:32467295 PMID:32521533 PMID:32581362 PMID:32710294 PMID:32719484 PMID:32720237 PMID:32772980 PMID:32846166 PMID:32853339 PMID:32875559 PMID:32885271 PMID:33008098 PMID:33087929 PMID:33113089 PMID:33309985 PMID:33372952 PMID:33461583 PMID:33471991 PMID:33478551 PMID:33608381 PMID:33773534 PMID:33918338 PMID:34008015 PMID:34196900 PMID:34399810 PMID:34413315 PMID:34567246 PMID:34657373 PMID:35220195 PMID:35264596 PMID:35353237 PMID:35535697 PMID:35753294 PMID:36329109 PMID:36988593 PMID:17476307 More...
RGD:11038793
NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794
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Brd2
bromodomain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24231268
NCBI chr17:34,330,993...34,341,581
Ensembl chr17:34,330,997...34,341,608
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Brd3
bromodomain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24231268
NCBI chr 2:27,335,588...27,397,669
Ensembl chr 2:27,335,591...27,397,674
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Brd4
bromodomain containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24231268 PMID:31594641
NCBI chr17:32,415,246...32,503,717
Ensembl chr17:32,415,248...32,503,696
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Ccnd1
cyclin D1
IMP
RGD
PMID:16943274
RGD:13681932
NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
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Ccne1
cyclin E1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 7:37,797,409...37,806,915
Ensembl chr 7:37,797,409...37,806,959
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Cdk6
cyclin dependent kinase 6
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19270706 PMID:23138228 PMID:16314645
RGD:13702096
NCBI chr 5:3,391,004...3,581,008
Ensembl chr 5:3,391,485...3,581,008
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Cdk9
cyclin dependent kinase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31594641
NCBI chr 2:32,595,794...32,608,098
Ensembl chr 2:32,595,796...32,603,088
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 PMID:10192393 PMID:10391090 PMID:10666372 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:19234609 PMID:23033978 PMID:23265383 PMID:24614104 PMID:25157968 PMID:25326635 PMID:25326669 PMID:25741868 PMID:26350204 PMID:26619011 PMID:26822237 PMID:27915094 PMID:27959697 PMID:28333917 PMID:28492532 PMID:28575650 PMID:31526516 More...
NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573
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Ddx3x
DEAD box helicase 3, X-linked
ISO
ClinVar Annotator: match by term: Medulloblastoma CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:26822237 PMID:27058758
NCBI chr X:13,147,261...13,160,222
Ensembl chr X:13,147,209...13,160,291
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Dicer1
dicer 1, ribonuclease type III
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:25741868
NCBI chr12:104,654,001...104,718,331
Ensembl chr12:104,654,001...104,718,211
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Dnmt1
DNA methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19155313
NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184
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Ehmt1
euchromatic histone methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 2:24,680,781...24,809,658
Ensembl chr 2:24,679,940...24,809,626
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Elp1
elongator complex protein 1
ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:11179008 PMID:11179021 PMID:12116234 PMID:16199547 PMID:16964593 PMID:17206408 PMID:17576681 PMID:18303054 PMID:20301359 PMID:22190446 PMID:22850346 PMID:22975760 PMID:23515154 PMID:24033266 PMID:24173031 PMID:25741868 PMID:26392352 PMID:27065010 PMID:28492532 PMID:29289840 PMID:29762696 PMID:32296180 More...
NCBI chr 4:56,746,547...56,802,565
Ensembl chr 4:56,749,680...56,802,331
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Ep300
E1A binding protein p300
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:26619011
NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20168248
NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542
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Esr2
estrogen receptor 2 (beta)
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21351254
NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033
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Fbxw7
F-box and WD-40 domain protein 7
ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar
PMID:26619011
NCBI chr 3:84,721,901...84,886,505
Ensembl chr 3:84,722,575...84,886,505
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Fgfr1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:10766980 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 PMID:33448156 More...
NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
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Fli1
Friend leukemia integration 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 9:32,333,500...32,454,292
Ensembl chr 9:32,333,500...32,454,157
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Foxo3
forkhead box O3
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:26822237
NCBI chr10:42,057,841...42,152,691
Ensembl chr10:42,057,837...42,152,751
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Gpr161
G protein-coupled receptor 161
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Medulloblastoma
OMIM CTD ClinVar
PMID:31609649
NCBI chr 1:165,108,760...165,154,314
Ensembl chr 1:165,123,358...165,154,314
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Gstm1
glutathione S-transferase, mu 1
ISO
DNA:deletion: :
RGD
PMID:18952980
RGD:5490237
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
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Gstt1
glutathione S-transferase, theta 1
ISO
DNA:deletion: :
RGD
PMID:18952980
RGD:5490237
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
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Hic1
hypermethylated in cancer 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18347096
NCBI chr11:75,052,203...75,059,970
Ensembl chr11:75,055,391...75,060,345
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Idh1
isocitrate dehydrogenase 1 (NADP+), soluble
ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 More...
NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659
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Irs2
insulin receptor substrate 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 8:11,034,681...11,058,929
Ensembl chr 8:11,034,681...11,058,458
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Kat6a
K(lysine) acetyltransferase 6A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 8:23,349,458...23,433,275
Ensembl chr 8:23,349,551...23,433,275
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Kdm4b
lysine (K)-specific demethylase 4B
ISO
mRNA:increased expression:brain (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19270706 PMID:19270706
RGD:9587481
NCBI chr17:56,632,975...56,710,774
Ensembl chr17:56,633,062...56,709,870
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Kdm4c
lysine (K)-specific demethylase 4C
ISO
mRNA:increased expression:brain (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19270706 PMID:19270706
RGD:9587481
NCBI chr 4:74,160,734...74,324,101
Ensembl chr 4:74,160,734...74,324,097
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L3mbtl2
L3MBTL2 polycomb repressive complex 1 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr15:81,548,090...81,572,516
Ensembl chr15:81,548,090...81,572,516
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L3mbtl3
L3MBTL3 histone methyl-lysine binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr10:26,150,361...26,252,426
Ensembl chr10:26,150,366...26,251,967
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Mpl
myeloproliferative leukemia virus oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 4:118,299,609...118,314,771
Ensembl chr 4:118,299,612...118,314,710
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Myc
myelocytomatosis oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706 PMID:31694585
NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223
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Mycl
v-myc avian myelocytomatosis viral oncogene lung carcinoma derived
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 4:122,889,414...122,896,278
Ensembl chr 4:122,889,445...122,896,278
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Mycn
v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Medulloblastoma
CTD ClinVar
PMID:19270706 PMID:26619011
NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915
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Nono
non-POU-domain-containing, octamer binding protein
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:25741868 PMID:26822237
NCBI chr X:100,473,295...100,492,193
Ensembl chr X:100,472,924...100,492,197
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Nras
neuroblastoma ras oncogene
ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar
PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:8120410 PMID:16291983 PMID:17332249 PMID:17517660 PMID:18375819 PMID:18390968 PMID:18633438 PMID:19657110 PMID:19775298 PMID:20130576 PMID:20179705 PMID:21079152 PMID:22962325 PMID:23414587 PMID:23431193 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 More...
NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230
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Otx2
orthodenticle homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276
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Pdgfra
platelet derived growth factor receptor, alpha polypeptide
severity
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19270706 PMID:25576913
RGD:13702904
NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23946963 PMID:24033266 PMID:24782230 PMID:25157968 PMID:25741868 PMID:25915946 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26822237 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28492532 PMID:29446767 PMID:29988677 PMID:31536475 PMID:31775759 PMID:34008892 PMID:34496175 PMID:37712948 More...
NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21652733
NCBI chr12:32,223,128...32,258,675
Ensembl chr12:32,223,472...32,258,658
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Pramex1
PRAME like, X-linked 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16179254
NCBI chr X:134,513,662...134,528,437
Ensembl chr X:134,513,751...134,528,454
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Prkar1a
protein kinase, cAMP dependent regulatory, type I, alpha
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:26822237 PMID:28492532
NCBI chr11:109,539,849...109,560,489
Ensembl chr11:109,540,231...109,560,482
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Prmt5
protein arginine N-methyltransferase 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:31694585
NCBI chr14:54,744,639...54,754,927
Ensembl chr14:54,744,644...54,754,982
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Ptch1
patched 1
ISO IMP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Medulloblastoma OMIM:155255
CTD ClinVar MouseDO RGD
PMID:16301862 PMID:16419085 PMID:18347096 PMID:19155313 PMID:19213072 PMID:22952776 PMID:25741868 PMID:28492532 PMID:19321799 More...
RGD:150523834
NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412
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Ptch2
patched 2
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 4:116,953,253...116,973,298
Ensembl chr 4:116,953,272...116,973,298
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Rassf1
Ras association (RalGDS/AF-6) domain family member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21880625
NCBI chr 9:107,428,752...107,439,460
Ensembl chr 9:107,428,754...107,439,466
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Rb1
RB transcriptional corepressor 1
IGI ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar RGD
PMID:25741868 PMID:28492532 PMID:10783170
RGD:1302544
NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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Ret
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:11436122 PMID:24033266 PMID:25741868 PMID:28492532 PMID:36900197
NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679
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S100a10
S100 calcium binding protein A10 (calpactin)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17579622
NCBI chr 3:93,462,424...93,471,952
Ensembl chr 3:93,462,387...93,471,950
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S100a4
S100 calcium binding protein A4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17579622
NCBI chr 3:90,511,077...90,513,349
Ensembl chr 3:90,511,078...90,513,352
G
S100a6
S100 calcium binding protein A6 (calcyclin)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17579622
NCBI chr 3:90,520,491...90,531,797
Ensembl chr 3:90,520,189...90,531,488
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Scg5
secretogranin V
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17334394
NCBI chr 2:113,606,708...113,659,423
Ensembl chr 2:113,606,707...113,659,466
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Scml2
Scm polycomb group protein like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr X:159,865,521...160,041,214
Ensembl chr X:159,865,521...160,041,209
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Sf3b2
splicing factor 3b, subunit 2
ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar
PMID:26619011
NCBI chr19:5,323,949...5,345,485
Ensembl chr19:5,323,960...5,345,483
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Skp2
S-phase kinase-associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr15:9,112,070...9,155,512
Ensembl chr15:9,112,073...9,155,512
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Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:26822237
NCBI chr 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526
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Smo
smoothened, frizzled class receptor
treatment
ISO IMP
ClinVar Annotator: match by term: Medulloblastoma
ClinVar RGD
PMID:19726788 PMID:22679179 PMID:25759020 PMID:22084163
RGD:150521622
NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364
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Smyd4
SET and MYND domain containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr11:75,239,259...75,296,533
Ensembl chr11:75,239,259...75,296,531
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19001435
NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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Strada
STE20-related kinase adaptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21652733
NCBI chr11:106,053,739...106,084,460
Ensembl chr11:106,054,156...106,092,994
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Sufu
SUFU negative regulator of hedgehog signaling
ISO
protein:increased expression:brain (rat) ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:12068298 PMID:17102621 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 PMID:24651015 PMID:24728327 PMID:25326637 PMID:25403219 PMID:25741868 PMID:26467025 PMID:26580448 PMID:28492532 PMID:28717660 PMID:28873162 PMID:29186568 PMID:29641532 PMID:29753700 PMID:33024317 PMID:34056767 PMID:34675124 PMID:35768194 PMID:36825822 PMID:27234928 More...
RGD:150573693
NCBI chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243
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Trp53
transformation related protein 53
disease_progression
ISO IGI
protein:increased expression:nucleus: ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar RGD
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 PMID:1683921 PMID:1737852 PMID:1978757 PMID:2046748 PMID:2826609 PMID:7732013 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8825920 PMID:9096669 PMID:9150393 PMID:9242456 PMID:9290701 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9632751 PMID:9635828 PMID:9704930 PMID:9825943 PMID:10089074 PMID:10411893 PMID:10797439 PMID:10864200 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11479205 PMID:11782540 PMID:11793474 PMID:11920959 PMID:12007217 PMID:12672316 PMID:12826609 PMID:12917626 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15951970 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16861262 PMID:17308077 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17606709 PMID:17636407 PMID:17881637 PMID:18511570 PMID:18685109 PMID:19378321 PMID:19454241 PMID:19556618 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20522432 PMID:20693561 PMID:21059199 PMID:21187651 PMID:21305319 PMID:21319261 PMID:21343334 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22265402 PMID:22484423 PMID:22710932 PMID:22713868 PMID:22811390 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22955915 PMID:22983585 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23263379 PMID:23538418 PMID:23612969 PMID:23667202 PMID:23792586 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25339994 PMID:25503501 PMID:25525159 PMID:25584008 PMID:25612911 PMID:25741868 PMID:25787918 PMID:25925845 PMID:25927356 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26230955 PMID:26271412 PMID:26332594 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26786923 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27533082 PMID:27680515 PMID:27683180 PMID:27724982 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28873162 PMID:28915717 PMID:29025599 PMID:29070607 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29979965 PMID:30076369 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30546832 PMID:30816478 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31296311 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32187361 PMID:32906206 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33633026 PMID:36988593 PMID:11451203 PMID:10783170 More...
RGD:8547823 , RGD:1302544
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Tsc2
TSC complex subunit 2
ISO
DNA:polymorphism:intron
RGD
PMID:11603814
RGD:11072879
NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604
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Tubb4a
tubulin, beta 4A class IVA
ISO
ClinVar Annotator: match by term: Classic medulloblastoma
ClinVar
NCBI chr17:57,387,061...57,394,600
Ensembl chr17:57,387,066...57,394,782
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Vav1
vav 1 oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr17:57,586,080...57,636,236
Ensembl chr17:57,586,100...57,635,031
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Wrn
Werner syndrome RecQ like helicase
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:8968742 PMID:9225981 PMID:16673358 PMID:16786514 PMID:20301687 PMID:24033266 PMID:25182132 PMID:25390333 PMID:25741868 PMID:27667302 PMID:28492532 More...
NCBI chr 8:33,724,400...33,875,591
Ensembl chr 8:33,724,412...33,875,555
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Mycn
v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived
ISO
ClinVar Annotator: match by term: megalencephaly-polydactyly syndrome
ClinVar OMIM
PMID:25741868 PMID:30573562
NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915
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Cdkn2a
cyclin dependent kinase inhibitor 2A
ISO
ClinVar Annotator: match by term: Melanoma and neural system tumor syndrome | ClinVar Annotator: match by term: Melanoma astrocytoma syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:865368 PMID:2677576 PMID:5001868 PMID:7566978 PMID:7640518 PMID:7647780 PMID:7666917 PMID:7718873 PMID:7780957 PMID:7796400 PMID:7881419 PMID:7987387 PMID:7987388 PMID:8012957 PMID:8213823 PMID:8521414 PMID:8552158 PMID:8552400 PMID:8570179 PMID:8573142 PMID:8595405 PMID:8603820 PMID:8653684 PMID:8668202 PMID:8710906 PMID:8723678 PMID:8727306 PMID:8755727 PMID:8880901 PMID:9036865 PMID:9053859 PMID:9132280 PMID:9166859 PMID:9324288 PMID:9328469 PMID:9389568 PMID:9416844 PMID:9425228 PMID:9516223 PMID:9536098 PMID:9603434 PMID:9699728 PMID:9751050 PMID:9823374 PMID:9856841 PMID:9916806 PMID:10389768 PMID:10390011 PMID:10398427 PMID:10491434 PMID:10498896 PMID:10508477 PMID:10627132 PMID:10667595 PMID:10719365 PMID:10738302 PMID:10869234 PMID:10874641 PMID:10892805 PMID:10922411 PMID:10951521 PMID:10956390 PMID:11075991 PMID:11136714 PMID:11156381 PMID:11319798 PMID:11477665 PMID:11500805 PMID:11506491 PMID:11518711 PMID:11556834 PMID:11571653 PMID:11579459 PMID:11595726 PMID:11687599 PMID:11726555 PMID:11807902 PMID:11815963 PMID:12001124 PMID:12072543 PMID:12352668 PMID:12454511 PMID:12517341 PMID:12606942 PMID:12700603 PMID:12853981 PMID:14508519 PMID:14646620 PMID:14679123 PMID:15009729 PMID:15075790 PMID:15146471 PMID:15150307 PMID:15235029 PMID:15761864 PMID:15856016 PMID:15860862 PMID:15863662 PMID:15945100 PMID:16169933 PMID:16234564 PMID:16307646 PMID:16397522 PMID:16818274 PMID:16896043 PMID:16905682 PMID:17047042 PMID:17055252 PMID:17167857 PMID:17171691 PMID:17218939 PMID:17397031 PMID:17440112 PMID:17492760 PMID:17576681 PMID:17713569 PMID:17909018 PMID:17992122 PMID:18023021 PMID:18025365 PMID:18178632 PMID:18335566 PMID:18337833 PMID:18363633 PMID:18519632 PMID:18573309 PMID:18803811 PMID:18813118 PMID:18843795 PMID:18981015 PMID:18983535 PMID:19260062 PMID:19331830 PMID:19360740 PMID:19484507 PMID:19500876 PMID:19523171 PMID:19571771 PMID:19712690 PMID:19799798 PMID:20093296 PMID:20340136 PMID:20526219 PMID:20539244 PMID:20653773 PMID:20876876 PMID:21085193 PMID:21150883 PMID:21325014 PMID:21462282 PMID:21614589 PMID:21801156 PMID:21893440 PMID:22440936 PMID:22447455 PMID:22636603 PMID:22804906 PMID:22841127 PMID:23190892 PMID:23371019 PMID:23897584 PMID:24185512 PMID:24659262 PMID:24660985 PMID:24728327 PMID:24733792 PMID:24737347 PMID:24935963 PMID:25023876 PMID:25064638 PMID:25078331 PMID:25157968 PMID:25186627 PMID:25227142 PMID:25356972 PMID:25685612 PMID:25741868 PMID:25780468 PMID:25787093 PMID:25803691 PMID:25813228 PMID:25877891 PMID:25980754 PMID:26104880 PMID:26206375 PMID:26223839 PMID:26225579 PMID:26381259 PMID:26467025 PMID:26542317 PMID:26581427 PMID:26619011 PMID:26650189 PMID:26650572 PMID:26658419 PMID:26670561 PMID:26681309 PMID:26775776 PMID:26845104 PMID:27181379 PMID:27267843 PMID:27287845 PMID:27756164 PMID:27804060 PMID:27960642 PMID:27993330 PMID:28060055 PMID:28135145 PMID:28146043 PMID:28440912 PMID:28454591 PMID:28492532 PMID:28592523 PMID:28640387 PMID:28717660 PMID:28726808 PMID:28765326 PMID:28830827 PMID:28873162 PMID:28944238 PMID:28979722 PMID:29091774 PMID:29263814 PMID:29316957 PMID:29464027 PMID:29506128 PMID:29541281 PMID:29543703 PMID:29641532 PMID:29661971 PMID:29684080 PMID:29774366 PMID:29922827 PMID:29945567 PMID:29983899 PMID:30038052 PMID:30039340 PMID:30113427 PMID:30207590 PMID:30274933 PMID:30291219 PMID:30303537 PMID:30339520 PMID:30548481 PMID:30709382 PMID:30967399 PMID:31382929 PMID:31432501 PMID:31517177 PMID:31567591 PMID:31921681 PMID:32113160 PMID:32191290 PMID:32455486 PMID:32482799 PMID:32957588 PMID:33050356 PMID:33322357 PMID:33436027 PMID:33753322 PMID:33766116 PMID:33823155 PMID:33945383 PMID:34028844 PMID:34069952 PMID:35001868 PMID:35171259 PMID:35264596 PMID:35566480 PMID:109563903 More...
NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
ClinVar Annotator: match by term: Metatropic dwarfism | ClinVar Annotator: match by term: Metatropic dysplasia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:4056805 PMID:6628444 PMID:8179305 PMID:14755468 PMID:17879966 PMID:19232556 PMID:19661060 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20425821 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21658220 PMID:21964574 PMID:21964829 PMID:22419508 PMID:22689196 PMID:22702953 PMID:22791502 PMID:22851605 PMID:24575025 PMID:24789864 PMID:24830047 PMID:24963089 PMID:25256292 PMID:25326637 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26170305 PMID:26249260 PMID:26377240 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27530454 PMID:27751652 PMID:28166811 PMID:28251916 PMID:28492532 PMID:28687525 PMID:28898540 PMID:29776788 PMID:29858556 PMID:30230566 PMID:30373780 PMID:31475037 PMID:32376792 PMID:32381727 PMID:34008892 PMID:34529350 More...
NCBI chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482
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Rtel1
regulator of telomere elongation helicase 1
susceptibility
ISO
DNA:SNPs:multiple:multiple (human)
RGD
PMID:30462709
RGD:152977767
NCBI chr 2:180,961,504...180,998,409
Ensembl chr 2:180,961,532...180,998,409
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Abcb1a
ATP-binding cassette, sub-family B member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8761367
NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575
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Alk
anaplastic lymphoma kinase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma Susceptibility
CTD ClinVar
PMID:2124297 PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 PMID:18990089 PMID:20576349 PMID:21030459 PMID:21242967 PMID:21575866 PMID:21804922 PMID:21823617 PMID:21838707 PMID:21859094 PMID:21948233 PMID:21972109 PMID:22071890 PMID:22072639 PMID:22277784 PMID:22286764 PMID:22588779 PMID:22789543 PMID:22920921 PMID:22932897 PMID:22968692 PMID:23104988 PMID:23334666 PMID:24205241 PMID:24327273 PMID:24675991 PMID:25517749 PMID:25741868 PMID:26619011 PMID:26829053 PMID:27132509 PMID:28492532 PMID:28873162 PMID:29489754 PMID:30004444 PMID:30350464 PMID:30605844 More...
NCBI chr17:72,174,206...72,911,719
Ensembl chr17:72,175,967...72,911,622
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Alox5ap
arachidonate 5-lipoxygenase activating protein
ISO
mRNA, protein:increased expression:neuroblastoma (human)
RGD
PMID:18591367
RGD:2313903
NCBI chr 5:149,201,814...149,224,963
Ensembl chr 5:149,201,577...149,224,963
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Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations,loss of heterozygosity: :
CTD RGD
PMID:23202128 PMID:23202128
RGD:13439724
NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080
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Arid1b
AT-rich interaction domain 1B
ISO
CTD Direct Evidence: marker/mechanism DNA:deletion,haploinsufficiency: :
CTD RGD
PMID:23202128 PMID:23202128
RGD:13439724
NCBI chr17:5,044,481...5,397,931
Ensembl chr17:5,044,607...5,397,931
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Atrx
ATRX, chromatin remodeler
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334666 PMID:26523776
NCBI chr X:104,841,221...104,972,978
Ensembl chr X:104,841,221...104,973,009
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Aurka
aurora kinase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22588779
NCBI chr 2:172,198,116...172,212,825
Ensembl chr 2:172,198,110...172,212,455
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Bard1
BRCA1 associated RING domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19412175 PMID:23334666
NCBI chr 1:71,066,694...71,142,300
Ensembl chr 1:71,066,657...71,142,305
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Bche
butyrylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2317787
NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748
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Birc2
baculoviral IAP repeat-containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr 9:7,818,227...7,837,123
Ensembl chr 9:7,818,228...7,837,065
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Birc3
baculoviral IAP repeat-containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187
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Brca2
breast cancer 2, early onset
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:16284991 PMID:19043619 PMID:20127978 PMID:21702907 PMID:22034289 PMID:22711857 PMID:24163242 PMID:25741868 PMID:26467025 PMID:26822237 PMID:28492532 PMID:29884841 PMID:30287823 PMID:31112341 PMID:31131967 PMID:31294896 PMID:31911673 PMID:33428613 PMID:33471991 PMID:33609447 More...
NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794
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Cd44
CD44 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr 2:102,641,486...102,732,014
Ensembl chr 2:102,641,486...102,732,010
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Cd55
CD55 molecule, decay accelerating factor for complement
ISO
RGD
PMID:10850450
RGD:2326181
NCBI chr 1:130,357,526...130,390,513
Ensembl chr 1:130,366,764...130,390,481
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Cdkn2a
cyclin dependent kinase inhibitor 2A
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15814359 PMID:24714808
RGD:10043806
NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
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Chaf1a
chromatin assembly factor 1, subunit A
disease_progression
ISO
mRNA:increased expression: :
RGD
PMID:24335960 PMID:24335960
RGD:9587458 , RGD:9587458
NCBI chr17:56,347,404...56,375,027
Ensembl chr17:56,347,439...56,379,289
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Chd5
chromodomain helicase DNA binding protein 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26121086
NCBI chr 4:152,423,103...152,474,651
Ensembl chr 4:152,423,108...152,474,651
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Chd6
chromodomain helicase DNA binding protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18577749
NCBI chr 2:160,788,898...160,951,006
Ensembl chr 2:160,788,898...160,950,995
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Chek2
checkpoint kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334666
NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011
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Dbh
dopamine beta hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25174395
NCBI chr 2:27,055,519...27,073,216
Ensembl chr 2:27,055,245...27,073,212
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Dock8
dedicator of cytokinesis 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26121086
NCBI chr19:24,976,753...25,179,796
Ensembl chr19:24,976,898...25,179,796
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Esr1
estrogen receptor 1 (alpha)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27366082
NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614
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Fanca
Fanconi anemia, complementation group A
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 PMID:27041517 PMID:28060124 PMID:28492532 PMID:29098742 More...
NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315
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Fgfr1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:10766980 PMID:23819449 PMID:25741868 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 More...
NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412
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Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30127528
NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845
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Gnas
GNAS complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20862257
NCBI chr 2:174,126,113...174,188,537
Ensembl chr 2:174,126,113...174,188,537
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Hace1
HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941191
NCBI chr10:45,453,911...45,588,441
Ensembl chr10:45,453,925...45,588,441
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Hand2
heart and neural crest derivatives expressed 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30127528
NCBI chr 8:57,774,018...57,777,552
Ensembl chr 8:57,774,018...57,777,668
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Hgf
hepatocyte growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16051641
NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150
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Hras
Harvey rat sarcoma virus oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15814359 PMID:26121086
NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918
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Ifnb1
interferon beta 1, fibroblast
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16115947
NCBI chr 4:88,440,253...88,441,083
Ensembl chr 4:88,440,262...88,441,011
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Igf1r
insulin-like growth factor I receptor
ISO
protein: decreased tyrosine phosphorylation: : Y1131
RGD
PMID:17121898
RGD:7242922
NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416
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Igf2bp1
insulin-like growth factor 2 mRNA binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:37246217
NCBI chr11:95,847,989...95,896,770
Ensembl chr11:95,847,989...95,896,766
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Il18
interleukin 18
susceptibility
IMP
RGD
PMID:16428511
RGD:8655920
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Isl1
ISL1 transcription factor, LIM/homeodomain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30127528
NCBI chr13:116,434,806...116,446,224
Ensembl chr13:116,434,817...116,446,225
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Kif1b
kinesin family member 1B
susceptibility
ISO
ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 1 CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:18334619 PMID:24033266 PMID:24469107 PMID:24694336 PMID:25741868 PMID:28492532 PMID:30126838 PMID:30487145 PMID:32376792 PMID:33362715 More...
NCBI chr 4:149,260,776...149,392,762
Ensembl chr 4:149,260,776...149,392,150
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Kras
Kirsten rat sarcoma viral oncogene homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26121086
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
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Lin28b
lin-28 homolog B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941191 PMID:23042116
NCBI chr10:45,252,713...45,362,410
Ensembl chr10:45,252,716...45,362,491
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Map2k4
mitogen-activated protein kinase kinase 4
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr11:65,579,070...65,679,185
Ensembl chr11:65,579,069...65,679,123
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Map2k7
mitogen-activated protein kinase kinase 7
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr 8:4,288,740...4,297,897
Ensembl chr 8:4,288,740...4,297,897 Ensembl chr 8:4,288,740...4,297,897
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Men1
multiple endocrine neoplasia 1
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:25741868
NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921
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Met
met proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma
CTD ClinVar
PMID:16051641 PMID:26822237
NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979
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Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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mt-Co2
cytochrome c oxidase II, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15492235
NCBI chr MT:7,013...7,696
Ensembl chr MT:7,013...7,696
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Mtfp1
mitochondrial fission process 1
severity
ISO
mRNA:increased expression:neural tissue (human)
RGD
PMID:27765905
RGD:12880392
NCBI chr11:4,041,481...4,045,431
Ensembl chr11:4,041,480...4,045,445
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Myb
myeloblastosis oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr10:21,000,829...21,036,883
Ensembl chr10:21,000,834...21,036,883
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Myc
myelocytomatosis oncogene
ISO
ClinVar Annotator: match by term: Neuroblastoma CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:8761367 PMID:25157968 PMID:26619011 PMID:34626302
NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223
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Mycn
v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived
ISO
ClinVar Annotator: match by term: Neuroblastoma CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:16051641 PMID:16989911 PMID:17283129 PMID:18353067 PMID:22286764 PMID:22789543 PMID:23042116 PMID:23334666 PMID:23500671 PMID:25174395 PMID:26523776 PMID:26619011 PMID:26733615 PMID:29379199 PMID:30127528 PMID:37246217 More...
NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915
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Nme1
NME/NM23 nucleoside diphosphate kinase 1
ISO
RGD
PMID:8047138
RGD:1600229
NCBI chr11:93,849,751...93,859,341
Ensembl chr11:93,847,805...93,859,347
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Nnat
neuronatin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17762496
NCBI chr 2:157,401,936...157,404,445
Ensembl chr 2:157,401,998...157,404,442
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Nodal
nodal
ISO
mRNA:increased expression:neural tissue (human)
RGD
PMID:30985990
RGD:155226876
NCBI chr10:61,253,751...61,261,117
Ensembl chr10:61,253,751...61,261,117
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Nras
neuroblastoma ras oncogene
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma
CTD ClinVar
PMID:2674680 PMID:8120410 PMID:10821536 PMID:12460918 PMID:15899789 PMID:16273091 PMID:16291983 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19657110 PMID:19966803 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21729679 PMID:21829508 PMID:22718121 PMID:22761467 PMID:23334666 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24148783 PMID:24671188 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 More...
NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230
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Nsd1
nuclear receptor-binding SET-domain protein 1
severity
ISO
DNA:hypermethylation:promoter:CpG islands (human)
RGD
PMID:20018718
RGD:9590155
NCBI chr13:55,357,595...55,466,138
Ensembl chr13:55,357,595...55,466,138
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Nt5e
5' nucleotidase, ecto
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:34773529
NCBI chr 9:88,209,662...88,254,142
Ensembl chr 9:88,209,250...88,254,145
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Ntrk1
neurotrophic tyrosine kinase, receptor, type 1
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16989911 PMID:8433391
RGD:5684545
NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469
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Ntrk2
neurotrophic tyrosine kinase, receptor, type 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma
CTD ClinVar
PMID:16051641 PMID:26822237
NCBI chr13:58,954,363...59,281,782
Ensembl chr13:58,954,383...59,281,784
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Pak4
p21 (RAC1) activated kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29048629
NCBI chr 7:28,258,244...28,297,609
Ensembl chr 7:28,258,244...28,297,610
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Pecam1
platelet/endothelial cell adhesion molecule 1
ISO
human tumor in mouse model
RGD
PMID:22174364
RGD:6767296
NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454
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Phf6
PHD finger protein 6
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr X:52,001,091...52,045,838
Ensembl chr X:52,001,143...52,045,820
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Phox2b
paired-like homeobox 2b
exacerbates
ISO
ClinVar Annotator: match by term: Neuroblastoma human cell line in a mouse model CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:25174395 PMID:30127528 PMID:26840262
RGD:151667442
NCBI chr 5:67,251,751...67,256,399
Ensembl chr 5:67,251,742...67,256,644
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 PMID:28492532 More...
NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635
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Pink1
PTEN induced putative kinase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma
CTD ClinVar
PMID:23334666 PMID:25741868
NCBI chr 4:138,040,718...138,053,631
Ensembl chr 4:138,040,720...138,053,618
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Pramex1
PRAME like, X-linked 1
severity
ISO
mRNA:increased expression:neural tissue (human)
RGD
PMID:15240516
RGD:11535044
NCBI chr X:134,513,662...134,528,437
Ensembl chr X:134,513,751...134,528,454
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Psmd14
proteasome (prosome, macropain) 26S subunit, non-ATPase, 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30871063
NCBI chr 2:61,542,038...61,630,720
Ensembl chr 2:61,542,038...61,630,720
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma
CTD ClinVar
PMID:11704759 PMID:12161469 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15834506 PMID:15842656 PMID:15928039 PMID:16358218 PMID:16518851 PMID:16830086 PMID:17177198 PMID:17942397 PMID:17972951 PMID:18470943 PMID:18559669 PMID:18678287 PMID:18759865 PMID:19047918 PMID:19179468 PMID:19509418 PMID:19798502 PMID:21901340 PMID:21930766 PMID:22190897 PMID:23334666 PMID:23756559 PMID:23825065 PMID:23832011 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26783207 PMID:26918529 PMID:27069254 PMID:27276561 PMID:27783593 PMID:28074573 PMID:28098151 PMID:28492532 PMID:30868567 PMID:30896080 PMID:32561839 PMID:36349709 More...
NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
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Ptpn14
protein tyrosine phosphatase, non-receptor type 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26121086
NCBI chr 1:189,460,417...189,608,892
Ensembl chr 1:189,460,465...189,608,892
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Rassf1
Ras association (RalGDS/AF-6) domain family member 1
ISO
RGD
PMID:12222680 PMID:17325427
RGD:2291977 , RGD:2291979
NCBI chr 9:107,428,752...107,439,460
Ensembl chr 9:107,428,754...107,439,466
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Rassf5
Ras association (RalGDS/AF-6) domain family member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18452173
NCBI chr 1:131,104,147...131,172,915
Ensembl chr 1:131,104,147...131,172,995
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Rbm15
RNA binding motif protein 15
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr 3:107,212,827...107,244,102
Ensembl chr 3:107,232,737...107,240,989
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Rela
v-rel reticuloendotheliosis viral oncogene homolog A (avian)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
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Scnn1a
sodium channel, nonvoltage-gated 1 alpha
disease_progression
ISO
Low levels of methylation correlate with improved survival
RGD
PMID:21314941
RGD:5509791
NCBI chr 6:125,286,657...125,321,906
Ensembl chr 6:125,297,622...125,321,906
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Sdhc
succinate dehydrogenase complex, subunit C, integral membrane protein
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:21979946 PMID:25741868 PMID:28492532
NCBI chr 1:170,956,726...170,978,209
Ensembl chr 1:170,954,734...170,978,172
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Sema3b
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17452250
NCBI chr 9:107,474,868...107,486,440
Ensembl chr 9:107,474,873...107,486,428
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Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:25741868
NCBI chr 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526
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Snrpe
small nuclear ribonucleoprotein E
severity
ISO
mRNA:decreased expression:neuroblastoma (human)
RGD
PMID:17075126
RGD:10755762
NCBI chr 1:133,531,609...133,538,018
Ensembl chr 1:133,531,609...133,538,029
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Tbx2
T-box 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30127528
NCBI chr11:85,723,441...85,732,774
Ensembl chr11:85,723,377...85,732,774
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Tert
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26523776
NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962
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Th
tyrosine hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25174395
NCBI chr 7:142,446,516...142,453,732
Ensembl chr 7:142,446,489...142,484,865
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfsf10
tumor necrosis factor (ligand) superfamily, member 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16820965
NCBI chr 3:27,371,226...27,393,814
Ensembl chr 3:27,371,177...27,396,576
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Trp53
transformation related protein 53
EXP ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma
CTD ClinVar
PMID:7651740 PMID:9546439 PMID:10064694 PMID:10864200 PMID:11896595 PMID:12826609 PMID:15814359 PMID:15925506 PMID:17390010 PMID:17572079 PMID:19850740 PMID:20407015 PMID:21305319 PMID:21343334 PMID:23894400 PMID:25293557 PMID:25741868 PMID:26619011 PMID:27493922 PMID:28492532 PMID:29979965 PMID:30224644 PMID:34026625 PMID:34240179 More...
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Trp73
transformation related protein 73
no_association
ISO
RGD
PMID:9288759
RGD:1599583
NCBI chr 4:154,140,706...154,224,332
Ensembl chr 4:154,140,706...154,224,665
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Tsc1
TSC complex subunit 1
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:25741868
NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179
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Tsc2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604
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Yap1
yes-associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26121086
NCBI chr 9:7,932,000...8,004,890
Ensembl chr 9:7,932,000...8,004,597
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Zfp276
zinc finger protein (C2H2 type) 276
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 PMID:27041517 PMID:28060124 PMID:28492532 PMID:29098742 More...
NCBI chr 8:123,980,934...123,997,290
Ensembl chr 8:123,980,934...123,996,484
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Phox2b
paired-like homeobox 2b
susceptibility
ISO
ClinVar Annotator: match by term: Neuroblastoma 2 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2
ClinVar OMIM
PMID:12640453 PMID:15024693 PMID:15121777 PMID:15338462 PMID:15657873 PMID:15949893 PMID:16199547 PMID:16249188 PMID:16443855 PMID:16691592 PMID:16763219 PMID:16830328 PMID:17637745 PMID:17765533 PMID:18079495 PMID:19011468 PMID:19058226 PMID:20208042 PMID:23754957 PMID:23873030 PMID:24033266 PMID:24728327 PMID:25156769 PMID:25741868 PMID:27013732 PMID:27153395 PMID:28371199 PMID:28492532 PMID:28873162 PMID:29641532 PMID:33958749 More...
NCBI chr 5:67,251,751...67,256,399
Ensembl chr 5:67,251,742...67,256,644
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Alk
anaplastic lymphoma kinase
susceptibility
ISO
ClinVar Annotator: match by term: ALK-related condition | ClinVar Annotator: match by term: Neuroblastoma 3 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3
OMIM ClinVar
PMID:2124297 PMID:9536098 PMID:15517393 PMID:16199547 PMID:16880530 PMID:17576681 PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 PMID:18990089 PMID:21030459 PMID:21242967 PMID:21575866 PMID:21637378 PMID:21804922 PMID:21838707 PMID:21948233 PMID:21972109 PMID:22071890 PMID:22072639 PMID:22086496 PMID:22277784 PMID:22932897 PMID:23104988 PMID:23334666 PMID:23555315 PMID:24033266 PMID:24129244 PMID:24205241 PMID:24326041 PMID:24327273 PMID:24675991 PMID:24728327 PMID:25054154 PMID:25517749 PMID:25589003 PMID:25640679 PMID:25714698 PMID:25741868 PMID:25801821 PMID:25874976 PMID:25979929 PMID:26002608 PMID:26554404 PMID:26580448 PMID:26619011 PMID:26689913 PMID:26696773 PMID:26829053 PMID:27132509 PMID:27153395 PMID:27179218 PMID:27285993 PMID:27930734 PMID:28185914 PMID:28202063 PMID:28492532 PMID:28873162 PMID:28975465 PMID:29489754 PMID:29625052 PMID:29684080 PMID:30004444 PMID:30350464 PMID:30605844 PMID:30716324 PMID:30982079 PMID:30989433 PMID:31263571 PMID:32984025 PMID:32989326 PMID:33372952 PMID:33486679 PMID:33898318 PMID:36451132 More...
NCBI chr17:72,174,206...72,911,719
Ensembl chr17:72,175,967...72,911,622
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Clip4
CAP-GLY domain containing linker protein family, member 4
ISO
ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr17:72,076,674...72,171,205
Ensembl chr17:72,075,468...72,171,268
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Pcare
photoreceptor cilium actin regulator
ISO
ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr17:72,050,919...72,059,904
Ensembl chr17:72,050,550...72,059,889
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Togaram2
TOG array regulator of axonemal microtubules 2
ISO
ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr17:71,980,153...72,036,666
Ensembl chr17:71,980,256...72,036,664
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Wdr43
WD repeat domain 43
ISO
ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr17:71,923,175...71,966,026
Ensembl chr17:71,922,890...71,966,026
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Hif1a
hypoxia inducible factor 1, alpha subunit
severity
ISO
protein:increased expression:neuroblastoma (human)
RGD
PMID:18431543
RGD:8694471
NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304
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Atrx
ATRX, chromatin remodeler
ISO
ClinVar Annotator: match by term: Oligodendroglioma
ClinVar
NCBI chr X:104,841,221...104,972,978
Ensembl chr X:104,841,221...104,973,009
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Camk2b
calcium/calmodulin-dependent protein kinase II, beta
disease_progression
IEP
RGD
PMID:15750623
RGD:13702479
NCBI chr11:5,919,642...6,016,401
Ensembl chr11:5,919,644...6,016,362
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Cic
capicua transcriptional repressor
ISO
ClinVar Annotator: match by term: Oligodendroglioma
ClinVar
NCBI chr 7:24,967,054...24,993,584
Ensembl chr 7:24,967,129...24,993,584
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Dtx1
deltex 1, E3 ubiquitin ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 5:120,818,268...120,850,879
Ensembl chr 5:120,818,267...120,849,992
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Egf
epidermal growth factor
susceptibility
ISO
DNA:polymorphism:promoter:GG genotypes were associated with increased risk.
RGD
PMID:17473192
RGD:13702474
NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
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Gdnf
glial cell line derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19138852
NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056
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Hes1
hes family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr16:29,883,259...29,886,614
Ensembl chr16:29,883,202...29,886,614
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Hey1
hairy/enhancer-of-split related with YRPW motif 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 3:8,728,419...8,732,098
Ensembl chr 3:8,728,419...8,732,316
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Idh1
isocitrate dehydrogenase 1 (NADP+), soluble
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Oligodendroglioma
CTD ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20160062 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:36201590 More...
NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659
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Idh2
isocitrate dehydrogenase 2 (NADP+), mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20160062
NCBI chr 7:79,744,594...79,768,356
Ensembl chr 7:79,744,594...79,765,140
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Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
DNA:hypermethylation:promoter (human)
RGD
PMID:15455350
RGD:2317688
NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995
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Ptges3
prostaglandin E synthase 3
ISO
protein:increased expression:brain cortex, white matter (human)
RGD
PMID:19347995
RGD:5688067
NCBI chr10:127,894,851...127,913,123
Ensembl chr10:127,894,823...127,913,141
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Rb1
RB transcriptional corepressor 1
disease_progression
ISO
RGD
PMID:15970925
RGD:13782064
NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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Alx4
aristaless-like homeobox 4
ISO
ClinVar Annotator: match by term: Optic nerve glioma
ClinVar
PMID:25741868
NCBI chr 2:93,472,779...93,511,686
Ensembl chr 2:93,472,729...93,511,684
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Cx3cr1
C-X3-C motif chemokine receptor 1
onset
IMP
associated with Neurofibromatosis 1
RGD
PMID:23424002
RGD:9491391
NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945
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Nf1
neurofibromin 1
susceptibility
ISO
associated with Neurofibromatosis 1; DNA:mutations:5'end: ClinVar Annotator: match by term: Optic nerve glioma
ClinVar RGD
PMID:10712197 PMID:16199547 PMID:23913538 PMID:25741868 PMID:28492532 PMID:29483232 PMID:21278392 More...
RGD:12789442
NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
OPLL,OMIM:602475;DNA:polymorphism
RGD
PMID:10453738
RGD:1601041
NCBI chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057
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Bmp4
bone morphogenetic protein 4
susceptibility
ISO
DNA:polymorphism:exon:6007C>T(rs17563)(human)
RGD
PMID:21034624
RGD:9068398
NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
severity
ISO IAGP
DNA:deletion:intron:IVS20-11delT (human) OMIM:602475
MouseDO RGD
PMID:15834329
RGD:13204732
NCBI chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Parastremmatic dwarfism
OMIM CTD ClinVar
PMID:4056805 PMID:6628444 PMID:8179305 PMID:14755468 PMID:17879966 PMID:19232556 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20425821 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21658220 PMID:22702953 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26170305 PMID:26249260 PMID:26377240 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28251916 PMID:28492532 PMID:28687525 PMID:29776788 PMID:29858556 PMID:30230566 PMID:30373780 PMID:32381727 PMID:34008892 More...
NCBI chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482
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Fcgr1
Fc receptor, IgG, high affinity I
ISO
ClinVar Annotator: match by term: Peritoneal Gliomatosis
ClinVar
NCBI chr 3:96,190,225...96,201,285
Ensembl chr 3:96,190,225...96,201,285
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H2-Eb1
histocompatibility 2, class II antigen E beta
ISO
ClinVar Annotator: match by term: Peritoneal Gliomatosis
ClinVar
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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H2bc18
H2B clustered histone 18
ISO
ClinVar Annotator: match by term: Peritoneal Gliomatosis
ClinVar
NCBI chr 3:96,177,016...96,177,508
Ensembl chr 3:96,177,068...96,177,448
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Flcn
folliculin
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma
ClinVar
PMID:15852235 PMID:16199547 PMID:25741868 PMID:28492532
NCBI chr11:59,682,234...59,706,138
Ensembl chr11:59,682,234...59,700,842
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Kras
Kirsten rat sarcoma viral oncogene homolog
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic
ClinVar
PMID:12460918 PMID:15696205 PMID:16247081 PMID:16361624 PMID:16618717 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:21228335 PMID:23406027 PMID:24033266 PMID:25157968 More...
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma
ClinVar
PMID:10712197 PMID:23913538 PMID:25741868 PMID:28492532
NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
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Palb2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma
ClinVar
PMID:25741868 PMID:26283626 PMID:28492532 PMID:28664506 PMID:32546565
NCBI chr 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208
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Ret
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679
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Sdha
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic
ClinVar
PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24781757 PMID:25494863 PMID:25525159 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26467025 PMID:26490314 PMID:26689913 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28819017 PMID:29177515 PMID:29625052 PMID:29872718 PMID:29978154 PMID:29978187 PMID:30068732 PMID:30877234 PMID:31368675 PMID:31589614 PMID:31827275 PMID:32581362 PMID:32782288 PMID:33077847 PMID:33372952 PMID:33674644 PMID:33960148 PMID:35059314 PMID:35441217 More...
NCBI chr13:74,470,374...74,498,359
Ensembl chr13:74,470,373...74,498,399
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Fgfr1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Pilomyxoid astrocytoma
ClinVar
PMID:25705862 PMID:25741868 PMID:26619011 PMID:26942290 PMID:28492532 PMID:33448156 More...
NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
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Ewsr1
Ewing sarcoma breakpoint region 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12162413
NCBI chr11:5,019,687...5,049,314
Ensembl chr11:5,019,689...5,049,266
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Hes1
hes family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr16:29,883,259...29,886,614
Ensembl chr16:29,883,202...29,886,614
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Hey1
hairy/enhancer-of-split related with YRPW motif 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 3:8,728,419...8,732,098
Ensembl chr 3:8,728,419...8,732,316
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Notch2
notch 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 3:97,920,854...98,057,683
Ensembl chr 3:97,920,843...98,057,677
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Pms2
PMS1 homolog2, mismatch repair system component
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15077197
NCBI chr 5:143,846,379...143,922,538
Ensembl chr 5:143,846,782...143,870,786 Ensembl chr 5:143,846,782...143,870,786
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16002382
NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
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Ptch1
patched 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9581815
NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412
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Smo
smoothened, frizzled class receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9581815
NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364
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Tsc1
TSC complex subunit 1
ISO
ClinVar Annotator: match by term: Primitive neuroectodermal tumor
ClinVar
PMID:16554133 PMID:21309039 PMID:22703879 PMID:23514105 PMID:25077650 PMID:25498131 PMID:25722345 PMID:25741868 PMID:26467025 PMID:27153395 PMID:28492532 PMID:30076350 PMID:31054281 More...
NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15618851
NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382
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Cadm2
cell adhesion molecule 2
ISO
mRNA, protein:decreased expression:retina
RGD
PMID:30320366
RGD:15092072
NCBI chr16:66,452,302...67,417,825
Ensembl chr16:66,452,307...67,417,796
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Cdkn2a
cyclin dependent kinase inhibitor 2A
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
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Dicer1
dicer 1, ribonuclease type III
exacerbates
IMP
DNA:deletion:haploinsufficiency
RGD
PMID:20019750
RGD:149735324
NCBI chr12:104,654,001...104,718,331
Ensembl chr12:104,654,001...104,718,211
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Fancm
Fanconi anemia, complementation group M
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25741868
NCBI chr12:65,120,884...65,178,616
Ensembl chr12:65,122,377...65,178,832
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Fas
Fas cell surface death receptor
severity
ISO
protein:decreased expression:tumor (human)
RGD
PMID:14533029
RGD:8662811
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Ifnb1
interferon beta 1, fibroblast
ameliorates
ISO
RGD
PMID:19306089
RGD:401854248
NCBI chr 4:88,440,253...88,441,083
Ensembl chr 4:88,440,262...88,441,011
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Itm2b
integral membrane protein 2B
ISO
ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:8099255 PMID:12541220 PMID:14722923 PMID:15877282 PMID:17096365 PMID:17301081 PMID:22180099 PMID:25741868 PMID:26475597 PMID:28492532 PMID:28575107 PMID:29568217 More...
NCBI chr14:73,599,666...73,622,729
Ensembl chr14:73,599,666...73,622,729
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Kdm1b
lysine (K)-specific demethylase 1B
ISO
mRNA:increased expression:retina (human)
RGD
PMID:16180235
RGD:9588276
NCBI chr13:47,196,849...47,238,085
Ensembl chr13:47,196,975...47,238,755
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Lpar6
lysophosphatidic acid receptor 6
ISO
ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:8099255 PMID:12541220 PMID:15877282 PMID:17096365 PMID:17301081 PMID:21505449 PMID:22909775 PMID:23301675 PMID:25640679 PMID:25741868 PMID:26475597 PMID:28492532 PMID:28575107 PMID:29568217 More...
NCBI chr14:73,475,331...73,477,798
Ensembl chr14:73,475,335...73,480,734
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Max
Max protein
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:76,984,045...77,009,123
Ensembl chr12:76,984,043...77,008,975
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Med4
mediator complex subunit 4
ISO
ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:8099255 PMID:12541220 PMID:14722923 PMID:15877282 PMID:17096365 PMID:17301081 PMID:22180099 PMID:26475597 PMID:28492532 PMID:28575107 PMID:29568217 More...
NCBI chr14:73,747,489...73,755,985
Ensembl chr14:73,747,465...73,756,289
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Mgmt
O-6-methylguanine-DNA methyltransferase
disease_progression
ISO
DNA:hypermethylation:promoter (human)
RGD
PMID:15799820
RGD:2317684
NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
susceptibility
ISO
DNA:SNP::2756A>G(human)
RGD
PMID:20310006
RGD:8694083
NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999
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Mutyh
mutY DNA glycosylase
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25741868 PMID:26467025 PMID:26947005 PMID:28135145 PMID:28492532 PMID:30267214 PMID:33471991 PMID:34326862 More...
NCBI chr 4:116,664,846...116,676,641
Ensembl chr 4:116,664,920...116,676,637
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
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Nudt15
nudix hydrolase 15
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:8099255 PMID:12541220 PMID:14722923 PMID:17096365 PMID:22180099 PMID:28492532 PMID:28575107 PMID:29568217 More...
NCBI chr14:73,756,320...73,785,682
Ensembl chr14:73,756,317...73,785,682
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Palb2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:23555315 PMID:25085752 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28873162 PMID:32832836 PMID:32868316 More...
NCBI chr 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412
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Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma CTD Direct Evidence: marker/mechanism DNA:mutations:exon, intron:multiple
OMIM ClinVar CTD RGD
PMID:1298292 PMID:1352398 PMID:1352883 PMID:1534305 PMID:1577465 PMID:1662795 PMID:1881452 PMID:2181449 PMID:2594029 PMID:2601691 PMID:2673542 PMID:2748600 PMID:7704558 PMID:7795591 PMID:7881418 PMID:7927327 PMID:7981694 PMID:8049153 PMID:8099255 PMID:8118465 PMID:8217609 PMID:8346255 PMID:8364580 PMID:8605116 PMID:8651278 PMID:8756645 PMID:8776589 PMID:9311732 PMID:9341870 PMID:9400934 PMID:9495340 PMID:9536098 PMID:9632788 PMID:9639842 PMID:9671401 PMID:9973307 PMID:10023315 PMID:10486322 PMID:10617920 PMID:10671068 PMID:10673998 PMID:10882758 PMID:10966849 PMID:10991691 PMID:11189328 PMID:11317357 PMID:11317369 PMID:11333669 PMID:11480772 PMID:11668642 PMID:12016586 PMID:12173465 PMID:12402348 PMID:12502741 PMID:12541220 PMID:12955724 PMID:14516425 PMID:14722923 PMID:14769601 PMID:15166261 PMID:15591264 PMID:15605413 PMID:15643604 PMID:15776430 PMID:15877282 PMID:15884040 PMID:16127685 PMID:16199547 PMID:16269091 PMID:16343894 PMID:16449662 PMID:16463005 PMID:16595082 PMID:16988938 PMID:17096365 PMID:17299438 PMID:17301081 PMID:17576681 PMID:17960112 PMID:17996702 PMID:18000883 PMID:18181215 PMID:18449911 PMID:18503160 PMID:18677112 PMID:18682685 PMID:19280657 PMID:19339519 PMID:19390654 PMID:19491728 PMID:19763152 PMID:20041224 PMID:20059380 PMID:20090211 PMID:20307669 PMID:20447117 PMID:20594292 PMID:20596833 PMID:20808897 PMID:21402997 PMID:21505449 PMID:21520333 PMID:21538077 PMID:21615945 PMID:21654082 PMID:21763628 PMID:22084214 PMID:22180099 PMID:22205104 PMID:22219649 PMID:22328814 PMID:22406018 PMID:22703879 PMID:22744425 PMID:22909775 PMID:22963398 PMID:23301675 PMID:23474753 PMID:23532519 PMID:23595191 PMID:23820649 PMID:23981928 PMID:24033266 PMID:24078560 PMID:24082139 PMID:24225018 PMID:24282159 PMID:24336570 PMID:24347427 PMID:24448499 PMID:24509483 PMID:24688104 PMID:24728327 PMID:24791139 PMID:24810223 PMID:24888624 PMID:25157968 PMID:25424699 PMID:25525159 PMID:25602518 PMID:25640679 PMID:25712084 PMID:25741868 PMID:25754945 PMID:25758528 PMID:25928201 PMID:25999316 PMID:26084579 PMID:26332594 PMID:26396485 PMID:26475597 PMID:26530098 PMID:26539030 PMID:26580448 PMID:26747767 PMID:26764160 PMID:26787237 PMID:26925970 PMID:26934580 PMID:27021801 PMID:27153395 PMID:27155049 PMID:27283993 PMID:27582626 PMID:27854218 PMID:27879208 PMID:27906792 PMID:27983729 PMID:28193182 PMID:28301456 PMID:28401291 PMID:28492532 PMID:28575107 PMID:28580595 PMID:28606269 PMID:28724667 PMID:28803391 PMID:28873162 PMID:28875981 PMID:29192238 PMID:29261756 PMID:29316426 PMID:29453956 PMID:29568217 PMID:29607586 PMID:29625052 PMID:29641532 PMID:29662154 PMID:29684080 PMID:30031154 PMID:30181556 PMID:30192042 PMID:30636860 PMID:30773851 PMID:30842500 PMID:31106028 PMID:31158355 PMID:31568710 PMID:31645765 PMID:31772335 PMID:32091409 PMID:32218800 PMID:32835838 PMID:32974172 PMID:33225895 PMID:33258708 PMID:33456302 PMID:33493472 PMID:33606809 PMID:34190019 PMID:34277001 PMID:34294096 PMID:34308366 PMID:34645364 PMID:34680218 PMID:35534704 PMID:12402348 More...
RGD:8547986
NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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Serpinf1
serine (or cysteine) peptidase inhibitor, clade F, member 1
treatment
ISO
human protein and tumor xenograft in a mouse model
RGD
PMID:19832843
RGD:8554870
NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527
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Sncg
synuclein, gamma
ISO
RGD
PMID:18728752
RGD:6218971
NCBI chr14:34,092,231...34,096,626
Ensembl chr14:34,092,231...34,096,746
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Acta1
actin alpha 1, skeletal muscle
ISO
ClinVar Annotator: match by term: Congenital muscular dystrophy with rigid spine
ClinVar
PMID:25182138 PMID:27854218
NCBI chr 8:124,618,497...124,621,514
Ensembl chr 8:124,618,508...124,621,490
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Ldlrap1
low density lipoprotein receptor adaptor protein 1
ISO
ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy
ClinVar
PMID:21131290 PMID:21670436 PMID:28492532
NCBI chr 4:134,468,865...134,495,342
Ensembl chr 4:134,468,865...134,495,335
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Man1c1
mannosidase, alpha, class 1C, member 1
ISO
ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy
ClinVar
PMID:21131290 PMID:21670436 PMID:28492532
NCBI chr 4:134,289,001...134,432,987
Ensembl chr 4:134,289,001...134,431,601
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Ryr1
ryanodine receptor 1, skeletal muscle
ISO
ClinVar Annotator: match by term: Multi-minicore disease and atypical periodic paralysis | ClinVar Annotator: match by term: Multiminicore/minicore/multicore disease
ClinVar
PMID:17033962 PMID:18414213 PMID:20080402 PMID:20583297 PMID:20839240 PMID:21674524 PMID:21911697 PMID:22473935 PMID:23553787 PMID:23919265 PMID:24033266 PMID:24088041 PMID:24195946 PMID:24950660 PMID:24951453 PMID:25214167 PMID:25476234 PMID:25525159 PMID:25637381 PMID:25658027 PMID:25735680 PMID:25741868 PMID:25958340 PMID:25960145 PMID:26332594 PMID:26633545 PMID:27854218 PMID:28492532 PMID:28818389 PMID:30609409 PMID:30611313 PMID:31680349 PMID:33333461 PMID:34008892 PMID:36628841 More...
NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604
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Selenon
selenoprotein N
ISO IAGP
DNA:frameshift mutations, missense mutations, nonsense mutation:cds:multiple (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar Annotator: match by term: MYOPATHY, SEPN1-RELATED OMIM:602771
CTD ClinVar MouseDO OMIM RGD
PMID:1219264 PMID:7224095 PMID:9536098 PMID:9585610 PMID:11079538 PMID:11528383 PMID:12192640 PMID:12207930 PMID:15122708 PMID:15668457 PMID:15792869 PMID:16199547 PMID:16365872 PMID:16498447 PMID:16779558 PMID:17204937 PMID:17365175 PMID:17576681 PMID:17951086 PMID:18313359 PMID:18414213 PMID:18713863 PMID:19067361 PMID:19285539 PMID:19557870 PMID:19763152 PMID:20301436 PMID:20307669 PMID:20623375 PMID:20937510 PMID:21131290 PMID:21520333 PMID:21670436 PMID:22406018 PMID:23394784 PMID:24033266 PMID:24988964 PMID:25182138 PMID:25525159 PMID:25635128 PMID:25640679 PMID:25741868 PMID:26467025 PMID:27066551 PMID:27447704 PMID:27863379 PMID:28357410 PMID:28492532 PMID:28558865 PMID:28688748 PMID:29172004 PMID:29382405 PMID:29669168 PMID:30612914 PMID:30642275 PMID:30921636 PMID:30932294 PMID:31127727 PMID:31321302 PMID:31847883 PMID:32154989 PMID:32528171 PMID:32746448 PMID:32796131 PMID:32860008 PMID:33184643 PMID:33333461 PMID:33652732 PMID:33762497 PMID:35368679 PMID:11528383 More...
RGD:1599352
NCBI chr 4:134,265,203...134,279,477
Ensembl chr 4:134,265,203...134,279,477
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Clec3b
C-type lectin domain family 3, member b
IAGP
OMIM:181440
MouseDO
NCBI chr 9:122,980,011...122,986,497
Ensembl chr 9:122,980,011...122,986,497
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Nfix
nuclear factor I/X
IAGP
OMIM:181440
MouseDO
NCBI chr 8:85,431,341...85,527,086
Ensembl chr 8:85,426,505...85,526,973
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Smarcal1
SWI/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
ISO IAGP
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia OMIM:242900 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:9536098 PMID:11799392 PMID:12471207 PMID:15523612 PMID:15880370 PMID:15884045 PMID:16199547 PMID:16237566 PMID:16840568 PMID:17089404 PMID:17576681 PMID:18805831 PMID:18974355 PMID:19127206 PMID:19793864 PMID:20179009 PMID:20301550 PMID:21914180 PMID:22998683 PMID:23359635 PMID:23671665 PMID:24197801 PMID:24589093 PMID:25349199 PMID:25640679 PMID:25741868 PMID:25748404 PMID:25943327 PMID:26089390 PMID:26195148 PMID:26499378 PMID:27577878 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28796785 PMID:28844315 PMID:29127259 PMID:29282041 PMID:29802247 PMID:30026777 PMID:30295827 PMID:30586318 PMID:30635151 PMID:30687093 PMID:30784191 PMID:31039288 PMID:31275356 PMID:32393263 PMID:32499645 PMID:32604935 PMID:33203071 PMID:33532864 PMID:11799392 More...
RGD:1599053
NCBI chr 1:72,575,593...72,675,949
Ensembl chr 1:72,622,410...72,672,293
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Aloxe3
arachidonate lipoxygenase 3
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25741868
NCBI chr11:69,016,243...69,039,941
Ensembl chr11:69,016,722...69,039,941
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Chd7
chromodomain helicase DNA binding protein 7
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25741868
NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659
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Chrng
cholinergic receptor, nicotinic, gamma polypeptide
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:15704180 PMID:16826520 PMID:22167768 PMID:25741868 PMID:28492532 PMID:31680349 More...
NCBI chr 1:87,133,533...87,139,365
Ensembl chr 1:87,132,379...87,140,416
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861
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Dll3
delta like canonical Notch ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17849441
NCBI chr 7:27,992,980...28,001,210
Ensembl chr 7:27,992,978...28,001,663
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Elp1
elongator complex protein 1
ISO
RGD
PMID:11097445
RGD:5129159
NCBI chr 4:56,746,547...56,802,565
Ensembl chr 4:56,749,680...56,802,331
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Fbn1
fibrillin 1
ISO
DNA:missense mutations:exon:multiple ClinVar Annotator: match by term: Congenital scoliosis | ClinVar Annotator: match by term: Scoliosis
ClinVar RGD
PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 PMID:12938084 PMID:14695540 PMID:15241795 PMID:17627385 PMID:17657824 PMID:19159394 PMID:19293843 PMID:20301510 PMID:21907952 PMID:24033266 PMID:24161884 PMID:24833718 PMID:25741868 PMID:25907466 PMID:26333736 PMID:26787436 PMID:27146836 PMID:27274304 PMID:27611364 PMID:27724990 PMID:28492532 PMID:28855619 PMID:29357934 PMID:29875124 PMID:30311386 PMID:30675029 PMID:30739908 PMID:31098894 PMID:31211626 PMID:31751304 PMID:31950671 PMID:32679894 PMID:34498425 PMID:24833718 More...
RGD:12910484
NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913
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Fbn2
fibrillin 2
ISO
DNA:frameshift mutation, missense mutations:exon:multiple
RGD
PMID:24833718
RGD:12910484
NCBI chr18:58,141,689...58,343,200
Ensembl chr18:58,141,695...58,343,559
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Fgfr3
fibroblast growth factor receptor 3
IAGP
MouseDO
NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412
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Flna
filamin, alpha
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:73,267,067...73,293,787
Ensembl chr X:73,267,067...73,293,426
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Fxr1
FMR1 autosomal homolog 1
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25741868
NCBI chr 3:34,074,133...34,124,129
Ensembl chr 3:34,074,092...34,124,471
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Gdf3
growth differentiation factor 3
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:19864492 PMID:25741868 PMID:28492532
NCBI chr 6:122,582,362...122,587,046
Ensembl chr 6:122,582,362...122,587,046
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Gfap
glial fibrillary acidic protein
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
NCBI chr11:102,778,162...102,791,368
Ensembl chr11:102,778,162...102,791,738
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Hes7
hes family bHLH transcription factor 7
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25741868
NCBI chr11:69,009,778...69,014,880
Ensembl chr11:69,011,230...69,014,881
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Jag1
jagged 1
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564
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Kif1b
kinesin family member 1B
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25741868
NCBI chr 4:149,260,776...149,392,762
Ensembl chr 4:149,260,776...149,392,150
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Mmp1a
matrix metallopeptidase 1a (interstitial collagenase)
ISO
protein:increased expression:intervertebral disc (rat)
RGD
PMID:21554726
RGD:7207288
NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857
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Mmp1b
matrix metallopeptidase 1b (interstitial collagenase)
ISO
protein:increased expression:intervertebral disc (rat)
RGD
PMID:21554726
RGD:7207288
NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047
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Myf5
myogenic factor 5
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:10844060 PMID:29887215
NCBI chr10:107,318,769...107,322,787
Ensembl chr10:107,318,769...107,321,995
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Notch1
notch 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17849441
NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675
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Poc5
POC5 centriolar protein
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25642776 PMID:25741868 PMID:28492532
NCBI chr13:96,524,767...96,553,719
Ensembl chr13:96,524,802...96,554,245
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:11992261 PMID:15121796 PMID:17339163 PMID:17875892 PMID:18241070 PMID:20301557 PMID:21533187 PMID:24033266 PMID:24935154 PMID:25741868 PMID:28492532 More...
NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
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Rab5if
RAB5 interacting factor
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:24194475 PMID:35614220
NCBI chr 2:156,705,042...156,715,483
Ensembl chr 2:156,705,048...156,715,483
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Ryr1
ryanodine receptor 1, skeletal muscle
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:17483490 PMID:18253926 PMID:19191329 PMID:19645060 PMID:21062345 PMID:22473935 PMID:23069638 PMID:23394784 PMID:23553787 PMID:23919265 PMID:24033266 PMID:24091937 PMID:25741868 PMID:27447704 PMID:28492532 PMID:30236257 PMID:32899693 PMID:34106991 More...
NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604
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Sh3tc2
SH3 domain and tetratricopeptide repeats 2
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:20220177 PMID:20301641 PMID:21291453 PMID:22950825 PMID:23806086 PMID:25741868 PMID:26392352 PMID:26467025 PMID:26794302 PMID:28492532 More...
NCBI chr18:62,086,002...62,148,790
Ensembl chr18:62,086,146...62,157,473
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Tbx6
T-box 6
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25564734 PMID:25741868 PMID:28054739 PMID:28492532 PMID:31015262 PMID:31471994 More...
NCBI chr 7:126,380,655...126,384,720
Ensembl chr 7:126,380,655...126,384,732
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Tmco1
transmembrane and coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227
NCBI chr 1:167,136,239...167,161,547
Ensembl chr 1:167,135,947...167,161,547
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Tph1
tryptophan hydroxylase 1
no_association
ISO
DNA:SNP:promoter: (rs10488682) (human) DNA:SNPs:multiple
RGD
PMID:18794762 PMID:21308753 PMID:21192222
RGD:5686347 , RGD:5686349 , RGD:5686348
NCBI chr 7:46,294,065...46,321,961
Ensembl chr 7:46,294,065...46,321,961
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Ext2
exostosin glycosyltransferase 2
ISO
ClinVar Annotator: match by term: Seizures, scoliosis, and macrocephaly syndrome
OMIM ClinVar
PMID:9326317 PMID:10679937 PMID:10713884 PMID:10750558 PMID:11432960 PMID:16199547 PMID:16283885 PMID:17041877 PMID:19344451 PMID:19810120 PMID:23439489 PMID:24728327 PMID:25741868 PMID:28492532 PMID:30075207 PMID:30288735 PMID:30997052 PMID:34092239 More...
NCBI chr 2:93,525,978...93,652,913
Ensembl chr 2:93,491,373...93,652,913
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Slc10a7
solute carrier family 10 (sodium/bile acid cotransporter family), member 7
ISO
ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
OMIM ClinVar
PMID:25741868 PMID:29878199 PMID:30082715
NCBI chr 8:79,235,957...79,460,641
Ensembl chr 8:79,235,975...79,460,632
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Dym
dymeclin
IAGP ISO
OMIM:607326 | OMIM:615222 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Smith-McCort dysplasia
MouseDO CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:75,151,772...75,420,037
Ensembl chr18:75,151,852...75,420,035
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Rab33b
RAB33B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Smith-McCort dysplasia
ClinVar
NCBI chr 3:51,391,387...51,403,649
Ensembl chr 3:51,391,341...51,403,653
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Dym
dymeclin
ISO
ClinVar Annotator: match by term: DYM-related condition | ClinVar Annotator: match by term: Smith-McCort dysplasia 1
ClinVar OMIM
PMID:12491225 PMID:16097008 PMID:18996921 PMID:19005420 PMID:25741868 PMID:28492532 More...
NCBI chr18:75,151,772...75,420,037
Ensembl chr18:75,151,852...75,420,035
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Rab33b
RAB33B, member RAS oncogene family
ISO IAGP
OMIM:615222 ClinVar Annotator: match by term: Smith-McCort dysplasia 2
OMIM MouseDO ClinVar
PMID:16470731 PMID:22652534 PMID:23042644 PMID:25741868 PMID:28127940 PMID:28492532 More...
NCBI chr 3:51,391,387...51,403,649
Ensembl chr 3:51,391,341...51,403,653
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Ift122
intraflagellar transport 122
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20493458
NCBI chr 6:115,830,340...115,903,660
Ensembl chr 6:115,830,431...115,903,660
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H2-Aa
histocompatibility 2, class II antigen A, alpha
susceptibility
ISO
DNA:missense mutation:CDS:c.592C>G (p.Q198E) (human)
RGD
PMID:29795056
RGD:126928140
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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Cxcl15
C-X-C motif chemokine ligand 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34697729
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Dusp1
dual specificity phosphatase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34697729
NCBI chr17:26,724,565...26,727,446
Ensembl chr17:26,724,564...26,781,102
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34697729
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Lrp5
low density lipoprotein receptor-related protein 5
susceptibility
ISO
DNA:polymorphism:cds:p.Q89R(human)
RGD
PMID:17202888
RGD:12792278
NCBI chr19:3,634,825...3,736,574
Ensembl chr19:3,634,828...3,736,564
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Mir337
microRNA 337
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34697729
NCBI chr12:109,552,223...109,552,319
Ensembl chr12:109,552,223...109,552,319
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Skp2
S-phase kinase-associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34697729
NCBI chr15:9,112,070...9,155,512
Ensembl chr15:9,112,073...9,155,512
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34697729
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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B2m
beta-2 microglobulin
ISO
RGD
PMID:16575857
RGD:6482692
NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564
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H2-M2
histocompatibility 2, M region locus 2
susceptibility
ISO
DNA:polymorphism:cds:HLA-B*2714, B*2705 (human)
RGD
PMID:12889998
RGD:10755578
NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
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Il17a
interleukin 17A
ISO
protein:increased expression:serum (rat)
RGD
PMID:21905004
RGD:9068946
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Psmb9
proteasome (prosome, macropain) subunit, beta type 9 (large multifunctional peptidase 2)
no_association
ISO
RGD
PMID:15603870 PMID:9496154
RGD:6483462 , RGD:6483495
NCBI chr17:34,401,006...34,406,347
Ensembl chr17:34,400,961...34,406,738
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Runx2
runt related transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr17:44,806,873...45,125,518
Ensembl chr17:44,806,874...45,125,684
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Flnb
filamin, beta
ISO IAGP IMP
ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome OMIM:272460 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:14991055 PMID:18257094 PMID:18322662 PMID:18386804 PMID:20301736 PMID:25741868 PMID:26380986 PMID:28492532 PMID:29566257 PMID:17635842 More...
RGD:12791028
NCBI chr14:14,518,185...14,651,852
Ensembl chr14:14,518,185...14,651,816
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Myh3
myosin, heavy polypeptide 3, skeletal muscle, embryonic
ISO
ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29805041 PMID:32902138 PMID:33726816 PMID:34204301 PMID:34440395 PMID:35169139 More...
NCBI chr11:66,969,101...66,993,117
Ensembl chr11:66,969,126...66,993,112
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Dll3
delta like canonical Notch ligand 3
IAGP ISO
OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686 ClinVar Annotator: match by term: Spondylocostal dysostosis
MouseDO ClinVar
NCBI chr 7:27,992,980...28,001,210
Ensembl chr 7:27,992,978...28,001,663
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Hes7
hes family bHLH transcription factor 7
IAGP
MouseDO
NCBI chr11:69,009,778...69,014,880
Ensembl chr11:69,011,230...69,014,881
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Mesp2
mesoderm posterior 2
ISO
ClinVar Annotator: match by term: Spondylocostal dysostosis
ClinVar
PMID:25741868
NCBI chr 7:79,460,475...79,463,179
Ensembl chr 7:79,460,475...79,463,187
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Ripply2
ripply transcriptional repressor 2
IAGP
OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686
MouseDO
NCBI chr 9:86,897,590...86,902,494
Ensembl chr 9:86,897,590...86,901,970
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Tbx6
T-box 6
ISO
ClinVar Annotator: match by term: Costovertebral segmentation anomalies
ClinVar
PMID:25564734 PMID:25741868 PMID:28492532 PMID:30636772 PMID:31015262 PMID:31471994 More...
NCBI chr 7:126,380,655...126,384,720
Ensembl chr 7:126,380,655...126,384,732
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Dll3
delta like canonical Notch ligand 3
ISO
ClinVar Annotator: match by term: DLL3-related condition | ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive
OMIM ClinVar
PMID:2805381 PMID:10742114 PMID:12746394 PMID:12791036 PMID:15200511 PMID:15717203 PMID:17041936 PMID:18485326 PMID:25741868 PMID:28492532 PMID:29459493 More...
NCBI chr 7:27,992,980...28,001,210
Ensembl chr 7:27,992,978...28,001,663
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Plekhg2
pleckstrin homology domain containing, family G (with RhoGef domain) member 2
ISO
ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:28,059,028...28,072,818
Ensembl chr 7:28,059,029...28,072,024
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Ripply2
ripply transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Spondylothoracic Dysostosis
ClinVar
PMID:25343988 PMID:25741868 PMID:28492532
NCBI chr 9:86,897,590...86,902,494
Ensembl chr 9:86,897,590...86,901,970
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Hes7
hes family bHLH transcription factor 7
ISO
ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive
ClinVar
PMID:18775957
NCBI chr11:69,009,778...69,014,880
Ensembl chr11:69,011,230...69,014,881
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Lfng
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
ISO
ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive
ClinVar
PMID:16385447
NCBI chr 5:140,593,096...140,601,300
Ensembl chr 5:140,593,075...140,601,300
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Mesp2
mesoderm posterior 2
ISO
ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive
OMIM ClinVar
PMID:9242490 PMID:15122512 PMID:18485326 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 7:79,460,475...79,463,179
Ensembl chr 7:79,460,475...79,463,187
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Ripply2
ripply transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive
ClinVar
PMID:25343988 PMID:25741868 PMID:28492532
NCBI chr 9:86,897,590...86,902,494
Ensembl chr 9:86,897,590...86,901,970
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Tbx6
T-box 6
ISO
ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive
ClinVar
PMID:20503311 PMID:23335591
NCBI chr 7:126,380,655...126,384,720
Ensembl chr 7:126,380,655...126,384,732
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Brat1
BRCA1-associated ATM activator 1
ISO
ClinVar Annotator: match by term: Spondylocostal dysostosis 3, autosomal recessive
ClinVar
PMID:28492532
NCBI chr 5:140,688,222...140,705,134
Ensembl chr 5:140,690,766...140,705,134
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Lfng
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
ISO
ClinVar Annotator: match by term: Spondylocostal dysostosis 3, autosomal recessive
OMIM ClinVar
PMID:9536098 PMID:16385447 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29459493 PMID:30531807 More...
NCBI chr 5:140,593,096...140,601,300
Ensembl chr 5:140,593,075...140,601,300
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Hes7
hes family bHLH transcription factor 7
ISO
ClinVar Annotator: match by term: Spondylocostal dysostosis 4, autosomal recessive
OMIM ClinVar
PMID:18775957 PMID:20087400 PMID:23897666 PMID:25741868 PMID:28492532
NCBI chr11:69,009,778...69,014,880
Ensembl chr11:69,011,230...69,014,881
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4930451I11Rik
RIKEN cDNA 4930451I11 gene
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
ClinVar
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868
NCBI chr 7:126,429,640...126,430,712
Ensembl chr 7:126,429,640...126,430,811
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AI467606
expressed sequence AI467606
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
ClinVar
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868
NCBI chr 7:126,689,952...126,693,221
Ensembl chr 7:126,690,531...126,693,158
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Aldoa
aldolase A, fructose-bisphosphate
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES
ClinVar
PMID:25741868
NCBI chr 7:126,394,406...126,399,537
Ensembl chr 7:126,394,406...126,399,923
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Asphd1
aspartate beta-hydroxylase domain containing 1
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
ClinVar
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868
NCBI chr 7:126,545,159...126,548,754
Ensembl chr 7:126,544,739...126,548,754
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Cdipt
CDP-diacylglycerol--inositol 3-phosphatidyltransferase
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
ClinVar
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868
NCBI chr 7:126,575,630...126,579,671
Ensembl chr 7:126,575,086...126,579,673
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Cdiptos
CDIP transferase, opposite strand
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES
ClinVar
PMID:25741868
NCBI chr 7:126,571,792...126,575,575
Ensembl chr 7:126,570,894...126,575,270
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Coro1a
coronin, actin binding protein 1A
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
ClinVar
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868
NCBI chr 7:126,298,946...126,303,925
Ensembl chr 7:126,298,945...126,306,959
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Doc2a
double C2, alpha
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
ClinVar
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868
NCBI chr 7:126,446,525...126,451,877
Ensembl chr 7:126,446,588...126,451,877
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Gdpd3
glycerophosphodiester phosphodiesterase domain containing 3
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
ClinVar
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868
NCBI chr 7:126,365,586...126,374,817
Ensembl chr 7:126,365,506...126,374,821
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Hirip3
HIRA interacting protein 3
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
ClinVar
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868
NCBI chr 7:126,461,155...126,464,549
Ensembl chr 7:126,461,144...126,464,549
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Ino80e
INO80 complex subunit E
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
ClinVar
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868
NCBI chr 7:126,450,756...126,461,544
Ensembl chr 7:126,450,132...126,461,549
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Kctd13
potassium channel tetramerisation domain containing 13
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
ClinVar
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868
NCBI chr 7:126,528,051...126,544,781
Ensembl chr 7:126,528,051...126,544,803
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Kif22
kinesin family member 22
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
ClinVar
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868
NCBI chr 7:126,626,901...126,641,639
Ensembl chr 7:126,626,901...126,641,643
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Mapk3
mitogen-activated protein kinase 3
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
ClinVar
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868
NCBI chr 7:126,358,798...126,364,988
Ensembl chr 7:126,358,773...126,364,991
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Maz
MYC-associated zinc finger protein (purine-binding transcription factor)
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
ClinVar
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868
NCBI chr 7:126,621,306...126,626,177
Ensembl chr 7:126,621,302...126,626,209
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Mvp
major vault protein
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
ClinVar
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868
NCBI chr 7:126,586,036...126,613,729
Ensembl chr 7:126,586,032...126,613,793
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Pagr1a
PAXIP1 associated glutamate rich protein 1A
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
ClinVar
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868
NCBI chr 7:126,614,223...126,616,524
Ensembl chr 7:126,614,205...126,616,524 Ensembl chr 7:126,614,205...126,616,524
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Ppp4c
protein phosphatase 4, catalytic subunit
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
ClinVar
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868
NCBI chr 7:126,385,038...126,391,729
Ensembl chr 7:126,385,038...126,391,668
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Prrt2
proline-rich transmembrane protein 2
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
ClinVar
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868
NCBI chr 7:126,616,707...126,620,800
Ensembl chr 7:126,616,703...126,620,383
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Qprt
quinolinate phosphoribosyltransferase
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
ClinVar
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868
NCBI chr 7:126,706,942...126,721,201
Ensembl chr 7:126,706,286...126,721,398
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Ripply2
ripply transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Spondylothoracic Dysostosis
ClinVar
PMID:25343988 PMID:25741868 PMID:28492532
NCBI chr 9:86,897,590...86,902,494
Ensembl chr 9:86,897,590...86,901,970
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Sez6l2
seizure related 6 homolog like 2
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
ClinVar
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868
NCBI chr 7:126,549,665...126,569,782
Ensembl chr 7:126,549,735...126,569,778
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Spn
sialophorin
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
ClinVar
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868
NCBI chr 7:126,731,404...126,743,785
Ensembl chr 7:126,731,404...126,736,995
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Taok2
TAO kinase 2
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
ClinVar
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868
NCBI chr 7:126,464,848...126,485,468
Ensembl chr 7:126,464,850...126,483,875
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Tbx6
T-box 6
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:20503311 PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 PMID:27861764 PMID:28054739 PMID:28492532 PMID:28990171 PMID:30636772 PMID:31015262 PMID:31471994 PMID:35846898 PMID:36161696 More...
NCBI chr 7:126,380,655...126,384,720
Ensembl chr 7:126,380,655...126,384,732
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Tlcd3b
TLC domain containing 3B
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
ClinVar
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868
NCBI chr 7:126,413,213...126,429,391
Ensembl chr 7:126,396,840...126,429,391
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Tmem219
transmembrane protein 219
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
ClinVar
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868
NCBI chr 7:126,485,391...126,527,993
Ensembl chr 7:126,485,343...126,522,089
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Ypel3
yippee like 3
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
ClinVar
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868
NCBI chr 7:126,376,135...126,379,682
Ensembl chr 7:126,376,127...126,379,686
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Zg16
zymogen granule protein 16
ISO
ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
ClinVar
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868
NCBI chr 7:126,649,328...126,651,847
Ensembl chr 7:126,649,328...126,686,500
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Ripply2
ripply transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Spondylocostal dysostosis 6, autosomal recessive
OMIM ClinVar
PMID:25343988 PMID:25741868 PMID:28492532
NCBI chr 9:86,897,590...86,902,494
Ensembl chr 9:86,897,590...86,901,970
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Dll3
delta like canonical Notch ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:27,992,980...28,001,210
Ensembl chr 7:27,992,978...28,001,663
G
Hes7
hes family bHLH transcription factor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr11:69,009,778...69,014,880
Ensembl chr11:69,011,230...69,014,881
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Lfng
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 5:140,593,096...140,601,300
Ensembl chr 5:140,593,075...140,601,300
G
Mesp2
mesoderm posterior 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:79,460,475...79,463,179
Ensembl chr 7:79,460,475...79,463,187
G
Ripply2
ripply transcriptional repressor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:86,897,590...86,902,494
Ensembl chr 9:86,897,590...86,901,970
G
Col2a1
collagen, type II, alpha 1
IAGP
MouseDO
NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576
G
Ddr2
discoidin domain receptor family, member 2
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia
ClinVar
NCBI chr 1:169,799,874...169,938,525
Ensembl chr 1:169,799,876...169,938,331
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Mmp13
matrix metallopeptidase 13
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia
ClinVar
NCBI chr 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331
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Rpl13
ribosomal protein L13
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia
ClinVar
PMID:23956136 PMID:25741868 PMID:31630789
NCBI chr 8:123,829,089...123,831,983
Ensembl chr 8:123,829,089...123,831,983
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B3galt6
UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 6
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:156,073,923...156,077,135
Ensembl chr 4:156,073,923...156,077,106
G
Polr1c
polymerase (RNA) I polypeptide C
ISO
ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations
ClinVar
PMID:35325049
NCBI chr17:46,554,846...46,558,971
Ensembl chr17:46,554,846...46,558,980
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Slc35b2
solute carrier family 35, member B2
ISO
ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations
ClinVar
PMID:35325049
NCBI chr17:45,874,844...45,878,597
Ensembl chr17:45,874,800...45,878,597
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B3galt6
UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 6
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:23664117 PMID:23664118 PMID:24766538 PMID:25741868 PMID:27023906 PMID:28492532 PMID:29443383 PMID:29620724 PMID:32761602 PMID:33631843 PMID:34529350 PMID:35726512 More...
NCBI chr 4:156,073,923...156,077,135
Ensembl chr 4:156,073,923...156,077,106
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Sdf4
stromal cell derived factor 4
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
ClinVar
PMID:28492532
NCBI chr 4:156,077,300...156,098,067
Ensembl chr 4:156,077,329...156,098,067
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Tnfrsf4
tumor necrosis factor receptor superfamily, member 4
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
ClinVar
PMID:28492532
NCBI chr 4:156,098,049...156,101,070
Ensembl chr 4:156,098,300...156,101,069
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Kif22
kinesin family member 22
ISO
ClinVar Annotator: match by term: KIF22-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with multiple dislocations
OMIM ClinVar
PMID:12727876 PMID:19277648 PMID:22152677 PMID:22152678 PMID:25256152 PMID:25741868 PMID:28492532 PMID:32860008 More...
NCBI chr 7:126,626,901...126,641,639
Ensembl chr 7:126,626,901...126,641,643
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Exoc6b
exocyst complex component 6B
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 3
OMIM ClinVar
PMID:25741868 PMID:26669664 PMID:30284759
NCBI chr 6:84,595,468...85,046,524
Ensembl chr 6:84,595,469...85,046,495
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Matn3
matrilin 3
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Matrilin-3 related | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, MATN3-related CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:14729835 PMID:15121775 PMID:15459972 PMID:20301302 PMID:21965141 PMID:25741868 PMID:28492532 PMID:31724101 More...
NCBI chr12:8,997,929...9,022,028
Ensembl chr12:8,997,929...9,022,028
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Cfap96
cilia and flagella associated protein 96
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, di rocco type
ClinVar
PMID:25741868
NCBI chr 8:46,387,980...46,428,290
Ensembl chr 8:46,406,643...46,428,477
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Ufsp2
UFM1-specific peptidase 2
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, di rocco type
OMIM ClinVar
PMID:21228277 PMID:25741868 PMID:28892125 PMID:32755715
NCBI chr 8:46,428,551...46,449,995
Ensembl chr 8:46,428,565...46,449,995
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Rspry1
ring finger and SPRY domain containing 1
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type
OMIM ClinVar
PMID:25741868 PMID:26365341
NCBI chr 8:95,328,569...95,386,905
Ensembl chr 8:95,328,565...95,386,903
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Nans
N-acetylneuraminic acid synthase (sialic acid synthase)
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type
OMIM CTD ClinVar
PMID:15726110 PMID:25741868 PMID:27213289 PMID:28492532 PMID:34163424
NCBI chr 4:46,489,319...46,503,439
Ensembl chr 4:46,489,248...46,503,632
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Trim14
tripartite motif-containing 14
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type
ClinVar
PMID:15726110 PMID:25741868 PMID:27213289 PMID:28492532 PMID:34163424
NCBI chr 4:46,505,072...46,536,148
Ensembl chr 4:46,493,781...46,536,141
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Eri1
exoribonuclease 1
ISO
ClinVar Annotator: match by term: ERI1-associated disorder
OMIM ClinVar
PMID:37352860
NCBI chr 8:35,932,419...35,962,687
Ensembl chr 8:35,932,407...35,963,350
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Rpl13
ribosomal protein L13
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
OMIM ClinVar
PMID:23956136 PMID:25741868 PMID:28492532 PMID:31630789
NCBI chr 8:123,829,089...123,831,983
Ensembl chr 8:123,829,089...123,831,983
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Sik3
SIK family kinase 3
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Krakow type
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30232230
NCBI chr 9:45,924,099...46,135,492
Ensembl chr 9:45,924,118...46,135,492
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Mmp13
matrix metallopeptidase 13
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MMP13-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Missouri type
OMIM CTD ClinVar
PMID:8412645 PMID:16167086 PMID:25741868 PMID:28492532 PMID:30439533
NCBI chr 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331
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Papss2
3'-phosphoadenosine 5'-phosphosulfate synthase 2
ISO IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, pakistani type OMIM:612847
OMIM CTD ClinVar MouseDO
PMID:9536098 PMID:9714015 PMID:9771708 PMID:16199547 PMID:17576681 PMID:19474428 PMID:22791835 PMID:23633440 PMID:23824674 PMID:24033266 PMID:25326635 PMID:25594860 PMID:25741868 PMID:28492532 PMID:31313512 More...
NCBI chr19:32,573,072...32,644,587
Ensembl chr19:32,573,190...32,644,587
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Ddrgk1
DDRGK domain containing 1
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Shohat type
OMIM ClinVar
PMID:8357004 PMID:25741868 PMID:28263186 PMID:28492532
NCBI chr 2:130,495,955...130,506,549
Ensembl chr 2:130,495,880...130,506,579
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Tonsl
tonsoku-like, DNA repair protein
ISO
ClinVar Annotator: match by term: Sponastrime dysplasia | ClinVar Annotator: match by term: TONSL-related condition
OMIM ClinVar
PMID:9536098 PMID:10797420 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30773277 PMID:30773278 More...
NCBI chr15:76,510,437...76,524,129
Ensembl chr15:76,510,202...76,524,158
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Col2a1
collagen, type II, alpha 1
ISO
ClinVar Annotator: match by term: SMED Strudwick type | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Strudwick type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1905723 PMID:7550321 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8423604 PMID:8486375 PMID:8702139 PMID:8723096 PMID:8893763 PMID:9016532 PMID:15895462 PMID:16088915 PMID:17078022 PMID:17347327 PMID:17509551 PMID:18272325 PMID:18276201 PMID:19344236 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26377240 PMID:26467025 PMID:26626311 PMID:28492532 PMID:30138938 PMID:30792901 PMID:33249554 PMID:34008892 PMID:34394176 More...
NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576
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Fn1
fibronectin 1
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Strudwick type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia
ClinVar
PMID:1677003 PMID:15666313 PMID:25741868 PMID:28492532 PMID:29100092 PMID:30599297 PMID:32200603 PMID:33605604 More...
NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
ClinVar Annotator: match by term: Spondylometaphyseal dysplasia
ClinVar
PMID:28492532
NCBI chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482
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Slc26a2
solute carrier family 26 (sulfate transporter), member 2
ISO
DNA:mutations:cds:c.2286A>T(p.D673V), c.1922A>G(p.H641R),g.18654T>C(human)
RGD
PMID:26077908
RGD:13208868
NCBI chr18:61,329,926...61,344,668
Ensembl chr18:61,325,991...61,344,684
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Ddr2
discoidin domain receptor family, member 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
OMIM CTD ClinVar
PMID:8434618 PMID:8818447 PMID:19110212 PMID:20223752 PMID:25741868 PMID:28492532 PMID:29904280 PMID:32381727 More...
NCBI chr 1:169,799,874...169,938,525
Ensembl chr 1:169,799,876...169,938,331
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Kl
klotho
susceptibility
ISO
RGD
PMID:12110410
RGD:10403053
NCBI chr 5:150,876,072...150,917,282
Ensembl chr 5:150,876,072...150,917,282
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Cacna1a
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
ISO
ClinVar Annotator: match by term: Subependymal giant-cell astrocytoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875
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Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Trilateral retinoblastoma
ClinVar
PMID:7704558 PMID:8346255 PMID:8605116 PMID:9400934 PMID:16463005 PMID:17096365 PMID:21763628 PMID:22963398 PMID:24688104 PMID:25157968 PMID:25602518 PMID:25741868 PMID:28492532 PMID:30031154 PMID:33456302 More...
NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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Zfp407
zinc finger protein 407
ISO
ClinVar Annotator: match by term: Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation
ClinVar
PMID:25741868
NCBI chr18:84,225,826...84,612,815
Ensembl chr18:84,146,152...84,607,850
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Gdf11
growth differentiation factor 11
ISO
ClinVar Annotator: match by term: Vertebral hypersegmentation and orofacial anomalies
OMIM ClinVar
PMID:25741868 PMID:31215115
NCBI chr10:128,716,393...128,727,587
Ensembl chr10:128,718,164...128,727,587
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Abcd1
ATP-binding cassette, sub-family D member 1
ISO
ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia
ClinVar
PMID:7825602 PMID:7849723 PMID:8040304 PMID:8651290 PMID:9088111 PMID:9195223 PMID:9553942 PMID:10190819 PMID:12175782 PMID:14767898 PMID:15192815 PMID:15800013 PMID:15811009 PMID:16087056 PMID:17285533 PMID:20195870 PMID:20661612 PMID:21068741 PMID:21700483 PMID:21966424 PMID:23419472 PMID:23566833 PMID:25741868 PMID:26260157 PMID:26454440 PMID:27928321 PMID:28492532 More...
NCBI chr X:72,760,203...72,782,140
Ensembl chr X:72,760,203...72,782,140
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Bgn
biglycan
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia
OMIM CTD ClinVar
PMID:8064814 PMID:25741868 PMID:27236923 PMID:28492532
NCBI chr X:72,527,207...72,539,542
Ensembl chr X:72,527,208...72,539,539
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Aifm1
apoptosis-inducing factor, mitochondrion-associated 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy
OMIM CTD ClinVar
PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 PMID:28492532 PMID:28842795 More...
NCBI chr X:47,563,821...47,602,440
Ensembl chr X:47,563,821...47,602,440
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Rab33a
RAB33A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy
ClinVar
PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 PMID:28492532 PMID:28842795 More...
NCBI chr X:47,602,540...47,619,112
Ensembl chr X:47,608,162...47,619,109
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Ofd1
OFD1, centriole and centriolar satellite protein
ISO
ClinVar Annotator: match by term: SED TARDA, X-LINKED | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda, X-linked
ClinVar
PMID:9536098 PMID:11326333 PMID:11349230 PMID:15221797 PMID:17576681 PMID:22563562 PMID:25741868 PMID:26252088 PMID:28492532 More...
NCBI chr X:165,171,503...165,223,704
Ensembl chr X:165,173,029...165,223,700
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Trappc2
trafficking protein particle complex 2
ISO
ClinVar Annotator: match by term: SED TARDA, X-LINKED | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda, X-linked
OMIM ClinVar
PMID:9536098 PMID:11326333 PMID:11349230 PMID:15221797 PMID:17576681 PMID:22563562 PMID:25741868 PMID:26252088 PMID:28492532 More...
NCBI chr X:165,223,747...165,236,136
Ensembl chr X:165,223,570...165,236,136
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