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: Lymphatic Abnormalities
Accession: DOID:9002213
browse the term
Definition: Congenital or acquired structural abnormalities of the lymphatic system (LYMPHOID TISSUE) including the lymph vessels.
Synonyms: exact_synonym: Lymphatic Abnormality
primary_id: MESH:D044148 ; RDO:0006037
For additional species annotation, visit the
Alliance of Genome Resources .
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Gja1
gap junction protein, alpha 1
ISO
RGD
PMID:27899284
RGD:13592598
NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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Hoxa3
homeobox A3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1673020
NCBI chr 4:82,137,802...82,181,836
Ensembl chr 4:82,138,683...82,141,385
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Fgf8
fibroblast growth factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12223415
NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
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Six1
SIX homeobox 1
ISO
RGD
PMID:21364285
RGD:11561941
NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
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Ccdc116
coiled-coil domain containing 116
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:31690835
NCBI chr11:88,092,794...88,100,220
Ensembl chr11:88,095,170...88,098,252
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Mapk1
mitogen activated protein kinase 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:31690835
NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
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Mir130b
microRNA 130b
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:31690835
NCBI chr11:88,129,773...88,129,854
Ensembl chr11:88,129,773...88,129,854
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Ppil2
peptidylprolyl isomerase like 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:31690835
NCBI chr11:88,147,342...88,169,968
Ensembl chr11:88,147,377...88,169,968
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Ppm1f
protein phosphatase, Mg2+/Mn2+ dependent, 1F
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:31690835
NCBI chr11:88,313,709...88,343,726
Ensembl chr11:88,313,709...88,343,627
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Prame
PRAME nuclear receptor transcriptional regulator
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:31690835
NCBI chr X:106,082,984...106,091,256
Ensembl chr X:106,083,203...106,085,878
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Rimbp3
RIMS binding protein 3
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:31690835
NCBI chr11:88,033,213...88,039,002
Ensembl chr11:88,033,180...88,038,518
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Sdf2l1
stromal cell-derived factor 2-like 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:31690835
NCBI chr11:88,122,271...88,124,513
Ensembl chr11:88,122,271...88,124,513
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Tmem191c
transmembrane protein 191C
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:31690835
NCBI chr11:87,975,508...87,982,861
Ensembl chr11:87,975,527...87,977,368
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Top3b
DNA topoisomerase III beta
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:31690835
NCBI chr11:88,346,305...88,374,896
Ensembl chr11:88,346,313...88,374,679
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Ube2l3
ubiquitin-conjugating enzyme E2L 3
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:31690835
NCBI chr11:88,047,186...88,088,477
Ensembl chr11:88,047,832...88,088,476
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Vpreb1
V-set pre-B cell surrogate light chain 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:31690835
NCBI chr11:88,376,256...88,377,133
Ensembl chr11:88,376,256...88,377,133
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Ydjc
YdjC chitooligosaccharide deacetylase homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:31690835
NCBI chr11:88,089,142...88,094,254
Ensembl chr11:88,090,921...88,093,516
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Ypel1
yippee-like 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:31690835
NCBI chr11:88,171,401...88,186,000
Ensembl chr11:88,173,890...88,180,542
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Zfp280b
zinc finger protein 280B
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:31690835
NCBI chr20:13,566,381...13,581,215
Ensembl chr20:13,567,803...13,581,164
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Aifm3
apoptosis inducing factor, mitochondria associated 3
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:87,364,452...87,380,705
Ensembl chr11:87,366,621...87,380,704
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Aldh1a2
aldehyde dehydrogenase 1 family, member A2
ISO ISS
OMIM:188400
MouseDO
PMID:12563036
RGD:734550
NCBI chr 8:77,640,234...77,719,488
Ensembl chr 8:77,640,222...77,719,489
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Arvcf
ARVCF, delta catenin family member
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:25516202 PMID:28492532 PMID:32581362 , PMID:9126485
RGD:1578806
NCBI chr11:86,736,125...86,793,795
Ensembl chr11:86,736,142...86,793,791
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Bcr
BCR activator of RhoGEF and GTPase
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr20:14,421,250...14,546,406
Ensembl chr20:14,421,141...14,545,772
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Ccdc116
coiled-coil domain containing 116
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:88,092,794...88,100,220
Ensembl chr11:88,095,170...88,098,252
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Cdc45
cell division cycle 45
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362
NCBI chr11:86,328,785...86,354,099
Ensembl chr11:86,329,012...86,358,453
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Chrd
chordin
ISS
OMIM:188400
MouseDO
NCBI chr11:83,858,503...83,867,543
Ensembl chr11:83,858,503...83,867,203
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Cldn5
claudin 5
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362
NCBI chr11:86,356,292...86,357,718
Ensembl chr11:86,356,294...86,357,718
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Comt
catechol-O-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DiGeorge sequence
CTD ClinVar
PMID:8886163 PMID:25516202 PMID:28492532 PMID:32581362
NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
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Crkl
CRK like proto-oncogene, adaptor protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DiGeorge sequence
CTD ClinVar
PMID:16399080 PMID:32581362
NCBI chr11:87,338,606...87,356,644
Ensembl chr11:87,778,312...87,815,043
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Dgcr2
DiGeorge syndrome critical region gene 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DiGeorge sequence
CTD ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362
NCBI chr11:87,242,441...87,290,806
Ensembl chr11:87,242,522...87,292,955
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Dgcr6
DiGeorge syndrome critical region gene 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DiGeorge sequence
CTD ClinVar
PMID:32581362
NCBI chr11:87,076,205...87,081,306
Ensembl chr11:87,076,381...87,081,950
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Dgcr8
DGCR8 microprocessor complex subunit
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DiGeorge sequence
CTD ClinVar
PMID:32581362
NCBI chr11:86,852,682...86,885,233
Ensembl chr11:86,852,711...86,885,224
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Dicer1
dicer 1 ribonuclease III
ISS
OMIM:188400
MouseDO
NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183
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Dock1
dedicator of cyto-kinesis 1
ISS
OMIM:188400
MouseDO
NCBI chr 1:206,900,617...207,414,852
Ensembl chr 1:206,900,617...207,414,843
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Dvl1
dishevelled segment polarity protein 1
ISO
RGD
PMID:8644734
RGD:1580898
NCBI chr 5:173,295,948...173,308,014
Ensembl chr 5:173,296,270...173,307,945
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Ess2
ess-2 splicing factor homolog
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DiGeorge sequence
CTD ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362
NCBI chr11:87,224,371...87,234,329
Ensembl chr11:87,224,421...87,233,326
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Fgf8
fibroblast growth factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16399080
NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
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Foxn1
forkhead box N1
ISS
OMIM:188400
MouseDO
NCBI chr10:65,621,142...65,634,666
Ensembl chr10:65,621,257...65,634,666
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Gnaz
G protein subunit alpha z
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr20:14,593,072...14,644,020
Ensembl chr20:14,593,819...14,620,019
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Gnb1l
G protein subunit beta 1 like
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:25516202 PMID:28492532 PMID:32581362
NCBI chr11:86,575,229...86,655,614
Ensembl chr11:86,577,339...86,655,602
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Gp1bb
glycoprotein Ib platelet subunit beta
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362
NCBI chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
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Gsc2
goosecoid homeobox 2
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362
NCBI chr11:87,220,618...87,222,606
Ensembl chr11:87,220,618...87,222,606
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Hic2
HIC ZBTB transcriptional repressor 2
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:87,988,213...88,016,825
Ensembl chr11:87,988,213...88,016,825
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Hira
histone cell cycle regulator
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362
NCBI chr11:86,168,196...86,276,430
Ensembl chr11:86,168,196...86,276,430
G
Hoxa3
homeobox A3
ISS
OMIM:188400
MouseDO
NCBI chr 4:82,137,802...82,181,836
Ensembl chr 4:82,138,683...82,141,385
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Igll1
immunoglobulin lambda-like polypeptide 1
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:88,388,378...88,391,524
Ensembl chr11:88,388,378...88,391,370
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Kat6a
lysine acetyltransferase 6A
ISO ISS
OMIM:188400
MouseDO
PMID:22921202
RGD:9590333
NCBI chr16:73,942,669...74,020,750
Ensembl chr16:73,943,455...74,023,005
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Klhl22
kelch-like family member 22
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:87,646,489...87,718,808
Ensembl chr11:87,677,966...87,718,826
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LOC102548901
protein Bop-like
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:25516202 PMID:28492532 PMID:32581362
NCBI chr12:6,230,524...6,231,398
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LOC498122
similar to CG15908-PA
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362
NCBI chr11:86,299,210...86,303,453
Ensembl chr11:86,299,210...86,303,453
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Lztr1
leucine-zipper-like transcription regulator 1
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:87,381,638...87,397,849
Ensembl chr11:87,381,899...87,397,498
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Mapk1
mitogen activated protein kinase 1
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
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Med15
mediator complex subunit 15
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:87,553,868...87,628,631
Ensembl chr11:87,553,868...87,628,502
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Mical3
microtubule associated monooxygenase, calponin and LIM domain containing 3
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr 4:153,484,876...153,631,986
Ensembl chr 4:153,484,876...153,593,773
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Mir130b
microRNA 130b
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:88,129,773...88,129,854
Ensembl chr11:88,129,773...88,129,854
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Mrpl40
mitochondrial ribosomal protein L40
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362
NCBI chr11:86,276,616...86,282,452
Ensembl chr11:86,276,616...86,282,451
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Ndst1
N-deacetylase and N-sulfotransferase 1
ISS
OMIM:188400
MouseDO
NCBI chr18:55,951,497...56,014,107
Ensembl chr18:55,955,389...55,992,885
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P2rx6
purinergic receptor P2X 6
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:87,434,929...87,445,221
Ensembl chr11:87,435,185...87,445,219
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Pex26
peroxisomal biogenesis factor 26
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
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Pi4ka
phosphatidylinositol 4-kinase alpha
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:87,858,323...87,975,549
Ensembl chr11:87,858,453...87,973,422
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Plxnd1
plexin D1
ISS
OMIM:188400
MouseDO
NCBI chr 4:147,854,309...147,894,170
Ensembl chr 4:147,854,309...147,893,992
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Ppil2
peptidylprolyl isomerase like 2
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:88,147,342...88,169,968
Ensembl chr11:88,147,377...88,169,968
G
Ppm1f
protein phosphatase, Mg2+/Mn2+ dependent, 1F
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:88,313,709...88,343,726
Ensembl chr11:88,313,709...88,343,627
G
Prame
PRAME nuclear receptor transcriptional regulator
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr X:106,082,984...106,091,256
Ensembl chr X:106,083,203...106,085,878
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Prodh1
proline dehydrogenase 1
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362
NCBI chr11:87,058,478...87,075,785
Ensembl chr11:87,058,616...87,075,785
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Rab36
RAB36, member RAS oncogene family
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr20:14,557,485...14,573,939
Ensembl chr20:14,557,740...14,573,519
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Ranbp1
RAN binding protein 1
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:86,890,585...86,898,818
Ensembl chr11:86,890,585...86,898,818
G
Rimbp3
RIMS binding protein 3
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:88,033,213...88,039,002
Ensembl chr11:88,033,180...88,038,518
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Rsph14
radial spoke head 14 homolog
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr20:14,576,983...14,653,236
Ensembl chr20:14,577,166...14,653,038
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Rtn4r
reticulon 4 receptor
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:86,992,665...87,017,091
Ensembl chr11:86,992,399...87,017,115
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Scarf2
scavenger receptor class F, member 2
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:87,722,350...87,733,734
Ensembl chr11:87,722,350...87,733,734
G
Sdf2l1
stromal cell-derived factor 2-like 1
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:88,122,271...88,124,513
Ensembl chr11:88,122,271...88,124,513
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Septin5
septin 5
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362
NCBI chr11:86,516,377...86,522,169
Ensembl chr11:86,512,797...86,522,168
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Serpind1
serpin family D member 1
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:87,913,814...87,924,880
Ensembl chr11:87,913,806...87,924,816
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Slc25a1
solute carrier family 25 member 1
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362
NCBI chr11:87,204,248...87,207,265
Ensembl chr11:87,204,175...87,207,264
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Slc7a4
solute carrier family 7, member 4
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:87,445,585...87,450,008
Ensembl chr11:87,446,382...87,449,940
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Snap29
synaptosome associated protein 29
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:87,827,633...87,858,107
Ensembl chr11:87,827,651...87,858,107
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Tango2
transport and golgi organization 2 homolog
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:86,793,959...86,840,556
Ensembl chr11:86,797,557...86,840,573
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Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: DiGeorge sequence ClinVar Annotator: match by term: Catch22 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11748311 PMID:14585638 PMID:15060116 PMID:15190012 PMID:15355425 PMID:16399080 PMID:17000704 PMID:18375573 PMID:19948535 PMID:21921585 PMID:24826987 PMID:24998776 PMID:25205790 PMID:25516202 PMID:25741868 PMID:26467025 PMID:27879657 PMID:28272434 PMID:28492532 PMID:30007050 PMID:32581362
NCBI chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969
G
Tgfbr2
transforming growth factor, beta receptor 2
ISS
OMIM:188400
MouseDO
NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
G
Thap7
THAP domain containing 7
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:87,399,430...87,403,381
Ensembl chr11:87,399,483...87,403,367
G
Tmem191c
transmembrane protein 191C
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:87,975,508...87,982,861
Ensembl chr11:87,975,527...87,977,368
G
Top3b
DNA topoisomerase III beta
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:88,346,305...88,374,896
Ensembl chr11:88,346,313...88,374,679
G
Trmt2a
tRNA methyltransferase 2 homolog A
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:86,885,671...86,890,482
Ensembl chr11:86,885,626...86,890,390
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Tssk2
testis-specific serine kinase 2
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362
NCBI chr11:87,235,058...87,236,413
Ensembl chr11:87,221,613...87,236,445
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Tuba8
tubulin, alpha 8
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr 4:153,774,511...153,791,223
Ensembl chr 4:153,774,486...153,791,328
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Txnrd2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:25516202 PMID:28492532 PMID:32581362
NCBI chr11:86,667,994...86,716,063
Ensembl chr11:86,667,997...86,716,254
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Ube2l3
ubiquitin-conjugating enzyme E2L 3
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:88,047,186...88,088,477
Ensembl chr11:88,047,832...88,088,476
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Ufd1
ubiquitin recognition factor in ER associated degradation 1
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 , PMID:10024240
RGD:1580803
NCBI chr11:86,304,836...86,328,478
Ensembl chr11:86,304,815...86,328,469
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Usp18
ubiquitin specific peptidase 18
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr 4:153,812,312...153,834,374
Ensembl chr 4:153,805,993...153,834,430
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Vegfa
vascular endothelial growth factor A
ISS
OMIM:188400
MouseDO
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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Vpreb1
V-set pre-B cell surrogate light chain 1
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:88,376,256...88,377,133
Ensembl chr11:88,376,256...88,377,133
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Ydjc
YdjC chitooligosaccharide deacetylase homolog
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:88,089,142...88,094,254
Ensembl chr11:88,090,921...88,093,516
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Ypel1
yippee-like 1
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:88,171,401...88,186,000
Ensembl chr11:88,173,890...88,180,542
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Zdhhc8
zinc finger DHHC-type palmitoyltransferase 8
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr11:86,903,122...86,917,261
Ensembl chr11:86,903,122...86,915,715
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Zfp280b
zinc finger protein 280B
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr20:13,566,381...13,581,215
Ensembl chr20:13,567,803...13,581,164
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Zfp366
zinc finger protein 366
ISS
OMIM:188400
MouseDO
NCBI chr 2:29,410,169...29,498,661
Ensembl chr 2:29,410,579...29,498,664
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Zim1
zinc finger, imprinted 1
ISO
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar
PMID:32581362
NCBI chr 1:70,244,828...70,268,289
Ensembl chr 1:70,253,650...70,266,809
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Ccbe1
collagen and calcium binding EGF domains 1
ISO
ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1
OMIM ClinVar
PMID:19911200 PMID:19935664 PMID:24033266 PMID:25741868 PMID:27323140 PMID:28492532
NCBI chr18:61,758,754...62,013,194
Ensembl chr18:61,759,289...61,788,863
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Fat4
FAT atypical cadherin 4
ISO
ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1
ClinVar
PMID:25741868
NCBI chr 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387
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Fat4
FAT atypical cadherin 4
ISO
ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 2 ClinVar Annotator: match by OMIM:616006
OMIM ClinVar
PMID:2624276 PMID:22473091 PMID:24056717 PMID:24913602 PMID:25741868
NCBI chr 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387
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Adamts3
ADAM metallopeptidase with thrombospondin type 1, motif 3
ISO
ClinVar Annotator: match by term: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3
ClinVar OMIM
PMID:28985353 PMID:30450763
NCBI chr14:19,866,278...20,072,896
Ensembl chr14:19,866,408...20,070,994
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Ccbe1
collagen and calcium binding EGF domains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19911200 PMID:19935664
NCBI chr18:61,758,754...62,013,194
Ensembl chr18:61,759,289...61,788,863
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Fat4
FAT atypical cadherin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387
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Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: Takao vcf syndrome
ClinVar
PMID:11748311 PMID:15355425 PMID:18375573 PMID:25741868 PMID:28492532
NCBI chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969
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Chrd
chordin
ISS
OMIM:192430
MouseDO
NCBI chr11:83,858,503...83,867,543
Ensembl chr11:83,858,503...83,867,203
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Crkl
CRK like proto-oncogene, adaptor protein
ISS
OMIM:192430
MouseDO
NCBI chr11:87,338,606...87,356,644
Ensembl chr11:87,778,312...87,815,043
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Dgcr2
DiGeorge syndrome critical region gene 2
ISS
OMIM:192430
MouseDO
NCBI chr11:87,242,441...87,290,806
Ensembl chr11:87,242,522...87,292,955
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Dgcr6
DiGeorge syndrome critical region gene 6
ISS
OMIM:192430
MouseDO
NCBI chr11:87,076,205...87,081,306
Ensembl chr11:87,076,381...87,081,950
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Dgcr8
DGCR8 microprocessor complex subunit
ISS
OMIM:192430
MouseDO
NCBI chr11:86,852,682...86,885,233
Ensembl chr11:86,852,711...86,885,224
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Ednra
endothelin receptor type A
ISS
OMIM:192430
MouseDO
NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
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Ess2
ess-2 splicing factor homolog
ISS
OMIM:192430
MouseDO
NCBI chr11:87,224,371...87,234,329
Ensembl chr11:87,224,421...87,233,326
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Mapk1
mitogen activated protein kinase 1
ISS
OMIM:192430
MouseDO
NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
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Prickle1
prickle planar cell polarity protein 1
ISS
OMIM:192430
MouseDO
NCBI chr 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215
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Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: Conotruncal anomaly face syndrome/velocardiofacial syndrome ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome ClinVar Annotator: match by term: Shprintzen syndrome ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar OMIM
PMID:11748311 PMID:14585638 PMID:15060116 PMID:15355425 PMID:15703190 PMID:16684884 PMID:17273972 PMID:18375573 PMID:19948535 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969
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Trappc10
trafficking protein particle complex subunit 10
ISS
OMIM:192430
MouseDO
NCBI chr20:11,168,298...11,228,634
Ensembl chr20:11,168,298...11,228,625
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