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.
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Casr
calcium-sensing receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11701698
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Gata3
GATA binding protein 3
ISO
HDR Syndrome/Barakat Syndrome, OMIM:146255
RGD
PMID:10935639
RGD:1358706
NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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Gcm2
glial cells missing transcription factor 2
ISS
OMIM:146200 | OMIM:307700
MouseDO
NCBI chr17:23,652,637...23,661,754
Ensembl chr17:23,652,637...23,661,754
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Tbce
tubulin folding cofactor E
ISO
hypoparathyroidism-retardation-dysmorphism syndrome, OMIM:241410
RGD
PMID:12389028
RGD:1599303
NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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Tbx1
T-box transcription factor 1
ISO
DNA:frameshift mutation:CDS:p.G387AfsX73 (human)
RGD
PMID:32110744
RGD:155641234
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Fgf8
fibroblast growth factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12223415
NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
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Six1
SIX homeobox 1
ISO
RGD
PMID:21364285
RGD:11561941
NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975
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Tbx1
T-box transcription factor 1
ISO
RGD
PMID:16452092
RGD:155663362
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Casr
calcium-sensing receptor
ISS ISO
OMIM:601198 ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1 | ClinVar Annotator: match by term: HYPOCALCEMIA, FAMILIAL
MouseDO ClinVar OMIM
PMID:791660 PMID:1302026 PMID:1706284 PMID:7054696 PMID:7726161 PMID:7791841 PMID:7874174 PMID:7916660 PMID:8636323 PMID:8675635 PMID:8698326 PMID:8702647 PMID:8733126 PMID:8813042 PMID:8878438 PMID:9011580 PMID:9253358 PMID:9422777 PMID:9536098 PMID:9661634 PMID:9920108 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10487661 PMID:10770217 PMID:10912749 PMID:10912782 PMID:10971459 PMID:11013439 PMID:11102444 PMID:11134112 PMID:11136551 PMID:11152759 PMID:11161843 PMID:11248745 PMID:11580999 PMID:11701698 PMID:11733622 PMID:11807402 PMID:11889203 PMID:12018449 PMID:12040821 PMID:12050233 PMID:12052452 PMID:12067826 PMID:12095982 PMID:12107202 PMID:12114500 PMID:12162500 PMID:12191970 PMID:12239240 PMID:12241879 PMID:12574188 PMID:12574201 PMID:12733714 PMID:12890593 PMID:12915654 PMID:14508624 PMID:14519094 PMID:14985373 PMID:14997007 PMID:15201280 PMID:15292296 PMID:15531522 PMID:15572418 PMID:15591042 PMID:15598778 PMID:15699544 PMID:15751724 PMID:15864123 PMID:15879434 PMID:16128246 PMID:16497624 PMID:16608894 PMID:16649980 PMID:17018660 PMID:17039419 PMID:17117288 PMID:17284438 PMID:17309124 PMID:17320849 PMID:17332735 PMID:17473068 PMID:17478419 PMID:17555508 PMID:17576681 PMID:17698911 PMID:18328986 PMID:18680227 PMID:18751724 PMID:18756473 PMID:18796518 PMID:18938753 PMID:19179454 PMID:19389809 PMID:19694204 PMID:19759318 PMID:19779033 PMID:20119591 PMID:20164288 PMID:20501971 PMID:20602573 PMID:20668040 PMID:21239511 PMID:21289269 PMID:21414629 PMID:21441391 PMID:21521328 PMID:21645025 PMID:22024717 PMID:22192860 PMID:22422767 PMID:22789683 PMID:22798347 PMID:23077345 PMID:23186954 PMID:23372019 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24244430 PMID:24297799 PMID:24517148 PMID:24823460 PMID:24854525 PMID:24947037 PMID:24948345 PMID:25091521 PMID:25137426 PMID:25292184 PMID:25326635 PMID:25420019 PMID:25506941 PMID:25701758 PMID:25705702 PMID:25741868 PMID:26107257 PMID:26161261 PMID:26166472 PMID:26323216 PMID:26467025 PMID:26646938 PMID:26963950 PMID:27157104 PMID:27390877 PMID:27666534 PMID:27739473 PMID:27957351 PMID:28176280 PMID:28492532 PMID:29846619 PMID:29848507 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30895164 PMID:31189130 PMID:31433865 PMID:31672324 PMID:31883284 PMID:32347971 PMID:32386559 PMID:33112267 PMID:34008892 PMID:34913197 PMID:35242665 PMID:35300448 PMID:35818129 More...
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Casr
calcium-sensing receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome
CTD ClinVar
PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 PMID:15005845 PMID:17048213 PMID:25506941 PMID:25741868 PMID:28492532 More...
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Abca3
ATP binding cassette subfamily A member 3
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:28492532
NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
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Aifm3
apoptosis inducing factor, mitochondria associated 3
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,504,859...83,523,630
Ensembl chr11:83,504,861...83,521,248
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Arvcf
ARVCF, delta catenin family member
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805
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Bcr
BCR activator of RhoGEF and GTPase
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:25741868 PMID:38177409
NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
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C11h22orf39
similar to human chromosome 22 open reading frame 39
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235
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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:25741868 PMID:31690835 PMID:38177409
NCBI chr11:83,842,707...83,850,607
Ensembl chr11:83,845,557...83,850,607
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Ccdc188
coiled-coil domain containing 188
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,769,735...82,772,062
Ensembl chr11:82,769,473...82,772,114
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Cdc45
cell division cycle 45
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
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Cldn5
claudin 5
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992
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Comt
catechol-O-methyltransferase
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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Crkl
CRK like proto-oncogene, adaptor protein
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238
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Dgcr2
DiGeorge syndrome critical region gene 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502
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Dgcr8
DGCR8 microprocessor complex subunit
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242
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Ess2
ess-2 splicing factor homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846
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Gnaz
G protein subunit alpha z
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:25741868 PMID:38177409
NCBI chr20:13,643,473...13,694,240
Ensembl chr20:13,644,640...13,669,907
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Gnb1l
G protein subunit beta 1 like
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
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Gp1bb
glycoprotein Ib platelet subunit beta
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
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Gsc2
goosecoid homeobox 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126
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Hic2
HIC ZBTB transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:25741868 PMID:38177409
NCBI chr11:83,737,075...83,789,554
Ensembl chr11:83,738,874...83,767,484
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Hira
histone cell cycle regulator
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529
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Iglc1
immunoglobulin lambda constant 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:25741868 PMID:38177409
NCBI chr11:81,947,966...81,949,822
Ensembl chr11:81,947,934...81,949,822
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Igll1
immunoglobulin lambda-like polypeptide 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:25741868 PMID:38177409
NCBI chr11:84,138,847...84,142,238
Ensembl chr11:84,138,910...84,142,216
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Klhl22
kelch-like family member 22
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770
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LOC120095536
protein FAM246A-like
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,150,952...83,151,644
Ensembl chr11:83,150,952...83,151,644
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Lrrc74b
leucine rich repeat containing 74B
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,450,588...83,468,906
Ensembl chr11:83,450,624...83,468,922
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Lztr1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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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:25741868 PMID:31690835 PMID:38177409
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Med15
mediator complex subunit 15
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362
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Mir1306
microRNA 1306
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719
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Mir130b
microRNA 130b
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr11:83,880,163...83,880,244
Ensembl chr11:83,880,163...83,880,244
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Mir185
microRNA 185
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795
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Mrpl40
mitochondrial ribosomal protein L40
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233
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P2rx6
purinergic receptor P2X 6
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,439,922...83,450,449
Ensembl chr11:83,439,924...83,450,481
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Pi4ka
phosphatidylinositol 4-kinase alpha
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080
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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:25741868 PMID:31690835 PMID:38177409
NCBI chr11:83,897,719...83,920,970
Ensembl chr11:83,897,764...83,922,144
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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:25741868 PMID:31690835 PMID:38177409
NCBI chr11:84,064,422...84,094,410
Ensembl chr11:84,064,420...84,094,340
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Pramex1
PRAME like, X-linked 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Rab36
RAB36, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:25741868 PMID:38177409
NCBI chr20:13,606,700...13,624,304
Ensembl chr20:13,608,136...13,624,170
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Ranbp1
RAN binding protein 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838
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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:25741868 PMID:31690835 PMID:38177409
NCBI chr11:83,783,816...83,789,391
Ensembl chr11:83,784,244...83,789,082
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Rsph14
radial spoke head 14 homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:25741868 PMID:38177409
NCBI chr20:13,627,495...13,703,447
Ensembl chr20:13,629,000...13,703,449
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Rtn4r
reticulon 4 receptor
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,844,309...82,869,251
Ensembl chr11:82,844,309...82,869,466
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Scarf2
scavenger receptor class F, member 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348
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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:25741868 PMID:31690835 PMID:38177409
NCBI chr11:83,872,659...83,874,902
Ensembl chr11:83,872,659...83,874,902
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Septin5
septin 5
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393
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Serpind1
serpin family D member 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519
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Slc25a1
solute carrier family 25 member 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
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Slc7a4
solute carrier family 7, member 4
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,435,093...83,439,078
Ensembl chr11:83,435,211...83,438,881
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Snap29
synaptosome associated protein 29
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958
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Snora77b
small nucleolar RNA, H/ACA box 77B
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,749,967...82,750,091
Ensembl chr11:82,749,967...82,750,091
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Tango2
transport and golgi organization 2 homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
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Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Thap7
THAP domain containing 7
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,482,958...83,486,136
Ensembl chr11:83,483,037...83,486,436
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Tmem191c
transmembrane protein 191C
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr11:83,726,155...83,728,926
Ensembl chr11:83,725,185...83,730,172
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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:25741868 PMID:31690835 PMID:38177409
NCBI chr11:84,097,018...84,125,474
Ensembl chr11:84,097,026...84,125,392
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Trmt2a
tRNA methyltransferase 2 homolog A
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,737,689...82,742,423
Ensembl chr11:82,737,689...82,742,336
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Tssk2
testis-specific serine kinase 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,086,578...83,087,933
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Txnrd2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
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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:25741868 PMID:31690835 PMID:38177409
NCBI chr11:83,797,722...83,838,862
Ensembl chr11:83,797,722...83,838,862
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Ufd1
ubiquitin recognition factor in ER associated degradation 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087
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Vpreb1a
V-set pre-B cell surrogate light chain 1A
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr11:84,126,969...84,127,846
Ensembl chr11:84,126,969...84,127,846
G
Wfdc21
WAP four-disulfide core domain 21
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701
G
Ydjc
YdjC chitooligosaccharide deacetylase homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr11:83,832,177...83,844,691
Ensembl chr11:83,841,306...83,846,336
G
Ypel1
yippee-like 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr11:83,921,799...83,936,409
G
Zdhhc8
zinc finger DHHC-type palmitoyltransferase 8
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,755,110...82,769,280
Ensembl chr11:82,755,143...82,767,734
G
Zfp280b
zinc finger protein 280B
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr20:12,627,106...12,641,943
Ensembl chr20:12,627,106...12,646,683
G
Zim1
zinc finger, imprinted 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr 1:67,132,076...67,157,843
Ensembl chr 1:67,132,147...67,153,761
G
Aifm3
apoptosis inducing factor, mitochondria associated 3
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,504,859...83,523,630
Ensembl chr11:83,504,861...83,521,248
G
Arvcf
ARVCF, delta catenin family member
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805
G
C11h22orf39
similar to human chromosome 22 open reading frame 39
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235
G
Ccdc188
coiled-coil domain containing 188
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,769,735...82,772,062
Ensembl chr11:82,769,473...82,772,114
G
Cdc45
cell division cycle 45
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
G
Cldn5
claudin 5
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992
G
Comt
catechol-O-methyltransferase
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
G
Crkl
CRK like proto-oncogene, adaptor protein
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238
G
Dgcr2
DiGeorge syndrome critical region gene 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502
G
Dgcr8
DGCR8 microprocessor complex subunit
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242
G
Ess2
ess-2 splicing factor homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846
G
Gnb1l
G protein subunit beta 1 like
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
G
Gp1bb
glycoprotein Ib platelet subunit beta
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
G
Gsc2
goosecoid homeobox 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126
G
Hira
histone cell cycle regulator
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529
G
Klhl22
kelch-like family member 22
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770
G
LOC120095536
protein FAM246A-like
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,150,952...83,151,644
Ensembl chr11:83,150,952...83,151,644
G
Lrrc74b
leucine rich repeat containing 74B
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,450,588...83,468,906
Ensembl chr11:83,450,624...83,468,922
G
Lztr1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
G
Med15
mediator complex subunit 15
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362
G
Mir1306
microRNA 1306
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719
G
Mir185
microRNA 185
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795
G
Mrpl40
mitochondrial ribosomal protein L40
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233
G
P2rx6
purinergic receptor P2X 6
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,439,922...83,450,449
Ensembl chr11:83,439,924...83,450,481
G
Pi4ka
phosphatidylinositol 4-kinase alpha
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080
G
Ranbp1
RAN binding protein 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838
G
Rtn4r
reticulon 4 receptor
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,844,309...82,869,251
Ensembl chr11:82,844,309...82,869,466
G
Scarf2
scavenger receptor class F, member 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348
G
Septin5
septin 5
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393
G
Serpind1
serpin family D member 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519
G
Slc25a1
solute carrier family 25 member 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
G
Slc7a4
solute carrier family 7, member 4
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,435,093...83,439,078
Ensembl chr11:83,435,211...83,438,881
G
Snap29
synaptosome associated protein 29
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958
G
Snora77b
small nucleolar RNA, H/ACA box 77B
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,749,967...82,750,091
Ensembl chr11:82,749,967...82,750,091
G
Tango2
transport and golgi organization 2 homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
G
Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
G
Thap7
THAP domain containing 7
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,482,958...83,486,136
Ensembl chr11:83,483,037...83,486,436
G
Trmt2a
tRNA methyltransferase 2 homolog A
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,737,689...82,742,423
Ensembl chr11:82,737,689...82,742,336
G
Tssk2
testis-specific serine kinase 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,086,578...83,087,933
G
Txnrd2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
G
Ufd1
ubiquitin recognition factor in ER associated degradation 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087
G
Wfdc21
WAP four-disulfide core domain 21
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701
G
Zdhhc8
zinc finger DHHC-type palmitoyltransferase 8
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,755,110...82,769,280
Ensembl chr11:82,755,143...82,767,734
G
Zim1
zinc finger, imprinted 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr 1:67,132,076...67,157,843
Ensembl chr 1:67,132,147...67,153,761
G
Aifm3
apoptosis inducing factor, mitochondria associated 3
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,504,859...83,523,630
Ensembl chr11:83,504,861...83,521,248
G
Aldh1a2
aldehyde dehydrogenase 1 family, member A2
ISO ISS
OMIM:188400
MouseDO RGD
PMID:12563036
RGD:734550
NCBI chr 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107
G
Arvcf
ARVCF, delta catenin family member
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar RGD
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 PMID:9126485 More...
RGD:1578806
NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805
G
Bcr
BCR activator of RhoGEF and GTPase
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
G
C11h22orf39
similar to human chromosome 22 open reading frame 39
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235
G
Ccdc116
coiled-coil domain containing 116
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:83,842,707...83,850,607
Ensembl chr11:83,845,557...83,850,607
G
Ccdc188
coiled-coil domain containing 188
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome
ClinVar
NCBI chr11:82,769,735...82,772,062
Ensembl chr11:82,769,473...82,772,114
G
Cdc45
cell division cycle 45
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
G
Chrd
chordin
ISS
OMIM:188400
MouseDO
NCBI chr11:80,171,994...80,181,166
Ensembl chr11:80,171,994...80,180,673
G
Cldn5
claudin 5
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992
G
Comt
catechol-O-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
CTD ClinVar
PMID:8886163 PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
G
Crkl
CRK like proto-oncogene, adaptor protein
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:188400 ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
CTD MouseDO ClinVar
PMID:16399080 PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238
G
Dgcr2
DiGeorge syndrome critical region gene 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
CTD ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502
G
Dgcr6
DiGeorge syndrome critical region gene 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
CTD ClinVar
PMID:31690835 PMID:32581362
NCBI chr11:82,927,725...82,932,823
Ensembl chr11:82,927,725...82,932,823
G
Dgcr8
DGCR8 microprocessor complex subunit
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
CTD ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242
G
Dicer1
dicer 1 ribonuclease III
ISS
OMIM:188400
MouseDO
NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
G
Dock1
dedicator of cyto-kinesis 1
ISS
OMIM:188400
MouseDO
NCBI chr 1:189,467,143...189,983,777
Ensembl chr 1:189,467,143...189,983,768
G
Dvl1
dishevelled segment polarity protein 1
ISO
RGD
PMID:8644734
RGD:1580898
NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
G
Ess2
ess-2 splicing factor homolog
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
CTD ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846
G
Fgf8
fibroblast growth factor 8
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:188400
CTD MouseDO
PMID:16399080
NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
G
Foxn1
forkhead box N1
ISS
OMIM:188400
MouseDO
NCBI chr10:63,251,400...63,273,710
Ensembl chr10:63,251,400...63,273,710
G
Gnaz
G protein subunit alpha z
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr20:13,643,473...13,694,240
Ensembl chr20:13,644,640...13,669,907
G
Gnb1l
G protein subunit beta 1 like
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
G
Gp1bb
glycoprotein Ib platelet subunit beta
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
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Gsc2
goosecoid homeobox 2
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126
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Hic2
HIC ZBTB transcriptional repressor 2
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:83,737,075...83,789,554
Ensembl chr11:83,738,874...83,767,484
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Hira
histone cell cycle regulator
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529
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Hnf1a
HNF1 homeobox A
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 PMID:9166684 PMID:9313763 PMID:9439666 PMID:10333057 PMID:10447526 PMID:10754480 PMID:11058894 PMID:11315851 PMID:12050210 PMID:12355088 PMID:12530534 PMID:12574234 PMID:12618559 PMID:14747304 PMID:15649945 PMID:15928245 PMID:17054605 PMID:17407387 PMID:17440016 PMID:17573900 PMID:17937063 PMID:17989309 PMID:18003757 PMID:18672310 PMID:21051477 PMID:21628466 PMID:23348805 PMID:23551881 PMID:23607861 PMID:25174781 PMID:25555642 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28862987 PMID:29417725 PMID:30814848 PMID:32741144 PMID:34373539 More...
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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Hoxa3
homeobox A3
ISS
OMIM:188400
MouseDO
NCBI chr 4:81,269,243...81,313,218
Ensembl chr 4:81,269,243...81,313,218
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Iglc1
immunoglobulin lambda constant 1
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:81,947,966...81,949,822
Ensembl chr11:81,947,934...81,949,822
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Igll1
immunoglobulin lambda-like polypeptide 1
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:84,138,847...84,142,238
Ensembl chr11:84,138,910...84,142,216
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Kat6a
lysine acetyltransferase 6A
ISO ISS
OMIM:188400
MouseDO RGD
PMID:22921202
RGD:9590333
NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
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Klhl22
kelch-like family member 22
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770
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LOC120095536
protein FAM246A-like
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome
ClinVar
NCBI chr11:83,150,952...83,151,644
Ensembl chr11:83,150,952...83,151,644
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Lrrc74b
leucine rich repeat containing 74B
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome
ClinVar
NCBI chr11:83,450,588...83,468,906
Ensembl chr11:83,450,624...83,468,922
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Lztr1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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Mapk1
mitogen activated protein kinase 1
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Med15
mediator complex subunit 15
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362
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Mical3
microtubule associated monooxygenase, calponin and LIM domain containing 3
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr 4:154,152,776...154,353,274
Ensembl chr 4:154,153,834...154,302,590
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Mir1306
microRNA 1306
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome
ClinVar
NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719
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Mir130b
microRNA 130b
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:83,880,163...83,880,244
Ensembl chr11:83,880,163...83,880,244
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Mir185
microRNA 185
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome
ClinVar
NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795
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Mrpl40
mitochondrial ribosomal protein L40
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233
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Ndst1
N-deacetylase and N-sulfotransferase 1
ISS
OMIM:188400
MouseDO
NCBI chr18:54,136,887...54,199,545
Ensembl chr18:54,140,779...54,178,191
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P2rx6
purinergic receptor P2X 6
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:31690835 PMID:32581362
NCBI chr11:83,439,922...83,450,449
Ensembl chr11:83,439,924...83,450,481
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Pex26
peroxisomal biogenesis factor 26
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
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Pi4ka
phosphatidylinositol 4-kinase alpha
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080
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Plxnd1
plexin D1
ISS
OMIM:188400
MouseDO
NCBI chr 4:149,002,786...149,043,097
Ensembl chr 4:149,002,784...149,043,244
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Ppil2
peptidylprolyl isomerase like 2
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:83,897,719...83,920,970
Ensembl chr11:83,897,764...83,922,144
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Ppm1f
protein phosphatase, Mg2+/Mn2+ dependent, 1F
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:84,064,422...84,094,410
Ensembl chr11:84,064,420...84,094,340
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Pramex1
PRAME like, X-linked 1
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Prodh
proline dehydrogenase
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305
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Rab36
RAB36, member RAS oncogene family
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr20:13,606,700...13,624,304
Ensembl chr20:13,608,136...13,624,170
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Ranbp1
RAN binding protein 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838
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Rimbp3
RIMS binding protein 3
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:83,783,816...83,789,391
Ensembl chr11:83,784,244...83,789,082
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Rsph14
radial spoke head 14 homolog
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr20:13,627,495...13,703,447
Ensembl chr20:13,629,000...13,703,449
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Rtn4r
reticulon 4 receptor
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,844,309...82,869,251
Ensembl chr11:82,844,309...82,869,466
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Scarf2
scavenger receptor class F, member 2
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348
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Sdf2l1
stromal cell-derived factor 2-like 1
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:83,872,659...83,874,902
Ensembl chr11:83,872,659...83,874,902
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Septin5
septin 5
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393
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Serpind1
serpin family D member 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519
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Slc25a1
solute carrier family 25 member 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
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Slc7a4
solute carrier family 7, member 4
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:31690835 PMID:32581362
NCBI chr11:83,435,093...83,439,078
Ensembl chr11:83,435,211...83,438,881
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Snap29
synaptosome associated protein 29
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958
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Snora77b
small nucleolar RNA, H/ACA box 77B
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome
ClinVar
NCBI chr11:82,749,967...82,750,091
Ensembl chr11:82,749,967...82,750,091
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Specc1l
sperm antigen with calponin homology and coiled-coil domains 1-like
ISO
ClinVar Annotator: match by term: Autosomal dominant Opitz G/BBB syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665
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Tango2
transport and golgi organization 2 homolog
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
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Tbx1
T-box transcription factor 1
ISO ISS
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge Syndrome | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndrome OMIM:188400 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:9536098 PMID:11239417 PMID:11242049 PMID:11748311 PMID:14585638 PMID:15060116 PMID:15190012 PMID:15355425 PMID:15703190 PMID:16199547 PMID:16399080 PMID:17000704 PMID:17273972 PMID:17576681 PMID:18375573 PMID:19948535 PMID:20937753 PMID:21921585 PMID:24033266 PMID:24637876 PMID:24826987 PMID:24998776 PMID:25205790 PMID:25516202 PMID:25741868 PMID:25860641 PMID:26467025 PMID:26805781 PMID:26805782 PMID:27879657 PMID:28272434 PMID:28492532 PMID:28798025 PMID:29250159 PMID:29500247 PMID:30007050 PMID:30245509 PMID:30773290 PMID:31690835 PMID:32045288 PMID:32110744 PMID:32185379 PMID:32581362 PMID:33995479 PMID:34374102 PMID:22921202 PMID:11242110 PMID:25197075 More...
RGD:9590333 , RGD:1578374 , RGD:155641238
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Tgfbr2
transforming growth factor, beta receptor 2
ISS
OMIM:188400
MouseDO
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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Thap7
THAP domain containing 7
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:31690835 PMID:32581362
NCBI chr11:83,482,958...83,486,136
Ensembl chr11:83,483,037...83,486,436
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Tmem191c
transmembrane protein 191C
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:83,726,155...83,728,926
Ensembl chr11:83,725,185...83,730,172
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Top3b
DNA topoisomerase III beta
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:84,097,018...84,125,474
Ensembl chr11:84,097,026...84,125,392
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Tp53
tumor protein p53
ISO
RGD
PMID:25197075
RGD:155641238
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Trmt2a
tRNA methyltransferase 2 homolog A
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,737,689...82,742,423
Ensembl chr11:82,737,689...82,742,336
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Tssk2
testis-specific serine kinase 2
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,086,578...83,087,933
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Tuba8
tubulin, alpha 8
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917
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Txnrd2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
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Ube2l3
ubiquitin-conjugating enzyme E2L 3
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:83,797,722...83,838,862
Ensembl chr11:83,797,722...83,838,862
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Ufd1
ubiquitin recognition factor in ER associated degradation 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar RGD
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 PMID:10024240 More...
RGD:1580803
NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087
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Usp18
ubiquitin specific peptidase 18
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144
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Vegfa
vascular endothelial growth factor A
ISS
OMIM:188400
MouseDO
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vpreb1a
V-set pre-B cell surrogate light chain 1A
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:84,126,969...84,127,846
Ensembl chr11:84,126,969...84,127,846
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Wfdc21
WAP four-disulfide core domain 21
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:25516202 PMID:28492532
NCBI chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701
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Ydjc
YdjC chitooligosaccharide deacetylase homolog
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:83,832,177...83,844,691
Ensembl chr11:83,841,306...83,846,336
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Ypel1
yippee-like 1
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:83,921,799...83,936,409
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Zdhhc8
zinc finger DHHC-type palmitoyltransferase 8
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,755,110...82,769,280
Ensembl chr11:82,755,143...82,767,734
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Zfp280b
zinc finger protein 280B
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr20:12,627,106...12,641,943
Ensembl chr20:12,627,106...12,646,683
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Zfp366
zinc finger protein 366
ISS
OMIM:188400
MouseDO
NCBI chr 2:30,578,552...30,640,546
Ensembl chr 2:30,578,715...30,642,182
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Zim1
zinc finger, imprinted 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr 1:67,132,076...67,157,843
Ensembl chr 1:67,132,147...67,153,761
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Nebl
nebulette
ISO
ClinVar Annotator: match by term: DiGeorge syndrome/velocardiofacial syndrome complex 2
ClinVar
PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 PMID:28492532 PMID:28750076 PMID:33762593 More...
NCBI chr17:80,113,891...80,466,331
Ensembl chr17:80,118,543...80,466,210
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Casr
calcium-sensing receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial isolated hypoparathyroidism
CTD ClinVar
PMID:1706284 PMID:8636323 PMID:10023897 PMID:10217111 PMID:10912749 PMID:11161843 PMID:11248745 PMID:11580999 PMID:11733622 PMID:11807402 PMID:12018449 PMID:12040821 PMID:12052452 PMID:12239240 PMID:12574201 PMID:14508624 PMID:14997007 PMID:15531522 PMID:15598778 PMID:15864123 PMID:15879434 PMID:16497624 PMID:17018660 PMID:17117288 PMID:17309124 PMID:17320849 PMID:17332735 PMID:17555508 PMID:17698911 PMID:18328986 PMID:18680227 PMID:18756473 PMID:19694204 PMID:20119591 PMID:20164288 PMID:20602573 PMID:21414629 PMID:21521328 PMID:21645025 PMID:22024717 PMID:22192860 PMID:22422767 PMID:24033266 PMID:24133354 PMID:25292184 PMID:25705702 PMID:25741868 PMID:26107257 PMID:26166472 PMID:26467025 PMID:26646938 PMID:27157104 PMID:27957351 PMID:28492532 PMID:29846619 PMID:30895164 More...
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Gcm2
glial cells missing transcription factor 2
ISO
ClinVar Annotator: match by term: Familial isolated hypoparathyroidism
ClinVar
PMID:15728199 PMID:16199547 PMID:18182452 PMID:20190276 PMID:21642377 PMID:23155703 PMID:25741868 PMID:27745835 PMID:28492532 PMID:29264504 PMID:30624640 PMID:31671402 PMID:32576032 PMID:35038313 More...
NCBI chr17:23,652,637...23,661,754
Ensembl chr17:23,652,637...23,661,754
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Pth
parathyroid hormone
ISO
DNA:missense mutation:cds:p.C18R (human) ClinVar Annotator: match by term: Familial isolated hypoparathyroidism CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1302009 PMID:1425431 PMID:18784115 PMID:24033266 PMID:25741868 PMID:28492532 PMID:2212001 More...
RGD:1598941
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Pth
parathyroid hormone
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, familial isolated 1
OMIM ClinVar
PMID:2212001 PMID:3005800 PMID:10523031 PMID:18056632 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Gcm2
glial cells missing transcription factor 2
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, familial isolated, 2
OMIM ClinVar
PMID:11602629 PMID:15728199 PMID:15863676 PMID:18583467 PMID:18712808 PMID:21642377 PMID:25741868 PMID:27745835 PMID:28492532 PMID:29264504 PMID:30624640 PMID:31671402 PMID:32576032 PMID:35038313 More...
NCBI chr17:23,652,637...23,661,754
Ensembl chr17:23,652,637...23,661,754
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Pth
parathyroid hormone
ISO
DNA:snp:intron:IVS2+1G>C (human)
RGD
PMID:1302009
RGD:1598943
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Acbd7
acyl-CoA binding domain containing 7
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:74,903,936...74,909,977
Ensembl chr17:74,903,177...74,905,811
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Akr1c1
aldo-keto reductase family 1, member C1
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326
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Akr1c2
aldo-keto reductase family 1, member C2
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764
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Akr1c3
aldo-keto reductase family 1, member C3
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873
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Akr1e2
aldo-keto reductase family 1, member E2
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:65,735,909...65,750,441
Ensembl chr17:65,735,943...65,750,441
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Ankrd16
ankyrin repeat domain 16
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:66,735,325...66,748,533
Ensembl chr17:66,737,261...66,748,533
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Arl5b
ADP-ribosylation factor like GTPase 5B
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:77,955,864...77,979,895
Ensembl chr17:77,955,818...77,979,854
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Asb13
ankyrin repeat and SOCS box-containing 13
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:66,564,653...66,583,365
Ensembl chr17:66,562,434...66,583,337
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Atp5f1c
ATP synthase F1 subunit gamma
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:68,423,927...68,446,169
Ensembl chr17:68,423,909...68,608,367
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Bend7
BEN domain containing 7
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:73,483,212...73,566,221
Ensembl chr17:73,485,282...73,567,559
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C1ql3
complement C1q like 3
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:76,119,344...76,129,170
Ensembl chr17:76,119,447...76,128,530
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Cacnb2
calcium voltage-gated channel auxiliary subunit beta 2
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106
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Calml3
calmodulin-like 3
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:66,419,844...66,423,083
Ensembl chr17:66,419,882...66,423,175
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Calml5
calmodulin-like 5
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:66,394,433...66,395,352
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Camk1d
calcium/calmodulin-dependent protein kinase ID
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:72,581,899...72,982,704
Ensembl chr17:72,581,979...72,980,556
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Ccdc3
coiled-coil domain containing 3
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:73,031,891...73,135,173
Ensembl chr17:73,035,045...73,135,337
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Cdc123
cell division cycle 123
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:72,459,270...72,503,316
Ensembl chr17:72,459,282...72,503,316
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Cdnf
cerebral dopamine neurotrophic factor
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:74,714,564...74,728,639
Ensembl chr17:74,713,564...74,728,639
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Celf2
CUGBP, Elav-like family member 2
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:70,904,462...71,729,072
Ensembl chr17:71,210,853...71,728,333
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Cubn
cubilin
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231
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Dclre1c
DNA cross-link repair 1C
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186
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Dhtkd1
dehydrogenase E1 and transketolase domain containing 1
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723
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Echdc3
enoyl CoA hydratase domain containing 3
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:72,070,697...72,093,519
Ensembl chr17:72,070,668...72,093,516
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Fam107b
family with sequence similarity 107, member B
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:74,478,608...74,685,027
Ensembl chr17:74,478,608...74,684,989
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Fam171a1
family with sequence similarity 171, member A1
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:75,024,582...75,148,348
Ensembl chr17:75,024,575...75,150,255
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Fbh1
F-box DNA helicase 1
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:66,749,506...66,787,590
Ensembl chr17:66,749,534...66,787,590
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Frmd4a
FERM domain containing 4A
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:73,667,787...74,258,487
Ensembl chr17:73,667,789...74,258,687
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Gata3
GATA binding protein 3
ISO ISS
OMIM:146255 ClinVar Annotator: match by term: GATA3-related condition | ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome CTD Direct Evidence: marker/mechanism
OMIM MouseDO ClinVar CTD
PMID:9536098 PMID:10935639 PMID:11389161 PMID:14985365 PMID:15705923 PMID:16199547 PMID:16912130 PMID:17210674 PMID:17309062 PMID:17576681 PMID:18621058 PMID:19057839 PMID:19248180 PMID:19253381 PMID:20006695 PMID:21120445 PMID:21242646 PMID:21834031 PMID:23052618 PMID:23142663 PMID:23435732 PMID:24033266 PMID:24728327 PMID:25137426 PMID:25741868 PMID:25741912 PMID:26282285 PMID:26316437 PMID:26467025 PMID:26514990 PMID:27387476 PMID:28492532 PMID:28566604 PMID:30143558 PMID:30311386 PMID:30396722 PMID:30534854 PMID:31433868 PMID:32442337 PMID:33120464 PMID:35802133 PMID:36633841 More...
NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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Gdi2
GDP dissociation inhibitor 2
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:66,649,616...66,676,299
Ensembl chr17:66,649,619...66,676,366
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Hacd1
3-hydroxyacyl-CoA dehydratase 1
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:77,081,508...77,106,114
Ensembl chr17:77,083,740...77,106,073
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Hspa14
heat shock protein family A (Hsp70) member 14
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:74,728,945...74,749,727
Ensembl chr17:74,728,899...74,749,727
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Il15ra
interleukin 15 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:66,802,300...66,831,973
Ensembl chr17:66,802,334...66,832,278
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Il2ra
interleukin 2 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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Itga8
integrin subunit alpha 8
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:75,304,004...75,501,510
Ensembl chr17:75,304,008...75,501,510
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Itih2
inter-alpha-trypsin inhibitor heavy chain 2
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:68,375,574...68,411,849
Ensembl chr17:68,375,567...68,411,841
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Itih5
inter-alpha-trypsin inhibitor heavy chain 5
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:68,248,115...68,352,216
Ensembl chr17:68,252,128...68,352,207
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Kin
Kin17 DNA and RNA binding protein
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:68,413,483...68,431,392
Ensembl chr17:68,413,486...68,423,845
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Mcm10
minichromosome maintenance 10 replication initiation factor
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:73,263,788...73,288,346
Ensembl chr17:73,266,095...73,287,364
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Meig1
meiosis/spermiogenesis associated 1
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:74,810,791...74,828,433
Ensembl chr17:74,814,632...74,828,433
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Mindy3
MINDY lysine 48 deubiquitinase 3
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:75,545,286...75,623,884
Ensembl chr17:75,545,286...75,623,854
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Net1
neuroepithelial cell transforming 1
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:66,341,251...66,370,445
Ensembl chr17:66,340,728...66,370,441
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Nmt2
N-myristoyltransferase 2
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:74,917,833...74,964,788
Ensembl chr17:74,917,833...74,961,080
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Nsun6
NOP2/Sun RNA methyltransferase 6
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:77,912,374...77,955,694
Ensembl chr17:77,912,377...77,950,006
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Nudt5
nudix hydrolase 5
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001
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Olah
oleoyl-ACP hydrolase
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:74,877,651...74,902,517
Ensembl chr17:74,877,655...74,902,518
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Optn
optineurin
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
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Pfkfb3
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:66,983,629...67,064,702
Ensembl chr17:66,983,686...67,063,125
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Phyh
phytanoyl-CoA 2-hydroxylase
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
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Prkcq
protein kinase C, theta
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:67,246,394...67,379,049
Ensembl chr17:67,246,394...67,378,704
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Proser2
proline and serine rich 2
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:72,151,961...72,187,524
Ensembl chr17:72,151,872...72,185,825
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Prpf18
pre-mRNA processing factor 18
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:73,630,560...73,661,210
Ensembl chr17:73,630,571...73,690,979
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Pter
phosphotriesterase related
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:76,058,388...76,119,633
Ensembl chr17:76,058,503...76,119,627
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Rbm17
RNA binding motif protein 17
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:66,937,140...66,954,034
Ensembl chr17:66,937,140...66,954,014
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Rpp38
ribonuclease P/MRP subunit p38
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:74,914,066...74,917,742
Ensembl chr17:74,908,932...74,927,431
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Rsu1
Ras suppressor protein 1
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:76,128,774...76,377,515
Ensembl chr17:76,188,812...76,377,454
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Sec61a2
SEC61 translocon subunit alpha 2
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:72,407,574...72,445,630
Ensembl chr17:72,407,671...72,434,494
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Sephs1
selenophosphate synthetase 1
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:73,354,435...73,382,803
Ensembl chr17:73,356,530...73,382,593
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Sfmbt2
Scm-like with four mbt domains 2
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:67,934,296...68,128,905
Ensembl chr17:67,935,904...68,128,781
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Slc39a12
solute carrier family 39 member 12
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:77,353,761...77,440,384
Ensembl chr17:77,353,805...77,440,353
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St8sia6
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:76,740,755...76,884,178
Ensembl chr17:76,745,224...76,884,299
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Stam
signal transducing adaptor molecule
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:77,120,235...77,166,173
Ensembl chr17:77,120,158...77,166,467
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Suv39h2
SUV39H2 histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:74,756,290...74,775,332
Ensembl chr17:74,756,306...74,775,332
G
Taf3
TATA-box binding protein associated factor 3
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:68,455,389...68,608,367
Ensembl chr17:68,423,909...68,608,367
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Tasor2
transcription activation suppressor family member 2
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:66,583,554...66,650,127
Ensembl chr17:66,594,908...66,649,135
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Trdmt1
tRNA aspartic acid methyltransferase 1
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:76,601,966...76,646,104
Ensembl chr17:76,610,543...76,645,439
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Tubal3
tubulin, alpha-like 3
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:66,323,733...66,332,423
Ensembl chr17:66,323,733...66,335,355
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Ucma
upper zone of growth plate and cartilage matrix associated
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:73,293,977...73,303,709
Ensembl chr17:73,293,978...73,303,611
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Ucn3
urocortin 3
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:66,309,748...66,315,996
Ensembl chr17:66,309,371...66,315,990
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Upf2
UPF2, regulator of nonsense mediated mRNA decay
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:72,224,575...72,335,896
Ensembl chr17:72,225,316...72,335,855
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Usp6nl
USP6 N-terminal like
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:71,828,433...71,956,878
Ensembl chr17:71,830,469...71,956,027
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Vim
vimentin
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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B3galnt2
beta-1,3-N-acetylgalactosaminyltransferase 2
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
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Tbce
tubulin folding cofactor E
ISO
ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:12389028 PMID:12389029 PMID:16199547 PMID:16938882 PMID:17576681 PMID:20152369 PMID:25097779 PMID:25741868 PMID:26231322 PMID:26336027 PMID:27666369 PMID:28492532 PMID:30080992 PMID:30638765 PMID:33652732 PMID:34134906 PMID:34356170 PMID:35432193 More...
NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: Conotruncal anomaly face syndrome
ClinVar
PMID:14585638 PMID:15703190 PMID:17273972
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Aifm3
apoptosis inducing factor, mitochondria associated 3
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,504,859...83,523,630
Ensembl chr11:83,504,861...83,521,248
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Arvcf
ARVCF, delta catenin family member
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805
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C11h22orf39
similar to human chromosome 22 open reading frame 39
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235
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Ccdc188
coiled-coil domain containing 188
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,769,735...82,772,062
Ensembl chr11:82,769,473...82,772,114
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Cdc45
cell division cycle 45
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
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Chrd
chordin
ISS
OMIM:192430
MouseDO
NCBI chr11:80,171,994...80,181,166
Ensembl chr11:80,171,994...80,180,673
G
Cldn5
claudin 5
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992
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Comt
catechol-O-methyltransferase
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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Crkl
CRK like proto-oncogene, adaptor protein
ISS ISO
OMIM:192430 ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
MouseDO ClinVar
PMID:25741868
NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238
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Dgcr2
DiGeorge syndrome critical region gene 2
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502
G
Dgcr6
DiGeorge syndrome critical region gene 6
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome
ClinVar
NCBI chr11:82,927,725...82,932,823
Ensembl chr11:82,927,725...82,932,823
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Dgcr8
DGCR8 microprocessor complex subunit
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242
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Ednra
endothelin receptor type A
ISS
OMIM:192430
MouseDO
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
G
Ess2
ess-2 splicing factor homolog
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846
G
Gnb1l
G protein subunit beta 1 like
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
G
Gp1bb
glycoprotein Ib platelet subunit beta
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
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Gsc2
goosecoid homeobox 2
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126
G
Hira
histone cell cycle regulator
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529
G
Klhl22
kelch-like family member 22
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770
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LOC120095536
protein FAM246A-like
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,150,952...83,151,644
Ensembl chr11:83,150,952...83,151,644
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Lrrc74b
leucine rich repeat containing 74B
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,450,588...83,468,906
Ensembl chr11:83,450,624...83,468,922
G
Lztr1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
G
Mapk1
mitogen activated protein kinase 1
ISS
OMIM:192430
MouseDO
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
G
Med15
mediator complex subunit 15
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362
G
Mir1306
microRNA 1306
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719
G
Mir185
microRNA 185
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795
G
Mrpl40
mitochondrial ribosomal protein L40
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233
G
P2rx6
purinergic receptor P2X 6
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,439,922...83,450,449
Ensembl chr11:83,439,924...83,450,481
G
Pi4ka
phosphatidylinositol 4-kinase alpha
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080
G
Prickle1
prickle planar cell polarity protein 1
ISS
OMIM:192430
MouseDO
NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113
G
Prodh
proline dehydrogenase
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome
ClinVar
NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305
G
Ranbp1
RAN binding protein 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838
G
Rtn4r
reticulon 4 receptor
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,844,309...82,869,251
Ensembl chr11:82,844,309...82,869,466
G
Scarf2
scavenger receptor class F, member 2
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348
G
Septin5
septin 5
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393
G
Serpind1
serpin family D member 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519
G
Slc25a1
solute carrier family 25 member 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
G
Slc7a4
solute carrier family 7, member 4
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,435,093...83,439,078
Ensembl chr11:83,435,211...83,438,881
G
Snap29
synaptosome associated protein 29
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958
G
Snora77b
small nucleolar RNA, H/ACA box 77B
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,749,967...82,750,091
Ensembl chr11:82,749,967...82,750,091
G
Tango2
transport and golgi organization 2 homolog
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
G
Tbx1
T-box transcription factor 1
ISO ISS
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Shprintzen VCF syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome OMIM:192430
OMIM ClinVar MouseDO RGD
PMID:9536098 PMID:11748311 PMID:15355425 PMID:16684884 PMID:17273972 PMID:17576681 PMID:18375573 PMID:25741868 PMID:25860641 PMID:28492532 PMID:29250159 PMID:29500247 PMID:33995479 PMID:15190012 More...
RGD:155641243
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Thap7
THAP domain containing 7
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,482,958...83,486,136
Ensembl chr11:83,483,037...83,486,436
G
Trappc10
trafficking protein particle complex subunit 10
ISS
OMIM:192430
MouseDO
NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074
G
Trmt2a
tRNA methyltransferase 2 homolog A
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,737,689...82,742,423
Ensembl chr11:82,737,689...82,742,336
G
Tssk2
testis-specific serine kinase 2
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,086,578...83,087,933
G
Txnrd2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
G
Ufd1
ubiquitin recognition factor in ER associated degradation 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087
G
Wfdc21
WAP four-disulfide core domain 21
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701
G
Zdhhc8
zinc finger DHHC-type palmitoyltransferase 8
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,755,110...82,769,280
Ensembl chr11:82,755,143...82,767,734
G
Zim1
zinc finger, imprinted 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr 1:67,132,076...67,157,843
Ensembl chr 1:67,132,147...67,153,761
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