RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: 22q11 Deletion Syndrome
Accession: DOID:9001460
browse the term
Definition: Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.
Synonyms: exact_synonym: 22q11 Deletion Syndromes
primary_id: MESH:D058165
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
FGF8
fibroblast growth factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12223415
NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248
G
SIX1
SIX homeobox 1
ISO
RGD
PMID:21364285
RGD:11561941
NCBI chr 1:189,620,430...189,624,652
Ensembl chr 1:189,619,855...189,624,651
G
TBX1
T-box transcription factor 1
ISO
RGD
PMID:16452092
RGD:155663362
NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ABCA3
ATP binding cassette subfamily A member 3
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:28492532
NCBI chr 3:39,689,133...39,732,466
Ensembl chr 3:39,698,895...39,732,978
G
AIFM3
apoptosis inducing factor mitochondria associated 3
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:50,562,611...50,576,273
Ensembl chr14:50,562,776...50,576,275
G
ARVCF
ARVCF delta catenin family member
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:51,403,215...51,440,036
Ensembl chr14:51,403,923...51,440,058
G
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 chr14:49,208,662...49,322,109
Ensembl chr14:49,208,762...49,322,103
G
C14H22orf39
chromosome 14 C22orf39 homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:51,106,984...51,112,385
Ensembl chr14:51,106,991...51,112,359
G
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 chr14:50,255,859...50,260,743
G
CCDC188
coiled-coil domain containing 188
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:51,517,669...51,520,622
Ensembl chr14:51,517,234...51,520,622
G
CDC45
cell division cycle 45
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606
G
CLDN5
claudin 5
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:51,161,490...51,162,382
Ensembl chr14:51,161,042...51,163,482
G
COMT
catechol-O-methyltransferase
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
G
CRKL
CRK like proto-oncogene, adaptor protein
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:50,528,950...50,558,664
Ensembl chr14:50,528,955...50,558,662
G
DGCR2
DiGeorge syndrome critical region gene 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:50,881,260...50,935,603
Ensembl chr14:50,877,872...50,935,564
G
DGCR6L
DiGeorge syndrome critical region gene 6 like
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:51,644,840...51,657,368
G
DGCR8
DGCR8 microprocessor complex subunit
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:51,473,512...51,489,535
Ensembl chr14:51,469,178...51,489,529
G
ESS2
ess-2 splicing factor homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:50,945,121...50,956,018
Ensembl chr14:50,945,122...50,955,983
G
GGT1
gamma-glutamyltransferase 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:25741868
NCBI chr14:49,618,737...49,638,054
G
GNAZ
G protein subunit alpha z
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:25741868 PMID:38177409
NCBI chr14:49,132,012...49,174,114
Ensembl chr14:49,132,013...49,174,108
G
GNB1L
G protein subunit beta 1 like
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:51,306,561...51,343,040
Ensembl chr14:51,305,039...51,343,029
G
GP1BB
glycoprotein Ib platelet subunit beta
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114
G
GSC2
goosecoid homeobox 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:50,956,315...50,960,424
Ensembl chr14:50,957,991...50,960,193
G
HIC2
HIC ZBTB transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:25741868 PMID:38177409
NCBI chr14:50,347,575...50,373,007
Ensembl chr14:50,365,851...50,368,634
G
HIRA
histone cell cycle regulator
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:51,029,117...51,102,409
Ensembl chr14:51,029,126...51,102,409
G
KLHL22
kelch like family member 22
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:50,773,917...50,809,991
Ensembl chr14:50,773,964...50,809,986
G
LOC100153093
RIMS-binding protein 3A
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr14:50,323,037...50,331,111
G
LOC100523213
immunoglobulin lambda-like polypeptide 5
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:25741868 PMID:38177409
NCBI chr14:49,951,542...49,960,517
G
LOC110256677
zinc finger protein 280A-like
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr14:48,882,955...48,888,138
G
LRRC74B
leucine rich repeat containing 74B
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:50,602,524...50,623,367
Ensembl chr14:50,602,701...50,623,116
G
LZTR1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397
G
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 chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513
G
MED15
mediator complex subunit 15
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:50,703,010...50,759,310
Ensembl chr14:50,703,019...50,759,310
G
MIR1306
microRNA mir-1306
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:51,473,918...51,473,997
Ensembl chr14:51,473,918...51,473,997
G
MIR185
microRNA mir-185
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:51,449,903...51,449,978
Ensembl chr14:51,449,903...51,449,978
G
MRPL40
mitochondrial ribosomal protein L40
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:51,102,900...51,105,769
Ensembl chr14:51,102,613...51,105,767
G
P2RX6
purinergic receptor P2X 6
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:50,595,876...50,633,536
Ensembl chr14:50,622,938...50,633,535
G
PI4KA
phosphatidylinositol 4-kinase alpha
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:50,390,416...50,491,983
Ensembl chr14:50,390,410...50,491,944
G
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 chr14:50,206,807...50,232,845
Ensembl chr14:50,208,374...50,232,830
G
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 chr14:50,040,612...50,083,047
Ensembl chr14:50,040,663...50,063,325
G
PRAME
PRAME nuclear receptor transcriptional regulator
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr14:48,901,097...48,906,855
Ensembl chr14:48,899,343...48,911,231
G
RAB36
RAB36, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:25741868 PMID:38177409
NCBI chr14:49,186,282...49,202,334
Ensembl chr14:49,188,360...49,204,656
G
RANBP1
RAN binding protein 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:51,494,258...51,500,420
Ensembl chr14:51,494,359...51,500,417
G
RSPH14
radial spoke head 14 homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:25741868 PMID:38177409
NCBI chr14:49,123,934...49,186,157
Ensembl chr14:49,123,935...49,184,735
G
RTL10
retrotransposon Gag like 10
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:51,338,134...51,342,383
G
RTN4R
reticulon 4 receptor
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:51,579,043...51,603,180
Ensembl chr14:51,579,046...51,602,968
G
SCARF2
scavenger receptor class F member 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:50,813,161...50,824,434
Ensembl chr14:50,812,984...50,824,521
G
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 chr14:50,249,607...50,251,636
Ensembl chr14:50,246,710...50,251,642
G
SEPTIN5
septin 5
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:51,252,815...51,260,851
Ensembl chr14:51,252,815...51,261,244
G
SERPIND1
serpin family D member 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:50,427,121...50,436,470
Ensembl chr14:50,427,115...50,436,468
G
SLC25A1
solute carrier family 25 member 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:50,974,616...51,002,970
Ensembl chr14:50,974,617...50,978,039
G
SLC7A4
solute carrier family 7 member 4
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:50,631,693...50,638,381
Ensembl chr14:50,633,878...50,637,404
G
SNAP29
synaptosome associated protein 29
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:50,492,187...50,511,475
Ensembl chr14:50,492,187...50,511,456
G
TANGO2
transport and golgi organization 2 homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:51,443,597...51,464,370
Ensembl chr14:51,443,638...51,464,367
G
TBX1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
G
THAP7
THAP domain containing 7
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:50,591,412...50,593,778
Ensembl chr14:50,591,410...50,594,105
G
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 chr14:50,378,957...50,383,573
G
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 chr14:50,020,412...50,037,854
Ensembl chr14:50,020,509...50,037,856
G
TRMT2A
tRNA methyltransferase 2 homolog A
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:51,489,889...51,494,204
Ensembl chr14:51,489,892...51,494,190
G
TSSK2
testis specific serine kinase 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:50,943,017...50,944,093
Ensembl chr14:50,943,017...50,944,093
G
TXNRD2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:51,355,731...51,385,096
Ensembl chr14:51,356,831...51,383,262
G
UBE2L3
ubiquitin conjugating enzyme E2 L3
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr14:50,265,102...50,315,409
G
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 chr14:51,113,858...51,132,820
Ensembl chr14:51,113,713...51,133,072
G
VPREB1
V-set pre-B cell surrogate light chain 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr14:49,972,058...49,972,768
Ensembl chr14:49,970,340...49,972,741
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 chr14:50,260,813...50,262,553
Ensembl chr14:50,260,788...50,262,550
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 chr14:50,190,641...50,208,732
Ensembl chr14:50,190,798...50,208,256
G
ZDHHC8
zinc finger DHHC-type palmitoyltransferase 8
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:51,503,074...51,517,577
Ensembl chr14:51,503,114...51,516,885
G
ZNF74
zinc finger protein 74
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr14:50,840,500...50,869,945
Ensembl chr14:50,840,510...50,869,489
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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 chr14:50,562,611...50,576,273
Ensembl chr14:50,562,776...50,576,275
G
ARVCF
ARVCF delta catenin family member
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:51,403,215...51,440,036
Ensembl chr14:51,403,923...51,440,058
G
C14H22orf39
chromosome 14 C22orf39 homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:51,106,984...51,112,385
Ensembl chr14:51,106,991...51,112,359
G
CCDC188
coiled-coil domain containing 188
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:51,517,669...51,520,622
Ensembl chr14:51,517,234...51,520,622
G
CDC45
cell division cycle 45
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606
G
CLDN5
claudin 5
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:51,161,490...51,162,382
Ensembl chr14:51,161,042...51,163,482
G
COMT
catechol-O-methyltransferase
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
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 chr14:50,528,950...50,558,664
Ensembl chr14:50,528,955...50,558,662
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 chr14:50,881,260...50,935,603
Ensembl chr14:50,877,872...50,935,564
G
DGCR6L
DiGeorge syndrome critical region gene 6 like
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:51,644,840...51,657,368
G
DGCR8
DGCR8 microprocessor complex subunit
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:51,473,512...51,489,535
Ensembl chr14:51,469,178...51,489,529
G
ESS2
ess-2 splicing factor homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:50,945,121...50,956,018
Ensembl chr14:50,945,122...50,955,983
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 chr14:51,306,561...51,343,040
Ensembl chr14:51,305,039...51,343,029
G
GP1BB
glycoprotein Ib platelet subunit beta
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114
G
GSC2
goosecoid homeobox 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:50,956,315...50,960,424
Ensembl chr14:50,957,991...50,960,193
G
HIRA
histone cell cycle regulator
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:51,029,117...51,102,409
Ensembl chr14:51,029,126...51,102,409
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KLHL22
kelch like family member 22
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:50,773,917...50,809,991
Ensembl chr14:50,773,964...50,809,986
G
LRRC74B
leucine rich repeat containing 74B
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:50,602,524...50,623,367
Ensembl chr14:50,602,701...50,623,116
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 chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397
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MED15
mediator complex subunit 15
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:50,703,010...50,759,310
Ensembl chr14:50,703,019...50,759,310
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MIR1306
microRNA mir-1306
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:51,473,918...51,473,997
Ensembl chr14:51,473,918...51,473,997
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MIR185
microRNA mir-185
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:51,449,903...51,449,978
Ensembl chr14:51,449,903...51,449,978
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MRPL40
mitochondrial ribosomal protein L40
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:51,102,900...51,105,769
Ensembl chr14:51,102,613...51,105,767
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P2RX6
purinergic receptor P2X 6
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:50,595,876...50,633,536
Ensembl chr14:50,622,938...50,633,535
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PI4KA
phosphatidylinositol 4-kinase alpha
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:50,390,416...50,491,983
Ensembl chr14:50,390,410...50,491,944
G
RANBP1
RAN binding protein 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:51,494,258...51,500,420
Ensembl chr14:51,494,359...51,500,417
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RTL10
retrotransposon Gag like 10
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:51,338,134...51,342,383
G
RTN4R
reticulon 4 receptor
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:51,579,043...51,603,180
Ensembl chr14:51,579,046...51,602,968
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SCARF2
scavenger receptor class F member 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:50,813,161...50,824,434
Ensembl chr14:50,812,984...50,824,521
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SEPTIN5
septin 5
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:51,252,815...51,260,851
Ensembl chr14:51,252,815...51,261,244
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SERPIND1
serpin family D member 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:50,427,121...50,436,470
Ensembl chr14:50,427,115...50,436,468
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SLC25A1
solute carrier family 25 member 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:50,974,616...51,002,970
Ensembl chr14:50,974,617...50,978,039
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SLC7A4
solute carrier family 7 member 4
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:50,631,693...50,638,381
Ensembl chr14:50,633,878...50,637,404
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SNAP29
synaptosome associated protein 29
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:50,492,187...50,511,475
Ensembl chr14:50,492,187...50,511,456
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TANGO2
transport and golgi organization 2 homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:51,443,597...51,464,370
Ensembl chr14:51,443,638...51,464,367
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TBX1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
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THAP7
THAP domain containing 7
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:50,591,412...50,593,778
Ensembl chr14:50,591,410...50,594,105
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TRMT2A
tRNA methyltransferase 2 homolog A
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:51,489,889...51,494,204
Ensembl chr14:51,489,892...51,494,190
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TSSK2
testis specific serine kinase 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:50,943,017...50,944,093
Ensembl chr14:50,943,017...50,944,093
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TXNRD2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:51,355,731...51,385,096
Ensembl chr14:51,356,831...51,383,262
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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 chr14:51,113,858...51,132,820
Ensembl chr14:51,113,713...51,133,072
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ZDHHC8
zinc finger DHHC-type palmitoyltransferase 8
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:51,503,074...51,517,577
Ensembl chr14:51,503,114...51,516,885
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ZNF74
zinc finger protein 74
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr14:50,840,500...50,869,945
Ensembl chr14:50,840,510...50,869,489
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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 chr14:50,562,611...50,576,273
Ensembl chr14:50,562,776...50,576,275
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ALDH1A2
aldehyde dehydrogenase 1 family member A2
ISO
OMIM:188400
RGD MouseDO
PMID:12563036
RGD:734550
NCBI chr 1:113,932,722...114,037,059
Ensembl chr 1:113,932,739...114,037,046
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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: 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 chr14:51,403,215...51,440,036
Ensembl chr14:51,403,923...51,440,058
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BCR
BCR activator of RhoGEF and GTPase
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr14:49,208,662...49,322,109
Ensembl chr14:49,208,762...49,322,103
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C14H22orf39
chromosome 14 C22orf39 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 chr14:51,106,984...51,112,385
Ensembl chr14:51,106,991...51,112,359
G
CCDC116
coiled-coil domain containing 116
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr14:50,255,859...50,260,743
G
CCDC188
coiled-coil domain containing 188
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome
ClinVar
NCBI chr14:51,517,669...51,520,622
Ensembl chr14:51,517,234...51,520,622
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 chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606
G
CHRD
chordin
ISO
OMIM:188400
MouseDO
NCBI chr13:122,266,632...122,277,513
Ensembl chr13:122,266,626...122,277,645
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 chr14:51,161,490...51,162,382
Ensembl chr14:51,161,042...51,163,482
G
COMT
catechol-O-methyltransferase
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 chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
G
CRKL
CRK like proto-oncogene, adaptor protein
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 chr14:50,528,950...50,558,664
Ensembl chr14:50,528,955...50,558,662
G
DGCR2
DiGeorge syndrome critical region gene 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 chr14:50,881,260...50,935,603
Ensembl chr14:50,877,872...50,935,564
G
DGCR6L
DiGeorge syndrome critical region gene 6 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 chr14:51,644,840...51,657,368
G
DGCR8
DGCR8 microprocessor complex subunit
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 chr14:51,473,512...51,489,535
Ensembl chr14:51,469,178...51,489,529
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DICER1
dicer 1, ribonuclease III
ISO
OMIM:188400
MouseDO
NCBI chr 7:116,361,630...116,436,471
Ensembl chr 7:116,365,802...116,411,224
G
DOCK1
dedicator of cytokinesis 1
ISO
OMIM:188400
MouseDO
NCBI chr14:136,199,747...136,745,488
Ensembl chr14:136,257,807...136,741,882
G
DVL1
dishevelled segment polarity protein 1
ISO
RGD
PMID:8644734
RGD:1580898
NCBI chr 6:63,617,787...63,628,965
Ensembl chr 6:63,617,789...63,628,913
G
ESS2
ess-2 splicing factor 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 chr14:50,945,121...50,956,018
Ensembl chr14:50,945,122...50,955,983
G
FGF8
fibroblast growth factor 8
ISO
CTD Direct Evidence: marker/mechanism OMIM:188400
CTD MouseDO
PMID:16399080
NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248
G
FOXN1
forkhead box N1
ISO
OMIM:188400
MouseDO
NCBI chr12:44,764,427...44,796,138
Ensembl chr12:44,765,258...44,795,260
G
GGT1
gamma-glutamyltransferase 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:31690835 PMID:32581362
NCBI chr14:49,618,737...49,638,054
G
GNAZ
G protein subunit alpha z
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr14:49,132,012...49,174,114
Ensembl chr14:49,132,013...49,174,108
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 chr14:51,306,561...51,343,040
Ensembl chr14:51,305,039...51,343,029
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 chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114
G
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 chr14:50,956,315...50,960,424
Ensembl chr14:50,957,991...50,960,193
G
HIC2
HIC ZBTB transcriptional repressor 2
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr14:50,347,575...50,373,007
Ensembl chr14:50,365,851...50,368,634
G
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 chr14:51,029,117...51,102,409
Ensembl chr14:51,029,126...51,102,409
G
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 chr14:40,868,819...40,888,322
Ensembl chr14:40,868,676...40,888,328
G
HOXA3
homeobox A3
ISO
OMIM:188400
MouseDO
NCBI chr18:45,421,542...45,467,803
Ensembl chr18:45,454,213...45,466,537
G
KAT6A
lysine acetyltransferase 6A
ISO
OMIM:188400
RGD MouseDO
PMID:22921202
RGD:9590333
NCBI chr17:11,002,818...11,109,974
G
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 chr14:50,773,917...50,809,991
Ensembl chr14:50,773,964...50,809,986
G
LOC100153093
RIMS-binding protein 3A
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr14:50,323,037...50,331,111
G
LOC100523213
immunoglobulin lambda-like polypeptide 5
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr14:49,951,542...49,960,517
G
LOC110256626
proline dehydrogenase 1, mitochondrial
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 chr14:51,624,919...51,644,467
G
LOC110256677
zinc finger protein 280A-like
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr14:48,882,955...48,888,138
G
LRRC74B
leucine rich repeat containing 74B
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome
ClinVar
NCBI chr14:50,602,524...50,623,367
Ensembl chr14:50,602,701...50,623,116
G
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 chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397
G
MAPK1
mitogen-activated protein kinase 1
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513
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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 chr14:50,703,010...50,759,310
Ensembl chr14:50,703,019...50,759,310
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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 5:69,887,884...70,132,969
Ensembl chr 5:69,887,892...70,059,494
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MIR1306
microRNA mir-1306
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome
ClinVar
NCBI chr14:51,473,918...51,473,997
Ensembl chr14:51,473,918...51,473,997
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MIR185
microRNA mir-185
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome
ClinVar
NCBI chr14:51,449,903...51,449,978
Ensembl chr14:51,449,903...51,449,978
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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 chr14:51,102,900...51,105,769
Ensembl chr14:51,102,613...51,105,767
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NDST1
N-deacetylase and N-sulfotransferase 1
ISO
OMIM:188400
MouseDO
NCBI chr 2:151,433,925...151,525,909
Ensembl chr 2:151,489,521...151,522,749
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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 chr14:50,595,876...50,633,536
Ensembl chr14:50,622,938...50,633,535
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PEX26
peroxisomal biogenesis factor 26
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr 5:70,133,024...70,142,515
Ensembl chr 5:70,133,024...70,142,503
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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 chr14:50,390,416...50,491,983
Ensembl chr14:50,390,410...50,491,944
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PLXND1
plexin D1
ISO
OMIM:188400
MouseDO
NCBI chr13:68,946,658...68,996,625
Ensembl chr13:68,946,665...68,996,618
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PPIL2
peptidylprolyl isomerase like 2
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr14:50,206,807...50,232,845
Ensembl chr14:50,208,374...50,232,830
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PPM1F
protein phosphatase, Mg2+/Mn2+ dependent 1F
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr14:50,040,612...50,083,047
Ensembl chr14:50,040,663...50,063,325
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PRAME
PRAME nuclear receptor transcriptional regulator
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr14:48,901,097...48,906,855
Ensembl chr14:48,899,343...48,911,231
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RAB36
RAB36, member RAS oncogene family
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr14:49,186,282...49,202,334
Ensembl chr14:49,188,360...49,204,656
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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 chr14:51,494,258...51,500,420
Ensembl chr14:51,494,359...51,500,417
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RSPH14
radial spoke head 14 homolog
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr14:49,123,934...49,186,157
Ensembl chr14:49,123,935...49,184,735
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RTL10
retrotransposon Gag like 10
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 chr14:51,338,134...51,342,383
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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 chr14:51,579,043...51,603,180
Ensembl chr14:51,579,046...51,602,968
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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 chr14:50,813,161...50,824,434
Ensembl chr14:50,812,984...50,824,521
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SDF2L1
stromal cell derived factor 2 like 1
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr14:50,249,607...50,251,636
Ensembl chr14:50,246,710...50,251,642
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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 chr14:51,252,815...51,260,851
Ensembl chr14:51,252,815...51,261,244
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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 chr14:50,427,121...50,436,470
Ensembl chr14:50,427,115...50,436,468
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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 chr14:50,974,616...51,002,970
Ensembl chr14:50,974,617...50,978,039
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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 chr14:50,631,693...50,638,381
Ensembl chr14:50,633,878...50,637,404
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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 chr14:50,492,187...50,511,475
Ensembl chr14:50,492,187...50,511,456
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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 chr14:49,332,937...49,463,965
Ensembl chr14:49,333,009...49,463,963
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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 chr14:51,443,597...51,464,370
Ensembl chr14:51,443,638...51,464,367
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TBX1
T-box transcription factor 1
ISO
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 ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Autosomal dominant Opitz G/BBB 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 ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Catch22 | 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 ClinVar
PMID:9536098 PMID:11239417 PMID:11242049 PMID:11748311 PMID:14585638 PMID:15060116 PMID:15355425 PMID:15703190 PMID:16199547 PMID:17273972 PMID:17576681 PMID:18375573 PMID:19948535 PMID:20453311 PMID:20937753 PMID:21921585 PMID:24033266 PMID:24637876 PMID:24826987 PMID:24998776 PMID:25205790 PMID:25516202 PMID:25640679 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 More...
NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
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TGFBR2
transforming growth factor beta receptor 2
ISO
OMIM:188400
MouseDO
NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160
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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 chr14:50,591,412...50,593,778
Ensembl chr14:50,591,410...50,594,105
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TMEM191C
transmembrane protein 191C
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr14:50,378,957...50,383,573
G
TOP3B
DNA topoisomerase III beta
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr14:50,020,412...50,037,854
Ensembl chr14:50,020,509...50,037,856
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TP53
tumor protein p53
ISO
RGD
PMID:25197075
RGD:155641238
NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
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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 chr14:51,489,889...51,494,204
Ensembl chr14:51,489,892...51,494,190
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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 chr14:50,943,017...50,944,093
Ensembl chr14:50,943,017...50,944,093
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TUBA8
tubulin alpha 8
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr 5:70,154,251...70,174,001
Ensembl chr 5:70,153,922...70,179,970
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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 chr14:51,355,731...51,385,096
Ensembl chr14:51,356,831...51,383,262
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UBE2L3
ubiquitin conjugating enzyme E2 L3
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr14:50,265,102...50,315,409
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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
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 chr14:51,113,858...51,132,820
Ensembl chr14:51,113,713...51,133,072
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USP18
ubiquitin specific peptidase 18
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr 5:70,183,321...70,227,990
Ensembl chr 5:70,183,308...70,229,572
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VEGFA
vascular endothelial growth factor A
ISO
OMIM:188400
MouseDO
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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VPREB1
V-set pre-B cell surrogate light chain 1
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr14:49,972,058...49,972,768
Ensembl chr14:49,970,340...49,972,741
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YDJC
YdjC chitooligosaccharide deacetylase homolog
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr14:50,260,813...50,262,553
Ensembl chr14:50,260,788...50,262,550
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YPEL1
yippee like 1
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr14:50,190,641...50,208,732
Ensembl chr14:50,190,798...50,208,256
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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 chr14:51,503,074...51,517,577
Ensembl chr14:51,503,114...51,516,885
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ZNF366
zinc finger protein 366
ISO
OMIM:188400
MouseDO
NCBI chr16:48,708,604...49,048,767
Ensembl chr16:48,708,610...48,780,941
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ZNF74
zinc finger protein 74
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 chr14:50,840,500...50,869,945
Ensembl chr14:50,840,510...50,869,489
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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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 chr10:53,602,929...53,957,869
Ensembl chr10:53,602,936...53,958,047
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
TBX1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: Conotruncal anomaly face syndrome
ClinVar
PMID:14585638 PMID:15703190 PMID:17273972
NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chr14:50,562,611...50,576,273
Ensembl chr14:50,562,776...50,576,275
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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 chr14:51,403,215...51,440,036
Ensembl chr14:51,403,923...51,440,058
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C14H22orf39
chromosome 14 C22orf39 homolog
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr14:51,106,984...51,112,385
Ensembl chr14:51,106,991...51,112,359
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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 chr14:51,517,669...51,520,622
Ensembl chr14:51,517,234...51,520,622
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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 chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606
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CHRD
chordin
ISO
OMIM:192430
MouseDO
NCBI chr13:122,266,632...122,277,513
Ensembl chr13:122,266,626...122,277,645
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CLDN5
claudin 5
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr14:51,161,490...51,162,382
Ensembl chr14:51,161,042...51,163,482
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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 chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
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CRKL
CRK like proto-oncogene, adaptor protein
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr14:50,528,950...50,558,664
Ensembl chr14:50,528,955...50,558,662
G
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 chr14:50,881,260...50,935,603
Ensembl chr14:50,877,872...50,935,564
G
DGCR6L
DiGeorge syndrome critical region gene 6 like
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr14:51,644,840...51,657,368
G
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 chr14:51,473,512...51,489,535
Ensembl chr14:51,469,178...51,489,529
G
EDNRA
endothelin receptor type A
ISO
OMIM:192430
MouseDO
NCBI chr 8:81,210,750...81,279,053
Ensembl chr 8:81,209,327...81,276,853
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 chr14:50,945,121...50,956,018
Ensembl chr14:50,945,122...50,955,983
G
GGT1
gamma-glutamyltransferase 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome
ClinVar
NCBI chr14:49,618,737...49,638,054
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 chr14:51,306,561...51,343,040
Ensembl chr14:51,305,039...51,343,029
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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 chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114
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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 chr14:50,956,315...50,960,424
Ensembl chr14:50,957,991...50,960,193
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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 chr14:51,029,117...51,102,409
Ensembl chr14:51,029,126...51,102,409
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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: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr14:50,773,917...50,809,991
Ensembl chr14:50,773,964...50,809,986
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LOC110256626
proline dehydrogenase 1, mitochondrial
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome
ClinVar
NCBI chr14:51,624,919...51,644,467
G
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 chr14:50,602,524...50,623,367
Ensembl chr14:50,602,701...50,623,116
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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: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397
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MAPK1
mitogen-activated protein kinase 1
ISO
OMIM:192430
MouseDO
NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513
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 chr14:50,703,010...50,759,310
Ensembl chr14:50,703,019...50,759,310
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MIR1306
microRNA mir-1306
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr14:51,473,918...51,473,997
Ensembl chr14:51,473,918...51,473,997
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MIR185
microRNA mir-185
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr14:51,449,903...51,449,978
Ensembl chr14:51,449,903...51,449,978
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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 chr14:51,102,900...51,105,769
Ensembl chr14:51,102,613...51,105,767
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 chr14:50,595,876...50,633,536
Ensembl chr14:50,622,938...50,633,535
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 chr14:50,390,416...50,491,983
Ensembl chr14:50,390,410...50,491,944
G
PRICKLE1
prickle planar cell polarity protein 1
ISO
OMIM:192430
MouseDO
NCBI chr 5:73,707,026...73,826,529
Ensembl chr 5:73,707,050...73,826,430
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 chr14:51,494,258...51,500,420
Ensembl chr14:51,494,359...51,500,417
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RTL10
retrotransposon Gag like 10
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr14:51,338,134...51,342,383
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 chr14:51,579,043...51,603,180
Ensembl chr14:51,579,046...51,602,968
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 chr14:50,813,161...50,824,434
Ensembl chr14:50,812,984...50,824,521
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SEPTIN5
septin 5
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr14:51,252,815...51,260,851
Ensembl chr14:51,252,815...51,261,244
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 chr14:50,427,121...50,436,470
Ensembl chr14:50,427,115...50,436,468
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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: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr14:50,974,616...51,002,970
Ensembl chr14:50,974,617...50,978,039
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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: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr14:50,631,693...50,638,381
Ensembl chr14:50,633,878...50,637,404
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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 chr14:50,492,187...50,511,475
Ensembl chr14:50,492,187...50,511,456
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 chr14:51,443,597...51,464,370
Ensembl chr14:51,443,638...51,464,367
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TBX1
T-box transcription factor 1
ISO
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 ClinVar
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 More...
NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
G
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 chr14:50,591,412...50,593,778
Ensembl chr14:50,591,410...50,594,105
G
TRAPPC10
trafficking protein particle complex subunit 10
ISO
OMIM:192430
MouseDO
NCBI chr13:206,936,311...207,013,112
Ensembl chr13:206,936,333...207,013,102
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 chr14:51,489,889...51,494,204
Ensembl chr14:51,489,892...51,494,190
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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: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr14:50,943,017...50,944,093
Ensembl chr14:50,943,017...50,944,093
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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 chr14:51,355,731...51,385,096
Ensembl chr14:51,356,831...51,383,262
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 chr14:51,113,858...51,132,820
Ensembl chr14:51,113,713...51,133,072
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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: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr14:51,503,074...51,517,577
Ensembl chr14:51,503,114...51,516,885
G
ZNF74
zinc finger protein 74
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr14:50,840,500...50,869,945
Ensembl chr14:50,840,510...50,869,489
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