RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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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Term: | Monosomy |
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Accession: | DOID:9004684
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browse the term
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Definition: | The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1. |
Synonyms: | exact_synonym: | Monosomies |
| primary_id: | MESH:D009006 |
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4930451I11Rik |
RIKEN cDNA 4930451I11 gene |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:126,429,640...126,430,712
Ensembl chr 7:126,429,640...126,430,811
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AI467606 |
expressed sequence AI467606 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:126,689,952...126,693,221
Ensembl chr 7:126,690,531...126,693,158
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Aldoa |
aldolase A, fructose-bisphosphate |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 |
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NCBI chr 7:126,394,406...126,399,537
Ensembl chr 7:126,394,406...126,399,923 Ensembl chr 7:126,394,406...126,399,923
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Asphd1 |
aspartate beta-hydroxylase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:126,545,159...126,548,754
Ensembl chr 7:126,544,739...126,548,754
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Atp2a1 |
ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 7:126,045,032...126,062,245
Ensembl chr 7:126,045,030...126,062,280
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Atxn2l |
ataxin 2-like |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 7:126,090,880...126,106,991
Ensembl chr 7:126,090,880...126,102,609
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Bola2 |
bolA family member 2 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
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NCBI chr 7:126,295,172...126,295,865
Ensembl chr 7:126,294,573...126,298,970
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Cd19 |
CD19 antigen |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 7:126,007,620...126,016,401
Ensembl chr 7:126,007,622...126,014,061
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Cdipt |
CDP-diacylglycerol--inositol 3-phosphatidyltransferase |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:126,575,630...126,579,671
Ensembl chr 7:126,575,086...126,579,673
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Cdiptos |
CDIP transferase, opposite strand |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 |
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NCBI chr 7:126,571,792...126,575,575
Ensembl chr 7:126,570,894...126,575,270
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Coro1a |
coronin, actin binding protein 1A |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:126,298,946...126,303,925
Ensembl chr 7:126,298,945...126,306,959
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Doc2a |
double C2, alpha |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:126,446,525...126,451,877
Ensembl chr 7:126,446,588...126,451,877
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Eif3c |
eukaryotic translation initiation factor 3, subunit C |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 7:126,146,083...126,165,538
Ensembl chr 7:126,145,627...126,165,583
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Gdpd3 |
glycerophosphodiester phosphodiesterase domain containing 3 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:126,365,586...126,374,817
Ensembl chr 7:126,365,506...126,374,821
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Hirip3 |
HIRA interacting protein 3 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:126,461,155...126,464,549
Ensembl chr 7:126,461,144...126,464,549
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Ino80e |
INO80 complex subunit E |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:126,450,756...126,461,544
Ensembl chr 7:126,450,132...126,461,549
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Kctd13 |
potassium channel tetramerisation domain containing 13 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:126,528,051...126,544,781
Ensembl chr 7:126,528,051...126,544,803
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Kif22 |
kinesin family member 22 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:126,626,901...126,641,639
Ensembl chr 7:126,626,901...126,641,643
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Lat |
linker for activation of T cells |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 7:125,962,999...125,968,877
Ensembl chr 7:125,962,996...125,968,742
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Mapk3 |
mitogen-activated protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:126,358,798...126,364,988
Ensembl chr 7:126,358,773...126,364,991
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Maz |
MYC-associated zinc finger protein (purine-binding transcription factor) |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:126,621,306...126,626,177
Ensembl chr 7:126,621,302...126,626,209
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Mvp |
major vault protein |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:126,586,032...126,613,766
Ensembl chr 7:126,586,032...126,613,793
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Nfatc2ip |
nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 2 interacting protein |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 7:125,982,025...125,995,909
Ensembl chr 7:125,982,026...125,995,909
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Pagr1a |
PAXIP1 associated glutamate rich protein 1A |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:126,614,223...126,616,524
Ensembl chr 7:126,614,205...126,616,524 Ensembl chr 7:126,614,205...126,616,524
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Ppp4c |
protein phosphatase 4, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:126,385,038...126,391,729
Ensembl chr 7:126,385,038...126,391,668
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Prrt2 |
proline-rich transmembrane protein 2 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:126,616,707...126,620,800
Ensembl chr 7:126,616,703...126,620,383
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Qprt |
quinolinate phosphoribosyltransferase |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:126,706,942...126,721,201
Ensembl chr 7:126,706,286...126,721,398
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Rabep2 |
rabaptin, RAB GTPase binding effector protein 2 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 7:126,027,596...126,045,079
Ensembl chr 7:126,027,931...126,048,417
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Sez6l2 |
seizure related 6 homolog like 2 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:126,549,665...126,569,782
Ensembl chr 7:126,549,735...126,569,778
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Sftpa1 |
surfactant associated protein A1 |
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ISO |
ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 |
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NCBI chr14:40,853,745...40,858,330
Ensembl chr14:40,853,739...40,858,409
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Sh2b1 |
SH2B adaptor protein 1 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 7:126,066,165...126,075,882
Ensembl chr 7:126,066,166...126,074,596
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Slx1b |
SLX1 structure-specific endonuclease subunit homolog B (S. cerevisiae) |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 7:126,288,099...126,294,955
Ensembl chr 7:126,288,640...126,294,956
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Spn |
sialophorin |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:126,731,404...126,743,785
Ensembl chr 7:126,731,404...126,736,995
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Spns1 |
SPNS lysolipid transporter 1, lysophospholipid |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 7:125,969,232...125,977,179
Ensembl chr 7:125,969,232...125,976,622
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Taok2 |
TAO kinase 2 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:126,464,848...126,485,468
Ensembl chr 7:126,464,850...126,483,875
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Tbx6 |
T-box 6 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:126,380,655...126,384,720
Ensembl chr 7:126,380,655...126,384,732
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Tlcd3b |
TLC domain containing 3B |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:126,413,213...126,429,391
Ensembl chr 7:126,396,840...126,429,391
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Tmem219 |
transmembrane protein 219 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:126,485,391...126,527,993
Ensembl chr 7:126,485,343...126,522,089
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Tufm |
Tu translation elongation factor, mitochondrial |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 7:126,086,445...126,089,903
Ensembl chr 7:126,086,533...126,089,903
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Ypel3 |
yippee like 3 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:126,376,135...126,379,682
Ensembl chr 7:126,376,127...126,379,686
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Zg16 |
zymogen granule protein 16 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:126,649,328...126,651,847
Ensembl chr 7:126,649,328...126,686,500
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1700018B08Rik |
RIKEN cDNA 1700018B08 gene |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 8:122,257,515...122,271,077
Ensembl chr 8:122,257,519...122,271,059
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Acsf3 |
acyl-CoA synthetase family member 3 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 8:123,502,209...123,544,626
Ensembl chr 8:123,502,225...123,544,619
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Ankrd11 |
ankyrin repeat domain 11 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 8:123,610,060...123,769,023
Ensembl chr 8:123,610,561...123,769,016
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Aprt |
adenine phosphoribosyl transferase |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 8:123,301,376...123,303,646
Ensembl chr 8:123,301,374...123,303,648
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Banp |
BTG3 associated nuclear protein |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 8:122,674,711...122,755,999
Ensembl chr 8:122,676,489...122,755,997
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Car5a |
carbonic anhydrase 5a, mitochondrial |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 8:122,642,874...122,671,651
Ensembl chr 8:122,642,865...122,671,643
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Cbfa2t3 |
CBFA2/RUNX1 translocation partner 3 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 8:123,351,875...123,426,069
Ensembl chr 8:123,351,880...123,425,848
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Cdh15 |
cadherin 15 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 8:123,575,113...123,594,136
Ensembl chr 8:123,574,705...123,594,136
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Cdt1 |
chromatin licensing and DNA replication factor 1 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 8:123,294,754...123,299,869
Ensembl chr 8:123,294,754...123,300,293
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Cpne7 |
copine VII |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 8:123,844,054...123,861,924
Ensembl chr 8:123,844,113...123,861,921
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Ctu2 |
cytosolic thiouridylase subunit 2 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 8:123,202,882...123,209,831
Ensembl chr 8:123,202,882...123,210,877
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Cyba |
cytochrome b-245, alpha polypeptide |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669
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Fbxo31 |
F-box protein 31 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 8:122,276,182...122,305,607
Ensembl chr 8:122,276,179...122,305,545
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Galns |
galactosamine (N-acetyl)-6-sulfatase |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 8:123,304,976...123,338,226
Ensembl chr 8:123,304,981...123,338,202
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Il17c |
interleukin 17C |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 8:123,147,912...123,150,820
Ensembl chr 8:123,148,759...123,150,378
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Jph3 |
junctophilin 3 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 8:122,457,298...122,517,822
Ensembl chr 8:122,456,362...122,521,015
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Klhdc4 |
kelch domain containing 4 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 8:122,523,047...122,556,322
Ensembl chr 8:122,523,052...122,556,308
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Map1lc3b |
microtubule-associated protein 1 light chain 3 beta |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 8:122,317,177...122,325,499
Ensembl chr 8:122,317,100...122,325,499
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Mvd |
mevalonate (diphospho) decarboxylase |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 8:123,160,335...123,170,161
Ensembl chr 8:123,160,340...123,170,161
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Pabpn1l |
poly(A)binding protein nuclear 1-like |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 8:123,346,210...123,349,474
Ensembl chr 8:123,346,210...123,349,478
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Piezo1 |
piezo-type mechanosensitive ion channel component 1 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068
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G |
Rnf166 |
ring finger protein 166 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr 8:123,192,884...123,202,813
Ensembl chr 8:123,192,886...123,202,803
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G |
Rpl13 |
ribosomal protein L13 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr 8:123,829,089...123,831,983
Ensembl chr 8:123,829,089...123,831,983
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G |
Slc7a5 |
solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
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NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433
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G |
Snai3 |
snail family zinc finger 3 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
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NCBI chr 8:123,180,943...123,187,546
Ensembl chr 8:123,180,947...123,187,472
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G |
Trappc2l |
trafficking protein particle complex 2L |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
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NCBI chr 8:123,338,365...123,342,330
Ensembl chr 8:123,338,379...123,343,399
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G |
Zc3h18 |
zinc finger CCCH-type containing 18 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
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NCBI chr 8:123,103,298...123,144,104
Ensembl chr 8:123,103,348...123,144,099
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G |
Zcchc14 |
zinc finger, CCHC domain containing 14 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
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NCBI chr 8:122,325,442...122,379,662
Ensembl chr 8:122,325,442...122,379,640
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G |
Zfp26 |
zinc finger protein 26 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
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NCBI chr 9:20,338,457...20,371,465
Ensembl chr 9:20,339,745...20,371,458
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G |
Zfp469 |
zinc finger protein 469 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
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NCBI chr 8:122,770,009...122,999,389
Ensembl chr 8:122,985,359...122,999,389
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G |
Zfpm1 |
zinc finger protein, multitype 1 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
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NCBI chr 8:123,008,595...123,064,601
Ensembl chr 8:123,008,880...123,063,990
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G |
4930523C07Rik |
RIKEN cDNA 4930523C07 gene |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
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NCBI chr 1:159,871,950...159,906,157
Ensembl chr 1:159,871,952...159,907,778
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G |
4930558K02Rik |
RIKEN cDNA 4930558K02 gene |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:161,769,658...161,809,940
Ensembl chr 1:161,769,655...161,807,205
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G |
Abl2 |
ABL proto-oncogene 2, non-receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:156,386,160...156,477,189
Ensembl chr 1:156,386,356...156,477,138
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G |
Acbd6 |
acyl-Coenzyme A binding domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:155,433,845...155,564,120
Ensembl chr 1:155,433,866...155,567,076
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G |
Angptl1 |
angiopoietin-like 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:156,666,495...156,688,648
Ensembl chr 1:156,666,132...156,688,648
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G |
Ankrd45 |
ankyrin repeat domain 45 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 1:160,970,017...160,998,077
Ensembl chr 1:160,970,261...160,998,068
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G |
Astn1 |
astrotactin 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:158,189,647...158,519,351
Ensembl chr 1:158,189,843...158,519,351
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G |
Atp1b1 |
ATPase, Na+/K+ transporting, beta 1 polypeptide |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:164,264,668...164,285,924
Ensembl chr 1:164,264,678...164,285,924
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G |
Axdnd1 |
axonemal dynein light chain domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:156,157,985...156,248,743
Ensembl chr 1:156,151,079...156,248,729
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G |
BC034090 |
cDNA sequence BC034090 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:155,088,217...155,123,504
Ensembl chr 1:155,088,217...155,120,190
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G |
Blzf1 |
basic leucine zipper nuclear factor 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:164,117,368...164,135,056
Ensembl chr 1:164,117,369...164,135,058
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G |
Brinp2 |
bone morphogenic protein/retinoic acid inducible neural-specific 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:158,072,835...158,185,096
Ensembl chr 1:158,072,839...158,183,896
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G |
Cacna1e |
calcium channel, voltage-dependent, R type, alpha 1E subunit |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:154,266,552...154,760,374
Ensembl chr 1:154,266,477...154,760,247
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G |
Cacybp |
calcyclin binding protein |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 1:160,029,937...160,040,462
Ensembl chr 1:160,029,937...160,040,445
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G |
Ccdc181 |
coiled-coil domain containing 181 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:164,103,126...164,115,416
Ensembl chr 1:164,103,154...164,115,416
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G |
Cenpl |
centromere protein L |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 1:160,898,337...160,914,294
Ensembl chr 1:160,898,283...160,914,294
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G |
Cep350 |
centrosomal protein 350 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:155,720,710...155,849,001
Ensembl chr 1:155,720,710...155,849,001
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G |
Cop1 |
COP1, E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:159,059,734...159,182,442
Ensembl chr 1:159,059,890...159,175,210
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G |
Dars2 |
aspartyl-tRNA synthetase 2 (mitochondrial) |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 1:160,868,171...160,898,236
Ensembl chr 1:160,868,171...160,898,228
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|
G |
Dhx9 |
DExH-box helicase 9 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:153,331,506...153,363,464
Ensembl chr 1:153,331,504...153,363,406
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G |
Dnm3 |
dynamin 3 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:161,810,022...162,305,890
Ensembl chr 1:161,810,022...162,305,603
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G |
Dnm3os |
dynamin 3, opposite strand |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:162,045,192...162,053,119
Ensembl chr 1:162,045,192...162,053,119
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G |
F5 |
coagulation factor V |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846
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G |
Fam163a |
family with sequence similarity 163, member A |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:155,951,702...156,033,027
Ensembl chr 1:155,951,712...156,032,596
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G |
Fam20b |
FAM20B, glycosaminoglycan xylosylkinase |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:156,506,127...156,547,204
Ensembl chr 1:156,506,102...156,546,656
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G |
Fasl |
Fas ligand |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064
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G |
Firrm |
FIGNL1 interacting regulator of recombination and mitosis |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:163,773,409...163,822,377
Ensembl chr 1:163,773,562...163,822,365
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G |
Fmo1 |
flavin containing monooxygenase 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:162,657,130...162,694,179
Ensembl chr 1:162,657,130...162,694,179
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G |
Fmo2 |
flavin containing monooxygenase 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:162,701,886...162,726,327
Ensembl chr 1:162,701,886...162,726,295
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G |
Fmo3 |
flavin containing monooxygenase 3 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:162,781,368...162,812,097
Ensembl chr 1:162,781,369...162,812,097
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G |
Fmo4 |
flavin containing monooxygenase 4 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:162,620,757...162,643,788
Ensembl chr 1:162,620,757...162,641,541
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G |
Gas5 |
growth arrest specific 5 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 1:160,862,171...160,866,109
Ensembl chr 1:160,861,992...160,866,116
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G |
Glul |
glutamate-ammonia ligase |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:153,775,692...153,785,469
Ensembl chr 1:153,775,690...153,785,469
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G |
Gm6185 |
predicted gene 6185 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 1:161,006,274...161,062,743
Ensembl chr 1:161,004,506...161,062,740
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G |
Gorab |
golgin, RAB6-interacting |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:163,212,472...163,231,238
Ensembl chr 1:163,212,477...163,231,238
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G |
Gpr52 |
G protein-coupled receptor 52 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 1:160,402,287...160,407,274
Ensembl chr 1:160,403,908...160,405,544
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G |
Ier5 |
immediate early response 5 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:154,972,113...154,975,382
Ensembl chr 1:154,972,107...154,975,382
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G |
Kifap3 |
kinesin-associated protein 3 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:163,589,711...163,744,676
Ensembl chr 1:163,607,152...163,744,678
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G |
Klhl20 |
kelch-like 20 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 1:160,915,945...160,959,078
Ensembl chr 1:160,915,945...160,959,081
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G |
Lamc1 |
laminin, gamma 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:153,094,668...153,208,532
Ensembl chr 1:153,094,668...153,208,532
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G |
Lamc2 |
laminin, gamma 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:152,998,502...153,062,193
Ensembl chr 1:152,998,502...153,062,193
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G |
Lhx4 |
LIM homeobox protein 4 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:155,573,777...155,627,481
Ensembl chr 1:155,573,777...155,627,430
|
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G |
Mettl13 |
methyltransferase 13, eEF1A lysine and N-terminal methyltransferase |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:162,359,694...162,376,098
Ensembl chr 1:162,359,696...162,376,120
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G |
Mettl18 |
methyltransferase like 18 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:163,822,458...163,824,812
Ensembl chr 1:163,822,458...163,824,812
|
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G |
Mir199a-2 |
microRNA 199a-2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:162,045,383...162,045,492
Ensembl chr 1:162,045,383...162,045,492
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G |
Mir214 |
microRNA 214 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:162,050,937...162,051,046
Ensembl chr 1:162,050,937...162,051,046
|
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G |
Mr1 |
major histocompatibility complex, class I-related |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:155,003,620...155,022,560
Ensembl chr 1:155,003,023...155,022,560
|
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G |
Mroh9 |
maestro heat-like repeat family member 9 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:162,851,871...162,913,239
Ensembl chr 1:162,851,871...162,913,239
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G |
Mrps14 |
mitochondrial ribosomal protein S14 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 1:160,022,785...160,028,756
Ensembl chr 1:160,022,785...160,029,740
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G |
Myoc |
myocilin |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:162,466,719...162,477,263
Ensembl chr 1:162,466,724...162,477,262
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|
G |
Ncf2 |
neutrophil cytosolic factor 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:152,675,904...152,712,741
Ensembl chr 1:152,675,945...152,712,742
|
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G |
Nme7 |
NME/NM23 family member 7 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:164,135,091...164,264,870
Ensembl chr 1:164,131,690...164,265,294
|
|
G |
Nmnat2 |
nicotinamide nucleotide adenylyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:152,830,532...152,995,012
Ensembl chr 1:152,830,744...152,995,007
|
|
G |
Nphs2 |
nephrosis 2, podocin |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:156,138,105...156,155,605
Ensembl chr 1:156,138,297...156,155,605
|
|
G |
Npl |
N-acetylneuraminate pyruvate lyase |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:153,378,762...153,425,460
Ensembl chr 1:153,378,761...153,425,791
|
|
G |
Ntmt2 |
N-terminal Xaa-Pro-Lys N-methyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:163,529,415...163,552,801
Ensembl chr 1:163,529,825...163,552,801
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|
G |
Pappa2 |
pappalysin 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:158,539,297...158,788,019
Ensembl chr 1:158,539,297...158,808,060
|
|
G |
Pigc |
phosphatidylinositol glycan anchor biosynthesis, class C |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:161,796,757...161,801,029
Ensembl chr 1:161,796,755...161,801,004
|
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G |
Prdx6 |
peroxiredoxin 6 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 1:161,067,682...161,078,780
Ensembl chr 1:161,067,682...161,078,789
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|
G |
Prrc2c |
proline-rich coiled-coil 2C |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:162,499,354...162,568,125
Ensembl chr 1:162,498,294...162,568,125
|
|
G |
Prrx1 |
paired related homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:163,072,688...163,142,714
Ensembl chr 1:163,072,688...163,141,279
|
|
G |
Qsox1 |
quiescin Q6 sulfhydryl oxidase 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:155,653,901...155,688,645
Ensembl chr 1:155,651,775...155,688,635
|
|
G |
Rabgap1l |
RAB GTPase activating protein 1-like |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 1:160,046,744...160,621,046
Ensembl chr 1:160,046,744...160,620,781
|
|
G |
Ralgps2 |
Ral GEF with PH domain and SH3 binding motif 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:156,631,736...156,767,422
Ensembl chr 1:156,631,736...156,767,196
|
|
G |
Rasal2 |
RAS protein activator like 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:156,962,759...157,240,170
Ensembl chr 1:156,962,752...157,240,165
|
|
G |
Rc3h1 |
RING CCCH (C3H) domains 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 1:160,733,981...160,802,546
Ensembl chr 1:160,733,988...160,802,548
|
|
G |
Rgs16 |
regulator of G-protein signaling 16 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:153,616,099...153,621,212
Ensembl chr 1:153,616,095...153,621,214
|
|
G |
Rgs8 |
regulator of G-protein signaling 8 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:153,528,612...153,573,415
Ensembl chr 1:153,528,771...153,576,069
|
|
G |
Rgsl1 |
regulator of G-protein signaling like 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:153,653,675...153,723,087
Ensembl chr 1:153,655,127...153,719,888
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|
G |
Rnasel |
ribonuclease L (2', 5'-oligoisoadenylate synthetase-dependent) |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:153,625,089...153,644,441
Ensembl chr 1:153,625,172...153,639,967
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|
G |
Scyl3 |
SCY1-like 3 (S. cerevisiae) |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:163,756,669...163,782,695
Ensembl chr 1:163,756,669...163,782,695
|
|
G |
Sec16b |
SEC16 homolog B, endoplasmic reticulum export factor |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:157,334,303...157,395,995
Ensembl chr 1:157,334,298...157,395,995
|
|
G |
Sele |
selectin, endothelial cell |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:163,867,200...163,886,056
Ensembl chr 1:163,875,773...163,885,246
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|
G |
Sell |
selectin, lymphocyte |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:163,889,556...163,908,354
Ensembl chr 1:163,889,551...163,911,750
|
|
G |
Selp |
selectin, platelet |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:163,942,833...163,977,595
Ensembl chr 1:163,942,833...163,977,595
|
|
G |
Serpinc1 |
serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 1:160,806,153...160,830,113
Ensembl chr 1:160,806,155...160,833,433
|
|
G |
Shcbp1l |
Shc SH2-domain binding protein 1-like |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:153,300,846...153,328,320
Ensembl chr 1:153,300,908...153,328,320
|
|
G |
Slc19a2 |
solute carrier family 19 (thiamine transporter), member 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:164,076,615...164,092,954
Ensembl chr 1:164,076,615...164,092,954
|
|
G |
Smg7 |
SMG7 nonsense mediated mRNA decay factor |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:152,712,746...152,783,212
Ensembl chr 1:152,712,746...152,778,397
|
|
G |
Soat1 |
sterol O-acyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:156,255,678...156,301,898
Ensembl chr 1:156,252,095...156,301,901
|
|
G |
Stx6 |
syntaxin 6 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:155,034,374...155,083,405
Ensembl chr 1:155,034,461...155,084,002
|
|
G |
Suco |
SUN domain containing ossification factor |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:161,643,681...161,704,506
Ensembl chr 1:161,643,683...161,704,251
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|
G |
Tdrd5 |
tudor domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:156,082,866...156,131,874
Ensembl chr 1:156,082,866...156,131,234
|
|
G |
Teddm1b |
transmembrane epididymal protein 1B |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:153,750,089...153,752,622
Ensembl chr 1:153,750,091...153,752,617
|
|
G |
Tex35 |
testis expressed 35 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:156,926,711...156,938,506
Ensembl chr 1:156,926,709...156,936,250
|
|
G |
Tnfsf18 |
tumor necrosis factor (ligand) superfamily, member 18 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 1:161,322,221...161,333,903
Ensembl chr 1:161,322,224...161,332,859
|
|
G |
Tnfsf4 |
tumor necrosis factor (ligand) superfamily, member 4 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 1:161,223,009...161,245,777
Ensembl chr 1:161,222,980...161,245,981
|
|
G |
Tnn |
tenascin N |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 1:159,912,599...159,981,242
Ensembl chr 1:159,912,599...159,981,150
|
|
G |
Tnr |
tenascin R |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 1:159,351,170...159,759,299
Ensembl chr 1:159,351,339...159,759,299
|
|
G |
Tor1aip1 |
torsin A interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:155,880,328...155,912,226
Ensembl chr 1:155,880,345...155,912,226
|
|
G |
Tor1aip2 |
torsin A interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:155,911,410...155,944,607
Ensembl chr 1:155,911,149...155,944,607
|
|
G |
Tor3a |
torsin family 3, member A |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:156,481,187...156,501,909
Ensembl chr 1:156,481,187...156,501,926
|
|
G |
Vamp4 |
vesicle-associated membrane protein 4 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:162,398,084...162,426,651
Ensembl chr 1:162,398,084...162,426,653
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|
G |
Xpr1 |
xenotropic and polytropic retrovirus receptor 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:155,151,403...155,293,190
Ensembl chr 1:155,151,447...155,293,161
|
|
G |
Zbtb37 |
zinc finger and BTB domain containing 37 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 1:160,830,492...160,862,432
Ensembl chr 1:160,830,492...160,862,419
|
|
G |
Zfp648 |
zinc finger protein 648 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:154,076,933...154,088,955
Ensembl chr 1:154,076,933...154,081,435
|
|
|
G |
Fgf8 |
fibroblast growth factor 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12223415 |
|
NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354
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|
G |
Six1 |
sine oculis-related homeobox 1 |
|
IMP |
|
RGD |
PMID:21364285 |
RGD:11561941 |
NCBI chr12:73,088,601...73,093,486
Ensembl chr12:73,086,789...73,100,661
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G |
Tbx1 |
T-box 1 |
|
IMP |
|
RGD |
PMID:16452092 |
RGD:155663362 |
NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421
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|
|
G |
4930590J08Rik |
RIKEN cDNA 4930590J08 gene |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 6:91,877,732...91,928,717
Ensembl chr 6:91,879,790...91,927,706
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G |
Ankrd28 |
ankyrin repeat domain 28 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr14:31,418,687...31,552,374
Ensembl chr14:31,420,725...31,552,608
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G |
Btd |
biotinidase |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr14:31,363,014...31,390,154
Ensembl chr14:31,362,985...31,390,536
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G |
Capn7 |
calpain 7 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr14:31,058,582...31,093,944
Ensembl chr14:31,058,595...31,093,943
|
|
G |
Ccdc174 |
coiled-coil domain containing 174 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 6:91,819,983...91,876,830
Ensembl chr 6:91,855,034...91,876,824
|
|
G |
Chchd4 |
coiled-coil-helix-coiled-coil-helix domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 6:91,441,258...91,450,405
Ensembl chr 6:91,439,154...91,450,528
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|
G |
Colq |
collagen like tail subunit of asymmetric acetylcholinesterase |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr14:31,245,039...31,299,820
Ensembl chr14:31,245,039...31,313,300
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|
G |
Dazl |
deleted in azoospermia-like |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:50,586,422...50,600,627
Ensembl chr17:50,586,423...50,600,664
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G |
Dph3 |
diphthamine biosynthesis 3 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr14:31,802,474...31,807,649
Ensembl chr14:31,802,523...31,807,686
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G |
Eaf1 |
ELL associated factor 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr14:31,217,036...31,231,815
Ensembl chr14:31,216,356...31,231,815
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|
G |
Efhb |
EF hand domain family, member B |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:53,705,077...53,770,362
Ensembl chr17:53,705,917...53,770,349
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G |
Fbln2 |
fibulin 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 6:91,189,442...91,249,522
Ensembl chr 6:91,189,437...91,249,522
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G |
Fgd5 |
FYVE, RhoGEF and PH domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 6:91,955,809...92,052,986
Ensembl chr 6:91,955,859...92,052,985
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|
G |
Galnt15 |
polypeptide N-acetylgalactosaminyltransferase 15 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr14:31,750,739...31,784,161
Ensembl chr14:31,750,946...31,784,154
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G |
Grip2 |
glutamate receptor interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 6:91,738,433...91,820,884
Ensembl chr 6:91,738,490...91,804,231
|
|
G |
Hacl1 |
2-hydroxyacyl-CoA lyase 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr14:31,329,183...31,364,201
Ensembl chr14:31,320,687...31,363,243
|
|
G |
Hdac11 |
histone deacetylase 11 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 6:91,133,652...91,151,674
Ensembl chr 6:91,133,647...91,151,674
|
|
G |
Kat2b |
K(lysine) acetyltransferase 2B |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:53,873,802...53,979,749
Ensembl chr17:53,873,889...53,979,748
|
|
G |
Kcnh8 |
potassium voltage-gated channel, subfamily H (eag-related), member 8 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:52,909,535...53,286,892
Ensembl chr17:52,909,737...53,286,222
|
|
G |
Lsm3 |
LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 6:91,493,017...91,499,602
Ensembl chr 6:91,492,910...91,499,607
|
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G |
Mettl6 |
methyltransferase 6, methylcytidine |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr14:31,180,775...31,217,007
Ensembl chr14:31,195,535...31,216,997
|
|
G |
Mrps25 |
mitochondrial ribosomal protein S25 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 6:92,146,493...92,161,004
Ensembl chr 6:92,146,506...92,161,014
|
|
G |
Nr2c2 |
nuclear receptor subfamily 2, group C, member 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 6:92,068,426...92,150,039
Ensembl chr 6:92,068,371...92,151,275
|
|
G |
Nup210 |
nucleoporin 210 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 6:90,990,049...91,095,920
Ensembl chr 6:90,990,050...91,093,811
|
|
G |
Oxnad1 |
oxidoreductase NAD-binding domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr14:31,807,301...31,825,160
Ensembl chr14:31,807,331...31,825,159
|
|
G |
Plcl2 |
phospholipase C-like 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:50,815,893...50,995,522
Ensembl chr17:50,816,431...50,995,512
|
|
G |
Pp2d1 |
protein phosphatase 2C-like domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:53,814,488...53,846,479
Ensembl chr17:53,814,488...53,846,479
|
|
G |
Rab5a |
RAB5A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:53,786,262...53,814,706
Ensembl chr17:53,786,262...53,814,708
|
|
G |
Rbsn |
rabenosyn, RAB effector |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 6:92,163,693...92,191,874
Ensembl chr 6:92,163,693...92,191,906
|
|
G |
Rftn1 |
raftlin lipid raft linker 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr17:50,300,287...50,497,525
Ensembl chr17:50,299,285...50,497,702
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G |
Satb1 |
special AT-rich sequence binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr17:52,043,215...52,140,318
Ensembl chr17:52,043,215...52,140,318
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G |
Setd5 |
SET domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:21681106 |
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NCBI chr 6:113,054,326...113,130,393
Ensembl chr 6:113,054,326...113,130,396
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G |
Sh3bp5 |
SH3-domain binding protein 5 (BTK-associated) |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr14:31,094,571...31,158,056
Ensembl chr14:31,081,837...31,158,035
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G |
Slc6a6 |
solute carrier family 6 (neurotransmitter transporter, taurine), member 6 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:91,661,031...91,736,044
Ensembl chr 6:91,661,034...91,736,047
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G |
Tbc1d5 |
TBC1 domain family, member 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr17:51,040,155...51,488,228
Ensembl chr17:51,040,152...51,486,380
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G |
Thumpd3 |
THUMP domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:21681106 |
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NCBI chr 6:113,023,292...113,045,239
Ensembl chr 6:113,023,186...113,045,234
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G |
Tmem43 |
transmembrane protein 43 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:91,450,689...91,465,445
Ensembl chr 6:91,450,685...91,465,445
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G |
Wnt7a |
wingless-type MMTV integration site family, member 7A |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:91,340,963...91,388,335
Ensembl chr 6:91,340,963...91,388,345
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G |
Xpc |
xeroderma pigmentosum, complementation group C |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:91,466,287...91,492,870
Ensembl chr 6:91,466,287...91,492,870
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G |
Sox9 |
SRY (sex determining region Y)-box 9 |
|
ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 10 |
ClinVar |
PMID:567843 PMID:6620326 PMID:22051515 PMID:25604083 |
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NCBI chr11:112,673,036...112,678,583
Ensembl chr11:112,673,050...112,678,586
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G |
Dmrt1 |
doublesex and mab-3 related transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 4 |
ClinVar |
PMID:25741868 |
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NCBI chr19:25,483,070...25,581,692
Ensembl chr19:25,482,982...25,581,693
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G |
Zbtb18 |
zinc finger and BTB domain containing 18 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 22 | ClinVar Annotator: match by term: ZBTB18-Related Disorder |
OMIM CTD ClinVar |
PMID:24193349 PMID:25741868 PMID:26740508 PMID:27598823 PMID:28135719 PMID:28283832 PMID:28492532 PMID:29158550 PMID:29573576 More...
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NCBI chr 1:177,269,858...177,278,330
Ensembl chr 1:177,269,917...177,278,330
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G |
Elp4 |
elongator acetyltransferase complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: 11p deletion syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 2:105,527,665...105,734,909
Ensembl chr 2:105,531,372...105,734,909
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G |
LOC106014250 |
Pax6 upstream regulatory region |
|
ISO |
ClinVar Annotator: match by term: 11p deletion syndrome |
ClinVar |
|
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NCBI chr 2:105,490,598...105,506,398
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G |
LOC107983946 |
Wt1 promoter region |
|
ISO |
ClinVar Annotator: match by term: 11p deletion syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:104,956,361...104,957,127
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G |
Pax6 |
paired box 6 |
|
ISO |
ClinVar Annotator: match by term: 11p deletion syndrome |
ClinVar |
PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 PMID:25741868 PMID:26604670 PMID:28492532 PMID:31161946 More...
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NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709
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G |
Wt1 |
WT1 transcription factor |
|
ISO |
ClinVar Annotator: match by term: 11p deletion syndrome |
ClinVar |
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:6307071 PMID:7795587 PMID:8295405 PMID:9090524 PMID:9529364 PMID:9607189 PMID:10470095 PMID:10505700 PMID:11182928 PMID:12970737 PMID:15150775 PMID:15483024 PMID:15509792 PMID:17496156 PMID:17541636 PMID:17853480 PMID:23497137 PMID:23715653 PMID:23935527 PMID:25501161 PMID:25741868 PMID:25818337 PMID:26069768 PMID:26467025 PMID:27013732 PMID:27899157 PMID:28204945 PMID:28492532 PMID:32352694 PMID:32581362 More...
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NCBI chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961
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G |
4933427D06Rik |
RIKEN cDNA 4933427D06 gene |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr 6:89,073,092...89,087,021
Ensembl chr 6:88,927,665...89,087,013
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G |
Acod1 |
aconitate decarboxylase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr14:103,284,448...103,294,009
Ensembl chr14:103,284,413...103,294,009
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G |
Alg11 |
ALG11 alpha-1,2-mannosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr 8:22,550,731...22,561,643
Ensembl chr 8:22,550,737...22,561,643
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G |
Arl11 |
ADP-ribosylation factor-like 11 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr14:61,543,740...61,549,386
Ensembl chr14:61,547,202...61,549,385
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G |
Atp7b |
ATPase, Cu++ transporting, beta polypeptide |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr 8:22,482,799...22,550,347
Ensembl chr 8:22,482,801...22,550,321
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G |
Bora |
bora, aurora kinase A activator |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr14:99,283,880...99,311,976
Ensembl chr14:99,283,658...99,311,976
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G |
Cab39l |
calcium binding protein 39-like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr14:59,678,400...59,786,353
Ensembl chr14:59,678,421...59,823,213
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G |
Ccdc70 |
coiled-coil domain containing 70 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr 8:22,459,791...22,464,071
Ensembl chr 8:22,459,791...22,464,057
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G |
Cdadc1 |
cytidine and dCMP deaminase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr14:59,796,837...59,835,433
Ensembl chr14:59,796,837...59,835,408
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G |
Ckap2 |
cytoskeleton associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr 8:22,658,168...22,675,835
Ensembl chr 8:22,658,176...22,675,835
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G |
Cln5 |
ceroid-lipofuscinosis, neuronal 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:103,307,679...103,315,064
Ensembl chr14:103,307,652...103,315,064
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G |
Cnmd |
chondromodulin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:79,875,122...79,899,634
Ensembl chr14:79,875,130...79,899,610
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G |
Commd6 |
COMM domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:101,871,202...101,877,907
Ensembl chr14:101,870,417...101,878,122
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G |
Cysltr2 |
cysteinyl leukotriene receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:73,263,043...73,286,554
Ensembl chr14:73,263,043...73,286,554
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G |
Dach1 |
dachshund family transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:98,024,282...98,407,608
Ensembl chr14:98,024,289...98,407,201
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G |
Diaph3 |
diaphanous related formin 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:86,892,793...87,378,683
Ensembl chr14:86,892,803...87,378,671
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G |
Dis3 |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:99,314,070...99,337,217
Ensembl chr14:99,312,642...99,337,206
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G |
Dleu7 |
deleted in lymphocytic leukemia, 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:62,513,678...62,530,428
Ensembl chr14:62,513,680...62,530,496
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G |
Ebpl |
emopamil binding protein-like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:61,577,212...61,597,894
Ensembl chr14:61,569,191...61,597,888
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G |
Ednrb |
endothelin receptor type B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:104,052,051...104,083,248
Ensembl chr14:104,052,061...104,081,838
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G |
Fam124a |
family with sequence similarity 124, member A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:62,793,186...62,845,935
Ensembl chr14:62,793,186...62,845,935
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G |
Fbxl3 |
F-box and leucine-rich repeat protein 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:103,317,675...103,337,036
Ensembl chr14:103,317,675...103,337,002
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G |
Fndc3a |
fibronectin type III domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:72,775,388...72,948,141
Ensembl chr14:72,775,386...72,947,443
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G |
Gm4131 |
predicted gene 4131 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:62,699,937...62,718,604
Ensembl chr14:62,700,863...62,804,370
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G |
Gm45935 |
predicted gene, 45935 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:59,618,282...59,678,329
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G |
Ints6 |
integrator complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:62,913,774...62,998,617
Ensembl chr14:62,913,779...62,998,618
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G |
Itm2b |
integral membrane protein 2B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:73,599,666...73,622,729
Ensembl chr14:73,599,666...73,622,729
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G |
Kcnrg |
potassium channel regulator |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:61,844,905...61,850,282
Ensembl chr14:61,844,906...61,850,275
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G |
Kctd12 |
potassium channel tetramerisation domain containing 12 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:103,214,017...103,220,073
Ensembl chr14:103,214,017...103,220,073
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G |
Klf12 |
Kruppel-like transcription factor 12 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:100,103,617...100,719,681
Ensembl chr14:100,108,068...100,522,115
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G |
Klf5 |
Kruppel-like transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:99,536,127...99,550,848
Ensembl chr14:99,536,127...99,552,472
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G |
Klhl1 |
kelch-like 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:96,342,695...96,756,525
Ensembl chr14:96,340,172...96,756,538
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G |
Kpna3 |
karyopherin subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:61,602,635...61,677,396
Ensembl chr14:61,602,660...61,677,323
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G |
Krtap21-1 |
keratin associated protein 21-1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:89,199,915...89,200,662
Ensembl chr16:89,200,106...89,200,756
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G |
Lmo7 |
LIM domain only 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:101,967,353...102,172,144
Ensembl chr14:101,967,393...102,172,146
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G |
Lpar6 |
lysophosphatidic acid receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:73,475,331...73,477,798
Ensembl chr14:73,475,335...73,480,734
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G |
Med4 |
mediator complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:73,747,489...73,755,985
Ensembl chr14:73,747,465...73,756,289
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G |
Mir15a |
microRNA 15a |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:61,869,476...61,869,559
Ensembl chr14:61,869,476...61,869,559
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G |
Mir16-1 |
microRNA 16-1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:61,869,329...61,869,421
Ensembl chr14:61,869,329...61,869,421
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G |
Mir759 |
microRNA 759 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:79,975,871...79,975,968
Ensembl chr14:79,975,871...79,975,968
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G |
Mycbp2 |
MYC binding protein 2, E3 ubiquitin protein ligase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:103,350,847...103,584,276
Ensembl chr14:103,350,847...103,584,250
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G |
Mzt1 |
mitotic spindle organizing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:99,271,980...99,283,898
Ensembl chr14:99,271,980...99,283,570
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G |
Ndfip2 |
Nedd4 family interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:105,495,975...105,546,732
Ensembl chr14:105,496,008...105,546,732
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G |
Nek3 |
NIMA (never in mitosis gene a)-related expressed kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr 8:22,618,299...22,657,009
Ensembl chr 8:22,618,299...22,656,451
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G |
Nek5 |
NIMA (never in mitosis gene a)-related expressed kinase 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr 8:22,563,631...22,615,443
Ensembl chr 8:22,563,632...22,615,069
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G |
Nudt15 |
nudix hydrolase 15 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:73,756,320...73,785,682
Ensembl chr14:73,756,317...73,785,682
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G |
Obi1 |
ORC ubiquitin ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:104,714,970...104,760,148
Ensembl chr14:104,714,972...104,760,081
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G |
Olfm4 |
olfactomedin 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:80,237,742...80,260,581
Ensembl chr14:80,221,521...80,260,579
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G |
Pcdh17 |
protocadherin 17 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr14:84,680,626...84,775,005
Ensembl chr14:84,681,003...84,776,442
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G |
Pcdh20 |
protocadherin 20 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr14:88,702,183...88,708,832
Ensembl chr14:88,702,179...88,708,832
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G |
Pcdh8 |
protocadherin 8 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr14:80,004,224...80,008,752
Ensembl chr14:80,004,215...80,008,752
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G |
Pcdh9 |
protocadherin 9 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:93,251,136...94,132,619
Ensembl chr14:93,250,846...94,128,115
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G |
Phf11d |
PHD finger protein 11D |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr14:59,584,856...59,602,939
Ensembl chr14:59,584,856...59,602,919
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G |
Pibf1 |
progesterone immunomodulatory binding factor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr14:99,336,860...99,492,335
Ensembl chr14:99,336,860...99,491,929
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G |
Pou4f1 |
POU domain, class 4, transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr14:104,699,111...104,705,554
Ensembl chr14:104,699,112...104,705,435
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G |
Rb1 |
RB transcriptional corepressor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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G |
Rbm26 |
RNA binding motif protein 26 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr14:105,344,187...105,418,475
Ensembl chr14:105,344,187...105,414,763
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G |
Rcbtb1 |
regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:59,438,471...59,474,716
Ensembl chr14:59,438,658...59,474,714
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G |
Rcbtb2 |
regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:73,376,185...73,421,495
Ensembl chr14:73,360,477...73,445,283
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G |
Rnaseh2b |
ribonuclease H2, subunit B |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:62,569,517...62,610,445
Ensembl chr14:62,530,038...62,610,441
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G |
Scel |
sciellin |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:103,750,499...103,850,782
Ensembl chr14:103,750,778...103,850,233
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G |
Serpine3 |
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:62,900,743...62,929,692
Ensembl chr14:62,901,116...62,929,692
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G |
Setdb2 |
SET domain, bifurcated 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:59,639,458...59,678,329
Ensembl chr14:59,639,458...59,678,333
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G |
Slain1 |
SLAIN motif family, member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:103,887,664...103,942,343
Ensembl chr14:103,887,664...103,942,343
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G |
Slitrk1 |
SLIT and NTRK-like family, member 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:109,147,420...109,151,671
Ensembl chr14:109,146,232...109,151,590
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G |
Slitrk6 |
SLIT and NTRK-like family, member 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:110,984,770...110,992,640
Ensembl chr14:110,986,012...110,992,581
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G |
Spry2 |
sprouty RTK signaling antagonist 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:106,129,381...106,134,899
Ensembl chr14:106,129,381...106,134,253
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G |
Spryd7 |
SPRY domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:61,769,300...61,794,335
Ensembl chr14:61,769,442...61,794,335
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G |
Sucla2 |
succinate-Coenzyme A ligase, ADP-forming, beta subunit |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:73,790,226...73,833,584
Ensembl chr14:73,762,759...73,833,582
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G |
Sugt1 |
SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:79,825,100...79,868,237
Ensembl chr14:79,825,131...79,872,636
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G |
Tbc1d4 |
TBC1 domain family, member 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:101,679,800...101,846,717
Ensembl chr14:101,679,796...101,846,627
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G |
Tdrd3 |
tudor domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:87,647,598...87,782,944
Ensembl chr14:87,654,075...87,782,940
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G |
Thsd1 |
thrombospondin, type I, domain 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr 8:22,711,623...22,752,973
Ensembl chr 8:22,717,329...22,751,350
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G |
Trim13 |
tripartite motif-containing 13 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:61,835,675...61,847,736
Ensembl chr14:61,835,696...61,843,395
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G |
Uchl3 |
ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:101,891,387...101,933,561
Ensembl chr14:101,891,403...101,933,561
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G |
Vps36 |
vacuolar protein sorting 36 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr 8:22,682,849...22,710,969
Ensembl chr 8:22,682,825...22,710,859
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G |
Wdfy2 |
WD repeat and FYVE domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr14:63,075,110...63,198,958
Ensembl chr14:63,075,127...63,198,958
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G |
Apba2 |
amyloid beta precursor protein binding family A member 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 7:64,151,444...64,403,620
Ensembl chr 7:64,151,454...64,403,626
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G |
Atp10a |
ATPase, class V, type 10A |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:58,305,896...58,479,783
Ensembl chr 7:58,305,914...58,479,168
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G |
Auts2 |
autism susceptibility candidate 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25205402 PMID:25741868 PMID:28505103 |
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NCBI chr 5:131,466,171...132,572,059
Ensembl chr 5:131,466,171...132,572,183
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G |
Ccdc92b |
coiled-coil domain containing 92B |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr11:74,510,428...74,532,342
Ensembl chr11:74,510,431...74,532,342
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G |
Chrna7 |
cholinergic receptor, nicotinic, alpha polypeptide 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
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NCBI chr 7:62,748,440...62,862,274
Ensembl chr 7:62,748,440...62,862,317
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G |
Cluh |
clustered mitochondria homolog |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr11:74,539,707...74,561,680
Ensembl chr11:74,540,321...74,561,673
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G |
Cyfip1 |
cytoplasmic FMR1 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 7:55,491,556...55,582,381
Ensembl chr 7:55,491,493...55,582,350
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G |
Entrep2 |
endosomal transmembrane epsin interactor 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 7:64,405,839...64,806,276
Ensembl chr 7:64,405,839...64,806,318
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G |
Gabra5 |
gamma-aminobutyric acid type A receptor subunit alpha 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:57,057,417...57,240,808
Ensembl chr 7:57,057,420...57,159,807
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G |
Gabrb3 |
GABRB3, gamma-aminobutyric acid type A receptor subunit beta 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:57,240,266...57,478,550
Ensembl chr 7:57,069,440...57,478,550
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G |
Gabrg3 |
gamma-aminobutyric acid type A receptor, subunit gamma 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:56,366,211...57,037,173
Ensembl chr 7:56,366,213...57,036,936
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G |
Gm22046 |
predicted gene, 22046 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 7:59,398,704...59,398,797
Ensembl chr 7:59,398,704...59,398,797
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G |
Gm22496 |
predicted gene, 22496 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 7:58,997,085...58,997,172
Ensembl chr 7:58,997,085...58,997,172
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G |
Gm23471 |
predicted gene, 23471 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 7:59,084,025...59,084,103
Ensembl chr 7:59,084,025...59,084,103
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G |
Gm26504 |
predicted gene, 26504 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 7:59,325,738...59,325,827
Ensembl chr 7:59,325,736...59,325,829
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G |
Herc2 |
HECT and RLD domain containing E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:55,699,872...55,884,373
Ensembl chr 7:55,699,944...55,881,548
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G |
Magel2 |
MAGE family member L2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:62,026,727...62,031,388
Ensembl chr 7:62,026,758...62,031,388
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G |
Mkrn3 |
makorin, ring finger protein, 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:62,067,341...62,069,901
Ensembl chr 7:62,067,341...62,069,887
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G |
Ndn |
necdin, MAGE family member |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:61,998,025...61,999,676
Ensembl chr 7:61,996,317...62,000,010
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G |
Nipa1 |
non imprinted in Prader-Willi/Angelman syndrome 1 homolog (human) |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 7:55,628,232...55,669,348
Ensembl chr 7:55,627,315...55,669,702
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G |
Nipa2 |
non imprinted in Prader-Willi/Angelman syndrome 2 homolog (human) |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 7:55,581,014...55,612,241
Ensembl chr 7:55,581,035...55,612,224
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G |
Nsmce3 |
NSE3 homolog, SMC5-SMC6 complex component |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 7:64,521,430...64,522,788
Ensembl chr 7:64,516,800...64,522,745
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G |
Oca2 |
oculocutaneous albinism II |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:55,889,341...56,186,266
Ensembl chr 7:55,889,508...56,186,266
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G |
Otud7a |
OTU domain containing 7A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
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NCBI chr 7:63,094,493...63,415,980
Ensembl chr 7:63,094,499...63,408,776
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G |
Pafah1b1 |
platelet-activating factor acetylhydrolase, isoform 1b, subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr11:74,564,775...74,615,210
Ensembl chr11:74,564,775...74,615,496
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G |
Rap1gap2 |
RAP1 GTPase activating protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr11:74,274,182...74,501,796
Ensembl chr11:74,274,182...74,501,741
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G |
Snhg14 |
small nucleolar RNA host gene 14 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 7:58,922,485...60,099,925
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G |
Snord107 |
small nucleolar RNA, C/D box 107 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 7:59,630,624...59,630,693
Ensembl chr 7:59,630,624...59,630,693
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G |
Snord64 |
small nucleolar RNA, C/D box 64 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 7:59,628,559...59,628,604
Ensembl chr 7:59,628,556...59,628,622
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G |
Snrpn |
small nuclear ribonucleoprotein N |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:59,632,243...60,099,925
Ensembl chr 7:59,632,243...59,789,967
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G |
Snurf |
SNRPN upstream reading frame |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:59,632,243...59,654,947
Ensembl chr 7:59,623,897...59,654,812 Ensembl chr 7:59,623,897...59,654,812
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G |
Tjp1 |
tight junction protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 7:64,945,913...65,177,629
Ensembl chr 7:64,945,913...65,177,529
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G |
Tubgcp5 |
tubulin, gamma complex component 5 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 7:55,443,873...55,481,207
Ensembl chr 7:55,443,902...55,481,425
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G |
Ube3a |
ubiquitin protein ligase E3A |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 7:58,871,891...58,960,585
Ensembl chr 7:58,878,498...58,961,284
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G |
Chrna7 |
cholinergic receptor, nicotinic, alpha polypeptide 7 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
CTD ClinVar |
PMID:31690835 |
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NCBI chr 7:62,748,440...62,862,274
Ensembl chr 7:62,748,440...62,862,317
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G |
Fan1 |
FANCD2/FANCI-associated nuclease 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 7:63,994,627...64,023,874
Ensembl chr 7:63,996,506...64,023,843
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G |
Klf13 |
Kruppel-like transcription factor 13 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
CTD ClinVar |
PMID:31690835 |
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NCBI chr 7:63,536,099...63,588,663
Ensembl chr 7:63,536,099...63,588,663
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G |
Mir211 |
microRNA 211 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 7:63,855,554...63,855,659
Ensembl chr 7:63,855,554...63,855,659
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G |
Mtmr10 |
myotubularin related protein 10 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 7:63,937,418...63,990,554
Ensembl chr 7:63,937,401...63,990,554
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G |
Otud7a |
OTU domain containing 7A |
|
IAGP ISO |
OMIM:612001 ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
MouseDO ClinVar |
PMID:31690835 |
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NCBI chr 7:63,094,493...63,415,980
Ensembl chr 7:63,094,499...63,408,776
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G |
Trpm1 |
transient receptor potential cation channel, subfamily M, member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 7:63,803,583...63,923,630
Ensembl chr 7:63,803,583...63,919,523
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G |
Cimap1c |
ciliary microtubule associated protein 1C |
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ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr 9:56,755,940...56,779,199
Ensembl chr 9:56,755,943...56,771,963
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G |
Commd4 |
COMM domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr 9:57,062,319...57,065,633
Ensembl chr 9:57,062,319...57,065,615
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G |
Cspg4 |
chondroitin sulfate proteoglycan 4 |
|
ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr 9:56,772,388...56,807,154
Ensembl chr 9:56,772,317...56,807,154
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G |
Imp3 |
IMP3, U3 small nucleolar ribonucleoprotein |
|
ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr 9:56,844,784...56,845,682
Ensembl chr 9:56,844,759...56,845,682
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G |
Man2c1 |
mannosidase, alpha, class 2C, member 1 |
|
ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr 9:57,037,953...57,049,497
Ensembl chr 9:57,037,974...57,050,006
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G |
Neil1 |
nei endonuclease VIII-like 1 (E. coli) |
|
ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr 9:57,050,072...57,055,973
Ensembl chr 9:57,050,084...57,055,589
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G |
Ptpn9 |
protein tyrosine phosphatase, non-receptor type 9 |
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ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr 9:56,902,252...56,970,092
Ensembl chr 9:56,902,207...56,970,091
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G |
Sin3a |
transcriptional regulator, SIN3A (yeast) |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome | ClinVar Annotator: match by term: SIN3A-related intellectual disability syndrome | ClinVar Annotator: match by term: Witteveen-kolk syndrome |
OMIM CTD ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 PMID:25741868 PMID:27399968 PMID:28492532 PMID:30267900 More...
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NCBI chr 9:56,979,271...57,035,652
Ensembl chr 9:56,979,324...57,035,650
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G |
Snupn |
snurportin 1 |
|
ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr 9:56,855,158...56,893,545
Ensembl chr 9:56,858,162...56,890,490
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G |
Snx33 |
sorting nexin 33 |
|
ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr 9:56,824,472...56,835,726
Ensembl chr 9:56,824,477...56,835,655
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G |
Adamts17 |
ADAM metallopeptidase with thrombospondin type 1 motif 17 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:66,487,387...66,802,373
Ensembl chr 7:66,489,483...66,802,919
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G |
Aldh1a3 |
aldehyde dehydrogenase family 1, subfamily A3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:66,040,640...66,077,225
Ensembl chr 7:66,040,638...66,077,265
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G |
Asb7 |
ankyrin repeat and SOCS box-containing 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:66,294,220...66,339,601
Ensembl chr 7:66,294,313...66,339,344
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G |
Cers3 |
ceramide synthase 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:66,382,864...66,473,440
Ensembl chr 7:66,393,252...66,473,439
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G |
Chsy1 |
chondroitin sulfate synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:65,759,240...65,823,546
Ensembl chr 7:65,759,263...65,823,546
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G |
Igf1r |
insulin-like growth factor I receptor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416
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G |
Lins1 |
lines homolog 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:66,339,565...66,367,004
Ensembl chr 7:66,339,637...66,367,004
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G |
Lrrc28 |
leucine rich repeat containing 28 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:67,163,158...67,295,084
Ensembl chr 7:67,163,158...67,295,016
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G |
Lrrk1 |
leucine-rich repeat kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:65,908,493...66,038,089
Ensembl chr 7:65,876,660...66,038,098
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G |
Lysmd4 |
LysM, putative peptidoglycan-binding, domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:66,872,292...66,878,216
Ensembl chr 7:66,872,292...66,957,078
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G |
Mef2a |
myocyte enhancer factor 2A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:66,880,911...67,026,435
Ensembl chr 7:66,880,911...67,022,606
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G |
Pgpep1l |
pyroglutamyl-peptidase I-like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:67,881,154...67,914,232
Ensembl chr 7:67,886,358...67,913,981
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G |
Synm |
synemin, intermediate filament protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:67,379,909...67,409,490
Ensembl chr 7:67,379,908...67,409,490
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G |
Ttc23 |
tetratricopeptide repeat domain 23 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:67,295,180...67,378,370
Ensembl chr 7:67,297,158...67,412,660
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G |
4930451I11Rik |
RIKEN cDNA 4930451I11 gene |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 7:126,429,640...126,430,712
Ensembl chr 7:126,429,640...126,430,811
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G |
AI467606 |
expressed sequence AI467606 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 7:126,689,952...126,693,221
Ensembl chr 7:126,690,531...126,693,158
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G |
Aldoa |
aldolase A, fructose-bisphosphate |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:126,394,406...126,399,537
Ensembl chr 7:126,394,406...126,399,923 Ensembl chr 7:126,394,406...126,399,923
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G |
Asphd1 |
aspartate beta-hydroxylase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 7:126,545,159...126,548,754
Ensembl chr 7:126,544,739...126,548,754
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G |
Atp2a1 |
ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 7:126,045,032...126,062,245
Ensembl chr 7:126,045,030...126,062,280
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G |
Atxn2l |
ataxin 2-like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
|
NCBI chr 7:126,090,880...126,106,991
Ensembl chr 7:126,090,880...126,102,609
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G |
Bola2 |
bolA family member 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
|
|
NCBI chr 7:126,295,172...126,295,865
Ensembl chr 7:126,294,573...126,298,970
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G |
Cd19 |
CD19 antigen |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 7:126,007,620...126,016,401
Ensembl chr 7:126,007,622...126,014,061
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G |
Cdipt |
CDP-diacylglycerol--inositol 3-phosphatidyltransferase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 7:126,575,630...126,579,671
Ensembl chr 7:126,575,086...126,579,673
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G |
Cdiptos |
CDIP transferase, opposite strand |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:126,571,792...126,575,575
Ensembl chr 7:126,570,894...126,575,270
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G |
Coro1a |
coronin, actin binding protein 1A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 7:126,298,946...126,303,925
Ensembl chr 7:126,298,945...126,306,959
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G |
Doc2a |
double C2, alpha |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 7:126,446,525...126,451,877
Ensembl chr 7:126,446,588...126,451,877
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G |
Eif3c |
eukaryotic translation initiation factor 3, subunit C |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:126,146,083...126,165,538
Ensembl chr 7:126,145,627...126,165,583
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G |
Gdpd3 |
glycerophosphodiester phosphodiesterase domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 7:126,365,586...126,374,817
Ensembl chr 7:126,365,506...126,374,821
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G |
Hirip3 |
HIRA interacting protein 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 7:126,461,155...126,464,549
Ensembl chr 7:126,461,144...126,464,549
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G |
Ino80e |
INO80 complex subunit E |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 7:126,450,756...126,461,544
Ensembl chr 7:126,450,132...126,461,549
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G |
Kctd13 |
potassium channel tetramerisation domain containing 13 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 7:126,528,051...126,544,781
Ensembl chr 7:126,528,051...126,544,803
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G |
Kif22 |
kinesin family member 22 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 7:126,626,901...126,641,639
Ensembl chr 7:126,626,901...126,641,643
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G |
Lat |
linker for activation of T cells |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
|
NCBI chr 7:125,962,999...125,968,877
Ensembl chr 7:125,962,996...125,968,742
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G |
Mapk3 |
mitogen-activated protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 7:126,358,798...126,364,988
Ensembl chr 7:126,358,773...126,364,991
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G |
Maz |
MYC-associated zinc finger protein (purine-binding transcription factor) |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 7:126,621,306...126,626,177
Ensembl chr 7:126,621,302...126,626,209
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G |
Mvp |
major vault protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 7:126,586,032...126,613,766
Ensembl chr 7:126,586,032...126,613,793
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G |
Nfatc2ip |
nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 2 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
|
NCBI chr 7:125,982,025...125,995,909
Ensembl chr 7:125,982,026...125,995,909
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G |
Pagr1a |
PAXIP1 associated glutamate rich protein 1A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 7:126,614,223...126,616,524
Ensembl chr 7:126,614,205...126,616,524 Ensembl chr 7:126,614,205...126,616,524
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G |
Ppp4c |
protein phosphatase 4, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 7:126,385,038...126,391,729
Ensembl chr 7:126,385,038...126,391,668
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G |
Prrt2 |
proline-rich transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 7:126,616,707...126,620,800
Ensembl chr 7:126,616,703...126,620,383
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G |
Qprt |
quinolinate phosphoribosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 7:126,706,942...126,721,201
Ensembl chr 7:126,706,286...126,721,398
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G |
Rabep2 |
rabaptin, RAB GTPase binding effector protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 7:126,027,596...126,045,079
Ensembl chr 7:126,027,931...126,048,417
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G |
Sez6l2 |
seizure related 6 homolog like 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 7:126,549,665...126,569,782
Ensembl chr 7:126,549,735...126,569,778
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G |
Sftpa1 |
surfactant associated protein A1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr14:40,853,745...40,858,330
Ensembl chr14:40,853,739...40,858,409
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G |
Sh2b1 |
SH2B adaptor protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
|
NCBI chr 7:126,066,165...126,075,882
Ensembl chr 7:126,066,166...126,074,596
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G |
Slx1b |
SLX1 structure-specific endonuclease subunit homolog B (S. cerevisiae) |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:126,288,099...126,294,955
Ensembl chr 7:126,288,640...126,294,956
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G |
Spn |
sialophorin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 7:126,731,404...126,743,785
Ensembl chr 7:126,731,404...126,736,995
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G |
Spns1 |
SPNS lysolipid transporter 1, lysophospholipid |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
|
NCBI chr 7:125,969,232...125,977,179
Ensembl chr 7:125,969,232...125,976,622
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G |
Taok2 |
TAO kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 7:126,464,848...126,485,468
Ensembl chr 7:126,464,850...126,483,875
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G |
Tbx6 |
T-box 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 7:126,380,655...126,384,720
Ensembl chr 7:126,380,655...126,384,732
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G |
Tlcd3b |
TLC domain containing 3B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 7:126,413,213...126,429,391
Ensembl chr 7:126,396,840...126,429,391
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G |
Tmem219 |
transmembrane protein 219 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 7:126,485,391...126,527,993
Ensembl chr 7:126,485,343...126,522,089
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G |
Tufm |
Tu translation elongation factor, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
|
NCBI chr 7:126,086,445...126,089,903
Ensembl chr 7:126,086,533...126,089,903
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G |
Ypel3 |
yippee like 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 7:126,376,135...126,379,682
Ensembl chr 7:126,376,127...126,379,686
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G |
Zg16 |
zymogen granule protein 16 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 7:126,649,328...126,651,847
Ensembl chr 7:126,649,328...126,686,500
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G |
Cdr2 |
cerebellar degeneration-related 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:120,556,259...120,581,535
Ensembl chr 7:120,556,259...120,581,535
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G |
Eef2k |
eukaryotic elongation factor-2 kinase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:120,442,080...120,506,441
Ensembl chr 7:120,442,054...120,506,673
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G |
Mosmo |
modulator of smoothened |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:120,276,825...120,334,077
Ensembl chr 7:120,276,841...120,334,077
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G |
Pdzd9 |
PDZ domain containing 9 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:120,258,126...120,276,785
Ensembl chr 7:120,257,954...120,269,566
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G |
Polr3e |
polymerase (RNA) III (DNA directed) polypeptide E |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:120,516,960...120,546,658
Ensembl chr 7:120,516,967...120,546,655
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G |
Sdr42e2 |
short chain dehydrogenase/reductase family 42E, member 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:120,408,853...120,431,122
Ensembl chr 7:120,411,588...120,430,416
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G |
Uqcrc2 |
ubiquinol cytochrome c reductase core protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:120,234,412...120,258,746
Ensembl chr 7:120,234,399...120,258,747
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G |
Vwa3a |
von Willebrand factor A domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:120,336,554...120,404,769
Ensembl chr 7:120,338,541...120,404,965
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G |
4933405L10Rik |
RIKEN cDNA 4933405L10 gene |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:106,434,921...106,436,877
Ensembl chr 8:106,434,287...106,436,878
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G |
Acd |
adrenocortical dysplasia |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 8:106,424,789...106,427,748
Ensembl chr 8:106,422,492...106,427,734
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Carmil2 |
capping protein regulator and myosin 1 linker 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 8:106,412,642...106,424,827
Ensembl chr 8:106,412,906...106,424,819
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G |
Ctcf |
CCCTC-binding factor |
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ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 8:106,351,135...106,409,554
Ensembl chr 8:106,363,200...106,409,554
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G |
Enkd1 |
enkurin domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 8:106,430,281...106,435,358
Ensembl chr 8:106,430,283...106,434,842
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G |
Gfod2 |
glucose-fructose oxidoreductase domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 8:106,440,676...106,485,299
Ensembl chr 8:106,440,486...106,485,296
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G |
Pard6a |
par-6 family cell polarity regulator alpha |
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ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 8:106,427,780...106,430,126
Ensembl chr 8:106,427,780...106,430,128
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G |
Ranbp10 |
RAN binding protein 10 |
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ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 8:106,494,940...106,560,463
Ensembl chr 8:106,494,940...106,553,982
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G |
Kansl1 |
KAT8 regulatory NSL complex subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22544363 PMID:22544367 |
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NCBI chr11:104,224,327...104,360,584
Ensembl chr11:104,224,055...104,359,687
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G |
Trp53 |
transformation related protein 53 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14961032 |
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NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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G |
Rnf135 |
ring finger protein 135 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome |
CTD ClinVar |
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456 More...
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NCBI chr11:80,074,652...80,090,581
Ensembl chr11:80,074,677...80,090,583
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G |
Aatf |
apoptosis antagonizing transcription factor |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr11:84,313,682...84,404,433
Ensembl chr11:84,313,681...84,404,348
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G |
Acaca |
acetyl-Coenzyme A carboxylase alpha |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr11:84,020,461...84,292,477
Ensembl chr11:84,020,498...84,292,477
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G |
Ccl3 |
C-C motif chemokine ligand 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr11:83,538,669...83,540,204
Ensembl chr11:83,538,670...83,540,181
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G |
Ccl4 |
C-C motif chemokine ligand 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509
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G |
Ddx52 |
DExD box helicase 52 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr11:83,831,659...83,853,914
Ensembl chr11:83,832,888...83,853,914
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G |
Dhrs11 |
dehydrogenase/reductase 11 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr11:84,711,547...84,719,880
Ensembl chr11:84,711,682...84,719,820
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G |
Dusp14 |
dual specificity phosphatase 14 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr11:83,938,859...83,960,016
Ensembl chr11:83,938,867...83,960,087
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G |
Ggnbp2 |
gametogenetin binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr11:84,723,187...84,761,668
Ensembl chr11:84,723,187...84,761,643
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G |
Gm11437 |
predicted gene 11437 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr11:84,039,187...84,058,302
Ensembl chr11:84,039,177...84,058,302
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G |
Hnf1b |
HNF1 homeobox B |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr11:83,741,035...83,796,743
Ensembl chr11:83,740,889...83,796,645
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G |
Lhx1 |
LIM homeobox protein 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr11:84,408,801...84,416,360
Ensembl chr11:84,409,110...84,416,361
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G |
Mrm1 |
mitochondrial rRNA methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr11:84,703,887...84,710,341
Ensembl chr11:84,703,887...84,710,341
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G |
Mrpl45 |
mitochondrial ribosomal protein L45 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr11:97,205,749...97,220,746
Ensembl chr11:97,206,542...97,220,746
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G |
Myo19 |
myosin XIX |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr11:84,770,996...84,802,052
Ensembl chr11:84,770,974...84,802,052
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G |
Pigw |
phosphatidylinositol glycan anchor biosynthesis, class W |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr11:84,767,139...84,771,111
Ensembl chr11:84,767,141...84,771,111
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G |
Synrg |
synergin, gamma |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr11:83,855,217...83,935,404
Ensembl chr11:83,855,254...83,935,404
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G |
Tada2a |
transcriptional adaptor 2A |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr11:83,969,746...84,020,466
Ensembl chr11:83,969,746...84,020,426
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G |
Znhit3 |
zinc finger, HIT type 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr11:84,801,776...84,807,192
Ensembl chr11:84,801,776...84,807,192
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G |
Afg3l2 |
AFG3-like AAA ATPase 2 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:67,537,830...67,582,277
Ensembl chr18:67,537,834...67,582,242
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G |
Akain1 |
A kinase anchor inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr17:69,744,906...69,796,228
Ensembl chr17:69,746,321...69,796,228
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G |
Ankrd12 |
ankyrin repeat domain 12 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr17:66,272,698...66,386,242
Ensembl chr17:66,272,693...66,384,084
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G |
Apcdd1 |
adenomatosis polyposis coli down-regulated 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:63,055,398...63,086,886
Ensembl chr18:63,055,302...63,094,250
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G |
Arhgap28 |
Rho GTPase activating protein 28 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr17:68,149,701...68,311,185
Ensembl chr17:68,149,708...68,311,115
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G |
Cep192 |
centrosomal protein 192 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:67,933,124...68,018,241
Ensembl chr18:67,933,177...68,018,241
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G |
Cep76 |
centrosomal protein 76 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:67,750,034...67,774,425
Ensembl chr18:67,750,870...67,774,406
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G |
Chmp1b |
charged multivesicular body protein 1B |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:67,338,430...67,340,958
Ensembl chr18:67,338,437...67,340,960
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G |
Cidea |
cell death-inducing DNA fragmentation factor, alpha subunit-like effector A |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:67,476,634...67,500,864
Ensembl chr18:67,476,674...67,500,855
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G |
Dlgap1 |
DLG associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr17:70,276,068...71,128,408
Ensembl chr17:70,276,068...71,128,408
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G |
Emilin2 |
elastin microfibril interfacer 2 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr17:71,559,167...71,618,551
Ensembl chr17:71,559,167...71,618,973
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G |
Epb41l3 |
erythrocyte membrane protein band 4.1 like 3 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr17:69,382,642...69,596,986
Ensembl chr17:69,382,678...69,596,984
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G |
Fam210a |
family with sequence similarity 210, member A |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:68,393,248...68,433,404
Ensembl chr18:68,393,258...68,433,404
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G |
Gnal |
guanine nucleotide binding protein, alpha stimulating, olfactory type |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:67,221,369...67,359,863
Ensembl chr18:67,221,287...67,359,863
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G |
Impa2 |
inositol monophosphatase 2 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:67,422,246...67,454,375
Ensembl chr18:67,422,256...67,455,542
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G |
L3mbtl4 |
L3MBTL4 histone methyl-lysine binding protein |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr17:68,579,893...69,091,073
Ensembl chr17:68,580,792...69,087,081
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G |
Lama1 |
laminin, alpha 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr17:68,004,129...68,129,640
Ensembl chr17:68,004,254...68,129,642
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G |
Ldlrad4 |
low density lipoprotein receptor class A domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:68,065,345...68,393,621
Ensembl chr18:68,066,328...68,401,701
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G |
Lpin2 |
lipin 2 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr17:71,490,527...71,556,813
Ensembl chr17:71,489,555...71,556,812
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G |
Lrrc30 |
leucine rich repeat containing 30 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr17:67,937,960...67,939,718
Ensembl chr17:67,937,959...67,939,718
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G |
Mc2r |
melanocortin 2 receptor |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:68,539,970...68,562,391
Ensembl chr18:68,539,978...68,562,391
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G |
Mc5r |
melanocortin 5 receptor |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:68,469,811...68,475,517
Ensembl chr18:68,470,575...68,475,517
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G |
Mppe1 |
metallophosphoesterase 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:67,358,119...67,378,901
Ensembl chr18:67,358,114...67,378,901
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G |
Mtcl1 |
microtubule crosslinking factor 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr17:66,643,975...66,760,672
Ensembl chr17:66,643,977...66,756,745
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G |
Myl12a |
myosin, light chain 12A, regulatory, non-sarcomeric |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr17:71,300,788...71,309,528
Ensembl chr17:71,300,651...71,309,873
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G |
Myl12b |
myosin, light chain 12B, regulatory |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr17:71,280,958...71,297,511
Ensembl chr17:71,280,128...71,297,885
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G |
Myom1 |
myomesin 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr17:71,326,455...71,433,851
Ensembl chr17:71,309,628...71,433,851
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G |
Napg |
N-ethylmaleimide sensitive fusion protein attachment protein gamma |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:63,110,910...63,132,521
Ensembl chr18:63,110,902...63,132,521
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G |
Ndufv2 |
NADH:ubiquinone oxidoreductase core subunit V2 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:66,385,790...66,408,554
Ensembl chr17:66,385,633...66,408,554
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G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr18:63,143,284...63,520,787
Ensembl chr18:63,143,284...63,520,254
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G |
Ppp4r1 |
protein phosphatase 4, regulatory subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:66,089,253...66,148,921
Ensembl chr17:66,089,568...66,148,921
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G |
Prelid3a |
PRELI domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr18:67,595,119...67,613,651
Ensembl chr18:67,597,936...67,612,905
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G |
Psmg2 |
proteasome (prosome, macropain) assembly chaperone 2 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr18:67,774,657...67,787,251
Ensembl chr18:67,774,669...67,787,232
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G |
Ptpn2 |
protein tyrosine phosphatase, non-receptor type 2 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:67,798,571...67,857,697
Ensembl chr18:67,798,581...67,857,665
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G |
Ptprm |
protein tyrosine phosphatase receptor type M |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr17:66,973,843...67,661,486
Ensembl chr17:66,973,942...67,661,452
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G |
Rab12 |
RAB12, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:66,801,507...66,826,712
Ensembl chr17:66,801,507...66,826,724
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G |
Rab31 |
RAB31, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:65,958,721...66,079,747
Ensembl chr17:65,958,724...66,079,747
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G |
Ralbp1 |
ralA binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:66,155,410...66,192,750
Ensembl chr17:66,155,413...66,192,793
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G |
Rnmt |
RNA (guanine-7-) methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr18:68,433,406...68,457,923
Ensembl chr18:68,433,426...68,457,923
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G |
Seh1l |
SEH1-like (S. cerevisiae |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr18:67,907,946...67,928,557
Ensembl chr18:67,907,946...67,928,557
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G |
Smchd1 |
SMC hinge domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:71,651,484...71,782,361
Ensembl chr17:71,651,484...71,782,338
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G |
Spire1 |
spire type actin nucleation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr18:67,621,279...67,745,880
Ensembl chr18:67,621,279...67,743,860
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G |
Tgif1 |
TGFB-induced factor homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:71,151,200...71,160,527
Ensembl chr17:71,151,200...71,160,541
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G |
Tmem200c |
transmembrane protein 200C |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr17:69,144,084...69,150,133
Ensembl chr17:69,133,618...69,150,134
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G |
Tubb6 |
tubulin, beta 6 class V |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:67,523,801...67,535,819
Ensembl chr18:67,523,787...67,535,819
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G |
Twsg1 |
twisted gastrulation BMP signaling modulator 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr17:66,230,060...66,258,198
Ensembl chr17:66,228,967...66,258,221
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G |
Txndc2 |
thioredoxin domain containing 2 (spermatozoa) |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr17:65,944,498...65,955,871
Ensembl chr17:65,944,502...65,949,163
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G |
Vapa |
vesicle-associated membrane protein, associated protein A |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr17:65,887,048...65,925,441
Ensembl chr17:65,885,322...65,920,550
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G |
Zbtb14 |
zinc finger and BTB domain containing 14 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr17:69,690,170...69,697,747
Ensembl chr17:69,690,045...69,698,194
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G |
Adnp2 |
ADNP homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr18:80,169,523...80,195,284
Ensembl chr18:80,169,526...80,194,697
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G |
Atp9b |
ATPase, class II, type 9B |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr18:80,777,356...80,977,291
Ensembl chr18:80,777,356...80,977,275
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G |
Bcl2 |
B cell leukemia/lymphoma 2 |
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ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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G |
Cbln2 |
cerebellin 2 precursor protein |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr18:86,727,226...86,736,410
Ensembl chr18:86,729,235...86,736,408
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G |
Cd226 |
CD226 antigen |
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ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr18:89,195,078...89,290,356
Ensembl chr18:89,195,091...89,290,353
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G |
Cdh19 |
cadherin 19, type 2 |
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ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:110,811,802...110,905,331
Ensembl chr 1:110,816,056...110,905,314
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G |
Cdh20 |
cadherin 20 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:104,696,242...104,923,206
Ensembl chr 1:104,696,254...104,923,206
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G |
Cdh7 |
cadherin 7, type 2 |
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ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:109,909,967...110,073,002
Ensembl chr 1:109,910,161...110,067,887
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G |
Cndp1 |
carnosine dipeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:84,628,509...84,668,359
Ensembl chr18:84,628,634...84,668,220
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G |
Cndp2 |
CNDP dipeptidase 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr18:84,685,590...84,703,827
Ensembl chr18:84,685,590...84,703,827
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G |
Ctdp1 |
CTD phosphatase subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:80,451,174...80,522,959
Ensembl chr18:80,451,174...80,512,910
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G |
Cyb5a |
cytochrome b5 type A (microsomal) |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr18:84,869,463...84,897,996
Ensembl chr18:84,856,829...84,897,996
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G |
Dipk1c |
divergent protein kinase domain 1C |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr18:84,737,133...84,762,820
Ensembl chr18:84,737,361...84,758,561
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G |
Dok6 |
docking protein 6 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr18:89,310,547...89,787,664
Ensembl chr18:89,310,548...89,787,652
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G |
Dsel |
dermatan sulfate epimerase-like |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:111,786,431...111,792,782
Ensembl chr 1:111,786,432...111,792,648
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G |
Fbxo15 |
F-box protein 15 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr18:84,952,677...84,999,601
Ensembl chr18:84,952,907...84,999,598
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G |
Galr1 |
galanin receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:82,410,621...82,424,902
Ensembl chr18:82,410,505...82,424,902
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G |
Gm17266 |
predicted gene, 17266 |
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ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr18:84,813,104...84,856,766
Ensembl chr18:84,816,683...84,854,841
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G |
Hsbp1l1 |
heat shock factor binding protein 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:80,272,154...80,293,329
Ensembl chr18:80,272,973...80,290,317
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G |
Kcng2 |
potassium voltage-gated channel, subfamily G, member 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:80,337,731...80,407,469
Ensembl chr18:80,337,761...80,407,469
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G |
Kdsr |
3-ketodihydrosphingosine reductase |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:106,648,140...106,689,544
Ensembl chr 1:106,648,189...106,687,457
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G |
Mbp |
myelin basic protein |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:82,492,883...82,603,762
Ensembl chr18:82,493,271...82,603,762
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G |
Mc4r |
melanocortin 4 receptor |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 |
|
NCBI chr18:66,990,776...66,993,558
Ensembl chr18:66,990,775...66,993,577
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G |
Neto1 |
neuropilin (NRP) and tolloid (TLL)-like 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:86,411,110...86,524,482
Ensembl chr18:86,413,077...86,524,843
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G |
Nfatc1 |
nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:80,649,418...80,756,286
Ensembl chr18:80,649,420...80,756,286
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G |
Pard6g |
par-6 family cell polarity regulator gamma |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:80,090,045...80,162,855
Ensembl chr18:80,090,105...80,162,854
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G |
Phlpp1 |
PH domain and leucine rich repeat protein phosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:106,099,599...106,321,975
Ensembl chr 1:106,099,482...106,321,980
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G |
Pign |
phosphatidylinositol glycan anchor biosynthesis, class N |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:105,446,147...105,591,466
Ensembl chr 1:105,446,147...105,591,402
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G |
Ptgr3 |
prostaglandin reductase 3 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:84,106,250...84,115,579
Ensembl chr18:84,106,188...84,115,653
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G |
Rbfa |
ribosome binding factor A |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr18:80,235,479...80,243,873
Ensembl chr18:80,235,480...80,243,873
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G |
Relch |
RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:105,591,570...105,682,856
Ensembl chr 1:105,591,586...105,682,916
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G |
Rnf152 |
ring finger protein 152 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:105,204,642...105,284,665
Ensembl chr 1:105,204,639...105,284,435
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G |
Rttn |
rotatin |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:88,989,860...89,149,140
Ensembl chr18:88,989,914...89,149,140
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G |
Sall3 |
spalt like transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:81,010,204...81,030,236
Ensembl chr18:81,009,591...81,029,986
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G |
Serpinb10 |
serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 10 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:107,456,724...107,488,469
Ensembl chr 1:107,456,757...107,477,001
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G |
Serpinb11 |
serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 11 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:107,290,044...107,308,205
Ensembl chr 1:107,288,928...107,308,205
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G |
Serpinb12 |
serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 12 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:106,862,179...106,884,810
Ensembl chr 1:106,862,179...106,884,810
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G |
Serpinb13 |
serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 13 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:106,908,714...106,928,925
Ensembl chr 1:106,908,714...106,928,925
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G |
Serpinb2 |
serine (or cysteine) peptidase inhibitor, clade B, member 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:107,439,153...107,453,330
Ensembl chr 1:107,439,153...107,463,208
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G |
Serpinb3a |
serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3A |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:106,973,317...106,980,033
Ensembl chr 1:106,973,317...106,980,033
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G |
Serpinb3d |
serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3D |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:107,005,893...107,011,210
Ensembl chr 1:107,005,897...107,011,236
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G |
Serpinb5 |
serine (or cysteine) peptidase inhibitor, clade B, member 5 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:106,788,905...106,811,078
Ensembl chr 1:106,788,903...106,811,078
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G |
Serpinb7 |
serine (or cysteine) peptidase inhibitor, clade B, member 7 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:107,350,418...107,380,419
Ensembl chr 1:107,327,385...107,380,419
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G |
Serpinb8 |
serine (or cysteine) peptidase inhibitor, clade B, member 8 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:107,517,668...107,536,708
Ensembl chr 1:107,517,736...107,538,214
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G |
Slc66a2 |
solute carrier family 66 member 2 |
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ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr18:80,298,458...80,335,940
Ensembl chr18:80,296,507...80,335,940
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G |
Socs6 |
suppressor of cytokine signaling 6 |
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ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr18:88,883,293...88,912,623
Ensembl chr18:88,683,348...88,945,605
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G |
Timm21 |
translocase of inner mitochondrial membrane 21 |
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ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr18:84,964,316...84,970,168
Ensembl chr18:84,964,316...84,969,649
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G |
Tmx3 |
thioredoxin-related transmembrane protein 3 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr18:90,528,336...90,561,391
Ensembl chr18:90,528,278...90,561,391
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G |
Tnfrsf11a |
tumor necrosis factor receptor superfamily, member 11a, NFKB activator |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:105,708,443...105,777,172
Ensembl chr 1:105,708,443...105,775,709
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G |
Tshz1 |
teashirt zinc finger family member 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr18:84,029,752...84,105,833
Ensembl chr18:84,029,752...84,105,831
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G |
Txnl4a |
thioredoxin-like 4A |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:80,250,041...80,269,066
Ensembl chr18:80,249,980...80,255,956 Ensembl chr18:80,249,980...80,255,956
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G |
Vps4b |
vacuolar protein sorting 4B |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:106,698,518...106,724,455
Ensembl chr 1:106,691,801...106,724,458
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G |
Zcchc2 |
zinc finger, CCHC domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:105,916,929...105,961,807
Ensembl chr 1:105,918,136...105,961,804
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G |
Zfp236 |
zinc finger protein 236 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:82,611,718...82,711,044
Ensembl chr18:82,611,718...82,711,008
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G |
Zfp407 |
zinc finger protein 407 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:84,225,826...84,612,815
Ensembl chr18:84,146,152...84,607,850
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G |
Zfp516 |
zinc finger protein 516 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:82,925,324...83,023,439
Ensembl chr18:82,928,788...83,023,439
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G |
Uba2 |
ubiquitin-like modifier activating enzyme 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 19q13.11 deletion syndrome, distal |
ClinVar |
PMID:25741868 |
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NCBI chr 7:33,840,121...33,868,014
Ensembl chr 7:33,840,113...33,869,024
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G |
2510039O18Rik |
RIKEN cDNA 2510039O18 gene |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 4:148,023,849...148,031,773
Ensembl chr 4:148,025,352...148,031,771
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G |
9430015G10Rik |
RIKEN cDNA 9430015G10 gene |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 4:156,194,455...156,211,720
Ensembl chr 4:156,194,439...156,211,722
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G |
A430005L14Rik |
RIKEN cDNA A430005L14 gene |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:154,041,694...154,046,382
Ensembl chr 4:154,041,694...154,046,382
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G |
Aadacl3 |
arylacetamide deacetylase like 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:144,180,341...144,190,326
Ensembl chr 4:144,180,341...144,190,326
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G |
Aadacl4 |
arylacetamide deacetylase like 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 4:144,340,277...144,349,968
Ensembl chr 4:144,340,277...144,349,968
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G |
Acap3 |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:155,976,332...155,991,708
Ensembl chr 4:155,976,279...155,991,708
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|
G |
Acot7 |
acyl-CoA thioesterase 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:152,258,872...152,356,312
Ensembl chr 4:152,262,591...152,356,312
|
|
G |
Actrt2 |
actin-related protein T2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:154,750,885...154,752,324
Ensembl chr 4:154,750,890...154,752,324
|
|
G |
Agmat |
agmatinase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:141,473,986...141,486,574
Ensembl chr 4:141,473,983...141,486,574
|
|
G |
Agrn |
agrin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:156,249,747...156,281,997
Ensembl chr 4:156,249,747...156,281,945
|
|
G |
Agtrap |
angiotensin II, type I receptor-associated protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:148,161,518...148,172,521
Ensembl chr 4:148,161,518...148,172,488
|
|
G |
Ajap1 |
adherens junction associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:153,457,678...153,568,313
Ensembl chr 4:153,457,678...153,567,268
|
|
G |
Akr7a5 |
aldo-keto reductase family 7, member A5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:139,038,005...139,046,097
Ensembl chr 4:139,038,055...139,045,737
|
|
G |
Aldh4a1 |
aldehyde dehydrogenase 4 family, member A1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:139,348,404...139,377,002
Ensembl chr 4:139,350,177...139,377,001
|
|
G |
Angptl7 |
angiopoietin-like 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:148,579,737...148,584,919
Ensembl chr 4:148,579,640...148,584,917
|
|
G |
Ankrd65 |
ankyrin repeat domain 65 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:155,875,432...155,884,132
Ensembl chr 4:155,874,896...155,877,659
|
|
G |
Arhgef10l |
Rho guanine nucleotide exchange factor 10-like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:140,241,796...140,393,318
Ensembl chr 4:140,241,796...140,393,323
|
|
G |
Arhgef16 |
Rho guanine nucleotide exchange factor 16 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:154,362,926...154,384,535
Ensembl chr 4:154,362,943...154,386,133
|
|
G |
Arhgef19 |
Rho guanine nucleotide exchange factor 19 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:140,966,916...140,985,226
Ensembl chr 4:140,966,810...140,984,875
|
|
G |
Atad3a |
ATPase family, AAA domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:155,825,097...155,845,579
Ensembl chr 4:155,825,098...155,845,550
|
|
G |
Atp13a2 |
ATPase type 13A2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:140,711,812...140,734,641
Ensembl chr 4:140,714,184...140,734,641
|
|
G |
Aurkaip1 |
aurora kinase A interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:155,915,709...155,917,555
Ensembl chr 4:155,915,729...155,917,587
|
|
G |
B3galt6 |
UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:156,073,923...156,077,135
Ensembl chr 4:156,073,923...156,077,106
|
|
G |
C1qtnf12 |
C1q and tumor necrosis factor related 12 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:156,046,769...156,051,086
Ensembl chr 4:156,046,775...156,051,086
|
|
G |
Camta1 |
calmodulin binding transcription activator 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:151,143,980...151,946,225
Ensembl chr 4:151,001,779...151,946,333
|
|
G |
Capzb |
capping actin protein of muscle Z-line subunit beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:138,920,210...139,019,131
Ensembl chr 4:138,920,210...139,019,129
|
|
G |
Car6 |
carbonic anhydrase 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:150,271,472...150,285,592
Ensembl chr 4:150,271,472...150,285,789
|
|
G |
Casp9 |
caspase 9 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:141,520,923...141,543,289
Ensembl chr 4:141,520,923...141,543,287
|
|
G |
Casz1 |
castor zinc finger 1 |
|
IAGP ISO |
OMIM:607872 ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
MouseDO ClinVar |
|
|
NCBI chr 4:148,888,823...149,039,350
Ensembl chr 4:148,888,886...149,039,346
|
|
G |
Ccdc27 |
coiled-coil domain containing 27 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:154,111,101...154,127,202
Ensembl chr 4:154,111,096...154,127,134
|
|
G |
Ccnl2 |
cyclin L2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:155,894,468...155,909,005
Ensembl chr 4:155,896,946...155,909,000
|
|
G |
Cdk11b |
cyclin dependent kinase 11B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:155,709,293...155,734,392
Ensembl chr 4:155,709,311...155,734,395
|
|
G |
Cela2a |
chymotrypsin-like elastase family, member 2A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:141,542,265...141,553,316
Ensembl chr 4:141,542,273...141,553,471
|
|
G |
Cenps |
centromere protein S |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:149,212,806...149,222,057
Ensembl chr 4:149,211,578...149,222,086
|
|
G |
Cep104 |
centrosomal protein 104 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:154,059,649...154,093,189
Ensembl chr 4:154,059,651...154,093,189
|
|
G |
Cfap107 |
cilia and flagella associated protein 107 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:144,144,759...144,165,363
Ensembl chr 4:144,144,759...144,165,342
|
|
G |
Cfap74 |
cilia and flagella associated protein 74 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:155,493,647...155,551,280
Ensembl chr 4:155,493,647...155,551,280
|
|
G |
Chd5 |
chromodomain helicase DNA binding protein 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:152,423,103...152,474,651
Ensembl chr 4:152,423,108...152,474,651
|
|
G |
Clcn6 |
chloride channel, voltage-sensitive 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:148,088,716...148,123,270
Ensembl chr 4:148,088,716...148,123,278
|
|
G |
Clcnka |
chloride channel, voltage-sensitive Ka |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:141,111,922...141,126,017
Ensembl chr 4:141,111,921...141,126,035
|
|
G |
Clcnkb |
chloride channel, voltage-sensitive Kb |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:141,131,668...141,143,440
Ensembl chr 4:141,131,664...141,143,325
|
|
G |
Clstn1 |
calsyntenin 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:149,670,536...149,733,356
Ensembl chr 4:149,670,925...149,733,356
|
|
G |
Cort |
cortistatin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:149,209,491...149,211,220
Ensembl chr 4:149,209,491...149,211,220
|
|
G |
Cplane2 |
ciliogenesis and planar polarity effector 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:140,941,249...140,947,425
Ensembl chr 4:140,941,267...140,954,067
|
|
G |
Cptp |
ceramide-1-phosphate transfer protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:155,949,180...155,953,897
Ensembl chr 4:155,949,180...155,953,897
|
|
G |
Crocc |
ciliary rootlet coiled-coil, rootletin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:140,743,948...140,787,927
Ensembl chr 4:140,743,948...140,787,861
|
|
G |
Ctnnbip1 |
catenin beta interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:149,602,698...149,650,894
Ensembl chr 4:149,602,693...149,650,894
|
|
G |
Ctrc |
chymotrypsin C |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:141,565,550...141,573,598
Ensembl chr 4:141,565,550...141,573,670
|
|
G |
Ddi2 |
DNA-damage inducible protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:141,410,874...141,450,730
Ensembl chr 4:141,404,860...141,450,730
|
|
G |
Dffa |
DNA fragmentation factor, alpha subunit |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:149,188,599...149,205,110
Ensembl chr 4:149,188,603...149,205,104
|
|
G |
Dffb |
DNA fragmentation factor, beta subunit |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:154,048,904...154,059,578
Ensembl chr 4:154,048,906...154,059,583
|
|
G |
Dhrs3 |
dehydrogenase/reductase 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:144,618,712...144,654,779
Ensembl chr 4:144,619,397...144,654,779
|
|
G |
Disp3 |
dispatched RND transporter family member 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:148,320,890...148,372,653
Ensembl chr 4:148,324,721...148,372,422
|
|
G |
Dnajc11 |
DnaJ heat shock protein family (Hsp40) member C11 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:152,018,177...152,066,416
Ensembl chr 4:152,018,148...152,066,594
|
|
G |
Dnajc16 |
DnaJ heat shock protein family (Hsp40) member C16 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:141,487,498...141,518,255
Ensembl chr 4:141,487,500...141,518,242
|
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G |
Draxin |
dorsal inhibitory axon guidance protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:148,182,894...148,215,582
Ensembl chr 4:148,182,894...148,215,155
|
|
G |
Dvl1 |
dishevelled segment polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:155,931,829...155,943,760
Ensembl chr 4:155,931,859...155,943,760
|
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G |
Efhd2 |
EF hand domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:141,585,453...141,602,231
Ensembl chr 4:141,585,453...141,602,231
|
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G |
Emc1 |
ER membrane protein complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:139,079,898...139,106,046
Ensembl chr 4:139,079,898...139,106,041
|
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G |
Eno1 |
enolase 1, alpha non-neuron |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:150,321,165...150,333,336
Ensembl chr 4:150,321,178...150,333,336
|
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G |
Epha2 |
Eph receptor A2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:141,028,532...141,056,695
Ensembl chr 4:141,028,551...141,056,695
|
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G |
Errfi1 |
ERBB receptor feedback inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:150,938,253...150,953,346
Ensembl chr 4:150,938,376...150,953,349
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G |
Espn |
espin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:152,204,788...152,236,871
Ensembl chr 4:152,204,788...152,236,828
|
|
G |
Exosc10 |
exosome component 10 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:148,642,870...148,666,858
Ensembl chr 4:148,642,886...148,666,858
|
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G |
Faap20 |
Fanconi anemia core complex associated protein 20 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:155,333,168...155,341,144
Ensembl chr 4:155,334,259...155,341,144
|
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G |
Fam131c |
family with sequence similarity 131, member C |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:141,095,503...141,111,485
Ensembl chr 4:141,095,531...141,111,486
|
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G |
Fblim1 |
filamin binding LIM protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:141,303,373...141,333,351
Ensembl chr 4:141,303,373...141,333,407
|
|
G |
Fbxo2 |
F-box protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:148,244,605...148,250,874
Ensembl chr 4:148,245,078...148,250,881
|
|
G |
Fbxo42 |
F-box protein 42 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:140,875,216...140,931,373
Ensembl chr 4:140,875,224...140,931,373
|
|
G |
Fbxo44 |
F-box protein 44 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:148,237,256...148,244,663
Ensembl chr 4:148,237,257...148,244,939
|
|
G |
Fbxo6 |
F-box protein 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:148,230,173...148,236,592
Ensembl chr 4:148,230,173...148,236,597
|
|
G |
Fhad1 |
forkhead-associated phosphopeptide binding domain 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:141,617,741...141,742,438
Ensembl chr 4:141,617,749...141,742,393
|
|
G |
Fndc10 |
fibronectin type III domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:155,778,799...155,780,942
Ensembl chr 4:155,778,799...155,780,938
|
|
G |
Gabrd |
gamma-aminobutyric acid (GABA) A receptor, subunit delta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:155,469,436...155,482,549
Ensembl chr 4:155,469,437...155,482,569
|
|
G |
Gm13201 |
predicted gene 13201 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:148,140,315...148,160,194
Ensembl chr 4:148,155,849...148,159,877
|
|
G |
Gm17087 |
predicted gene 17087 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr17:8,784,489...8,785,858
Ensembl chr17:8,784,684...8,785,782
|
|
G |
Gm572 |
predicted gene 572 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:148,727,774...148,761,562
Ensembl chr 4:148,727,774...148,756,029
|
|
G |
Gnb1 |
guanine nucleotide binding protein (G protein), beta 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:155,575,757...155,643,726
Ensembl chr 4:155,575,818...155,643,726
|
|
G |
Gpr153 |
G protein-coupled receptor 153 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:152,358,563...152,369,798
Ensembl chr 4:152,358,689...152,369,794
|
|
G |
Gpr157 |
G protein-coupled receptor 157 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:150,171,960...150,190,457
Ensembl chr 4:150,171,822...150,190,384
|
|
G |
H6pd |
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:150,063,931...150,093,480
Ensembl chr 4:150,063,932...150,093,480
|
|
G |
Hes2 |
hes family bHLH transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:152,243,324...152,246,926
Ensembl chr 4:152,243,324...152,246,926
|
|
G |
Hes3 |
hes family bHLH transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:152,369,707...152,376,133
Ensembl chr 4:152,370,429...152,376,119
|
|
G |
Hes5 |
hes family bHLH transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:155,042,358...155,046,829
Ensembl chr 4:155,045,380...155,046,828
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G |
Hspb7 |
heat shock protein family, member 7 (cardiovascular) |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:141,148,090...141,152,621
Ensembl chr 4:141,148,090...141,152,622
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G |
Htr6 |
5-hydroxytryptamine (serotonin) receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:138,787,017...138,802,881
Ensembl chr 4:138,788,419...138,802,881
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G |
Icmt |
isoprenylcysteine carboxyl methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:152,381,671...152,391,583
Ensembl chr 4:152,381,684...152,391,578
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G |
Iffo2 |
intermediate filament family orphan 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:139,257,859...139,347,693
Ensembl chr 4:139,257,859...139,347,693
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G |
Igsf21 |
immunoglobulin superfamily, member 21 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:139,754,163...139,974,294
Ensembl chr 4:139,754,157...139,974,095
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G |
Ints11 |
integrator complex subunit 11 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:155,954,006...155,973,561
Ensembl chr 4:155,954,003...155,973,560
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G |
Isg15 |
ISG15 ubiquitin-like modifier |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 4:156,283,881...156,285,275
Ensembl chr 4:156,283,912...156,285,253
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G |
Kazn |
kazrin, periplakin interacting protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:141,829,701...142,801,231
Ensembl chr 4:141,829,701...142,205,056
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G |
Kcnab2 |
potassium voltage-gated channel, shaker-related subfamily, beta member 2 |
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IAGP ISO |
OMIM:607872 ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
MouseDO ClinVar |
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NCBI chr 4:152,475,201...152,562,006
Ensembl chr 4:152,475,199...152,562,367
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G |
Kif1b |
kinesin family member 1B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:149,260,776...149,392,762
Ensembl chr 4:149,260,776...149,392,150
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G |
Klhdc7a |
kelch domain containing 7A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:139,689,484...139,695,337
Ensembl chr 4:139,687,531...139,695,337
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G |
Klhl17 |
kelch-like 17 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 4:156,313,501...156,319,314
Ensembl chr 4:156,313,792...156,319,314
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G |
Klhl21 |
kelch-like 21 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:152,093,348...152,102,134
Ensembl chr 4:152,093,260...152,102,137
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G |
Lrrc38 |
leucine rich repeat containing 38 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:143,076,242...143,097,602
Ensembl chr 4:143,076,327...143,097,602
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G |
Lrrc47 |
leucine rich repeat containing 47 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:154,096,260...154,105,969
Ensembl chr 4:154,096,188...154,105,970
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G |
Lzic |
leucine zipper and CTNNBIP1 domain containing |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:149,569,642...149,581,952
Ensembl chr 4:149,569,686...149,581,125
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G |
Mad2l2 |
MAD2 mitotic arrest deficient-like 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:148,214,615...148,230,161
Ensembl chr 4:148,214,841...148,230,156
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G |
Masp2 |
MBL associated serine protease 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:148,679,079...148,699,939
Ensembl chr 4:148,687,011...148,699,956
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G |
Megf6 |
multiple EGF-like-domains 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:154,255,156...154,360,178
Ensembl chr 4:154,255,187...154,360,170
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G |
Mfap2 |
microfibrillar-associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:140,737,735...140,743,286
Ensembl chr 4:140,737,729...140,743,295
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G |
Mfn2 |
mitofusin 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161
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G |
Mib2 |
mindbomb E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 4:155,738,925...155,753,711
Ensembl chr 4:155,739,134...155,753,655
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G |
Micos10 |
mitochondrial contact site and cristae organizing system subunit 10 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:138,829,125...138,858,667
Ensembl chr 4:138,829,125...138,858,424
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G |
Miip |
migration and invasion inhibitory protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:147,945,235...147,953,176
Ensembl chr 4:147,945,235...147,953,273
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G |
Mir200a |
microRNA 200a |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:156,139,353...156,139,442
Ensembl chr 4:156,139,353...156,139,442
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G |
Mir200b |
microRNA 200b |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:156,140,138...156,140,207
Ensembl chr 4:156,140,138...156,140,207
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G |
Mir34a |
microRNA 34a |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 4:150,152,911...150,153,012
Ensembl chr 4:150,152,911...150,153,012
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G |
Mir429 |
microRNA 429 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 4:156,138,362...156,138,444
Ensembl chr 4:156,138,362...156,138,444
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G |
Mmel1 |
membrane metallo-endopeptidase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:154,954,042...154,979,987
Ensembl chr 4:154,954,042...154,979,985
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G |
Mmp23 |
matrix metallopeptidase 23 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:155,735,111...155,738,982
Ensembl chr 4:155,735,112...155,737,841
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G |
Morn1 |
MORN repeat containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:155,167,771...155,229,964
Ensembl chr 4:155,171,034...155,229,962
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G |
Mrpl20 |
mitochondrial ribosomal protein L20 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:155,887,335...155,893,288
Ensembl chr 4:155,887,335...155,894,432
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G |
Mrto4 |
mRNA turnover 4, ribosome maturation factor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:139,074,751...139,079,887
Ensembl chr 4:139,074,746...139,079,887
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G |
Mthfr |
methylenetetrahydrofolate reductase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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G |
Mtor |
mechanistic target of rapamycin kinase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
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G |
Mxra8 |
matrix-remodelling associated 8 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 4:155,924,137...155,928,559
Ensembl chr 4:155,924,137...155,928,545
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G |
Nadk |
NAD kinase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:155,646,838...155,675,458
Ensembl chr 4:155,646,835...155,675,458
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G |
Nbl1 |
NBL1, DAN family BMP antagonist |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:138,809,602...138,820,437
Ensembl chr 4:138,809,595...138,820,304
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G |
Necap2 |
NECAP endocytosis associated 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:140,793,823...140,805,672
Ensembl chr 4:140,793,823...140,805,668
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G |
Nmnat1 |
nicotinamide nucleotide adenylyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:149,552,026...149,569,667
Ensembl chr 4:149,552,029...149,569,659
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G |
Noc2l |
NOC2 like nucleolar associated transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:156,319,112...156,332,073
Ensembl chr 4:156,320,376...156,332,073
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G |
Nol9 |
nucleolar protein 9 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:152,123,731...152,145,951
Ensembl chr 4:152,123,778...152,145,951
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G |
Nphp4 |
nephronophthisis 4 (juvenile) homolog (human) |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:152,561,163...152,647,641
Ensembl chr 4:152,561,163...152,647,640
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G |
Nppa |
natriuretic peptide type A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:148,085,179...148,086,531
Ensembl chr 4:148,085,179...148,086,536
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G |
Nppb |
natriuretic peptide type B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662
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G |
Otud3 |
OTU domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:138,618,374...138,641,322
Ensembl chr 4:138,622,690...138,641,256
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G |
Padi1 |
peptidyl arginine deiminase, type I |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:140,540,292...140,573,089
Ensembl chr 4:140,540,294...140,573,089
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G |
Padi2 |
peptidyl arginine deiminase, type II |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:140,633,648...140,679,897
Ensembl chr 4:140,633,655...140,679,897
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G |
Padi3 |
peptidyl arginine deiminase, type III |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:140,512,680...140,537,959
Ensembl chr 4:140,512,676...140,537,959
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G |
Padi4 |
peptidyl arginine deiminase, type IV |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:140,472,819...140,501,514
Ensembl chr 4:140,473,176...140,501,547
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G |
Padi6 |
peptidyl arginine deiminase, type VI |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:140,454,666...140,469,954
Ensembl chr 4:140,454,666...140,469,954
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G |
Pank4 |
pantothenate kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:155,048,580...155,065,395
Ensembl chr 4:155,048,580...155,065,395
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G |
Park7 |
Parkinson disease (autosomal recessive, early onset) 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:150,981,590...150,994,378
Ensembl chr 4:150,981,590...150,998,894
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G |
Pax7 |
paired box 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:139,464,357...139,560,841
Ensembl chr 4:139,464,373...139,560,839
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G |
Pdpn |
podoplanin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:142,993,979...143,026,134
Ensembl chr 4:142,994,001...143,026,134
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G |
Per3 |
period circadian clock 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:151,081,475...151,129,167
Ensembl chr 4:151,088,109...151,129,122
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G |
Perm1 |
PPARGC1 and ESRR induced regulator, muscle 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:156,287,724...156,305,766
Ensembl chr 4:156,300,325...156,305,764
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G |
Pex10 |
peroxisomal biogenesis factor 10 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:155,151,487...155,156,863
Ensembl chr 4:155,151,473...155,156,890
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G |
Pex14 |
peroxisomal biogenesis factor 14 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:149,044,992...149,184,300
Ensembl chr 4:149,044,992...149,184,333
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G |
Pgd |
phosphogluconate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:149,234,448...149,251,162
Ensembl chr 4:149,234,448...149,251,228
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G |
Phf13 |
PHD finger protein 13 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:152,074,088...152,080,636
Ensembl chr 4:152,074,090...152,080,715
|
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G |
Pik3cd |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 4:149,733,625...149,787,023
Ensembl chr 4:149,733,625...149,787,028
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G |
Pla2g2a |
phospholipase A2, group IIA (platelets, synovial fluid) |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:138,559,168...138,562,500
Ensembl chr 4:138,559,171...138,562,497
|
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G |
Pla2g2c |
phospholipase A2, group IIC |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:138,452,636...138,471,886
Ensembl chr 4:138,452,103...138,473,443
|
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G |
Pla2g2d |
phospholipase A2, group IID |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:138,503,046...138,509,363
Ensembl chr 4:138,503,046...138,509,357
|
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G |
Pla2g2e |
phospholipase A2, group IIE |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:138,605,253...138,610,125
Ensembl chr 4:138,605,253...138,610,128
|
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G |
Pla2g2f |
phospholipase A2, group IIF |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:138,477,842...138,484,932
Ensembl chr 4:138,477,844...138,484,937
|
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G |
Pla2g5 |
phospholipase A2, group V |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:138,526,558...138,590,780
Ensembl chr 4:138,526,555...138,590,793
|
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G |
Plch2 |
phospholipase C, eta 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:155,067,572...155,148,548
Ensembl chr 4:155,067,572...155,141,241
|
|
G |
Plekhg5 |
pleckstrin homology domain containing, family G (with RhoGef domain) member 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:152,156,890...152,199,855
Ensembl chr 4:152,156,955...152,199,857
|
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