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: | Chromosome Deletion |
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Accession: | DOID:9008165
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browse the term
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Definition: | Actual loss of portion of a chromosome. |
Synonyms: | exact_synonym: | Partial Monosomies; Partial Monosomy; chromosome deletions |
| primary_id: | MESH:D002872 |
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Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21526190 |
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NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Rad51d |
RAD51 paralog D |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27924006 |
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NCBI chr10:67,805,720...67,824,452
Ensembl chr10:67,740,712...67,824,434
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Shank3 |
SH3 and multiple ankyrin repeat domains 3 |
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ISO |
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RGD |
PMID:12920066 |
RGD:1599213 |
NCBI chr 7:120,568,707...120,630,796
Ensembl chr 7:120,570,402...120,630,374
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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 chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553
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Ankrd11 |
ankyrin repeat domain containing 11 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
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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 chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431
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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 chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738
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C19h16orf95 |
similar to human chromosome 16 open reading frame 95 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:49,605,818...49,618,466
Ensembl chr19:49,605,818...49,618,702
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Car5a |
carbonic anhydrase 5A |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:49,973,092...50,002,948
Ensembl chr19:49,973,107...50,002,906
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Cbfa2t3 |
CBFA2/RUNX1 partner transcriptional co-repressor 3 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:50,679,897...50,750,028
Ensembl chr19:50,680,729...50,749,610
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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 chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105
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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 chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659
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Cpne7 |
copine 7 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:51,164,316...51,182,676
Ensembl chr19:51,166,034...51,182,677
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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 chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623
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Cyba |
cytochrome b-245 alpha chain |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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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 chr19:49,624,813...49,656,052
Ensembl chr19:49,627,686...49,656,010
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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 chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246
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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 chr19:50,484,890...50,486,169
Ensembl chr19:50,484,890...50,486,169
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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 chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338
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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 chr19:49,860,975...49,894,027
Ensembl chr19:49,860,967...49,894,868
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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 chr19:49,665,795...49,673,655
Ensembl chr19:49,665,791...49,677,690 Ensembl chr16:49,665,791...49,677,690
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Mvd |
mevalonate diphosphate decarboxylase |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971
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Pabpn1l |
PABPN1 like |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:50,669,965...50,673,409
Ensembl chr19:50,669,967...50,673,366
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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 chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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Rnf166 |
ring finger protein 166 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:50,529,434...50,539,274
Ensembl chr19:50,529,434...50,539,274
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Rpl13 |
ribosomal protein L13 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014 Ensembl chr 3:51,153,924...51,163,014
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Slc7a5 |
solute carrier family 7 member 5 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Snai3 |
snail family transcriptional repressor 3 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:50,516,771...50,529,295
Ensembl chr19:50,516,771...50,523,486
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Trappc2l |
trafficking protein particle complex subunit 2L |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192
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Zc3h18 |
zinc finger CCCH-type containing 18 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:50,434,864...50,479,855
Ensembl chr19:50,434,903...50,479,854
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Zcchc14 |
zinc finger CCHC-type containing 14 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:49,674,185...49,718,004
Ensembl chr19:49,674,195...49,718,029
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Zfp26 |
zinc finger protein 26 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 8:18,959,656...18,985,647
Ensembl chr 8:18,965,271...18,988,325
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Zfp469 |
zinc finger protein 469 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:50,282,337...50,324,010
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Zfpm1 |
zinc finger protein, multitype 1 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:50,334,352...50,391,029
Ensembl chr19:50,334,682...50,390,591
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Abl2 |
ABL proto-oncogene 2, non-receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:68,673,702...68,770,846
Ensembl chr13:68,673,722...68,839,742
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Acbd6 |
acyl-CoA binding domain containing 6 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:67,726,786...67,863,392
Ensembl chr13:67,726,786...67,862,311
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Angptl1 |
angiopoietin-like 1 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:68,963,186...68,981,649
Ensembl chr13:68,962,991...68,992,570
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Ankrd45 |
ankyrin repeat domain 45 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
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NCBI chr13:73,424,766...73,450,466
Ensembl chr13:73,424,480...73,450,466
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Astn1 |
astrotactin 1 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:70,537,423...70,855,440
Ensembl chr13:70,537,703...70,855,440
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Atp1b1 |
ATPase Na+/K+ transporting subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:76,786,580...76,807,096
Ensembl chr13:76,786,578...76,807,459
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Axdnd1 |
axonemal dynein light chain domain containing 1 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172
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Blzf1 |
basic leucine zipper nuclear factor 1 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:76,641,757...76,656,977
Ensembl chr13:76,641,515...76,656,999
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Brinp2 |
BMP/retinoic acid inducible neural specific 2 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:70,431,006...70,532,766
Ensembl chr13:70,431,010...70,531,810
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C13h1orf105 |
similar to human chromosome 1 open reading frame 105 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322
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Cacna1e |
calcium voltage-gated channel subunit alpha1 E |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:66,574,659...67,063,443
Ensembl chr13:66,581,920...66,894,450
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Cacybp |
calcyclin binding protein |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
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NCBI chr13:72,437,485...72,447,810
Ensembl chr13:72,437,490...72,450,177
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Ccdc181 |
coiled-coil domain containing 181 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:76,624,567...76,638,224
Ensembl chr13:76,624,567...76,638,224
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Cenpl |
centromere protein L |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
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NCBI chr13:73,337,235...73,352,115
Ensembl chr13:73,337,257...73,352,114
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Cep350 |
centrosomal protein 350 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:68,023,327...68,164,478
Ensembl chr13:68,026,891...68,165,214
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Cop1 |
COP1, E3 ubiquitin ligase |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:71,467,164...71,561,826
Ensembl chr13:71,429,961...71,538,890
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Dars2 |
aspartyl-tRNA synthetase 2 (mitochondrial) |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
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NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934
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Dhx9 |
DExH-box helicase 9 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:65,602,322...65,639,098
Ensembl chr13:65,602,323...65,639,069
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Dnm3 |
dynamin 3 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:74,359,043...74,838,135
Ensembl chr13:74,359,213...74,838,108
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F5 |
coagulation factor V |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
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Fam163a |
family with sequence similarity 163, member A |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:68,262,867...68,341,323
Ensembl chr13:68,262,872...68,341,049
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Fam20b |
FAM20B, glycosaminoglycan xylosylkinase |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:68,801,663...68,839,979
Ensembl chr13:68,801,669...68,839,915
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Faslg |
Fas ligand |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Firrm |
FIGNL1 interacting regulator of recombination and mitosis |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:76,301,914...76,345,842
Ensembl chr13:76,301,918...76,345,804
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Fmo1 |
flavin containing dimethylaniline monoxygenase 1 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:75,182,184...75,214,439
Ensembl chr13:75,182,176...75,214,647
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Fmo2 |
flavin containing dimethylaniline monoxygenase 2 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:75,221,149...75,244,377
Ensembl chr13:75,224,402...75,244,308
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Fmo3 |
flavin containing dimethylaniline monoxygenase 3 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:75,309,367...75,334,915
Ensembl chr13:75,309,374...75,328,028
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Fmo4 |
flavin containing dimethylaniline monoxygenase 4 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:75,154,683...75,172,874
Ensembl chr13:75,154,684...75,172,874
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Gas5 |
growth arrest specific 5 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
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NCBI chr13:73,303,611...73,306,932
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Glul |
glutamate-ammonia ligase |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:65,969,053...66,035,121
Ensembl chr13:66,025,630...66,035,108
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Gorab |
golgin, RAB6-interacting |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:75,745,678...75,762,307
Ensembl chr13:75,745,680...75,762,298
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Gpr52 |
G protein-coupled receptor 52 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
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NCBI chr13:72,800,265...72,804,989
Ensembl chr13:72,800,127...72,806,180
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Ier5 |
immediate early response 5 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:67,270,134...67,272,226
Ensembl chr13:67,270,135...67,272,227
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Kiaa0040 |
KIAA0040 ortholog |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
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NCBI chr13:72,274,519...72,312,103
Ensembl chr13:72,274,552...72,312,103
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Kiaa1614 |
KIAA1614 homolog |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:67,388,916...67,427,392
Ensembl chr13:67,389,044...67,421,272
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Kifap3 |
kinesin-associated protein 3 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:76,127,702...76,264,654
Ensembl chr13:76,127,696...76,264,650
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G |
Klhl20 |
kelch-like family member 20 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:73,363,451...73,408,293
Ensembl chr13:73,363,455...73,408,337
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G |
Lamc1 |
laminin subunit gamma 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:65,374,372...65,501,492
Ensembl chr13:65,374,372...65,501,492
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G |
Lamc2 |
laminin subunit gamma 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:65,284,664...65,344,164
Ensembl chr13:65,284,664...65,344,200
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|
G |
Lhx4 |
LIM homeobox 4 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:67,877,109...67,917,219
Ensembl chr13:67,877,109...67,927,003
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|
G |
Mettl13 |
methyltransferase 13, eEF1A N-terminus and K55 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:74,886,151...74,899,937
Ensembl chr13:74,886,155...74,899,870
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|
G |
Mettl18 |
methyltransferase 18, RPL3 N3(tau)-histidine |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:76,345,888...76,348,798
Ensembl chr13:76,345,957...76,348,836
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|
G |
Mir199a2 |
microRNA 199a-2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:74,582,954...74,583,063
Ensembl chr13:74,582,954...74,583,063
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G |
Mir214 |
microRNA 214 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:74,588,374...74,588,481
Ensembl chr13:74,588,372...74,588,481
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|
G |
Mir3120 |
microRNA 3120 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:74,588,376...74,588,492
Ensembl chr13:74,588,372...74,588,481
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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 chr13:67,298,362...67,317,985
Ensembl chr13:67,299,585...67,317,970
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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 chr13:75,387,800...75,443,118
Ensembl chr13:75,387,746...75,443,092
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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 chr13:72,429,168...72,434,915
Ensembl chr13:72,408,558...72,434,915
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|
G |
Myoc |
myocilin |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
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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 chr13:64,955,622...64,986,144
Ensembl chr13:64,955,503...64,986,277
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|
G |
Nme7 |
NME/NM23 family member 7 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:76,657,303...76,786,768
Ensembl chr13:76,657,367...76,786,765
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|
G |
Nmnat2 |
nicotinamide nucleotide adenylyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:65,105,950...65,277,350
Ensembl chr13:65,105,950...65,278,484
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|
G |
Nphs2 |
NPHS2 stomatin family member, podocin |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
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|
G |
Npl |
N-acetylneuraminate pyruvate lyase |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:65,655,099...65,697,464
Ensembl chr13:65,655,118...65,697,372
|
|
G |
Ntmt2 |
N-terminal Xaa-Pro-Lys N-methyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:76,050,683...76,093,972
Ensembl chr13:76,053,127...76,093,972
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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 chr13:70,873,918...71,147,874
Ensembl chr13:70,876,794...71,147,779
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|
G |
Pigc |
phosphatidylinositol glycan anchor biosynthesis, class C |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:74,343,619...74,346,148
Ensembl chr13:74,296,854...74,346,211
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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 chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355
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|
G |
Prrc2c |
proline-rich coiled-coil 2C |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:75,003,995...75,073,701
Ensembl chr13:75,004,010...75,073,643
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|
G |
Prrx1 |
paired related homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:75,600,777...75,671,896
Ensembl chr13:75,601,706...75,670,866
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|
G |
Qsox1 |
quiescin sulfhydryl oxidase 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:67,949,780...67,987,434
Ensembl chr13:67,949,780...67,987,459
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|
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 chr13:72,464,114...73,059,845
Ensembl chr13:72,468,110...73,059,984
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|
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 chr13:68,924,674...69,104,637
Ensembl chr13:68,928,474...69,056,549
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|
G |
Rasal2 |
RAS protein activator like 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:69,279,882...69,569,161
Ensembl chr13:69,258,622...69,569,940
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|
G |
Rc3h1 |
ring finger and CCCH-type domains 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:73,174,075...73,245,762
Ensembl chr13:73,173,946...73,238,839
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|
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 chr13:65,887,668...65,892,862
Ensembl chr13:65,887,530...65,892,857
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|
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 chr13:65,804,703...65,848,955
Ensembl chr13:65,804,797...65,846,807
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|
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 chr13:65,915,052...65,969,846
Ensembl chr13:65,915,097...65,968,954
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|
G |
Rnasel |
ribonuclease L |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
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|
G |
Scyl3 |
SCY1 like pseudokinase 3 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:76,278,428...76,303,038
Ensembl chr13:76,278,428...76,301,716
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|
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 chr13:69,665,757...69,727,199
Ensembl chr13:69,684,291...69,727,196
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G |
Sele |
selectin E |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741
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G |
Sell |
selectin L |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456
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G |
Selp |
selectin P |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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|
G |
Serpinc1 |
serpin family C member 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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G |
Shcbp1l |
SHC binding and spindle associated 1 like |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:65,568,863...65,599,155
Ensembl chr13:65,568,863...65,599,154
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|
G |
Slc19a2 |
solute carrier family 19 member 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:76,601,975...76,616,175
Ensembl chr13:76,601,900...76,616,172
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|
G |
Slc9c2 |
solute carrier family 9, member C2 (putative) |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:73,424,683...73,524,244
Ensembl chr13:73,451,115...73,524,239
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|
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 chr13:64,986,145...65,050,698
Ensembl chr13:64,987,434...65,050,582
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G |
Soat1 |
sterol O-acyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494
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G |
Stx6 |
syntaxin 6 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:67,332,329...67,378,580
Ensembl chr13:67,332,314...67,378,576
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|
G |
Suco |
SUN domain containing ossification factor |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:74,192,808...74,257,896
Ensembl chr13:74,193,573...74,257,896
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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 chr13:68,394,180...68,447,745
Ensembl chr13:68,394,061...68,441,319
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G |
Teddm1b |
transmembrane epididymal protein 1B |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:66,000,188...66,002,536
Ensembl chr13:66,000,281...66,001,189
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G |
Tex35 |
testis expressed 35 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:69,220,478...69,232,678
Ensembl chr13:69,220,405...69,232,529
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G |
Tnfsf18 |
TNF superfamily member 18 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:73,833,478...73,907,249
Ensembl chr13:73,831,252...73,843,169
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G |
Tnfsf4 |
TNF superfamily member 4 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788
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G |
Tnn |
tenascin N |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:72,319,160...72,386,362
Ensembl chr13:72,319,155...72,408,156
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G |
Tnr |
tenascin R |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:71,751,714...72,172,731
Ensembl chr13:72,091,585...72,167,641
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G |
Tor1aip1 |
torsin 1A interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:68,196,681...68,226,121
Ensembl chr13:68,196,681...68,225,862
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|
G |
Tor1aip2 |
torsin 1A interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:68,225,226...68,256,536
Ensembl chr13:68,230,009...68,256,536 Ensembl chr13:68,230,009...68,256,536
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G |
Tor3a |
torsin family 3, member A |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:68,769,893...68,798,738
Ensembl chr13:68,769,605...68,798,475
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G |
Vamp4 |
vesicle-associated membrane protein 4 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:74,919,872...74,942,791
Ensembl chr13:74,919,880...74,933,686
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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 chr13:67,441,205...67,585,950
Ensembl chr13:67,446,380...67,585,946
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|
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 chr13:73,271,920...73,303,427
Ensembl chr13:73,280,544...73,337,124
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G |
Zfp648 |
zinc finger protein 648 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:66,337,098...66,344,963
Ensembl chr13:66,342,427...66,344,031
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G |
Fgf8 |
fibroblast growth factor 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12223415 |
|
NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
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G |
Six1 |
SIX homeobox 1 |
|
ISO |
|
RGD |
PMID:21364285 |
RGD:11561941 |
NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975
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|
G |
Tbx1 |
T-box transcription factor 1 |
|
ISO |
|
RGD |
PMID:16452092 |
RGD:155663362 |
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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G |
Ankrd28 |
ankyrin repeat domain 28 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr16:6,918,487...7,050,244
Ensembl chr16:6,914,336...7,050,249
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G |
Btd |
biotinidase |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945
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G |
C4h3orf20 |
similar to human chromosome 3 open reading frame 20 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 4:124,422,033...124,470,657
Ensembl chr 4:124,432,193...124,469,254
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G |
Capn7 |
calpain 7 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr16:6,545,630...6,581,908
Ensembl chr16:6,545,731...6,581,905
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G |
Ccdc174 |
coiled-coil domain containing 174 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 4:124,392,183...124,419,035
Ensembl chr 4:124,392,274...124,419,035
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G |
Chchd4 |
coiled-coil-helix-coiled-coil-helix domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 4:123,968,264...123,977,398
Ensembl chr 4:123,968,265...123,977,414 Ensembl chr 1:123,968,265...123,977,414
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G |
Colq |
collagen like tail subunit of asymmetric acetylcholinesterase |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr16:6,731,850...6,824,973
Ensembl chr16:6,731,858...6,787,107
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G |
Dazl |
deleted in azoospermia-like |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:10,695,593...10,712,330
Ensembl chr 9:10,695,592...10,712,323
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G |
Dph3 |
diphthamide biosynthesis 3 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr16:7,288,295...7,293,734
Ensembl chr16:7,282,705...7,291,265
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G |
Eaf1 |
ELL associated factor 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr16:6,698,322...6,713,071
Ensembl chr16:6,698,322...6,713,071
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G |
Efhb |
EF hand domain family, member B |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:6,372,191...6,441,678
Ensembl chr 9:6,372,194...6,441,919
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G |
Fbln2 |
fibulin 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 4:123,704,289...123,763,857
Ensembl chr 4:123,704,373...123,763,948
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G |
Fgd5 |
FYVE, RhoGEF and PH domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 4:124,497,061...124,594,564
Ensembl chr 4:124,497,068...124,594,563
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G |
Galnt15 |
polypeptide N-acetylgalactosaminyltransferase 15 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr16:7,227,232...7,267,002
Ensembl chr16:7,227,271...7,267,014
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G |
Grip2 |
glutamate receptor interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 4:124,271,456...124,356,538
Ensembl chr 4:124,271,456...124,321,268
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G |
Hacl1 |
2-hydroxyacyl-CoA lyase 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr16:6,826,881...6,863,027
Ensembl chr16:6,824,906...6,863,027
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G |
Hdac11 |
histone deacetylase 11 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 4:123,645,873...123,667,407
Ensembl chr 4:123,650,157...123,667,405
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G |
Kat2b |
lysine acetyltransferase 2B |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:6,562,525...6,667,064
Ensembl chr 9:6,562,288...6,667,064
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G |
Kcnh8 |
potassium voltage-gated channel subfamily H member 8 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:5,506,044...5,945,828
Ensembl chr 9:5,506,044...5,945,828
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G |
Lsm3 |
LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 4:124,021,023...124,027,269
Ensembl chr 4:124,021,023...124,027,269
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G |
Mettl6 |
methyltransferase 6, tRNA N3-cytidine |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr16:6,683,820...6,699,013
Ensembl chr16:6,583,465...6,698,975
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G |
Mrps25 |
mitochondrial ribosomal protein S25 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 4:124,668,320...124,680,086
Ensembl chr 4:124,668,094...124,680,057
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G |
Nr2c2 |
nuclear receptor subfamily 2, group C, member 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 4:124,610,216...124,666,813
Ensembl chr 4:124,608,960...124,661,902
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G |
Nup210 |
nucleoporin 210 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 4:123,511,558...123,609,874
Ensembl chr 4:123,511,559...123,609,874
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G |
Oxnad1 |
oxidoreductase NAD-binding domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr16:7,293,470...7,322,540
Ensembl chr16:7,293,470...7,322,540
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G |
Plcl2 |
phospholipase C-like 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:3,292,564...3,477,009
Ensembl chr 9:3,292,695...3,477,009
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G |
Pp2d1 |
protein phosphatase 2C-like domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:6,512,282...6,533,653
Ensembl chr 9:6,512,657...6,533,639
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G |
Rab5a |
RAB5A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:6,483,906...6,512,877
Ensembl chr 9:6,484,469...6,512,873
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G |
Rbsn |
rabenosyn, RAB effector |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 4:124,682,228...124,712,578
Ensembl chr 4:124,683,969...124,712,578
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G |
Rftn1 |
raftlin lipid raft linker 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:10,804,611...11,002,084
Ensembl chr 9:10,804,611...11,002,084
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G |
Satb1 |
SATB homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251
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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 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894
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G |
Sh3bp5 |
SH3-domain binding protein 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr16:6,583,462...6,678,344
Ensembl chr16:6,583,465...6,698,975
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G |
Slc6a6 |
solute carrier family 6 member 6 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 4:124,195,186...124,268,880
Ensembl chr 4:124,195,218...124,268,875
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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 chr 9:3,503,328...4,017,131
Ensembl chr 9:3,513,623...4,016,913
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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 4:146,185,422...146,209,802
Ensembl chr 4:146,185,503...146,211,246
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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 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
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G |
Wnt7a |
Wnt family member 7A |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981
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G |
Xpc |
XPC complex subunit, DNA damage recognition and repair factor |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010
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G |
Sox9 |
SRY-box transcription factor 9 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 10 |
ClinVar OMIM |
PMID:6620326 PMID:22051515 PMID:25604083 |
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NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
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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 chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333
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G |
Zbtb18 |
zinc finger and BTB domain containing 18 |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 22 | ClinVar Annotator: match by term: ZBTB18-related disorder |
OMIM ClinVar |
PMID:24193349 PMID:25741868 PMID:26740508 PMID:27598823 PMID:28135719 PMID:28283832 PMID:28492532 PMID:29158550 PMID:29573576 PMID:31238879 PMID:33608456 More...
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NCBI chr13:89,439,501...89,447,958
Ensembl chr13:89,439,420...89,448,862
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G |
Bmpr1a |
bone morphogenetic protein receptor type 1A |
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ISS |
OMIM:612242 |
MouseDO |
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NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616
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G |
Elp4 |
elongator acetyltransferase complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: 11p deletion syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
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G |
Pax6 |
paired box 6 |
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ISO |
ClinVar Annotator: match by term: 11p deletion syndrome |
ClinVar |
PMID:9727514 PMID:10234503 PMID:12634864 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18483559 PMID:18776953 PMID:22692063 PMID:25741868 PMID:26604670 PMID:26661695 PMID:28321846 PMID:28492532 More...
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NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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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:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8621495 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:9745866 PMID:9817285 PMID:10094551 PMID:10470095 PMID:10505699 PMID:10505700 PMID:10561752 PMID:10670748 PMID:10762296 PMID:10792605 PMID:11007843 PMID:11182928 PMID:12050205 PMID:12640141 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:16439601 PMID:16987884 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:19048299 PMID:19484379 PMID:20442690 PMID:21499692 PMID:21508141 PMID:22099579 PMID:22703879 PMID:22815844 PMID:22908070 PMID:23295293 PMID:23302619 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24161391 PMID:24728327 PMID:24856380 PMID:25349199 PMID:25451826 PMID:25501161 PMID:25623218 PMID:25741868 PMID:25813279 PMID:25818337 PMID:26069768 PMID:26248470 PMID:26467025 PMID:27013732 PMID:27719739 PMID:27854218 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28811308 PMID:29474669 PMID:29668062 PMID:30406062 PMID:30655312 PMID:30963316 PMID:31970404 PMID:32352694 PMID:32581362 PMID:32604935 PMID:32891756 PMID:34490048 PMID:34622098 PMID:35211794 PMID:35904974 PMID:36349777 PMID:36980135 More...
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NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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G |
Acod1 |
aconitate decarboxylase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,871,819...79,881,101
Ensembl chr15:79,871,827...79,880,529
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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 chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601
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G |
Arl11 |
ARF like GTPase 11 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,483,330...35,485,579
Ensembl chr15:35,480,018...35,496,596
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G |
Atp7b |
ATPase copper transporting beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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G |
Bora |
bora, aurora kinase A activator |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:75,797,624...75,835,599
Ensembl chr15:75,797,891...75,821,322
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G |
C15h13orf42 |
similar to human chromosome 13 open reading frame 42 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,674,840...36,701,304
Ensembl chr15:36,677,527...36,701,211
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G |
Cab39l |
calcium binding protein 39-like |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,606,588...33,710,518
Ensembl chr15:33,606,694...33,743,545
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G |
Ccdc70 |
coiled-coil domain containing 70 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr16:70,037,309...70,042,401
Ensembl chr16:70,037,309...70,042,339
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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 chr15:33,726,590...33,755,611
Ensembl chr15:33,723,435...33,755,576
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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 chr16:69,839,668...69,864,852
Ensembl chr16:69,839,630...69,864,913
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G |
Cln5 |
CLN5, intracellular trafficking protein |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438 Ensembl chr 2:79,893,548...79,903,438
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G |
Cnmd |
chondromodulin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,041,548...55,066,297
Ensembl chr15:55,041,561...55,066,297
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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 chr15:78,467,333...78,474,382
Ensembl chr15:78,467,804...78,474,382
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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 chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136
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G |
Dach1 |
dachshund family transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:74,528,122...74,909,811
Ensembl chr15:74,529,208...74,909,922
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G |
Diaph3 |
diaphanous-related formin 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975
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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 chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642
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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 chr15:36,479,533...36,495,730
Ensembl chr15:36,479,534...36,495,697
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G |
Ebpl |
EBP like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,508,074...35,531,472
Ensembl chr15:35,508,074...35,531,472
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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 chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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G |
Fam124a |
family with sequence similarity 124 member A |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,799,836...36,855,062
Ensembl chr15:36,799,877...36,853,683
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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 chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867
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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 chr15:47,689,909...47,867,354
Ensembl chr15:47,689,919...47,866,784
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G |
Ints6 |
integrator complex subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,908,966...37,048,043
Ensembl chr15:36,933,724...37,021,527
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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 chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
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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 chr15:35,774,456...35,779,409
Ensembl chr15:35,774,326...35,779,415
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G |
Kctd12 |
potassium channel tetramerization domain containing 12 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,800,078...79,806,017
Ensembl chr15:79,801,191...79,806,282
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G |
Klf12 |
KLF transcription factor 12 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:76,628,778...77,062,000
Ensembl chr15:76,637,654...77,062,056
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Klf5 |
KLF transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445
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G |
Klhl1 |
kelch-like family member 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:72,698,191...73,142,726
Ensembl chr15:72,699,094...73,142,594
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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 chr15:35,536,310...35,610,066
Ensembl chr15:35,536,316...35,610,419
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G |
Lmo7 |
LIM domain 7 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:78,566,999...78,769,833
Ensembl chr15:78,567,023...78,769,783
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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 chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331
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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 chr15:48,696,542...48,706,818
Ensembl chr15:48,696,511...48,706,820
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G |
Mycbp2 |
MYC binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,937,354...80,175,432
Ensembl chr15:79,937,354...80,175,498
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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 chr15:75,787,281...75,797,589
Ensembl chr15:75,786,994...75,797,589
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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 chr15:82,032,366...82,087,043
Ensembl chr15:82,032,366...82,086,317
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G |
Nek3 |
NIMA-related kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,867,020...69,892,477
Ensembl chr16:69,867,047...69,892,508
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G |
Nek5 |
NIMA-related kinase 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,895,414...69,938,668
Ensembl chr16:69,895,422...69,939,429
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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 chr15:48,707,776...48,713,847
Ensembl chr15:48,709,700...48,747,363
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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 chr15:81,269,413...81,308,734
Ensembl chr15:81,269,416...81,308,734
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G |
Olfm4 |
olfactomedin 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,385,100...55,429,687
Ensembl chr15:55,407,148...55,429,681
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G |
Pcdh17 |
protocadherin 17 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:60,222,088...60,316,172
Ensembl chr15:60,222,004...60,313,999
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G |
Pcdh20 |
protocadherin 20 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:64,425,534...64,431,790
Ensembl chr15:64,425,534...64,431,790
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G |
Pcdh8 |
protocadherin 8 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,198,470...55,203,039
Ensembl chr15:55,198,459...55,205,872
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G |
Pcdh9 |
protocadherin 9 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:69,340,108...70,237,531
Ensembl chr15:69,340,645...70,237,538
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G |
Phf11 |
PHD finger protein 11 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,390,290...33,414,647
Ensembl chr15:33,390,292...33,413,009
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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 chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712
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G |
Pou4f1 |
POU class 4 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:81,253,714...81,260,057
Ensembl chr15:81,257,781...81,259,728
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G |
Prr20e |
proline rich 20E |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr 4:121,566,632...121,574,734
Ensembl chr 4:121,571,797...121,573,140
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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 chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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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 chr15:81,884,783...81,964,245
Ensembl chr15:81,887,219...81,964,118
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G |
Rcbtb1 |
RCC1 and BTB domain containing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:33,319,586...33,362,421
Ensembl chr15:33,319,586...33,365,302
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G |
Rcbtb2 |
RCC1 and BTB domain containing protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,319,809...48,364,441
Ensembl chr15:48,323,866...48,383,750
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G |
Rnaseh2b |
ribonuclease H2, subunit B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
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G |
Scel |
sciellin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:80,339,661...80,456,546
Ensembl chr15:80,339,951...80,456,372
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G |
Serpine3 |
serpin family E member 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,908,816...36,931,825
Ensembl chr15:36,907,131...36,933,150
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G |
Setdb2 |
SET domain bifurcated histone lysine methyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,553,657...33,606,586
Ensembl chr15:33,453,952...33,606,470
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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 chr15:80,482,818...80,542,461
Ensembl chr15:80,482,367...80,542,350
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G |
Slitrk1 |
SLIT and NTRK-like family, member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:85,723,252...85,727,290
Ensembl chr15:85,724,475...85,727,509
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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 chr15:87,563,506...87,570,125
Ensembl chr15:87,563,322...87,570,393
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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 chr15:82,692,291...82,697,408
Ensembl chr15:82,692,143...82,698,009
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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 chr15:35,707,185...35,727,704
Ensembl chr15:35,707,060...35,727,509
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G |
Sucla2 |
succinate-CoA ligase ADP-forming subunit beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138
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G |
Sugt1 |
SGT1 homolog, MIS12 kinetochore complex assembly cochaperone |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:54,991,419...55,032,244
Ensembl chr15:54,990,672...55,069,150
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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 chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265
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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 chr15:63,340,531...63,497,208
Ensembl chr15:63,341,235...63,476,110
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G |
Thsd1 |
thrombospondin type 1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
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G |
Trim13 |
tripartite motif-containing 13 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:35,733,548...35,772,676
Ensembl chr15:35,734,107...35,772,677
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G |
Uchl3 |
ubiquitin C-terminal hydrolase L3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:78,485,304...78,527,355
Ensembl chr15:78,485,315...78,527,355 Ensembl chr 3:78,485,315...78,527,355
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G |
Vps36 |
vacuolar protein sorting 36 homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr16:69,810,404...69,834,789
Ensembl chr16:69,808,193...69,834,810
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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 chr15:37,083,842...37,209,559
Ensembl chr15:37,042,987...37,209,304
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G |
Apba2 |
amyloid beta precursor protein binding family A member 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:118,053,270...118,286,858
Ensembl chr 1:118,103,219...118,285,699
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G |
Atp10a |
ATPase phospholipid transporting 10A (putative) |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:109,556,760...109,730,440
Ensembl chr 1:109,556,782...109,730,437
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G |
Auts2 |
activator of transcription and developmental regulator AUTS2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25205402 PMID:25741868 PMID:28505103 |
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NCBI chr12:24,104,187...25,194,123
Ensembl chr12:24,104,192...25,194,416
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G |
Ccdc92b |
coiled-coil domain containing 92B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:59,479,798...59,501,486
Ensembl chr10:59,479,743...59,501,495
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G |
Chrna7 |
cholinergic receptor nicotinic alpha 7 subunit |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
|
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NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240
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G |
Cluh |
clustered mitochondria homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr10:59,509,580...59,531,345
Ensembl chr10:59,509,726...59,531,345
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G |
Cyfip1 |
cytoplasmic FMR1 interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:36901699 |
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NCBI chr 1:106,710,924...106,799,393
Ensembl chr 1:106,711,016...106,799,386
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G |
Entrep2 |
endosomal transmembrane epsin interactor 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:118,288,365...118,700,514
Ensembl chr 1:118,288,379...118,700,671
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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 1:108,268,728...108,381,670
Ensembl chr 1:108,268,776...108,380,917
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G |
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 |
|
NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961
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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 |
|
NCBI chr 1:107,627,450...108,247,483
Ensembl chr 1:107,627,390...108,246,763
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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 |
|
NCBI chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134
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G |
LOC120100287 |
small nucleolar RNA SNORD115 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:110,313,740...110,313,816
Ensembl chr 1:110,313,740...110,313,816
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G |
LOC120100291 |
small nucleolar RNA SNORD115 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:110,322,055...110,322,131
Ensembl chr 1:110,322,055...110,322,131
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G |
Magel2 |
MAGE family member L2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:115,880,142...115,884,684
Ensembl chr 1:115,880,474...115,884,250
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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 |
|
NCBI chr 1:115,926,774...115,929,288
Ensembl chr 1:115,926,776...115,929,283
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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 |
|
NCBI chr 1:115,849,168...115,850,767
Ensembl chr 1:115,849,105...115,850,767
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G |
Nipa1 |
NIPA magnesium transporter 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:36901699 |
|
NCBI chr 1:106,834,000...106,875,148
Ensembl chr 1:106,834,000...106,874,790
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G |
Nipa2 |
NIPA magnesium transporter 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:36901699 |
|
NCBI chr 1:106,799,979...106,824,206
Ensembl chr 1:106,800,903...106,824,126
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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 |
|
NCBI chr 1:118,401,302...118,402,629
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G |
Oca2 |
OCA2 melanosomal transmembrane protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
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G |
Otud7a |
OTU deubiquitinase 7A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
|
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NCBI chr 1:117,064,428...117,388,217
Ensembl chr 1:117,064,496...117,386,480
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G |
Pafah1b1 |
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808
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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 |
|
NCBI chr10:59,255,400...59,472,536
Ensembl chr10:59,255,278...59,472,170
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G |
Snord107 |
small nucleolar RNA, C/D box 107 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:111,099,306...111,099,377
Ensembl chr 1:111,099,306...111,099,377
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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:25741868 PMID:31690835 |
|
NCBI chr 1:111,094,909...111,094,975
Ensembl chr 1:111,094,909...111,094,975
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G |
Snrpn |
small nuclear ribonucleoprotein polypeptide N |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:111,101,327...111,123,400
Ensembl chr 1:111,101,329...111,123,634
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G |
Snurf |
SNRPN upstream open reading frame |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:111,101,327...111,123,634
Ensembl chr 1:111,101,329...111,123,634
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G |
Tjp1 |
tight junction protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432
|
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G |
Tubgcp5 |
tubulin gamma complex component 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:36901699 |
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NCBI chr 1:106,636,526...106,672,175
Ensembl chr 1:106,636,526...106,672,175
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G |
Ube3a |
ubiquitin protein ligase E3A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:110,070,260...110,161,675
Ensembl chr 1:110,070,480...110,157,250
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G |
Chrna7 |
cholinergic receptor nicotinic alpha 7 subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
CTD ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240
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G |
Fan1 |
FANCD2 and FANCI associated nuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:117,915,323...117,945,044
Ensembl chr 1:117,917,099...117,944,977
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G |
Klf13 |
KLF transcription factor 13 |
|
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 1:117,505,857...117,536,626
Ensembl chr 1:117,503,602...117,551,227
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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 1:117,777,539...117,777,644
Ensembl chr 1:117,777,539...117,777,644
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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 1:117,859,355...117,910,839
Ensembl chr 1:117,859,267...117,910,849
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G |
Otud7a |
OTU deubiquitinase 7A |
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ISS ISO |
OMIM:612001 ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
MouseDO ClinVar |
PMID:31690835 |
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NCBI chr 1:117,064,428...117,388,217
Ensembl chr 1:117,064,496...117,386,480
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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 1:117,718,896...117,835,434
Ensembl chr 1:117,718,896...117,834,605
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G |
Cimap1c |
ciliary microtubule associated protein 1C |
|
ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr 8:57,248,746...57,281,084
Ensembl chr 8:57,248,746...57,281,004
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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 8:57,566,236...57,569,701
Ensembl chr 8:57,566,236...57,569,760
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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 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010
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G |
Imp3 |
IMP U3 small nucleolar ribonucleoprotein 3 |
|
ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr 8:57,339,528...57,340,416
Ensembl chr 8:57,339,496...57,340,414
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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 8:57,537,879...57,549,691
Ensembl chr 8:57,537,321...57,549,690
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G |
Neil1 |
nei-like DNA glycosylase 1 |
|
ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258
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G |
Ptpn9 |
protein tyrosine phosphatase, non-receptor type 9 |
|
ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr 8:57,391,290...57,472,352
Ensembl chr 8:57,391,259...57,470,952
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G |
Sin3a |
SIN3 transcription regulator family member A |
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ISO |
ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome | ClinVar Annotator: match by term: SIN3A-related condition | ClinVar Annotator: match by term: SIN3A-related intellectual disability syndrome | ClinVar Annotator: match by term: Witteveen-kolk syndrome |
OMIM ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 PMID:25741868 PMID:27399968 PMID:28492532 PMID:30267900 PMID:35144002 More...
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NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192
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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 8:57,347,412...57,388,345
Ensembl chr 8:57,348,130...57,380,912
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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 8:57,315,861...57,328,522
Ensembl chr 8:57,317,161...57,327,538
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G |
Adamts17 |
ADAM metallopeptidase with thrombospondin type 1 motif, 17 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:120,445,800...120,768,204
Ensembl chr 1:120,445,749...120,768,202
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G |
Aldh1a3 |
aldehyde dehydrogenase 1 family, member A3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:119,982,272...120,017,416
Ensembl chr 1:119,982,277...120,017,436
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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 |
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NCBI chr 1:120,222,835...120,267,411
Ensembl chr 1:120,222,745...120,267,282
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G |
Cers3 |
ceramide synthase 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:120,316,930...120,422,926
Ensembl chr 1:120,318,212...120,422,902
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G |
Chsy1 |
chondroitin sulfate synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:119,689,626...119,750,711
Ensembl chr 1:119,686,350...119,750,601
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G |
Igf1r |
insulin-like growth factor 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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G |
Lins1 |
lines homolog 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:120,267,586...120,295,013
Ensembl chr 1:120,267,693...120,293,607
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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 |
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NCBI chr 1:121,116,833...121,245,805
Ensembl chr 1:121,127,733...121,245,784
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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 |
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NCBI chr 1:119,844,360...119,972,885
Ensembl chr 1:119,845,146...119,979,734
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G |
Lysmd4 |
LysM domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:120,839,180...120,845,148
Ensembl chr 1:120,839,282...120,845,135
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G |
Mef2a |
myocyte enhancer factor 2a |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:120,847,874...120,982,488
Ensembl chr 1:120,850,080...120,981,948
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G |
Pgpep1l |
pyroglutamyl-peptidase I-like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:121,835,243...121,868,368
Ensembl chr 1:121,840,697...121,869,407
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G |
Synm |
synemin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:121,333,712...121,363,652
Ensembl chr 1:121,333,720...121,363,652
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G |
Ttc23 |
tetratricopeptide repeat domain 23 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:121,245,996...121,329,500
Ensembl chr 1:121,248,084...121,329,494
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G |
Atp2a1 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 |
|
ISO |
ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
|
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NCBI chr 1:181,026,606...181,044,859
Ensembl chr 1:181,026,608...181,044,838
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G |
Atxn2l |
ataxin 2-like |
|
ISO |
ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
|
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NCBI chr 1:181,078,293...181,090,079
Ensembl chr 1:181,078,288...181,089,686
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G |
Cd19 |
CD19 molecule |
|
ISO |
ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
|
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NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
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G |
Eif3c |
eukaryotic translation initiation factor 3, subunit C |
|
ISO |
ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
|
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NCBI chr 1:181,134,604...181,152,489
Ensembl chr 1:181,134,604...181,152,493
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G |
Lat |
linker for activation of T cells |
|
ISO |
ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
|
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NCBI chr 1:180,936,536...180,941,561
Ensembl chr 1:180,936,534...180,941,578
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G |
Nfatc2ip |
nuclear factor of activated T-cells 2 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
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NCBI chr 1:180,954,834...180,971,847
Ensembl chr 1:180,955,043...180,971,747
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G |
Rabep2 |
rabaptin, RAB GTPase binding effector protein 2 |
|
ISO |
ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
|
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NCBI chr 1:181,010,305...181,026,651
Ensembl chr 1:181,010,305...181,026,648
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G |
Sh2b1 |
SH2B adaptor protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome, 220 kb | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29631267 PMID:31439647 |
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NCBI chr 1:181,048,622...181,057,036
Ensembl chr 1:181,048,623...181,056,579
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G |
Spns1 |
SPNS lysolipid transporter 1, lysophospholipid |
|
ISO |
ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
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NCBI chr 1:180,942,088...180,949,415
Ensembl chr 1:180,942,088...180,949,370
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G |
Sult1a1 |
sulfotransferase family 1A member 1 |
|
ISO |
ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
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NCBI chr 1:181,272,022...181,276,750
Ensembl chr 1:181,272,023...181,275,562
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G |
Tufm |
Tu translation elongation factor, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
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NCBI chr 1:181,073,788...181,077,395
Ensembl chr 1:181,073,788...181,077,395
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G |
Aldoa |
aldolase, fructose-bisphosphate A |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182
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G |
Aldoart2 |
aldolase 1 A retrogene 2 |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709
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G |
Asphd1 |
aspartate beta-hydroxylase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:181,552,968...181,556,902
Ensembl chr 1:181,552,884...181,556,090
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G |
Atp2a1 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 1:181,026,606...181,044,859
Ensembl chr 1:181,026,608...181,044,838
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G |
Atxn2l |
ataxin 2-like |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 1:181,078,293...181,090,079
Ensembl chr 1:181,078,288...181,089,686
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G |
Bola2 |
bolA family member 2 |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
|
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NCBI chr 1:181,291,967...181,292,833
Ensembl chr 1:181,291,398...181,292,676
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G |
C1h16orf54 |
similar to human chromosome 16 open reading frame 54 |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:181,702,447...181,705,128
Ensembl chr 1:181,702,503...181,705,835
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G |
C1h16orf92 |
similar to human chromosome 16 open reading frame 92 |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:181,434,524...181,441,000
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G |
Cd19 |
CD19 molecule |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
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G |
Cdipt |
CDP-diacylglycerol--inositol 3-phosphatidyltransferase |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:181,583,098...181,587,409
Ensembl chr 1:181,583,141...181,587,408
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G |
Cdiptos |
CDIP transferase, opposite strand |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 1:181,579,385...181,583,017
Ensembl chr 1:181,579,387...181,582,860
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G |
Coro1a |
coronin 1A |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534
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G |
Doc2a |
double C2 domain alpha |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:181,457,415...181,462,528
Ensembl chr 1:181,458,390...181,462,030
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G |
Eif3c |
eukaryotic translation initiation factor 3, subunit C |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,134,604...181,152,489
Ensembl chr 1:181,134,604...181,152,493
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G |
Gdpd3 |
glycerophosphodiester phosphodiesterase domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063
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G |
Hirip3 |
HIRA interacting protein 3 |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:181,472,537...181,475,082
Ensembl chr 1:181,472,056...181,475,079
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G |
Ino80e |
INO80 complex subunit E |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:181,461,406...181,472,059
Ensembl chr 1:181,461,408...181,472,469
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G |
Kctd13 |
potassium channel tetramerization domain containing 13 |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:181,534,534...181,552,843
Ensembl chr 1:181,534,515...181,552,881
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G |
Kif22 |
kinesin family member 22 |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401
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G |
Lat |
linker for activation of T cells |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 1:180,936,536...180,941,561
Ensembl chr 1:180,936,534...180,941,578
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G |
Mapk3 |
mitogen activated protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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G |
Maz |
MYC associated zinc finger protein |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:181,629,742...181,635,193
Ensembl chr 1:181,629,729...181,650,408
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G |
Mvp |
major vault protein |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380
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G |
Nfatc2ip |
nuclear factor of activated T-cells 2 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 1:180,954,834...180,971,847
Ensembl chr 1:180,955,043...180,971,747
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Pagr1 |
Paxip1-associated glutamate-rich protein 1 |
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ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:181,622,698...181,625,024
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Ppp4c |
protein phosphatase 4, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:181,392,899...181,399,703
Ensembl chr 1:181,392,923...181,399,659
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G |
Prrt2 |
proline-rich transmembrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:181,625,243...181,628,833
Ensembl chr 1:181,604,545...181,628,850
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Qprt |
quinolinate phosphoribosyltransferase |
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ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:181,718,189...181,733,486
Ensembl chr 1:181,718,190...181,733,486
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Rabep2 |
rabaptin, RAB GTPase binding effector protein 2 |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 1:181,010,305...181,026,651
Ensembl chr 1:181,010,305...181,026,648
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G |
Sez6l2 |
seizure related 6 homolog like 2 |
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ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:181,557,109...181,577,456
Ensembl chr 1:181,557,109...181,577,456
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G |
Sftpa1 |
surfactant protein A1 |
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ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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G |
Sh2b1 |
SH2B adaptor protein 1 |
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ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 1:181,048,622...181,057,036
Ensembl chr 1:181,048,623...181,056,579
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G |
Slx1b |
SLX1 homolog B, structure-specific endonuclease subunit |
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ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,286,190...181,291,739
Ensembl chr 1:181,283,921...181,291,775
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G |
Spn |
sialophorin |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:181,746,937...181,759,564
Ensembl chr 1:181,746,429...181,759,628
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G |
Spns1 |
SPNS lysolipid transporter 1, lysophospholipid |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 1:180,942,088...180,949,415
Ensembl chr 1:180,942,088...180,949,370
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G |
Taok2 |
TAO kinase 2 |
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ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:181,475,708...181,494,738
Ensembl chr 1:181,475,711...181,494,613
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G |
Tbx6 |
T-box transcription factor 6 |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593
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G |
Tlcd3b |
TLC domain containing 3B |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743
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G |
Tmem219 |
transmembrane protein 219 |
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ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:181,496,195...181,509,259
Ensembl chr 1:181,496,192...181,534,472
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G |
Tufm |
Tu translation elongation factor, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 1:181,073,788...181,077,395
Ensembl chr 1:181,073,788...181,077,395
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G |
Ypel3 |
yippee-like 3 |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:181,384,385...181,387,706
Ensembl chr 1:181,384,357...181,387,705
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G |
Zg16 |
zymogen granule protein 16 |
|
ISO |
ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:181,657,722...181,660,079
Ensembl chr 1:181,657,722...181,660,079
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G |
Cdr2 |
cerebellar degeneration-related protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb |
ClinVar |
PMID:25741868 |
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NCBI chr 1:175,502,837...175,527,746
Ensembl chr 1:175,502,838...175,537,472
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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 |
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NCBI chr 1:175,393,119...175,456,756
Ensembl chr 1:175,393,154...175,455,164
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G |
Mosmo |
modulator of smoothened |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb |
ClinVar |
PMID:25741868 |
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NCBI chr 1:175,217,680...175,288,521
Ensembl chr 1:175,217,545...175,288,334
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G |
Pdzd9 |
PDZ domain containing 9 |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb |
ClinVar |
PMID:25741868 |
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NCBI chr 1:175,188,270...175,217,491
Ensembl chr 1:175,197,641...175,210,880
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G |
Polr3e |
RNA polymerase III subunit E |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb |
ClinVar |
PMID:25741868 |
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NCBI chr 1:175,466,091...175,494,679
Ensembl chr 1:175,466,127...175,494,667
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G |
Sdr42e2 |
short chain dehydrogenase/reductase family 42E, member 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb |
ClinVar |
PMID:25741868 |
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NCBI chr 1:175,361,630...175,382,769
Ensembl chr 1:175,362,150...175,382,050
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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 1:175,167,933...175,198,499
Ensembl chr 1:175,167,894...175,199,453
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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 1:175,293,782...175,355,588
Ensembl chr 1:175,293,873...175,355,602
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G |
Acd |
ACD, shelterin complex subunit and telomerase recruitment factor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr19:33,586,739...33,589,481
Ensembl chr19:33,586,745...33,589,461
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G |
C19h16orf86 |
similar to human chromosome 16 open reading frame 86 |
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ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,596,591...33,598,703
Ensembl chr19:33,595,995...33,598,521
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G |
Carmil2 |
capping protein regulator and myosin 1 linker 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,571,255...33,586,783
Ensembl chr19:33,574,257...33,586,965
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G |
Ctcf |
CCCTC-binding factor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
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G |
Enkd1 |
enkurin domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,592,074...33,596,552
Ensembl chr19:33,592,078...33,596,545
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G |
Gfod2 |
Gfo/Idh/MocA-like oxidoreductase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,599,689...33,647,060
Ensembl chr19:33,604,187...33,647,004
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G |
Pard6a |
par-6 family cell polarity regulator alpha |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,589,531...33,591,900
Ensembl chr19:33,589,542...33,591,900
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G |
Ranbp10 |
RAN binding protein 10 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr19:33,656,046...33,716,864
Ensembl chr19:33,656,046...33,717,033
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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 chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951
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G |
Tp53 |
tumor protein p53 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14961032 |
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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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 chr10:65,170,560...65,189,791
Ensembl chr10:65,170,560...65,262,804
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G |
Aatf |
apoptosis antagonizing transcription factor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:69,299,029...69,392,207
Ensembl chr10:69,299,037...69,392,201
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G |
Acaca |
acetyl-CoA carboxylase alpha |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
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G |
C10h17orf78 |
similar to human chromosome 17 open reading frame 78 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:69,034,887...69,054,100
Ensembl chr10:69,037,708...69,054,113
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G |
Ccl3 |
C-C motif chemokine ligand 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:24088041 PMID:26633545 |
|
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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G |
Ccl4 |
C-C motif chemokine ligand 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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G |
Ddx52 |
DExD-box helicase 52 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
|
NCBI chr10:68,824,594...68,847,400
Ensembl chr10:68,824,645...68,848,266
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G |
Dhrs11 |
dehydrogenase/reductase 11 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:69,698,214...69,708,294
Ensembl chr10:69,698,214...69,708,295
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G |
Dusp14 |
dual specificity phosphatase 14 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:68,936,483...68,966,347
Ensembl chr10:68,935,330...68,965,329
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G |
Ggnbp2 |
gametogenetin binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:69,711,527...69,743,134
Ensembl chr10:69,711,532...69,743,365
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G |
Hnf1b |
HNF1 homeobox B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
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G |
Lhx1 |
LIM homeobox 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 chr10:69,396,829...69,403,617
Ensembl chr10:69,396,829...69,403,617
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G |
Mrm1 |
mitochondrial rRNA methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:69,690,406...69,697,326
Ensembl chr10:69,690,421...69,696,709
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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 chr10:82,308,650...82,320,474
Ensembl chr10:82,308,427...82,320,474
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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 chr10:69,753,082...69,782,450
Ensembl chr10:69,753,068...69,782,450
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G |
Pigw |
phosphatidylinositol glycan anchor biosynthesis, class W |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
|
NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475
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G |
Synrg |
synergin, gamma |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:68,848,828...68,931,252
Ensembl chr10:68,849,642...68,931,250
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G |
Tada2a |
transcriptional adaptor 2A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
|
NCBI chr10:68,966,502...69,014,149
Ensembl chr10:68,966,502...69,014,105
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G |
Znhit3 |
zinc finger, HIT-type containing 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
|
NCBI chr10:69,775,885...69,790,471
Ensembl chr10:69,748,789...69,790,475 Ensembl chr10:69,748,789...69,790,475
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G |
Slc2a1 |
solute carrier family 2 member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q23.1-q23.2 deletion syndrome |
ClinVar |
PMID:12325075 PMID:17052934 PMID:17718830 PMID:19798636 PMID:21546317 PMID:25326635 PMID:25741868 PMID:26193382 PMID:28492532 More...
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NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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G |
Afg3l2 |
AFG3 like matrix AAA peptidase subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110
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G |
Akain1 |
A-kinase anchor inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:109,389,654...109,436,029
Ensembl chr 9:109,389,736...109,435,067
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G |
Ankrd12 |
ankyrin repeat domain 12 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:105,583,273...105,687,957
Ensembl chr 9:105,584,065...105,687,911
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G |
Apcdd1 |
APC down-regulated 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr18:56,385,398...56,416,065
Ensembl chr18:56,385,264...56,416,070
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G |
Arhgap28 |
Rho GTPase activating protein 28 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:107,832,584...107,998,030
Ensembl chr 9:107,833,330...107,998,000
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G |
Cep192 |
centrosomal protein 192 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:61,373,937...61,458,405
Ensembl chr18:61,332,158...61,458,379
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G |
Cep76 |
centrosomal protein 76 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:61,174,514...61,208,512
Ensembl chr18:61,178,310...61,208,504
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G |
Chmp1b |
charged multivesicular body protein 1B |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:60,740,349...60,742,879
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G |
Cidea |
cell death-inducing DFFA-like effector a |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr18:60,894,917...60,920,485
Ensembl chr18:60,894,874...60,920,481
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G |
Dlgap1 |
DLG associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:109,857,500...110,726,817
Ensembl chr 9:110,167,448...110,726,817
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G |
Emilin2 |
elastin microfibril interfacer 2 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:111,160,708...111,220,463
Ensembl chr 9:111,160,712...111,220,352
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G |
Epb41l3 |
erythrocyte membrane protein band 4.1-like 3 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:109,056,178...109,260,607
Ensembl chr 9:109,016,113...109,260,607
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G |
Fam210a |
family with sequence similarity 210, member A |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr18:61,846,447...61,886,123
Ensembl chr18:61,852,907...61,886,171
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G |
Gnal |
G protein subunit alpha L |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr18:60,622,311...60,762,599
Ensembl chr18:60,622,311...60,762,599
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G |
Impa2 |
inositol monophosphatase 2 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr18:60,834,206...60,867,575
Ensembl chr18:60,834,246...60,865,641
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G |
L3mbtl4 |
L3MBTL histone methyl-lysine binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:108,295,004...108,747,879
Ensembl chr 9:108,329,669...108,747,774
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G |
Lama1 |
laminin subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:107,692,770...107,816,847
Ensembl chr 9:107,692,770...107,817,478
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G |
Ldlrad4 |
low density lipoprotein receptor class A domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr18:61,519,253...61,848,403
Ensembl chr18:61,521,428...61,843,238
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G |
Lpin2 |
lipin 2 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193
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G |
Lrrc30 |
leucine rich repeat containing 30 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:107,624,479...107,626,147
Ensembl chr 9:107,625,182...107,626,084
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G |
Mc2r |
melanocortin 2 receptor |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr18:62,001,980...62,015,567
Ensembl chr18:62,004,948...62,015,488
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G |
Mc5r |
melanocortin 5 receptor |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr18:61,915,188...61,920,229
Ensembl chr18:61,915,188...61,920,229
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G |
Mppe1 |
metallophosphoesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr18:60,763,418...60,781,553
Ensembl chr18:60,763,419...60,781,553
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G |
Mtcl1 |
microtubule crosslinking factor 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:106,305,282...106,441,782
Ensembl chr 9:106,321,098...106,442,203
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G |
Myl12a |
myosin light chain 12A |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:110,891,970...110,899,655
Ensembl chr 9:110,873,959...110,916,580
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G |
Myl12b |
myosin light chain 12B |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:110,873,855...110,888,187
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G |
Myom1 |
myomesin 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344
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G |
Napg |
NSF attachment protein gamma |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr18:56,439,620...56,459,159
Ensembl chr18:56,440,505...56,459,153
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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 chr 9:105,690,454...105,710,669
Ensembl chr 9:105,690,455...105,710,713
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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 chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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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 chr 9:105,391,271...105,450,626
Ensembl chr 9:105,391,412...105,450,633
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G |
Prelid3a |
PRELI domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr18:60,998,898...61,034,821
Ensembl chr18:61,017,764...61,031,883
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G |
Psmg2 |
proteasome assembly chaperone 2 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr18:61,208,669...61,227,671
Ensembl chr18:61,208,678...61,259,816
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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 |
|
NCBI chr18:61,229,012...61,294,662
Ensembl chr18:61,229,014...61,294,627
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G |
Ptprm |
protein tyrosine phosphatase, receptor type, M |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:106,639,573...107,343,698
Ensembl chr 9:106,639,573...107,343,698
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G |
Rab12 |
RAB12, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:106,480,301...106,506,895
Ensembl chr 9:106,480,301...106,506,910
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G |
Rab31 |
RAB31, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:105,246,712...105,382,973
Ensembl chr 9:105,246,709...105,381,253
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G |
Ralbp1 |
ralA binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:105,456,425...105,493,235
Ensembl chr 9:105,456,425...105,492,707
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G |
Rnmt |
RNA (guanine-7-) methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr18:61,886,230...61,909,775
Ensembl chr18:61,886,292...61,909,775
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G |
Seh1l |
SEH1-like nucleoporin |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr18:61,346,986...61,369,987
Ensembl chr18:61,332,158...61,458,379
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G |
Smchd1 |
structural maintenance of chromosomes flexible hinge domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665
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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 chr18:61,041,914...61,171,670
Ensembl chr18:61,041,290...61,171,899
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G |
Tgif1 |
TGFB-induced factor homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802
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G |
Tmem200c |
transmembrane protein 200C |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:108,806,063...108,811,901
Ensembl chr 9:108,805,787...108,812,226
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G |
Tubb6 |
tubulin, beta 6 class V |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418
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G |
Twsg1 |
twisted gastrulation BMP signaling modulator 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:105,533,116...105,567,460
Ensembl chr 9:105,533,136...105,567,479
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G |
Txndc2 |
thioredoxin domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:105,230,575...105,235,131
Ensembl chr 9:105,230,578...105,235,126
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G |
Vapa |
VAMP associated protein A |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:105,177,904...105,208,400
Ensembl chr 9:105,177,907...105,207,847
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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 |
|
NCBI chr 9:109,333,440...109,338,646
Ensembl chr 9:109,331,028...109,338,632
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G |
Adnp2 |
ADNP homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:73,571,870...73,597,088
Ensembl chr18:73,571,936...73,628,484
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G |
Ankrd29 |
ankyrin repeat domain 29 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:3,436,301...3,494,292
Ensembl chr18:3,436,303...3,494,296
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G |
Aqp4 |
aquaporin 4 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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G |
Ark2c |
arkadia C-terminal like ring finger ubiquitin ligase 2C |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:70,984,566...71,100,836
Ensembl chr18:70,989,731...71,100,836
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G |
Ark2n |
arkadia (RNF111) N-terminal like PKA signaling regulator 2N |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:71,155,956...71,243,655
Ensembl chr18:71,157,700...71,243,482
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G |
Asxl3 |
ASXL transcriptional regulator 3 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:13,593,529...13,766,324
Ensembl chr18:13,593,985...13,762,427
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G |
Atp5f1a |
ATP synthase F1 subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794
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G |
Atp9b |
ATPase phospholipid transporting 9B (putative) |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:74,176,863...74,368,993
Ensembl chr18:74,176,863...74,368,953
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G |
B4galt6 |
beta-1,4-galactosyltransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:11,958,382...12,015,247
Ensembl chr18:11,958,390...12,015,247
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G |
Bcl2 |
BCL2, apoptosis regulator |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
C18h18orf21 |
similar to human chromosome 18 open reading frame 21 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:15,779,349...15,786,772
Ensembl chr18:15,779,368...15,787,894
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G |
C18h18orf63 |
similar to human chromosome 18 open reading frame 63 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:78,159,334...78,202,317
Ensembl chr18:78,164,661...78,202,326
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G |
Cabyr |
calcium binding tyrosine phosphorylation regulated |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:3,892,062...3,904,391
Ensembl chr18:3,892,132...3,903,840
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G |
Cbln2 |
cerebellin 2 precursor |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:79,940,412...79,948,766
Ensembl chr18:79,942,590...79,947,855
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G |
Ccdc178 |
coiled-coil domain containing 178 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:13,074,834...13,472,732
Ensembl chr18:13,075,468...13,472,160
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G |
Cd226 |
CD226 molecule |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:82,449,924...82,545,107
Ensembl chr18:82,450,568...82,543,051
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G |
Cdh19 |
cadherin 19 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:27,935,915...28,047,490
Ensembl chr13:27,936,668...28,019,310
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G |
Cdh2 |
cadherin 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
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G |
Cdh20 |
cadherin 20 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:20,737,640...21,069,746
Ensembl chr13:20,738,081...21,068,676
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G |
Cdh7 |
cadherin 7 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:26,672,058...26,821,571
Ensembl chr13:26,672,484...26,819,846
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G |
Celf4 |
CUGBP, Elav-like family member 4 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:16,786,578...17,065,045
Ensembl chr18:16,786,867...17,064,786
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G |
Chst9 |
carbohydrate sulfotransferase 9 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:6,576,391...6,851,078
Ensembl chr18:6,577,348...6,850,868
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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 chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765
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G |
Cndp2 |
carnosine dipeptidase 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:78,039,924...78,057,030
Ensembl chr18:78,039,932...78,056,922
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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 chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457
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G |
Ctif |
cap binding complex dependent translation initiation factor |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:69,056,151...69,327,454
Ensembl chr18:69,059,519...69,327,385
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G |
Cyb5a |
cytochrome b5 type A |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:78,213,067...78,245,677
Ensembl chr18:78,202,342...78,258,535 Ensembl chr18:78,202,342...78,258,535
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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 |
|
NCBI chr18:78,087,972...78,109,910
Ensembl chr18:78,087,991...78,109,904
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G |
Dok6 |
docking protein 6 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:82,572,762...83,015,951
Ensembl chr18:82,572,762...83,015,951
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G |
Dsc1 |
desmocollin 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:11,499,936...11,556,801
Ensembl chr18:11,502,003...11,528,494
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G |
Dsc2 |
desmocollin 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
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G |
Dsc3 |
desmocollin 3 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:11,379,759...11,413,797
Ensembl chr18:11,377,347...11,413,797
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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 |
|
NCBI chr13:186,413...192,592
Ensembl chr13:175,805...192,647
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G |
Dsg1 |
desmoglein 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:11,674,687...11,705,383
Ensembl chr18:11,674,402...11,703,443
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G |
Dsg2 |
desmoglein 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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|
G |
Dsg3 |
desmoglein 3 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
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NCBI chr18:11,799,355...11,830,988
Ensembl chr18:11,798,900...11,830,818
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G |
Dsg4 |
desmoglein 4 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:11,720,844...11,757,927
Ensembl chr18:11,720,975...11,756,234
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G |
Dtna |
dystrobrevin, alpha |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
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NCBI chr18:14,687,193...14,944,232
Ensembl chr18:14,587,852...14,944,261
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G |
Dym |
dymeclin |
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ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
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NCBI chr18:68,605,131...68,900,905
Ensembl chr18:68,605,185...68,900,903
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G |
Elp2 |
elongator acetyltransferase complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
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NCBI chr18:15,885,940...15,921,564
Ensembl chr18:15,885,934...15,921,599
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G |
Epg5 |
ectopic P-granules 5 autophagy tethering factor |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
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NCBI chr18:71,403,990...71,502,079
Ensembl chr18:71,404,010...71,501,502
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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 chr18:78,319,577...78,634,695
Ensembl chr18:78,319,534...78,390,765
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G |
Fhod3 |
formin homology 2 domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
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NCBI chr18:15,993,079...16,425,796
Ensembl chr18:15,993,324...16,425,796
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G |
Galnt1 |
polypeptide N-acetylgalactosaminyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:15,489,015...15,568,849
Ensembl chr18:15,489,020...15,568,245
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G |
Galr1 |
galanin receptor 1 |
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ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr18:75,772,021...75,787,577
Ensembl chr18:75,772,023...75,787,577
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G |
Garem1 |
GRB2 associated regulator of MAPK1 subtype 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:12,420,169...12,585,323
Ensembl chr18:12,423,882...12,585,345
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G |
Haus1 |
HAUS augmin-like complex, subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:71,275,417...71,286,626
Ensembl chr18:71,273,537...71,286,660
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G |
Hdhd2 |
haloacid dehalogenase-like hydrolase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:70,488,315...70,526,471
Ensembl chr18:70,474,926...70,526,470
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G |
Hrh4 |
histamine receptor H4 |
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ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
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NCBI chr18:4,166,270...4,182,426
Ensembl chr18:4,166,270...4,246,345
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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 chr18:73,682,286...73,690,061
Ensembl chr18:73,682,286...73,688,045
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G |
Ier3ip1-ps1 |
immediate early response 3 interacting protein 1, pseudogene 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr 4:132,342,131...132,342,625
Ensembl chr 4:132,332,180...132,342,316
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G |
Impact |
impact RWD domain protein |
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ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:4,108,872...4,147,571
Ensembl chr18:4,108,853...4,147,569
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G |
Ino80c |
INO80 complex subunit C |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:15,378,764...15,398,574
Ensembl chr18:15,378,770...15,393,403
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G |
Katnal2 |
katanin catalytic subunit A1 like 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:70,531,759...70,607,886
Ensembl chr18:70,531,754...70,608,082
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G |
Kcng2 |
potassium voltage-gated channel modifier subfamily G member 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:73,742,224...73,810,420
Ensembl chr18:73,743,074...73,808,723
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G |
Kctd1 |
potassium channel tetramerization domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:6,122,390...6,316,434
Ensembl chr18:6,122,390...6,317,393
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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 chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108
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G |
Kiaa1328 |
KIAA1328 homolog |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:16,488,569...16,776,373
Ensembl chr18:16,489,408...16,775,548
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G |
Klhl14 |
kelch-like family member 14 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:12,804,253...12,917,828
Ensembl chr18:12,804,253...12,917,828
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G |
Lama3 |
laminin subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
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G |
Loxhd1 |
lipoxygenase homology PLAT domains 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:70,817,962...70,970,606
Ensembl chr18:70,818,276...70,969,983
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G |
Mapre2 |
microtubule-associated protein, RP/EB family, member 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:15,028,675...15,169,553
Ensembl chr18:15,029,041...15,168,044
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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 chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
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G |
Mc4r |
melanocortin 4 receptor |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 |
|
NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
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G |
Mep1b |
meprin A subunit beta |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:12,366,126...12,392,840
Ensembl chr18:12,365,289...12,392,840
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G |
Mir187 |
microRNA 187 |
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ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:15,731,194...15,731,297
Ensembl chr18:15,731,194...15,731,297
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G |
Mocos |
molybdenum cofactor sulfurase |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:15,931,659...15,977,415
Ensembl chr18:15,931,654...15,977,187
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G |
Neto1 |
neuropilin and tolloid like 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:79,635,633...79,753,913
Ensembl chr18:79,635,633...79,749,030
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G |
Nfatc1 |
nuclear factor of activated T-cells 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:74,046,422...74,156,041
Ensembl chr18:74,046,904...74,156,028
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G |
Nol4 |
nucleolar protein 4 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:13,932,499...14,294,873
Ensembl chr18:13,932,510...14,296,286
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G |
Osbpl1a |
oxysterol binding protein-like 1A |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:3,904,006...4,094,635
Ensembl chr18:3,904,006...4,094,585
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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 chr18:73,497,992...73,565,048
Ensembl chr18:73,498,021...73,565,029
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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 chr13:22,308,532...22,530,978
Ensembl chr13:22,308,548...22,530,977
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G |
Pias2 |
protein inhibitor of activated STAT, 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:70,608,034...70,714,295
Ensembl chr18:70,607,665...70,710,033
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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 chr13:21,659,092...21,812,932
Ensembl chr13:21,662,455...21,806,790
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G |
Pik3c3 |
phosphatidylinositol 3-kinase, catalytic subunit type 3 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:21,845,282...21,934,387
Ensembl chr18:21,845,295...21,929,048
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G |
Psma8 |
proteasome 20S subunit alpha 8 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:5,863,594...5,928,226
Ensembl chr18:5,863,608...5,928,226
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G |
Pstpip2 |
proline-serine-threonine phosphatase-interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:71,310,387...71,396,752
Ensembl chr18:71,311,020...71,395,709
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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 chr18:77,454,435...77,463,785
Ensembl chr18:77,454,435...77,463,785
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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 |
|
NCBI chr18:73,639,264...73,648,914
Ensembl chr18:73,639,260...73,648,915
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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 |
|
NCBI chr13:21,806,972...21,902,807
Ensembl chr13:21,806,972...21,902,807
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G |
Rit2 |
Ras-like without CAAX 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:22,565,403...22,921,648
Ensembl chr18:22,565,404...22,921,648
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G |
Rnf125 |
ring finger protein 125 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:12,254,066...12,275,719
Ensembl chr18:12,253,852...12,275,983
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G |
Rnf138 |
ring finger protein 138 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:12,291,557...12,315,931
Ensembl chr18:12,291,590...12,315,930
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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 chr13:21,324,039...21,403,405
Ensembl chr13:21,323,824...21,403,113
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G |
Rprd1a |
regulation of nuclear pre-mRNA domain containing 1A |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:15,791,418...15,839,338
Ensembl chr18:15,791,418...15,839,338
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G |
Rttn |
rotatin |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333
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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 chr18:74,406,066...74,425,974
Ensembl chr18:74,407,560...74,426,789
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G |
Serpinb10 |
serpin family B member 10 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:23,553,348...23,571,182
Ensembl chr13:23,553,430...23,571,182
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G |
Serpinb11 |
serpin family B member 11 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:23,304,775...23,344,604
Ensembl chr13:23,304,456...23,344,604
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G |
Serpinb12 |
serpin family B member 12 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:23,052,384...23,083,691
Ensembl chr13:23,052,448...23,083,691
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G |
Serpinb13 |
serpin family B member 13 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:23,118,582...23,150,352
Ensembl chr13:23,118,584...23,150,760
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G |
Serpinb2 |
serpin family B member 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:23,537,312...23,551,823
Ensembl chr13:23,541,400...23,550,408
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G |
Serpinb3 |
serpin family B member 3 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:23,274,120...23,280,660
Ensembl chr13:23,274,484...23,313,682
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G |
Serpinb3a |
serpin family B member 3A |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:23,241,303...23,246,328
Ensembl chr13:23,236,972...23,246,985
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G |
Serpinb5 |
serpin family B member 5 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:22,985,557...23,005,756
Ensembl chr13:22,985,557...23,005,756
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G |
Serpinb7 |
serpin family B member 7 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:23,369,830...23,442,205
Ensembl chr13:23,395,671...23,442,205
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G |
Serpinb8 |
serpin family B member 8 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:23,626,936...23,650,277
Ensembl chr13:23,626,945...23,650,835
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G |
Setbp1 |
SET binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
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G |
Siglec15 |
sialic acid binding Ig-like lectin 15 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:71,506,416...71,521,894
Ensembl chr18:71,505,399...71,521,881
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G |
Skor2 |
SKI family transcriptional corepressor 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:70,404,431...70,446,330
Ensembl chr18:70,404,489...70,440,342
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G |
Slc14a1 |
solute carrier family 14 member 1 (Kidd blood group) |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:71,565,453...71,608,807
Ensembl chr18:71,565,454...71,595,146
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G |
Slc14a2 |
solute carrier family 14 member 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:71,612,460...72,039,462
Ensembl chr18:71,612,460...71,792,968
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G |
Slc39a6 |
solute carrier family 39 member 6 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:15,864,874...15,885,417
Ensembl chr18:15,864,875...15,885,417
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|
G |
Slc66a2 |
solute carrier family 66 member 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:73,702,472...73,739,678
Ensembl chr18:73,702,564...73,739,676
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|
G |
Smad2 |
SMAD family member 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
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G |
Smad7 |
SMAD family member 7 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:68,988,429...69,016,774
Ensembl chr18:68,988,429...69,016,765
|
|
G |
Socs6 |
suppressor of cytokine signaling 6 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:82,111,866...82,139,193
Ensembl chr18:82,111,827...82,139,219
|
|
G |
Ss18 |
SS18 subunit of BAF chromatin remodeling complex |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:5,773,042...5,835,696
Ensembl chr18:5,773,042...5,835,333
|
|
G |
St8sia5 |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:70,736,395...70,802,537
Ensembl chr18:70,736,602...70,797,789
|
|
G |
Syt4 |
synaptotagmin 4 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:23,036,973...23,046,380
Ensembl chr18:23,038,378...23,046,332
|
|
G |
Taf4b |
TATA-box binding protein associated factor 4b |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:5,952,737...6,086,408
Ensembl chr18:5,952,769...6,068,307
|
|
G |
Timm21 |
translocase of inner mitochondrial membrane 21 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:78,314,900...78,319,362
Ensembl chr18:78,314,909...78,319,454
|
|
G |
Tmx3 |
thioredoxin-related transmembrane protein 3 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:83,731,777...83,764,719
Ensembl chr18:83,731,868...83,762,263
|
|
G |
Tnfrsf11a |
TNF receptor superfamily member 11A |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
|
|
G |
Tpgs2 |
tubulin polyglutamylase complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:16,432,628...16,489,604
Ensembl chr18:16,422,238...16,489,570
|
|
G |
Trappc8 |
trafficking protein particle complex subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:12,103,874...12,180,422
Ensembl chr18:12,103,877...12,180,107
|
|
G |
Tshz1 |
teashirt zinc finger homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:77,376,399...77,452,815
Ensembl chr18:77,377,394...77,453,509
|
|
G |
Ttc39c |
tetratricopeptide repeat domain 39C |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:3,768,802...3,887,932
Ensembl chr18:3,805,183...3,887,930
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|
G |
Ttr |
transthyretin |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
|
|
G |
Txnl4a |
thioredoxin-like 4A |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:73,659,107...73,674,893
Ensembl chr18:73,659,107...73,674,893
|
|
G |
Vps4b |
vacuolar protein sorting 4 homolog B |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:22,907,105...22,932,200
Ensembl chr13:22,907,109...22,932,229
|
|
G |
Zbtb7c |
zinc finger and BTB domain containing 7C |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:69,441,616...69,765,744
Ensembl chr18:69,441,616...69,765,297
|
|
G |
Zcchc2 |
zinc finger CCHC-type containing 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:22,118,677...22,193,626
Ensembl chr13:22,119,568...22,166,373
|
|
G |
Zfp236 |
zinc finger protein 236 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737
|
|
G |
Zfp24 |
zinc finger protein 24 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:15,295,687...15,307,319
Ensembl chr18:15,298,290...15,306,799
|
|
G |
Zfp397 |
zinc finger protein 397 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:15,241,764...15,253,148
Ensembl chr18:15,242,096...15,300,984
|
|
G |
Zfp407 |
zinc finger protein 407 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:77,571,140...77,970,282
Ensembl chr18:77,571,204...77,974,129
|
|
G |
Zfp516 |
zinc finger protein 516 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:76,286,453...76,386,526
Ensembl chr18:76,302,096...76,385,269
|
|
G |
Zfp521 |
zinc finger protein 521 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:4,775,952...5,068,592
Ensembl chr18:4,787,295...5,068,458
|
|
G |
Zscan30 |
zinc finger and SCAN domain containing 30 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
NCBI chr18:15,245,140...15,266,204
Ensembl chr18:15,244,379...15,264,632
|
|
|
G |
Uba2 |
ubiquitin-like modifier activating enzyme 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 19q13.11 deletion syndrome, distal |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:86,775,239...86,802,685
Ensembl chr 1:86,775,244...86,802,682
|
|
|
G |
2510039O18Rikl |
RIKEN cDNA 2510039O18 gene like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:158,371,925...158,378,195
Ensembl chr 5:158,371,955...158,378,195
|
|
G |
Aadacl3 |
arylacetamide deacetylase-like 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:156,242,182...156,252,215
Ensembl chr 5:156,243,415...156,252,205
|
|
G |
Aadacl4 |
arylacetamide deacetylase-like 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:156,514,021...156,524,567
Ensembl chr 5:156,513,753...156,524,695
|
|
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 5:166,501,150...166,515,477
Ensembl chr 5:166,500,781...166,515,481
|
|
G |
Acot7 |
acyl-CoA thioesterase 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:162,686,562...162,779,309
Ensembl chr 5:162,684,645...162,779,309
|
|
G |
Actrt2 |
actin-related protein T2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
|
|
G |
Agmat |
agmatinase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:154,043,665...154,074,278
Ensembl chr 5:154,060,151...154,074,276
|
|
G |
Agrn |
agrin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
|
|
G |
Agtrap |
angiotensin II receptor-associated protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:158,507,427...158,519,036
Ensembl chr 5:158,508,749...158,519,036
|
|
G |
Ajap1 |
adherens junctions associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:163,907,846...164,021,004
Ensembl chr 5:163,907,847...164,020,317
|
|
G |
Akr7a2 |
aldo-keto reductase family 7, member A2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:151,552,375...151,560,914
Ensembl chr 5:151,552,343...151,560,909
|
|
G |
Akr7a3 |
aldo-keto reductase family 7 member A3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:151,590,968...151,601,394
Ensembl chr 5:151,584,479...151,601,394
|
|
G |
Aldh4a1 |
aldehyde dehydrogenase 4 family, member A1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345
|
|
G |
Angptl7 |
angiopoietin like 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:158,932,096...158,937,281
Ensembl chr 5:158,932,794...158,937,324
|
|
G |
Ankrd65 |
ankyrin repeat domain 65 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953
|
|
G |
Arhgef10l |
Rho guanine nucleotide exchange factor 10 like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:152,792,247...152,935,255
Ensembl chr 5:152,792,252...152,919,538
|
|
G |
Arhgef16 |
Rho guanine nucleotide exchange factor 16 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:164,843,656...164,866,212
Ensembl chr 5:164,844,161...164,866,212
|
|
G |
Arhgef19 |
Rho guanine nucleotide exchange factor 19 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:153,536,038...153,554,203
Ensembl chr 5:153,536,013...153,554,203
|
|
G |
Atad3a |
ATPase family, AAA domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
|
|
G |
Atp13a2 |
ATPase cation transporting 13A2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139
|
|
G |
B3galt6 |
Beta-1,3-galactosyltransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
|
|
G |
C1qtnf12 |
C1q and TNF related 12 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003
|
|
G |
C5h1orf127 |
similar to human chromosome 1 open reading frame 127 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369
|
|
G |
C5h1orf159 |
similar to human chromosome 1 open reading frame 159 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955
|
|
G |
C5h1orf167 |
similar to human chromosome 1 open reading frame 167 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:158,495,514...158,505,671
|
|
G |
C5h1orf174 |
similar to human chromosome 1 open reading frame 174 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:164,515,578...164,520,022
Ensembl chr 5:164,515,559...164,520,021
|
|
G |
Camta1 |
calmodulin binding transcription activator 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:161,510,283...162,356,902
Ensembl chr 5:161,510,283...162,356,723
|
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G |
Capzb |
capping actin protein of muscle Z-line subunit beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:151,435,600...151,535,409
Ensembl chr 5:151,434,871...151,535,409
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G |
Car6 |
carbonic anhydrase 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:160,658,104...160,676,644
Ensembl chr 5:160,658,105...160,676,644
|
|
G |
Casp9 |
caspase 9 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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G |
Casz1 |
castor zinc finger 1 |
|
ISS ISO |
OMIM:607872 ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
MouseDO ClinVar |
|
|
NCBI chr 5:159,243,965...159,393,935
Ensembl chr 5:159,243,995...159,393,400
|
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G |
Ccdc27 |
coiled-coil domain containing 27 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:164,585,285...164,599,391
Ensembl chr 5:164,585,267...164,599,355
|
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G |
Ccnl2 |
cyclin L2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882
|
|
G |
Cdk11b |
cyclin-dependent kinase 11B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
|
|
G |
Cela2a |
chymotrypsin like elastase 2A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632
|
|
G |
Cenps |
centromere protein S |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:159,563,917...159,573,534
|
|
G |
Cep104 |
centrosomal protein 104 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248
|
|
G |
Cfap107 |
cilia and flagella associated protein 107 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:156,212,385...156,231,481
Ensembl chr 5:156,212,385...156,231,481
|
|
G |
Cfap74 |
cilia and flagella associated protein 74 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071
|
|
G |
Chd5 |
chromodomain helicase DNA binding protein 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:162,848,273...162,898,997
Ensembl chr 5:162,848,394...162,896,291
|
|
G |
Clcn6 |
chloride voltage-gated channel 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059
|
|
G |
Clcnka |
chloride voltage-gated channel Ka |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148
|
|
G |
Clcnkb |
chloride voltage-gated channel Kb |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153
|
|
G |
Clstn1 |
calsyntenin 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:160,031,235...160,094,585
Ensembl chr 5:160,031,308...160,094,583
|
|
G |
Cort |
cortistatin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:159,560,591...159,562,032
|
|
G |
Cplane2 |
ciliogenesis and planar polarity effector complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:153,515,507...153,516,455
Ensembl chr 5:153,515,376...153,522,508
|
|
G |
Cptp |
ceramide-1-phosphate transfer protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017
|
|
G |
Crocc |
ciliary rootlet coiled-coil, rootletin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:153,320,962...153,363,734
Ensembl chr 5:153,320,962...153,363,578
|
|
G |
Ctnnbip1 |
catenin, beta-interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:159,961,961...160,010,942
Ensembl chr 5:159,961,928...160,010,939
|
|
G |
Ctrc |
chymotrypsin C |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:154,147,314...154,156,540
Ensembl chr 5:154,147,316...154,156,528
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G |
Ddi2 |
DNA damage inducible 1 homolog 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:153,989,591...154,035,342
Ensembl chr 5:153,995,589...154,035,283
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G |
Dffa |
DNA fragmentation factor subunit alpha |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:159,540,715...159,553,639
Ensembl chr 5:159,540,715...159,553,633
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G |
Dffb |
DNA fragmentation factor subunit beta |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:164,522,446...164,534,733
Ensembl chr 5:164,522,463...164,534,628
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G |
Dhrs3 |
dehydrogenase/reductase 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:156,747,939...156,782,420
Ensembl chr 5:156,747,962...156,782,417
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G |
Disp3 |
dispatched RND transporter family member 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:158,672,015...158,720,806
Ensembl chr 5:158,672,015...158,720,806
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G |
Dnajc11 |
DnaJ heat shock protein family (Hsp40) member C11 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:162,442,042...162,487,966
Ensembl chr 5:162,442,026...162,488,169
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G |
Dnajc16 |
DnaJ heat shock protein family (Hsp40) member C16 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:154,073,372...154,106,246
Ensembl chr 5:154,075,261...154,106,136
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G |
Draxin |
dorsal inhibitory axon guidance protein |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:158,530,149...158,563,457
Ensembl chr 5:158,530,342...158,564,483
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G |
Dvl1 |
dishevelled segment polarity protein 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
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G |
Efhd2 |
EF-hand domain family, member D2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:154,160,945...154,176,980
Ensembl chr 5:154,160,946...154,176,980
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G |
Emc1 |
ER membrane protein complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:151,608,557...151,633,888
Ensembl chr 5:151,608,568...151,633,888
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G |
Eno1 |
enolase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336 Ensembl chr 3:160,719,951...160,731,336
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G |
Epha2 |
Eph receptor A2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:153,605,644...153,634,115
Ensembl chr 5:153,605,644...153,634,117
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G |
Errfi1 |
ERBB receptor feedback inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:161,323,981...161,337,289
Ensembl chr 5:161,323,998...161,337,282
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G |
Espn |
espin |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:162,626,560...162,660,439
Ensembl chr 5:162,626,560...162,660,256
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G |
Exosc10 |
exosome component 10 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:158,995,313...159,018,940
Ensembl chr 5:158,995,313...159,018,940
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G |
Faap20 |
FA core complex associated protein 20 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333
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G |
Fam131c |
family with sequence similarity 131, member C |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:153,674,459...153,690,791
Ensembl chr 5:153,671,772...153,690,800
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G |
Fblim1 |
filamin binding LIM protein 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:153,883,945...153,915,524
Ensembl chr 5:153,883,960...153,913,757
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G |
Fbxo2 |
F-box protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:158,592,926...158,598,355
Ensembl chr 5:158,592,925...158,598,355
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G |
Fbxo42 |
F-box protein 42 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:153,451,162...153,509,564
Ensembl chr 5:153,451,153...153,506,342
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G |
Fbxo44 |
F-box protein 44 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:158,583,363...158,592,510
Ensembl chr 5:158,583,366...158,592,363
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G |
Fbxo6 |
F-box protein 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:158,576,729...158,582,520
Ensembl chr 5:158,576,759...158,582,525
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G |
Fhad1 |
forkhead associated phosphopeptide binding domain 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:154,191,593...154,310,442
Ensembl chr 5:154,191,745...154,310,354
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G |
Fndc10 |
fibronectin type III domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326
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G |
Gabrd |
gamma-aminobutyric acid type A receptor subunit delta |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411
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G |
Gnb1 |
G protein subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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G |
Gpr153 |
G protein-coupled receptor 153 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:162,781,587...162,792,975
Ensembl chr 5:162,781,587...162,792,971
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G |
Gpr157 |
G protein-coupled receptor 157 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:160,550,703...160,566,432
Ensembl chr 5:160,550,713...160,566,432
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G |
H6pd |
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171
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G |
Hes2 |
hes family bHLH transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:162,667,190...162,668,235
Ensembl chr 5:162,667,190...162,668,235
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G |
Hes3 |
hes family bHLH transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:162,793,611...162,799,578
Ensembl chr 5:162,794,367...162,796,261
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G |
Hes5 |
hes family bHLH transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001
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G |
Hspb7 |
heat shock protein family B (small) member 7 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:153,727,782...153,731,268
Ensembl chr 5:153,727,588...153,731,266
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G |
Htr6 |
5-hydroxytryptamine receptor 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:151,295,269...151,312,853
Ensembl chr 5:151,296,662...151,311,912
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G |
Icmt |
isoprenylcysteine carboxyl methyltransferase |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:162,804,368...162,811,129
Ensembl chr 5:162,804,368...162,811,128
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G |
Iffo2 |
intermediate filament family orphan 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:151,830,900...151,876,948
Ensembl chr 5:151,830,701...151,925,345
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G |
Igsf21 |
immunoglobin superfamily, member 21 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:152,287,834...152,512,174
Ensembl chr 5:152,287,835...152,512,174
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G |
Ints11 |
integrator complex subunit 11 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651
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G |
Isg15 |
ISG15 ubiquitin-like modifier |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435
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G |
Kazn |
kazrin, periplakin interacting protein |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:154,392,793...155,381,567
Ensembl chr 5:154,392,793...154,779,074
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G |
Kcnab2 |
potassium voltage-gated channel subfamily A regulatory beta subunit 2 |
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ISS ISO |
OMIM:607872 ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
MouseDO ClinVar |
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NCBI chr 5:162,899,511...162,988,057
Ensembl chr 5:162,901,896...162,988,243
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G |
Kif1b |
kinesin family member 1B |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
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G |
Klhdc7a |
kelch domain containing 7A |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:152,218,604...152,224,707
Ensembl chr 5:152,221,033...152,224,551
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G |
Klhl17 |
kelch-like family member 17 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 5:166,813,482...166,819,949
Ensembl chr 5:166,814,110...166,818,925
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G |
Klhl21 |
kelch-like family member 21 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:162,514,888...162,523,545
Ensembl chr 5:162,514,765...162,523,545
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G |
LOC100909936 |
putative PRAME family member 24-like |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr14:14,420,434...14,423,091
Ensembl chr14:14,420,441...14,423,091 Ensembl chr14:14,420,441...14,423,091
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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 5:155,685,495...155,707,578
Ensembl chr 5:155,685,495...155,707,578
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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 5:164,570,539...164,580,174
Ensembl chr 5:164,570,435...164,580,174
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G |
Lzic |
leucine zipper and CTNNBIP1 domain containing |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:159,928,260...159,941,512
Ensembl chr 5:159,920,439...159,939,685
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G |
Mad2l2 |
mitotic arrest deficient 2 like 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:158,563,545...158,576,698
Ensembl chr 5:158,563,567...158,576,693
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G |
Masp2 |
MBL associated serine protease 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580
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G |
Megf6 |
multiple EGF-like-domains 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:164,738,272...164,839,142
Ensembl chr 5:164,738,352...164,839,139
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G |
Mfap2 |
microfibril associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:153,312,068...153,320,266
Ensembl chr 5:153,314,711...153,320,259
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G |
Mfn2 |
mitofusin 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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G |
Mib2 |
MIB E3 ubiquitin protein ligase 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650
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G |
Micos10 |
mitochondrial contact site and cristae organizing system subunit 10 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:151,341,124...151,367,403
Ensembl chr 5:151,339,176...151,367,485
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G |
Miip |
migration and invasion inhibitory protein |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
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NCBI chr 5:158,292,510...158,299,533
Ensembl chr 5:158,292,511...158,299,694
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G |
Mir200a |
microRNA 200a |
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ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 5:166,648,494...166,648,582
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G |
| |