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: | Malformations of Cortical Development, Group I |
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Accession: | DOID:9005611
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browse the term
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Definition: | Cortical malformations secondary to abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS in NEUROGENESIS. This group includes congenital MICROCEPHALIES; MICROLISSENCEPHALIES, megalencephalies, HEMIMEGALENCEPHALIES and cortical dysplasias with balloon cells. |
Synonyms: | exact_synonym: | Abnormal Proliferation Cortical Malformations; Cortical Malformations, Group I; Malformations Due to Abnormal Neuronal and Glial Proliferation or Apoptosis; Malformations Secondary to Abnormal Neuronal and Glial Proliferation or Apoptosis |
| primary_id: | MESH:D065703 |
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Ankrd28 |
ankyrin repeat domain 28 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr16:6,918,487...7,050,244
Ensembl chr16:6,914,336...7,050,249
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Btd |
biotinidase |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945
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C4h3orf20 |
similar to human chromosome 3 open reading frame 20 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 4:124,422,033...124,470,657
Ensembl chr 4:124,432,193...124,469,254
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Capn7 |
calpain 7 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr16:6,545,630...6,581,908
Ensembl chr16:6,545,731...6,581,905
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Ccdc174 |
coiled-coil domain containing 174 |
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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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Chchd4 |
coiled-coil-helix-coiled-coil-helix domain containing 4 |
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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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Colq |
collagen like tail subunit of asymmetric acetylcholinesterase |
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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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Dazl |
deleted in azoospermia-like |
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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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Dph3 |
diphthamide biosynthesis 3 |
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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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Eaf1 |
ELL associated factor 1 |
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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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Efhb |
EF hand domain family, member B |
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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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Fbln2 |
fibulin 2 |
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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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Fgd5 |
FYVE, RhoGEF and PH domain containing 5 |
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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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Galnt15 |
polypeptide N-acetylgalactosaminyltransferase 15 |
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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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Grip2 |
glutamate receptor interacting protein 2 |
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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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Hacl1 |
2-hydroxyacyl-CoA lyase 1 |
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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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Hdac11 |
histone deacetylase 11 |
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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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Kat2b |
lysine acetyltransferase 2B |
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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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Kcnh8 |
potassium voltage-gated channel subfamily H member 8 |
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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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Lsm3 |
LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated |
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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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Mettl6 |
methyltransferase 6, tRNA N3-cytidine |
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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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Mrps25 |
mitochondrial ribosomal protein S25 |
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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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Nr2c2 |
nuclear receptor subfamily 2, group C, member 2 |
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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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Nup210 |
nucleoporin 210 |
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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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Oxnad1 |
oxidoreductase NAD-binding domain containing 1 |
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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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Plcl2 |
phospholipase C-like 2 |
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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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Pp2d1 |
protein phosphatase 2C-like domain containing 1 |
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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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Rab5a |
RAB5A, member RAS oncogene family |
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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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Rbsn |
rabenosyn, RAB effector |
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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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Rftn1 |
raftlin lipid raft linker 1 |
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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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Satb1 |
SATB homeobox 1 |
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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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Setd5 |
SET domain containing 5 |
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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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Sh3bp5 |
SH3-domain binding protein 5 |
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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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Slc6a6 |
solute carrier family 6 member 6 |
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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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Tbc1d5 |
TBC1 domain family, member 5 |
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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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Thumpd3 |
THUMP domain containing 3 |
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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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Tmem43 |
transmembrane protein 43 |
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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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Wnt7a |
Wnt family member 7A |
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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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Xpc |
XPC complex subunit, DNA damage recognition and repair factor |
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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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Dcps |
decapping enzyme, scavenger |
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ISO |
ClinVar Annotator: match by term: Al-Raqad syndrome |
OMIM ClinVar |
PMID:25701870 PMID:25712129 PMID:25741868 PMID:28492532 PMID:30289615 PMID:32623794 PMID:36029130 More...
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NCBI chr 8:33,468,669...33,524,407
Ensembl chr 8:33,415,671...33,524,389
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Slc25a19 |
solute carrier family 25 member 19 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amish lethal microcephaly | ClinVar Annotator: match by term: Microcephaly, Amish type | ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE) |
OMIM CTD ClinVar |
PMID:12185364 PMID:18414213 PMID:19798730 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr10:100,853,554...100,867,517
Ensembl chr10:100,847,168...100,867,447
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Kat6a |
lysine acetyltransferase 6A |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A syndrome | ClinVar Annotator: match by term: KAT6A-related condition | ClinVar Annotator: match by term: KAT6A-related neurodevelopmental disorder with multiple anomalies |
OMIM ClinVar |
PMID:17374998 PMID:23431171 PMID:25728775 PMID:25728777 PMID:25741868 PMID:26938784 PMID:27133397 PMID:28492532 PMID:30245513 PMID:31292255 PMID:32041641 PMID:33318932 PMID:34748993 PMID:35892268 PMID:38177409 More...
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NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
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Asns |
asparagine synthetase (glutamine-hydrolyzing) |
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ISO |
ClinVar Annotator: match by term: ASNS DEFICIENCY | ClinVar Annotator: match by term: ASNS-related condition | ClinVar Annotator: match by term: Asparagine synthetase deficiency |
OMIM ClinVar |
PMID:16199547 PMID:24139043 PMID:25227173 PMID:25663424 PMID:25741868 PMID:25758715 PMID:26395554 PMID:27422383 PMID:27469131 PMID:27522229 PMID:27711071 PMID:28492532 PMID:28776279 PMID:29279279 PMID:29302074 PMID:29375865 PMID:29405484 PMID:30057589 PMID:30214071 PMID:30978478 PMID:31130284 PMID:32255274 PMID:32741967 PMID:32906196 PMID:33258288 PMID:33287870 PMID:34490615 PMID:34582790 PMID:34906502 PMID:35469797 PMID:36344539 PMID:36374791 More...
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NCBI chr 4:35,784,995...35,803,474
Ensembl chr 4:35,785,237...35,803,423
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Trio |
trio Rho guanine nucleotide exchange factor |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY | ClinVar Annotator: match by term: TRIO-related condition |
OMIM ClinVar |
PMID:22495306 PMID:25363768 PMID:25741868 PMID:26721934 PMID:27418539 PMID:28191890 PMID:28492532 PMID:28796471 PMID:28928363 PMID:28973398 PMID:32109419 PMID:36987741 More...
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NCBI chr 2:78,505,069...78,801,384
Ensembl chr 2:78,505,070...78,803,135
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Egfr |
epidermal growth factor receptor |
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ISO |
ClinVar Annotator: match by term: Cowden syndrome 1 |
ClinVar |
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NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Klln |
killin, p53-regulated DNA replication inhibitor |
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ISO |
ClinVar Annotator: match by term: Cowden syndrome 1 |
ClinVar |
PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21194675 PMID:21417916 PMID:21532617 PMID:24033266 PMID:25669429 PMID:25741868 PMID:26467025 PMID:27535533 PMID:27878467 PMID:27884173 PMID:28492532 More...
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Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Cowden syndrome 1 |
ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 PMID:16906227 PMID:16930767 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21430269 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22658544 PMID:22729222 PMID:23100325 PMID:23946963 PMID:25157968 PMID:25599672 PMID:25681199 PMID:25741868 PMID:26619011 PMID:26627007 PMID:27631024 PMID:28492532 PMID:29446767 PMID:34496175 PMID:34568242 PMID:34606700 PMID:37667289 More...
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pten |
phosphatase and tensin homolog |
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ISS ISO |
OMIM:158350 ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1 |
MouseDO OMIM ClinVar |
PMID:1097835 PMID:1336932 PMID:1945792 PMID:2333580 PMID:2338203 PMID:7728760 PMID:8071972 PMID:8673088 PMID:8980400 PMID:9140396 PMID:9241266 PMID:9256433 PMID:9259288 PMID:9265751 PMID:9288766 PMID:9326929 PMID:9356475 PMID:9399897 PMID:9425889 PMID:9467011 PMID:9536098 PMID:9598803 PMID:9600246 PMID:9619835 PMID:9685848 PMID:9735393 PMID:9740666 PMID:9788441 PMID:9794233 PMID:9811831 PMID:9832031 PMID:9832032 PMID:9856571 PMID:9915974 PMID:10051603 PMID:10076877 PMID:10232405 PMID:10234502 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10554022 PMID:10555148 PMID:10606430 PMID:10698513 PMID:10698713 PMID:10749983 PMID:10772390 PMID:10772829 PMID:10777358 PMID:10848731 PMID:10866302 PMID:10866658 PMID:10920277 PMID:10923032 PMID:10978354 PMID:11035045 PMID:11051241 PMID:11052475 PMID:11071384 PMID:11156408 PMID:11234884 PMID:11238682 PMID:11274365 PMID:11332402 PMID:11448956 PMID:11476841 PMID:11504908 PMID:11668501 PMID:11685670 PMID:11748304 PMID:11875759 PMID:11886535 PMID:11918710 PMID:11948419 PMID:12015762 PMID:12075083 PMID:12085208 PMID:12208743 PMID:12297295 PMID:12372056 PMID:12414663 PMID:12471211 PMID:12614768 PMID:12808147 PMID:12833416 PMID:12844284 PMID:12938083 PMID:14518070 PMID:14566704 PMID:14623110 PMID:14675182 PMID:15016963 PMID:15120218 PMID:15211648 PMID:15254419 PMID:15355975 PMID:15372512 PMID:15492994 PMID:15531530 PMID:15647370 PMID:15659546 PMID:15805158 PMID:16007494 PMID:16014636 PMID:16021145 PMID:16199547 PMID:16506206 PMID:16619501 PMID:16704655 PMID:16752378 PMID:16773562 PMID:16894538 PMID:16952599 PMID:17043057 PMID:17167516 PMID:17213812 PMID:17286265 PMID:17324556 PMID:17392703 PMID:17427195 PMID:17526800 PMID:17526801 PMID:17576681 PMID:17847000 PMID:17873119 PMID:17873882 PMID:17898811 PMID:17928923 PMID:17941496 PMID:17942903 PMID:17954274 PMID:18025323 PMID:18080326 PMID:18558293 PMID:18594467 PMID:18626099 PMID:18725974 PMID:18757403 PMID:18767981 PMID:18781614 PMID:18986487 PMID:19190598 PMID:19265751 PMID:19340001 PMID:19351834 PMID:19366826 PMID:19457929 PMID:19458356 PMID:19622968 PMID:19829307 PMID:19903786 PMID:19968660 PMID:20018398 PMID:20049735 PMID:20085938 PMID:20194734 PMID:20223021 PMID:20300775 PMID:20301661 PMID:20453058 PMID:20533527 PMID:20600018 PMID:20619739 PMID:20685300 PMID:20712882 PMID:20718038 PMID:20785012 PMID:20881644 PMID:20926450 PMID:20962022 PMID:21103832 PMID:21190448 PMID:21194675 PMID:21291452 PMID:21333374 PMID:21343951 PMID:21417916 PMID:21475810 PMID:21532617 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:21869887 PMID:21956414 PMID:22005521 PMID:22076652 PMID:22162582 PMID:22162589 PMID:22261759 PMID:22266152 PMID:22281088 PMID:22320991 PMID:22327138 PMID:22371648 PMID:22381246 PMID:22413754 PMID:22469695 PMID:22479427 PMID:22491738 PMID:22503188 PMID:22505997 PMID:22520842 PMID:22536362 PMID:22558107 PMID:22595938 PMID:22628360 PMID:22703879 PMID:22911484 PMID:22962422 PMID:22970944 PMID:23066114 PMID:23117110 PMID:23160955 PMID:23161105 PMID:23315997 PMID:23335809 PMID:23349303 PMID:23361946 PMID:23382303 PMID:23399955 PMID:23423780 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23555315 PMID:23613428 PMID:23633456 PMID:23695273 PMID:23744781 PMID:23757202 PMID:23764071 PMID:23825907 PMID:23886400 PMID:23930209 PMID:23934111 PMID:23934601 PMID:24022303 PMID:24033266 PMID:24052722 PMID:24055113 PMID:24099866 PMID:24123798 PMID:24136893 PMID:24292679 PMID:24345843 PMID:24375884 PMID:24379037 PMID:24404930 PMID:24468202 PMID:24498881 PMID:24721394 PMID:24728327 PMID:24763289 PMID:24766807 PMID:24768297 PMID:24778394 PMID:24901346 PMID:24905788 PMID:25132236 PMID:25148578 PMID:25157968 PMID:25186627 PMID:25288137 PMID:25326635 PMID:25336918 PMID:25418537 PMID:25437057 PMID:25448482 PMID:25525159 PMID:25527629 PMID:25549896 PMID:25647146 PMID:25669429 PMID:25722288 PMID:25741868 PMID:25756585 PMID:25875300 PMID:25910213 PMID:25980754 PMID:26076150 PMID:26082588 PMID:26099045 PMID:26124082 PMID:26157835 PMID:26229595 PMID:26246517 PMID:26302789 PMID:26376867 PMID:26418532 PMID:26467025 PMID:26468640 PMID:26492180 PMID:26504226 PMID:26517354 PMID:26534844 PMID:26572169 PMID:26579216 PMID:26580448 PMID:26612463 PMID:26619011 PMID:26633542 PMID:26637798 PMID:26665196 PMID:26681312 PMID:26773036 PMID:26787237 PMID:26795104 PMID:26798346 PMID:26800850 PMID:26845104 PMID:26898890 PMID:26919320 PMID:27157322 PMID:27324988 PMID:27405757 PMID:27426521 PMID:27428751 PMID:27477328 PMID:27481051 PMID:27489861 PMID:27514801 PMID:27531073 PMID:27535533 PMID:27829222 PMID:27878467 PMID:27884173 PMID:27978560 PMID:28008555 PMID:28013114 PMID:28086757 PMID:28135145 PMID:28235761 PMID:28251007 PMID:28263967 PMID:28286253 PMID:28418444 PMID:28454995 PMID:28475857 PMID:28492532 PMID:28497778 PMID:28523199 PMID:28526761 PMID:28600779 PMID:28655553 PMID:28677221 PMID:28724667 PMID:28741261 PMID:28774669 PMID:28873162 PMID:29043291 PMID:29273943 PMID:29282348 PMID:29296277 PMID:29359449 PMID:29371908 PMID:29373119 PMID:29444762 PMID:29496690 PMID:29510612 PMID:29594054 PMID:29608813 PMID:29663862 PMID:29706350 PMID:29706633 PMID:29706646 PMID:29720545 PMID:29752200 PMID:29758562 PMID:29785012 PMID:29806868 PMID:29874181 PMID:29927861 PMID:29931205 PMID:29970488 PMID:30181857 PMID:30287823 PMID:30311369 PMID:30311380 PMID:30327747 PMID:30443844 PMID:30482242 PMID:30528446 PMID:30544257 PMID:30614812 PMID:30659124 PMID:30720243 PMID:30763456 PMID:30809968 PMID:30978501 PMID:31006514 PMID:31079897 PMID:31144778 PMID:31149344 PMID:31159747 PMID:31199785 PMID:31209962 PMID:31220904 PMID:31336731 PMID:31567591 PMID:31594918 PMID:31636093 PMID:31664961 PMID:31970404 PMID:32003824 PMID:32123317 PMID:32150788 PMID:32162695 PMID:32185379 PMID:32190315 PMID:32196895 PMID:32238909 PMID:32295079 PMID:32350270 PMID:32366478 PMID:32378608 PMID:32442409 PMID:32461083 PMID:32461654 PMID:32664367 PMID:32670512 PMID:32832836 PMID:32885271 PMID:32959437 PMID:33077954 PMID:33083010 PMID:33088792 PMID:33372952 PMID:33471991 PMID:33482532 PMID:33600059 PMID:33723755 PMID:33876391 PMID:33887726 PMID:34184188 PMID:34268892 PMID:34308366 PMID:34326862 PMID:34386506 PMID:34518631 PMID:34625746 PMID:34906515 PMID:35227301 PMID:35241692 PMID:35264596 PMID:35931053 PMID:35982159 PMID:36270489 PMID:36988593 PMID:37035742 PMID:37090027 PMID:37673932 PMID:37819013 PMID:38311546 PMID:38546160 More...
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NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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G |
Sdhb |
succinate dehydrogenase complex iron sulfur subunit B |
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ISO |
ClinVar Annotator: match by term: Cowden syndrome 1 |
ClinVar |
PMID:19802898 PMID:20923864 PMID:21979946 PMID:23072324 PMID:23512077 PMID:25694510 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30152102 More...
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NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
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G |
Copb1 |
COPI coat complex subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Baralle-Macken syndrome |
OMIM ClinVar |
PMID:25741868 PMID:33632302 |
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NCBI chr 1:168,404,334...168,438,589
Ensembl chr 1:168,404,335...168,438,416
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G |
Med25 |
mediator complex subunit 25 |
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ISO |
ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome |
OMIM ClinVar |
PMID:25488817 PMID:25527630 PMID:25741868 PMID:25792360 PMID:28170084 PMID:28492532 PMID:30039206 PMID:32324310 PMID:32371413 PMID:32376792 PMID:32816121 PMID:37091313 More...
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NCBI chr 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877
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G |
Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
ClinVar |
PMID:15241795 PMID:16571647 PMID:16905551 PMID:17701892 PMID:18435798 PMID:19293843 PMID:19349279 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Thoc6 |
THO complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: THOC6-related condition | ClinVar Annotator: match by term: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
OMIM ClinVar |
PMID:16199547 PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 PMID:27102954 PMID:27295358 PMID:28492532 PMID:30238602 PMID:30476144 PMID:31421288 PMID:32790266 PMID:35426486 PMID:36900003 More...
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NCBI chr10:12,700,051...12,705,411
Ensembl chr10:12,700,051...12,706,925
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G |
Aagab |
alpha- and gamma-adaptin binding protein |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:64,083,343...64,121,903
Ensembl chr 8:64,083,380...64,121,900
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G |
Abhd17c |
abhydrolase domain containing 17C, depalmitoylase |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:138,084,632...138,125,595
Ensembl chr 1:138,084,634...138,125,595
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G |
Abhd2 |
abhydrolase domain containing 2, acylglycerol lipase |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
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NCBI chr 1:133,217,403...133,298,564
Ensembl chr 1:133,217,375...133,299,061
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G |
Acan |
aggrecan |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
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NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627
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G |
Acsbg1 |
acyl-CoA synthetase bubblegum family member 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:54,991,294...55,047,276
Ensembl chr 8:54,991,296...55,047,391
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G |
Actc1 |
actin, alpha, cardiac muscle 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523
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G |
Adal |
adenosine deaminase-like |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:108,101,857...108,119,557
Ensembl chr 3:108,101,857...108,118,516 Ensembl chr 3:108,101,857...108,118,516
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G |
Adam10 |
ADAM metallopeptidase domain 10 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889
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G |
Adamts7 |
ADAM metallopeptidase with thrombospondin type 1 motif, 7 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:90,704,727...90,744,333
Ensembl chr 8:90,704,727...90,744,328
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G |
Adamtsl3 |
ADAMTS-like 3 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:136,288,793...136,596,986
Ensembl chr 1:136,288,793...136,596,986
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G |
Adpgk |
ADP-dependent glucokinase |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:59,699,400...59,727,352
Ensembl chr 8:59,699,388...59,727,351
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G |
Aen |
apoptosis enhancing nuclease |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:132,815,094...132,824,522
Ensembl chr 1:132,815,142...132,824,523
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G |
Afg2b |
AFG2 AAA ATPase homolog B |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,694,739...109,708,356
Ensembl chr 3:109,694,757...109,707,757
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G |
Agbl1 |
AGBL carboxypeptidase 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:130,043,914...130,950,739
Ensembl chr 1:130,043,970...130,951,638
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G |
Akap13 |
A-kinase anchoring protein 13 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:129,313,183...129,619,647
Ensembl chr 1:129,314,402...129,619,646
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G |
Aldh1a2 |
aldehyde dehydrogenase 1 family, member A2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107
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G |
Alpk3 |
alpha-kinase 3 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:135,014,455...135,062,294
Ensembl chr 1:135,014,499...135,062,302
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G |
Ankdd1a |
ankyrin repeat and death domain containing 1A |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:66,017,571...66,043,738
Ensembl chr 8:66,017,773...66,042,651
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G |
Ankrd34c |
ankyrin repeat domain 34C |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:90,271,264...90,281,759
Ensembl chr 8:90,269,315...90,281,775
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G |
Ankrd63 |
ankyrin repeat domain 63 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:105,675,148...105,679,970
Ensembl chr 3:105,663,638...105,682,404
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G |
Anp32a |
acidic nuclear phosphoprotein 32 family member A |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:62,829,099...62,865,443
Ensembl chr 8:62,827,456...62,865,443
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G |
Anpep |
alanyl aminopeptidase, membrane |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
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NCBI chr 1:133,767,332...133,810,137
Ensembl chr 1:133,767,332...133,785,789
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G |
Anxa2 |
annexin A2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
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G |
Ap3b2 |
adaptor related protein complex 3 subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:135,412,580...135,445,191
Ensembl chr 1:135,412,580...135,445,191
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G |
Ap3s2 |
adaptor related protein complex 3 subunit sigma 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
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NCBI chr 1:133,818,825...133,859,269
Ensembl chr 1:133,818,825...133,859,322
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G |
Ap4e1 |
adaptor related protein complex 4 subunit epsilon 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752
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G |
Aph1b |
aph-1 homolog B, gamma secretase subunit |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:67,429,198...67,454,735
Ensembl chr 8:67,429,198...67,450,243
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G |
Aqp9 |
aquaporin 9 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:71,797,231...71,837,485
Ensembl chr 8:71,797,234...71,837,395
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G |
Aqr |
aquarius intron-binding spliceosomal factor |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:100,874,987...100,945,026
Ensembl chr 3:100,874,987...100,945,044
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G |
Arid3b |
AT-rich interaction domain 3B |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:58,193,268...58,240,901
Ensembl chr 8:58,193,418...58,238,318
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G |
Arih1 |
ariadne RBR E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:59,777,378...59,879,762
Ensembl chr 8:59,777,379...59,880,245
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G |
Arnt2 |
aryl hydrocarbon receptor nuclear translocator 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:138,236,235...138,392,868
Ensembl chr 1:138,189,940...138,393,153
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G |
Arpin |
actin-related protein 2/3 complex inhibitor |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
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NCBI chr 1:133,864,288...133,873,124
Ensembl chr 1:133,864,265...133,873,124
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G |
Arpp19 |
cAMP-regulated phosphoprotein 19 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:75,779,640...75,802,474
Ensembl chr 8:75,779,523...75,802,452 Ensembl chr 8:75,779,523...75,802,452
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G |
Atosa |
atos homolog A |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:75,694,828...75,772,565
Ensembl chr 8:75,695,022...75,772,549
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G |
Atp8b4 |
ATPase phospholipid transporting 8B4 (putative) |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:113,554,979...113,757,635
Ensembl chr 3:113,556,192...113,757,225
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G |
Aven |
apoptosis and caspase activation inhibitor |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:99,299,009...99,431,635
Ensembl chr 3:99,298,930...99,431,634
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G |
B2m |
beta-2 microglobulin |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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G |
Bahd1 |
bromo adjacent homology domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:105,891,207...105,914,414
Ensembl chr 3:105,892,478...105,914,410
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G |
Bbs4 |
Bardet-Biedl syndrome 4 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607
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G |
Bcl2a1 |
BCL2-related protein A1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:89,716,914...89,724,998
Ensembl chr 8:89,716,914...89,724,998
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G |
Bcl2l10 |
Bcl2-like 10 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:76,107,326...76,113,373
Ensembl chr 8:76,107,326...76,113,367
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G |
Blm |
BLM RecQ like helicase |
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ISO ISS |
ClinVar Annotator: match by term: Bloom syndrome | ClinVar Annotator: match by term: Bloom-Torre-Machacek syndrome OMIM:210900 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:2678854 PMID:7585968 PMID:7799980 PMID:9285778 PMID:9388480 PMID:9536098 PMID:9758720 PMID:9837821 PMID:9840919 PMID:10069810 PMID:10090915 PMID:10569803 PMID:10734115 PMID:10812332 PMID:10965492 PMID:11281456 PMID:11399766 PMID:12242432 PMID:12444098 PMID:15579905 PMID:15609317 PMID:15930159 PMID:15990871 PMID:16199547 PMID:16876111 PMID:17407155 PMID:17576681 PMID:17878217 PMID:18414213 PMID:18471088 PMID:19763152 PMID:19917125 PMID:20301572 PMID:20307669 PMID:20639533 PMID:20980836 PMID:21113733 PMID:21440839 PMID:21815139 PMID:22406018 PMID:22582397 PMID:22657828 PMID:22829774 PMID:22885301 PMID:23028338 PMID:23129629 PMID:23161009 PMID:23225144 PMID:23276657 PMID:23292937 PMID:23552953 PMID:23928670 PMID:23960188 PMID:24033266 PMID:24096176 PMID:24118499 PMID:24448499 PMID:24728327 PMID:24733792 PMID:24816114 PMID:24932421 PMID:25111073 PMID:25129257 PMID:25182961 PMID:25186949 PMID:25231023 PMID:25399228 PMID:25525159 PMID:25619955 PMID:25637381 PMID:25640679 PMID:25653542 PMID:25741868 PMID:25741877 PMID:25794620 PMID:25850943 PMID:25901030 PMID:25940061 PMID:26028025 PMID:26247052 PMID:26296701 PMID:26340805 PMID:26358404 PMID:26467025 PMID:26503572 PMID:26556299 PMID:26580448 PMID:26585945 PMID:26681682 PMID:26689913 PMID:26786923 PMID:26788541 PMID:26822949 PMID:26979391 PMID:27124789 PMID:27153395 PMID:27175728 PMID:27270107 PMID:27356891 PMID:27516001 PMID:27657136 PMID:27876123 PMID:27959697 PMID:28125078 PMID:28195393 PMID:28232778 PMID:28464862 PMID:28492532 PMID:28611551 PMID:28724667 PMID:28805986 PMID:28873162 PMID:28877996 PMID:28944238 PMID:29098565 PMID:29212164 PMID:29338689 PMID:29439820 PMID:29453417 PMID:29478780 PMID:29484706 PMID:29625052 PMID:29641532 PMID:29659569 PMID:29753700 PMID:29785153 PMID:29970176 PMID:30044990 PMID:30082870 PMID:30138938 PMID:30152102 PMID:30214071 PMID:30214240 PMID:30256826 PMID:30262796 PMID:30306255 PMID:30441849 PMID:30502717 PMID:30541756 PMID:30613976 PMID:30666157 PMID:30840646 PMID:30871259 PMID:30995915 PMID:31118792 PMID:31159747 PMID:31212687 PMID:31218271 PMID:31253795 PMID:31263571 PMID:31360874 PMID:31562900 PMID:31589614 PMID:31681265 PMID:31780696 PMID:31816118 PMID:31844177 PMID:31937788 PMID:31942411 PMID:31956452 PMID:31970404 PMID:32029870 PMID:32073752 PMID:32107087 PMID:32283892 PMID:32449991 PMID:32566746 PMID:32595206 PMID:32655338 PMID:32704157 PMID:32860008 PMID:32868804 PMID:32923906 PMID:33073370 PMID:33077847 PMID:33193653 PMID:33219493 PMID:33318203 PMID:33332384 PMID:33436027 PMID:33528079 PMID:33558524 PMID:33563768 PMID:33606809 PMID:33647232 PMID:33832920 PMID:34117267 PMID:34177791 PMID:34288589 PMID:34308104 PMID:34497584 PMID:34538859 PMID:34767783 PMID:35218564 PMID:35264596 PMID:35273153 PMID:35314707 PMID:35892882 PMID:35969835 PMID:36232793 PMID:36315097 PMID:36732629 PMID:37316882 PMID:10779560 PMID:9388480 More...
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RGD:1580056, RGD:1599420 |
NCBI chr 1:134,409,832...134,496,073
Ensembl chr 1:134,409,857...134,484,312
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Bloc1s6 |
biogenesis of lysosomal organelles complex 1 subunit 6 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
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Bmf |
Bcl2 modifying factor |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:105,499,534...105,520,159
Ensembl chr 3:105,499,538...105,520,145
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Bnc1 |
basonuclin zinc finger protein 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:135,917,676...135,943,333
Ensembl chr 1:135,917,687...135,943,333
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Bnip2 |
BCL2 interacting protein 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:70,640,436...70,661,782
Ensembl chr 8:70,640,445...70,675,590
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Btbd1 |
BTB domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:135,734,549...135,773,067
Ensembl chr 1:135,734,589...135,771,981
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Bub1b |
BUB1 mitotic checkpoint serine/threonine kinase B |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547
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C1h15orf40 |
similar to human chromosome 15 open reading frame 40 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:135,725,869...135,732,028
Ensembl chr 1:135,717,545...135,732,039
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C2cd4a |
C2 calcium-dependent domain containing 4A |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:68,467,017...68,469,781
Ensembl chr 8:68,466,664...68,470,031
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C2cd4b |
C2 calcium-dependent domain containing 4B |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:68,372,793...68,396,477
Ensembl chr 8:68,384,847...68,396,328
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C3h15orf48 |
similar to human chromosome 15 open reading frame 48 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,719,952...109,723,505
Ensembl chr 3:109,719,897...109,724,006 Ensembl chr 3:109,719,897...109,724,006
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C3h15orf62 |
similar to human chromosome 15 open reading frame 62 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:106,164,179...106,167,404
Ensembl chr 3:106,157,382...106,167,831
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C8h15orf39 |
similar to human chromosome 15 open reading frame 39 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:57,646,324...57,655,896
Ensembl chr 8:57,645,756...57,655,941
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C8h15orf61 |
similar to human chromosome 15 open reading frame 61 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:63,868,125...63,872,863
Ensembl chr 8:63,868,125...63,872,751
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Calml4 |
calmodulin-like 4 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:63,323,426...63,335,234
Ensembl chr 8:63,323,351...63,335,234
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Capn3 |
calpain 3 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858
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Car12 |
carbonic anhydrase 12 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:67,274,739...67,330,428
Ensembl chr 8:67,274,359...67,330,440
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Catsper2 |
cation channel, sperm associated 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:108,368,654...108,389,380
Ensembl chr 3:108,368,668...108,388,050
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Ccdc32 |
coiled-coil domain containing 32 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:105,998,429...106,010,985
Ensembl chr 3:105,998,430...106,010,975
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Ccdc33 |
coiled-coil domain containing 33 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:58,434,798...58,534,338
Ensembl chr 8:58,435,661...58,534,370
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Ccdc9b |
coiled-coil domain containing 9B |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:105,736,120...105,745,039
Ensembl chr 3:105,739,174...105,744,697
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Ccnb2 |
cyclin B2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:71,087,594...71,100,794
Ensembl chr 8:71,087,595...71,100,874
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Ccndbp1 |
cyclin D1 binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:107,962,402...107,974,234
Ensembl chr 3:107,962,261...107,974,233
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Ccpg1 |
cell cycle progression 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:73,719,960...73,752,437
Ensembl chr 8:73,719,955...73,752,430
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Cd276 |
Cd276 molecule |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:58,937,751...58,968,082
Ensembl chr 8:58,937,751...58,968,380
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Cdan1 |
codanin 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:107,675,147...107,689,811
Ensembl chr 3:107,673,645...107,689,773
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Cdin1 |
CDAN1 interacting nuclease 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:102,441,553...102,646,935
Ensembl chr 3:102,441,704...102,646,682
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Celf6 |
CUGBP, Elav-like family member 6 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:59,975,095...60,006,060
Ensembl chr 8:59,975,088...60,005,041
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Cemip |
cell migration inducing hyaluronidase 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:137,906,921...138,062,430
Ensembl chr 1:137,908,920...138,062,415
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Cep152 |
centrosomal protein 152 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:112,803,185...112,878,298
Ensembl chr 3:112,810,425...112,878,458 Ensembl chr 3:112,810,425...112,878,458
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Cfap161 |
cilia and flagella associated protein 161 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:137,743,783...137,768,685
Ensembl chr 1:137,743,784...137,768,730
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Cgnl1 |
cingulin-like 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:72,273,401...72,424,842
Ensembl chr 8:72,275,645...72,422,917
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Chac1 |
ChaC glutathione-specific gamma-glutamylcyclotransferase 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:106,342,302...106,345,526
Ensembl chr 3:106,342,302...106,345,526
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Chp1 |
calcineurin-like EF-hand protein 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:106,536,009...106,571,255
Ensembl chr 3:106,536,004...106,571,251
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Chrm5 |
cholinergic receptor, muscarinic 5 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:99,284,846...99,337,252
Ensembl chr 3:99,284,846...99,337,252
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Chrna3 |
cholinergic receptor nicotinic alpha 3 subunit |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:55,401,668...55,415,165
Ensembl chr 8:55,401,702...55,415,165
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Chrna5 |
cholinergic receptor nicotinic alpha 5 subunit |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146
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Chrnb4 |
cholinergic receptor nicotinic beta 4 subunit |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:55,417,583...55,437,027
Ensembl chr 8:55,418,313...55,437,027
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Chst14 |
carbohydrate sulfotransferase 14 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:105,916,481...105,918,538
Ensembl chr 3:105,916,466...105,918,548
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Ciao2a |
cytosolic iron-sulfur assembly component 2A |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:66,670,533...66,682,455
Ensembl chr 8:66,670,483...66,682,455
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Cib1 |
calcium and integrin binding 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
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NCBI chr 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423
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Cib2 |
calcium and integrin binding family member 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:54,930,265...54,947,157
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Cilp |
cartilage intermediate layer protein |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:65,777,281...65,792,251
Ensembl chr 8:65,777,281...65,792,251
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Cimap1c |
ciliary microtubule associated protein 1C |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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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Ckmt1 |
creatine kinase, mitochondrial 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:108,329,859...108,335,760
Ensembl chr 3:108,330,705...108,335,758
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Clk3 |
CDC-like kinase 3 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:58,152,155...58,167,196
Ensembl chr 8:58,152,155...58,168,181
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Cln6 |
CLN6, transmembrane ER protein |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
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Clpx |
caseinolytic mitochondrial matrix peptidase chaperone subunit X |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:65,805,460...65,845,643
Ensembl chr 8:65,805,511...65,845,082
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Commd4 |
COMM domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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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Cops2 |
COP9 signalosome subunit 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:113,084,174...113,110,090
Ensembl chr 3:113,084,176...113,109,947
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Coro2b |
coronin 2B |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:62,906,861...63,017,295
Ensembl chr 8:62,906,867...63,017,302
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Cox5a |
cytochrome c oxidase subunit 5A |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:57,922,374...57,933,781
Ensembl chr 8:57,922,290...57,933,781
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Cpeb1 |
cytoplasmic polyadenylation element binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760
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Cplx3 |
complexin 3 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:58,003,535...58,010,297
Ensembl chr 8:58,003,535...58,010,297
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Crabp1 |
cellular retinoic acid binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:55,138,363...55,159,360
Ensembl chr 8:55,151,285...55,159,360
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Crtc3 |
CREB regulated transcription coactivator 3 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
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NCBI chr 1:134,552,830...134,655,929
Ensembl chr 1:134,554,696...134,655,500
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Csk |
C-terminal Src kinase |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:58,029,748...58,048,742
Ensembl chr 8:58,029,749...58,048,292
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Csnk1g1 |
casein kinase 1, gamma 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:66,439,760...66,577,247
Ensembl chr 8:66,439,864...66,572,826
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Cspg4 |
chondroitin sulfate proteoglycan 4 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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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Ctdspl2 |
CTD small phosphatase like 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:108,915,263...108,970,620
Ensembl chr 3:108,915,280...108,967,227
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Ctsh |
cathepsin H |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824
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Ctxn2 |
cortexin 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:112,390,972...112,401,321
Ensembl chr 3:112,391,335...112,401,319
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Cyp11a1 |
cytochrome P450, family 11, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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Cyp19a1 |
cytochrome P450, family 19, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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|
G |
Cyp1a2 |
cytochrome P450, family 1, subfamily a, polypeptide 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
|
|
G |
Dapk2 |
death-associated protein kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:66,706,536...66,825,567
Ensembl chr 8:66,706,609...66,825,567
|
|
G |
Dennd4a |
DENN domain containing 4A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:65,322,920...65,436,331
Ensembl chr 8:65,322,941...65,436,330
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|
G |
Det1 |
DET1 partner of COP1 E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:132,749,736...132,765,963
Ensembl chr 1:132,749,756...132,765,923
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|
G |
Dis3l |
DIS3-like exosome 3'-5' exoribonuclease |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:64,803,925...64,840,306
Ensembl chr 8:64,803,927...64,840,165
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G |
Disp2 |
dispatched RND transporter family member 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:105,762,303...105,777,826
Ensembl chr 3:105,762,305...105,777,800
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|
G |
Dll4 |
delta like canonical Notch ligand 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
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G |
Dmxl2 |
Dmx-like 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:54,741,164...54,884,948
Ensembl chr 8:54,741,160...54,885,161
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|
G |
Dnaaf4 |
dynein axonemal assembly factor 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292
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|
G |
Dnaja4 |
DnaJ heat shock protein family (Hsp40) member A4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,085,246...55,102,715
Ensembl chr 8:55,085,464...55,101,207
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|
G |
Dnajc17 |
DnaJ heat shock protein family (Hsp40) member C17 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,162,197...106,195,771
Ensembl chr 3:106,162,197...106,195,751
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|
G |
Dph6 |
diphthamine biosynthesis 6 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:101,307,229...101,437,463
Ensembl chr 3:101,307,231...101,534,603
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|
G |
Dpp8 |
dipeptidylpeptidase 8 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:65,550,620...65,605,828
Ensembl chr 8:65,550,677...65,605,825
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G |
Dtwd1 |
DTW domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:113,392,402...113,409,322
Ensembl chr 3:113,392,457...113,408,105
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G |
Duox1 |
dual oxidase 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,260,526...109,295,588
Ensembl chr 3:109,262,397...109,295,563
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G |
Duox2 |
dual oxidase 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
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G |
Duoxa1 |
dual oxidase maturation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,249,815...109,260,511
Ensembl chr 3:109,249,923...109,260,499
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|
G |
Duoxa2 |
dual oxidase maturation factor 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,245,337...109,249,055
Ensembl chr 3:109,245,476...109,248,968
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G |
Dut |
deoxyuridine triphosphatase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:112,498,864...112,509,994
Ensembl chr 3:112,498,982...112,510,771
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G |
Edc3 |
enhancer of mRNA decapping 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,106,147...58,151,685
Ensembl chr 8:58,106,175...58,151,671
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G |
Efl1 |
elongation factor like GTPase 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:136,638,527...136,763,518
Ensembl chr 1:136,638,527...136,763,518
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G |
Ehd4 |
EH-domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:107,058,191...107,121,985
Ensembl chr 3:107,058,958...107,122,002
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G |
Eid1 |
EP300 interacting inhibitor of differentiation 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:112,922,961...112,924,680
Ensembl chr 3:112,922,668...112,924,752
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G |
Eif2ak4 |
eukaryotic translation initiation factor 2 alpha kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
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G |
Eif3j |
eukaryotic translation initiation factor 3, subunit J |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:108,985,103...109,007,341
Ensembl chr 3:108,985,118...109,007,953
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G |
Ell3 |
elongation factor for RNA polymerase II 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:108,413,035...108,417,181
Ensembl chr 3:108,410,448...108,417,132
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G |
Emc4 |
ER membrane protein complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:99,169,711...99,174,730
Ensembl chr 3:99,169,711...99,174,729
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G |
Emc7 |
ER membrane protein complex subunit 7 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:99,263,933...99,274,365
Ensembl chr 3:99,263,980...99,274,360
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G |
Epb42 |
erythrocyte membrane protein band 4.2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932
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G |
Etfa |
electron transfer flavoprotein subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,835,115...55,891,890
Ensembl chr 8:55,835,134...55,891,969
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|
G |
Exd1 |
exonuclease 3'-5' domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,507,839...106,535,922
Ensembl chr 3:106,508,076...106,535,922
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|
G |
Fah |
fumarylacetoacetate hydrolase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505
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G |
Fam219b |
family with sequence similarity 219, member B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:57,941,327...57,946,916
Ensembl chr 8:57,941,294...57,946,906
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G |
Fam227b |
family with sequence similarity 227, member B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:113,226,662...113,392,396
Ensembl chr 3:113,233,205...113,392,320
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G |
Fam81a |
family with sequence similarity 81, member A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:70,762,852...70,821,898
Ensembl chr 8:70,763,614...70,821,875
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G |
Fam98b |
family with sequence similarity 98, member B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:104,134,803...104,164,249
Ensembl chr 3:104,134,824...104,163,704
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G |
Fanci |
FA complementation group I |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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G |
Fbn1 |
fibrillin 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Fbxl22 |
F-box and leucine-rich repeat protein 22 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:67,069,998...67,076,685
Ensembl chr 8:67,069,998...67,076,685
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G |
Fbxo22 |
F-box protein 22 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,579,906...55,595,981
Ensembl chr 8:55,579,891...55,596,148
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|
G |
Fem1b |
fem-1 homolog B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:63,265,301...63,278,577
Ensembl chr 8:63,265,301...63,278,577
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|
G |
Fes |
FES proto-oncogene, tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,337,698...134,346,934
Ensembl chr 1:134,337,698...134,346,934
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G |
Fgf7 |
fibroblast growth factor 7 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
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|
G |
Foxb1 |
forkhead box B1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:70,407,221...70,409,841
Ensembl chr 8:70,408,186...70,409,781
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G |
Frmd5 |
FERM domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:108,492,099...108,763,715
Ensembl chr 3:108,474,562...108,763,498
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G |
Fsd2 |
fibronectin type III and SPRY domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:135,484,002...135,522,517
Ensembl chr 1:135,489,266...135,522,472
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G |
Fsip1 |
fibrous sheath interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:105,074,584...105,217,180
Ensembl chr 3:105,068,543...105,217,167
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|
G |
Furin |
furin (paired basic amino acid cleaving enzyme) |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,348,142...134,361,182
Ensembl chr 1:134,348,144...134,364,314
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|
G |
Gabpb1 |
GA binding protein transcription factor subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:113,879,972...113,924,742
Ensembl chr 3:113,879,973...113,923,696
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G |
Galk2 |
galactokinase 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:113,110,057...113,243,014
Ensembl chr 3:113,110,030...113,233,306
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G |
Ganc |
glucosidase, alpha; neutral C |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:107,353,369...107,406,104
Ensembl chr 3:107,353,369...107,405,241
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G |
Gatm |
glycine amidinotransferase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
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G |
Gchfr |
GTP cyclohydrolase I feedback regulator |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,158,046...106,162,080
Ensembl chr 3:106,159,394...106,162,080
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G |
Gcnt3 |
glucosaminyl (N-acetyl) transferase 3, mucin type |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:70,689,173...70,696,476
Ensembl chr 8:70,686,844...70,699,562
|
|
G |
Gdpgp1 |
GDP-D-glucose phosphorylase 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr 1:134,184,119...134,193,281
Ensembl chr 1:134,183,696...134,219,783
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G |
Gjd2 |
gap junction protein, delta 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:100,771,450...100,776,134
Ensembl chr 3:100,772,062...100,775,061
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G |
Glce |
glucuronic acid epimerase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:62,546,104...62,612,144
Ensembl chr 8:62,546,107...62,612,040
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G |
Gldn |
gliomedin |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196
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G |
Gnb5 |
G protein subunit beta 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:76,076,120...76,105,069
Ensembl chr 8:76,073,306...76,105,069
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|
G |
Golm2 |
golgi membrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:108,827,017...108,896,207
Ensembl chr 3:108,827,047...108,896,207
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|
G |
Gpr176 |
G protein-coupled receptor 176 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:105,236,794...105,337,664
Ensembl chr 3:105,236,795...105,337,226
|
|
G |
Gramd2a |
GRAM domain containing 2A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:60,079,744...60,117,788
Ensembl chr 8:60,080,338...60,115,842
|
|
G |
Grem1 |
gremlin 1, DAN family BMP antagonist |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:100,512,317...100,524,001
Ensembl chr 3:100,512,313...100,524,082
|
|
G |
Gtf2a2 |
general transcription factor 2A subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:70,662,447...70,675,576
Ensembl chr 8:70,662,428...70,675,569
|
|
G |
Hacd3 |
3-hydroxyacyl-CoA dehydratase 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:65,501,240...65,538,507
Ensembl chr 8:65,501,240...65,538,507
|
|
G |
Hapln3 |
hyaluronan and proteoglycan link protein 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr 1:133,046,465...133,064,665
Ensembl chr 1:133,046,467...133,080,177
|
|
G |
Haus2 |
HAUS augmin like complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:107,553,146...107,565,982
Ensembl chr 3:107,553,161...107,565,157
|
|
G |
Hcn4 |
hyperpolarization activated cyclic nucleotide-gated potassium channel 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639
|
|
G |
Hdc |
histidine decarboxylase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:113,847,256...113,865,334
Ensembl chr 3:113,847,260...113,865,341
|
|
G |
Hddc3 |
HD domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,299,469...134,301,757
Ensembl chr 1:134,299,468...134,301,757
|
|
G |
Herc1 |
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:66,857,169...67,070,318
Ensembl chr 8:66,856,935...67,070,312
|
|
G |
Hexa |
hexosaminidase subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
|
|
G |
Hmg20a |
high mobility group 20A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:56,819,673...56,895,658
Ensembl chr 8:56,819,659...56,895,656
|
|
G |
Homer2 |
homer scaffold protein 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:135,558,977...135,659,780
Ensembl chr 1:135,567,414...135,659,772
|
|
G |
Hykk |
hydroxylysine kinase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,315,919...55,339,720
Ensembl chr 8:55,315,969...55,337,339
|
|
G |
Hypk |
Huntingtin interacting protein K |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:108,434,997...108,436,370
Ensembl chr 3:108,432,539...108,436,370
|
|
G |
Ice2 |
interactor of little elongation complex ELL subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:70,043,419...70,085,217
Ensembl chr 8:70,043,424...70,084,995
|
|
G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
|
|
G |
Idh3a |
isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:54,971,694...54,991,085
Ensembl chr 8:54,971,740...54,991,084
|
|
G |
Igdcc3 |
immunoglobulin superfamily, DCC subclass, member 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:65,661,165...65,707,961
Ensembl chr 8:65,661,196...65,707,959
|
|
G |
Igdcc4 |
immunoglobulin superfamily, DCC subclass, member 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:65,621,893...65,657,651
Ensembl chr 8:65,621,897...65,657,648
|
|
G |
Il16 |
interleukin 16 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130
|
|
G |
Imp3 |
IMP U3 small nucleolar ribonucleoprotein 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:57,339,528...57,340,416
Ensembl chr 8:57,339,496...57,340,414
|
|
G |
Ino80 |
INO80 complex ATPase subunit |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,368,455...106,465,716
Ensembl chr 3:106,368,455...106,467,911
|
|
G |
Insyn1 |
inhibitory synaptic factor 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,904,153...58,914,850
Ensembl chr 8:58,904,153...58,914,843
|
|
G |
Ints14 |
integrator complex subunit 14 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:65,475,788...65,500,807
Ensembl chr 8:65,475,910...65,500,804
|
|
G |
Iqch |
IQ motif containing H |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:63,889,816...64,083,248
Ensembl chr 8:63,892,370...64,083,223
|
|
G |
Iqgap1 |
IQ motif containing GTPase activating protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr 1:134,679,581...134,769,776
Ensembl chr 1:134,679,586...134,769,755
|
|
G |
Ireb2 |
iron responsive element binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611
|
|
G |
Isg20 |
interferon stimulated exonuclease gene 20 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:132,829,303...132,837,027
Ensembl chr 1:132,815,123...132,837,027
|
|
G |
Isl2 |
ISL LIM homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,923,805...55,928,790
Ensembl chr 8:55,923,805...55,928,790
|
|
G |
Islr |
immunoglobulin superfamily containing leucine-rich repeat |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,571,155...58,574,128
Ensembl chr 8:58,570,777...58,574,130
|
|
G |
Islr2 |
immunoglobulin superfamily containing leucine-rich repeat 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,608,165...58,616,246
Ensembl chr 8:58,608,709...58,614,650
|
|
G |
Itga11 |
integrin subunit alpha 11 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:63,145,998...63,254,714
Ensembl chr 8:63,146,001...63,254,407
|
|
G |
Itpka |
inositol-trisphosphate 3-kinase A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,726,036...106,734,601
Ensembl chr 3:106,726,036...106,734,600
|
|
G |
Ivd |
isovaleryl-CoA dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575
|
|
G |
Jmjd7 |
jumonji domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,998,454...107,004,538
Ensembl chr 3:106,998,477...107,004,538
|
|
G |
Katnbl1 |
katanin regulatory subunit B1 like 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:99,183,748...99,225,789
Ensembl chr 3:99,183,716...99,225,786
|
|
G |
Kbtbd13 |
kelch repeat and BTB domain containing 13 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:65,909,821...65,911,558
|
|
G |
Kif23 |
kinesin family member 23 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:62,397,908...62,425,162
Ensembl chr 8:62,397,948...62,425,072
|
|
G |
Kif7 |
kinesin family member 7 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
|
|
G |
Klhl25 |
kelch-like family member 25 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:129,724,894...129,750,142
Ensembl chr 1:129,722,026...129,750,227
|
|
G |
Knl1 |
kinetochore scaffold 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,029,627...106,091,915
Ensembl chr 3:106,029,661...106,091,915
|
|
G |
Knstrn |
kinetochore-localized astrin/SPAG5 binding protein |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:105,800,762...105,820,555
Ensembl chr 3:105,800,954...105,820,715
|
|
G |
Lactb |
lactamase, beta |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:67,571,504...67,587,592
Ensembl chr 8:67,571,500...67,587,539
|
|
G |
Larp6 |
La ribonucleoprotein 6, translational regulator |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:61,183,744...61,205,548
Ensembl chr 8:61,184,116...61,205,535
|
|
G |
Lcmt2 |
leucine carboxyl methyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:108,099,960...108,102,084
Ensembl chr 3:108,099,961...108,102,084
|
|
G |
Lctl |
lactase-like |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:64,618,356...64,654,851
Ensembl chr 8:64,618,350...64,639,357
|
|
G |
Ldhal6b |
lactate dehydrogenase A-like 6B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:45,997,845...45,999,268
Ensembl chr 1:45,991,991...45,999,272
|
|
G |
Leo1 |
LEO1 homolog, Paf1/RNA polymerase II complex component |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:76,199,547...76,223,983
Ensembl chr 8:76,199,099...76,223,983
|
|
G |
Lingo1 |
leucine rich repeat and Ig domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:57,011,272...57,193,496
Ensembl chr 8:57,010,007...57,196,544
|
|
G |
Lipc |
lipase C, hepatic type |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
|
|
G |
Lman1l |
lectin, mannose-binding, 1 like |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,010,839...58,029,599
Ensembl chr 8:58,010,839...58,023,681
|
|
G |
LOC120094549 |
U5 spliceosomal RNA |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:65,720,876...65,720,991
Ensembl chr 8:65,720,876...65,720,991
|
|
G |
LOC120094551 |
U6 spliceosomal RNA |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:63,594,040...63,594,146
Ensembl chr 8:63,594,040...63,594,146
|
|
G |
Loxl1 |
lysyl oxidase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356
|
|
G |
Lpcat4 |
lysophosphatidylcholine acyltransferase 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:99,044,729...99,052,963
Ensembl chr 3:99,044,729...99,052,875
|
|
G |
Lrrc49 |
leucine rich repeat containing 49 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:61,053,264...61,160,695
Ensembl chr 8:61,053,267...61,160,850
|
|
G |
Lrrc57 |
leucine rich repeat containing 57 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:107,544,786...107,553,256
Ensembl chr 3:107,547,405...107,553,256
|
|
G |
Ltk |
leukocyte receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,734,675...106,741,552
Ensembl chr 3:106,734,676...106,743,369
|
|
G |
Lysmd2 |
LysM domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:76,378,984...76,394,396
Ensembl chr 8:76,379,219...76,394,654
|
|
G |
Man2a2 |
mannosidase, alpha, class 2A, member 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,304,714...134,327,611
Ensembl chr 1:134,306,236...134,327,315
|
|
G |
Man2c1 |
mannosidase, alpha, class 2C, member 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:57,537,879...57,549,691
Ensembl chr 8:57,537,321...57,549,690
|
|
G |
Map1a |
microtubule-associated protein 1A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:108,263,217...108,283,936
Ensembl chr 3:108,263,151...108,282,899
|
|
G |
Map2k1 |
mitogen activated protein kinase kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
|
|
G |
Map2k5 |
mitogen activated protein kinase kinase 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:63,625,220...63,852,090
Ensembl chr 8:63,625,221...63,851,983
|
|
G |
Mapk6 |
mitogen-activated protein kinase 6 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:76,146,650...76,169,767
Ensembl chr 8:76,146,690...76,169,720
|
|
G |
Mapkbp1 |
mitogen activated protein kinase binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,947,342...106,998,368
Ensembl chr 3:106,947,827...106,996,199
|
|
G |
Megf11 |
multiple EGF-like-domains 11 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:64,892,312...65,218,984
Ensembl chr 8:64,892,387...65,216,061
|
|
G |
Meis2 |
Meis homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696
|
|
G |
Mesd |
mesoderm development LRP chaperone |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:137,866,707...137,879,999
Ensembl chr 1:137,874,242...137,879,999
|
|
G |
Mesp1 |
mesoderm posterior bHLH transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr 1:133,738,357...133,739,875
Ensembl chr 1:133,738,357...133,739,875
|
|
G |
Mesp2 |
mesoderm posterior bHLH transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr 1:133,756,601...133,759,207
Ensembl chr 1:133,756,601...133,759,198
|
|
G |
Mex3b |
mex-3 RNA binding family member B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:136,855,130...136,859,365
Ensembl chr 1:136,855,130...136,859,354
|
|
G |
Mfap1a |
microfibrillar-associated protein 1A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:108,440,163...108,456,744
Ensembl chr 3:108,438,845...108,456,750
|
|
G |
Mfge8 |
milk fat globule EGF and factor V/VIII domain containing |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr 1:133,064,665...133,080,069
Ensembl chr 1:133,064,665...133,080,073
|
|
G |
Mga |
MAX dimerization protein MGA |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043
|
|
G |
Minar1 |
membrane integral NOTCH2 associated receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:90,137,374...90,169,152
Ensembl chr 8:90,137,374...90,169,137
|
|
G |
Mindy2 |
MINDY lysine 48 deubiquitinase 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:71,268,274...71,327,698
Ensembl chr 8:71,256,447...71,328,453
|
|
G |
Mir184 |
microRNA 184 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:90,343,134...90,343,210
Ensembl chr 8:90,343,134...90,343,210
|
|
G |
Mir9-3 |
microRNA 9-3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr 1:133,440,049...133,440,138
|
|
G |
Mns1 |
meiosis-specific nuclear structural 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:73,148,877...73,169,570
Ensembl chr 8:73,148,877...73,176,925
|
|
G |
Morf4l1 |
mortality factor 4 like 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:90,642,988...90,664,518
Ensembl chr 8:90,642,988...90,664,519
|
|
G |
Mpi |
mannose phosphate isomerase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:57,947,883...57,956,205
Ensembl chr 8:57,947,893...57,956,150
|
|
G |
Mrpl46 |
mitochondrial ribosomal protein L46 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:132,698,872...132,707,639
Ensembl chr 1:132,698,601...132,707,628
|
|
G |
Mrps11 |
mitochondrial ribosomal protein S11 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:132,707,601...132,717,253
Ensembl chr 1:132,680,420...132,717,253
|
|
G |
Mtfmt |
mitochondrial methionyl-tRNA formyltransferase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841
|
|
G |
Mthfs |
methenyltetrahydrofolate synthetase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:89,729,498...89,801,998
Ensembl chr 8:89,729,508...89,799,089
|
|
G |
Myef2 |
myelin expression factor 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:112,338,241...112,374,122
Ensembl chr 3:112,338,241...112,374,181
|
|
G |
Myo1e |
myosin IE |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:70,887,934...71,080,180
Ensembl chr 8:70,887,870...71,080,169
|
|
G |
Myo5a |
myosin VA |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918
|
|
G |
Myo5c |
myosin VC |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:75,989,497...76,066,485
Ensembl chr 8:75,989,528...76,066,483
|
|
G |
Myo9a |
myosin IXA |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:60,149,234...60,352,330
Ensembl chr 8:60,149,234...60,350,514
|
|
G |
Myzap |
myocardial zonula adherens protein |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:72,155,817...72,243,036
Ensembl chr 8:72,131,530...72,243,036
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G |
Ndufaf1 |
NADH:ubiquinone oxidoreductase complex assembly factor 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,639,025...106,650,549
Ensembl chr 3:106,639,851...106,650,212
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G |
Nedd4 |
NEDD4 E3 ubiquitin protein ligase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:73,384,095...73,468,951
Ensembl chr 8:73,383,695...73,468,951
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G |
Neil1 |
nei-like DNA glycosylase 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258
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G |
Neo1 |
neogenin 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:59,273,860...59,426,486
Ensembl chr 8:59,275,569...59,430,348
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G |
Ngrn |
neugrin, neurite outgrowth associated |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr 1:134,213,235...134,219,348
Ensembl chr 1:134,213,456...134,219,339
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G |
Nmb |
neuromedin B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,869,446...134,875,507
Ensembl chr 1:134,869,446...134,872,190
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G |
Nop10 |
NOP10 ribonucleoprotein |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942
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G |
Nptn |
neuroplastin |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,996,873...59,063,402
Ensembl chr 8:58,996,887...59,063,401
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G |
Nr2e3 |
nuclear receptor subfamily 2, group E, member 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163
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G |
Nrg4 |
neuregulin 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,586,253...55,677,829
Ensembl chr 8:55,592,893...55,677,483
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G |
Nsmce2 |
NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase |
|
ISS |
OMIM:210900 |
MouseDO |
|
|
NCBI chr 7:90,936,112...91,173,435
Ensembl chr 7:90,936,112...91,164,899
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G |
Ntrk3 |
neurotrophic receptor tyrosine kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:132,116,472...132,503,849
Ensembl chr 1:132,132,849...132,503,286
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G |
Nusap1 |
nucleolar and spindle associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,603,273...106,633,428
Ensembl chr 3:106,603,289...106,633,624
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G |
Nutm1 |
NUT midline carcinoma, family member 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:99,053,510...99,064,311
Ensembl chr 3:99,053,510...99,064,311
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G |
Oaz2 |
ornithine decarboxylase antizyme 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:66,199,694...66,213,513
Ensembl chr 8:66,199,706...66,231,453
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G |
Oip5 |
Opa interacting protein 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,593,746...106,603,281
Ensembl chr 3:106,593,760...106,603,250
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G |
Onecut1 |
one cut homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:75,599,432...75,633,598
Ensembl chr 8:75,599,740...75,627,277
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G |
Pak6 |
p21 (RAC1) activated kinase 6 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:105,638,248...105,674,399
Ensembl chr 3:105,638,653...105,672,975
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G |
Paqr5 |
progestin and adipoQ receptor family member 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:62,431,867...62,513,688
Ensembl chr 8:62,431,867...62,513,688
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|
G |
Parp16 |
poly (ADP-ribose) polymerase family, member 16 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:65,731,152...65,749,438
Ensembl chr 8:65,727,706...65,749,433
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|
G |
Parp6 |
poly (ADP-ribose) polymerase family, member 6 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:60,016,594...60,049,108
Ensembl chr 8:60,016,877...60,049,108
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|
G |
Patl2 |
PAT1 homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,072,958...109,087,425
Ensembl chr 3:109,075,290...109,083,253
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|
G |
Pclaf |
PCNA clamp associated factor |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:66,420,606...66,432,994
Ensembl chr 8:66,420,587...66,432,994 Ensembl chr 8:66,420,587...66,432,994
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|
G |
Pdcd7 |
programmed cell death 7 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:65,862,606...65,877,333
Ensembl chr 8:65,862,387...65,877,333
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|
G |
Pde8a |
phosphodiesterase 8A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:135,166,143...135,288,986
Ensembl chr 1:135,166,237...135,288,024
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|
G |
Pdia3 |
protein disulfide isomerase family A, member 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236
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|
G |
Peak1 |
pseudopodium-enriched atypical kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:56,605,040...56,819,748
Ensembl chr 8:56,609,015...56,819,096
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|
G |
Pex11a |
peroxisomal biogenesis factor 11 alpha |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr 1:133,680,091...133,687,172
Ensembl chr 1:133,680,091...133,687,172
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G |
Phgr1 |
proline, histidine and glycine rich 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:105,742,822...105,760,835
Ensembl chr 3:105,757,581...105,760,832
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|
G |
Pias1 |
protein inhibitor of activated STAT, 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:63,338,150...63,451,670
Ensembl chr 8:63,338,150...63,438,905
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|
G |
Pierce2 |
piercer of microtubule wall 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:73,715,383...73,719,849
Ensembl chr 8:73,715,383...73,719,849
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|
G |
Pif1 |
PIF1 5'-to-3' DNA helicase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:66,110,641...66,120,202
Ensembl chr 8:66,111,072...66,120,200
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G |
Pigb |
phosphatidylinositol glycan anchor biosynthesis, class B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:73,751,756...73,775,679
Ensembl chr 8:73,751,798...73,775,679
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|
G |
Pkm |
pyruvate kinase M1/2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:60,057,629...60,079,600
Ensembl chr 8:60,057,402...60,079,599
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G |
Pla2g4b |
phospholipase A2 group IVB |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:107,004,238...107,013,853
Ensembl chr 3:107,005,489...107,013,853
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G |
Pla2g4d |
phospholipase A2 group IVD |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:107,220,973...107,242,224
Ensembl chr 3:107,220,978...107,242,224
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G |
Pla2g4e |
phospholipase A2, group IVE |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:107,132,540...107,198,609
Ensembl chr 3:107,132,541...107,198,233
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G |
Pla2g4f |
phospholipase A2, group IVF |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:107,249,053...107,266,201
Ensembl chr 3:107,250,075...107,264,689
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G |
Plcb2 |
phospholipase C, beta 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:105,683,676...105,704,384
Ensembl chr 3:105,684,815...105,704,302
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G |
Plekho2 |
pleckstrin homology domain containing O2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:66,079,106...66,105,283
Ensembl chr 8:66,078,448...66,105,266
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G |
Plin1 |
perilipin 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr 1:133,664,294...133,676,854
Ensembl chr 1:133,664,892...133,676,828
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G |
Pml |
PML nuclear body scaffold |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Polr2m |
RNA polymerase II subunit M |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:72,131,992...72,139,423
Ensembl chr 8:72,131,530...72,243,036
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|
G |
Ppcdc |
phosphopantothenoylcysteine decarboxylase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:57,815,195...57,842,863
Ensembl chr 8:57,815,195...58,000,570
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G |
Ppib |
peptidylprolyl isomerase B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:66,603,877...66,609,734
Ensembl chr 8:66,603,861...66,630,428
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G |
Ppip5k1 |
diphosphoinositol pentakisphosphate kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:108,284,120...108,327,683
Ensembl chr 3:108,284,120...108,323,428
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G |
Ppp1r14d |
protein phosphatase 1, regulatory (inhibitor) subunit 14D |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,205,043...106,219,290
Ensembl chr 3:106,205,046...106,219,649
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G |
Prc1 |
protein regulator of cytokinesis 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,250,086...134,271,765
Ensembl chr 1:134,250,081...134,271,765
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G |
Prtg |
protogenin |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:73,548,440...73,657,945
Ensembl chr 8:73,548,466...73,653,259
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G |
Psma4 |
proteasome 20S subunit alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,340,431...55,347,893
Ensembl chr 8:55,340,386...55,347,890
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G |
Pstpip1 |
proline-serine-threonine phosphatase-interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
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G |
Ptpn9 |
protein tyrosine phosphatase, non-receptor type 9 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:57,391,290...57,472,352
Ensembl chr 8:57,391,259...57,470,952
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G |
Pygo1 |
pygopus family PHD finger 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:73,666,210...73,684,873
Ensembl chr 8:73,665,593...73,684,869
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G |
Rab11a |
RAB11a, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:65,223,698...65,246,461
Ensembl chr 8:65,222,949...65,246,525
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G |
Rab27a |
RAB27A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
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G |
Rab8b |
RAB8B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:67,458,921...67,536,466
Ensembl chr 8:67,458,923...67,536,384
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G |
Rad51 |
RAD51 recombinase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,099,753...106,125,038
Ensembl chr 3:106,100,381...106,125,035
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G |
Ramac |
RNA guanine-7 methyltransferase activating subunit |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:135,708,529...135,714,417
Ensembl chr 1:135,708,535...135,722,151
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G |
Rasgrf1 |
RAS protein-specific guanine nucleotide-releasing factor 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:90,445,154...90,574,274
Ensembl chr 8:90,445,154...90,574,269
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G |
Rasgrp1 |
RAS guanyl releasing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:104,168,549...104,230,107
Ensembl chr 3:104,170,013...104,230,056
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G |
Rasl12 |
RAS-like, family 12 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:65,917,840...65,931,885
Ensembl chr 8:65,917,840...65,932,741
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|
G |
Rbpms2 |
RNA binding protein, mRNA processing factor 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:66,153,169...66,184,278
Ensembl chr 8:66,153,593...66,184,268
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G |
Rccd1 |
RCC1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,271,870...134,281,556
Ensembl chr 1:134,271,857...134,280,781
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G |
Rcn2 |
reticulocalbin 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:56,449,206...56,466,253
Ensembl chr 8:56,449,206...56,466,251
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G |
Rec114 |
REC114 meiotic recombination protein |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:59,063,352...59,221,439
Ensembl chr 8:59,063,352...59,149,887
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G |
Rfx7 |
regulatory factor X, 7 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:73,254,051...73,339,209
Ensembl chr 8:73,254,051...73,339,209
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G |
Rhcg |
Rh family, C glycoprotein |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr 1:133,531,704...133,555,902
Ensembl chr 1:133,531,716...133,555,876
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G |
Rhov |
ras homolog family member V |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,260,774...106,270,009
Ensembl chr 3:106,260,776...106,269,479
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G |
Rlbp1 |
retinaldehyde binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296
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G |
Rmdn3 |
regulator of microtubule dynamics 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,125,961...106,146,568
Ensembl chr 3:106,125,951...106,146,586
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G |
Rnf111 |
ring finger protein 111 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:71,103,967...71,180,172
Ensembl chr 8:71,103,973...71,145,070
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|
G |
Rora |
RAR-related orphan receptor A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:69,301,635...70,034,741
Ensembl chr 8:69,301,733...70,025,931
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|
G |
Rpap1 |
RNA polymerase II associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,746,642...106,768,182
Ensembl chr 3:106,656,742...106,768,151
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|
G |
Rpl4 |
ribosomal protein L4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:64,671,177...64,676,301
Ensembl chr 8:64,671,160...64,676,306
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|
G |
Rplp1 |
ribosomal protein lateral stalk subunit P1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:62,394,008...62,395,341
Ensembl chr 8:62,393,177...62,395,339
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G |
Rpp25 |
ribonuclease P and MRP subunit p25 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:57,907,352...57,908,732
Ensembl chr 8:57,907,352...57,908,732
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G |
Rps17 |
ribosomal protein S17 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:135,295,920...135,298,506
Ensembl chr 1:135,295,919...135,298,535 Ensembl chr 8:135,295,919...135,298,535
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G |
Rps27l |
ribosomal protein S27-like |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:67,562,483...67,567,418
Ensembl chr 8:67,562,483...67,567,418
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G |
Rpusd2 |
RNA pseudouridine synthase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,017,759...106,023,010
Ensembl chr 3:106,017,864...106,023,251
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G |
Rsl24d1 |
ribosomal L24 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:73,852,991...73,861,996
Ensembl chr 8:73,852,996...73,862,001
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G |
Rtf1 |
Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,659,363...106,718,956
Ensembl chr 3:106,659,308...106,718,970
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G |
Ryr3 |
ryanodine receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961
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G |
Saxo2 |
stabilizer of axonemal microtubules 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:136,596,445...136,638,444
Ensembl chr 1:136,623,493...136,638,454
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G |
Scamp2 |
secretory carrier membrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:57,965,612...57,992,248
Ensembl chr 8:57,965,631...57,992,646
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G |
Scamp5 |
secretory carrier membrane protein 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:57,845,831...57,884,516
Ensembl chr 8:57,846,659...57,872,027
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G |
Scaper |
S-phase cyclin A-associated protein in the ER |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,932,717...56,332,222
Ensembl chr 8:55,933,306...56,332,122
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G |
Scarna15 |
small Cajal body-specific RNA 15 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:135,484,620...135,484,683
Ensembl chr 1:135,484,559...135,484,685 Ensembl chr 1:135,484,559...135,484,685
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G |
Scg3 |
secretogranin III |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:76,399,777...76,442,015
Ensembl chr 8:76,399,777...76,442,015
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G |
Scg5 |
secretogranin V |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:100,544,101...100,588,558
Ensembl chr 3:100,544,099...100,588,463
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G |
Sec11a |
SEC11 homolog A, signal peptidase complex subunit |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,881,448...134,909,427
Ensembl chr 1:134,875,265...134,915,069
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G |
Secisbp2l |
SECIS binding protein 2-like |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:112,989,613...113,036,060
Ensembl chr 3:112,991,908...113,035,884
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G |
Sema4b |
semaphorin 4B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr 1:134,136,646...134,177,777
Ensembl chr 1:134,149,536...134,177,775
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G |
Sema6d |
semaphorin 6D |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:111,883,415...111,941,100
Ensembl chr 3:111,883,872...111,941,094
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G |
Sema7a |
semaphorin 7A (John Milton Hagen blood group) |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,348,448...58,370,536
Ensembl chr 8:58,348,448...58,370,536
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G |
Senp8 |
SUMO peptidase family member, NEDD8 specific |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:60,135,446...60,148,836
Ensembl chr 8:60,121,714...60,148,928
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G |
Serf2 |
small EDRK-rich factor 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:108,426,960...108,430,736
Ensembl chr 3:108,426,887...108,430,724
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G |
Serinc4 |
serine incorporator 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:108,428,896...108,434,778
Ensembl chr 3:108,428,897...108,434,778
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G |
Sh2d7 |
SH2 domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:54,918,399...54,930,129
Ensembl chr 8:54,918,406...54,929,726
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G |
Sh3gl3 |
SH3 domain containing GRB2 like 3, endophilin A3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:136,124,500...136,255,669
Ensembl chr 1:136,124,499...136,255,584
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G |
Shc4 |
SHC adaptor protein 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:112,880,598...112,974,216
Ensembl chr 3:112,880,600...112,974,366
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G |
Shf |
Src homology 2 domain containing F |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,296,517...109,316,315
Ensembl chr 3:109,296,784...109,316,328
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G |
Sin3a |
SIN3 transcription regulator family member A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192
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G |
Skic8 |
SKI8 subunit of superkiller complex |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,103,542...55,120,837
Ensembl chr 8:55,103,545...55,120,813
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G |
Skor1 |
SKI family transcriptional corepressor 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:63,599,153...63,609,727
Ensembl chr 8:63,599,165...63,607,756
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G |
Slc12a1 |
solute carrier family 12 member 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899
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G |
Slc12a6 |
solute carrier family 12, member 6 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258
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G |
Slc24a1 |
solute carrier family 24 member 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:65,440,842...65,466,001
Ensembl chr 8:65,440,730...65,466,001
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G |
Slc24a5 |
solute carrier family 24 member 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:112,319,349...112,338,889
Ensembl chr 3:112,319,308...112,339,231
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G |
Slc27a2 |
solute carrier family 27 member 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:113,804,728...113,842,208
Ensembl chr 3:113,804,728...113,842,208
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G |
Slc28a1 |
solute carrier family 28 member 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:135,079,375...135,122,791
Ensembl chr 1:135,081,385...135,122,464
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G |
Slc28a2 |
solute carrier family 28 member 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,324,815...109,387,702
Ensembl chr 3:109,366,996...109,387,702
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G |
Slc30a4 |
solute carrier family 30 member 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,753,270...109,775,306
Ensembl chr 3:109,753,273...109,775,306
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G |
Slc51b |
SLC51 subunit beta |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:65,931,891...65,939,953
Ensembl chr 8:65,931,890...65,940,145
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G |
Sltm |
SAFB-like, transcription modulator |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:71,215,995...71,261,821
Ensembl chr 8:71,216,612...71,261,825
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G |
Smad3 |
SMAD family member 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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G |
Smad6 |
SMAD family member 6 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
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G |
Snap23 |
synaptosome associated protein 23 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:107,514,088...107,546,177
Ensembl chr 3:107,514,131...107,544,320
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G |
Snapc5 |
small nuclear RNA activating complex, polypeptide 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:64,677,204...64,680,769
Ensembl chr 8:64,677,205...64,681,964
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G |
Snupn |
snurportin 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:57,347,412...57,388,345
Ensembl chr 8:57,348,130...57,380,912
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G |
Snx1 |
sorting nexin 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:66,630,086...66,670,418
Ensembl chr 8:66,630,086...66,670,360
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G |
Snx22 |
sorting nexin 22 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:66,609,914...66,612,932
Ensembl chr 8:66,609,970...66,612,850
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G |
Snx33 |
sorting nexin 33 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:57,315,861...57,328,522
Ensembl chr 8:57,317,161...57,327,538
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G |
Sord |
sorbitol dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133
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G |
Spesp1 |
sperm equatorial segment protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:62,751,313...62,766,657
Ensembl chr 8:62,751,297...62,766,718
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G |
Spg11 |
SPG11 vesicle trafficking associated, spatacsin |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
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G |
Spg21 |
SPG21 abhydrolase domain containing, maspardin |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:65,980,992...66,008,537
Ensembl chr 8:65,980,962...66,008,536
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G |
Spint1 |
serine peptidase inhibitor, Kunitz type 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,231,082...106,244,121
Ensembl chr 3:106,231,444...106,244,119
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G |
Sppl2a |
signal peptide peptidase-like 2A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:114,149,337...114,193,408
Ensembl chr 3:114,151,069...114,193,264
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G |
Spred1 |
sprouty-related, EVH1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718
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G |
Sptbn5 |
spectrin, beta, non-erythrocytic 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:107,013,783...107,054,878
Ensembl chr 3:107,013,265...107,054,324
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G |
Sqor |
sulfide quinone oxidoreductase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,841,225...109,886,724
Ensembl chr 3:109,841,250...109,960,778
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G |
Srp14 |
signal recognition particle 14 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:105,442,184...105,445,875
Ensembl chr 3:105,442,198...105,445,859
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G |
Stard5 |
StAR-related lipid transfer domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:137,606,151...137,616,017
Ensembl chr 1:137,606,177...137,616,469
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G |
Stard9 |
StAR-related lipid transfer domain containing 9 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:107,581,097...107,672,746
Ensembl chr 3:107,581,164...107,673,898
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G |
Stoml1 |
stomatin like 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,661,980...58,669,860
Ensembl chr 8:58,661,992...58,669,860
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G |
Stra6 |
signaling receptor and transporter of retinol STRA6 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860
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G |
Strc |
stereocilin |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134
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G |
Tbc1d21 |
TBC1 domain family, member 21 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,761,562...58,773,711
Ensembl chr 8:58,761,563...58,773,711
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G |
Tbc1d2b |
TBC1 domain family, member 2B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:90,746,220...90,814,867
Ensembl chr 8:90,746,233...90,814,832
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G |
Tcf12 |
transcription factor 12 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:72,490,447...72,799,265
Ensembl chr 8:72,492,567...72,799,201
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G |
Terb2 |
telomere repeat binding bouquet formation protein 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,138,343...109,156,700
Ensembl chr 3:109,138,343...109,156,683
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G |
Tex9 |
testis expressed 9 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:73,168,519...73,213,935
Ensembl chr 8:73,177,810...73,214,261
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G |
Tgm5 |
transglutaminase 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:108,008,087...108,044,013
Ensembl chr 3:108,008,143...108,043,976
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G |
Tgm7 |
transglutaminase 7 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:108,051,890...108,068,116
Ensembl chr 3:108,051,890...108,076,239
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G |
Thbs1 |
thrombospondin 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440
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G |
Thsd4 |
thrombospondin type 1 domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:60,384,636...60,984,419
Ensembl chr 8:60,386,875...61,024,995
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G |
Ticrr |
TOPBP1-interacting checkpoint and replication regulator |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr 1:133,597,618...133,639,513
Ensembl chr 1:133,597,716...133,639,523
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G |
Tipin |
timeless interacting protein |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:64,780,813...64,801,358
Ensembl chr 8:64,780,828...64,801,352
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G |
Tle3 |
TLE family member 3, transcriptional corepressor |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:61,857,791...61,903,505
Ensembl chr 8:61,858,200...61,903,493
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G |
Tln2 |
talin 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:67,830,920...68,252,240
Ensembl chr 8:67,834,326...68,252,219
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G |
Tlnrd1 |
talin rod domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:137,864,340...137,866,359
Ensembl chr 1:137,864,343...137,866,359
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G |
Tm6sf1 |
transmembrane 6 superfamily member 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:135,799,844...135,828,515
Ensembl chr 1:135,786,381...135,828,443
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G |
Tmc3 |
transmembrane channel-like 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:137,552,347...137,597,477
Ensembl chr 1:137,552,455...137,597,633
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G |
Tmco5a |
transmembrane and coiled-coil domains 5A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:103,732,936...103,746,242
Ensembl chr 3:103,732,945...103,746,249
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G |
Tmed3 |
transmembrane p24 trafficking protein 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:90,241,516...90,249,429
Ensembl chr 8:90,241,516...90,249,346
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G |
Tmem202 |
transmembrane protein 202 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:59,910,824...59,919,342
Ensembl chr 8:59,910,824...59,916,609
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G |
Tmem266 |
transmembrane protein 266 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:55,707,122...55,820,692
Ensembl chr 8:55,707,122...55,820,692
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G |
Tmem62 |
transmembrane protein 62 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:107,921,940...107,961,830
Ensembl chr 3:107,927,307...107,961,795
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G |
Tmem87a |
transmembrane protein 87A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:107,307,726...107,353,571
Ensembl chr 3:107,307,726...107,353,551
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G |
Tmod2 |
tropomodulin 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:76,316,736...76,366,003
Ensembl chr 8:76,325,667...76,365,720
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G |
Tmod3 |
tropomodulin 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:76,248,978...76,310,855
Ensembl chr 8:76,248,979...76,310,977
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G |
Tnfaip8l3 |
TNF alpha induced protein 8 like 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:54,413,503...54,455,512
Ensembl chr 8:54,414,457...54,500,079
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G |
Tp53bp1 |
tumor protein p53 binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:108,166,574...108,270,229
Ensembl chr 3:108,169,980...108,269,822
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G |
Tpm1 |
tropomyosin 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
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G |
Trim69 |
tripartite motif-containing 69 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,111,468...109,135,255
Ensembl chr 3:109,111,468...109,132,037
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G |
Trip4 |
thyroid hormone receptor interactor 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:66,351,861...66,439,679
Ensembl chr 8:66,353,248...66,439,774
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G |
Trpm7 |
transient receptor potential cation channel, subfamily M, member 7 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190
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G |
Tspan3 |
tetraspanin 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:56,546,067...56,569,815
Ensembl chr 8:56,546,069...56,569,880
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G |
Ttbk2 |
tau tubulin kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:107,691,123...107,802,911
Ensembl chr 3:107,697,340...107,803,223
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G |
Tubgcp4 |
tubulin gamma complex component 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:108,141,081...108,172,207
Ensembl chr 3:108,141,625...108,169,437
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G |
Tyro3 |
TYRO3 protein tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:106,777,686...106,797,154
Ensembl chr 3:106,777,635...106,797,142
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G |
Uaca |
uveal autoantigen with coiled-coil domains and ankyrin repeats |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:61,259,415...61,347,789
Ensembl chr 8:61,259,477...61,347,789
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G |
Ubap1l |
ubiquitin associated protein 1-like |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:65,877,488...65,897,593
Ensembl chr 8:65,884,729...65,897,593
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G |
Ube2q2 |
ubiquitin conjugating enzyme E2 Q2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:55,518,402...55,578,342
Ensembl chr 8:55,519,147...55,577,212
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G |
Ubl7 |
ubiquitin-like 7 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:58,321,279...58,340,353
Ensembl chr 8:58,320,866...58,340,344
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G |
Ubr1 |
ubiquitin protein ligase E3 component n-recognin 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:107,813,721...107,921,701
Ensembl chr 3:107,811,392...107,922,204
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G |
Ulk3 |
unc-51 like kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:57,992,396...58,000,220
Ensembl chr 8:57,992,723...57,999,467
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G |
Unc13c |
unc-13 homolog C |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:74,247,026...74,697,629
Ensembl chr 8:74,247,899...74,673,223
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G |
Unc45a |
unc-45 myosin chaperone A |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:134,281,930...134,296,661
Ensembl chr 1:134,281,933...134,301,586
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G |
Ung |
uracil-DNA glycosylase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2106500 |
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NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206
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G |
Usp3 |
ubiquitin specific peptidase 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:67,078,249...67,154,109
Ensembl chr 8:67,079,927...67,154,111
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G |
Usp50 |
ubiquitin specific peptidase 50 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:114,012,104...114,035,468
Ensembl chr 3:114,011,702...114,035,476
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G |
Usp8 |
ubiquitin specific peptidase 8 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666
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G |
Vps13c |
vacuolar protein sorting 13 homolog C |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:68,478,366...68,651,893
Ensembl chr 8:68,478,395...68,651,895
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G |
Vps18 |
VPS18 core subunit of CORVET and HOPS complexes |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,279,444...106,290,298
Ensembl chr 3:106,279,425...106,291,964
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G |
Vps39 |
VPS39 subunit of HOPS complex |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:107,266,846...107,304,884
Ensembl chr 3:107,267,310...107,304,975
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G |
Wdr72 |
WD repeat domain 72 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
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G |
Wdr73 |
WD repeat domain 73 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479
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G |
Wdr76 |
WD repeat domain 76 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:108,456,784...108,491,528
Ensembl chr 3:108,456,815...108,490,840
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G |
Wdr93 |
WD repeat domain 93 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
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NCBI chr 1:133,687,254...133,737,449
Ensembl chr 1:133,687,248...133,733,630
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G |
Whamm |
WASP homolog associated with actin, golgi membranes and microtubules |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:135,526,363...135,557,091
Ensembl chr 1:135,526,386...135,554,759
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G |
Zfand6 |
zinc finger AN1-type containing 6 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:138,581,002...138,652,052
Ensembl chr 1:138,581,002...138,651,939
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G |
Zfp106 |
zinc finger protein 106 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:107,459,232...107,510,507
Ensembl chr 3:107,462,096...107,510,481
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G |
Zfp280d |
zinc finger protein 280D |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:72,992,655...73,080,482
Ensembl chr 8:72,992,650...73,080,480
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G |
Zfp592 |
zinc finger protein 592 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443
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G |
Zfp609 |
zinc finger protein 609 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:66,214,553...66,349,319
Ensembl chr 8:66,214,555...66,317,977
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G |
Zfp710 |
zinc finger protein 710 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
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NCBI chr 1:133,966,256...134,036,593
Ensembl chr 1:134,024,267...134,036,601
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G |
Zfp770 |
zinc finger protein 770 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:100,963,430...100,971,663
Ensembl chr 3:100,963,427...100,971,684
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G |
Zfyve19 |
zinc finger FYVE-type containing 19 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:106,195,779...106,203,969
Ensembl chr 3:106,195,899...106,203,969
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G |
Zscan2 |
zinc finger and SCAN domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:134,833,701...134,848,957
Ensembl chr 1:134,833,871...134,848,952
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G |
Zscan29-ps1 |
zinc finger and SCAN domain containing 29, pseudogene 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:108,136,468...108,140,431
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G |
Zwilch |
zwilch kinetochore protein |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:64,638,401...64,670,911
Ensembl chr 8:64,637,672...64,675,916
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G |
Col4a1 |
collagen type IV alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Porencephaly 2 |
ClinVar |
PMID:25741868 |
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NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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G |
Col4a2 |
collagen type IV alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: COL4A2-related condition | ClinVar Annotator: match by term: COL4A2-related disorder | ClinVar Annotator: match by term: Porencephaly 2 |
ClinVar OMIM |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22209246 PMID:22209247 PMID:22333902 PMID:22914737 PMID:24001601 PMID:24390199 PMID:24646874 PMID:25326635 PMID:25653287 PMID:25719457 PMID:25741868 PMID:27794444 PMID:28492532 PMID:30315939 PMID:30413629 PMID:30859180 PMID:31069529 PMID:31719132 PMID:32040484 PMID:32154576 PMID:32732225 PMID:33527515 PMID:33912663 PMID:34531397 More...
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NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
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G |
Ccdc32 |
coiled-coil domain containing 32 |
|
ISO |
ClinVar Annotator: match by term: Cardiofacioneurodevelopmental syndrome |
OMIM ClinVar |
PMID:25741868 PMID:32307552 PMID:35451546 |
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NCBI chr 3:105,998,429...106,010,985
Ensembl chr 3:105,998,430...106,010,975
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G |
Adgrg4 |
adhesion G protein-coupled receptor G4 |
|
ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:134,734,610...134,864,449
Ensembl chr X:134,854,736...134,864,449
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G |
Arhgef6 |
Rac/Cdc42 guanine nucleotide exchange factor 6 |
|
ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:135,145,447...135,264,636
Ensembl chr X:135,146,786...135,275,304
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G |
Brs3 |
bombesin receptor subtype 3 |
|
ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:134,906,817...134,932,321
Ensembl chr X:134,906,784...134,930,983
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G |
Cd40lg |
CD40 ligand |
|
ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
|
ISO |
ClinVar Annotator: match by term: Angelman syndrome-like |
ClinVar |
PMID:15499549 PMID:16015284 PMID:16611748 PMID:16813600 PMID:17993579 PMID:18414213 PMID:19241098 PMID:19564592 PMID:19740913 PMID:20397747 PMID:20479760 PMID:20493745 PMID:21160487 PMID:21775177 PMID:22678952 PMID:22867051 PMID:22872100 PMID:23064044 PMID:23238081 PMID:23583054 PMID:23934111 PMID:25657822 PMID:25741868 PMID:26467025 PMID:27770071 PMID:28492532 PMID:29264392 PMID:31313283 PMID:31492455 PMID:31780880 More...
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NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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G |
Fhl1 |
four and a half LIM domains 1 |
|
ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928
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G |
Gpr101 |
G protein-coupled receptor 101 |
|
ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958
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G |
Hivep2 |
HIVEP zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Angelman syndrome-like |
ClinVar |
PMID:25741868 |
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NCBI chr 1:8,358,205...8,555,993
Ensembl chr 1:8,359,289...8,555,993
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G |
Htatsf1 |
HIV-1 Tat specific factor 1 |
|
ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:134,935,426...134,949,607
Ensembl chr X:134,935,426...134,949,607
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G |
Map7d3 |
MAP7 domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:134,619,227...134,647,525
Ensembl chr X:134,619,227...134,685,841
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G |
Rbmx |
RNA binding motif protein, X-linked |
|
ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743
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G |
Rs1 |
retinoschisin 1 |
|
ISO |
ClinVar Annotator: match by term: Angelman syndrome-like |
ClinVar |
PMID:15499549 PMID:16813600 PMID:18414213 PMID:19241098 PMID:20479760 PMID:21160487 PMID:21775177 PMID:22867051 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr X:33,962,440...33,992,203
Ensembl chr X:33,963,657...33,992,115
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G |
Slc9a6 |
solute carrier family 9 member A6 |
|
ISO ISS |
ClinVar Annotator: match by term: Angelman syndrome-like | ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type OMIM:300243 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:15319456 PMID:15358621 PMID:16019685 PMID:16199547 PMID:17576681 PMID:18342287 PMID:18414213 PMID:19471312 PMID:19619532 PMID:20395263 PMID:21465648 PMID:24123876 PMID:24123890 PMID:25044251 PMID:25167861 PMID:25640679 PMID:25741868 PMID:26467025 PMID:27256868 PMID:27854218 PMID:28492532 PMID:29275387 PMID:29588952 PMID:32581362 PMID:32776513 PMID:32860008 PMID:34797406 PMID:35032046 PMID:35334527 More...
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NCBI chr X:134,430,677...134,486,747
Ensembl chr X:134,420,756...134,485,375
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Vgll1 |
vestigial-like family member 1 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:134,979,657...134,996,007
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Zic3 |
Zic family member 3 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:136,123,662...136,129,627
Ensembl chr X:136,124,026...136,134,746
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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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Aldh1a3 |
aldehyde dehydrogenase 1 family, member A3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:119,982,272...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 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:120,222,835...120,267,411
Ensembl chr 1:120,222,745...120,267,282
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G |
Cers3 |
ceramide synthase 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:120,316,930...120,422,926
Ensembl chr 1:120,318,212...120,422,902
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Chsy1 |
chondroitin sulfate synthase 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 1:119,689,626...119,750,711
Ensembl chr 1:119,686,350...119,750,601
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Igf1r |
insulin-like growth factor 1 receptor |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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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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Lrrc28 |
leucine rich repeat containing 28 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:121,116,833...121,245,805
Ensembl chr 1:121,127,733...121,245,784
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Lrrk1 |
leucine-rich repeat kinase 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 1:119,844,360...119,972,885
Ensembl chr 1:119,845,146...119,979,734
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Lysmd4 |
LysM domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:120,839,180...120,845,148
Ensembl chr 1:120,839,282...120,845,135
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Mef2a |
myocyte enhancer factor 2a |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:120,847,874...120,982,488
Ensembl chr 1:120,850,080...120,981,948
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Pgpep1l |
pyroglutamyl-peptidase I-like |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:121,835,243...121,868,368
Ensembl chr 1:121,840,697...121,869,407
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Synm |
synemin |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:121,333,712...121,363,652
Ensembl chr 1:121,333,720...121,363,652
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Ttc23 |
tetratricopeptide repeat domain 23 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:121,245,996...121,329,500
Ensembl chr 1:121,248,084...121,329,494
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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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Acp6 |
acid phosphatase 6, lysophosphatidic |
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ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome |
ClinVar |
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NCBI chr 2:184,711,975...184,733,067
Ensembl chr 2:184,711,619...184,733,017
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Bcl9 |
BCL9, transcription coactivator |
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ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome |
ClinVar |
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NCBI chr 2:184,760,616...184,846,261
Ensembl chr 2:184,760,618...184,786,435
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Chd1l |
chromodomain helicase DNA binding protein 1-like |
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ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome |
ClinVar |
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NCBI chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595
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Fmo5 |
flavin containing dimethylaniline monoxygenase 5 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome |
ClinVar |
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NCBI chr 2:185,197,184...185,249,699
Ensembl chr 2:185,222,204...185,249,693
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Gja5 |
gap junction protein, alpha 5 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952
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Gja8 |
gap junction protein, alpha 8 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 1q21.1 Deletion | ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome |
CTD ClinVar |
PMID:25741868 PMID:26694549 PMID:28492532 PMID:28827829 PMID:29464339 |
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NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456
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Gpr89b |
G protein-coupled receptor 89B |
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ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome |
ClinVar |
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NCBI chr 2:184,408,136...184,445,560
Ensembl chr 2:184,401,438...184,445,584
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Prkab2 |
protein kinase AMP-activated non-catalytic subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome |
ClinVar |
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NCBI chr 2:185,257,218...185,272,846
Ensembl chr 2:185,257,213...185,269,872
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Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
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ISO |
ClinVar Annotator: match by term: CK syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICAL MALFORMATION |
OMIM ClinVar |
PMID:18414213 PMID:19377476 PMID:21129721 PMID:25741868 PMID:28492532 |
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NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
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G |
Meis2 |
Meis homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | ClinVar Annotator: match by term: MEIS2-related disorder CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:17576681 PMID:24678003 PMID:25712757 PMID:25741868 PMID:27225850 PMID:28492532 PMID:30055086 PMID:30291340 PMID:30735726 PMID:32345733 PMID:33526774 More...
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NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696
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Ankrd46 |
ankyrin repeat domain 46 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,647,202...67,668,180
Ensembl chr 7:67,647,204...67,668,132
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Atp6v1c1 |
ATPase H+ transporting V1 subunit C1 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,834,464...69,872,278
Ensembl chr 7:69,834,463...69,872,278
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Azin1 |
antizyme inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,654,773...69,681,578
Ensembl chr 7:69,654,663...69,681,578
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Baalc |
BAALC binder of MAP3K1 and KLF4 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,918,998...69,992,289
Ensembl chr 7:69,918,998...69,992,288
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Cox6c |
cytochrome c oxidase subunit 6C |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,129,265...67,142,001
Ensembl chr 7:67,111,024...67,141,963
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G |
Cthrc1 |
collagen triple helix repeat containing 1 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,122,474...70,132,756
Ensembl chr 7:70,122,474...70,132,756
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G |
Dcaf13 |
DDB1 and CUL4 associated factor 13 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,160,983...70,196,142
Ensembl chr 7:70,160,941...70,196,142
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G |
Dcstamp |
dendrocyte expressed seven transmembrane protein |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,807,455...70,822,067
Ensembl chr 7:70,807,581...70,822,078
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Dpys |
dihydropyrimidinase |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,822,648...70,929,255
Ensembl chr 7:70,835,789...70,929,231
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G |
Fbxo43 |
F-box protein 43 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,333,161...67,346,751
Ensembl chr 7:67,333,162...67,346,751
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G |
Fzd6 |
frizzled class receptor 6 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776
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Grhl2 |
grainyhead-like transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258
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Kcns2 |
potassium voltage-gated channel, modifier subfamily S, member 2 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 |
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NCBI chr 7:66,022,352...66,028,422
Ensembl chr 7:66,022,352...66,028,422
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G |
Klf10 |
KLF transcription factor 10 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,467,658...69,473,726
Ensembl chr 7:69,465,619...69,473,994
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Lrp12 |
LDL receptor related protein 12 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,941,068...71,012,409
Ensembl chr 7:70,941,068...71,012,441
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Mir875 |
microRNA 875 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 |
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NCBI chr 7:66,861,955...66,862,027
Ensembl chr 7:66,861,955...66,862,027
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Myo7a |
myosin VIIA |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
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G |
Ncald |
neurocalcin delta |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:68,532,671...68,964,740
Ensembl chr 7:68,534,421...68,964,496
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G |
Nipal2 |
NIPA-like domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:65,774,477...65,884,807
Ensembl chr 7:65,774,477...65,884,807
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G |
Odf1 |
outer dense fiber of sperm tails 1 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,377,427...69,389,662
Ensembl chr 7:69,380,116...69,389,664
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G |
Osr2 |
odd-skipped related transciption factor 2 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 |
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NCBI chr 7:66,487,841...66,495,003
Ensembl chr 7:66,487,839...66,495,224
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G |
Pabpc1 |
poly(A) binding protein, cytoplasmic 1 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,777,438...67,789,731
Ensembl chr 7:67,777,381...67,789,744
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G |
Polr2k |
RNA polymerase II, I and III subunit K |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,347,118...67,359,466
Ensembl chr 7:67,356,113...67,357,668
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G |
Pop1 |
POP1 homolog, ribonuclease P/MRP subunit |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141
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G |
Rgs22 |
regulator of G-protein signaling 22 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,188,531...67,308,805
Ensembl chr 7:67,188,519...67,308,875
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G |
Rims2 |
regulating synaptic membrane exocytosis 2 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,248,104...70,759,134
Ensembl chr 7:70,243,872...70,757,491
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G |
Rnf19a |
ring finger protein 19A, RBR E3 ubiquitin protein ligase |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,425,833...67,465,214
Ensembl chr 7:67,425,837...67,465,222
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G |
Rrm2b |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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G |
Slc25a32 |
solute carrier family 25 member 32 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,142,958...70,160,726
Ensembl chr 7:70,142,964...70,160,770
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G |
Snx31 |
sorting nexin 31 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,676,514...67,776,925
Ensembl chr 7:67,676,524...67,732,086
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G |
Spag1 |
sperm associated antigen 1 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368
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G |
Stk3 |
serine/threonine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 |
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NCBI chr 7:66,053,209...66,323,292
Ensembl chr 7:66,052,345...66,323,233
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G |
Ubr5 |
ubiquitin protein ligase E3 component n-recognin 5 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,115,216...69,224,843
Ensembl chr 7:69,116,761...69,224,903
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G |
Vps13b |
vacuolar protein sorting 13 homolog B |
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ISO ISS |
ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: Pepper syndrome | ClinVar Annotator: match by term: VPS13B-related condition OMIM:216550 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 PMID:15173253 PMID:15211651 PMID:15498460 PMID:15691367 PMID:15918062 PMID:16199547 PMID:16648375 PMID:16917849 PMID:17383910 PMID:17576681 PMID:17786118 PMID:17990063 PMID:18414213 PMID:18655112 PMID:19006247 PMID:19190672 PMID:19533689 PMID:19763152 PMID:20307669 PMID:20461111 PMID:20656880 PMID:20683995 PMID:20921020 PMID:21330571 PMID:21659346 PMID:21850686 PMID:21865173 PMID:22382802 PMID:22406018 PMID:22527104 PMID:22700954 PMID:22855652 PMID:23033978 PMID:23188044 PMID:23352163 PMID:23757202 PMID:24033266 PMID:24311531 PMID:24334746 PMID:24334764 PMID:25060287 PMID:25326635 PMID:25356970 PMID:25472526 PMID:25502226 PMID:25525159 PMID:25533962 PMID:25640679 PMID:25741868 PMID:26104215 PMID:26133662 PMID:26395554 PMID:26443248 PMID:26467025 PMID:26539891 PMID:26938784 PMID:27175599 PMID:27353947 PMID:27380831 PMID:27533158 PMID:27829003 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28559085 PMID:28631888 PMID:28832562 PMID:29149870 PMID:29431110 PMID:29453417 PMID:29634382 PMID:29706646 PMID:29758347 PMID:30138938 PMID:30290665 PMID:30602132 PMID:30792901 PMID:30843084 PMID:31444703 PMID:31580008 PMID:31736247 PMID:31943017 PMID:31965297 PMID:32170714 PMID:32384097 PMID:32483926 PMID:32505691 PMID:32581362 PMID:32860008 PMID:32919079 PMID:32959227 PMID:33023636 PMID:33025479 PMID:33217554 PMID:33994118 PMID:34006472 PMID:34353225 PMID:34425733 PMID:35052368 PMID:35690661 More...
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NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
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Ywhaz |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,941,353...67,963,651
Ensembl chr 7:67,940,017...67,963,668
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Zfp706 |
zinc finger protein 706 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:68,167,496...68,174,121
Ensembl chr 7:68,166,323...68,174,148
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Zfpm2 |
zinc finger protein, multitype 2 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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Mitf |
melanocyte inducing transcription factor |
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ISO |
ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness |
ClinVar OMIM |
PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27884168 PMID:27889061 PMID:28492532 PMID:30311386 PMID:34599368 More...
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NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
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Manf |
mesencephalic astrocyte-derived neurotrophic factor |
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ISO |
ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome |
OMIM ClinVar |
PMID:26077850 PMID:33500254 |
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NCBI chr 8:107,500,856...107,551,595
Ensembl chr 8:107,548,352...107,551,438
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Pcdh12 |
protocadherin 12 |
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ISO |
ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 |
OMIM ClinVar |
PMID:7774041 PMID:22822038 PMID:25741868 PMID:27164683 PMID:28492532 PMID:29556033 PMID:30178464 PMID:33527719 More...
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NCBI chr18:30,103,728...30,119,307
Ensembl chr18:30,103,728...30,119,307
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Rnf14 |
ring finger protein 14 |
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ISO |
ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 |
ClinVar |
PMID:7774041 PMID:22822038 PMID:25741868 PMID:27164683 PMID:28492532 PMID:29556033 PMID:30178464 PMID:33527719 More...
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NCBI chr18:30,131,627...30,155,686
Ensembl chr18:30,131,691...30,155,685
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Acadvl |
acyl-CoA dehydrogenase, very long chain |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
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Asgr1 |
asialoglycoprotein receptor 1 |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,775,727...54,779,642
Ensembl chr10:54,776,024...54,779,631
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Asgr2 |
asialoglycoprotein receptor 2 |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,821,407...54,834,624
Ensembl chr10:54,821,438...54,834,617
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Cldn7 |
claudin 7 |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,689,684...54,692,177
Ensembl chr10:54,689,987...54,692,171
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Ctdnep1 |
CTD nuclear envelope phosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,704,367...54,713,781
Ensembl chr10:54,704,148...54,713,781
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Dlg4 |
discs large MAGUK scaffold protein 4 |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
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Dvl2 |
dishevelled segment polarity protein 2 |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,723,356...54,732,823
Ensembl chr10:54,723,411...54,732,820
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Eif5a |
eukaryotic translation initiation factor 5A |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
OMIM ClinVar |
PMID:25741868 PMID:31690835 PMID:33547280 |
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NCBI chr10:54,640,104...54,644,845
Ensembl chr10:54,640,024...54,644,656
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Elp5 |
elongator acetyltransferase complex subunit 5 |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,692,526...54,704,255
Ensembl chr10:54,692,530...54,704,923
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Gabarap |
GABA type A receptor-associated protein |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,714,777...54,718,099
Ensembl chr10:54,714,198...54,717,765
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Gps2 |
G protein pathway suppressor 2 |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,637,360...54,640,542
Ensembl chr10:54,637,455...54,640,650
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Neurl4 |
neuralized E3 ubiquitin protein ligase 4 |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,624,923...54,637,262
Ensembl chr10:54,625,642...54,637,258
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Phf23 |
PHD finger protein 23 |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,718,663...54,722,784
Ensembl chr10:54,717,724...54,722,782
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Slc2a4 |
solute carrier family 2 member 4 |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
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Ybx2 |
Y box binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr10:54,659,719...54,665,371
Ensembl chr10:54,659,719...54,665,371
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Mycn |
MYCN proto-oncogene, bHLH transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brunner Winter syndrome | ClinVar Annotator: match by term: Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum | ClinVar Annotator: match by term: MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE | ClinVar Annotator: match by term: Microcephaly-oculo-digito-esophageal-duodenal syndrome |
CTD ClinVar |
PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 PMID:19852433 PMID:20301770 PMID:21224895 PMID:21532573 PMID:25741868 PMID:28492532 PMID:30573562 PMID:30655312 PMID:33442900 PMID:36474027 More...
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NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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Mycn |
MYCN proto-oncogene, bHLH transcription factor |
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ISO |
ClinVar Annotator: match by term: MYCN-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30573562 PMID:37710961 |
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NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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Atp1a2 |
ATPase Na+/K+ transporting subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies |
OMIM ClinVar |
PMID:15159495 PMID:15174025 PMID:17142831 PMID:18414213 PMID:18728015 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30523548 PMID:30690204 PMID:31608932 PMID:33126486 More...
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NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
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Ckap2l |
cytoskeleton associated protein 2-like |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Filippi syndrome |
OMIM CTD ClinVar |
PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:116,497,186...116,524,302
Ensembl chr 3:116,498,022...116,524,366
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Bmp4 |
bone morphogenetic protein 4 |
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ISO |
protein:decreased expression, altered localization:cerebral cortex: |
RGD |
PMID:22752548 |
RGD:9068443 |
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Mmp9 |
matrix metallopeptidase 9 |
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ISO |
protein:increased expression:cerebral cortex |
RGD |
PMID:22459050 |
RGD:8547829 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mtor |
mechanistic target of rapamycin kinase |
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ISO |
ClinVar Annotator: match by term: Focal cortical dysplasia type 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17360675 PMID:20190810 PMID:23636326 PMID:24631838 PMID:25741868 PMID:25799227 PMID:25851998 PMID:25878179 PMID:26018084 PMID:26542245 PMID:26619011 PMID:27159400 PMID:27482884 PMID:27513193 PMID:27753196 PMID:27830187 PMID:28475857 PMID:28492532 PMID:28892148 PMID:29281825 PMID:30569621 PMID:31441589 PMID:32581362 PMID:33077954 PMID:33833411 More...
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NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Tsc1 |
TSC complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia type 2 | ClinVar Annotator: match by term: Focal cortical dysplasia type II CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 PMID:9924605 PMID:10205261 PMID:10227394 PMID:10353610 PMID:10363127 PMID:10533067 PMID:10570911 PMID:10607950 PMID:11208653 PMID:11329144 PMID:12015165 PMID:12111193 PMID:12112044 PMID:12773163 PMID:12853839 PMID:14551205 PMID:14633685 PMID:15595939 PMID:15798777 PMID:16114042 PMID:16554133 PMID:16981987 PMID:17304050 PMID:17576681 PMID:18032745 PMID:18397877 PMID:18414213 PMID:18772611 PMID:18830229 PMID:19139070 PMID:19175396 PMID:19747374 PMID:19918125 PMID:20165957 PMID:21309039 PMID:21510812 PMID:21624971 PMID:21811971 PMID:22161988 PMID:22558107 PMID:22703879 PMID:22995991 PMID:23254740 PMID:23389244 PMID:23514105 PMID:23857276 PMID:24033266 PMID:24633152 PMID:24728327 PMID:25077650 PMID:25498131 PMID:25722345 PMID:25741868 PMID:25900779 PMID:26332594 PMID:26467025 PMID:26540169 PMID:26580448 PMID:27153395 PMID:27425891 PMID:28215400 PMID:28250423 PMID:28492532 PMID:29261847 PMID:29684080 PMID:29706646 PMID:30076350 PMID:30548481 PMID:31054281 PMID:31664448 PMID:31856217 PMID:32368696 PMID:32917966 PMID:34799483 More...
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NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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Tsc2 |
TSC complex subunit 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Focal cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia type 2 | ClinVar Annotator: match by term: Focal cortical dysplasia type II |
CTD ClinVar OMIM |
PMID:8824881 PMID:9463313 PMID:9536098 PMID:9829910 PMID:10205261 PMID:10533066 PMID:10533067 PMID:10732801 PMID:10735580 PMID:10905251 PMID:10942116 PMID:11068191 PMID:11112665 PMID:11403047 PMID:11520734 PMID:11741832 PMID:12015165 PMID:12111193 PMID:12235314 PMID:15483652 PMID:15798777 PMID:16114042 PMID:16199547 PMID:16464865 PMID:16981987 PMID:17120248 PMID:17304050 PMID:17536269 PMID:17576681 PMID:18772611 PMID:18792920 PMID:18854862 PMID:19254590 PMID:19369101 PMID:19747374 PMID:20165957 PMID:20301399 PMID:21309039 PMID:21332470 PMID:21510812 PMID:21520333 PMID:22495309 PMID:22552000 PMID:22703879 PMID:22867869 PMID:22903760 PMID:23254740 PMID:23389244 PMID:23514105 PMID:23955302 PMID:24033266 PMID:24412076 PMID:24728327 PMID:25039834 PMID:25281918 PMID:25363768 PMID:25432535 PMID:25525159 PMID:25724664 PMID:25741868 PMID:26467025 PMID:26540169 PMID:26703369 PMID:26994145 PMID:27174333 PMID:27406250 PMID:27600092 PMID:27859028 PMID:27930734 PMID:28065512 PMID:28149746 PMID:28178598 PMID:28215400 PMID:28250423 PMID:28407358 PMID:28492532 PMID:28518168 PMID:29167182 PMID:29196670 PMID:29308833 PMID:29476190 PMID:29500070 PMID:29655203 PMID:29659200 PMID:29801666 PMID:29933521 PMID:30036593 PMID:30093976 PMID:30255984 PMID:30583724 PMID:30763456 PMID:30787465 PMID:30986793 PMID:31005478 PMID:31018109 PMID:31291687 PMID:31525612 PMID:31623367 PMID:32005694 PMID:32211034 PMID:32461654 PMID:32461669 PMID:32502382 PMID:32917966 PMID:33084842 PMID:33391346 PMID:33574475 PMID:34403804 PMID:34849272 PMID:35231114 PMID:35441217 PMID:35918040 PMID:36030538 PMID:36117189 PMID:36229297 PMID:36232477 More...
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NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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