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: | microcephaly |
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Accession: | DOID:10907
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browse the term
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Definition: | A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants. (DO) |
Synonyms: | exact_synonym: | Congenital microcephaly; Microcephalies; Severe Congenital Microcephalies; Severe Congenital Microcephaly; microcephalus; microencephaly |
| narrow_synonym: | Classical primary microcephaly; PRIMARY MICROCEPHALY, RECESSIVE; PROGRESSIVE MICROCEPHALY |
| primary_id: | MESH:D008831 |
| xref: | GARD:3603; GARD:7038; ICD10CM:Q02; ICD9CM:742.1; NCI:C85874 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Aaas |
aladin WD repeat nucleoporin |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 7:133,464,315...133,483,961
Ensembl chr 7:133,464,315...133,483,961
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Abl1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:33223528 |
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NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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Acadsb |
acyl-CoA dehydrogenase, short/branched chain |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379
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Ace |
angiotensin I converting enzyme |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Actg1 |
actin, gamma 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
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Adar |
adenosine deaminase, RNA-specific |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
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Adarb1 |
adenosine deaminase, RNA-specific, B1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852
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Adat3 |
adenosine deaminase, tRNA-specific 3 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 7:9,109,070...9,113,673
Ensembl chr 7:9,101,187...9,115,340
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Add3 |
adducin 3 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 1:252,147,341...252,255,126
Ensembl chr 1:252,147,386...252,255,124
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Adgrl2 |
adhesion G protein-coupled receptor L2 |
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ISO |
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RGD |
PMID:30340542 |
RGD:13838661 |
NCBI chr 2:237,696,055...238,327,141
Ensembl chr 2:237,696,056...238,327,141
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Adnp |
activity-dependent neuroprotector homeobox |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312
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Agt |
angiotensinogen |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Alg13 |
ALG13, UDP-N-acetylglucosaminyltransferase subunit |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:23033978 PMID:23934111 PMID:24781210 PMID:24896178 PMID:25732998 PMID:25741868 PMID:26138355 PMID:26482601 PMID:28492532 PMID:28778787 PMID:28887793 PMID:28940310 PMID:32238909 PMID:32681751 PMID:33734437 More...
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NCBI chr X:107,885,039...107,906,264
Ensembl chr X:107,885,064...107,893,002
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Aloxe3 |
arachidonate lipoxygenase 3 |
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ISO |
ClinVar Annotator: match by term: Progressive microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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Alpl |
alkaline phosphatase, biomineralization associated |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:9452105 PMID:11760847 PMID:12162492 PMID:18455459 PMID:18769927 PMID:18821074 PMID:25023282 PMID:25741868 PMID:28492532 PMID:30293248 PMID:31857675 PMID:32160374 PMID:33452237 More...
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NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
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Als2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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Ampd2 |
adenosine monophosphate deaminase 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271
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Ank1 |
ankyrin 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr16:68,876,294...69,054,812
Ensembl chr16:68,877,504...69,054,759
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Ankle2 |
ankyrin repeat and LEM domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:23806086 PMID:24088041 PMID:25259927 |
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NCBI chr12:46,417,761...46,451,304
Ensembl chr12:46,417,759...46,500,514
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Ap3b2 |
adaptor related protein complex 3 subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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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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Arcn1 |
archain 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
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Arfgef2 |
ADP ribosylation factor guanine nucleotide exchange factor 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:155,547,504...155,633,652
Ensembl chr 3:155,547,538...155,630,856
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Arhgef2 |
Rho/Rac guanine nucleotide exchange factor 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 2:174,061,126...174,118,355
Ensembl chr 2:174,062,976...174,118,355
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Arid1a |
AT-rich interaction domain 1A |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
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Arid1b |
AT-rich interaction domain 1B |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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Arid2 |
AT-rich interaction domain 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24728327 PMID:25741868 PMID:28492532 |
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NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512
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Arvcf |
ARVCF, delta catenin family member |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr11:82,588,137...82,645,805
Ensembl chr11:82,587,881...82,645,805
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Asf1a |
anti-silencing function 1A histone chaperone |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr20:32,893,962...32,908,808
Ensembl chr20:32,893,573...32,908,808
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Aspm |
assembly factor for spindle microtubules |
susceptibility treatment |
ISO ISS |
ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 DNA:mutations:multiple: |
ClinVar MouseDO RGD |
PMID:19028728 PMID:20301772 PMID:20679666 PMID:22823409 PMID:25741868 PMID:26539891 PMID:28492532 PMID:16141009 PMID:20823249 PMID:20823249 PMID:19808985 More...
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RGD:1599300, RGD:13439744, RGD:13439744, RGD:13439741 |
NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
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Asxl1 |
ASXL transcriptional regulator 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
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Atm |
ATM serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:19781682 PMID:25741868 PMID:28492532 PMID:30287823 PMID:31871109 PMID:32068069 PMID:32566746 More...
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NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Atpaf2 |
ATP synthase mitochondrial F1 complex assembly factor 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr10:45,205,658...45,221,891
Ensembl chr10:45,197,441...45,221,026
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Atr |
ATR serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
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Atrx |
ATRX, chromatin remodeler |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:7697714 PMID:24690944 PMID:25741868 PMID:28371217 PMID:28492532 |
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NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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B3galnt2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
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Bcap31 |
B-cell receptor-associated protein 31 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506
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Bcl11b |
BCL11 transcription factor B |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 6:126,834,531...126,927,720
Ensembl chr 6:126,834,531...126,928,224
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Bcs1l |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:22277967 PMID:25741868 PMID:28492532 PMID:31316545 PMID:32581362 |
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NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
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Blm |
BLM RecQ like helicase |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32566746 |
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NCBI chr 1:134,409,832...134,496,073
Ensembl chr 1:134,409,857...134,484,312
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Bptf |
bromodomain PHD finger transcription factor |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr10:91,980,279...92,082,731
Ensembl chr10:91,982,758...92,082,769
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Brd4 |
bromodomain containing 4 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
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NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
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Bub1b |
BUB1 mitotic checkpoint serine/threonine kinase B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly |
CTD ClinVar |
PMID:15475955 PMID:25741868 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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C16h4orf47 |
similar to human chromosome 4 open reading frame 47 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33473208 |
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NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625
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Calhm4 |
calcium homeostasis modulator family member 4 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr20:25,990,164...25,993,173
Ensembl chr20:25,990,462...25,993,173
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Calhm5 |
calcium homeostasis modulator family member 5 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr20:26,066,270...26,072,348
Ensembl chr20:26,066,242...26,072,272
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Calhm6 |
calcium homeostasis modulator family member 6 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr20:26,095,591...26,097,336
Ensembl chr20:26,095,592...26,097,278
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Camk2b |
calcium/calmodulin-dependent protein kinase II beta |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29100089 PMID:32581362 PMID:32875707 |
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NCBI chr14:80,845,206...80,934,172
Ensembl chr14:80,845,238...80,933,994
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Cars2 |
cysteinyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr16:77,945,468...77,987,163
Ensembl chr16:77,950,008...77,987,772
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Cask |
calcium/calmodulin dependent serine protein kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19165920 |
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NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694
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Cbl |
Cbl proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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Ccdc88a |
coiled coil domain containing 88A |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr14:103,104,091...103,256,112
Ensembl chr14:103,103,513...103,252,368
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Cdc45 |
cell division cycle 45 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
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Cdc6 |
cell division cycle 6 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr10:83,864,189...83,878,011
Ensembl chr10:83,864,638...83,878,011
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Cdk19 |
cyclin-dependent kinase 19 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr20:43,770,409...43,910,629
Ensembl chr20:43,770,409...43,910,628
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Cdk5rap2 |
CDK5 regulatory subunit associated protein 2 |
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ISO ISS |
DNA:mutations:splice junction:c.383+1G>C,c.4005-9A>G(human) ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 |
ClinVar MouseDO RGD |
PMID:18414213 PMID:20301772 PMID:25741868 PMID:28492532 PMID:32581362 PMID:26436113 More...
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RGD:13450906 |
NCBI chr 5:83,792,282...83,961,129
Ensembl chr 5:83,792,284...83,960,782
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Cdon |
cell adhesion associated, oncogene regulated |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033
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Cenpf |
centromere protein F |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr13:101,184,127...101,229,714
Ensembl chr13:101,184,127...101,229,669
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Cenpj |
centromere protein J |
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ISO |
ClinVar Annotator: match by term: Primary Microcephaly, Recessive |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr15:30,626,946...30,690,384
Ensembl chr15:30,627,224...30,686,791
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Cep152 |
centrosomal protein 152 |
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ISO |
ClinVar Annotator: match by term: Primary Microcephaly, Recessive |
ClinVar |
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NCBI chr 3:112,803,185...112,878,298
Ensembl chr 3:112,810,425...112,878,458
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Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
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Cep63 |
centrosomal protein 63 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21983783 |
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NCBI chr 8:103,162,639...103,214,177
Ensembl chr 8:103,162,700...103,214,177
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Cep85l |
centrosomal protein 85-like |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516
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Cert1 |
ceramide transporter 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 2:27,882,546...27,987,090
Ensembl chr 2:27,882,555...27,987,074
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Chd2 |
chromodomain helicase DNA binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
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NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502
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Chd7 |
chromodomain helicase DNA binding protein 7 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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G |
Chka |
choline kinase alpha |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:35202461 |
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NCBI chr 1:201,076,804...201,125,517
Ensembl chr 1:201,076,860...201,125,516
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G |
Cit |
citron rho-interacting serine/threonine kinase |
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IAGP |
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RGD |
PMID:10219263 |
RGD:13204836 |
NCBI chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860
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G |
CitfhJjlo |
citron rho-interacting serine/threonine kinase; flat head mutant, Jjlo |
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IAGP |
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RGD |
PMID:10219263 |
RGD:13204836 |
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G |
Clcn4 |
chloride voltage-gated channel 4 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:23,729,194...23,795,391
Ensembl chr X:23,729,338...23,793,238
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G |
Col4a1 |
collagen type IV alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
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 |
Col7a1 |
collagen type VII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:12787275 PMID:22266148 PMID:25741868 PMID:28492532 PMID:28830826 PMID:32860008 PMID:35979658 More...
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NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
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G |
Copb2 |
COPI coat complex subunit beta 2 |
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ISS |
OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 |
MouseDO |
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NCBI chr 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197
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G |
Cpt2 |
carnitine palmitoyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
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G |
Cspp1 |
centrosome and spindle pole associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:9,077,161...9,192,402
Ensembl chr 5:9,077,161...9,193,377
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G |
Cstb |
cystatin B |
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ISO |
ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Progressive microcephaly |
ClinVar |
PMID:8596935 PMID:9054946 PMID:9342192 PMID:9360639 PMID:15329070 PMID:15483648 PMID:16155205 PMID:17003839 PMID:17920138 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22936898 PMID:23205931 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28492532 PMID:29358611 PMID:32581362 More...
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NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
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G |
Ctbp1 |
C-terminal binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr14:77,455,580...77,482,821
Ensembl chr14:77,455,696...77,482,821
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G |
Dcbld1 |
discoidin, CUB and LCCL domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr20:31,618,556...31,711,697
Ensembl chr20:31,618,542...31,711,692
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G |
Ddx11 |
DEAD/H-box helicase 11 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 9:105,833,234...105,862,844
Ensembl chr 9:105,833,504...105,862,550
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G |
Dhcr7 |
7-dehydrocholesterol reductase |
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ISO |
ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:9634533 PMID:9653161 PMID:10602371 PMID:10677299 PMID:10814720 PMID:10995508 PMID:11078571 PMID:11175299 PMID:15521979 PMID:15670717 PMID:15805162 PMID:15952211 PMID:16044199 PMID:16207203 PMID:16497572 PMID:16983147 PMID:17441222 PMID:17965227 PMID:18006960 PMID:19390132 PMID:20301322 PMID:20556518 PMID:21696385 PMID:23042628 PMID:23293579 PMID:24033266 PMID:25040602 PMID:25741868 PMID:27415407 PMID:28166604 PMID:28250423 PMID:28492532 PMID:33223529 More...
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NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
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G |
Diaph1 |
diaphanous-related formin 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24781755 PMID:25558065 PMID:25741868 PMID:28492532 |
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NCBI chr18:29,669,659...29,769,044
Ensembl chr18:29,669,659...29,769,172
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G |
Dnm1l |
dynamin 1-like |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17460227 |
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NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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G |
Dnmt3a |
DNA methyltransferase 3 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30478443 |
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NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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G |
Dock6 |
dedicator of cytokinesis 6 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:20,342,089...20,394,660
Ensembl chr 8:20,342,089...20,394,552
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G |
Donson |
DNA replication fork stabilization factor DONSON |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28191891 |
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NCBI chr11:30,911,616...30,933,150
Ensembl chr11:30,923,239...30,932,889
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G |
Dse |
dermatan sulfate epimerase |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr20:26,118,194...26,196,889
Ensembl chr20:26,118,196...26,196,992
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G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23603762 |
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NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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G |
Dyrk1a |
dual specificity tyrosine phosphorylation regulated kinase 1A |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25167861 PMID:25326635 PMID:25641759 PMID:25741868 PMID:25944381 PMID:28492532 PMID:32581362 More...
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NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
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G |
Eftud2 |
elongation factor Tu GTP binding domain containing 2 |
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ISO |
associated with mandibulofacial dysostosis, Guion-Almeida type;DNA:mutations:cds:multiple |
RGD |
PMID:24470203 |
RGD:155791662 |
NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079
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G |
Eif2b1 |
eukaryotic translation initiation factor 2B subunit alpha |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr12:32,025,593...32,033,848
Ensembl chr12:32,025,557...32,046,601
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G |
Elac2 |
elaC ribonuclease Z 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:49,632,308...49,655,614
Ensembl chr10:49,632,378...49,655,614
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G |
Emc1 |
ER membrane protein complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:151,608,557...151,633,888
Ensembl chr 5:151,608,568...151,633,888
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G |
Ep300 |
E1A binding protein p300 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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G |
Epg5 |
ectopic P-granules 5 autophagy tethering factor |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:71,403,990...71,502,079
Ensembl chr18:71,404,010...71,501,502
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G |
Ercc4 |
ERCC excision repair 4, endonuclease catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369
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G |
Ercc6 |
ERCC excision repair 6, chromatin remodeling factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10739753 PMID:18628313 |
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NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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G |
Ext1 |
exostosin glycosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:10480354 PMID:11391482 PMID:24728327 PMID:25741868 PMID:28492532 |
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NCBI chr 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357
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G |
F8 |
coagulation factor VIII |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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G |
Fam111a |
FAM111 trypsin like peptidase A |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:209,640,865...209,656,551
Ensembl chr 1:209,640,953...209,656,547
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G |
Fam184a |
family with sequence similarity 184, member A |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr20:32,934,424...33,056,626
Ensembl chr20:32,934,636...33,056,652
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G |
Fanca |
FA complementation group A |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:26689913 PMID:28202063 PMID:28492532 PMID:30032139 |
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NCBI chr19:51,304,021...51,362,586
Ensembl chr19:51,304,021...51,362,527
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G |
Fance |
FA complementation group E |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr20:6,369,416...6,386,631
Ensembl chr20:6,375,573...6,386,631
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G |
Fanci |
FA complementation group I |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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G |
Fat4 |
FAT atypical cadherin 4 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:121,928,188...122,056,711
Ensembl chr 2:121,927,942...122,056,707
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G |
Fcna |
ficolin A |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 3:8,445,904...8,449,128
Ensembl chr 3:8,445,907...8,449,105
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G |
Fgf8 |
fibroblast growth factor 8 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
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G |
Fgfrl1 |
fibroblast growth factor receptor-like 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928
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G |
Fh |
fumarate hydratase |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30548481 |
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NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Foxg1 |
forkhead box G1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital microcephaly |
CTD ClinVar |
PMID:18627055 PMID:25741868 |
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NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607
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G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
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G |
Frem1 |
Fras1 related extracellular matrix 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 5:97,321,275...97,469,523
Ensembl chr 5:97,322,538...97,469,543
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G |
Frem2 |
FRAS1 related extracellular matrix 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
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G |
Frmd4a |
FERM domain containing 4A |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr17:73,667,787...74,258,487
Ensembl chr17:73,667,789...74,258,687
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G |
Gata4 |
GATA binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:18672102 PMID:19302747 PMID:19678963 PMID:21110066 PMID:21519287 PMID:24033266 PMID:25741868 PMID:26490186 PMID:26997702 PMID:28492532 PMID:32992319 More...
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NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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G |
Gatad1 |
GATA zinc finger domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:30,507,530...30,519,109
Ensembl chr 4:30,507,538...30,519,107
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G |
Gemin4 |
gem (nuclear organelle) associated protein 4 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25558065 PMID:25741868 PMID:27878435 |
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NCBI chr10:61,062,420...61,073,529
Ensembl chr10:61,066,425...61,073,431 Ensembl chr10:61,066,425...61,073,431
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G |
Gli2 |
GLI family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
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G |
Gnao1 |
G protein subunit alpha o1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:23993195 PMID:25741868 PMID:25966631 PMID:28202424 PMID:28492532 PMID:28628939 PMID:28747448 More...
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NCBI chr19:11,034,874...11,192,502
Ensembl chr19:11,035,956...11,192,493
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G |
Gnb1 |
G protein subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:27108799 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 More...
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NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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G |
Gopc |
golgi associated PDZ and coiled-coil motif containing |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr20:31,727,617...31,776,928
Ensembl chr20:31,727,620...31,776,903
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G |
Gprc6a |
G protein-coupled receptor, class C, group 6, member A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr20:30,922,106...30,943,412
Ensembl chr20:30,922,106...30,943,412
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G |
Grin2a |
glutamate ionotropic receptor NMDA type subunit 2A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637
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G |
Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
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G |
Grip1 |
glutamate receptor interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
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G |
H4c3 |
H4 clustered histone 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28920961 |
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G |
Hdac4 |
histone deacetylase 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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G |
Hes7 |
hes family bHLH transcription factor 7 |
|
ISO |
ClinVar Annotator: match by term: Progressive microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr10:53,824,124...53,828,350
Ensembl chr10:53,825,574...53,828,097
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G |
Hprt1 |
hypoxanthine phosphoribosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:2323782 PMID:23975452 PMID:25741868 PMID:28492532 |
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NCBI chr X:132,736,175...132,768,149
Ensembl chr X:132,736,096...132,768,154
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G |
Hspg2 |
heparan sulfate proteoglycan 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594
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G |
Iba57 |
iron-sulfur cluster assembly factor IBA57 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr10:43,942,017...43,950,807
Ensembl chr10:43,942,017...43,950,807
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G |
Ift122 |
intraflagellar transport 122 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
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G |
Ift140 |
intraflagellar transport 140 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
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G |
Ift74 |
intraflagellar transport 74 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833
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G |
Igf1 |
insulin-like growth factor 1 |
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ISO |
DNA:nonsense mutation,haploinsufficiency :cds: ClinVar Annotator: match by term: Microcephaly |
ClinVar RGD |
PMID:25741868 PMID:20668042 |
RGD:8548823 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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G |
Iqsec2 |
IQ motif and Sec7 domain ArfGEF 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr X:21,254,799...21,337,179
Ensembl chr X:21,254,914...21,336,584
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G |
Itgb6 |
integrin subunit beta 6 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671
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G |
Jarid2 |
jumonji and AT-rich interaction domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr17:19,777,487...19,957,696
Ensembl chr17:19,777,266...19,955,690
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G |
Kif11 |
kinesin family member 11 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 1:235,124,371...235,176,760
Ensembl chr 1:235,124,316...235,176,766
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G |
Kif1c |
kinesin family member 1C |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545
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G |
Kif20b |
kinesin family member 20B |
|
ISS |
OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 |
MouseDO |
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NCBI chr 1:232,428,293...232,483,798
Ensembl chr 1:232,428,371...232,483,787
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G |
Kif23 |
kinesin family member 23 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:26539891 |
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NCBI chr 8:62,397,908...62,425,162
Ensembl chr 8:62,397,948...62,425,072
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G |
Kif26b |
kinesin family member 26B |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
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NCBI chr13:90,282,821...90,689,058
Ensembl chr13:90,283,404...90,682,811
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G |
Kif2a |
kinesin family member 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly |
CTD ClinVar |
PMID:23603762 PMID:25741868 |
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NCBI chr 2:38,367,998...38,431,237
Ensembl chr 2:38,367,998...38,431,508
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G |
Kif5c |
kinesin family member 5C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23603762 |
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NCBI chr 3:34,032,082...34,185,597
Ensembl chr 3:34,032,105...34,182,413
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G |
Kifbp |
kinesin family binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15883926 |
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NCBI chr20:30,512,899...30,532,504
Ensembl chr20:30,512,901...30,532,476
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G |
Kmt2a |
lysine methyltransferase 2A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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G |
Kmt2c |
lysine methyltransferase 2C |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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G |
Kmt2d |
lysine methyltransferase 2D |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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G |
Knl1 |
kinetochore scaffold 1 |
|
ISO |
ClinVar Annotator: match by term: Primary Microcephaly, Recessive |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr 3:106,029,627...106,091,915
Ensembl chr 3:106,029,661...106,091,915
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G |
Kpna5 |
karyopherin subunit alpha 5 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr20:30,822,925...30,888,080
Ensembl chr20:30,822,935...30,888,078
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G |
Lars1 |
leucyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:34,201,555...34,256,003
Ensembl chr18:34,201,549...34,255,931
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G |
Ldlrad2 |
low density lipoprotein receptor class A domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140
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G |
Lemd2 |
LEM domain nuclear envelope protein 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:30905398 |
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NCBI chr20:5,282,397...5,296,621
Ensembl chr20:5,282,397...5,296,626
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G |
Lins1 |
lines homolog 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 1:120,267,586...120,295,013
Ensembl chr 1:120,267,693...120,293,607
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G |
Lmnb1 |
lamin B1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr18:50,175,861...50,215,210
Ensembl chr18:50,175,874...50,214,502
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G |
Lrp5 |
LDL receptor related protein 5 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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G |
Mak16 |
MAK16 homolog |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr16:60,972,699...60,981,250
Ensembl chr16:60,972,697...60,983,243
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G |
Man1a1 |
mannosidase, alpha, class 1A, member 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr20:33,202,509...33,385,747
Ensembl chr20:33,202,517...33,385,824
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G |
Masp1 |
MBL associated serine protease 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974
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G |
Mbd5 |
methyl-CpG binding domain protein 5 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:33,588,854...33,738,730
Ensembl chr 3:33,333,554...33,730,156
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G |
Mcm4 |
minichromosome maintenance complex component 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:85,258,443...85,272,144
Ensembl chr11:85,258,443...85,272,144
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G |
Mcm9 |
minichromosome maintenance 9 homologous recombination repair factor |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr20:32,818,219...32,929,577
Ensembl chr20:32,844,951...32,929,600
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G |
Mcph1 |
microcephalin 1 |
no_association |
ISO ISS |
DNA:nonsense mutation:cds:p.S25X (human) ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 DNA:SNP: :c.940G>C (g.37995G>C) (human) |
ClinVar MouseDO RGD |
PMID:25741868 PMID:12046007 PMID:23683352 PMID:19267414 |
RGD:9589021, RGD:13204745, RGD:13204744 |
NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122
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G |
Mecp2 |
methyl CpG binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 PMID:11885030 PMID:12325019 PMID:12843318 PMID:14598336 PMID:20301670 PMID:21831886 PMID:24328834 PMID:25473036 PMID:25741868 PMID:26350204 PMID:26418480 PMID:27465203 PMID:27781091 PMID:27929079 PMID:28492532 PMID:32581362 More...
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NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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G |
Med17 |
mediator complex subunit 17 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:12,101,594...12,120,592
Ensembl chr 8:12,101,594...12,120,592
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G |
Mfn2 |
mitofusin 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17215403 PMID:17296794 PMID:19889647 PMID:20418531 PMID:21285398 PMID:21508331 PMID:22442078 PMID:24126688 PMID:24604904 PMID:24862862 PMID:24863639 PMID:25025039 PMID:25741868 PMID:26085578 PMID:26382835 PMID:26467025 PMID:26686600 PMID:26801520 PMID:27549087 PMID:27863451 PMID:28492532 PMID:31188717 More...
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NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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G |
Mfsd2a |
MFSD2 lysolipid transporter A, lysophospholipid |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly |
CTD ClinVar |
PMID:25741868 PMID:26005865 PMID:26005868 |
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NCBI chr 5:135,225,801...135,240,744
Ensembl chr 5:135,225,816...135,240,690
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G |
Mipep |
mitochondrial intermediate peptidase |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr15:34,926,198...35,051,722
Ensembl chr15:34,926,207...35,051,727
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G |
Mks1 |
MKS transition zone complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24608809 PMID:25741868 PMID:28492532 PMID:30076350 PMID:33584783 |
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NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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G |
Mtfmt |
mitochondrial methionyl-tRNA formyltransferase |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841
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G |
Nacc1 |
nucleus accumbens associated 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528
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G |
Nat8l |
N-acetyltransferase 8-like |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr14:76,756,077...76,762,712
Ensembl chr14:76,756,077...76,763,411
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G |
Nepro |
nucleolus and neural progenitor protein |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr11:55,958,265...55,970,432
Ensembl chr11:55,958,267...55,970,432
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G |
Nf1 |
neurofibromin 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30308447 |
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NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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G |
Nsd1 |
nuclear receptor binding SET domain protein 1 |
|
ISO |
associated with Growth Disorders;DNA:duplications:multiple (human) ClinVar Annotator: match by term: Microcephaly |
ClinVar RGD |
PMID:25741868 PMID:23599694 |
RGD:9590157 |
NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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G |
Nsd2 |
nuclear receptor binding SET domain protein 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr14:76,833,194...76,911,304
Ensembl chr14:76,835,637...76,913,641
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G |
Nsrp1 |
nuclear speckle splicing regulatory protein 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:34385670 |
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NCBI chr10:61,880,807...61,914,471
Ensembl chr10:61,880,825...61,914,471
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G |
Nt5c2 |
5'-nucleotidase, cytosolic II |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
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G |
Nup188 |
nucleoporin 188 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 3:13,559,917...13,616,313
Ensembl chr 3:13,559,990...13,616,307
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G |
Nup214 |
nucleoporin 214 |
|
ISO |
ClinVar Annotator: match by term: Progressive microcephaly |
ClinVar |
PMID:31178128 |
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NCBI chr 3:15,255,111...15,340,568
Ensembl chr 3:15,255,119...15,340,568
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G |
Nus1 |
NUS1 dehydrodolichyl diphosphate synthase subunit |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 PMID:25741868 |
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NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561
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G |
Orc1 |
origin recognition complex, subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21358633 |
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NCBI chr 5:123,324,273...123,348,375
Ensembl chr 5:123,324,315...123,348,375
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G |
Otx2 |
orthodenticle homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr15:21,942,233...21,953,034
Ensembl chr15:21,943,191...21,953,416
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G |
Pak3 |
p21 (RAC1) activated kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
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NCBI chr X:107,116,308...107,374,342
Ensembl chr X:107,260,898...107,368,314
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G |
Pclo |
piccolo (presynaptic cytomatrix protein) |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 4:19,691,439...20,050,015
Ensembl chr 4:19,695,315...20,049,885
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G |
Pcnt |
pericentrin |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
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G |
Pdzd4 |
PDZ domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
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NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826
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G |
Pex1 |
peroxisomal biogenesis factor 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
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G |
Pex16 |
peroxisomal biogenesis factor 16 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207
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G |
Pex5 |
peroxisomal biogenesis factor 5 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32901917 PMID:33584783 PMID:35346031 |
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NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
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G |
Plekhg2 |
pleckstrin homology and RhoGEF domain containing G2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 1:83,651,856...83,666,046
Ensembl chr 1:83,647,748...83,665,063
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G |
Plk4 |
polo-like kinase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly |
CTD ClinVar |
PMID:25344692 PMID:25741868 |
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NCBI chr 2:123,802,512...123,820,942
Ensembl chr 2:123,802,512...123,820,942
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G |
Pln |
phospholamban |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr20:32,629,537...32,639,559
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G |
Pnkp |
polynucleotide kinase 3'-phosphatase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20118933 |
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NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
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G |
Poc1a |
POC1 centriolar protein A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 8:106,922,058...106,991,678
Ensembl chr 8:106,922,978...106,991,089
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Ppil1 |
peptidylprolyl isomerase like 1 |
|
ISS |
|
MouseDO |
|
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NCBI chr20:7,302,292...7,322,349
Ensembl chr20:7,302,621...7,322,354
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G |
Ppp2r1a |
protein phosphatase 2 scaffold subunit A alpha |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:26168268 PMID:30755392 PMID:33106617 |
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NCBI chr 1:60,540,223...60,559,467
Ensembl chr 1:60,540,194...60,560,129
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G |
Pqbp1 |
polyglutamine binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14634649 PMID:15024694 PMID:16740914 |
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NCBI chr X:14,603,516...14,608,091
Ensembl chr X:14,603,539...14,608,087
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G |
Prdm16 |
PR/SET domain 16 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
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G |
Prkdc |
protein kinase, DNA-activated, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952
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G |
Psat1 |
phosphoserine aminotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32077105 |
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NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682
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G |
Ptdss1 |
phosphatidylserine synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:63,845,017...63,906,791
Ensembl chr 7:63,844,268...63,906,791
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|
G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:11992261 PMID:12717436 PMID:14644997 PMID:15539800 PMID:15723289 PMID:15928039 PMID:15987685 PMID:16263833 PMID:16358218 PMID:16377799 PMID:17020470 PMID:17339163 PMID:17361219 PMID:18372317 PMID:18470943 PMID:18562489 PMID:19020799 PMID:19737548 PMID:19795160 PMID:20308328 PMID:21706501 PMID:21901340 PMID:22315187 PMID:22488759 PMID:23584145 PMID:24033266 PMID:24628801 PMID:25585602 PMID:25595571 PMID:25741868 PMID:26467025 PMID:26918529 PMID:28363362 PMID:28492532 PMID:29907801 PMID:30311386 PMID:30410095 PMID:30417923 PMID:31134136 PMID:31219622 PMID:31560489 PMID:32164556 PMID:32581362 More...
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NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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G |
Pycr1 |
pyrroline-5-carboxylate reductase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:21739576 PMID:24913064 PMID:25741868 PMID:28492532 |
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NCBI chr10:105,917,732...105,922,658
Ensembl chr10:105,917,680...105,922,549
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G |
Pycr2 |
pyrroline-5-carboxylate reductase 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr13:92,626,462...92,630,256
Ensembl chr13:92,626,471...92,634,184
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G |
Qars1 |
glutaminyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739
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|
G |
Rab3gap2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
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G |
Rad51c |
RAD51 paralog C |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32566746 |
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NCBI chr10:72,205,032...72,231,643
Ensembl chr10:72,205,032...72,231,248
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G |
Rag1 |
recombination activating 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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G |
Rbbp8 |
RB binding protein 8, endonuclease |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846
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G |
Rbm28 |
RNA binding motif protein 28 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:57,722,223...57,761,935
Ensembl chr 4:57,722,223...57,761,653
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G |
Ret |
ret proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30217742 PMID:32164334 |
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NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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|
G |
Rfx6 |
regulatory factor X, 6 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
|
NCBI chr20:31,020,221...31,073,266
Ensembl chr20:31,019,829...31,073,147
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G |
Rfx7 |
regulatory factor X, 7 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:73,254,051...73,339,209
Ensembl chr 8:73,254,051...73,339,209
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G |
Rnf17 |
ring finger protein 17 |
|
ISO |
ClinVar Annotator: match by term: Primary Microcephaly, Recessive |
ClinVar |
|
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NCBI chr15:30,487,899...30,626,024
Ensembl chr15:30,487,883...30,626,024
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G |
Ros1 |
ROS proto-oncogene 1 , receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
|
NCBI chr20:31,432,636...31,583,998
Ensembl chr20:31,432,637...31,583,865
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G |
Rpgrip1 |
RPGR interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
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G |
Rpgrip1l |
Rpgrip1-like |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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G |
Rreb1 |
ras responsive element binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr17:26,876,686...27,002,615
Ensembl chr17:26,876,697...27,002,615
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G |
Rsph4a |
radial spoke head component 4A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
|
NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574
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G |
Rtel1 |
regulator of telomere elongation helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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G |
Rttn |
rotatin |
|
ISO |
ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:26608784 PMID:26846091 PMID:28492532 |
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NCBI chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333
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|
G |
Rwdd1 |
RWD domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
|
NCBI chr20:25,949,723...25,967,147
Ensembl chr20:25,941,966...25,967,193
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G |
Sall1 |
spalt-like transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705
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G |
Samd9l1 |
sterile alpha motif domain containing 9 like 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:31,362,054...31,376,412
Ensembl chr 4:31,361,669...31,376,415
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G |
Sbf1 |
SET binding factor 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:23749797 PMID:25741868 |
|
NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902
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G |
Scamp4 |
secretory carrier membrane protein 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:9,101,504...9,113,929
Ensembl chr 7:9,101,489...9,113,967
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G |
Scarf2 |
scavenger receptor class F, member 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:14672992 PMID:17347258 PMID:25741868 PMID:28492532 PMID:32581362 |
|
NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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|
G |
Scn4a |
sodium voltage-gated channel alpha subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
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|
G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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G |
Scrib |
scribble planar cell polarity protein |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:107,759,343...107,782,364
Ensembl chr 7:107,759,343...107,782,331
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|
G |
Sdhd |
succinate dehydrogenase complex subunit D |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238
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|
G |
Sec24c |
SEC24 homolog C, COPII coat complex component |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr15:3,602,460...3,624,524
Ensembl chr15:3,602,460...3,624,422
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G |
Setd5 |
SET domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894
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G |
Sim1 |
SIM bHLH transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212
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G |
Sin3a |
SIN3 transcription regulator family member A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27399968 |
|
NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192
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G |
Slc12a5 |
solute carrier family 12 member 5 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:153,696,522...153,735,801
Ensembl chr 3:153,696,517...153,735,765
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G |
Slc13a5 |
solute carrier family 13 member 5 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945
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G |
Slc1a4 |
solute carrier family 1 member 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr14:94,530,801...94,560,190
Ensembl chr14:94,529,084...94,560,418
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G |
Slc25a19 |
solute carrier family 25 member 19 |
|
ISO |
Microcephaly, Amish type, OMIM:607196;DNA:point mutation:exon:G177A |
RGD |
PMID:12185364 |
RGD:1624242 |
NCBI chr10:100,853,554...100,867,517
Ensembl chr10:100,847,168...100,867,447
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G |
Slc2a1 |
solute carrier family 2 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly |
CTD ClinVar |
PMID:9462754 PMID:10980529 PMID:25326635 PMID:25741868 PMID:28492532 PMID:32581362 More...
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NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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G |
Slc35f1 |
solute carrier family 35, member F1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
|
NCBI chr20:32,030,350...32,418,762
Ensembl chr20:32,030,368...32,418,611
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G |
Slx4 |
SLX4 structure-specific endonuclease subunit |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:11,526,563...11,549,291
Ensembl chr10:11,528,424...11,549,295
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G |
Smarca2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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|
G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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G |
Smc1a |
structural maintenance of chromosomes 1A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:16604071 PMID:17273969 PMID:24124034 PMID:25125236 PMID:25741868 PMID:28425213 PMID:28492532 More...
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NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
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G |
Smo |
smoothened, frizzled class receptor |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:58,344,101...58,372,828
Ensembl chr 4:58,343,529...58,373,829
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G |
Snap25 |
synaptosome associated protein 25 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:33299146 |
|
NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
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G |
Spock1 |
sparc/osteonectin, cwcv and kazal like domains proteoglycan 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr17:6,741,504...7,221,685
Ensembl chr17:6,742,273...7,224,935
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G |
Sptan1 |
spectrin, alpha, non-erythrocytic 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
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G |
Sptlc1 |
serine palmitoyltransferase, long chain base subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr17:11,877,249...11,916,295
Ensembl chr17:11,877,249...11,916,295
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G |
Srcap |
Snf2-related CREBBP activator protein |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:182,123,562...182,172,643
Ensembl chr 1:182,118,416...182,176,610
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G |
Stambp |
Stam binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23542699 |
|
NCBI chr 4:116,055,563...116,083,563
Ensembl chr 4:116,056,057...116,080,543
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G |
Stil |
STIL, centriolar assembly protein |
|
ISO |
ClinVar Annotator: match by term: Primary Microcephaly, Recessive |
ClinVar |
|
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NCBI chr 5:128,520,837...128,573,732
Ensembl chr 5:128,520,953...128,573,730
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G |
Stt3a |
STT3 oligosaccharyltransferase complex catalytic subunit A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:36,443,623...36,483,111
Ensembl chr 8:36,446,788...36,483,293
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G |
Stxbp1 |
syntaxin binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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|
G |
Svbp |
small vasohibin binding protein |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:30607023 PMID:31363758 |
|
NCBI chr 5:132,808,021...132,813,735
Ensembl chr 5:132,808,204...132,813,735
|
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G |
Taf2 |
TATA-box binding protein associated factor 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:86,422,613...86,479,616
Ensembl chr 7:86,422,613...86,479,616
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G |
Tat |
tyrosine aminotransferase |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr19:37,947,153...37,957,717
Ensembl chr19:37,947,112...37,958,031
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G |
Tbc1d32 |
TBC1 domain family, member 32 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
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G |
Tbcd |
tubulin folding cofactor D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27666370 PMID:27666374 |
|
NCBI chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122
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|
G |
Tbce |
tubulin folding cofactor E |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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|
G |
Tbl2 |
transducin (beta)-like 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr12:21,517,600...21,532,114
Ensembl chr12:21,520,682...21,531,896
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|
G |
Tbx2 |
T-box transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr10:70,679,670...70,688,868
Ensembl chr10:70,679,518...70,688,529
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|
G |
Tcf4 |
transcription factor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly |
CTD ClinVar |
PMID:18728071 PMID:21671391 PMID:22460224 PMID:25741868 PMID:28492532 PMID:28708303 PMID:32581362 More...
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NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425
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|
G |
Tcof1 |
treacle ribosome biogenesis factor 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr18:54,267,015...54,300,324
Ensembl chr18:54,267,026...54,300,324
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|
G |
Tctn2 |
tectonic family member 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
|
|
G |
Tecpr2 |
tectonin beta-propeller repeat containing 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:129,899,541...130,001,975
Ensembl chr 6:129,899,636...130,001,974
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|
G |
Telo2 |
telomere maintenance 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr10:14,120,491...14,135,729
Ensembl chr10:14,120,818...14,135,698
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G |
Tert |
telomerase reverse transcriptase |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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|
G |
Tfap2c |
transcription factor AP-2 gamma |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:161,315,114...161,322,998
Ensembl chr 3:161,315,031...161,322,995
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|
G |
Tmem67 |
transmembrane protein 67 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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|
G |
Tnnt3 |
troponin T3, fast skeletal type |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535
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G |
Traip |
TRAF-interacting protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26595769 |
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NCBI chr 8:108,641,860...108,661,640
Ensembl chr 8:108,641,852...108,661,638
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|
G |
Trappc3l |
trafficking protein particle complex subunit 3L |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr20:25,992,835...26,084,938
Ensembl chr20:25,967,502...26,078,989
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|
G |
Trio |
trio Rho guanine nucleotide exchange factor |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:32581362 |
|
NCBI chr 2:78,505,069...78,801,384
Ensembl chr 2:78,505,070...78,803,135
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|
G |
Trps1 |
transcriptional repressor GATA binding 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:81,916,668...82,142,733
Ensembl chr 7:81,921,601...82,141,905
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|
G |
Tsen2 |
tRNA splicing endonuclease subunit 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18711368 |
|
NCBI chr 4:148,602,805...148,638,219
Ensembl chr 4:148,602,863...148,638,215
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|
G |
Tsen34 |
tRNA splicing endonuclease subunit 34 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18711368 |
|
NCBI chr 1:65,517,324...65,525,194
Ensembl chr 1:65,517,330...65,524,412
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|
G |
Tsen54 |
tRNA splicing endonuclease subunit 54 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly |
CTD ClinVar |
PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 PMID:20803644 PMID:20952379 PMID:20956791 PMID:21368912 PMID:21468723 PMID:21609947 PMID:23177318 PMID:23307886 PMID:24033266 PMID:24886362 PMID:25326635 PMID:25741868 PMID:26701950 PMID:27430971 PMID:27570394 PMID:28492532 PMID:29410950 More...
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|
NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087
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|
G |
Tti2 |
TELO2 interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr16:60,980,665...60,988,587
Ensembl chr16:60,979,039...60,988,569
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G |
Tuba1a |
tubulin, alpha 1A |
|
ISO |
associated with Lissencephaly;DNA:missense mutations:cds: |
RGD |
PMID:18728072 |
RGD:11069114 |
NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
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|
G |
Tuba8 |
tubulin, alpha 8 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917
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|
G |
Tubb4a |
tubulin, beta 4A class IVa |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25085639 PMID:25326637 PMID:25741868 PMID:28492532 PMID:28973395 PMID:32581362 More...
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|
NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291
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|
G |
Tubb5 |
tubulin, beta 5 class I |
|
ISS |
OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 |
MouseDO |
|
|
NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940
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|
G |
Tubg1 |
tubulin, gamma 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23603762 |
|
NCBI chr10:86,052,845...86,059,436
Ensembl chr10:86,052,743...86,059,433
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|
G |
Tubgcp5 |
tubulin, gamma complex associated protein 5 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:106,636,526...106,672,175
Ensembl chr 1:106,636,526...106,672,175
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|
G |
Tubgcp6 |
tubulin, gamma complex associated protein 6 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011
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|
G |
Ubr1 |
ubiquitin protein ligase E3 component n-recognin 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:107,813,721...107,921,701
Ensembl chr 3:107,811,392...107,922,204
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|
G |
Ufsp2 |
UFM1-specific peptidase 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33473208 |
|
NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059
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|
G |
Unc80 |
unc-80 homolog, NALCN channel complex subunit |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:68,011,940...68,190,135
Ensembl chr 9:68,011,728...68,187,659
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|
G |
Vars1 |
valyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:30275004 |
|
NCBI chr20:3,805,774...3,820,468
Ensembl chr20:3,805,776...3,820,298
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|
G |
Vgll2 |
vestigial-like family member 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
|
NCBI chr20:31,409,529...31,415,408
Ensembl chr20:31,409,552...31,415,408
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|
G |
Vldlr |
very low density lipoprotein receptor |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
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|
G |
Vps13b |
vacuolar protein sorting 13 homolog B |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
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|
G |
Vps33b |
VPS33B, late endosome and lysosome associated |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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|
G |
Vps53 |
VPS53 subunit of GARP complex |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:60,919,820...61,038,674
Ensembl chr10:60,919,820...61,038,676
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|
G |
Wdfy3 |
WD repeat and FYVE domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr14:7,578,245...7,810,491
Ensembl chr14:7,606,628...7,810,482
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G |
Wdr11 |
WD repeat domain 11 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846
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|
G |
Wdr62 |
WD repeat domain 62 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:20890278 PMID:20890279 PMID:24875059 |
RGD:11541053 |
NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637
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G |
Wdr81 |
WD repeat domain 81 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:32581362 |
|
NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296
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|
G |
Xirp1 |
xin actin-binding repeat containing 1 |
|
ISO |
ClinVar Annotator: match by term: Classical primary microcephaly |
ClinVar |
PMID:25558065 PMID:25741868 |
|
NCBI chr 8:119,744,778...119,757,547
Ensembl chr 8:119,747,419...119,757,349
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|
G |
Yme1l1 |
YME1-like 1 ATPase |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr17:85,287,607...85,326,068
Ensembl chr17:85,287,554...85,326,335
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G |
Zc4h2 |
zinc finger C4H2-type containing |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26056227 |
|
NCBI chr X:60,525,706...60,546,519
Ensembl chr X:60,525,712...60,546,488
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G |
Zfp276 |
zinc finger protein (C2H2 type) 276 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:26689913 PMID:28202063 PMID:28492532 PMID:30032139 |
|
NCBI chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049
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|
G |
Zfp668 |
zinc finger protein 668 |
|
ISO |
ClinVar Annotator: match by term: Progressive microcephaly |
ClinVar |
|
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NCBI chr 1:182,474,633...182,484,957
Ensembl chr 1:182,474,633...182,492,878
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|
G |
Zup1 |
zinc finger containing ubiquitin peptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
|
NCBI chr20:30,785,226...30,815,377
Ensembl chr20:30,785,227...30,815,306
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|
G |
Ankrd28 |
ankyrin repeat domain 28 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr16:6,918,487...7,050,244
Ensembl chr16:6,914,336...7,050,249
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|
G |
Btd |
biotinidase |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945
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|
G |
C4h3orf20 |
similar to human chromosome 3 open reading frame 20 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 4:124,422,033...124,470,657
Ensembl chr 4:124,432,193...124,469,254
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|
G |
Capn7 |
calpain 7 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr16:6,545,630...6,581,908
Ensembl chr16:6,545,731...6,581,905
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|
G |
Ccdc174 |
coiled-coil domain containing 174 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 4:124,392,183...124,419,035
Ensembl chr 4:124,392,274...124,419,035
|
|
G |
Chchd4 |
coiled-coil-helix-coiled-coil-helix domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 4:123,968,264...123,977,398
Ensembl chr 4:123,968,265...123,977,414
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|
G |
Colq |
collagen like tail subunit of asymmetric acetylcholinesterase |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr16:6,731,850...6,824,973
Ensembl chr16:6,731,858...6,787,107
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G |
Dazl |
deleted in azoospermia-like |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:10,695,572...10,712,443
Ensembl chr 9:10,695,592...10,712,323
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|
G |
Dph3 |
diphthamide biosynthesis 3 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr16:7,288,295...7,293,734
Ensembl chr16:7,282,705...7,291,265
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G |
Eaf1 |
ELL associated factor 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr16:6,698,322...6,713,071
Ensembl chr16:6,698,322...6,713,071
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G |
Efhb |
EF hand domain family, member B |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:6,372,191...6,441,678
Ensembl chr 9:6,372,194...6,441,919
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G |
Fbln2 |
fibulin 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 4:123,704,289...123,763,857
Ensembl chr 4:123,704,373...123,763,948
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G |
Fgd5 |
FYVE, RhoGEF and PH domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 4:124,497,061...124,594,564
Ensembl chr 4:124,497,068...124,594,563
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|
G |
Galnt15 |
polypeptide N-acetylgalactosaminyltransferase 15 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr16:7,227,232...7,267,002
Ensembl chr16:7,227,271...7,267,014
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|
G |
Grip2 |
glutamate receptor interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 4:124,271,456...124,356,538
Ensembl chr 4:124,271,456...124,321,268
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|
G |
Hacl1 |
2-hydroxyacyl-CoA lyase 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr16:6,826,881...6,863,027
Ensembl chr16:6,824,906...6,863,027
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G |
Hdac11 |
histone deacetylase 11 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 4:123,645,873...123,667,407
Ensembl chr 4:123,650,157...123,667,405
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G |
Kat2b |
lysine acetyltransferase 2B |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:6,562,525...6,667,064
Ensembl chr 9:6,562,288...6,667,064
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G |
Kcnh8 |
potassium voltage-gated channel subfamily H member 8 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:5,506,044...5,945,828
Ensembl chr 9:5,506,044...5,945,828
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G |
Lsm3 |
LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 4:124,021,023...124,027,269
Ensembl chr 4:124,021,023...124,027,269
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G |
Mettl6 |
methyltransferase 6, methylcytidine |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr16:6,683,820...6,699,013
Ensembl chr16:6,583,465...6,698,975
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G |
Mrps25 |
mitochondrial ribosomal protein S25 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 4:124,668,320...124,680,086
Ensembl chr 4:124,668,094...124,680,057
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G |
Nr2c2 |
nuclear receptor subfamily 2, group C, member 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 4:124,610,216...124,666,813
Ensembl chr 4:124,608,960...124,661,902
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G |
Nup210 |
nucleoporin 210 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 4:123,511,559...123,609,874
Ensembl chr 4:123,511,559...123,609,874
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|
G |
Oxnad1 |
oxidoreductase NAD-binding domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr16:7,293,470...7,322,540
Ensembl chr16:7,293,470...7,322,540
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|
G |
Plcl2 |
phospholipase C-like 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:3,292,564...3,477,009
Ensembl chr 9:3,292,695...3,477,009
|
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G |
Pp2d1 |
protein phosphatase 2C-like domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:6,512,282...6,533,653
Ensembl chr 9:6,512,657...6,533,639
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G |
Rab5a |
RAB5A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:6,483,906...6,512,877
Ensembl chr 9:6,484,469...6,512,873
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G |
Rbsn |
rabenosyn, RAB effector |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 4:124,682,228...124,712,578
Ensembl chr 4:124,683,969...124,712,578
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G |
Rftn1 |
raftlin lipid raft linker 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:10,804,611...11,002,084
Ensembl chr 9:10,804,611...11,002,084
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|
G |
Satb1 |
SATB homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251
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G |
Setd5 |
SET domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:21681106 |
|
NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894
|
|
G |
Sh3bp5 |
SH3-domain binding protein 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr16:6,583,462...6,678,344
Ensembl chr16:6,583,465...6,698,975
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|
G |
Slc6a6 |
solute carrier family 6 member 6 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 4:124,195,186...124,268,880
Ensembl chr 4:124,195,218...124,268,875
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|
G |
Tbc1d5 |
TBC1 domain family, member 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:3,503,328...4,017,131
Ensembl chr 9:3,513,623...4,016,913
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G |
Thumpd3 |
THUMP domain containing 3 |
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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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G |
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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G |
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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G |
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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G |
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 |
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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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G |
Slc25a19 |
solute carrier family 25 member 19 |
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ISO |
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 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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G |
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 |
OMIM ClinVar |
PMID:17374998 PMID:23431171 PMID:25728775 PMID:25728777 PMID:25741868 PMID:26938784 PMID:27133397 PMID:28492532 PMID:30245513 PMID:31292255 PMID:33318932 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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G |
Asns |
asparagine synthetase (glutamine-hydrolyzing) |
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ISO |
ClinVar Annotator: match by term: ASNS DEFICIENCY | ClinVar Annotator: match by term: Asparagine synthetase deficiency |
OMIM ClinVar |
PMID:16199547 PMID:24139043 PMID:25741868 PMID:25758715 PMID:26395554 PMID:27422383 PMID:27469131 PMID:27522229 PMID:27711071 PMID:28492532 PMID:28776279 PMID:29279279 PMID:29375865 PMID:29405484 PMID:30057589 PMID:30214071 PMID:30978478 PMID:32255274 PMID:32906196 PMID:34906502 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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G |
Copb1 |
COPI coat complex subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Baralle-Macken syndrome |
OMIM ClinVar |
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:25741868 PMID:25792360 PMID:28492532 PMID:30039206 |
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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: Beaulieu-Boycott-Innes 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: Beaulieu-Boycott-Innes syndrome | ClinVar Annotator: match by term: Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations |
OMIM ClinVar |
PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 PMID:27102954 PMID:27295358 PMID:30238602 PMID:30476144 PMID:31421288 PMID:32790266 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 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
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:28492532 |
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NCBI chr 1:132,981,034...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
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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...90,744,331
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 |
|
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 |
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 3:105,675,147...105,680,200
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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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: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: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: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
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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 |
ClinVar Annotator: match by term: Bloom syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:2678854 PMID:7585968 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:11399766 PMID:12242432 PMID:12444098 PMID:15579905 PMID:15609317 PMID:15930159 PMID:16199547 PMID:17407155 PMID:17576681 PMID:17878217 PMID:18414213 PMID:18471088 PMID:19763152 PMID:19917125 PMID:20301572 PMID:20307669 PMID:20980836 PMID:21113733 PMID:21440839 PMID:21815139 PMID:22406018 PMID:22582397 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:25850943 PMID:25901030 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:27124789 PMID:27153395 PMID:27175728 PMID:27356891 PMID:27516001 PMID:27657136 PMID:27854218 PMID:27876123 PMID:27959697 PMID:28125078 PMID:28195393 PMID:28232778 PMID:28464862 PMID:28492532 PMID:28611551 PMID:28724667 PMID:28832562 PMID:28873162 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:30044990 PMID:30152102 PMID:30214240 PMID:30256826 PMID:30262796 PMID:30306255 PMID:30502717 PMID:30613976 PMID:30666157 PMID:30840646 PMID:30871259 PMID:30995915 PMID:31118792 PMID:31159747 PMID:31212687 PMID:31253795 PMID:31263571 PMID:31360874 PMID:31562900 PMID:31780696 PMID:31816118 PMID:31844177 PMID:31937788 PMID:31942411 PMID:31956452 PMID:31970404 PMID:32073752 PMID:32107087 PMID:32283892 PMID:32449991 PMID:32566746 PMID:32595206 PMID:32860008 PMID:32868804 PMID:32923906 PMID:33077847 PMID:33318203 PMID:33436027 PMID:33558524 PMID:33563768 PMID:33606809 PMID:33647232 PMID:33832920 PMID:34177791 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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G |
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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G |
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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G |
Bnc1 |
basonuclin 1 |
|
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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G |
Bnip2 |
BCL2 interacting protein 2 |
|
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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G |
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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G |
Bub1b |
BUB1 mitotic checkpoint serine/threonine kinase B |
|
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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G |
C1h15orf40 |
similar to human chromosome 15 open reading frame 40 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:135,725,869...135,732,136
Ensembl chr 1:135,717,545...135,732,039
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G |
C2cd4a |
C2 calcium-dependent domain containing 4A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:68,467,017...68,470,033
Ensembl chr 8:68,466,664...68,470,031
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G |
C2cd4b |
C2 calcium-dependent domain containing 4B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:68,372,793...68,396,477
Ensembl chr 8:68,384,847...68,396,328
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G |
C8h15orf39 |
similar to human chromosome 15 open reading frame 39 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:57,646,324...57,655,896
Ensembl chr 8:57,645,756...57,655,941
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G |
C8h15orf61 |
similar to human chromosome 15 open reading frame 61 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:63,868,125...63,872,863
Ensembl chr 8:63,868,125...63,872,751
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G |
Calml4 |
calmodulin-like 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:63,323,426...63,335,234
Ensembl chr 8:63,323,351...63,335,234
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G |
Capn3 |
calpain 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858
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G |
Car12 |
carbonic anhydrase 12 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:67,274,739...67,330,428
Ensembl chr 8:67,274,359...67,330,440
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G |
Catsper2 |
cation channel, sperm associated 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:108,368,654...108,389,380
Ensembl chr 3:108,368,668...108,388,050
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G |
Ccdc32 |
coiled-coil domain containing 32 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:105,998,429...106,010,930
Ensembl chr 3:105,998,430...106,010,975
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G |
Ccdc33 |
coiled-coil domain containing 33 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,434,798...58,534,338
Ensembl chr 8:58,435,661...58,534,370
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G |
Ccdc9b |
coiled-coil domain containing 9B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:105,736,120...105,745,039
Ensembl chr 3:105,739,174...105,744,697
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G |
Ccnb2 |
cyclin B2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:71,087,594...71,100,794
Ensembl chr 8:71,087,595...71,100,874
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G |
Ccndbp1 |
cyclin D1 binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:107,962,402...107,974,234
Ensembl chr 3:107,962,261...107,974,233
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G |
Ccpg1 |
cell cycle progression 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:73,719,960...73,752,437
Ensembl chr 8:73,719,955...73,752,430
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G |
Cd276 |
Cd276 molecule |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,937,751...58,968,082
Ensembl chr 8:58,937,751...58,968,380
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G |
Cdan1 |
codanin 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:107,675,147...107,689,811
Ensembl chr 3:107,673,645...107,689,773
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G |
Cdin1 |
CDAN1 interacting nuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:102,441,553...102,646,935
Ensembl chr 3:102,441,704...102,646,682
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G |
Celf6 |
CUGBP, Elav-like family member 6 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:59,975,095...60,006,060
Ensembl chr 8:59,975,088...60,005,041
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G |
Cemip |
cell migration inducing hyaluronidase 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:137,906,921...138,062,430
Ensembl chr 1:137,908,920...138,062,415
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G |
Cep152 |
centrosomal protein 152 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:112,803,185...112,878,298
Ensembl chr 3:112,810,425...112,878,458
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G |
Cfap161 |
cilia and flagella associated protein 161 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:137,743,783...137,768,685
Ensembl chr 1:137,743,784...137,768,730
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G |
Cgnl1 |
cingulin-like 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:72,273,401...72,424,842
Ensembl chr 8:72,275,645...72,422,917
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G |
Chac1 |
ChaC glutathione-specific gamma-glutamylcyclotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,342,302...106,345,526
Ensembl chr 3:106,342,302...106,345,526
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G |
Chp1 |
calcineurin-like EF-hand protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,536,009...106,571,255
Ensembl chr 3:106,536,004...106,571,251
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G |
Chrm5 |
cholinergic receptor, muscarinic 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:99,284,846...99,337,252
Ensembl chr 3:99,284,846...99,337,252
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G |
Chrna3 |
cholinergic receptor nicotinic alpha 3 subunit |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,401,981...55,415,012
Ensembl chr 8:55,401,702...55,415,165
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G |
Chrna5 |
cholinergic receptor nicotinic alpha 5 subunit |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146
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G |
Chrnb4 |
cholinergic receptor nicotinic beta 4 subunit |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,418,379...55,436,967
Ensembl chr 8:55,418,313...55,437,027
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G |
Chst14 |
carbohydrate sulfotransferase 14 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:105,916,481...105,918,538
Ensembl chr 3:105,916,466...105,918,548
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G |
Ciao2a |
cytosolic iron-sulfur assembly component 2A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:66,670,533...66,682,455
Ensembl chr 8:66,670,483...66,682,455
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G |
Cib1 |
calcium and integrin binding 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423
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G |
Cib2 |
calcium and integrin binding family member 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:54,930,265...54,947,157
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|
G |
Cilp |
cartilage intermediate layer protein |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:65,777,281...65,792,251
Ensembl chr 8:65,777,281...65,792,251
|
|
G |
Ckmt1 |
creatine kinase, mitochondrial 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:108,329,859...108,335,760
Ensembl chr 3:108,330,705...108,335,758
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G |
Clk3 |
CDC-like kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,152,155...58,167,196
Ensembl chr 8:58,152,155...58,168,181
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G |
Cln6 |
CLN6, transmembrane ER protein |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
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G |
Clpx |
caseinolytic mitochondrial matrix peptidase chaperone subunit X |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:65,805,460...65,845,643
Ensembl chr 8:65,805,511...65,845,082
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G |
Commd4 |
COMM domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:57,566,236...57,569,794
Ensembl chr 8:57,566,236...57,569,760
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G |
Cops2 |
COP9 signalosome subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:113,084,174...113,110,090
Ensembl chr 3:113,084,176...113,109,947
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G |
Coro2b |
coronin 2B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:62,906,861...63,017,295
Ensembl chr 8:62,906,867...63,017,302
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G |
Cox5a |
cytochrome c oxidase subunit 5A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:57,922,374...57,933,781
Ensembl chr 8:57,922,290...57,933,781
|
|
G |
Cpeb1 |
cytoplasmic polyadenylation element binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760
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G |
Cplx3 |
complexin 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,003,535...58,010,297
Ensembl chr 8:58,003,535...58,010,297
|
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G |
Crabp1 |
cellular retinoic acid binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,138,363...55,159,360
Ensembl chr 8:55,151,285...55,159,360
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G |
Crtc3 |
CREB regulated transcription coactivator 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,552,830...134,655,929
Ensembl chr 1:134,554,696...134,655,500
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G |
Csk |
C-terminal Src kinase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,029,748...58,048,742
Ensembl chr 8:58,029,749...58,048,292
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G |
Csnk1g1 |
casein kinase 1, gamma 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:66,439,760...66,577,247
Ensembl chr 8:66,439,864...66,572,826
|
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G |
Cspg4 |
chondroitin sulfate proteoglycan 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010
|
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G |
Ctdspl2 |
CTD small phosphatase like 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:108,914,650...108,970,620
Ensembl chr 3:108,915,280...108,967,227
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G |
Ctsh |
cathepsin H |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824
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G |
Ctxn2 |
cortexin 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:112,390,972...112,401,321
Ensembl chr 3:112,391,335...112,401,319
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G |
Cyp11a1 |
cytochrome P450, family 11, subfamily a, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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G |
Cyp19a1 |
cytochrome P450, family 19, subfamily a, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:54,553,165...54,580,758
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
|
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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
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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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Duoxa2 |
dual oxidase maturation factor 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,245,476...109,248,844
Ensembl chr 3:109,245,476...109,248,968
|
|
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
|
|
G |
Edc3 |
enhancer of mRNA decapping 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,106,129...58,151,685
Ensembl chr 8:58,106,175...58,151,671
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Fam219b |
family with sequence similarity 219, member B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:57,941,251...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
|
|
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 3:104,134,759...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:28492532 |
|
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Fes |
FES proto-oncogene, tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr 1:134,337,698...134,346,934
Ensembl chr 1:134,337,698...134,346,934
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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:17407155 PMID:28492532 |
|
NCBI chr 1:134,348,142...134,361,182
Ensembl chr 1:134,348,144...134,364,314
|
|
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...113,924,744
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
|
|
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
|
|
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
|
|
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
|
|
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:28492532 |
|
NCBI chr 1:134,184,095...134,193,281
Ensembl chr 1:134,183,696...134,219,783
|
|
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
|
|
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
|
|
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
|
|
G |
Gnb5 |
G protein subunit beta 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:76,076,227...76,104,151
Ensembl chr 8:76,073,306...76,105,069
|
|
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
|
|
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 8:70,662,395...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: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 3:107,553,094...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:17407155 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
|
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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: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: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 8:63,145,950...63,254,717
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
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G |
Kif7 |
kinesin family member 7 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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G |
LOC691418 |
hypothetical protein LOC691418 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,163,898...106,167,404
Ensembl chr 3:106,157,382...106,167,831
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G |
Loxl1 |
lysyl oxidase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,692,592...58,716,356
Ensembl chr 8:58,692,593...58,716,356
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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
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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
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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
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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
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G |
Lysmd2 |
LysM domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:76,378,984...76,394,395
Ensembl chr 8:76,379,219...76,394,654
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G |
Man2a2 |
mannosidase, alpha, class 2A, member 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr 1:134,304,714...134,327,611
Ensembl chr 1:134,306,236...134,327,315
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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
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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
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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
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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
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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
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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
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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
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G |
Meis2 |
Meis homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:102,742,905...102,944,833
Ensembl chr 3:102,742,900...102,949,696
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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
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G |
Mesp1 |
mesoderm posterior bHLH transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:133,738,357...133,739,875
Ensembl chr 1:133,738,357...133,739,875
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G |
Mesp2 |
mesoderm posterior bHLH transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:133,756,601...133,759,207
Ensembl chr 1:133,756,601...133,759,198
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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
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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
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G |
Mfge8 |
milk fat globule EGF and factor V/VIII domain containing |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:133,064,665...133,080,069
Ensembl chr 1:133,064,665...133,080,073
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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
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G |
MGC105649 |
hypothetical LOC302884 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,719,952...109,723,507
Ensembl chr 3:109,719,897...109,724,006 Ensembl chr 3:109,719,897...109,724,006
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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
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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
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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
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G |
Mir9-3 |
microRNA 9-3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:133,440,049...133,440,138
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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G |
Myo9a |
myosin IXA |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:60,149,234...60,348,726
Ensembl chr 8:60,149,234...60,350,514
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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: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 8:58,996,876...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...106,633,624
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 |
Odf3l1 |
outer dense fiber of sperm tails 3-like 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:57,248,746...57,281,084
Ensembl chr 8:57,248,746...57,281,004
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:66,420,673...66,432,568
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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:65,862,604...65,877,333
Ensembl chr 8:65,862,387...65,877,333
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G |
Pde8a |
phosphodiesterase 8A |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
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NCBI chr 1:134,250,086...134,271,765
Ensembl chr 1:134,250,081...134,271,765
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G |
Prtg |
protogenin |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:57,391,290...57,472,352
Ensembl chr 8:57,391,259...57,470,952
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G |
Pygo1 |
pygopus family PHD finger 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:73,666,467...73,684,641
Ensembl chr 8:73,665,593...73,684,869
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G |
Rab11a |
RAB11a, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
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NCBI chr 1:134,271,870...134,281,556
Ensembl chr 1:134,271,857...134,280,781
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G |
Rcn2 |
reticulocalbin 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:73,254,051...73,339,209
Ensembl chr 8:73,254,051...73,339,209
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