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 chr12:35,432,834...35,446,969
Ensembl chr12:36,214,444...36,227,886
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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 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941
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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 chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759
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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 chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
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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 chr17:75,965,911...75,968,822
Ensembl chr17:81,668,221...81,671,087
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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 1:129,937,993...129,983,747
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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 chr21:31,374,841...31,532,721
Ensembl chr21:44,715,931...44,815,748
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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 chr19:910,954...912,687
Ensembl chr19:1,890,437...1,891,748
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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 chr10:106,597,693...106,727,494
Ensembl chr10:110,123,270...110,178,671
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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 1:80,506,240...81,189,353
Ensembl chr 1:83,086,465...83,317,446
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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 chr20:47,233,696...47,276,075
Ensembl chr20:48,361,043...48,400,387
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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 chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
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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:100,794,882...100,874,083
Ensembl chr X:111,253,717...111,332,534
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ALOXE3 |
arachidonate epidermal lipoxygenase 3 |
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ISO |
ClinVar Annotator: match by term: Progressive microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr17:43,539,657...43,562,433
Ensembl chr17:48,271,226...48,293,941
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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:20383509 PMID:25023282 PMID:25741868 PMID:28492532 PMID:30293248 PMID:31754721 PMID:31857675 PMID:32160374 PMID:33452237 PMID:35197081 PMID:37107680 More...
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NCBI chr 1:20,702,509...20,772,301
Ensembl chr 1:21,667,732...21,736,688
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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 chr2B:88,954,167...89,034,764
Ensembl chr2B:207,108,952...207,189,623
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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 1:111,997,440...112,009,662
Ensembl chr 1:111,225,522...111,237,778
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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 chr 8:40,897,879...41,140,290
Ensembl chr 8:38,346,503...38,588,549
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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 chr12:130,091,476...130,123,533
Ensembl chr12:134,805,830...134,835,140
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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 chr15:62,888,359...62,938,758
Ensembl chr15:80,557,967...80,607,475
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AP4M1 |
adaptor related protein complex 4 subunit mu 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24700674 PMID:25558065 PMID:25741868 PMID:32979048 |
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NCBI chr 7:92,137,085...92,142,756
Ensembl chr 7:105,570,205...105,575,971
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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 chr11:113,411,166...113,441,792
Ensembl chr11:117,341,427...117,371,589
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ARFGEF2 |
ARF 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 chr20:45,262,330...45,376,237
Ensembl chr20:46,327,753...46,442,518
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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 1:131,282,514...131,326,535
Ensembl chr 1:135,112,040...135,159,299
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ARID1A |
AT-rich interaction domain 1A |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239
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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 6:154,581,148...155,018,706
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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 chr12:42,823,236...43,004,465
Ensembl chr12:43,692,914...43,871,564
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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 chr22:2,729,706...2,779,034
Ensembl chr22:18,403,239...18,449,183
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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 chr 6:116,702,314...116,717,445
Ensembl chr 6:120,843,461...120,858,471
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ASPM |
assembly factor for spindle microtubules |
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ISO |
ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive |
ClinVar |
PMID:19028728 PMID:20301772 PMID:20679666 PMID:22823409 PMID:23611254 PMID:25741868 PMID:26539891 PMID:28492532 PMID:30842647 More...
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NCBI chr 1:172,674,890...172,737,426
Ensembl chr 1:176,988,297...177,050,810
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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 chr20:28,647,004...28,727,865
Ensembl chr20:29,774,582...29,850,453
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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 PMID:33471991 PMID:36243179 More...
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NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
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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 chr17:33,256,239...33,280,360
Ensembl chr17:38,203,888...38,224,911
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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 3:139,482,606...139,612,274
Ensembl chr 3:147,075,185...147,196,261
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ATRX |
ATRX chromatin remodeler |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:7697714 PMID:23820649 PMID:24690944 PMID:24805811 PMID:25741868 PMID:28371217 PMID:28492532 More...
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NCBI chr X:66,682,968...66,969,421
Ensembl chr X:76,795,574...77,083,486
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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 chr 1:211,006,939...211,064,445
Ensembl chr 1:216,018,886...216,076,060
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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 PMID:28492532 |
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NCBI chr X:143,265,920...143,274,956
Ensembl chr X:153,137,992...153,161,628
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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 chr14:79,795,262...79,898,472
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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 chr15:69,407,248...69,508,070
Ensembl chr15:88,607,157...88,707,864
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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 chr17:61,759,241...61,917,343
Ensembl chr17:66,956,594...67,109,428
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BUB1B |
BUB1 mitotic checkpoint serine/threonine kinase B |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:19,095,383...19,155,557
Ensembl chr15:37,350,826...37,410,648
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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 chr 6:114,337,385...114,369,423
Ensembl chr 6:118,482,269...118,512,046
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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 chr 6:114,319,599...114,325,898
Ensembl chr 6:118,464,517...118,471,411
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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 chr 6:114,263,062...114,265,898
Ensembl chr 6:118,409,813...118,411,574
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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:30842224 PMID:31036916 PMID:32581362 PMID:32875707 More...
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NCBI chr 7:44,930,859...45,040,078
Ensembl chr 7:45,001,267...45,110,342
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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 chr13:91,776,774...91,843,262
Ensembl chr13:110,892,948...110,957,000
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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:33,967,329...34,374,385
Ensembl chr X:41,659,295...42,066,570
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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 chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671
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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 chr 4:9,904,237...10,047,440
Ensembl chr 4:15,204,326...15,349,281
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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 chr2A:55,445,060...55,576,479
Ensembl chr2A:56,589,221...56,715,362
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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 chr22:2,239,040...2,279,807
Ensembl chr22:17,913,729...17,955,195
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CDC6 |
cell division cycle 6 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:16,987,721...17,002,488
Ensembl chr17:17,211,681...17,225,972
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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 chr 6:108,413,832...108,619,053
Ensembl chr 6:112,483,434...112,686,987
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CDK5RAP2 |
CDK5 regulatory subunit associated protein 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive |
ClinVar |
PMID:18414213 PMID:20301772 PMID:25741868 PMID:28492532 PMID:32581362 |
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NCBI chr 9:91,519,179...91,707,469
Ensembl chr 9:119,868,015...120,055,608
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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 chr11:120,772,160...120,877,529
Ensembl chr11:124,685,084...124,786,091
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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 chr 1:190,170,414...190,231,478
Ensembl chr 1:195,024,877...195,086,518
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CEP152 |
centrosomal protein 152 |
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ISO |
ClinVar Annotator: match by term: Primary Microcephaly, Recessive |
ClinVar |
PMID:25741868 |
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NCBI chr15:27,665,278...27,760,808
Ensembl chr15:46,011,447...46,084,233
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CEP290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31970223 |
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NCBI chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044
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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 3:131,532,450...131,609,240
Ensembl chr 3:139,003,898...139,092,680
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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 chr 6:116,270,880...116,461,166
Ensembl chr 6:120,415,944...120,603,797
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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 5:39,788,858...39,927,626
Ensembl chr 5:40,400,900...40,539,921
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CFAP96 |
cilia and flagella associated protein 96 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33473208 |
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NCBI chr 4:177,589,308...177,612,834
Ensembl chr 4:189,805,849...189,828,919
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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 chr15:71,568,560...71,713,330
Ensembl chr15:90,781,169...90,903,569
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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 8:57,091,002...57,282,471
Ensembl chr 8:58,816,840...58,945,186
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CIT |
citron rho-interacting serine/threonine kinase |
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ISO |
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RGD |
PMID:10219263 |
RGD:13204836 |
NCBI chr12:117,264,627...117,456,069
Ensembl chr12:120,641,747...120,832,511
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CLASP1 |
cytoplasmic linker associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:26522830 PMID:28492532 PMID:28669401 PMID:32628740 |
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NCBI chr2B:8,265,626...8,574,282
Ensembl chr2B:121,840,484...122,102,793
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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:2,787,185...2,867,846
Ensembl chr X:10,040,067...10,120,991
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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 chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
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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 PMID:36287101 More...
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NCBI chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919
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G |
COPB2 |
COPI coat complex subunit beta 2 |
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ISO |
OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 |
MouseDO |
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NCBI chr 3:136,394,480...136,426,544
Ensembl chr 3:143,994,312...144,020,117
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G |
CPAP |
centrosome assembly and centriole elongation protein |
|
ISO |
ClinVar Annotator: match by term: Primary Microcephaly, Recessive |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr13:6,175,936...6,215,565
Ensembl chr13:24,464,045...24,503,432
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G |
CPT2 |
carnitine palmitoyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:52,469,416...52,487,166
Ensembl chr 1:54,069,334...54,086,994
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G |
CSPP1 |
centrosome and spindle pole associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:63,607,217...63,739,464
Ensembl chr 8:65,268,837...65,401,069
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G |
CSTB |
cystatin B |
|
ISO |
ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Progressive microcephaly |
ClinVar |
PMID:8596935 PMID:9012407 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:29915382 PMID:31440721 PMID:32581362 PMID:35478072 PMID:37541188 PMID:38247861 More...
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NCBI chr21:30,030,359...30,032,899
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G |
CTBP1 |
C-terminal binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 4:1,354,806...1,393,244
Ensembl chr 4:1,238,984...1,266,822
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G |
CTU2 |
cytosolic thiouridylase subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:26633546 PMID:27480277 |
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NCBI chr16:69,419,811...69,428,500
Ensembl chr16:89,079,132...89,088,231
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G |
DCBLD1 |
discoidin, CUB and LCCL domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:115,290,931...115,358,249
Ensembl chr 6:119,434,847...119,519,282
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G |
DDX11 |
DEAD/H-box helicase 11 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr12:55,176,165...55,207,123
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G |
DHCR7 |
7-dehydrocholesterol reductase |
|
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:22975760 PMID:23042628 PMID:23293579 PMID:24033266 PMID:25040602 PMID:25741868 PMID:27415407 PMID:28166604 PMID:28492532 PMID:33223529 More...
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NCBI chr11:66,450,230...66,464,214
Ensembl chr11:69,721,741...69,735,715
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G |
DIAPH1 |
diaphanous related formin 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24781755 PMID:25558065 PMID:25741868 PMID:28492532 |
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NCBI chr 5:136,876,396...136,980,097
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G |
DNM1L |
dynamin 1 like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17460227 |
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NCBI chr12:53,476,553...53,541,421
Ensembl chr12:56,077,504...56,142,376
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G |
DNMT3A |
DNA methyltransferase 3 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30478443 |
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NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605
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G |
DOCK6 |
dedicator of cytokinesis 6 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr19:10,747,850...10,811,483
Ensembl chr19:11,459,062...11,513,220
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G |
DONSON |
DNA replication fork stabilization factor DONSON |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:27040692 PMID:28191891 PMID:28331220 PMID:28492532 PMID:31407851 More...
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NCBI chr21:19,944,692...19,956,140
Ensembl chr21:33,317,841...33,328,132
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G |
DSE |
dermatan sulfate epimerase |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:114,173,641...114,246,129
Ensembl chr 6:118,347,786...118,386,193
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G |
DYNC1H1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23603762 |
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NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
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G |
DYRK1A |
dual specificity tyrosine phosphorylation regulated kinase 1A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25167861 PMID:25326635 PMID:25641759 PMID:25741868 PMID:25920557 PMID:25944381 PMID:28492532 PMID:32581362 More...
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NCBI chr21:23,729,204...23,878,820
Ensembl chr21:37,137,253...37,231,987
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G |
EFTUD2 |
elongation factor Tu GTP binding domain containing 2 |
|
ISO |
associated with mandibulofacial dysostosis, Guion-Almeida type;DNA:mutations:cds:multiple |
RGD |
PMID:24470203 |
RGD:155791662 |
NCBI chr17:12,423,198...12,472,462
Ensembl chr17:12,595,715...12,644,147
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G |
EIF2B1 |
eukaryotic translation initiation factor 2B subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr12:121,206,380...121,218,749
Ensembl chr12:125,433,227...125,446,665
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G |
ELAC2 |
elaC ribonuclease Z 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:38,631,454...38,657,855
Ensembl chr17:43,331,453...43,357,241
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G |
EMC1 |
ER membrane protein complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:18,176,791...18,210,280
Ensembl chr 1:19,223,355...19,257,835
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G |
EP300 |
E1A binding protein p300 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
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G |
EPG5 |
ectopic P-granules 5 autophagy tethering factor |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:39,129,678...39,250,418
Ensembl chr18:42,669,223...42,788,788
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G |
EPM2A |
EPM2A glucan phosphatase, laforin |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 6:143,179,097...143,525,223
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G |
ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28767289 |
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NCBI chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496
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G |
ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10739753 PMID:18628313 |
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NCBI chr10:44,703,720...44,784,948
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G |
EXT1 |
exostosin glycosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24728327 PMID:25741868 PMID:28492532 |
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NCBI chr 8:114,489,325...114,803,763
Ensembl chr 8:117,011,919...117,324,851
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G |
F8 |
coagulation factor VIII |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr X:144,316,192...144,505,773
Ensembl chr X:154,156,873...154,341,317
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G |
FAM111A |
FAM111 trypsin like peptidase A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:54,359,711...54,372,132
Ensembl chr11:57,818,413...57,823,046
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G |
FAM162B |
family with sequence similarity 162 member B |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:114,534,874...114,573,958
Ensembl chr 6:118,704,146...118,717,760
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G |
FAM184A |
family with sequence similarity 184 member A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:116,768,098...116,957,070
Ensembl chr 6:120,908,644...121,026,173
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G |
FANCA |
FA complementation group A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:26689913 PMID:28202063 PMID:28492532 PMID:30032139 |
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NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147
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G |
FANCE |
FA complementation group E |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 6:35,012,076...35,027,018
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G |
FANCI |
FA complementation group I |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
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G |
FAT4 |
FAT atypical cadherin 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407
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G |
FCN3 |
ficolin 3 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 1:26,620,373...26,636,424
Ensembl chr 1:27,676,866...27,683,861
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G |
FGF8 |
fibroblast growth factor 8 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916
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G |
FGFRL1 |
fibroblast growth factor receptor like 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 4:1,125,623...1,142,884
Ensembl chr 4:1,045,583...1,059,936
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G |
FH |
fumarate hydratase |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:30548481 |
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NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212
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G |
FLNA |
filamin A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr X:143,799,088...143,825,282
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G |
FOXG1 |
forkhead box G1 |
|
ISO |
ClinVar Annotator: match by term: Congenital microcephaly |
ClinVar |
PMID:25741868 |
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G |
FRAS1 |
Fraser extracellular matrix complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:45,650,346...46,138,222
Ensembl chr 4:51,500,396...51,981,476
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G |
FREM1 |
FRAS1 related extracellular matrix 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 9:14,567,781...14,748,474
Ensembl chr 9:15,081,208...15,253,399
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G |
FREM2 |
FRAS1 related extracellular matrix 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr13:19,900,324...20,103,303
Ensembl chr13:38,490,750...38,687,048
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G |
FRMD4A |
FERM domain containing 4A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr10:13,643,371...14,331,368
Ensembl chr10:13,975,845...14,192,399
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G |
GATA4 |
GATA binding protein 4 |
|
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 chr 8:7,442,921...7,526,731
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G |
GATAD1 |
GATA zinc finger domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 7:84,445,039...84,456,781
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G |
GEMIN4 |
gem nuclear organelle associated protein 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25558065 PMID:25741868 PMID:27878435 |
|
NCBI chr17:713,806...721,374
Ensembl chr17:637,677...644,438
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G |
GLI2 |
GLI family zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442
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G |
GNAO1 |
G protein subunit alpha o1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:23993195 PMID:25741868 PMID:25966631 PMID:26060304 PMID:27072799 PMID:28202424 PMID:28492532 PMID:28628939 PMID:28747448 More...
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NCBI chr16:36,473,852...36,643,789
Ensembl chr16:55,606,920...55,776,619
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G |
GNB1 |
G protein subunit beta 1 |
|
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 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614
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G |
GOPC |
golgi associated PDZ and coiled-coil motif containing |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
|
NCBI chr 6:115,368,682...115,411,140
Ensembl chr 6:119,509,936...119,552,010
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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 |
|
NCBI chr 6:114,601,360...114,638,286
Ensembl chr 6:118,744,929...118,781,099
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G |
GRIN2A |
glutamate ionotropic receptor NMDA type subunit 2A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr16:8,682,169...9,105,581
Ensembl chr16:9,919,143...10,336,167
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G |
GRIP1 |
glutamate receptor interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr12:21,841,611...22,562,418
Ensembl chr12:22,744,177...23,069,480
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G |
HARS1 |
histidyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32333447 |
|
NCBI chr 5:136,038,575...136,056,400
Ensembl chr 5:142,154,552...142,172,371
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G |
HDAC4 |
histone deacetylase 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054
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G |
HES7 |
hes family bHLH transcription factor 7 |
|
ISO |
ClinVar Annotator: match by term: Progressive microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr17:43,530,919...43,537,999
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G |
HPRT1 |
hypoxanthine phosphoribosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:2323782 PMID:15571220 PMID:17027311 PMID:22157001 PMID:23975452 PMID:25481104 PMID:25741868 PMID:28492532 More...
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NCBI chr X:123,609,248...123,650,102
Ensembl chr X:133,916,681...133,948,197
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G |
HSPG2 |
heparan sulfate proteoglycan 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:21,014,951...21,129,937
Ensembl chr 1:21,979,504...22,053,400
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G |
IBA57 |
iron-sulfur cluster assembly factor IBA57 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:203,566,902...203,577,857
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G |
IFT122 |
intraflagellar transport 122 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:126,498,018...126,578,211
Ensembl chr 3:133,851,433...133,930,117
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G |
IFT140 |
intraflagellar transport 140 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr16:130,150...232,369
Ensembl chr16:1,566,824...1,658,884
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G |
IFT74 |
intraflagellar transport 74 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 9:26,802,459...26,912,292
Ensembl chr 9:27,415,565...27,514,558
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G |
IGF1 |
insulin like growth factor 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
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G |
IQSEC2 |
IQ motif and Sec7 domain ArfGEF 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr X:45,447,977...45,535,836
Ensembl chr X:53,557,563...53,644,737
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ITGB6 |
integrin subunit beta 6 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr2B:47,386,913...47,496,491
Ensembl chr2B:164,764,251...164,867,426
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JARID2 |
jumonji and AT-rich interaction domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 6:15,100,415...15,376,505
Ensembl chr 6:15,466,050...15,739,170
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KCNQ1 |
potassium voltage-gated channel subfamily Q member 1 |
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ISO |
ClinVar Annotator: match by term: Congenital microcephaly |
ClinVar |
PMID:1984130 PMID:2654361 PMID:15781747 PMID:15840476 PMID:19632626 PMID:19716085 PMID:19841300 PMID:20301308 PMID:22581653 PMID:22949429 PMID:23392653 PMID:24033266 PMID:24947509 PMID:25741868 PMID:25854863 PMID:26546361 PMID:27831900 PMID:28438721 PMID:28492532 PMID:31447099 PMID:32893267 PMID:34135346 PMID:34404389 PMID:34798354 PMID:35352813 PMID:36102233 More...
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NCBI chr11:2,469,750...2,874,467
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KIF11 |
kinesin family member 11 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr10:89,339,254...89,401,188
Ensembl chr10:92,852,786...92,914,440
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KIF1C |
kinesin family member 1C |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:5,046,488...5,073,220
Ensembl chr17:5,035,014...5,061,957
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KIF20B |
kinesin family member 20B |
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ISO |
OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 |
MouseDO |
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NCBI chr10:86,428,814...86,501,384
Ensembl chr10:89,968,651...90,041,998
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KIF23 |
kinesin family member 23 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:26539891 |
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NCBI chr15:48,364,891...48,399,038
Ensembl chr15:67,135,401...67,169,531
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KIF2A |
kinesin family member 2A |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:51,605,954...51,690,921
Ensembl chr 5:53,251,415...53,332,218
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KIF5C |
kinesin family member 5C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23603762 |
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NCBI chr2B:10,836,356...10,987,683
Ensembl chr2B:153,235,329...153,387,221
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KIFBP |
kinesin family binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15883926 |
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NCBI chr10:65,455,924...65,484,140
Ensembl chr10:67,989,492...68,017,898
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KMT2A |
lysine methyltransferase 2A |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr11:113,273,198...113,364,404
Ensembl chr11:117,204,820...117,290,100
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KMT2C |
lysine methyltransferase 2C |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:39013459 |
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NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043
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KMT2D |
lysine methyltransferase 2D |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:21671394 PMID:22126750 PMID:25741868 PMID:28492532 PMID:30107592 |
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NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661
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KNL1 |
kinetochore scaffold 1 |
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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 chr15:19,539,264...19,609,593
Ensembl chr15:37,801,705...37,860,858
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KPNA5 |
karyopherin subunit alpha 5 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:114,488,850...114,550,061
Ensembl chr 6:118,641,551...118,684,486
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LARS1 |
leucyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:141,562,798...141,631,388
Ensembl chr 5:147,578,042...147,646,834
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LDLRAD2 |
low density lipoprotein receptor class A domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 1:21,005,437...21,014,421
Ensembl chr 1:21,969,991...21,980,470
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LINS1 |
lines homolog 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr15:79,293,426...79,328,691
Ensembl chr15:98,583,906...98,616,407
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LMNB1 |
lamin B1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 5:122,179,513...122,240,848
Ensembl chr 5:127,949,457...128,010,721
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LOC100988698 |
mitochondrial chaperone BCS1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:22277967 PMID:25741868 PMID:28492532 PMID:31316545 PMID:32581362 PMID:34650211 More...
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NCBI chr2B:105,917,605...105,921,427
Ensembl chr2B:224,513,223...224,516,856
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LOC100992172 |
SBDS ribosome maturation factor |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 PMID:15942154 PMID:17478638 PMID:19148133 PMID:20301722 PMID:21695142 PMID:22934832 PMID:22935661 PMID:24033266 PMID:24388329 PMID:24629175 PMID:25525159 PMID:25729736 PMID:25741868 PMID:26822237 PMID:27290639 PMID:27418648 PMID:32150944 PMID:32581362 PMID:34758064 PMID:36835434 More...
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NCBI chr 7:59,090,343...59,098,332
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LRP5 |
LDL receptor related protein 5 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817
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MAK16 |
MAK16 homolog |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 8:32,799,512...32,816,149
Ensembl chr 8:29,986,247...30,002,800
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MAN1A1 |
mannosidase alpha class 1A member 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:116,984,842...117,157,623
Ensembl chr 6:121,127,656...121,298,196
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MASP1 |
MBL associated serine protease 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 3:184,241,611...184,317,272
Ensembl chr 3:192,707,784...192,782,196
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MBD5 |
methyl-CpG binding domain protein 5 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr2B:11,347,218...11,842,644
Ensembl chr2B:152,754,368...152,874,042
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MCM4 |
minichromosome maintenance complex component 4 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:44,387,529...44,404,773
Ensembl chr 8:41,778,247...41,794,783
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MCM9 |
minichromosome maintenance 9 homologous recombination repair factor |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:116,620,188...116,743,435
Ensembl chr 6:120,763,329...120,881,865
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MCPH1 |
microcephalin 1 |
no_association |
ISO |
DNA:SNP: :c.940G>C (g.37995G>C) (human) ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive |
RGD ClinVar |
PMID:19267414 PMID:25741868 |
RGD:13204744 |
NCBI chr 8:624,877...877,839
Ensembl chr 8:6,409,072...6,646,394
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G |
MECP2 |
methyl-CpG binding protein 2 |
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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:27929079 PMID:28492532 PMID:32581362 PMID:34837432 More...
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NCBI chr X:143,571,864...143,647,192
Ensembl chr X:153,465,204...153,527,854
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MED17 |
mediator complex subunit 17 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:88,806,209...88,835,138
Ensembl chr11:92,292,947...92,321,913
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MEFV |
MEFV innate immunity regulator, pyrin |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 PMID:10879615 PMID:11464248 PMID:11528510 PMID:11938447 PMID:11977178 PMID:15643295 PMID:15942916 PMID:16627024 PMID:16785446 PMID:16889173 PMID:18353061 PMID:19790133 PMID:20008920 PMID:20301405 PMID:21290976 PMID:21600797 PMID:22037353 PMID:23164758 PMID:23334425 PMID:23907647 PMID:24318677 PMID:24369413 PMID:25741868 PMID:27030597 PMID:28492532 PMID:29393966 PMID:30171907 PMID:31088470 PMID:33223529 More...
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NCBI chr16:2,175,858...2,191,056
Ensembl chr16:3,353,666...3,368,970
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MFN2 |
mitofusin 2 |
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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:31130284 PMID:31188717 PMID:31832804 PMID:32376792 PMID:33475540 PMID:33841295 PMID:34366782 PMID:35938991 More...
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NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
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MFSD2A |
MFSD2 lysolipid transporter A, lysophospholipid |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 1:39,244,438...39,259,156
Ensembl chr 1:40,569,706...40,584,438
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MIPEP |
mitochondrial intermediate peptidase |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr13:5,040,237...5,207,674
Ensembl chr13:23,334,267...23,500,582
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G |
MKS1 |
MKS transition zone complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24608809 PMID:25741868 PMID:28492532 PMID:30076350 PMID:33584783 |
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NCBI chr17:52,281,443...52,295,919
Ensembl chr17:57,137,254...57,151,328
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G |
MTFMT |
mitochondrial methionyl-tRNA formyltransferase |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:43,942,227...43,969,182
Ensembl chr15:62,225,620...62,253,612
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NACC1 |
nucleus accumbens associated 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:12,679,837...12,704,470
Ensembl chr19:13,412,462...13,439,679
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G |
NAT8L |
N-acetyltransferase 8 like |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 4:2,201,326...2,211,302
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NBN |
nibrin |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 PMID:10848790 PMID:10852373 PMID:11093281 PMID:11279524 PMID:11953735 PMID:12123493 PMID:12505263 PMID:12833396 PMID:12845677 PMID:14973119 PMID:15185344 PMID:15279809 PMID:16033915 PMID:16544999 PMID:17103455 PMID:18606567 PMID:18940477 PMID:19635536 PMID:19908051 PMID:20444919 PMID:22131123 PMID:22293976 PMID:22373003 PMID:22491912 PMID:22941933 PMID:23317186 PMID:24033266 PMID:24113799 PMID:25485873 PMID:25741868 PMID:25980754 PMID:26083025 PMID:26467025 PMID:26822949 PMID:26845104 PMID:27150568 PMID:27616075 PMID:28492532 PMID:28873162 PMID:29368341 PMID:29419426 PMID:30426508 PMID:31173646 PMID:32295079 PMID:33050356 PMID:33471974 PMID:33471991 PMID:33840814 PMID:34072463 PMID:34072659 PMID:34544220 PMID:35309086 More...
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NCBI chr 8:86,622,797...86,674,202
Ensembl chr 8:88,575,198...88,626,307
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NEPRO |
nucleolus and neural progenitor protein |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 3:110,152,415...110,169,736
Ensembl chr 3:117,076,649...117,094,041
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NF1 |
neurofibromin 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30308447 |
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NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295
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NPAS4 |
neuronal PAS domain protein 4 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr11:61,778,329...61,784,010
Ensembl chr11:65,103,097...65,108,825
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NSD1 |
nuclear receptor binding SET domain protein 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 5:172,431,968...172,602,174
Ensembl chr 5:179,499,865...179,666,351
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G |
NSD2 |
nuclear receptor binding SET domain protein 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 4:2,009,276...2,119,182
Ensembl chr 4:1,945,307...2,027,425
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NT5C2 |
5'-nucleotidase, cytosolic II |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:99,687,366...99,790,744
Ensembl chr10:103,148,578...103,251,513
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NUP188 |
nucleoporin 188 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:32275884 |
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NCBI chr 9:100,069,656...100,130,521
Ensembl chr 9:128,733,780...128,791,252
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G |
NUP214 |
nucleoporin 214 |
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ISO |
ClinVar Annotator: match by term: Progressive microcephaly |
ClinVar |
PMID:25741868 PMID:31178128 |
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NCBI chr 9:102,246,575...102,355,291
Ensembl chr 9:130,893,110...131,001,305
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G |
NUS1 |
NUS1 dehydrodolichyl diphosphate synthase subunit |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 PMID:25741868 |
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NCBI chr 6:115,486,422...115,521,317
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G |
ORC1 |
origin recognition complex subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21358633 |
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NCBI chr 1:51,630,344...51,666,327
Ensembl chr 1:53,238,377...53,273,653
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G |
OTX2 |
orthodenticle homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:19965921 PMID:25741868 PMID:28492532 |
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NCBI chr14:37,370,926...37,381,610
Ensembl chr14:55,641,349...55,651,012
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G |
PAK3 |
p21 (RAC1) activated kinase 3 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
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NCBI chr X:100,060,647...100,345,491
Ensembl chr X:110,672,664...110,797,992
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G |
PCLO |
piccolo presynaptic cytomatrix protein |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:74,714,364...75,126,518
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G |
PCNT |
pericentrin |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr21:32,665,361...32,741,592
Ensembl chr21:45,914,665...46,042,990
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G |
PDGFRB |
platelet derived growth factor receptor beta |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530
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G |
PDZD4 |
PDZ domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
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NCBI chr X:143,352,944...143,381,428
Ensembl chr X:153,240,182...153,267,874
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G |
PEX1 |
peroxisomal biogenesis factor 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:84,484,965...84,526,309
Ensembl chr 7:98,081,021...98,122,335
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G |
PEX16 |
peroxisomal biogenesis factor 16 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:45,864,220...45,872,263
Ensembl chr11:46,355,950...46,364,543
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G |
PEX5 |
peroxisomal biogenesis factor 5 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32901917 PMID:33584783 PMID:35346031 |
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NCBI chr12:7,318,637...7,340,428
Ensembl chr12:7,235,049...7,255,815
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G |
PLEKHG2 |
pleckstrin homology and RhoGEF domain containing G2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr19:36,510,855...36,526,623
Ensembl chr19:45,058,562...45,071,940
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G |
PLK4 |
polo like kinase 4 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 4:120,044,423...120,062,544
Ensembl chr 4:131,349,562...131,371,054
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G |
PLN |
phospholamban |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:116,357,335...116,370,382
Ensembl chr 6:120,509,510...120,509,668
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G |
PNKP |
polynucleotide kinase 3'-phosphatase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20118933 |
|
NCBI chr19:46,874,216...46,880,954
Ensembl chr19:55,790,048...55,796,762
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G |
POC1A |
POC1 centriolar protein A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:52,016,372...52,096,073
Ensembl chr 3:53,245,162...53,324,579
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|
G |
POLG |
DNA polymerase gamma, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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|
G |
POLK |
DNA polymerase kappa |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:39,700,659...39,788,727
Ensembl chr 5:40,311,526...40,401,003
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G |
PPIL1 |
peptidylprolyl isomerase like 1 |
|
ISO |
|
MouseDO |
|
|
NCBI chr 6:36,417,086...36,437,259
Ensembl chr 6:37,612,724...37,632,942
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|
G |
PQBP1 |
polyglutamine binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14634649 PMID:15024694 PMID:16740914 |
|
NCBI chr X:41,188,244...41,200,312
Ensembl chr X:49,053,030...49,058,585
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|
G |
PRDM16 |
PR/SET domain 16 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:1,730,122...2,100,636
Ensembl chr 1:2,981,667...3,234,251
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|
G |
PRKDC |
protein kinase, DNA-activated, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,201,391...44,386,803
Ensembl chr 8:41,593,029...41,778,299
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|
G |
PSAT1 |
phosphoserine aminotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32077105 PMID:34089226 |
|
NCBI chr 9:46,517,253...46,550,018
Ensembl chr 9:77,147,493...77,180,439
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|
G |
PTDSS1 |
phosphatidylserine synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:92,886,918...92,959,611
Ensembl chr 8:95,084,103...95,156,104
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|
G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:11704759 PMID:11992261 PMID:12717436 PMID:14644997 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:21533187 PMID:22315187 PMID:23584145 PMID:24033266 PMID:24628801 PMID:24935154 PMID:25741868 PMID:26467025 PMID:26918529 PMID:28363362 PMID:28492532 PMID:29907801 PMID:30311386 PMID:30325180 PMID:30410095 PMID:30417923 PMID:31219622 PMID:31560489 PMID:32164556 PMID:32581362 PMID:33726816 More...
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NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
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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 |
|
NCBI chr17:76,337,991...76,348,207
Ensembl chr17:82,040,824...82,045,686
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|
G |
PYCR2 |
pyrroline-5-carboxylate reductase 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:201,381,270...201,385,703
Ensembl chr 1:206,381,539...206,386,002
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|
G |
QARS1 |
glutaminyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30755392 PMID:31618474 |
|
NCBI chr 3:49,020,310...49,029,443
Ensembl chr 3:50,100,216...50,125,112
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|
G |
RAB11A |
RAB11A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Congenital microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr15:44,810,880...44,833,438
Ensembl chr15:63,088,084...63,108,077
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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 chr 1:195,720,895...195,842,619
Ensembl chr 1:200,757,097...200,878,819
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|
G |
RAD51C |
RAD51 paralog C |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32566746 PMID:32980694 PMID:33309985 |
|
NCBI chr17:52,769,446...52,808,467
Ensembl chr17:57,621,552...57,660,701
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G |
RAG1 |
recombination activating 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr11:36,483,697...36,546,242
Ensembl chr11:36,412,420...36,422,904
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|
G |
RBBP8 |
RB binding protein 8, endonuclease |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr18:16,181,652...16,274,597
Ensembl chr18:19,811,989...19,903,522
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|
G |
RBM28 |
RNA binding motif protein 28 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:120,211,198...120,335,079
Ensembl chr 7:132,955,078...132,988,576
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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 |
|
NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331
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|
G |
RFX6 |
regulatory factor X6 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
|
NCBI chr 6:114,686,132...114,741,072
Ensembl chr 6:118,828,973...118,883,884
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|
G |
RFX7 |
regulatory factor X7 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr15:35,057,195...35,211,897
Ensembl chr15:53,376,869...53,527,541
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|
G |
RNF17 |
ring finger protein 17 |
|
ISO |
ClinVar Annotator: match by term: Primary Microcephaly, Recessive |
ClinVar |
PMID:25741868 |
|
NCBI chr13:6,056,496...6,172,231
Ensembl chr13:24,346,898...24,460,945
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|
G |
ROS1 |
ROS proto-oncogene 1, receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
|
NCBI chr 6:115,095,753...115,234,525
Ensembl chr 6:119,238,419...119,376,053
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|
G |
RPGRIP1 |
RPGR interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr14:2,105,703...2,169,362
Ensembl chr14:20,185,236...20,247,064
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|
G |
RPGRIP1L |
RPGRIP1 like |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174
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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 chr 6:6,945,205...7,089,757
Ensembl chr 6:7,257,875...7,356,544
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|
G |
RSPH4A |
radial spoke head component 4A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
|
NCBI chr 6:114,423,322...114,441,199
Ensembl chr 6:118,568,907...118,585,812
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|
G |
RTEL1 |
regulator of telomere elongation helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
Ensembl chr20:61,581,331...61,618,718
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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 |
|
NCBI chr18:63,381,953...63,584,937
Ensembl chr18:66,674,597...66,874,104
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|
G |
RWDD1 |
RWD domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
|
NCBI chr 6:114,379,178...114,401,570
Ensembl chr 6:118,524,052...118,546,373
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G |
SALL1 |
spalt like transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr16:31,396,399...31,412,753
Ensembl chr16:50,274,090...50,284,819
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|
G |
SAMD9L |
sterile alpha motif domain containing 9 like |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 7:85,086,661...85,104,983
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|
G |
SBF1 |
SET binding factor 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:23749797 PMID:25741868 PMID:28492532 |
|
NCBI chr22:30,691,976...30,723,128
Ensembl chr22:49,676,467...49,704,633
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G |
SCAMP4 |
secretory carrier membrane protein 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr19:914,220...925,244
Ensembl chr19:1,893,577...1,904,452
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G |
SCARF2 |
scavenger receptor class F member 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
|
|
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 chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
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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 chr17:58,034,146...58,066,644
Ensembl chr17:63,128,550...63,161,043
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|
G |
SCN9A |
sodium voltage-gated channel alpha subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013
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G |
SCRIB |
scribble planar cell polarity protein |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:140,544,797...140,571,078
Ensembl chr 8:143,557,722...143,582,353
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G |
SEC24C |
SEC24 homolog C, COPII coat complex component |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr10:70,267,194...70,295,116
Ensembl chr10:72,943,116...72,968,027
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|
G |
SETD5 |
SET domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306
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|
G |
SIM1 |
SIM bHLH transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:98,221,476...98,301,215
Ensembl chr 6:102,104,783...102,181,062
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|
G |
SIN3A |
SIN3 transcription regulator family member A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27399968 |
|
NCBI chr15:54,285,587...54,371,376
Ensembl chr15:73,881,500...73,966,506
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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 chr20:42,359,005...42,397,412
Ensembl chr20:43,445,182...43,483,132
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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 chr17:6,721,620...6,751,840
Ensembl chr17:6,709,647...6,738,683
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|
G |
SLC1A4 |
solute carrier family 1 member 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr2A:65,051,025...65,086,917
Ensembl chr2A:66,176,925...66,209,615
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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 chr17:69,220,073...69,237,067
Ensembl chr17:74,773,341...74,789,699
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|
G |
SLC2A1 |
solute carrier family 2 member 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:10980529 PMID:20129935 PMID:21832227 PMID:25326635 PMID:25741868 PMID:26193382 PMID:26216499 PMID:28492532 PMID:32581362 More...
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NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143
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|
G |
SLC35F1 |
solute carrier family 35 member F1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
|
NCBI chr 6:115,718,178...116,127,742
Ensembl chr 6:120,108,341...120,268,465
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|
G |
SLX4 |
SLX4 structure-specific endonuclease subunit |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr16:2,502,334...2,532,172
Ensembl chr16:3,678,018...3,707,842
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G |
SMARCA2 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409
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|
G |
SMARCA4 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952
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G |
SMARCAL1 |
SNF2 related chromatin remodeling annealing helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital microcephaly |
ClinVar |
PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 PMID:29127259 More...
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NCBI chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258
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|
G |
SMC1A |
structural maintenance of chromosomes 1A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:17273969 PMID:19701948 PMID:24124034 PMID:25125236 PMID:25741868 PMID:26358754 PMID:28425213 PMID:28492532 PMID:28548707 PMID:33584783 More...
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NCBI chr X:45,576,100...45,637,314
Ensembl chr X:53,697,154...53,745,636
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G |
SMO |
smoothened, frizzled class receptor |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048
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G |
SNAP25 |
synaptosome associated protein 25 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:33299146 |
|
NCBI chr20:10,164,236...10,252,856
Ensembl chr20:10,218,358...10,252,841
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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 chr 5:132,372,283...132,890,168
Ensembl chr 5:138,512,523...138,797,416
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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 9:99,674,819...99,755,973
Ensembl chr 9:128,341,739...128,422,971
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|
G |
SPTLC1 |
serine palmitoyltransferase long chain base subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:63,087,798...63,174,977
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|
G |
SRCAP |
Snf2 related CREBBP activator protein |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr16:24,229,869...24,271,427
Ensembl chr16:31,065,964...31,106,312
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|
G |
STAMBP |
STAM binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23542699 |
|
NCBI chr2A:73,900,128...73,936,571
Ensembl chr2A:75,410,434...75,451,086
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G |
STIL |
STIL centriolar assembly protein |
|
ISO |
ClinVar Annotator: match by term: Primary Microcephaly, Recessive |
ClinVar |
|
|
NCBI chr 1:46,551,592...46,639,668
Ensembl chr 1:48,072,728...48,137,071
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|
G |
STT3A |
STT3 oligosaccharyltransferase complex catalytic subunit A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr11:120,412,488...120,440,713
Ensembl chr11:124,325,762...124,353,596
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|
G |
STXBP1 |
syntaxin binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:98,731,527...98,811,608
Ensembl chr 9:127,434,080...127,486,152
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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 1:42,105,405...42,115,721
Ensembl chr 1:43,482,870...43,492,577
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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 8:116,421,520...116,523,138
Ensembl chr 8:119,170,327...119,271,405
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|
G |
TAF8 |
TATA-box binding protein associated factor 8 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:29648665 PMID:35759269 |
|
NCBI chr 6:41,631,483...41,672,988
Ensembl chr 6:42,933,107...42,978,271
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|
G |
TAT |
tyrosine aminotransferase |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:53,434,028...53,443,624
Ensembl chr16:71,404,399...71,413,886
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G |
TBC1D32 |
TBC1 domain family member 32 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 6:118,884,928...119,139,138
Ensembl chr 6:123,022,008...123,273,810
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G |
TBCD |
tubulin folding cofactor D |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27666370 PMID:27666374 |
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NCBI chr17:77,170,966...77,371,078
Ensembl chr17:82,971,613...83,158,223
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G |
TBCE |
tubulin folding cofactor E |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:210,881,078...211,008,686
Ensembl chr 1:215,929,658...216,020,613
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G |
TBL2 |
transducin beta like 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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Ensembl chr 7:80,721,616...80,730,685
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G |
TBX2 |
T-box transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr17:55,501,932...55,511,537
Ensembl chr17:60,622,098...60,630,189
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G |
TCF4 |
transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:18728071 PMID:21671391 PMID:22045651 PMID:22460224 PMID:25741868 PMID:28492532 PMID:28708303 PMID:29655203 PMID:29695756 PMID:32581362 More...
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NCBI chr18:48,603,069...48,969,010
Ensembl chr18:51,938,357...52,352,030
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G |
TCOF1 |
treacle ribosome biogenesis factor 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:145,781,915...145,824,312
Ensembl chr 5:151,786,944...151,825,549
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G |
TCTN2 |
tectonic family member 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:121,256,675...121,293,997
Ensembl chr12:125,482,294...125,518,903
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G |
TECPR2 |
tectonin beta-propeller repeat containing 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr14:82,984,313...83,120,853
Ensembl chr14:102,814,542...102,932,587
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G |
TELO2 |
telomere maintenance 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr16:112,856...130,175
Ensembl chr16:1,548,212...1,566,337
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G |
TERT |
telomerase reverse transcriptase |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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Ensembl chr 5:1,300,960...1,338,872
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G |
TFAP2C |
transcription factor AP-2 gamma |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr20:52,966,907...52,981,024
Ensembl chr20:54,255,489...54,265,432
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G |
TMEM67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 8:90,378,623...90,442,904
Ensembl chr 8:92,324,402...92,387,437
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G |
TNNT3 |
troponin T3, fast skeletal type |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:1,936,614...1,955,784
Ensembl chr11:1,968,184...1,987,849
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G |
TRAIP |
TRAF interacting protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26595769 |
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NCBI chr 3:49,760,528...49,789,637
Ensembl chr 3:50,996,647...51,025,241
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G |
TRAPPC3L |
trafficking protein particle complex subunit 3L |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:114,303,027...114,355,958
Ensembl chr 6:118,449,441...118,498,836
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G |
TRIO |
trio Rho guanine nucleotide exchange factor |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:32581362 |
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NCBI chr 5:14,448,259...14,814,875
Ensembl chr 5:14,423,780...14,654,124
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G |
TRPS1 |
transcriptional repressor GATA binding 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 8:112,079,147...112,339,567
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G |
TSEN2 |
tRNA splicing endonuclease subunit 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18711368 |
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NCBI chr 3:12,410,885...12,463,932
Ensembl chr 3:12,759,375...12,800,201
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G |
TSEN34 |
tRNA splicing endonuclease subunit 34 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18711368 |
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NCBI chr19:51,121,560...51,125,768
Ensembl chr19:59,964,174...59,968,453
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G |
TSEN54 |
tRNA splicing endonuclease subunit 54 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
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 chr17:69,465,488...69,474,667
Ensembl chr17:75,017,351...75,025,166
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G |
TTI2 |
TELO2 interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 8:32,813,830...32,828,134
Ensembl chr 8:30,000,487...30,014,742
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G |
TUBA8 |
tubulin alpha 8 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31481326 |
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NCBI chr22:1,541,154...1,561,852
Ensembl chr22:16,936,405...16,989,730
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G |
TUBB |
tubulin beta class I |
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ISO |
OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 |
MouseDO |
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NCBI chr 6:30,465,367...30,470,451
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G |
TUBB4A |
tubulin beta 4A class IVa |
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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 chr19:5,521,425...5,529,958
Ensembl chr19:6,441,323...6,451,785
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G |
TUBG1 |
tubulin gamma 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23603762 |
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NCBI chr17:14,701,795...14,707,404
Ensembl chr17:14,925,451...14,931,340
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G |
TUBGCP5 |
tubulin gamma complex component 5 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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Ensembl chr15:20,403,757...20,444,851
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G |
TUBGCP6 |
tubulin gamma complex component 6 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr22:30,446,242...30,473,635
Ensembl chr22:49,446,405...49,472,463
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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 |
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NCBI chr15:21,899,611...22,064,606
Ensembl chr15:40,060,111...40,221,725
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G |
UFSP2 |
UFM1 specific peptidase 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33473208 |
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NCBI chr 4:177,562,642...177,589,312
Ensembl chr 4:189,779,242...189,805,572
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G |
UNC80 |
unc-80 homolog, NALCN channel complex subunit |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr2B:97,029,102...97,257,181
Ensembl chr2B:215,434,343...215,660,423
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G |
VARS1 |
valyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:30275004 |
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NCBI chr 6:31,438,663...31,456,926
Ensembl chr 6:32,325,931...32,343,276
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G |
VGLL2 |
vestigial like family member 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:115,073,919...115,082,212
Ensembl chr 6:119,215,683...119,223,541
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G |
VLDLR |
very low density lipoprotein receptor |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 9:2,428,639...2,463,796
Ensembl chr 9:2,621,199...2,653,980
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G |
VPS13B |
vacuolar protein sorting 13 homolog B |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:95,659,443...96,525,316
Ensembl chr 8:97,860,720...98,698,271
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G |
VPS33B |
VPS33B late endosome and lysosome associated |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:69,691,717...69,715,617
Ensembl chr15:88,888,093...88,912,327
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G |
VPS53 |
VPS53 subunit of GARP complex |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:400,048...576,119
Ensembl chr17:414,782...604,705
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G |
WDFY3 |
WD repeat and FYVE domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 4:39,215,474...39,511,870
Ensembl chr 4:45,170,700...45,361,599
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G |
WDR11 |
WD repeat domain 11 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:34413497 |
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NCBI chr10:117,430,788...117,488,778
Ensembl chr10:120,845,695...120,903,540
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G |
WDR62 |
WD repeat domain 62 |
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ISO |
ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive |
ClinVar |
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NCBI chr19:32,973,725...33,030,297
Ensembl chr19:41,721,281...41,777,038
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G |
WDR81 |
WD repeat domain 81 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:32581362 |
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NCBI chr17:1,708,119...1,722,405
Ensembl chr17:1,594,162...1,616,138
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G |
XIRP1 |
xin actin binding repeat containing 1 |
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ISO |
ClinVar Annotator: match by term: Classical primary microcephaly |
ClinVar |
PMID:25558065 PMID:25741868 |
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NCBI chr 3:39,079,712...39,089,098
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G |
YME1L1 |
YME1 like 1 ATPase |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr10:27,220,951...27,263,841
Ensembl chr10:27,584,099...27,626,453
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G |
YWHAG |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31926053 |
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NCBI chr 7:67,661,589...67,693,814
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G |
ZC4H2 |
zinc finger C4H2-type containing |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26056227 |
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NCBI chr X:54,043,329...54,162,351
Ensembl chr X:64,121,109...64,182,331
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G |
ZNF276 |
zinc finger protein 276 |
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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 chr16:70,478,127...70,498,672
Ensembl chr16:90,147,474...90,165,192
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G |
ZNF668 |
zinc finger protein 668 |
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ISO |
ClinVar Annotator: match by term: Progressive microcephaly |
ClinVar |
PMID:26633546 PMID:34313816 |
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NCBI chr16:23,893,617...23,906,552
Ensembl chr16:31,425,412...31,442,494
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G |
ZUP1 |
zinc finger containing ubiquitin peptidase 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:114,443,844...114,477,220
Ensembl chr 6:118,598,031...118,621,081
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G |
ANKRD28 |
ankyrin repeat domain 28 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:15,591,890...15,785,997
Ensembl chr 3:15,932,020...16,057,647
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G |
BTD |
biotinidase |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:15,526,339...15,575,475
Ensembl chr 3:15,863,489...15,907,497
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G |
C2H3orf20 |
chromosome 2 C3orf20 homolog |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:14,600,078...14,695,130
Ensembl chr 3:14,936,746...15,034,701
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G |
CAPN7 |
calpain 7 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:15,131,774...15,177,836
Ensembl chr 3:15,468,890...15,515,528
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G |
CCDC174 |
coiled-coil domain containing 174 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:14,574,082...14,595,025
Ensembl chr 3:14,913,328...14,934,261
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G |
CHCHD4 |
coiled-coil-helix-coiled-coil-helix domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:14,030,410...14,043,233
Ensembl chr 3:14,370,854...14,383,660
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G |
COLQ |
collagen like tail subunit of asymmetric acetylcholinesterase |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:15,373,589...15,447,613
Ensembl chr 3:15,712,630...15,784,299
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G |
DAZL |
deleted in azoospermia like |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:16,514,327...16,625,601
Ensembl chr 3:16,851,158...16,862,963
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G |
DPH3 |
diphthamide biosynthesis 3 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:16,183,158...16,190,184
Ensembl chr 3:16,520,076...16,527,196
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G |
EAF1 |
ELL associated factor 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:15,353,459...15,368,579
Ensembl chr 3:15,689,745...15,705,300
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G |
EFHB |
EF-hand domain family member B |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:19,798,204...19,855,338
Ensembl chr 3:20,128,668...20,184,718
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G |
FBLN2 |
fibulin 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:13,469,679...13,558,241
Ensembl chr 3:13,812,462...13,900,332
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G |
FGD5 |
FYVE, RhoGEF and PH domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:14,732,712...14,856,251
Ensembl chr 3:15,072,214...15,195,608
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G |
GALNT15 |
polypeptide N-acetylgalactosaminyltransferase 15 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:16,099,794...16,152,941
Ensembl chr 3:16,436,838...16,494,038
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G |
GRIP2 |
glutamate receptor interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:14,411,825...14,525,388
Ensembl chr 3:14,756,638...14,804,952
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G |
HACL1 |
2-hydroxyacyl-CoA lyase 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:15,486,897...15,526,552
Ensembl chr 3:15,823,979...15,863,982
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G |
HDAC11 |
histone deacetylase 11 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:13,400,788...13,427,010
Ensembl chr 3:13,744,475...13,769,997
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G |
KAT2B |
lysine acetyltransferase 2B |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:19,956,067...20,070,637
Ensembl chr 3:20,286,865...20,400,770
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G |
KCNH8 |
potassium voltage-gated channel subfamily H member 8 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:19,063,663...19,461,752
Ensembl chr 3:19,498,421...19,787,890
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G |
LSM3 |
LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:14,097,035...14,165,942
Ensembl chr 3:14,437,497...14,456,726
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G |
METTL6 |
methyltransferase 6, tRNA N3-cytidine |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:15,306,890...15,353,505
Ensembl chr 3:15,643,545...15,690,238
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G |
MRPS25 |
mitochondrial ribosomal protein S25 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:14,934,006...14,989,899
Ensembl chr 3:15,313,061...15,328,594
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G |
NR2C2 |
nuclear receptor subfamily 2 group C member 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:14,869,292...14,973,977
Ensembl chr 3:15,220,110...15,306,242
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G |
NUP210 |
nucleoporin 210 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:13,236,064...13,339,807
Ensembl chr 3:13,581,763...13,664,011
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G |
OXNAD1 |
oxidoreductase NAD binding domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:16,190,264...16,277,168
Ensembl chr 3:16,527,259...16,584,621
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G |
PLCL2 |
phospholipase C like 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:16,736,430...17,015,531
Ensembl chr 3:17,154,500...17,351,287
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G |
PP2D1 |
protein phosphatase 2C like domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:19,903,905...19,930,536
Ensembl chr 3:20,233,831...20,261,322
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G |
RAB5A |
RAB5A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:19,866,110...19,903,701
Ensembl chr 3:20,197,067...20,234,579
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G |
RBSN |
rabenosyn, RAB effector |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:14,994,647...15,023,733
Ensembl chr 3:15,333,359...15,362,361
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G |
RFTN1 |
raftlin, lipid raft linker 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:16,241,255...16,441,402
Ensembl chr 3:16,578,092...16,778,464
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G |
SATB1 |
SATB homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:18,267,819...18,368,924
Ensembl chr 3:18,602,204...18,681,211
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G |
SETD5 |
SET domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:21681106 |
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NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306
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G |
SH3BP5 |
SH3 domain binding protein 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:15,180,369...15,257,951
Ensembl chr 3:15,517,447...15,594,971
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G |
SLC6A6 |
solute carrier family 6 member 6 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:14,323,251...14,411,949
Ensembl chr 3:14,663,955...14,752,326
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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 3:17,080,589...17,664,776
Ensembl chr 3:17,416,307...17,768,132
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G |
THUMPD3 |
THUMP domain 3 tRNA guanosine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:21681106 |
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NCBI chr 3:9,315,275...9,338,096
Ensembl chr 3:9,557,894...9,581,157
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G |
TMEM43 |
transmembrane protein 43 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:14,043,369...14,062,064
Ensembl chr 3:14,383,983...14,400,587
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G |
WNT7A |
Wnt family member 7A |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:13,733,487...13,797,189
Ensembl chr 3:14,077,839...14,138,386
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G |
XPC |
XPC complex subunit, DNA damage recognition and repair factor |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:14,063,499...14,097,023
Ensembl chr 3:14,403,958...14,437,377
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G |
DCPS |
decapping enzyme, scavenger |
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ISO |
ClinVar Annotator: match by term: Al-Raqad syndrome | ClinVar Annotator: match by term: DCPS-related condition |
OMIM ClinVar |
PMID:25701870 PMID:25712129 PMID:25741868 PMID:28492532 PMID:30289615 |
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NCBI chr11:121,119,720...121,159,513
Ensembl chr11:125,028,616...125,068,807
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G |
SLC25A19 |
solute carrier family 25 member 19 |
|
ISO |
ClinVar Annotator: match by term: Amish lethal microcephaly | ClinVar Annotator: match by term: Microcephaly, Amish type | ClinVar Annotator: match by term: SLC25A19-related condition | 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 chr17:69,220,073...69,237,067
Ensembl chr17:74,773,341...74,789,699
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G |
KAT6A |
lysine acetyltransferase 6A |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A syndrome | ClinVar Annotator: match by term: KAT6A-related condition | ClinVar Annotator: match by term: KAT6A-related neurodevelopmental disorder with multiple anomalies |
OMIM ClinVar |
PMID:17374998 PMID:23431171 PMID:25728775 PMID:25728777 PMID:25741868 PMID:26938784 PMID:27133397 PMID:28492532 PMID:30245513 PMID:31292255 PMID:32041641 PMID:33318932 PMID:34748993 PMID:35892268 PMID:38177409 More...
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NCBI chr 8:41,173,833...41,296,547
Ensembl chr 8:38,625,156...38,741,538
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G |
ASNS |
asparagine synthetase (glutamine-hydrolyzing) |
|
ISO |
ClinVar Annotator: match by term: ASNS DEFICIENCY | ClinVar Annotator: match by term: ASNS-related condition | ClinVar Annotator: match by term: Asparagine synthetase deficiency |
OMIM ClinVar |
PMID:16199547 PMID:24139043 PMID:25227173 PMID:25663424 PMID:25741868 PMID:25758715 PMID:26395554 PMID:27422383 PMID:27469131 PMID:27522229 PMID:27711071 PMID:28492532 PMID:28776279 PMID:29279279 PMID:29302074 PMID:29375865 PMID:29405484 PMID:30057589 PMID:30214071 PMID:30978478 PMID:31130284 PMID:31698190 PMID:32255274 PMID:32741967 PMID:32906196 PMID:33258288 PMID:33287870 PMID:34490615 PMID:34582790 PMID:34906502 PMID:35469797 PMID:36344539 PMID:36374791 PMID:38043418 More...
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NCBI chr 7:89,811,363...89,831,733
Ensembl chr 7:103,392,540...103,413,046
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G |
CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
|
ISO |
ClinVar Annotator: match by term: Asparagine synthetase deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
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G |
LMNB1 |
lamin B1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly 26, primary, autosomal dominant |
OMIM ClinVar |
PMID:25741868 PMID:32910914 PMID:33033404 |
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NCBI chr 5:122,179,513...122,240,848
Ensembl chr 5:127,949,457...128,010,721
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G |
LMNB2 |
lamin B2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly 27, primary, autosomal dominant |
ClinVar OMIM |
PMID:25741868 PMID:33033404 |
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NCBI chr19:1,440,462...1,469,601
Ensembl chr19:2,406,296...2,430,568
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G |
COPB1 |
COPI coat complex subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Baralle-Macken syndrome |
OMIM ClinVar |
PMID:25741868 PMID:33632302 |
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NCBI chr11:14,560,239...14,602,557
Ensembl chr11:14,251,699...14,293,850
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G |
MED25 |
mediator complex subunit 25 |
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ISO |
ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome |
OMIM ClinVar |
PMID:25488817 PMID:25527630 PMID:25741868 PMID:25792360 PMID:28170084 PMID:28492532 PMID:30039206 PMID:32324310 PMID:32371413 PMID:32376792 PMID:32816121 PMID:37091313 More...
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NCBI chr19:46,831,190...46,853,367
Ensembl chr19:55,747,722...55,765,942
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G |
FBN1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
ClinVar |
PMID:15241795 PMID:16571647 PMID:16905551 PMID:17701892 PMID:18435798 PMID:19293843 PMID:19349279 PMID:25741868 PMID:28492532 More...
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NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
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G |
THOC6 |
THO complex subunit 6 |
|
ISO |
ClinVar Annotator: match by term: THOC6-related condition | ClinVar Annotator: match by term: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
OMIM ClinVar |
PMID:16199547 PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 PMID:27102954 PMID:27295358 PMID:28492532 PMID:30238602 PMID:30476144 PMID:31421288 PMID:32790266 PMID:35426486 PMID:36900003 More...
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NCBI chr16:1,965,875...1,969,595
Ensembl chr16:3,138,229...3,141,876
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G |
AAGAB |
alpha and gamma adaptin binding protein |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:46,148,937...46,207,186
Ensembl chr15:64,419,994...64,477,586
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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 chr15:59,676,295...59,736,771
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G |
ABHD2 |
abhydrolase domain containing 2, acylglycerol lipase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
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NCBI chr15:67,780,453...67,891,454
Ensembl chr15:86,987,070...87,095,818
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G |
ACAN |
aggrecan |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
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NCBI chr15:67,492,494...67,563,265
Ensembl chr15:86,733,853...86,771,420
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G |
ACSBG1 |
acyl-CoA synthetase bubblegum family member 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:57,098,752...57,164,119
Ensembl chr15:76,064,937...76,128,835
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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 chr15:37,562,930...37,717,175
Ensembl chr15:55,873,606...56,027,188
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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 chr15:61,291,451...61,295,148
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G |
ADAMTSL3 |
ADAMTS like 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:61,567,731...61,953,255
Ensembl chr15:81,538,868...81,920,292
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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 chr15:51,669,462...51,702,439
Ensembl chr15:70,429,956...70,462,444
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G |
AEN |
apoptosis enhancing nuclease |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:67,237,871...67,321,808
Ensembl chr15:86,518,204...86,529,579
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G |
AFG2B |
AFG2 AAA ATPase homolog B |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:24,350,226...24,369,308
Ensembl chr15:42,681,127...42,699,801
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G |
AGBL1 |
AGBL carboxypeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:64,774,408...65,603,628
Ensembl chr15:84,048,348...84,938,150
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G |
AKAP13 |
A-kinase anchoring protein 13 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:64,076,422...64,438,109
Ensembl chr15:83,387,667...83,651,362
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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 chr15:36,925,443...37,038,288
Ensembl chr15:55,237,101...55,557,168
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G |
ALPK3 |
alpha kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:63,484,027...63,541,021
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G |
ANKDD1A |
ankyrin repeat and death domain containing 1A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:43,851,575...43,898,578
Ensembl chr15:62,137,207...62,181,984
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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 chr15:58,246,752...58,267,478
Ensembl chr15:77,220,348...77,221,955
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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 chr15:19,212,457...19,217,434
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G |
ANP32A |
acidic nuclear phosphoprotein 32 family member A |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:47,736,770...47,778,763
Ensembl chr15:66,502,285...66,511,637
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G |
ANPEP |
alanyl aminopeptidase, membrane |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
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NCBI chr15:68,479,349...68,509,238
Ensembl chr15:87,681,826...87,703,713
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G |
ANXA2 |
annexin A2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:39,322,303...39,371,565
Ensembl chr15:57,625,425...57,674,250
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G |
AP3B2 |
adaptor related protein complex 3 subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:62,888,359...62,938,758
Ensembl chr15:80,557,967...80,607,475
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G |
AP3S2 |
adaptor related protein complex 3 subunit sigma 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
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NCBI chr15:68,524,982...68,583,917
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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 chr15:29,857,818...29,957,158
Ensembl chr15:48,195,581...48,288,895
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G |
APH1B |
aph-1 homolog B, gamma-secretase subunit |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:42,224,593...42,256,202
Ensembl chr15:60,520,031...60,551,599
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G |
AQP9 |
aquaporin 9 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:37,107,061...37,154,887
Ensembl chr15:55,418,767...55,466,541
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G |
AQR |
aquarius intron-binding spliceosomal factor |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:13,774,234...13,891,046
Ensembl chr15:32,036,653...32,149,157
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G |
ARID3B |
AT-rich interaction domain 3B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:53,482,870...53,542,063
Ensembl chr15:73,104,984...73,159,422
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G |
ARIH1 |
ariadne RBR E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:51,423,132...51,534,278
Ensembl chr15:70,187,722...70,297,226
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G |
ARNT2 |
aryl hydrocarbon receptor nuclear translocator 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:59,376,993...59,573,925
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G |
ARPIN |
actin related protein 2/3 complex inhibitor |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
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G |
ARPP19 |
cAMP regulated phosphoprotein 19 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:31,488,156...31,510,404
Ensembl chr15:49,813,447...49,835,051
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G |
ATOSA |
atos homolog A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:31,522,297...31,620,560
Ensembl chr15:49,848,026...49,944,808
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G |
ATP8B4 |
ATPase phospholipid transporting 8B4 (putative) |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:28,803,848...29,060,526
Ensembl chr15:47,129,277...47,389,559
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G |
AVEN |
apoptosis and caspase activation inhibitor |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:12,379,221...12,574,147
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G |
B2M |
beta-2-microglobulin |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991
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G |
BAHD1 |
bromo adjacent homology domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,376,233...19,404,699
Ensembl chr15:37,630,476...37,657,918
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G |
BBS4 |
Bardet-Biedl syndrome 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:51,601,526...51,656,460
Ensembl chr15:70,362,261...70,416,964
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G |
BCL2A1 |
BCL2 related protein A1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:58,925,853...58,935,122
Ensembl chr15:77,882,940...77,893,628
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G |
BCL2L10 |
BCL2 like 10 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,049,509...31,057,273
Ensembl chr15:49,376,576...49,380,109
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G |
BLM |
BLM RecQ like helicase |
|
ISO |
ClinVar Annotator: match by term: BLM-related condition | ClinVar Annotator: match by term: Bloom syndrome | ClinVar Annotator: match by term: Bloom-Torre-Machacek syndrome |
OMIM ClinVar |
PMID:2678854 PMID:7585968 PMID:7799980 PMID:9285778 PMID:9388480 PMID:9536098 PMID:9758720 PMID:9837821 PMID:9840919 PMID:10069810 PMID:10090915 PMID:10569803 PMID:10734115 PMID:10812332 PMID:10965492 PMID:11281456 PMID:11399766 PMID:12242432 PMID:12444098 PMID:15579905 PMID:15609317 PMID:15930159 PMID:15990871 PMID:16199547 PMID:16876111 PMID:17407155 PMID:17576681 PMID:17878217 PMID:18414213 PMID:18471088 PMID:19763152 PMID:19917125 PMID:20301572 PMID:20307669 PMID:20639533 PMID:20980836 PMID:21113733 PMID:21815139 PMID:22406018 PMID:22582397 PMID:22657828 PMID:22829774 PMID:22885301 PMID:23028338 PMID:23129629 PMID:23161009 PMID:23225144 PMID:23276657 PMID:23292937 PMID:23552953 PMID:23928670 PMID:23960188 PMID:24033266 PMID:24096176 PMID:24118499 PMID:24448499 PMID:24728327 PMID:24733792 PMID:24816114 PMID:24932421 PMID:25111073 PMID:25129257 PMID:25182961 PMID:25186949 PMID:25231023 PMID:25399228 PMID:25525159 PMID:25619955 PMID:25637381 PMID:25640679 PMID:25653542 PMID:25741868 PMID:25741877 PMID:25794620 PMID:25850943 PMID:25901030 PMID:25940061 PMID:26028025 PMID:26247052 PMID:26296701 PMID:26340805 PMID:26358404 PMID:26467025 PMID:26503572 PMID:26556299 PMID:26580448 PMID:26585945 PMID:26681682 PMID:26689913 PMID:26786923 PMID:26788541 PMID:26822949 PMID:26979391 PMID:27124789 PMID:27153395 PMID:27175728 PMID:27270107 PMID:27356891 PMID:27516001 PMID:27657136 PMID:27876123 PMID:27959697 PMID:28125078 PMID:28195393 PMID:28232778 PMID:28464862 PMID:28492532 PMID:28611551 PMID:28724667 PMID:28805986 PMID:28873162 PMID:28877996 PMID:28944238 PMID:29098565 PMID:29212164 PMID:29338689 PMID:29439820 PMID:29453417 PMID:29478780 PMID:29484706 PMID:29625052 PMID:29641532 PMID:29659569 PMID:29753700 PMID:29785153 PMID:29970176 PMID:30044990 PMID:30082870 PMID:30138938 PMID:30152102 PMID:30214071 PMID:30214240 PMID:30256826 PMID:30262796 PMID:30306255 PMID:30441849 PMID:30502717 PMID:30541756 PMID:30612635 PMID:30613976 PMID:30666157 PMID:30840646 PMID:30871259 PMID:30995915 PMID:31054147 PMID:31118792 PMID:31159747 PMID:31212687 PMID:31218271 PMID:31253795 PMID:31263571 PMID:31360874 PMID:31562900 PMID:31589614 PMID:31681265 PMID:31780696 PMID:31816118 PMID:31844177 PMID:31937788 PMID:31942411 PMID:31956452 PMID:31970404 PMID:32029870 PMID:32073752 PMID:32107087 PMID:32283892 PMID:32449991 PMID:32566746 PMID:32595206 PMID:32655338 PMID:32704157 PMID:32860008 PMID:32868804 PMID:32923906 PMID:33073370 PMID:33077847 PMID:33193653 PMID:33219493 PMID:33318203 PMID:33332384 PMID:33436027 PMID:33528079 PMID:33558524 PMID:33563768 PMID:33606809 PMID:33647232 PMID:33832920 PMID:34117267 PMID:34177791 PMID:34288589 PMID:34308104 PMID:34497584 PMID:34512202 PMID:34538859 PMID:34767783 PMID:35218564 PMID:35264596 PMID:35273153 PMID:35309086 PMID:35314707 PMID:35892882 PMID:35957908 PMID:35969835 PMID:36232793 PMID:36315097 PMID:36732629 PMID:37316882 More...
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NCBI chr15:69,407,248...69,508,070
Ensembl chr15:88,607,157...88,707,864
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BLOC1S6 |
biogenesis of lysosomal organelles complex 1 subunit 6 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:24,469,225...24,553,163
Ensembl chr15:42,862,112...42,882,316
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BMF |
Bcl2 modifying factor |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:19,026,053...19,047,008
Ensembl chr15:37,281,655...37,302,075
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BNC1 |
basonuclin zinc finger protein 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:62,316,229...62,345,123
Ensembl chr15:81,146,417...81,174,007
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BNIP2 |
BCL2 interacting protein 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:38,628,798...38,659,161
Ensembl chr15:56,933,697...56,964,044
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BTBD1 |
BTB domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:62,535,893...62,589,656
Ensembl chr15:80,904,436...80,957,494
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BUB1B |
BUB1 mitotic checkpoint serine/threonine kinase B |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:19,095,383...19,155,557
Ensembl chr15:37,350,826...37,410,648
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C16H15orf39 |
chromosome 16 C15orf39 homolog |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:54,142,547...54,152,833
Ensembl chr15:73,753,921...73,767,224
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C16H15orf40 |
chromosome 16 C15orf40 homolog |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:62,594,213...62,601,425
Ensembl chr15:80,879,368...80,899,648
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C16H15orf48 |
chromosome 16 C15orf48 homolog |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:24,378,440...24,381,280
Ensembl chr15:42,709,122...42,727,209
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C16H15orf61 |
chromosome 16 C15orf61 homolog |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:46,471,604...46,477,100
Ensembl chr15:64,740,039...64,746,144
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C16H15orf62 |
chromosome 16 C15orf62 homolog |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:19,709,049...19,713,564
Ensembl chr15:37,963,669...37,964,196
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C2CD4A |
C2 calcium dependent domain containing 4A |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:41,020,652...41,031,100
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C2CD4B |
C2 calcium dependent domain containing 4B |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:41,113,568...41,125,725
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CA12 |
carbonic anhydrase 12 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:42,270,188...42,328,952
Ensembl chr15:60,565,592...60,624,008
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CALML4 |
calmodulin like 4 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:47,140,272...47,155,700
Ensembl chr15:65,409,732...65,424,852
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CATSPER2 |
cation channel sperm associated 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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Ensembl chr15:40,769,539...40,795,723
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CCDC32 |
coiled-coil domain containing 32 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:19,466,344...19,510,553
Ensembl chr15:37,726,474...37,763,602
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CCDC33 |
coiled-coil domain containing 33 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:53,158,057...53,278,500
Ensembl chr15:72,800,067...72,899,576 Ensembl chr15:72,800,067...72,899,576
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CCDC9B |
coiled-coil domain containing 9B |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:19,265,502...19,275,023
Ensembl chr15:37,520,475...37,529,968
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CCNB2 |
cyclin B2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:38,075,106...38,095,699
Ensembl chr15:56,382,391...56,402,299
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CCNDBP1 |
cyclin D1 binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:22,146,561...22,156,570
Ensembl chr15:40,301,401...40,311,443
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CCPG1 |
cell cycle progression 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:34,324,670...34,382,141
Ensembl chr15:52,647,392...52,701,880
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CD276 |
CD276 molecule |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:52,594,719...52,625,047
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CDAN1 |
codanin 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:21,684,234...21,697,840
Ensembl chr15:39,838,604...39,851,562
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CDIN1 |
CDAN1 interacting nuclease 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:15,503,685...15,734,015
Ensembl chr15:33,762,079...33,990,777
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CEMIP |
cell migration inducing hyaluronidase 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:59,760,481...59,932,698
Ensembl chr15:78,810,600...78,888,723
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CEP152 |
centrosomal protein 152 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:27,665,278...27,760,808
Ensembl chr15:46,011,447...46,084,233
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CFAP161 |
cilia and flagella associated protein 161 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:60,113,489...60,134,987
Ensembl chr15:79,075,432...79,090,283
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CGNL1 |
cingulin like 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:36,344,222...36,518,235
Ensembl chr15:54,669,190...54,831,595
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CHAC1 |
ChaC glutathione specific gamma-glutamylcyclotransferase 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:19,895,554...19,898,672
Ensembl chr15:38,145,730...38,148,698
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CHP1 |
calcineurin like EF-hand protein 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:20,172,874...20,223,382
Ensembl chr15:38,418,815...38,467,681
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CHRM5 |
cholinergic receptor muscarinic 5 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:12,478,656...12,575,512
Ensembl chr15:31,406,198...31,407,796
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CHRNA3 |
cholinergic receptor nicotinic alpha 3 subunit |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:57,523,553...57,550,228
Ensembl chr15:76,487,710...76,512,044
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CHRNA5 |
cholinergic receptor nicotinic alpha 5 subunit |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:57,493,730...57,530,463
Ensembl chr15:76,455,165...76,486,376
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CHRNB4 |
cholinergic receptor nicotinic beta 4 subunit |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:57,552,697...57,570,828
Ensembl chr15:76,515,455...76,532,712
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CHST14 |
carbohydrate sulfotransferase 14 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:19,407,477...19,409,645
Ensembl chr15:37,660,621...37,661,622
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CIAO2A |
cytosolic iron-sulfur assembly component 2A |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:43,025,577...43,047,013
Ensembl chr15:61,317,188...61,338,337
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CIB1 |
calcium and integrin binding 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
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NCBI chr15:68,919,377...68,923,213
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CIB2 |
calcium and integrin binding family member 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:57,033,782...57,060,650
Ensembl chr15:75,998,797...76,025,485
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CILP |
cartilage intermediate layer protein |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:44,142,312...44,159,395
Ensembl chr15:62,425,780...62,441,214
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CIMAP1C |
ciliary microtubule associated protein 1C |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:54,630,808...54,636,066
Ensembl chr15:74,225,859...74,229,571
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CLK3 |
CDC like kinase 3 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:53,550,793...53,576,744
Ensembl chr15:73,181,664...73,196,148
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CLN6 |
CLN6 transmembrane ER protein |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:47,156,583...47,215,805
Ensembl chr15:65,425,472...65,985,242
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CLPX |
caseinolytic mitochondrial matrix peptidase chaperone subunit X |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:44,088,070...44,128,730
Ensembl chr15:62,374,068...62,412,746
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COMMD4 |
COMM domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:54,252,289...54,256,637
Ensembl chr15:73,848,231...73,852,531
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COPS2 |
COP9 signalosome subunit 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:28,073,237...28,103,615
Ensembl chr15:46,396,077...46,426,396
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CORO2B |
coronin 2B |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:47,536,641...47,685,357
Ensembl chr15:66,370,374...66,452,545
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CPEB1 |
cytoplasmic polyadenylation element binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:62,949,264...63,053,994
Ensembl chr15:80,443,096...80,526,948
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CPLX3 |
complexin 3 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:53,769,138...53,774,330
Ensembl chr15:73,386,826...73,391,991
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CRABP1 |
cellular retinoic acid binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:57,269,794...57,277,697
Ensembl chr15:76,234,401...76,242,311
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CRTC3 |
CREB regulated transcription coactivator 3 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
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NCBI chr15:69,217,679...69,333,897
Ensembl chr15:88,427,468...88,533,593
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CSK |
C-terminal Src kinase |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:53,724,814...53,745,710
Ensembl chr15:73,342,703...73,363,476
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CSNK1G1 |
casein kinase 1 gamma 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:43,117,845...43,302,134
Ensembl chr15:61,410,414...61,594,180
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CSPG4 |
chondroitin sulfate proteoglycan 4 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:54,583,010...54,621,240
Ensembl chr15:74,177,909...74,200,498
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CTDSPL2 |
CTD small phosphatase like 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:23,384,416...23,483,508
Ensembl chr15:41,554,276...41,654,736
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CTSH |
cathepsin H |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:57,893,379...57,917,194
Ensembl chr15:76,852,668...76,876,976
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CTXN2 |
cortexin 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:27,127,250...27,152,785
Ensembl chr15:45,474,588...45,474,833
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CYP11A1 |
cytochrome P450 family 11 subfamily A member 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:53,280,110...53,310,868
Ensembl chr15:72,901,286...72,931,164
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CYP19A1 |
cytochrome P450 family 19 subfamily A member 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554
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CYP1A1 |
cytochrome P450 family 1 subfamily A member 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636
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CYP1A2 |
cytochrome P450 family 1 subfamily A member 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:53,692,877...53,699,279
Ensembl chr15:73,311,720...73,319,447
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DAPK2 |
death associated protein kinase 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:42,860,484...42,999,489
Ensembl chr15:61,152,553...61,284,990
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DENND4A |
DENN domain containing 4A |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:44,600,897...44,734,150
Ensembl chr15:62,882,496...63,012,979
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DET1 |
DET1 partner of COP1 E3 ubiquitin ligase |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:67,203,101...67,238,185
Ensembl chr15:86,411,937...86,444,789
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DIS3L |
DIS3 like exosome 3'-5' exoribonuclease |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:45,246,867...45,287,521
Ensembl chr15:63,523,512...63,563,813
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G |
DISP2 |
dispatched RND transporter family member 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,292,340...19,305,143
Ensembl chr15:37,548,049...37,559,623
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G |
DLL4 |
delta like canonical Notch ligand 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471
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G |
DMXL2 |
Dmx like 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:30,386,009...30,557,976
Ensembl chr15:48,719,150...48,890,708
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G |
DNAAF4 |
dynein axonemal assembly factor 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:34,382,064...34,469,432
Ensembl chr15:52,711,349...52,791,281
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|
G |
DNAJA4 |
DnaJ heat shock protein family (Hsp40) member A4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:57,193,545...57,211,518
Ensembl chr15:76,158,155...76,176,089
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|
G |
DNAJC17 |
DnaJ heat shock protein family (Hsp40) member C17 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,708,842...19,748,136
Ensembl chr15:37,960,965...37,999,674
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|
G |
DPH6 |
diphthamine biosynthesis 6 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:14,293,746...14,469,331
Ensembl chr15:32,554,276...32,729,455
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|
G |
DPP8 |
dipeptidyl peptidase 8 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:44,385,877...44,461,092
Ensembl chr15:62,666,088...62,740,504
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|
G |
DTWD1 |
DTW domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,578,698...28,602,840
Ensembl chr15:46,902,304...46,926,401
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|
G |
DUOX1 |
dual oxidase 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:24,077,557...24,113,206
Ensembl chr15:42,431,595...42,467,943
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|
G |
DUOX2 |
dual oxidase 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:24,040,513...24,061,758
Ensembl chr15:42,395,135...42,414,281
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|
G |
DUOXA1 |
dual oxidase maturation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:24,064,967...24,077,641
Ensembl chr15:42,418,234...42,430,749
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|
G |
DUOXA2 |
dual oxidase maturation factor 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:24,061,922...24,066,016
Ensembl chr15:42,415,195...42,418,974
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|
G |
DUT |
deoxyuridine triphosphatase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:27,280,025...27,292,003
Ensembl chr15:45,603,807...45,616,022
|
|
G |
EDC3 |
enhancer of mRNA decapping 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:53,577,101...53,642,504
Ensembl chr15:73,196,823...73,262,214
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|
G |
EFL1 |
elongation factor like GTPase 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:61,111,244...61,243,724
|
|
G |
EHD4 |
EH domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:20,840,517...20,926,900
Ensembl chr15:39,010,302...39,086,713
|
|
G |
EID1 |
EP300 interacting inhibitor of differentiation 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:27,827,790...27,829,493
|
|
G |
EIF2AK4 |
eukaryotic translation initiation factor 2 alpha kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:18,871,867...18,973,380
Ensembl chr15:37,120,044...37,229,211
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|
G |
EIF3J |
eukaryotic translation initiation factor 3 subunit J |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:23,493,363...23,518,705
|
|
G |
ELL3 |
elongation factor for RNA polymerase II 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:22,732,742...22,737,522
Ensembl chr15:40,821,759...40,827,070
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|
G |
EMC4 |
ER membrane protein complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:12,734,031...12,739,345
Ensembl chr15:31,568,622...31,573,547
|
|
G |
EMC7 |
ER membrane protein complex subunit 7 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:12,593,498...12,611,409
Ensembl chr15:31,428,591...31,446,290
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|
G |
EPB42 |
erythrocyte membrane protein band 4.2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:22,157,831...22,183,254
Ensembl chr15:40,313,462...40,337,458
|
|
G |
ETFA |
electron transfer flavoprotein subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:55,128,686...55,227,369
Ensembl chr15:74,720,198...74,818,494
|
|
G |
EXD1 |
exonuclease 3'-5' domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:20,124,681...20,172,875
Ensembl chr15:38,373,481...38,418,179
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|
G |
FAH |
fumarylacetoacetate hydrolase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:59,121,657...59,155,229
Ensembl chr15:78,048,571...78,115,098
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|
G |
FAM219B |
family with sequence similarity 219 member B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:53,840,510...53,847,389
Ensembl chr15:73,457,762...73,464,661
|
|
G |
FAM227B |
family with sequence similarity 227 member B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,454,626...28,578,566
Ensembl chr15:46,614,922...46,896,481
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|
G |
FAM81A |
family with sequence similarity 81 member A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:38,408,682...38,493,751
Ensembl chr15:56,716,721...56,799,249
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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 chr15:17,383,298...17,415,682
|
|
G |
FANCI |
FA complementation group I |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
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|
G |
FBN1 |
fibrillin 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
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|
G |
FBXL22 |
F-box and leucine rich repeat protein 22 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:42,543,909...42,548,938
Ensembl chr15:60,837,032...60,841,829
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|
G |
FBXO22 |
F-box protein 22 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:54,817,076...54,849,271
Ensembl chr15:74,410,213...74,441,609
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|
G |
FEM1B |
fem-1 homolog B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:47,236,920...47,254,878
Ensembl chr15:66,005,614...66,024,007
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|
G |
FES |
FES proto-oncogene, tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:69,576,936...69,588,834
Ensembl chr15:88,774,965...88,786,965
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|
G |
FGF7 |
fibroblast growth factor 7 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,378,339...28,442,800
Ensembl chr15:46,702,119...46,770,163
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|
G |
FOXB1 |
forkhead box B1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:38,979,727...38,983,040
Ensembl chr15:57,284,077...57,285,054
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|
G |
FRMD5 |
FERM domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:22,830,850...23,161,693
Ensembl chr15:40,919,053...41,250,981
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|
G |
FSD2 |
fibronectin type III and SPRY domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:62,790,477...62,842,838
Ensembl chr15:80,657,013...80,684,790
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|
G |
FSIP1 |
fibrous sheath interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:18,540,424...18,722,868
|
|
G |
FURIN |
furin, paired basic amino acid cleaving enzyme |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:69,560,774...69,576,007
Ensembl chr15:88,763,269...88,774,023
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|
G |
GABPB1 |
GA binding protein transcription factor subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,223,588...29,303,863
Ensembl chr15:47,547,202...47,600,234
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|
G |
GALK2 |
galactokinase 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,103,719...28,278,718
Ensembl chr15:46,440,759...46,600,440
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|
G |
GATM |
glycine amidinotransferase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:24,309,045...24,326,673
Ensembl chr15:42,639,597...42,657,209
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|
G |
GCHFR |
GTP cyclohydrolase I feedback regulator |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,704,891...19,708,686
Ensembl chr15:37,957,109...37,960,973
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|
G |
GCNT3 |
glucosaminyl (N-acetyl) transferase 3, mucin type |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:38,580,509...38,589,223
Ensembl chr15:56,892,716...56,894,032
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|
G |
GDPGP1 |
GDP-D-glucose phosphorylase 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr15:68,923,301...68,931,353
Ensembl chr15:88,132,147...88,133,304
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G |
GJD2 |
gap junction protein delta 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:13,668,639...13,672,691
Ensembl chr15:31,928,157...31,931,474
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G |
GLCE |
glucuronic acid epimerase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:48,110,725...48,222,251
Ensembl chr15:66,979,271...66,995,646
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G |
GLDN |
gliomedin |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:30,285,743...30,352,403
Ensembl chr15:48,619,452...48,685,616
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G |
GNB5 |
G protein subunit beta 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:31,061,310...31,122,427
Ensembl chr15:49,388,026...49,452,123
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G |
GOLGA6B |
golgin A6 family member B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:51,553,289...51,584,844
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|
G |
GOLM2 |
golgi membrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:23,248,227...23,372,928
Ensembl chr15:41,418,910...41,542,748
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G |
GPR176 |
G protein-coupled receptor 176 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:18,739,092...18,858,618
Ensembl chr15:36,995,149...37,007,073
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G |
GRAMD2A |
GRAM domain containing 2A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:51,111,249...51,148,379
Ensembl chr15:69,874,593...69,912,241
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G |
GREM1 |
gremlin 1, DAN family BMP antagonist |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:11,213,870...11,230,619
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|
G |
GTF2A2 |
general transcription factor IIA subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:38,608,360...38,627,156
Ensembl chr15:56,913,452...56,932,052
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G |
HACD3 |
3-hydroxyacyl-CoA dehydratase 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:44,473,542...44,520,885
Ensembl chr15:62,752,762...62,799,950
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G |
HAPLN3 |
hyaluronan and proteoglycan link protein 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr15:67,565,957...67,584,352
Ensembl chr15:86,773,882...86,792,120
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G |
HAUS2 |
HAUS augmin like complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:21,510,173...21,531,733
Ensembl chr15:39,666,043...39,683,322
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G |
HCN4 |
hyperpolarization activated cyclic nucleotide gated potassium channel 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:52,231,906...52,285,220
Ensembl chr15:70,997,020...71,042,285
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G |
HDC |
histidine decarboxylase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,188,296...29,212,327
Ensembl chr15:47,510,629...47,534,577
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G |
HDDC3 |
HD domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:69,623,932...69,628,130
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|
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 chr15:42,555,131...42,785,228
Ensembl chr15:60,848,493...61,017,244
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G |
HEXA |
hexosaminidase subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:51,235,123...51,326,832
Ensembl chr15:70,057,943...70,090,688 Ensembl chr15:70,057,943...70,090,688
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|
G |
HMG20A |
high mobility group 20A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:56,348,298...56,413,106
Ensembl chr15:72,137,714...72,202,149
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G |
HOMER2 |
homer scaffold protein 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:62,617,905...62,762,903
Ensembl chr15:80,737,570...80,784,729
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G |
HYKK |
hydroxylysine kinase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:57,435,833...57,465,557
Ensembl chr15:76,400,131...76,428,844
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|
G |
HYPK |
huntingtin interacting protein K |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:22,760,593...22,762,059
Ensembl chr15:40,850,849...40,852,835
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|
G |
ICE2 |
interactor of little elongation complex ELL subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:39,393,556...39,452,395
Ensembl chr15:57,695,137...57,754,285
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|
G |
IDH2 |
isocitrate dehydrogenase (NADP(+)) 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276
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G |
IDH3A |
isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:57,078,588...57,099,934
Ensembl chr15:76,043,311...76,064,634
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G |
IGDCC3 |
immunoglobulin superfamily DCC subclass member 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:44,272,875...44,324,328
Ensembl chr15:62,554,128...62,604,748
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|
G |
IGDCC4 |
immunoglobulin superfamily DCC subclass member 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:44,327,428...44,369,024
Ensembl chr15:62,608,243...62,642,881
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|
G |
IL16 |
interleukin 16 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:60,181,827...60,299,406
Ensembl chr15:79,122,988...79,250,861
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|
G |
IMP3 |
IMP U3 small nucleolar ribonucleoprotein 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:54,547,455...54,548,633
Ensembl chr15:74,141,156...74,141,710
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G |
INO80 |
INO80 complex ATPase subunit |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,920,980...20,058,117
Ensembl chr15:38,170,982...38,307,311
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G |
INSYN1 |
inhibitory synaptic factor 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:52,650,196...52,663,270
Ensembl chr15:71,405,502...71,418,269
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G |
INTS14 |
integrator complex subunit 14 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:44,521,277...44,552,780
Ensembl chr15:62,800,351...62,831,946
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G |
IQCH |
IQ motif containing H |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:46,206,780...46,457,549
Ensembl chr15:64,477,650...64,720,706
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G |
IQGAP1 |
IQ motif containing GTPase activating protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr15:69,076,025...69,190,082
Ensembl chr15:88,276,851...88,388,594
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G |
IREB2 |
iron responsive element binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:57,367,314...57,430,322
Ensembl chr15:76,331,610...76,394,476
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G |
ISG20 |
interferon stimulated exonuclease gene 20 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:67,328,334...67,345,085
Ensembl chr15:86,536,647...86,553,751
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G |
ISL2 |
ISL LIM homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:55,250,837...55,257,775
Ensembl chr15:74,843,797...74,848,635
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G |
ISLR |
immunoglobulin superfamily containing leucine rich repeat |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:53,112,206...53,115,367
Ensembl chr15:72,736,331...72,737,617
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G |
ISLR2 |
immunoglobulin superfamily containing leucine rich repeat 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:53,066,685...53,075,324
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G |
ITGA11 |
integrin subunit alpha 11 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:47,260,931...47,390,062
Ensembl chr15:66,031,201...66,128,985
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G |
ITPKA |
inositol-trisphosphate 3-kinase A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:20,434,532...20,444,389
Ensembl chr15:38,675,600...38,684,779
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G |
IVD |
isovaleryl-CoA dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,342,283...19,372,465
Ensembl chr15:37,596,688...37,609,902
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G |
KATNBL1 |
katanin regulatory subunit B1 like 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:12,650,139...12,719,655
Ensembl chr15:31,484,885...31,554,402
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G |
KBTBD13 |
kelch repeat and BTB domain containing 13 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:44,016,331...44,019,797
Ensembl chr15:62,300,878...62,302,254
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G |
KIF23 |
kinesin family member 23 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:48,364,891...48,399,038
Ensembl chr15:67,135,401...67,169,531
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G |
KIF7 |
kinesin family member 7 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445
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|
G |
KLHL25 |
kelch like family member 25 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:64,448,130...64,486,254
Ensembl chr15:83,670,090...83,671,859
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G |
KNL1 |
kinetochore scaffold 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,539,264...19,609,593
Ensembl chr15:37,801,705...37,860,858
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|
G |
KNSTRN |
kinetochore localized astrin (SPAG5) binding protein |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,316,854...19,328,425
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|
G |
LACTB |
lactamase beta |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:42,069,069...42,089,329
Ensembl chr15:60,365,427...60,385,179
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|
G |
LARP6 |
La ribonucleoprotein 6, translational regulator |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:49,781,184...49,803,856
Ensembl chr15:68,547,937...68,552,899
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|
G |
LCMT2 |
leucine carboxyl methyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:22,288,992...22,291,814
Ensembl chr15:40,444,633...40,446,693
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|
G |
LCTL |
lactase like |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:45,495,650...45,514,096
Ensembl chr15:63,769,946...63,787,409
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|
G |
LDHAL6B |
lactate dehydrogenase A like 6B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:38,176,451...38,179,189
Ensembl chr15:56,484,343...56,485,488
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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 chr15:30,879,431...30,913,361
Ensembl chr15:49,208,132...49,241,055
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|
G |
LINC02694 |
long intergenic non-protein coding RNA 2694 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:17,625,792...17,629,200
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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 chr15:56,424,422...56,747,075
Ensembl chr15:72,328,079...72,347,016
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|
G |
LIPC |
lipase C, hepatic type |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005
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G |
LMAN1L |
lectin, mannose binding 1 like |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:53,754,682...53,768,324
Ensembl chr15:73,373,160...73,386,050
|
|
G |
LOC100981651 |
chromosome 15 C15orf54 homolog |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:18,194,424...18,195,749
|
|
G |
LOC100984344 |
calpain-3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:21,227,371...21,372,406
Ensembl chr15:39,476,302...39,528,820 Ensembl chr15:39,476,302...39,528,820
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|
G |
LOC100987752 |
actin alpha cardiac muscle 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:13,707,475...13,712,905
Ensembl chr15:31,966,278...31,971,782
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|
G |
LOC100988094 |
cytochrome c oxidase subunit 5A, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:53,860,721...53,878,699
|
|
G |
LOC100991599 |
creatine kinase U-type, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:22,654,349...22,660,890
|
|
G |
LOC117975990 |
golgin subfamily A member 8B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:12,895,442...12,917,196
|
|
G |
LOC129392921 |
sodium/nucleoside cotransporter 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:63,551,499...63,613,461
Ensembl chr15:82,875,339...82,935,762 Ensembl chr15:82,875,339...82,935,762
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|
G |
LOXL1 |
lysyl oxidase like 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:52,835,675...52,861,324
|
|
G |
LPCAT4 |
lysophosphatidylcholine acyltransferase 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:12,869,782...12,878,350
Ensembl chr15:31,704,297...31,712,779
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|
G |
LRRC49 |
leucine rich repeat containing 49 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:49,841,934...50,023,736
Ensembl chr15:68,589,175...68,769,334
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|
G |
LRRC57 |
leucine rich repeat containing 57 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:21,499,139...21,510,154
Ensembl chr15:39,659,387...39,666,068
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|
G |
LTK |
leukocyte receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:20,444,471...20,455,586
Ensembl chr15:38,685,255...38,695,381
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|
G |
LYSMD2 |
LysM domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:30,661,922...30,690,653
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|
G |
MAN2A2 |
mannosidase alpha class 2A member 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:69,595,318...69,614,255
Ensembl chr15:88,795,543...88,810,497
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|
G |
MAN2C1 |
mannosidase alpha class 2C member 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:54,272,142...54,285,102
Ensembl chr15:73,868,134...73,880,704
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|
G |
MAP1A |
microtubule associated protein 1A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:22,472,641...22,493,293
Ensembl chr15:40,627,099...40,647,752
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|
G |
MAP2K1 |
mitogen-activated protein kinase kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161
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|
G |
MAP2K5 |
mitogen-activated protein kinase kinase 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:46,493,139...46,760,271
Ensembl chr15:64,761,394...65,029,655
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|
G |
MAPDA |
N6-Methyl-AMP deaminase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:22,291,939...22,315,830
Ensembl chr15:40,451,403...40,468,241
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|
G |
MAPK6 |
mitogen-activated protein kinase 6 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:30,946,218...31,007,987
Ensembl chr15:49,273,095...49,335,754
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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 chr15:20,713,859...20,768,224
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|
G |
MEGF11 |
multiple EGF like domains 11 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:44,836,750...45,208,674
Ensembl chr15:63,116,564...63,204,508
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G |
MEIS2 |
Meis homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:15,814,739...16,025,512
Ensembl chr15:34,072,665...34,282,477
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G |
MESD |
mesoderm development LRP chaperone |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:59,959,985...59,970,904
Ensembl chr15:78,914,991...78,926,612
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G |
MESP1 |
mesoderm posterior bHLH transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr15:68,440,626...68,441,935
Ensembl chr15:87,645,768...87,647,210
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G |
MESP2 |
mesoderm posterior bHLH transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
|
NCBI chr15:68,470,528...68,473,209
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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 chr15:61,025,026...61,029,324
Ensembl chr15:82,172,946...82,180,581
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G |
MFAP1 |
microfibril associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:22,764,678...22,784,934
Ensembl chr15:40,856,392...40,875,376
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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:17407155 PMID:28492532 |
|
NCBI chr15:67,587,360...67,602,029
Ensembl chr15:86,795,135...86,809,876
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G |
MGA |
MAX dimerization protein MGA |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:20,560,842...20,710,269
Ensembl chr15:38,839,708...38,948,847
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G |
MINAR1 |
membrane integral NOTCH2 associated receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:58,402,688...58,445,461
Ensembl chr15:77,361,433...77,402,124
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G |
MINDY2 |
MINDY lysine 48 deubiquitinase 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:37,737,665...37,831,501
Ensembl chr15:56,047,970...56,134,203
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G |
MNS1 |
meiosis specific nuclear structural 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:35,377,490...35,433,871
Ensembl chr15:53,714,110...53,750,050
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G |
MORF4L1 |
mortality factor 4 like 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:57,844,220...57,869,139
Ensembl chr15:76,772,007...76,829,259
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G |
MPI |
mannose phosphate isomerase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:53,832,088...53,841,832
Ensembl chr15:73,449,439...73,457,205
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G |
MRPL46 |
mitochondrial ribosomal protein L46 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:67,151,616...67,159,521
Ensembl chr15:86,359,188...86,367,113
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G |
MRPS11 |
mitochondrial ribosomal protein S11 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:67,159,746...67,172,891
Ensembl chr15:86,367,127...86,377,728
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G |
MTFMT |
mitochondrial methionyl-tRNA formyltransferase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:43,942,227...43,969,182
Ensembl chr15:62,225,620...62,253,612
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|
G |
MTHFS |
methenyltetrahydrofolate synthetase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:58,810,966...58,864,831
Ensembl chr15:77,770,216...77,822,206
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|
G |
MYEF2 |
myelin expression factor 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:27,086,001...27,127,313
Ensembl chr15:45,412,593...45,443,600
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G |
MYO1E |
myosin IE |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:38,106,599...38,343,040
Ensembl chr15:56,413,570...56,649,722
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G |
MYO5A |
myosin VA |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:31,246,192...31,470,040
Ensembl chr15:49,578,491...49,704,319
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G |
MYO5C |
myosin VC |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:31,133,566...31,235,074
Ensembl chr15:49,459,741...49,549,752
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|
G |
MYO9A |
myosin IXA |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:50,771,747...51,069,700
Ensembl chr15:69,541,318...69,760,771
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|
G |
MYZAP |
myocardial zonula adherens protein |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:36,560,355...36,653,881
Ensembl chr15:54,873,644...54,997,202
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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 chr15:20,326,486...20,341,156
Ensembl chr15:38,569,731...38,583,872
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|
G |
NEDD4 |
NEDD4 E3 ubiquitin protein ligase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:34,798,880...34,963,823
Ensembl chr15:53,118,411...53,283,076
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|
G |
NEIL1 |
nei like DNA glycosylase 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:54,263,424...54,271,601
Ensembl chr15:73,858,910...73,867,474
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|
G |
NEO1 |
neogenin 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:51,968,238...52,221,116
Ensembl chr15:70,789,035...70,977,178
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G |
NGRN |
neugrin, neurite outgrowth associated |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
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NCBI chr15:68,954,039...68,960,612
Ensembl chr15:88,156,109...88,162,659
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G |
NMB |
neuromedin B |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:63,322,869...63,326,989
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G |
NOP10 |
NOP10 ribonucleoprotein |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:12,850,708...12,852,171
Ensembl chr15:31,684,833...31,686,305
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G |
NOX5 |
NADPH oxidase 5 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:47,961,085...48,003,529
Ensembl chr15:66,734,521...66,777,037
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G |
NPTN |
neuroplastin |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:52,470,545...52,544,046
Ensembl chr15:71,229,992...71,269,579
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G |
NR2E3 |
nuclear receptor subfamily 2 group E member 3 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:50,759,707...50,767,703
Ensembl chr15:69,525,351...69,533,034
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G |
NRG4 |
neuregulin 4 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:54,849,104...54,972,379
Ensembl chr15:74,449,691...74,518,748
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G |
NSMCE2 |
NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase |
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ISO |
OMIM:210900 |
MouseDO |
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NCBI chr 8:121,777,986...122,052,094
Ensembl chr 8:124,529,268...124,803,114
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G |
NTRK3 |
neurotrophic receptor tyrosine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:66,566,219...66,953,279
Ensembl chr15:85,776,832...86,157,204
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G |
NUSAP1 |
nucleolar and spindle associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:20,273,953...20,322,512
Ensembl chr15:38,517,591...38,564,695
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G |
NUTM1 |
NUT midline carcinoma family member 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:12,852,280...12,868,873
Ensembl chr15:31,686,443...31,703,128
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G |
OAZ2 |
ornithine decarboxylase antizyme 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:43,629,712...43,645,426
Ensembl chr15:61,919,532...61,933,821
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G |
OIP5 |
Opa interacting protein 5 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:20,250,339...20,273,856
Ensembl chr15:38,494,534...38,517,300
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G |
ONECUT1 |
one cut homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,694,830...31,727,644
Ensembl chr15:50,016,010...50,053,062
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G |
PAK6 |
p21 (RAC1) activated kinase 6 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:19,173,171...19,211,572
Ensembl chr15:37,453,802...37,465,119
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G |
PAK6-AS1 |
PAK6 antisense RNA 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:19,184,775...19,187,261
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G |
PAQR5 |
progestin and adipoQ receptor family member 5 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:48,248,552...48,357,205
Ensembl chr15:67,082,077...67,127,765
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G |
PARP16 |
poly(ADP-ribose) polymerase family member 16 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:44,163,785...44,231,895
Ensembl chr15:62,485,144...62,513,722
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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 chr15:51,191,718...51,223,312
Ensembl chr15:69,955,568...69,987,061
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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 chr15:23,622,330...23,667,962
Ensembl chr15:41,790,682...41,801,825
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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 chr15:43,311,115...43,331,979
Ensembl chr15:61,602,830...61,617,303
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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 chr15:44,057,667...44,073,812
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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 chr15:63,649,336...63,805,613
Ensembl chr15:82,971,986...83,127,957
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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 chr15:22,706,520...22,731,672
Ensembl chr15:40,794,144...40,821,763
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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 chr15:56,038,568...56,348,118
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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:17407155 PMID:28492532 |
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NCBI chr15:68,375,201...68,384,440
Ensembl chr15:87,581,564...87,590,684
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G |
PGBD4 |
piggyBac transposable element derived 4 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:12,611,489...12,617,110
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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 chr15:47,006,718...47,141,035
Ensembl chr15:65,276,530...65,410,105
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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 chr15:34,379,792...34,390,023
Ensembl chr15:52,702,057...52,712,290
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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 chr15:43,756,605...43,766,631
Ensembl chr15:62,041,461...62,052,311
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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 chr15:34,288,600...34,325,079
Ensembl chr15:52,611,474...52,647,797
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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 chr15:51,149,584...51,182,193
Ensembl chr15:69,913,455...69,945,832
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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 chr15:21,021,875...21,048,848
Ensembl chr15:39,182,100...39,208,996
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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 chr15:20,937,573...20,975,388
Ensembl chr15:39,095,777...39,165,161
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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 chr15:21,095,474...21,110,983
Ensembl chr15:39,253,819...39,271,482
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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 chr15:19,218,329...19,241,977
Ensembl chr15:37,476,699...37,496,813
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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 chr15:43,782,812...43,808,969
Ensembl chr15:62,052,563...62,093,865
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G |
PLIN1 |
perilipin 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:17407155 PMID:28492532 |
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NCBI chr15:68,357,815...68,375,062
Ensembl chr15:87,565,468...87,577,301
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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 chr15:52,903,874...52,955,151
Ensembl chr15:71,658,884...71,710,883
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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:17407155 PMID:28492532 |
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NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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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 chr15:36,674,521...36,685,343
Ensembl chr15:54,873,644...54,997,202
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G |
PPCDC |
phosphopantothenoylcysteine decarboxylase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:53,963,001...54,001,550
Ensembl chr15:73,579,583...73,606,834
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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 chr15:43,108,139...43,115,470
Ensembl chr15:61,400,272...61,406,758
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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 chr15:22,495,159...22,553,264
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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 chr15:19,756,077...19,786,920
Ensembl chr15:38,007,632...38,022,094
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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:28492532 |
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NCBI chr15:69,659,420...69,687,707
Ensembl chr15:88,856,323...88,884,071
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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 chr15:34,579,267...34,715,039
Ensembl chr15:52,910,486...53,032,562
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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 chr15:57,468,590...57,477,390
Ensembl chr15:76,431,890...76,440,655
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G |
PSTPIP1 |
proline-serine-threonine phosphatase interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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Ensembl chr15:75,533,114...75,552,365
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G |
PTPN9 |
protein tyrosine phosphatase non-receptor type 9 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:54,382,689...54,489,942
Ensembl chr15:73,978,147...74,034,204
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G |
PYGO1 |
pygopus family PHD finger 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:34,509,787...34,556,686
Ensembl chr15:52,838,651...52,879,630
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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 chr15:44,810,880...44,833,438
Ensembl chr15:63,088,084...63,108,077
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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 chr15:34,174,491...34,263,045
Ensembl chr15:52,498,202...52,529,984
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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 chr15:42,136,776...42,214,792
Ensembl chr15:60,432,749...60,510,547
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G |
RAD51 |
RAD51 recombinase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:19,638,310...19,672,474
Ensembl chr15:37,891,056...37,925,207
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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 chr15:62,613,027...62,617,863
Ensembl chr15:80,876,487...80,881,337
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