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G |
Angpt2 |
angiopoietin 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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G |
Aspm |
assembly factor for spindle microtubules |
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ISO |
DNA:mutations: : ClinVar Annotator: match by term: Autosomal recessive primary microcephaly DNA:insertion:cds:c.4195_4196insA (p.T1399NfsX20)(human) |
ClinVar RGD |
PMID:15355437 PMID:16199547 PMID:18414213 PMID:19028728 PMID:20301772 PMID:20679666 PMID:22823409 PMID:23611254 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30842647 PMID:31980526 PMID:19770472 PMID:18452193 More...
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RGD:13442485, RGD:13442486 |
NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
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G |
Cenpj |
centromere protein J |
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ISO |
DNA:deletion mutation:cds:c.3243-46delTCAG (human) ClinVar Annotator: match by term: Autosomal recessive primary microcephaly |
ClinVar RGD |
PMID:18414213 PMID:24033266 PMID:16900296 |
RGD:11541115 |
NCBI chr15:30,627,206...30,690,384
Ensembl chr15:30,627,224...30,686,791
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G |
Cit |
citron rho-interacting serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly |
ClinVar |
PMID:27453579 PMID:27503289 |
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NCBI chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860
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G |
Knl1 |
kinetochore scaffold 1 |
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ISO |
DNA:mutation:cds: c.6125 G>A,p. M2041I(human) |
RGD |
PMID:22983954 |
RGD:9685043 |
NCBI chr 3:106,029,627...106,091,915
Ensembl chr 3:106,029,661...106,091,915
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G |
Mcph1 |
microcephalin 1 |
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ISO |
DNA:deletion: :p.R393Sfs*50 (human) ClinVar Annotator: match by term: Autosomal recessive primary microcephaly DNA:mutations:exon, intron:multiple |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:22775483 PMID:20978018 |
RGD:13204748, RGD:13204750 |
NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122
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G |
Wdr62 |
WD repeat domain 62 |
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ISO |
DNA:duplication:cds: c.2527dupG (p.D843GfsX3)(human) ClinVar Annotator: match by term: Autosomal recessive primary microcephaly DNA:missense mutation:cds:c.1198G> A(p.E400K)(human) |
ClinVar RGD |
PMID:20729831 PMID:21961505 PMID:23065275 PMID:24228726 PMID:25303973 PMID:25741868 PMID:28492532 PMID:28756000 PMID:31130284 PMID:25303973 PMID:22308068 More...
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RGD:11541051, RGD:11541056 |
NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637
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G |
Zfp335 |
zinc finger protein 335 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 3:153,618,587...153,648,213
Ensembl chr 3:153,627,467...153,647,054
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G |
Angpt2 |
angiopoietin 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive |
ClinVar |
PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32714618 |
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NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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G |
Aspm |
assembly factor for spindle microtubules |
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ISO |
ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive |
ClinVar |
PMID:18414213 PMID:19028728 PMID:19332161 PMID:19770472 PMID:20301772 PMID:23611254 PMID:25741868 PMID:26548919 PMID:26691732 PMID:26846091 PMID:28492532 PMID:29243349 PMID:29644084 PMID:31853109 PMID:32677750 PMID:33255631 PMID:34402213 More...
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NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
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G |
Cenpj |
centromere protein J |
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ISO |
ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive |
ClinVar |
PMID:12843329 PMID:15793586 PMID:20301772 PMID:22775483 PMID:25741868 |
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NCBI chr15:30,627,206...30,690,384
Ensembl chr15:30,627,224...30,686,791
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G |
Mcph1 |
microcephalin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive DNA:insertion:exon:c.427insA (human) |
OMIM CTD ClinVar RGD |
PMID:7693575 PMID:11857108 PMID:12046007 PMID:15199523 PMID:16199547 PMID:16311745 PMID:16783362 PMID:18414213 PMID:20101680 PMID:20301772 PMID:20949544 PMID:20978018 PMID:22139841 PMID:22154951 PMID:22908299 PMID:23281133 PMID:25741868 PMID:26467025 PMID:26539891 PMID:28492532 PMID:32714618 PMID:34402213 PMID:15199523 More...
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RGD:9589022 |
NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122
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G |
Rnf17 |
ring finger protein 17 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive |
ClinVar |
PMID:25741868 |
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NCBI chr15:30,487,899...30,626,024
Ensembl chr15:30,487,883...30,626,024
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G |
Zfp335 |
zinc finger protein 335 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 10 |
OMIM CTD ClinVar |
PMID:19131338 PMID:23178126 PMID:25741868 PMID:27540107 PMID:28327206 PMID:28492532 PMID:29652087 PMID:33216650 More...
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NCBI chr 3:153,618,587...153,648,213
Ensembl chr 3:153,627,467...153,647,054
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G |
Phc1 |
polyhomeotic homolog 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly 11, primary, autosomal recessive |
OMIM CTD ClinVar |
PMID:23418308 PMID:25558065 PMID:25741868 |
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NCBI chr 4:155,510,274...155,532,636
Ensembl chr 4:155,510,274...155,533,959
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G |
Cdk6 |
cyclin-dependent kinase 6 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 12, primary, autosomal recessive CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:23918663 |
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NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
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G |
Cenpe |
centromere protein E |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CENPE-related condition | ClinVar Annotator: match by term: Microcephaly 13, primary, autosomal recessive |
OMIM CTD ClinVar |
PMID:24748105 PMID:25741868 |
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NCBI chr 2:223,637,035...223,695,692
Ensembl chr 2:223,636,998...223,695,669
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G |
Sass6 |
SAS-6 centriolar assembly protein |
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ISO |
ClinVar Annotator: match by term: Microcephaly 14, primary, autosomal recessive CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:24951542 PMID:25741868 PMID:28492532 PMID:30639237 |
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NCBI chr 2:204,546,660...204,578,930
Ensembl chr 2:204,546,660...204,578,927
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G |
Mfsd2a |
MFSD2 lysolipid transporter A, lysophospholipid |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly 15, primary, autosomal recessive |
OMIM CTD ClinVar |
PMID:25741868 PMID:26005865 PMID:26005868 PMID:28492532 PMID:30043326 PMID:32572202 More...
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NCBI chr 5:135,225,801...135,240,744
Ensembl chr 5:135,225,816...135,240,690
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G |
Ankle2 |
ankyrin repeat and LEM domain containing 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly 16, primary, autosomal recessive |
OMIM CTD ClinVar |
PMID:23806086 PMID:24088041 PMID:25259927 PMID:25741868 PMID:30214071 PMID:31735666 PMID:35871307 More...
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NCBI chr12:46,418,142...46,451,304
Ensembl chr12:46,417,759...46,500,514
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G |
Cit |
citron rho-interacting serine/threonine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly 17, primary, autosomal recessive |
OMIM CTD ClinVar |
PMID:25741868 PMID:27453578 PMID:27453579 PMID:27503289 PMID:27519304 PMID:28492532 More...
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NCBI chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860
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G |
Copb2 |
COPI coat complex subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: COPB2-related condition | ClinVar Annotator: match by term: Microcephaly 19, primary, autosomal recessive |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29036432 PMID:34450031 |
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NCBI chr 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197
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G |
Wdr62 |
WD repeat domain 62 |
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ISO ISS |
ClinVar Annotator: match by term: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | ClinVar Annotator: match by term: Microcephaly, cortical malformations, and intellectual disability | ClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2 | ClinVar Annotator: match by term: WDR62-related condition OMIM:604317 CTD Direct Evidence: marker/mechanism DNA:nonsense, insertion, missense mutations:cds:c.1942 C>T,c.3936_3937insC, c.1313G>A,c.1531G>A(human) DNA:mutation:cds:c.390G > A(human) DNA:insertion,nonsense mutations:exons:c.535_536insA,c.900C>A(p.C300X)(human) |
OMIM ClinVar MouseDO CTD RGD |
PMID:3440221 PMID:9536098 PMID:10573015 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20729831 PMID:20890278 PMID:20890279 PMID:21834044 PMID:21961505 PMID:22775483 PMID:23065275 PMID:24228726 PMID:25303973 PMID:25741868 PMID:26077850 PMID:26467025 PMID:28004384 PMID:28377545 PMID:28492532 PMID:28756000 PMID:31130284 PMID:31589614 PMID:33502066 PMID:33589534 PMID:33604570 PMID:34402213 PMID:21961505 PMID:26577670 PMID:21496009 More...
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RGD:11537475, RGD:11537473, RGD:11537472 |
NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637
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G |
Kif14 |
kinesin family member 14 |
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ISO |
ClinVar Annotator: match by term: KIF14-related condition | ClinVar Annotator: match by term: Microcephaly 20, primary, autosomal recessive |
OMIM ClinVar |
PMID:16199547 PMID:23308235 PMID:25741868 PMID:28492532 PMID:28892560 PMID:29343805 PMID:30388224 More...
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NCBI chr13:47,926,975...47,990,598
Ensembl chr13:47,927,044...47,989,164
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G |
Gapdh |
glyceraldehyde-3-phosphate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive |
ClinVar |
PMID:25741868 |
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NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
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G |
Ncapd2 |
non-SMC condensin I complex, subunit D2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr 4:157,968,814...157,992,314
Ensembl chr 4:157,968,815...157,992,020
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G |
Ncapd3 |
non-SMC condensin II complex, subunit D3 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 22, primary, autosomal recessive |
OMIM ClinVar |
PMID:25741868 PMID:27737959 |
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NCBI chr 8:25,437,067...25,506,375
Ensembl chr 8:25,437,123...25,506,373
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G |
Ncaph |
non-SMC condensin I complex, subunit H |
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ISO |
ClinVar Annotator: match by term: Microcephaly 23, primary, autosomal recessive |
OMIM ClinVar |
PMID:25741868 PMID:27737959 |
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NCBI chr 3:114,371,937...114,399,178
Ensembl chr 3:114,371,941...114,399,180
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G |
Nup37 |
nucleoporin 37 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 24, primary, autosomal recessive |
OMIM ClinVar |
PMID:25741868 PMID:30179222 |
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NCBI chr 7:22,556,544...22,609,622
Ensembl chr 7:22,573,764...22,609,616
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G |
Trappc14 |
trafficking protein particle complex subunit 14 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 25, primary, autosomal recessive |
OMIM ClinVar |
PMID:25741868 PMID:30715179 |
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NCBI chr12:17,262,748...17,267,093
Ensembl chr12:17,262,750...17,267,084
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G |
Lmnb1 |
lamin B1 |
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ISO |
ClinVar Annotator: match by term: LMNB1-related condition | ClinVar Annotator: match by term: Microcephaly 26, primary, autosomal dominant |
OMIM ClinVar |
PMID:25741868 PMID:32910914 PMID:33033404 |
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NCBI chr18:50,175,861...50,215,210
Ensembl chr18:50,175,874...50,214,502
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G |
Lmnb2 |
lamin B2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 27, primary, autosomal dominant |
ClinVar OMIM |
PMID:25741868 PMID:33033404 |
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NCBI chr 7:8,792,628...8,808,665
Ensembl chr 7:8,789,314...8,808,665
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G |
Rrp7a |
ribosomal RNA processing 7 homolog A |
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ISO |
ClinVar Annotator: match by term: Microcephaly 28, primary, autosomal recessive |
OMIM ClinVar |
PMID:33199730 |
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NCBI chr 7:114,262,929...114,272,817
Ensembl chr 7:114,256,472...114,272,817
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G |
Pdcd6ip |
programmed cell death 6 interacting protein |
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ISO |
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OMIM |
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NCBI chr 8:113,590,998...113,646,795
Ensembl chr 8:113,590,998...113,646,773
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G |
Cdk5rap2 |
CDK5 regulatory subunit associated protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CDK5RAP2-related condition | ClinVar Annotator: match by term: Microcephaly 3, primary, autosomal recessive DNA:nonsense mutation:exon:243T>A(p.S81X)(human) DNA:nonsense mutation:exon: c.4441C>T (p.R1481X)(human) |
OMIM CTD ClinVar RGD |
PMID:10677332 PMID:15793586 PMID:17764569 PMID:18414213 PMID:20301772 PMID:20460369 PMID:22887808 PMID:23726037 PMID:23995685 PMID:25326637 PMID:25741868 PMID:26436113 PMID:27391121 PMID:27761245 PMID:28004182 PMID:28492532 PMID:30392784 PMID:31316545 PMID:17764569 PMID:23587236 More...
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RGD:13450905, RGD:11057920 |
NCBI chr 5:83,792,282...83,961,129
Ensembl chr 5:83,792,284...83,960,782
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G |
Bub1 |
BUB1 mitotic checkpoint serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Microcephaly 30, primary, autosomal recessive |
OMIM ClinVar |
PMID:35044816 |
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NCBI chr 3:115,020,254...115,051,650
Ensembl chr 3:115,020,254...115,051,650
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G |
Knl1 |
kinetochore scaffold 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 4, primary, autosomal recessive CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10521316 PMID:18414213 PMID:22983954 PMID:25326637 PMID:25741868 PMID:26626498 PMID:27149178 PMID:28454995 PMID:28492532 More...
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NCBI chr 3:106,029,627...106,091,915
Ensembl chr 3:106,029,661...106,091,915
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G |
Aspm |
assembly factor for spindle microtubules |
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ISO |
ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11067780 PMID:12355089 PMID:14574646 PMID:15355437 PMID:16141009 PMID:16199547 PMID:16673149 PMID:17576681 PMID:17849285 PMID:18414213 PMID:18452193 PMID:19028728 PMID:19332161 PMID:19353628 PMID:19770472 PMID:20301772 PMID:20679666 PMID:20978018 PMID:22823409 PMID:22989186 PMID:23611254 PMID:24033266 PMID:25480035 PMID:25525159 PMID:25741868 PMID:25786579 PMID:26467025 PMID:26548919 PMID:26663670 PMID:26691732 PMID:26846091 PMID:27250695 PMID:28004384 PMID:28492532 PMID:28554332 PMID:29243349 PMID:29388391 PMID:29522511 PMID:29644084 PMID:29706646 PMID:30167849 PMID:30842647 PMID:31680123 PMID:31696992 PMID:31853109 PMID:31934343 PMID:31980526 PMID:32404165 PMID:32677750 PMID:33255631 PMID:34402213 More...
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NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
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G |
Mfsd8 |
major facilitator superfamily domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive |
ClinVar |
PMID:25741868 |
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NCBI chr 2:123,822,042...123,847,808
Ensembl chr 2:123,816,614...123,857,971
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G |
Slc26a4 |
solute carrier family 26 member 4 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive |
ClinVar |
PMID:12676893 PMID:19287372 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703
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G |
Cenpj |
centromere protein J |
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ISO |
ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:12843329 PMID:15793586 PMID:16199547 PMID:16900296 PMID:18414213 PMID:20301772 PMID:20522431 PMID:20978018 PMID:22775483 PMID:24402816 PMID:25741868 PMID:26467025 PMID:26752647 PMID:28492532 PMID:32549991 PMID:34958143 PMID:35229910 More...
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NCBI chr15:30,627,206...30,690,384
Ensembl chr15:30,627,224...30,686,791
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G |
Rnf17 |
ring finger protein 17 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive |
ClinVar |
PMID:15793586 PMID:16199547 PMID:16900296 PMID:18414213 PMID:20301772 PMID:20522431 PMID:24402816 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr15:30,487,899...30,626,024
Ensembl chr15:30,487,883...30,626,024
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Stil |
STIL, centriolar assembly protein |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly 7, primary, autosomal recessive |
OMIM CTD ClinVar |
PMID:18414213 PMID:19215732 PMID:20301772 PMID:22989186 PMID:23772360 PMID:24986681 PMID:25218063 PMID:25741868 PMID:26467025 PMID:26539891 PMID:26548919 PMID:26633542 PMID:28492532 PMID:33132204 More...
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NCBI chr 5:128,520,837...128,573,732
Ensembl chr 5:128,520,953...128,573,730
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Cep135 |
centrosomal protein 135 |
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ISO |
ClinVar Annotator: match by term: CEP135-related condition | ClinVar Annotator: match by term: Microcephaly 8, primary, autosomal recessive CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:22521416 PMID:25741868 PMID:26657937 PMID:28492532 PMID:30214071 PMID:31696992 PMID:32643282 More...
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NCBI chr14:31,530,538...31,595,812
Ensembl chr14:31,531,482...31,595,772
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G |
Cep152 |
centrosomal protein 152 |
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ISO |
ClinVar Annotator: match by term: CEP152-related condition | ClinVar Annotator: match by term: Microcephaly 9, primary, autosomal recessive CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16199547 PMID:18414213 PMID:20598275 PMID:21131973 PMID:24033266 PMID:25741868 PMID:25996639 PMID:28454995 PMID:28492532 PMID:34402213 More...
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NCBI chr 3:112,803,185...112,878,298
Ensembl chr 3:112,810,425...112,878,458 Ensembl chr 3:112,810,425...112,878,458
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