RGD DISEASE ONTOLOGY - ANNOTATIONS
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.
Term: primary microcephaly
Accession: DOID:0070297
browse the term
Definition: A microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation. (DO)
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Dhcr7
7-dehydrocholesterol reductase
ISO
ClinVar Annotator: match by term: Primary microcephaly
ClinVar
PMID:9634533 PMID:9653161 PMID:10677299 PMID:10995508 PMID:11078571 PMID:11175299 PMID:15521979 PMID:15670717 PMID:15805162 PMID:16497572 PMID:17965227 PMID:19390132 PMID:20301322 PMID:20556518 PMID:23293579 PMID:24033266 PMID:25741868 PMID:27415407 PMID:28166604 PMID:28250423 PMID:28492532 PMID:33223529 More...
NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
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Dnah2
dynein, axonemal, heavy chain 2
ISO
ClinVar Annotator: match by term: Primary microcephaly
ClinVar
PMID:25741868
NCBI chr10:54,142,648...54,268,901
Ensembl chr10:54,142,737...54,267,298
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Foxg1
forkhead box G1
ISO
ClinVar Annotator: match by term: Primary microcephaly
ClinVar
PMID:25741868
NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607
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Igf2bp3
insulin-like growth factor 2 mRNA binding protein 3
ISO
ClinVar Annotator: match by term: Primary microcephaly
ClinVar
PMID:25741868
NCBI chr 4:78,060,494...78,195,007
Ensembl chr 4:78,060,494...78,194,865
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Kcnq1
potassium voltage-gated channel subfamily Q member 1
ISO
ClinVar Annotator: match by term: Primary microcephaly
ClinVar
PMID:1984130 PMID:2654361 PMID:15781747 PMID:15840476 PMID:19716085 PMID:19841300 PMID:22581653 PMID:22949429 PMID:23392653 PMID:23631430 PMID:24033266 PMID:24947509 PMID:25741868 PMID:25854863 PMID:26546361 PMID:26669661 PMID:27831900 PMID:28492532 PMID:30755392 PMID:31447099 PMID:34798354 More...
NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
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Rab11a
RAB11a, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Primary microcephaly
ClinVar
PMID:25741868
NCBI chr 8:65,223,698...65,246,461
Ensembl chr 8:65,222,949...65,246,525
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Rttn
rotatin
ISO
ClinVar Annotator: match by term: Primary microcephaly
ClinVar
PMID:25741868 PMID:26608784
NCBI chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333
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Smarcal1
Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
ISO
ClinVar Annotator: match by term: Primary 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...
NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
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Tsr1
TSR1, ribosome maturation factor
ISO
ClinVar Annotator: match by term: Primary microcephaly
ClinVar
PMID:25741868
NCBI chr10:59,760,420...59,771,868
Ensembl chr10:59,760,409...59,771,864
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Wdfy3
WD repeat and FYVE domain containing 3
ISO
ClinVar Annotator: match by term: Microcephaly 18, primary, autosomal dominant | ClinVar Annotator: match by term: WDFY3-related condition
OMIM ClinVar
PMID:25741868 PMID:27008544 PMID:28492532 PMID:31327001
NCBI chr14:7,578,245...7,810,491
Ensembl chr14:7,606,628...7,810,482
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Angpt2
angiopoietin 2
ISO
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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Aspm
assembly factor for spindle microtubules
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...
RGD:13442485 , RGD:13442486
NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
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Cenpj
centromere protein J
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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Cit
citron rho-interacting serine/threonine kinase
ISO
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly
ClinVar
PMID:27453579 PMID:27503289
NCBI chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860
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Knl1
kinetochore scaffold 1
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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Mcph1
microcephalin 1
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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Wdr62
WD repeat domain 62
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...
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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Zfp335
zinc finger protein 335
ISO
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly
ClinVar
PMID:25741868
NCBI chr 3:153,618,587...153,648,213
Ensembl chr 3:153,627,467...153,647,054
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Angpt2
angiopoietin 2
ISO
ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive
ClinVar
PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32714618
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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Aspm
assembly factor for spindle microtubules
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...
NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
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Cenpj
centromere protein J
ISO
ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive
ClinVar
PMID:12843329 PMID:15793586 PMID:20301772 PMID:22775483 PMID:25741868
NCBI chr15:30,627,206...30,690,384
Ensembl chr15:30,627,224...30,686,791
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Mcph1
microcephalin 1
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...
RGD:9589022
NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122
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Rnf17
ring finger protein 17
ISO
ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive
ClinVar
PMID:25741868
NCBI chr15:30,487,899...30,626,024
Ensembl chr15:30,487,883...30,626,024
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Zfp335
zinc finger protein 335
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...
NCBI chr 3:153,618,587...153,648,213
Ensembl chr 3:153,627,467...153,647,054
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Phc1
polyhomeotic homolog 1
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
NCBI chr 4:155,510,274...155,532,636
Ensembl chr 4:155,510,274...155,533,959
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Cdk6
cyclin-dependent kinase 6
ISO
ClinVar Annotator: match by term: Microcephaly 12, primary, autosomal recessive CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:23918663
NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
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Cenpe
centromere protein E
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
NCBI chr 2:223,637,035...223,695,692
Ensembl chr 2:223,636,998...223,695,669
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Sass6
SAS-6 centriolar assembly protein
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
NCBI chr 2:204,546,660...204,578,930
Ensembl chr 2:204,546,660...204,578,927
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Mfsd2a
MFSD2 lysolipid transporter A, lysophospholipid
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...
NCBI chr 5:135,225,801...135,240,744
Ensembl chr 5:135,225,816...135,240,690
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Ankle2
ankyrin repeat and LEM domain containing 2
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...
NCBI chr12:46,418,142...46,451,304
Ensembl chr12:46,417,759...46,500,514
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Cit
citron rho-interacting serine/threonine kinase
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...
NCBI chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860
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Copb2
COPI coat complex subunit beta 2
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
NCBI chr 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197
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Wdr62
WD repeat domain 62
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...
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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Kif14
kinesin family member 14
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...
NCBI chr13:47,926,975...47,990,598
Ensembl chr13:47,927,044...47,989,164
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive
ClinVar
PMID:25741868
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
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Ncapd2
non-SMC condensin I complex, subunit D2
ISO
ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive
OMIM ClinVar
PMID:25741868
NCBI chr 4:157,968,814...157,992,314
Ensembl chr 4:157,968,815...157,992,020
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Ncapd3
non-SMC condensin II complex, subunit D3
ISO
ClinVar Annotator: match by term: Microcephaly 22, primary, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:27737959
NCBI chr 8:25,437,067...25,506,375
Ensembl chr 8:25,437,123...25,506,373
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Ncaph
non-SMC condensin I complex, subunit H
ISO
ClinVar Annotator: match by term: Microcephaly 23, primary, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:27737959
NCBI chr 3:114,371,937...114,399,178
Ensembl chr 3:114,371,941...114,399,180
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Nup37
nucleoporin 37
ISO
ClinVar Annotator: match by term: Microcephaly 24, primary, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:30179222
NCBI chr 7:22,556,544...22,609,622
Ensembl chr 7:22,573,764...22,609,616
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Trappc14
trafficking protein particle complex subunit 14
ISO
ClinVar Annotator: match by term: Microcephaly 25, primary, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:30715179
NCBI chr12:17,262,748...17,267,093
Ensembl chr12:17,262,750...17,267,084
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Lmnb1
lamin B1
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
NCBI chr18:50,175,861...50,215,210
Ensembl chr18:50,175,874...50,214,502
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Lmnb2
lamin B2
ISO
ClinVar Annotator: match by term: Microcephaly 27, primary, autosomal dominant
ClinVar OMIM
PMID:25741868 PMID:33033404
NCBI chr 7:8,792,628...8,808,665
Ensembl chr 7:8,789,314...8,808,665
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Rrp7a
ribosomal RNA processing 7 homolog A
ISO
ClinVar Annotator: match by term: Microcephaly 28, primary, autosomal recessive
OMIM ClinVar
PMID:33199730
NCBI chr 7:114,262,929...114,272,817
Ensembl chr 7:114,256,472...114,272,817
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Pdcd6ip
programmed cell death 6 interacting protein
ISO
OMIM
NCBI chr 8:113,590,998...113,646,795
Ensembl chr 8:113,590,998...113,646,773
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Cdk5rap2
CDK5 regulatory subunit associated protein 2
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...
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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Bub1
BUB1 mitotic checkpoint serine/threonine kinase
ISO
ClinVar Annotator: match by term: Microcephaly 30, primary, autosomal recessive
OMIM ClinVar
PMID:35044816
NCBI chr 3:115,020,254...115,051,650
Ensembl chr 3:115,020,254...115,051,650
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Knl1
kinetochore scaffold 1
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...
NCBI chr 3:106,029,627...106,091,915
Ensembl chr 3:106,029,661...106,091,915
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Aspm
assembly factor for spindle microtubules
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...
NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
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Mfsd8
major facilitator superfamily domain containing 8
ISO
ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive
ClinVar
PMID:25741868
NCBI chr 2:123,822,042...123,847,808
Ensembl chr 2:123,816,614...123,857,971
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Slc26a4
solute carrier family 26 member 4
ISO
ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive
ClinVar
PMID:12676893 PMID:19287372 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703
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Cenpj
centromere protein J
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...
NCBI chr15:30,627,206...30,690,384
Ensembl chr15:30,627,224...30,686,791
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Rnf17
ring finger protein 17
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...
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
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...
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
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...
NCBI chr14:31,530,538...31,595,812
Ensembl chr14:31,531,482...31,595,772
G
Cep152
centrosomal protein 152
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...
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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all