MCPH9
MCID: MCR255
MIFTS: 41

Microcephaly 9, Primary, Autosomal Recessive (MCPH9)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Microcephaly 9, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 9, Primary, Autosomal Recessive:

Name: Microcephaly 9, Primary, Autosomal Recessive 57 73 13 71
Primary Autosomal Recessive Microcephaly 9 12 29 6 15
Mcph9 57 12 73
Microcephaly, Type 9, Primary, Autosomal Recessive 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
microcephaly 9, primary, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070292
OMIM® 57 614852
OMIM Phenotypic Series 57 PS251200
MeSH 44 D008831
UMLS 71 C3553886

Summaries for Microcephaly 9, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 73 Microcephaly 9, primary, autosomal recessive: A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.

MalaCards based summary : Microcephaly 9, Primary, Autosomal Recessive, also known as primary autosomal recessive microcephaly 9, is related to seckel syndrome 1 and neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities. An important gene associated with Microcephaly 9, Primary, Autosomal Recessive is CEP152 (Centrosomal Protein 152), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Cell Cycle, Mitotic. Affiliated tissues include cortex and brain, and related phenotypes are microcephaly and aggressive behavior

Disease Ontology : 12 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.

OMIM® : 57 Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (Woods et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200). (614852) (Updated 05-Mar-2021)

Related Diseases for Microcephaly 9, Primary, Autosomal Recessive

Diseases in the Microcephaly family:

Microcephaly, Autosomal Dominant Microcephaly 1, Primary, Autosomal Recessive
Microcephaly 4, Primary, Autosomal Recessive Microcephaly 3, Primary, Autosomal Recessive
Microcephaly 6, Primary, Autosomal Recessive Microcephaly 5, Primary, Autosomal Recessive
Microcephaly 7, Primary, Autosomal Recessive Microcephaly 8, Primary, Autosomal Recessive
Microcephaly 9, Primary, Autosomal Recessive Microcephaly 10, Primary, Autosomal Recessive
Microcephaly 11, Primary, Autosomal Recessive Microcephaly 13, Primary, Autosomal Recessive
Microcephaly 12, Primary, Autosomal Recessive Microcephaly 14, Primary, Autosomal Recessive
Microcephaly 16, Primary, Autosomal Recessive Microcephaly 17, Primary, Autosomal Recessive
Microcephaly 18, Primary, Autosomal Dominant Microcephaly 19, Primary, Autosomal Recessive
Microcephaly 20, Primary, Autosomal Recessive Microcephaly 21, Primary, Autosomal Recessive
Microcephaly 22, Primary, Autosomal Recessive Microcephaly 23, Primary, Autosomal Recessive
Microcephaly 24, Primary, Autosomal Recessive Microcephaly 25, Primary, Autosomal Recessive
Microcephaly 26, Primary, Autosomal Dominant Microcephaly 27, Primary, Autosomal Dominant
Primary Autosomal Recessive Microcephaly Primary Microcephaly

Diseases related to Microcephaly 9, Primary, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 seckel syndrome 1 10.1 CEP152 CENPJ
2 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities 10.1 STIL CEP152
3 polyposis syndrome, hereditary mixed, 1 9.9 SASS6 CEP135
4 mirror movements 1 9.9 KNL1 CENPJ
5 microcephaly 18, primary, autosomal dominant 9.8 MCPH1 CEP152 CENPJ
6 seckel syndrome 5 9.8 MCPH1 CEP152 CENPJ
7 microcephaly 13, primary, autosomal recessive 9.8 WDR62 MCPH1 CEP152
8 microcephaly 1, primary, autosomal recessive 9.8 MCPH1 CEP152 CENPJ
9 corneal dystrophy, meesmann, 1 9.8 SASS6 CEP152
10 walker-warburg syndrome 9.7 WDR62 MCPH1 CENPJ
11 miller-dieker lissencephaly syndrome 9.6 WDR62 MCPH1 CDK5RAP2
12 seckel syndrome 2 9.6 MCPH1 CEP152 CENPJ CDK5RAP2
13 seckel syndrome 4 9.6 MCPH1 CEP152 CENPJ CDK5RAP2
14 band heterotopia 9.5 WDR62 MCPH1 CENPJ CDK5RAP2
15 microcephaly 14, primary, autosomal recessive 9.5 WDR62 STIL SASS6 CEP152 CENPJ
16 microcephaly 10, primary, autosomal recessive 9.4 WDR62 MIR4528 CEP152 CEP135 CENPJ
17 autosomal recessive non-syndromic intellectual disability 9.3 WDR62 STIL MCPH1 CEP152 CDK5RAP2
18 periventricular nodular heterotopia 9.3 WDR62 STIL MCPH1 CENPJ CDK5RAP2
19 joubert syndrome 1 9.2 STIL SASS6 CEP152 CEP135 CENPJ CDK5RAP2
20 microcephaly 17, primary, autosomal recessive 9.2 WDR62 STIL MCPH1 CEP152 CENPJ CDK5RAP2
21 microcephalic osteodysplastic primordial dwarfism, type ii 9.2 STIL MCPH1 CEP152 CEP135 CENPJ CDK5RAP2
22 isolated growth hormone deficiency 9.1 WDR62 STIL SASS6 CEP152 CEP135 CENPJ
23 microcephaly 11, primary, autosomal recessive 9.0 WDR62 MIR4528 MCPH1 KNL1 CEP135 CENPJ
24 physical disorder 9.0 WDR62 STIL MCPH1 CEP152 CEP135 CENPJ
25 microcephaly 12, primary, autosomal recessive 8.8 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
26 microcephaly 5, primary, autosomal recessive 8.8 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
27 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 8.8 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
28 isolated growth hormone deficiency, type ia 8.7 WDR62 STIL SASS6 MCPH1 CEP152 CEP135
29 microcephaly 8.5 WDR62 STIL SASS6 MCPH1 KNL1 CEP152
30 congenital nervous system abnormality 8.5 WDR62 STIL SASS6 MCPH1 KNL1 CEP152
31 primary microcephaly 8.5 WDR62 STIL SASS6 MCPH1 KNL1 CEP152
32 seckel syndrome 8.5 WDR62 STIL SASS6 MCPH1 KNL1 CEP152
33 microcephaly 8, primary, autosomal recessive 8.3 WDR62 STIL MIR4528 MCPH1 KNL1 CEP152
34 microcephaly 6, primary, autosomal recessive 8.3 WDR62 STIL MIR4528 MCPH1 KNL1 CEP152
35 microcephaly 4, primary, autosomal recessive 8.3 WDR62 STIL MIR4528 MCPH1 KNL1 CEP152
36 primary autosomal recessive microcephaly 8.0 WDR62 STIL SASS6 MIR4528 MCPH1 KNL1
37 microcephaly 7, primary, autosomal recessive 8.0 WDR62 STIL SASS6 MIR4528 MCPH1 KNL1
38 microcephaly 3, primary, autosomal recessive 8.0 WDR62 STIL SASS6 MIR4528 MCPH1 KNL1

Graphical network of the top 20 diseases related to Microcephaly 9, Primary, Autosomal Recessive:



Diseases related to Microcephaly 9, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 9, Primary, Autosomal Recessive

Human phenotypes related to Microcephaly 9, Primary, Autosomal Recessive:

31
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 HP:0000252
2 aggressive behavior 31 HP:0000718
3 impulsivity 31 HP:0100710
4 bimanual synkinesia 31 HP:0001335
5 simplified gyral pattern 31 HP:0009879

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Behavioral Psychiatric Manifestations:
impulsivity
aggression

Head And Neck Head:
microcephaly, 5 to 7 sd below the mean

Neurologic Central Nervous System:
simplified gyral pattern
mild psychomotor delay
jerky movements in infancy
mirror movements
reduced brain size

Clinical features from OMIM®:

614852 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Microcephaly 9, Primary, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.7 CDK5RAP2 CENPJ CEP152 KNL1 MCPH1 STIL
2 nervous system MP:0003631 9.5 CDK5RAP2 CENPJ CEP152 KNL1 MCPH1 STIL
3 vision/eye MP:0005391 9.1 CDK5RAP2 CENPJ CEP135 KNL1 MCPH1 WDR62

Drugs & Therapeutics for Microcephaly 9, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 9, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 9, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 9, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 9 29 CEP152

Anatomical Context for Microcephaly 9, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 9, Primary, Autosomal Recessive:

40
Cortex, Brain

Publications for Microcephaly 9, Primary, Autosomal Recessive

Articles related to Microcephaly 9, Primary, Autosomal Recessive:

# Title Authors PMID Year
1
Genetic heterogeneity in Pakistani microcephaly families. 6 57
22775483 2013
2
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. 6 57
20598275 2010
3
Kinetochore KMN network gene CASC5 mutated in primary microcephaly. 57
22983954 2012
4
Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. 57
15806441 2005
5
Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. 57
10521316 1999
6
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301772 2009

Variations for Microcephaly 9, Primary, Autosomal Recessive

ClinVar genetic disease variations for Microcephaly 9, Primary, Autosomal Recessive:

6 (show top 50) (show all 145)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP152 NM_001194998.2(CEP152):c.3149T>C (p.Leu1050Pro) SNV Pathogenic 446758 rs398122977 15:49048296-49048296 15:48756099-48756099
2 CEP152 NM_001194998.2(CEP152):c.5070_5073del (p.Ile1691fs) Microsatellite Pathogenic 977842 15:49030506-49030509 15:48738309-48738312
3 CEP152 NM_001194998.2(CEP152):c.2920C>T (p.Gln974Ter) SNV Pathogenic 977865 15:49048525-49048525 15:48756328-48756328
4 CEP152 NM_001194998.2(CEP152):c.1155del (p.Thr386fs) Deletion Pathogenic 158223 rs587783414 15:49081016-49081016 15:48788819-48788819
5 CEP152 NM_001194998.2(CEP152):c.3016del (p.Thr1006fs) Deletion Pathogenic 158250 rs587783423 15:49048429-49048429 15:48756232-48756232
6 CEP152 NM_001194998.2(CEP152):c.3014_3015delinsT (p.Lys1005fs) Indel Pathogenic 210686 rs869312853 15:49048430-49048431 15:48756233-48756234
7 CEP152 NM_001194998.2(CEP152):c.3212del (p.Leu1071fs) Deletion Pathogenic 434736 rs1555418825 15:49048233-49048233 15:48756036-48756036
8 CEP152 NM_001194998.2(CEP152):c.2679del (p.Ser894fs) Deletion Pathogenic 158244 rs587783421 15:49052347-49052347 15:48760150-48760150
9 CEP152 NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro) SNV Pathogenic 55 rs267606717 15:49085556-49085556 15:48793359-48793359
10 CEP152 NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) SNV Pathogenic 158240 rs182018947 15:49059645-49059645 15:48767448-48767448
11 CEP152 NM_001194998.2(CEP152):c.2148-17G>A SNV Likely pathogenic 800949 rs751691427 15:49059406-49059406 15:48767209-48767209
12 CEP152 NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro) SNV Likely pathogenic 55 rs267606717 15:49085556-49085556 15:48793359-48793359
13 CEP152 NM_001194998.2(CEP152):c.780del (p.Asn260fs) Deletion Likely pathogenic 623157 rs1567024512 15:49085570-49085570 15:48793373-48793373
14 CEP152 NM_001194998.2(CEP152):c.833-1G>C SNV Likely pathogenic 977832 15:49083574-49083574 15:48791377-48791377
15 CEP152 NM_001194998.2(CEP152):c.2959C>T (p.Arg987Ter) SNV Likely pathogenic 56 rs267606718 15:49048486-49048486 15:48756289-48756289
16 CEP152 NM_001194998.2(CEP152):c.1866G>T (p.Leu622=) SNV Conflicting interpretations of pathogenicity 158234 rs61737684 15:49061195-49061195 15:48768998-48768998
17 CEP152 NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) SNV Conflicting interpretations of pathogenicity 158240 rs182018947 15:49059645-49059645 15:48767448-48767448
18 CEP152 NM_001194998.2(CEP152):c.2681C>T (p.Ser894Phe) SNV Conflicting interpretations of pathogenicity 158245 rs145138194 15:49052345-49052345 15:48760148-48760148
19 CEP152 NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val) SNV Conflicting interpretations of pathogenicity 158246 rs117557829 15:49048668-49048668 15:48756471-48756471
20 CEP152 NM_001194998.2(CEP152):c.5115A>G (p.Pro1705=) SNV Conflicting interpretations of pathogenicity 158272 rs1048042 15:49030464-49030464 15:48738267-48738267
21 CEP152 NM_001194998.2(CEP152):c.2827G>A (p.Glu943Lys) SNV Uncertain significance 158247 rs552367317 15:49048618-49048618 15:48756421-48756421
22 CEP152 NM_001194998.2(CEP152):c.3014A>T (p.Lys1005Ile) SNV Uncertain significance 158249 rs587783422 15:49048431-49048431 15:48756234-48756234
23 CEP152 NM_001194998.2(CEP152):c.35T>C (p.Val12Ala) SNV Uncertain significance 316432 rs191061766 15:49097812-49097812 15:48805615-48805615
24 CEP152 NM_001194998.2(CEP152):c.925A>C (p.Lys309Gln) SNV Uncertain significance 316429 rs199862615 15:49083481-49083481 15:48791284-48791284
25 CEP152 NM_001194998.2(CEP152):c.*73A>C SNV Uncertain significance 316406 rs886051259 15:49030373-49030373 15:48738176-48738176
26 CEP152 NM_001194998.2(CEP152):c.962A>G (p.Asn321Ser) SNV Uncertain significance 316427 rs556609167 15:49083444-49083444 15:48791247-48791247
27 CEP152 NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu) SNV Uncertain significance 158262 rs149478199 15:49033819-49033819 15:48741622-48741622
28 CEP152 NM_001194998.2(CEP152):c.1153G>T (p.Val385Phe) SNV Uncertain significance 316426 rs886051265 15:49081018-49081018 15:48788821-48788821
29 CEP152 NM_001194998.2(CEP152):c.2901A>G (p.Glu967=) SNV Uncertain significance 316419 rs886051262 15:49048544-49048544 15:48756347-48756347
30 CEP152 NM_014985.3(CEP152):c.-130C>T SNV Uncertain significance 316438 rs548247909 15:49103280-49103280 15:48811083-48811083
31 CEP152 NM_001194998.2(CEP152):c.5008G>C (p.Asp1670His) SNV Uncertain significance 316407 rs771595097 15:49030571-49030571 15:48738374-48738374
32 CEP152 NM_001194998.2(CEP152):c.4985A>G (p.His1662Arg) SNV Uncertain significance 316408 rs776286310 15:49030594-49030594 15:48738397-48738397
33 CEP152 NM_001194998.2(CEP152):c.3780G>C (p.Gly1260=) SNV Uncertain significance 316412 rs199777941 15:49036492-49036492 15:48744295-48744295
34 CEP152 NM_001194998.2(CEP152):c.1258A>T (p.Ile420Phe) SNV Uncertain significance 316424 rs776999918 15:49076233-49076233 15:48784036-48784036
35 CEP152 NM_001194998.2(CEP152):c.4175T>C (p.Ile1392Thr) SNV Uncertain significance 316410 rs186930123 15:49031404-49031404 15:48739207-48739207
36 CEP152 NM_001194998.2(CEP152):c.3433C>A (p.Pro1145Thr) SNV Uncertain significance 316415 rs200055660 15:49044579-49044579 15:48752382-48752382
37 CEP152 NM_001194998.2(CEP152):c.3324C>T (p.Asn1108=) SNV Uncertain significance 316417 rs537168507 15:49048121-49048121 15:48755924-48755924
38 CEP152 NM_001194998.2(CEP152):c.4T>A (p.Ser2Thr) SNV Uncertain significance 316433 rs374200686 15:49097843-49097843 15:48805646-48805646
39 CEP152 NM_001194998.2(CEP152):c.2928G>A (p.Glu976=) SNV Uncertain significance 316418 rs771359060 15:49048517-49048517 15:48756320-48756320
40 CEP152 NM_001194998.2(CEP152):c.3911G>A (p.Arg1304His) SNV Uncertain significance 316411 rs886051260 15:49034222-49034222 15:48742025-48742025
41 CEP152 NM_001194998.2(CEP152):c.2041C>T (p.His681Tyr) SNV Uncertain significance 316422 rs199690309 15:49059638-49059638 15:48767441-48767441
42 CEP152 NM_001194998.2(CEP152):c.-10C>G SNV Uncertain significance 316434 rs886051266 15:49103160-49103160 15:48810963-48810963
43 CEP152 NM_001194998.2(CEP152):c.3429T>G (p.Ala1143=) SNV Uncertain significance 158256 rs138151279 15:49044583-49044583 15:48752386-48752386
44 CEP152 NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val) SNV Uncertain significance 158224 rs181295720 15:49076311-49076311 15:48784114-48784114
45 CEP152 NM_001194998.2(CEP152):c.133G>A (p.Asp45Asn) SNV Uncertain significance 158226 rs200227733 15:49090203-49090203 15:48798006-48798006
46 CEP152 NM_001194998.2(CEP152):c.1578-6C>G SNV Uncertain significance 158230 rs80239443 15:49064894-49064894 15:48772697-48772697
47 CEP152 NM_001194998.2(CEP152):c.3085A>G (p.Met1029Val) SNV Uncertain significance 158251 rs201172776 15:49048360-49048360 15:48756163-48756163
48 CEP152 NM_001194998.2(CEP152):c.3355G>A (p.Ala1119Thr) SNV Uncertain significance 158255 rs61745204 15:49044657-49044657 15:48752460-48752460
49 CEP152 NM_001194998.2(CEP152):c.3781G>A (p.Gly1261Arg) SNV Uncertain significance 158258 rs369980055 15:49036491-49036491 15:48744294-48744294
50 CEP152 NM_001194998.2(CEP152):c.3880G>A (p.Glu1294Lys) SNV Uncertain significance 158259 rs12441978 15:49034253-49034253 15:48742056-48742056

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 9, Primary, Autosomal Recessive:

73
# Symbol AA change Variation ID SNP ID
1 CEP152 p.Gln265Pro VAR_063813 rs267606717

Expression for Microcephaly 9, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 9, Primary, Autosomal Recessive.

Pathways for Microcephaly 9, Primary, Autosomal Recessive

GO Terms for Microcephaly 9, Primary, Autosomal Recessive

Cellular components related to Microcephaly 9, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.01 WDR62 STIL SASS6 KNL1 CEP152 CEP135
2 cytoskeleton GO:0005856 9.86 WDR62 STIL SASS6 MCPH1 CEP152 CEP135
3 microtubule organizing center GO:0005815 9.63 WDR62 SASS6 MCPH1 CEP152 CENPJ CDK5RAP2
4 centrosome GO:0005813 9.5 WDR62 STIL SASS6 CEP152 CEP135 CENPJ
5 pericentriolar material GO:0000242 9.37 CEP152 CDK5RAP2
6 deuterosome GO:0098536 9.32 SASS6 CEP152
7 centriole GO:0005814 9.1 WDR62 STIL SASS6 CEP152 CEP135 CENPJ

Biological processes related to Microcephaly 9, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.62 CEP152 CEP135 CENPJ CDK5RAP2
2 ciliary basal body-plasma membrane docking GO:0097711 9.56 CEP152 CEP135 CENPJ CDK5RAP2
3 cerebral cortex development GO:0021987 9.51 WDR62 MCPH1
4 neurogenesis GO:0022008 9.49 WDR62 CDK5RAP2
5 mitotic spindle organization GO:0007052 9.48 WDR62 STIL
6 establishment of mitotic spindle orientation GO:0000132 9.46 MCPH1 CDK5RAP2
7 protein localization to centrosome GO:0071539 9.43 STIL MCPH1
8 regulation of centriole replication GO:0046599 9.4 STIL CENPJ
9 positive regulation of establishment of protein localization GO:1904951 9.37 CEP135 CENPJ
10 centrosome duplication GO:0051298 9.33 STIL SASS6 CEP152
11 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.26 CEP152 CEP135 CENPJ CDK5RAP2
12 centriole replication GO:0007099 9.1 WDR62 SASS6 CEP152 CEP135 CENPJ CDK5RAP2

Molecular functions related to Microcephaly 9, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tubulin binding GO:0015631 8.96 CENPJ CDK5RAP2
2 gamma-tubulin binding GO:0043015 8.62 CENPJ CDK5RAP2

Sources for Microcephaly 9, Primary, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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