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 56 73 13 71
Primary Autosomal Recessive Microcephaly 9 12 29 6 15
Mcph9 56 12 73
Microcephaly, Type 9, Primary, Autosomal Recessive 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0070292
OMIM 56 614852
OMIM Phenotypic Series 56 PS251200
MeSH 43 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 microcephaly 15, primary, autosomal recessive. 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 brain and cortex, 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 : 56 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)

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 15, 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 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 34)
# Related Disease Score Top Affiliating Genes
1 seckel syndrome 1 9.9 CEP152 CENPJ
2 microcephaly 15, primary, autosomal recessive 9.9 ZNF335 CEP152
3 seckel syndrome 5 9.8 MCPH1 CEP152 CENPJ
4 microcephaly 1, primary, autosomal recessive 9.8 MCPH1 CEP152 CENPJ
5 seckel syndrome 2 9.7 CEP152 CENPJ CDK5RAP2
6 miller-dieker lissencephaly syndrome 9.6 WDR62 MCPH1 CDK5RAP2
7 microcephaly 13, primary, autosomal recessive 9.5 ZNF335 WDR62 MCPH1 CEP152
8 microcephaly 18, primary, autosomal dominant 9.5 ZNF335 MCPH1 CEP152 CENPJ
9 microcephaly 14, primary, autosomal recessive 9.5 ZNF335 WDR62 MCPH1 CEP152
10 seckel syndrome 4 9.4 MCPH1 CEP152 CENPJ CDK5RAP2
11 mirror movements 1 9.4 KNL1 CENPJ
12 microcephaly 10, primary, autosomal recessive 9.1 ZNF335 WDR62 MIR4528 CEP152 CEP135
13 band heterotopia 9.1 WDR62 STIL MCPH1 CENPJ CDK5RAP2
14 joubert syndrome 1 9.1 STIL CEP152 CEP135 CENPJ CDK5RAP2
15 periventricular nodular heterotopia 9.1 WDR62 STIL MCPH1 CENPJ CDK5RAP2
16 microcephalic osteodysplastic primordial dwarfism, type ii 8.9 STIL MCPH1 CEP152 CEP135 CENPJ CDK5RAP2
17 autosomal recessive non-syndromic intellectual disability 8.9 WDR62 STIL MCPH1 CEP152 CEP135 CDK5RAP2
18 physical disorder 8.7 WDR62 STIL MCPH1 CEP152 CEP135 CENPJ
19 microcephaly 11, primary, autosomal recessive 8.6 ZNF335 WDR62 MIR4528 MCPH1 CEP152 CEP135
20 microcephaly 17, primary, autosomal recessive 8.6 ZNF335 WDR62 STIL MCPH1 CEP152 CENPJ
21 isolated growth hormone deficiency, type ia 8.3 ZNF335 WDR62 STIL MCPH1 CEP152 CEP135
22 microcephaly 7, primary, autosomal recessive 8.3 WDR62 STIL MIR4528 MCPH1 CEP152 CEP135
23 microcephaly 6, primary, autosomal recessive 8.2 WDR62 STIL MIR4528 MCPH1 CEP152 CEP135
24 seckel syndrome 8.1 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
25 microcephaly 7.7 ZNF335 WDR62 STIL MCPH1 KNL1 CEP152
26 congenital nervous system abnormality 7.7 ZNF335 WDR62 STIL MCPH1 KNL1 CEP152
27 primary microcephaly 7.7 ZNF335 WDR62 STIL MCPH1 KNL1 CEP152
28 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 7.7 ZNF335 WDR62 STIL MCPH1 KNL1 CEP152
29 microcephaly 8, primary, autosomal recessive 7.6 WDR62 STIL MIR4528 MCPH1 KNL1 CEP152
30 microcephaly 12, primary, autosomal recessive 7.6 ZNF335 WDR62 MIR4528 MCPH1 KNL1 CEP152
31 primary autosomal recessive microcephaly 7.2 ZNF335 WDR62 STIL MIR4528 MCPH1 KNL1
32 microcephaly 5, primary, autosomal recessive 7.2 ZNF335 WDR62 STIL MIR4528 MCPH1 KNL1
33 microcephaly 3, primary, autosomal recessive 7.2 ZNF335 WDR62 STIL MIR4528 MCPH1 KNL1
34 microcephaly 4, primary, autosomal recessive 7.2 ZNF335 WDR62 STIL 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:

56
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

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

45
# 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 9.56 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
Brain, Cortex

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 56
22775483 2013
2
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. 6 56
20598275 2010
3
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6 61
20301772 2009
4
Kinetochore KMN network gene CASC5 mutated in primary microcephaly. 56
22983954 2012
5
Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. 56
15806441 2005
6
Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. 56
10521316 1999

Variations for Microcephaly 9, Primary, Autosomal Recessive

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

6 (show top 50) (show all 139) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP152 NM_001194998.2(CEP152):c.3212del (p.Leu1071fs)deletion Pathogenic 434736 rs1555418825 15:49048233-49048233 15:48756036-48756036
2 CEP152 NM_001194998.2(CEP152):c.3016del (p.Thr1006fs)deletion Pathogenic 158250 rs587783423 15:49048429-49048429 15:48756232-48756232
3 CEP152 NM_001194998.2(CEP152):c.2679del (p.Ser894fs)deletion Pathogenic 158244 rs587783421 15:49052347-49052347 15:48760150-48760150
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.3014_3015delinsT (p.Lys1005fs)indel Pathogenic 210686 rs869312853 15:49048430-49048431 15:48756233-48756234
6 CEP152 NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro)SNV Pathogenic/Likely pathogenic 55 rs267606717 15:49085556-49085556 15:48793359-48793359
7 CEP152 NM_001194998.2(CEP152):c.2959C>T (p.Arg987Ter)SNV Likely pathogenic 56 rs267606718 15:49048486-49048486 15:48756289-48756289
8 CEP152 NM_001194998.2(CEP152):c.780del (p.Asn260fs)deletion Likely pathogenic 623157 rs1567024512 15:49085570-49085570 15:48793373-48793373
9 CEP152 NM_001194998.2(CEP152):c.2148-17G>ASNV Likely pathogenic 800949 15:49059406-49059406 15:48767209-48767209
10 CEP152 NM_001194998.2(CEP152):c.3394C>G (p.Gln1132Glu)SNV Conflicting interpretations of pathogenicity 781990 15:49044618-49044618 15:48752421-48752421
11 CEP152 NM_001194998.2(CEP152):c.2826C>T (p.Asn942=)SNV Conflicting interpretations of pathogenicity 755782 15:49048619-49048619 15:48756422-48756422
12 CEP152 NM_001194998.2(CEP152):c.2262G>A (p.Glu754=)SNV Conflicting interpretations of pathogenicity 158242 rs149176738 15:49059275-49059275 15:48767078-48767078
13 CEP152 NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val)SNV Conflicting interpretations of pathogenicity 158246 rs117557829 15:49048668-49048668 15:48756471-48756471
14 CEP152 NM_001194998.2(CEP152):c.2681C>T (p.Ser894Phe)SNV Conflicting interpretations of pathogenicity 158245 rs145138194 15:49052345-49052345 15:48760148-48760148
15 CEP152 NM_001194998.2(CEP152):c.4744T>C (p.Ser1582Pro)SNV Conflicting interpretations of pathogenicity 158266 rs77745570 15:49030835-49030835 15:48738638-48738638
16 CEP152 NM_001194998.2(CEP152):c.3313C>G (p.Leu1105Val)SNV Conflicting interpretations of pathogenicity 158253 rs74553953 15:49048132-49048132 15:48755935-48755935
17 CEP152 NM_001194998.2(CEP152):c.5115A>G (p.Pro1705=)SNV Conflicting interpretations of pathogenicity 158272 rs1048042 15:49030464-49030464 15:48738267-48738267
18 CEP152 NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg)SNV Conflicting interpretations of pathogenicity 95651 rs201342438 15:49048567-49048567 15:48756370-48756370
19 CEP152 NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu)SNV Conflicting interpretations of pathogenicity 158262 rs149478199 15:49033819-49033819 15:48741622-48741622
20 CEP152 NM_001194998.2(CEP152):c.4T>A (p.Ser2Thr)SNV Conflicting interpretations of pathogenicity 316433 rs374200686 15:49097843-49097843 15:48805646-48805646
21 CEP152 NM_001194998.2(CEP152):c.4175T>C (p.Ile1392Thr)SNV Conflicting interpretations of pathogenicity 316410 rs186930123 15:49031404-49031404 15:48739207-48739207
22 CEP152 NM_001194998.2(CEP152):c.3780G>C (p.Gly1260=)SNV Conflicting interpretations of pathogenicity 316412 rs199777941 15:49036492-49036492 15:48744295-48744295
23 CEP152 NM_001194998.2(CEP152):c.925A>C (p.Lys309Gln)SNV Conflicting interpretations of pathogenicity 316429 rs199862615 15:49083481-49083481 15:48791284-48791284
24 CEP152 NM_001194998.2(CEP152):c.-77G>CSNV Conflicting interpretations of pathogenicity 316435 rs141463032 15:49103227-49103227 15:48811030-48811030
25 CEP152 NM_001194998.2(CEP152):c.996T>C (p.Thr332=)SNV Conflicting interpretations of pathogenicity 158277 rs199873069 15:49081175-49081175 15:48788978-48788978
26 CEP152 NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val)SNV Conflicting interpretations of pathogenicity 158224 rs181295720 15:49076311-49076311 15:48784114-48784114
27 CEP152 NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln)SNV Conflicting interpretations of pathogenicity 158257 rs188101277 15:49089694-49089694 15:48797497-48797497
28 CEP152 NM_001194998.2(CEP152):c.2018+9T>CSNV Conflicting interpretations of pathogenicity 158238 rs587783417 15:49060407-49060407 15:48768210-48768210
29 CEP152 NM_001194998.2(CEP152):c.1866G>T (p.Leu622=)SNV Conflicting interpretations of pathogenicity 158234 rs61737684 15:49061195-49061195 15:48768998-48768998
30 CEP152 NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)SNV Conflicting interpretations of pathogenicity 158240 rs182018947 15:49059645-49059645 15:48767448-48767448
31 CEP152 NM_001194998.2(CEP152):c.*255T>CSNV Conflicting interpretations of pathogenicity 316402 rs187213125 15:49030191-49030191 15:48737994-48737994
32 CEP152 NM_001194998.2(CEP152):c.767T>C (p.Ile256Thr)SNV Conflicting interpretations of pathogenicity 316430 rs201217824 15:49085583-49085583 15:48793386-48793386
33 CEP152 NM_001194998.2(CEP152):c.644G>A (p.Ser215Asn)SNV Conflicting interpretations of pathogenicity 316431 rs200957146 15:49088254-49088254 15:48796057-48796057
34 CEP152 NM_001194998.2(CEP152):c.4757G>C (p.Arg1586Pro)SNV Conflicting interpretations of pathogenicity 384842 rs202237336 15:49030822-49030822 15:48738625-48738625
35 CEP152 NM_001194998.2(CEP152):c.982A>C (p.Lys328Gln)SNV Conflicting interpretations of pathogenicity 388204 rs201942310 15:49081189-49081189 15:48788992-48788992
36 CEP152 NM_001194998.2(CEP152):c.35T>C (p.Val12Ala)SNV Uncertain significance 316432 rs191061766 15:49097812-49097812 15:48805615-48805615
37 CEP152 NM_001194998.2(CEP152):c.3378C>T (p.Ala1126=)SNV Uncertain significance 316416 rs200018103 15:49044634-49044634 15:48752437-48752437
38 CEP152 NM_001194998.2(CEP152):c.2928G>A (p.Glu976=)SNV Uncertain significance 316418 rs771359060 15:49048517-49048517 15:48756320-48756320
39 CEP152 NM_001194998.2(CEP152):c.2901A>G (p.Glu967=)SNV Uncertain significance 316419 rs886051262 15:49048544-49048544 15:48756347-48756347
40 CEP152 NM_001194998.2(CEP152):c.2523T>G (p.Ile841Met)SNV Uncertain significance 316421 rs886051263 15:49054627-49054627 15:48762430-48762430
41 CEP152 NM_001194998.2(CEP152):c.1258A>T (p.Ile420Phe)SNV Uncertain significance 316424 rs776999918 15:49076233-49076233 15:48784036-48784036
42 CEP152 NM_001194998.2(CEP152):c.3779G>A (p.Gly1260Glu)SNV Uncertain significance 316413 rs778040674 15:49036493-49036493 15:48744296-48744296
43 CEP152 NM_001194998.2(CEP152):c.3433C>A (p.Pro1145Thr)SNV Uncertain significance 316415 rs200055660 15:49044579-49044579 15:48752382-48752382
44 CEP152 NM_001194998.2(CEP152):c.3324C>T (p.Asn1108=)SNV Uncertain significance 316417 rs537168507 15:49048121-49048121 15:48755924-48755924
45 CEP152 NM_001194998.2(CEP152):c.1153G>T (p.Val385Phe)SNV Uncertain significance 316426 rs886051265 15:49081018-49081018 15:48788821-48788821
46 CEP152 NM_001194998.2(CEP152):c.962A>G (p.Asn321Ser)SNV Uncertain significance 316427 rs556609167 15:49083444-49083444 15:48791247-48791247
47 CEP152 NM_001194998.2(CEP152):c.133G>A (p.Asp45Asn)SNV Uncertain significance 158226 rs200227733 15:49090203-49090203 15:48798006-48798006
48 CEP152 NM_001194998.2(CEP152):c.2019G>A (p.Arg673=)SNV Uncertain significance 158239 rs587783418 15:49059660-49059660 15:48767463-48767463
49 CEP152 NM_001194998.2(CEP152):c.2018+10A>GSNV Uncertain significance 158237 rs374053407 15:49060406-49060406 15:48768209-48768209
50 CEP152 NM_001194998.2(CEP152):c.1565C>G (p.Ser522Cys)SNV Uncertain significance 158228 rs376452872 15:49073405-49073405 15:48781208-48781208

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 cytoskeleton GO:0005856 9.7 WDR62 STIL MCPH1 CEP152 CEP135 CENPJ
2 microtubule organizing center GO:0005815 9.65 WDR62 MCPH1 CEP152 CENPJ CDK5RAP2
3 centrosome GO:0005813 9.43 WDR62 STIL CEP152 CEP135 CENPJ CDK5RAP2
4 pericentriolar material GO:0000242 9.32 CEP152 CDK5RAP2
5 centriole GO:0005814 9.02 WDR62 STIL CEP152 CEP135 CENPJ

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

(show all 14)
# 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 9.54 WDR62 MCPH1
4 smoothened signaling pathway GO:0007224 9.52 STIL CENPJ
5 neurogenesis GO:0022008 9.51 WDR62 CDK5RAP2
6 mitotic spindle organization GO:0007052 9.49 WDR62 STIL
7 establishment of mitotic spindle orientation GO:0000132 9.48 MCPH1 CDK5RAP2
8 protein localization to centrosome GO:0071539 9.46 STIL MCPH1
9 regulation of centriole replication GO:0046599 9.43 STIL CENPJ
10 positive regulation of non-motile cilium assembly GO:1902857 9.4 CEP135 CENPJ
11 positive regulation of establishment of protein localization GO:1904951 9.37 CEP135 CENPJ
12 centrosome duplication GO:0051298 9.33 STIL CEP152 CENPJ
13 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.26 CEP152 CEP135 CENPJ CDK5RAP2
14 centriole replication GO:0007099 9.02 WDR62 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
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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