MCPH4
MCID: MCR254
MIFTS: 43

Microcephaly 4, Primary, Autosomal Recessive (MCPH4)

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

Aliases & Classifications for Microcephaly 4, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 4, Primary, Autosomal Recessive:

Name: Microcephaly 4, Primary, Autosomal Recessive 56 73 13 71
Primary Autosomal Recessive Microcephaly 4 12 29 6 15
Mcph4 56 12 73
Microcephaly, Type 4, Primary, Autosomal Recessive 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable dysmorphic features may be present


HPO:

31
microcephaly 4, primary, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070291
OMIM 56 604321
OMIM Phenotypic Series 56 PS251200
MeSH 43 D008831
MedGen 41 C1858516
UMLS 71 C1858516

Summaries for Microcephaly 4, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 73 Microcephaly 4, 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 4, Primary, Autosomal Recessive, also known as primary autosomal recessive microcephaly 4, is related to microcephaly 1, primary, autosomal recessive and microcephaly 7, primary, autosomal recessive. An important gene associated with Microcephaly 4, Primary, Autosomal Recessive is KNL1 (Kinetochore Scaffold 1), and among its related pathways/superpathways are Cell Cycle, Mitotic and Organelle biogenesis and maintenance. Affiliated tissues include brain and cortex, and related phenotypes are intellectual disability and hypertelorism

Disease Ontology : 12 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15.

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 (summary by Woods et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200). (604321)

Related Diseases for Microcephaly 4, 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 4, Primary, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 microcephaly 1, primary, autosomal recessive 29.7 MCPH1 CEP152 CENPJ ASPM
2 microcephaly 7, primary, autosomal recessive 27.7 WDR62 STIL MIR4528 MCPH1 CEP152 CEP135
3 microcephaly 6, primary, autosomal recessive 27.7 WDR62 STIL MIR4528 MCPH1 CEP152 CEP135
4 microcephaly 9, primary, autosomal recessive 27.3 ZNF335 WDR62 STIL MIR4528 MCPH1 KNL1
5 microcephaly 3, primary, autosomal recessive 26.6 ZNF335 WDR62 STIL MIR4528 MCPH1 KNL1
6 microcephaly 26.6 ZNF335 WDR62 STIL PHC1 MCPH1 KNL1
7 primary microcephaly 26.3 ZNF335 WDR62 STIL PHC1 MCPH1 KNL1
8 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 26.3 ZNF335 WDR62 STIL PHC1 MCPH1 KNL1
9 primary autosomal recessive microcephaly 25.3 ZNF335 WDR62 STIL PHC1 MIS12 MIR4528
10 seckel syndrome 1 10.0 CEP152 CENPJ
11 mirror movements 1 9.9 KNL1 CENPJ
12 seckel syndrome 5 9.9 MCPH1 CEP152 CENPJ
13 miller-dieker lissencephaly syndrome 9.9 WDR62 MCPH1 CDK5RAP2
14 seckel syndrome 2 9.9 CEP152 CENPJ CDK5RAP2
15 microcephaly 15, primary, autosomal recessive 9.9 ZNF335 CEP152
16 microcephaly 13, primary, autosomal recessive 9.6 ZNF335 WDR62 MCPH1 CEP152
17 microcephaly 14, primary, autosomal recessive 9.6 ZNF335 WDR62 MCPH1 CEP152
18 polyposis syndrome, hereditary mixed, 1 9.5 MIS12 CEP135
19 seckel syndrome 4 9.4 MCPH1 CEP152 CENPJ CDK5RAP2 ASPM
20 microcephaly 18, primary, autosomal dominant 9.2 ZNF335 MCPH1 CEP152 CENPJ ASPM
21 joubert syndrome 1 9.2 STIL CEP152 CEP135 CENPJ CDK5RAP2
22 band heterotopia 9.2 WDR62 STIL MCPH1 CENPJ CDK5RAP2 ASPM
23 autosomal recessive non-syndromic intellectual disability 9.2 WDR62 STIL MCPH1 CEP152 CEP135 CDK5RAP2
24 periventricular nodular heterotopia 9.2 WDR62 STIL MCPH1 CENPJ CDK5RAP2 ASPM
25 microcephalic osteodysplastic primordial dwarfism, type ii 8.9 STIL MCPH1 CEP152 CEP135 CENPJ CDK5RAP2
26 physical disorder 8.7 WDR62 STIL MCPH1 CEP152 CEP135 CENPJ
27 microcephaly 17, primary, autosomal recessive 8.6 ZNF335 WDR62 STIL MCPH1 CEP152 CENPJ
28 microcephaly 10, primary, autosomal recessive 8.5 ZNF335 WDR62 PHC1 MIR4528 CEP152 CEP135
29 microcephaly 8, primary, autosomal recessive 8.4 WDR62 STIL MIR4528 MCPH1 KNL1 CEP152
30 isolated growth hormone deficiency, type ia 8.2 ZNF335 WDR62 STIL MCPH1 CEP152 CEP135
31 microcephaly 12, primary, autosomal recessive 8.2 ZNF335 WDR62 MIR4528 MCPH1 KNL1 CEP152
32 microcephaly 11, primary, autosomal recessive 8.0 ZNF335 WDR62 PHC1 MIR4528 MCPH1 CEP152
33 congenital nervous system abnormality 8.0 ZNF335 WDR62 STIL MCPH1 KNL1 CEP152
34 seckel syndrome 7.9 WDR62 STIL PHC1 MCPH1 KNL1 CEP152
35 microcephaly 5, primary, autosomal recessive 7.0 ZNF335 WDR62 STIL PHC1 MIR4528 MCPH1

Graphical network of the top 20 diseases related to Microcephaly 4, Primary, Autosomal Recessive:



Diseases related to Microcephaly 4, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 4, Primary, Autosomal Recessive

Human phenotypes related to Microcephaly 4, Primary, Autosomal Recessive:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 hypertelorism 31 HP:0000316
3 delayed speech and language development 31 HP:0000750
4 microcephaly 31 HP:0000252
5 thick eyebrow 31 HP:0000574
6 micrognathia 31 HP:0000347
7 synophrys 31 HP:0000664
8 sloping forehead 31 HP:0000340
9 aggressive behavior 31 HP:0000718
10 impulsivity 31 HP:0100710
11 bimanual synkinesia 31 HP:0001335

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
synophrys
thick eyebrows

Neurologic Central Nervous System:
speech delay
mental retardation, mild to moderate
small brain

Head And Neck Nose:
low columella

Head And Neck Face:
micrognathia
sloping forehead
low hairline

Head And Neck Head:
microcephaly (-4 to -7 sd)

Clinical features from OMIM:

604321

MGI Mouse Phenotypes related to Microcephaly 4, Primary, Autosomal Recessive:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.97 ASPM CDK5RAP2 CENPJ CEP152 KNL1 MCPH1
2 growth/size/body region MP:0005378 9.97 ASPM CDK5RAP2 CENPJ CEP135 KNL1 MCPH1
3 hematopoietic system MP:0005397 9.86 ASPM CDK5RAP2 CENPJ KNL1 MCPH1 PHC1
4 immune system MP:0005387 9.76 ASPM CDK5RAP2 CENPJ KNL1 MCPH1 PHC1
5 nervous system MP:0003631 9.61 ASPM CDK5RAP2 CENPJ CEP152 KNL1 MCPH1
6 vision/eye MP:0005391 9.17 CDK5RAP2 CENPJ CEP135 KNL1 MCPH1 PHC1

Drugs & Therapeutics for Microcephaly 4, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 4, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 4, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 4, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 4 29 KNL1

Anatomical Context for Microcephaly 4, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 4, Primary, Autosomal Recessive:

40
Brain, Cortex

Publications for Microcephaly 4, Primary, Autosomal Recessive

Articles related to Microcephaly 4, Primary, Autosomal Recessive:

(show all 12)
# Title Authors PMID Year
1
Kinetochore KMN network gene CASC5 mutated in primary microcephaly. 6 56 61
22983954 2012
2
Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. 6 56 61
10521316 1999
3
First clinical report of an infant with microcephaly and CASC5 mutations. 56 6
27149178 2016
4
Refining the phenotype associated with CASC5 mutation. 56 6
26626498 2016
5
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. 61 56
20598275 2010
6
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61 6
20301772 2009
7
Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. 56
15806441 2005
8
D40/KNL1/CASC5 and autosomal recessive primary microcephaly. 61
28901661 2017
9
A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family. 61
26621532 2016
10
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. 61
20978018 2010
11
Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene. 61
16673149 2006
12
Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. 61
12362027 2002

Variations for Microcephaly 4, Primary, Autosomal Recessive

ClinVar genetic disease variations for Microcephaly 4, Primary, Autosomal Recessive:

6 (show top 50) (show all 105) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KNL1 NM_144508.5(KNL1):c.6045G>A (p.Met2015Ile)SNV Pathogenic 39707 15:40939223-40939223 15:40647025-40647025
2 KNL1 NM_144508.5(KNL1):c.5184dup (p.Ile1729fs)duplication Pathogenic 217515 rs863225127 15:40917645-40917646 15:40625447-40625448
3 KNL1 NM_144508.5(KNL1):c.694del (p.Asp232fs)deletion Likely pathogenic 210578 rs797045430 15:40913156-40913156 15:40620958-40620958
4 KNL1 NM_144508.5(KNL1):c.4745_4746delinsC (p.Leu1582fs)indel Likely pathogenic 434584 rs1555420891 15:40917207-40917208 15:40625009-40625010
5 KNL1 NM_144508.5(KNL1):c.1521A>G (p.Gln507=)SNV Likely pathogenic 495235 rs979186313 15:40913983-40913983 15:40621785-40621785
6 KNL1 NM_144508.5(KNL1):c.6349G>T (p.Asp2117Tyr)SNV Likely pathogenic 495234 rs758157294 15:40944237-40944237 15:40652039-40652039
7 KNL1 NM_144508.5(KNL1):c.6043A>C (p.Met2015Leu)SNV Conflicting interpretations of pathogenicity 730228 15:40939221-40939221 15:40647023-40647023
8 KNL1 NM_144508.5(KNL1):c.4772A>G (p.Asn1591Ser)SNV Conflicting interpretations of pathogenicity 420525 rs200656662 15:40917234-40917234 15:40625036-40625036
9 KNL1 NM_144508.5(KNL1):c.4231G>A (p.Gly1411Arg)SNV Conflicting interpretations of pathogenicity 434582 rs150569450 15:40916693-40916693 15:40624495-40624495
10 KNL1 NM_144508.5(KNL1):c.5631C>T (p.Leu1877=)SNV Conflicting interpretations of pathogenicity 128584 rs201853975 15:40921518-40921518 15:40629320-40629320
11 KNL1 NM_144508.5(KNL1):c.5271C>T (p.Cys1757=)SNV Conflicting interpretations of pathogenicity 210571 rs191249840 15:40917733-40917733 15:40625535-40625535
12 KNL1 NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly)SNV Conflicting interpretations of pathogenicity 210577 rs142872154 15:40947173-40947173 15:40654975-40654975
13 KNL1 NM_144508.5(KNL1):c.5064G>C (p.Pro1688=)SNV Conflicting interpretations of pathogenicity 739413 15:40917526-40917526 15:40625328-40625328
14 KNL1 NM_144508.5(KNL1):c.5112C>T (p.Asn1704=)SNV Conflicting interpretations of pathogenicity 739302 15:40917574-40917574 15:40625376-40625376
15 KNL1 NM_144508.5(KNL1):c.5607A>C (p.Thr1869=)SNV Conflicting interpretations of pathogenicity 741731 15:40921494-40921494 15:40629296-40629296
16 KNL1 NM_144508.5(KNL1):c.3999C>T (p.Cys1333=)SNV Conflicting interpretations of pathogenicity 315859 rs373793762 15:40916461-40916461 15:40624263-40624263
17 KNL1 NM_144508.5(KNL1):c.4619G>A (p.Gly1540Glu)SNV Conflicting interpretations of pathogenicity 315864 rs183316447 15:40917081-40917081 15:40624883-40624883
18 KNL1 NM_144508.5(KNL1):c.5538A>G (p.Glu1846=)SNV Conflicting interpretations of pathogenicity 315869 rs180678267 15:40920831-40920831 15:40628633-40628633
19 KNL1 NM_144508.5(KNL1):c.812C>G (p.Thr271Ser)SNV Conflicting interpretations of pathogenicity 315844 rs201037775 15:40913274-40913274 15:40621076-40621076
20 KNL1 NM_144508.5(KNL1):c.6594+10G>ASNV Conflicting interpretations of pathogenicity 315872 rs200845312 15:40949359-40949359 15:40657161-40657161
21 KNL1 NM_144508.5(KNL1):c.-17-15G>ASNV Uncertain significance 315840 rs186815033 15:40895098-40895098 15:40602900-40602900
22 KNL1 NM_144508.5(KNL1):c.2963T>A (p.Val988Glu)SNV Uncertain significance 315856 rs886051138 15:40915425-40915425 15:40623227-40623227
23 KNL1 NM_144508.5(KNL1):c.4483A>C (p.Ser1495Arg)SNV Uncertain significance 315862 rs781736494 15:40916945-40916945 15:40624747-40624747
24 KNL1 NM_144508.5(KNL1):c.5235G>T (p.Glu1745Asp)SNV Uncertain significance 315866 rs886051141 15:40917697-40917697 15:40625499-40625499
25 KNL1 NM_144508.5(KNL1):c.5626C>G (p.Leu1876Val)SNV Uncertain significance 315870 rs369488649 15:40921513-40921513 15:40629315-40629315
26 KNL1 NM_144508.5(KNL1):c.1214A>G (p.Asp405Gly)SNV Uncertain significance 374462 rs113313996 15:40913676-40913676 15:40621478-40621478
27 KNL1 NM_144508.5(KNL1):c.1560C>T (p.Leu520=)SNV Uncertain significance 315847 rs765012826 15:40914022-40914022 15:40621824-40621824
28 KNL1 NM_144508.5(KNL1):c.1636A>G (p.Arg546Gly)SNV Uncertain significance 315848 rs771812329 15:40914098-40914098 15:40621900-40621900
29 KNL1 NM_144508.5(KNL1):c.1768G>T (p.Ala590Ser)SNV Uncertain significance 315849 rs201334214 15:40914230-40914230 15:40622032-40622032
30 KNL1 NM_144508.5(KNL1):c.2323G>T (p.Gly775Cys)SNV Uncertain significance 315852 rs754128699 15:40914785-40914785 15:40622587-40622587
31 KNL1 NM_144508.5(KNL1):c.2634T>C (p.Tyr878=)SNV Uncertain significance 315853 rs774999750 15:40915096-40915096 15:40622898-40622898
32 KNL1 NM_144508.5(KNL1):c.3573A>G (p.Ile1191Met)SNV Uncertain significance 315857 rs200222327 15:40916035-40916035 15:40623837-40623837
33 KNL1 NM_144508.5(KNL1):c.3881C>T (p.Ala1294Val)SNV Uncertain significance 315858 rs753156438 15:40916343-40916343 15:40624145-40624145
34 KNL1 NM_144508.5(KNL1):c.6497C>G (p.Pro2166Arg)SNV Uncertain significance 315871 rs532623099 15:40949252-40949252 15:40657054-40657054
35 KNL1 NM_144508.5(KNL1):c.6594+14G>CSNV Uncertain significance 315873 rs374302027 15:40949363-40949363 15:40657165-40657165
36 KNL1 NM_144508.5(KNL1):c.*201A>GSNV Uncertain significance 315874 rs117802190 15:40954587-40954587 15:40662389-40662389
37 KNL1 NM_144508.5(KNL1):c.144T>C (p.Asn48=)SNV Uncertain significance 315842 rs763938698 15:40901053-40901053 15:40608855-40608855
38 KNL1 NM_144508.5(KNL1):c.5401G>A (p.Asp1801Asn)SNV Uncertain significance 315867 rs886051142 15:40920292-40920292 15:40628094-40628094
39 KNL1 NM_144508.5(KNL1):c.4550A>T (p.Asn1517Ile)SNV Uncertain significance 315863 rs886051139 15:40917012-40917012 15:40624814-40624814
40 KNL1 NM_144508.5(KNL1):c.1817A>G (p.Lys606Arg)SNV Uncertain significance 807211 15:40914279-40914279 15:40622081-40622081
41 KNL1 NM_144508.5(KNL1):c.-100C>GSNV Uncertain significance 885428 15:40886508-40886508 15:40594310-40594310
42 KNL1 NM_144508.5(KNL1):c.-13G>TSNV Uncertain significance 885429 15:40895117-40895117 15:40602919-40602919
43 KNL1 NM_144508.5(KNL1):c.10G>T (p.Val4Leu)SNV Uncertain significance 885430 15:40895139-40895139 15:40602941-40602941
44 KNL1 NM_144508.5(KNL1):c.21G>A (p.Glu7=)SNV Uncertain significance 885431 15:40895150-40895150 15:40602952-40602952
45 KNL1 NM_144508.5(KNL1):c.143A>G (p.Asn48Ser)SNV Uncertain significance 886450 15:40901052-40901052 15:40608854-40608854
46 KNL1 NM_144508.5(KNL1):c.744G>A (p.Pro248=)SNV Uncertain significance 884556 15:40913206-40913206 15:40621008-40621008
47 KNL1 NM_144508.5(KNL1):c.949G>A (p.Asp317Asn)SNV Uncertain significance 884557 15:40913411-40913411 15:40621213-40621213
48 KNL1 NM_144508.5(KNL1):c.1203T>C (p.Thr401=)SNV Uncertain significance 884558 15:40913665-40913665 15:40621467-40621467
49 KNL1 NM_144508.5(KNL1):c.1352A>G (p.Asn451Ser)SNV Uncertain significance 885490 15:40913814-40913814 15:40621616-40621616
50 KNL1 NM_144508.5(KNL1):c.1429A>G (p.Ile477Val)SNV Uncertain significance 885491 15:40913891-40913891 15:40621693-40621693

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 4, Primary, Autosomal Recessive:

73
# Symbol AA change Variation ID SNP ID
1 KNL1 p.Met2041Ile VAR_069085 rs763915472

Expression for Microcephaly 4, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 4, Primary, Autosomal Recessive.

Pathways for Microcephaly 4, Primary, Autosomal Recessive

Pathways related to Microcephaly 4, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.33 MIS12 MCPH1 KNL1 CEP152 CEP135 CENPJ
2
Show member pathways
11.98 CEP152 CEP135 CENPJ CDK5RAP2

GO Terms for Microcephaly 4, Primary, Autosomal Recessive

Cellular components related to Microcephaly 4, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.76 WDR62 STIL MCPH1 CEP152 CEP135 CENPJ
2 microtubule organizing center GO:0005815 9.65 WDR62 MCPH1 CEP152 CENPJ CDK5RAP2
3 spindle pole GO:0000922 9.5 WDR62 CDK5RAP2 ASPM
4 mitotic spindle pole GO:0097431 9.4 CDK5RAP2 ASPM
5 pericentriolar material GO:0000242 9.37 CEP152 CDK5RAP2
6 centriole GO:0005814 9.35 WDR62 STIL CEP152 CEP135 CENPJ
7 centrosome GO:0005813 9.17 WDR62 STIL CEP152 CEP135 CENPJ CDK5RAP2

Biological processes related to Microcephaly 4, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.81 MIS12 KNL1 CENPJ ASPM
2 brain development GO:0007420 9.75 ZNF335 CDK5RAP2 ASPM
3 chromosome segregation GO:0007059 9.65 MIS12 KNL1 CDK5RAP2
4 G2/M transition of mitotic cell cycle GO:0000086 9.62 CEP152 CEP135 CENPJ CDK5RAP2
5 cerebral cortex development GO:0021987 9.61 WDR62 MCPH1 ASPM
6 mitotic spindle organization GO:0007052 9.57 WDR62 STIL
7 establishment of mitotic spindle orientation GO:0000132 9.56 MCPH1 CDK5RAP2
8 ciliary basal body-plasma membrane docking GO:0097711 9.56 CEP152 CEP135 CENPJ CDK5RAP2
9 neuronal stem cell population maintenance GO:0097150 9.55 MCPH1 ASPM
10 positive regulation of neuroblast proliferation GO:0002052 9.54 ZNF335 ASPM
11 protein localization to centrosome GO:0071539 9.52 STIL MCPH1
12 protein localization to kinetochore GO:0034501 9.49 MIS12 KNL1
13 regulation of centriole replication GO:0046599 9.46 STIL CENPJ
14 positive regulation of non-motile cilium assembly GO:1902857 9.4 CEP135 CENPJ
15 positive regulation of establishment of protein localization GO:1904951 9.37 CEP135 CENPJ
16 centrosome duplication GO:0051298 9.33 STIL CEP152 CENPJ
17 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.26 CEP152 CEP135 CENPJ CDK5RAP2
18 centriole replication GO:0007099 9.02 WDR62 CEP152 CEP135 CENPJ CDK5RAP2

Molecular functions related to Microcephaly 4, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.73 ZNF335 WDR62 STIL PHC1 MIS12 MCPH1
2 gamma-tubulin binding GO:0043015 8.62 CENPJ CDK5RAP2

Sources for Microcephaly 4, 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
41 MedGen
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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