MCPH7
MCID: MCR238
MIFTS: 42

Microcephaly 7, Primary, Autosomal Recessive (MCPH7)

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

Aliases & Classifications for Microcephaly 7, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 7, Primary, Autosomal Recessive:

Name: Microcephaly 7, Primary, Autosomal Recessive 57 72 13
Primary Autosomal Recessive Microcephaly 7 12 29 6 15
Mcph7 57 12 72
Microcephaly, Primary Autosomal Recessive, 7 70

Characteristics:

OMIM®:

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

Miscellaneous:
onset at birth


HPO:

31
microcephaly 7, primary, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0070278
OMIM® 57 612703
OMIM Phenotypic Series 57 PS251200
MeSH 44 D008831
MedGen 41 C2675187
UMLS 70 C2675187

Summaries for Microcephaly 7, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Microcephaly 7, 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 7, Primary, Autosomal Recessive, also known as primary autosomal recessive microcephaly 7, is related to neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities and seckel syndrome 1. An important gene associated with Microcephaly 7, Primary, Autosomal Recessive is STIL (STIL Centriolar Assembly Protein), 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 simplified gyral pattern and intellectual disability

Disease Ontology : 12 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33.

More information from OMIM: 612703 PS251200

Related Diseases for Microcephaly 7, 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 7, Primary, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities 10.2 STIL CEP152
2 seckel syndrome 1 10.0 CEP152 CENPJ
3 microcephaly 13, primary, autosomal recessive 10.0 WDR62 MCPH1 CEP152
4 seckel syndrome 6 9.9 CEP63 CEP152
5 miller-dieker lissencephaly syndrome 9.9 WDR62 MCPH1 CDK5RAP2
6 polyposis syndrome, hereditary mixed, 1 9.9 SASS6 CEP135
7 corneal dystrophy, meesmann, 1 9.9 SASS6 CEP152
8 seckel syndrome 2 9.8 MCPH1 CEP152 CENPJ CDK5RAP2
9 microcephaly 1, primary, autosomal recessive 9.7 MCPH1 CEP152 CENPJ ASPM
10 mirror movements 1 9.7 KNL1 CENPJ
11 mosaic variegated aneuploidy syndrome 9.7 CEP63 CEP152
12 autosomal recessive non-syndromic intellectual disability 9.6 WDR62 STIL MCPH1 CEP152 CDK5RAP2
13 seckel syndrome 5 9.6 MCPH1 CEP63 CEP152 CENPJ
14 seckel syndrome 4 9.6 MCPH1 CEP152 CENPJ CDK5RAP2 ASPM
15 microcephaly 14, primary, autosomal recessive 9.6 WDR62 STIL SASS6 CEP152 CENPJ
16 band heterotopia 9.6 WDR62 MCPH1 CENPJ CDK5RAP2 ASPM
17 microcephaly 10, primary, autosomal recessive 9.5 WDR62 MIR4528 CEP152 CEP135 CENPJ
18 periventricular nodular heterotopia 9.4 WDR62 STIL MCPH1 CENPJ CDK5RAP2 ASPM
19 microcephaly 17, primary, autosomal recessive 9.3 WDR62 STIL MCPH1 CEP152 CENPJ CDK5RAP2
20 microcephaly 11, primary, autosomal recessive 9.3 WDR62 MIR4528 MCPH1 CEP152 CEP135 CENPJ
21 microcephaly 18, primary, autosomal dominant 9.2 SASS6 MCPH1 CEP152 CEP135 CENPJ ASPM
22 physical disorder 9.1 WDR62 STIL MCPH1 CEP152 CEP135 CENPJ
23 joubert syndrome 1 9.0 STIL SASS6 CEP63 CEP152 CEP135 CENPJ
24 microcephalic osteodysplastic primordial dwarfism, type ii 8.9 STIL MCPH1 CEP63 CEP152 CEP135 CENPJ
25 microcephaly 12, primary, autosomal recessive 8.9 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
26 isolated growth hormone deficiency 8.7 WDR62 STIL SASS6 CEP63 CEP152 CEP135
27 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 8.6 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
28 microcephaly 8, primary, autosomal recessive 8.6 WDR62 STIL MIR4528 MCPH1 KNL1 CEP152
29 microcephaly 6, primary, autosomal recessive 8.3 WDR62 STIL MIR4528 MCPH1 KNL1 CEP152
30 microcephaly 4, primary, autosomal recessive 8.3 WDR62 STIL MIR4528 MCPH1 KNL1 CEP152
31 microcephaly 5, primary, autosomal recessive 8.3 WDR62 STIL MCPH1 KNL1 CEP63 CEP152
32 microcephaly 9, primary, autosomal recessive 8.3 WDR62 STIL SASS6 MIR4528 MCPH1 KNL1
33 microcephaly 8.0 WDR62 STIL SASS6 MCPH1 KNL1 CEP63
34 congenital nervous system abnormality 8.0 WDR62 STIL SASS6 MCPH1 KNL1 CEP63
35 primary microcephaly 8.0 WDR62 STIL SASS6 MCPH1 KNL1 CEP63
36 seckel syndrome 8.0 WDR62 STIL SASS6 MCPH1 KNL1 CEP63
37 isolated growth hormone deficiency, type ia 8.0 WDR62 STIL SASS6 MCPH1 KNL1 CEP63
38 primary autosomal recessive microcephaly 7.7 WDR62 STIL SASS6 MIR4528 MCPH1 KNL1
39 microcephaly 3, primary, autosomal recessive 7.7 WDR62 STIL SASS6 MIR4528 MCPH1 KNL1

Graphical network of the top 20 diseases related to Microcephaly 7, Primary, Autosomal Recessive:



Diseases related to Microcephaly 7, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 7, Primary, Autosomal Recessive

Human phenotypes related to Microcephaly 7, Primary, Autosomal Recessive:

31
# Description HPO Frequency HPO Source Accession
1 simplified gyral pattern 31 occasional (7.5%) HP:0009879
2 intellectual disability 31 HP:0001249
3 microcephaly 31 HP:0000252
4 sloping forehead 31 HP:0000340

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
sloping forehead
microcephaly, primary (up to -10 sd)

Neurologic Central Nervous System:
intellectual disability, mild to severe
lobar holoposencephaly on brain imaging (1 family)
simplified gyral pattern (1 family)

Head And Neck Face:
prominent midface

Clinical features from OMIM®:

612703 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Microcephaly 7, Primary, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.81 ASPM CDK5RAP2 CENPJ CEP152 CEP63 KNL1
2 growth/size/body region MP:0005378 9.61 ASPM CDK5RAP2 CENPJ CEP135 CEP63 KNL1
3 nervous system MP:0003631 9.28 ASPM CDK5RAP2 CENPJ CEP152 CEP63 KNL1

Drugs & Therapeutics for Microcephaly 7, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 7, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 7, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 7, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 7 29 STIL

Anatomical Context for Microcephaly 7, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 7, Primary, Autosomal Recessive:

40
Cortex, Brain

Publications for Microcephaly 7, Primary, Autosomal Recessive

Articles related to Microcephaly 7, Primary, Autosomal Recessive:

(show all 12)
# Title Authors PMID Year
1
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. 6 57 61
25218063 2015
2
Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. 61 57 6
19215732 2009
3
Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations. 6 57
22989186 2013
4
Novel compound heterozygous variants in the STIL gene identified in a Chinese family with presentation of foetal microcephaly. 61 6
33132204 2020
5
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. 57 61
20978018 2010
6
Exploring evolution of brain genes involved in microcephaly through phylogeny and synteny analysis. 61
24148351 2013
7
Crystal structures of the CPAP/STIL complex reveal its role in centriole assembly and human microcephaly. 61
24052813 2013
8
Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations. 61
21496009 2011
9
Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly. 61
21857152 2011
10
WDR62 is associated with the spindle pole and is mutated in human microcephaly. 61
20890279 2010
11
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. 61
20598275 2010
12
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301772 2009

Variations for Microcephaly 7, Primary, Autosomal Recessive

ClinVar genetic disease variations for Microcephaly 7, Primary, Autosomal Recessive:

6 (show top 50) (show all 111)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STIL NM_001048166.1(STIL):c.3718C>T (p.Gln1240Ter) SNV Pathogenic 12948 rs121918609 GRCh37: 1:47716957-47716957
GRCh38: 1:47251285-47251285
2 STIL NM_001048166.1(STIL):c.3658del (p.Leu1219_Val1220insTer) Deletion Pathogenic 12949 rs199422207 GRCh37: 1:47717017-47717017
GRCh38: 1:47251345-47251345
3 STIL NM_001048166.1(STIL):c.2829+1G>A SNV Pathogenic 12950 rs199422206 GRCh37: 1:47728574-47728574
GRCh38: 1:47262902-47262902
4 STIL NM_001048166.1(STIL):c.2393T>G (p.Leu798Trp) SNV Pathogenic 91843 rs398122976 GRCh37: 1:47735529-47735529
GRCh38: 1:47269857-47269857
5 STIL NM_001048166.1(STIL):c.453+5G>A SNV Pathogenic 218244 rs863225464 GRCh37: 1:47767228-47767228
GRCh38: 1:47301556-47301556
6 STIL NM_001048166.1(STIL):c.3429del (p.Asp1144fs) Deletion Pathogenic 1032104 GRCh37: 1:47717246-47717246
GRCh38: 1:47251574-47251574
7 STIL NM_001048166.1(STIL):c.2344_2347del (p.Leu782fs) Deletion Likely pathogenic 977229 GRCh37: 1:47737784-47737787
GRCh38: 1:47272112-47272115
8 STIL NM_001048166.1(STIL):c.3838C>T (p.Arg1280Cys) SNV Likely pathogenic 502127 rs199634446 GRCh37: 1:47716837-47716837
GRCh38: 1:47251165-47251165
9 STIL NM_001048166.1(STIL):c.895T>A (p.Phe299Ile) SNV Likely pathogenic 160069 rs587784452 GRCh37: 1:47755235-47755235
GRCh38: 1:47289563-47289563
10 STIL NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) SNV Conflicting interpretations of pathogenicity 160052 rs139912214 GRCh37: 1:47746675-47746675
GRCh38: 1:47281003-47281003
11 STIL NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu) SNV Uncertain significance 212323 rs144746030 GRCh37: 1:47717094-47717094
GRCh38: 1:47251422-47251422
12 STIL NM_001048166.1(STIL):c.3579G>A (p.Thr1193=) SNV Uncertain significance 873842 GRCh37: 1:47717096-47717096
GRCh38: 1:47251424-47251424
13 STIL NM_001048166.1(STIL):c.3563G>T (p.Gly1188Val) SNV Uncertain significance 873843 GRCh37: 1:47717112-47717112
GRCh38: 1:47251440-47251440
14 STIL NM_001048166.1(STIL):c.3494T>C (p.Leu1165Pro) SNV Uncertain significance 873844 GRCh37: 1:47717181-47717181
GRCh38: 1:47251509-47251509
15 STIL NM_001048166.1(STIL):c.3491A>T (p.Gln1164Leu) SNV Uncertain significance 873845 GRCh37: 1:47717184-47717184
GRCh38: 1:47251512-47251512
16 STIL NM_001048166.1(STIL):c.1576T>G (p.Ser526Ala) SNV Uncertain significance 873893 GRCh37: 1:47746554-47746554
GRCh38: 1:47280882-47280882
17 STIL NM_001048166.1(STIL):c.1550A>G (p.His517Arg) SNV Uncertain significance 873894 GRCh37: 1:47746580-47746580
GRCh38: 1:47280908-47280908
18 STIL NM_001048166.1(STIL):c.1264C>A (p.Pro422Thr) SNV Uncertain significance 546576 rs888258532 GRCh37: 1:47746866-47746866
GRCh38: 1:47281194-47281194
19 STIL NM_001048166.1(STIL):c.2829G>C (p.Leu943Phe) SNV Uncertain significance 875728 GRCh37: 1:47728575-47728575
GRCh38: 1:47262903-47262903
20 STIL NM_001048166.1(STIL):c.2456A>G (p.Lys819Arg) SNV Uncertain significance 875729 GRCh37: 1:47735466-47735466
GRCh38: 1:47269794-47269794
21 STIL NM_001048166.1(STIL):c.2359G>A (p.Gly787Ser) SNV Uncertain significance 875730 GRCh37: 1:47737772-47737772
GRCh38: 1:47272100-47272100
22 STIL NM_001048166.1(STIL):c.521A>G (p.His174Arg) SNV Uncertain significance 875777 GRCh37: 1:47765757-47765757
GRCh38: 1:47300085-47300085
23 STIL NM_001048166.1(STIL):c.481G>T (p.Asp161Tyr) SNV Uncertain significance 875778 GRCh37: 1:47765797-47765797
GRCh38: 1:47300125-47300125
24 STIL NM_001048166.1(STIL):c.460C>A (p.Gln154Lys) SNV Uncertain significance 875779 GRCh37: 1:47765818-47765818
GRCh38: 1:47300146-47300146
25 STIL NM_001048166.1(STIL):c.454-10G>A SNV Uncertain significance 737418 rs1045195933 GRCh37: 1:47765834-47765834
GRCh38: 1:47300162-47300162
26 STIL NM_001048166.1(STIL):c.265+14A>T SNV Uncertain significance 875780 GRCh37: 1:47767892-47767892
GRCh38: 1:47302220-47302220
27 STIL NM_001048166.1(STIL):c.*203C>T SNV Uncertain significance 876677 GRCh37: 1:47716605-47716605
GRCh38: 1:47250933-47250933
28 STIL NM_001048166.1(STIL):c.*2C>T SNV Uncertain significance 876678 GRCh37: 1:47716806-47716806
GRCh38: 1:47251134-47251134
29 STIL NM_001048166.1(STIL):c.3839G>A (p.Arg1280His) SNV Uncertain significance 876679 GRCh37: 1:47716836-47716836
GRCh38: 1:47251164-47251164
30 STIL NM_001048166.1(STIL):c.2847A>G (p.Leu949=) SNV Uncertain significance 297553 rs766451599 GRCh37: 1:47726194-47726194
GRCh38: 1:47260522-47260522
31 STIL NM_001048166.1(STIL):c.*978T>C SNV Uncertain significance 297542 rs886046388 GRCh37: 1:47715830-47715830
GRCh38: 1:47250158-47250158
32 STIL NM_001048166.1(STIL):c.1699C>T (p.Pro567Ser) SNV Uncertain significance 297559 rs778747630 GRCh37: 1:47746431-47746431
GRCh38: 1:47280759-47280759
33 STIL NM_001048166.1(STIL):c.-121C>T SNV Uncertain significance 297572 rs541027571 GRCh37: 1:47779785-47779785
GRCh38: 1:47314113-47314113
34 STIL NM_001048166.1(STIL):c.2350A>T (p.Met784Leu) SNV Uncertain significance 297556 rs368689118 GRCh37: 1:47737781-47737781
GRCh38: 1:47272109-47272109
35 STIL NM_001048166.1(STIL):c.1005A>G (p.Glu335=) SNV Uncertain significance 297563 rs149296029 GRCh37: 1:47755125-47755125
GRCh38: 1:47289453-47289453
36 STIL NM_001048166.1(STIL):c.1421A>G (p.His474Arg) SNV Uncertain significance 297561 rs886046391 GRCh37: 1:47746709-47746709
GRCh38: 1:47281037-47281037
37 STIL NM_001048166.1(STIL):c.*599A>G SNV Uncertain significance 297545 rs886046389 GRCh37: 1:47716209-47716209
GRCh38: 1:47250537-47250537
38 STIL NM_001048166.1(STIL):c.3207T>C (p.Ala1069=) SNV Uncertain significance 297552 rs778016364 GRCh37: 1:47717468-47717468
GRCh38: 1:47251796-47251796
39 STIL NM_001048166.1(STIL):c.2687G>T (p.Ser896Ile) SNV Uncertain significance 297554 rs745904390 GRCh37: 1:47728717-47728717
GRCh38: 1:47263045-47263045
40 STIL NM_001048166.1(STIL):c.-65C>G SNV Uncertain significance 297570 rs886046393 GRCh37: 1:47779729-47779729
GRCh38: 1:47314057-47314057
41 STIL NM_001048166.1(STIL):c.-121C>G SNV Uncertain significance 297573 rs541027571 GRCh37: 1:47779785-47779785
GRCh38: 1:47314113-47314113
42 STIL NM_001048166.1(STIL):c.1229C>G (p.Pro410Arg) SNV Uncertain significance 225064 rs202194355 GRCh37: 1:47748036-47748036
GRCh38: 1:47282364-47282364
43 STIL NM_001048166.1(STIL):c.*883A>G SNV Uncertain significance 297543 rs181941312 GRCh37: 1:47715925-47715925
GRCh38: 1:47250253-47250253
44 STIL NM_001048166.1(STIL):c.1667C>T (p.Ser556Phe) SNV Uncertain significance 297560 rs752376811 GRCh37: 1:47746463-47746463
GRCh38: 1:47280791-47280791
45 STIL NM_001048166.1(STIL):c.2087A>T (p.Asn696Ile) SNV Uncertain significance 297557 rs886046390 GRCh37: 1:47746043-47746043
GRCh38: 1:47280371-47280371
46 STIL NM_001048166.1(STIL):c.2362G>A (p.Val788Ile) SNV Uncertain significance 194209 rs149697952 GRCh37: 1:47737769-47737769
GRCh38: 1:47272097-47272097
47 STIL NM_001048166.1(STIL):c.2132C>T (p.Ser711Leu) SNV Uncertain significance 449275 rs201448287 GRCh37: 1:47745998-47745998
GRCh38: 1:47280326-47280326
48 STIL NM_001048166.1(STIL):c.892A>G (p.Asn298Asp) SNV Uncertain significance 282750 rs770213403 GRCh37: 1:47755238-47755238
GRCh38: 1:47289566-47289566
49 STIL NM_001048166.1(STIL):c.3637dup (p.Thr1213fs) Duplication Uncertain significance 632109 rs1225063106 GRCh37: 1:47717037-47717038
GRCh38: 1:47251365-47251366
50 STIL NM_001048166.1(STIL):c.3437C>T (p.Ala1146Val) SNV Uncertain significance 21357 rs3766317 GRCh37: 1:47717238-47717238
GRCh38: 1:47251566-47251566

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 7, Primary, Autosomal Recessive:

72
# Symbol AA change Variation ID SNP ID
1 STIL p.Leu798Trp VAR_072404 rs398122976

Expression for Microcephaly 7, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 7, Primary, Autosomal Recessive.

Pathways for Microcephaly 7, Primary, Autosomal Recessive

GO Terms for Microcephaly 7, Primary, Autosomal Recessive

Cellular components related to Microcephaly 7, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.16 WDR62 STIL SASS6 MCPH1 CEP63 CEP152
2 cytosol GO:0005829 10.09 WDR62 STIL SASS6 KNL1 CEP63 CEP152
3 cytoskeleton GO:0005856 9.85 WDR62 STIL SASS6 MCPH1 CEP63 CEP152
4 microtubule organizing center GO:0005815 9.8 WDR62 SASS6 MCPH1 CEP63 CEP152 CENPJ
5 spindle pole GO:0000922 9.62 WDR62 CEP63 CDK5RAP2 ASPM
6 centrosome GO:0005813 9.61 WDR62 STIL SASS6 CEP63 CEP152 CEP135
7 mitotic spindle pole GO:0097431 9.48 CDK5RAP2 ASPM
8 pericentriolar material GO:0000242 9.4 CEP152 CDK5RAP2
9 deuterosome GO:0098536 9.37 SASS6 CEP152
10 centriole GO:0005814 9.17 WDR62 STIL SASS6 CEP63 CEP152 CEP135

Biological processes related to Microcephaly 7, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.84 SASS6 KNL1 CEP63 ASPM
2 cell division GO:0051301 9.78 KNL1 CEP63 CENPJ ASPM
3 G2/M transition of mitotic cell cycle GO:0000086 9.65 CEP63 CEP152 CEP135 CENPJ CDK5RAP2
4 cerebral cortex development GO:0021987 9.61 WDR62 MCPH1 ASPM
5 negative regulation of neuron differentiation GO:0045665 9.57 CDK5RAP2 ASPM
6 neurogenesis GO:0022008 9.56 WDR62 CDK5RAP2
7 mitotic spindle organization GO:0007052 9.55 WDR62 STIL
8 ciliary basal body-plasma membrane docking GO:0097711 9.55 CEP63 CEP152 CEP135 CENPJ CDK5RAP2
9 establishment of mitotic spindle orientation GO:0000132 9.52 MCPH1 CDK5RAP2
10 protein localization to centrosome GO:0071539 9.51 STIL MCPH1
11 centrosome duplication GO:0051298 9.5 STIL SASS6 CEP152
12 neuronal stem cell population maintenance GO:0097150 9.49 MCPH1 ASPM
13 regulation of centriole replication GO:0046599 9.46 STIL CENPJ
14 positive regulation of establishment of protein localization GO:1904951 9.4 CEP135 CENPJ
15 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 9.37 CEP63 CEP152
16 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.35 CEP63 CEP152 CEP135 CENPJ CDK5RAP2
17 centriole replication GO:0007099 9.17 WDR62 SASS6 CEP63 CEP152 CEP135 CENPJ

Molecular functions related to Microcephaly 7, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

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

Sources for Microcephaly 7, 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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