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autosomal recessive primary microcephaly
autosomal recessive primary microcephaly
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
autosomal recessive primary microcephaly
CDK5RAP2
Unknown
—
ClinGen
Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
AURKA Activation by TPX2
+4 more
CENPE
Unknown
—
ClinGen
Motor proteins
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
MHC class II antigen presentation
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
RHO GTPases Activate Formins
COPI-dependent Golgi-to-ER retrograde traffic
Mitotic Prometaphase
EML4 and NUDC in mitotic spindle formation
Kinesins
+7 more
STIL
Unknown
—
ClinGen
—
All
4
Causal
1
Unknown
3
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
3
Related Diseases
Diseases that share the most curated genes with autosomal recessive primary microcephaly.
5
View disease cluster →
Corpus callosum agenesis
1 shared gene
CDK5RAP2
Related via 1 shared gene including CDK5RAP2.
Urethral syndrome
1 shared gene
CDK5RAP2
Related via 1 shared gene including CDK5RAP2.
Primary microcephaly
4 shared genes
CENPE, ASPM, CDK5RAP2, STIL
Related via 4 shared genes including CENPE, ASPM, CDK5RAP2.
Congenital malformation syndromes associated with short stature
1 shared gene
CDK5RAP2
Related via 1 shared gene including CDK5RAP2.
Seckel syndrome
2 shared genes
CENPE, CDK5RAP2
Related via 2 shared genes including CENPE, CDK5RAP2.
1
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