Autosomal recessive primary microcephaly | Gene-Disease Associations & Pathways | GeDiPNet

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Subtype of: Primary microcephaly

Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
autosomal recessive primary microcephaly	MONDO_0016660 MONDO_0009617 MONDO_0859342 MONDO_0019342 MONDO_0054761 MONDO_0014660 MONDO_0054804 MONDO_0054805 MONDO_0019006 MONDO_0014043	ASPM	Causal	12355089 14574646 16673149 18452193 19028728 19353628 19770472 22775483 22989186 27250695 30500859	ClinGen, Open Targets	—
		CIT	Causal	27453578 27503289 27519304 27453579	Open Targets	RHO GTPases activate CIT
		CPAP	Causal	22020124 15793586	Open Targets	—
		MCPH1	Causal	7693575 20978018 12046007 30500859 16311745 11857108 16211557 15199523	Open Targets	Condensation of Prophase Chromosomes
		ANKLE2	Unknown	30214071 25259927 31735666	Open Targets	Initiation of Nuclear Envelope (NE) Reformation
		BUB1	Unknown	35044816	Open Targets	Cell cycle Oocyte meiosis Progesterone-mediated oocyte maturation +6 more
		CDK5RAP2	Unknown	15793586 31355417 32015000	ClinGen, Open Targets	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		CDK6	Unknown	23918663	Open Targets	Cell cycle p53 signaling pathway PI3K-Akt signaling pathway +27 more
		CENPE	Unknown	24748105	ClinGen, Open Targets	Motor proteins Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal MHC class II antigen presentation +7 more
		CEP135	Unknown	22521416	Open Targets	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		CEP152	Unknown	20598275	Open Targets	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		COPB2	Unknown	29036432	Open Targets	COPI-mediated anterograde transport COPI-dependent Golgi-to-ER retrograde traffic
		KIF14	Unknown	29343805 28892560 24128419 30388224	Open Targets	Motor proteins RHO GTPases activate CIT
		KNL1	Unknown	26621532 26626498 22983954 27149178 37937525	Open Targets	Cell cycle Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids +5 more
		MFSD2A	Unknown	26005865	Open Targets	Synthesis of PC
		NCAPD2	Unknown	28097321 27737959 31056748	Open Targets	Condensation of Prometaphase Chromosomes
		NCAPD3	Unknown	27737959	Open Targets	Condensation of Prophase Chromosomes
		NCAPH	Unknown	27737959	Open Targets	Condensation of Prometaphase Chromosomes
		NUP37	Unknown	30179222	Open Targets	Nucleocytoplasmic transport Amyotrophic lateral sclerosis ISG15 antiviral mechanism +32 more
		PHC1	Unknown	23418308	Open Targets	Polycomb repressive complex Oxidative Stress Induced Senescence SUMOylation of DNA damage response and repair proteins +6 more
		SASS6	Unknown	24951542 38501757 30639237 36739862	Open Targets	—
		STIL	Unknown	19215732 22989186 25218063 29230157	ClinGen, Open Targets	—
		TRAPPC14	Unknown	30715179	Open Targets	—
		ZNF335	Unknown	29652087 34982360 27540107 23178126 30500859 31187448	Open Targets	—