Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CONGENITAL MICROCEPHALY	C2677180	AFF2	Unknown	—	Disgenet	—
		ASPM	Unknown	—	Disgenet	—
		BRF1	Unknown	—	Disgenet	RNA Polymerase III Transcription Initiation From Type 1 Promoter RNA Polymerase III Transcription Initiation From Type 2 Promoter
		CASK	Unknown	—	Disgenet	Dopamine Neurotransmitter Release Cycle Neurexins and neuroligins
		CDK5RAP2	Unknown	—	Disgenet	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	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		CIT	Unknown	—	Disgenet	RHO GTPases activate CIT
		CPAP	Unknown	—	Disgenet	—
		DHCR7	Unknown	—	Disgenet	Steroid biosynthesis Metabolic pathways Activation of gene expression by SREBF (SREBP) +2 more
		DNAH2	Unknown	—	Disgenet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		EP300	Unknown	—	Disgenet	Polycomb repressive complex Viral life cycle - HIV-1 cAMP signaling pathway +66 more
		FOXG1	Unknown	—	Disgenet	FoxO signaling pathway FOXO-mediated transcription of cell cycle genes
		IGF2BP3	Unknown	—	Disgenet	Insulin-like Growth Factor-2 mRNA Binding Proteins (IGF2BPs/IMPs/VICKZs) bind RNA
		INO80	Unknown	—	Disgenet	ATP-dependent chromatin remodeling UCH proteinases DNA Damage Recognition in GG-NER
		KNL1	Unknown	—	Disgenet	Cell cycle Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids +5 more
		MCPH1	Unknown	—	Disgenet	Condensation of Prophase Chromosomes
		MZT2B	Unknown	—	Disgenet	Recruitment of mitotic centrosome proteins and complexes Recruitment of NuMA to mitotic centrosomes
		OCLN	Unknown	—	Disgenet	Virion - Hepatitis viruses Cell adhesion molecules Tight junction +5 more
		PHC1	Unknown	—	Disgenet	Polycomb repressive complex Oxidative Stress Induced Senescence SUMOylation of DNA damage response and repair proteins +6 more
		PNKP	Unknown	—	Disgenet	Base excision repair APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway
		RAB11A	Unknown	—	Disgenet	Endocytosis Endocrine and other factor-regulated calcium reabsorption Vasopressin-regulated water reabsorption +7 more
		RNF17	Unknown	—	Disgenet	—
		RTTN	Unknown	—	Disgenet	—
		SMARCAL1	Unknown	—	Disgenet	—
		STIL	Unknown	—	Disgenet	—
		TSEN15	Unknown	—	Disgenet	tRNA processing in the nucleus
		TSR1	Unknown	—	Disgenet	Major pathway of rRNA processing in the nucleolus and cytosol
		TUBA3E	Unknown	—	Disgenet	Phagosome Apoptosis Tight junction +31 more
		WDR62	Unknown	—	Disgenet	—
CONGENITAL MICROCEPHALY - SEVERE ENCEPHALOPATHY - PROGRESSIVE CEREBRAL ATROPHY SYNDROME	MONDO:0014258	ASNS	Causal	32481472 32255274 31720226 31123592 30978478 30057589 29375865 29279279 28776279 27743885 27522229 27469131 27422383 27268761 25663424 25227173 24139043	ClinGen, ClinVar, GWAS catalog	Alanine, aspartate and glutamate metabolism Metabolic pathways Biosynthesis of amino acids +1 more
CONGENITAL MICROCEPHALY, SEVERE ENCEPHALOPATHY, PROGRESSIVE CEREBRAL ATROPHY SYNDROME	C3809971	ASNS	Unknown	—	Disgenet	Alanine, aspartate and glutamate metabolism Metabolic pathways Biosynthesis of amino acids +1 more
	C3809971	CTLA4	Unknown	—	Disgenet	Cell adhesion molecules T cell receptor signaling pathway Autoimmune thyroid disease +3 more
CONGENITAL MICROCEPHALY-SEVERE ENCEPHALOPATHY-PROGRESSIVE CEREBRAL ATROPHY SYNDROME	391376	ASNS	Unknown	24139043	Orphanet	Alanine, aspartate and glutamate metabolism Metabolic pathways Biosynthesis of amino acids +1 more

Congenital microcephaly

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